RS# (dbSNP)	#AlleleID	Name	GeneSymbol	LastEvaluated	PhenotypeIDS	PhenotypeList	Origin	Chromosome	Start	Flank
104894397	32042	NM_004004.5(GJB2):c.229T>C (p.Trp77Arg)	GJB2	Oct 04, 2017	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	20189353	CACTACTTCCCCATCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTTCGTGTCCACGC
121908612	21143	NM_004820.4(CYP7B1):c.647T>C (p.Phe216Ser)	CYP7B1	Feb 01, 2008	MedGen:C1849115,OMIM:270800,Orphanet:ORPHA100986	Spastic paraplegia 5A	germline	8	64615894	ACAAATTTATTAGTGAGCTAAGAGATGATTTTTTAAAATTTGATGACAAGTTTGCATATTT
397514359	36345	NM_000060.4(BTD):c.445T>C (p.Phe149Leu)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15642043	AGGTGGAACCCATGCCTGGAGCCTCACCGCTTCAATGACACAGAGGTGATTCCTGCCTTTT
886039817	260579	NM_000812.3(GABRB1):c.737T>C (p.Phe246Ser)	GABRB1	Oct 12, 2016	MedGen:C4310691,OMIM:617153	Epileptic encephalopathy, early infantile, 45	germline	4	47403613	GTTTTCGTCTAAAGAGAAACATTGGTTACTTCATTTTGCAAACCTACATGCCTTCTACACT
886037932	248762	NM_013328.3(PYCR2):c.773T>C (p.Val258Ala)	PYCR2	Sep 16, 2016	MedGen:C4225332,OMIM:616420	Leukodystrophy, hypomyelinating, 10	germline	1	225921232	GGGGCTTCCGCTCTCTGCTCATCAATGCAGTTGAGGCCTCCTGTATCCGAACACGGTGAGT
879254848	246073	NM_000527.4(LDLR):c.1265T>C (p.Leu422Pro)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113356	TGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCT
74315311	17110	NM_020435.3(GJC2):c.857T>C (p.Met286Thr)	GJC2	Apr 01, 2007	MedGen:C1837355,OMIM:608804,Orphanet:ORPHA280270	Leukodystrophy, hypomyelinating, 2	germline	1	228158615	GCCTGTGCCTGCTGCTCAACCTCTGTGAGATGGCCCACCTGGGCTTGGGCAGCGCGCAGGA
398122910	48328	NM_000431.3(MVK):c.1039+2T>C	MVK	Nov 15, 2012	MedGen:C1867981,OMIM:175900	Porokeratosis, disseminated superficial actinic 1	germline	12	109595183	TGGCTGTGGCATCACACTCCTCAAGCCAGGTATCCCGGGGGTAGGTGGGCCAGGCTGCCAG
104894907	26015	NM_000475.4(NR0B1):c.890T>C (p.Leu297Pro)	NR0B1	Feb 27, 2010	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30308474	TGCGCAACTGCTGGGCGTCCCTGCTCATGCTTGAGCTGGCCCAGGACCGCTTGCAGTTCGA
690016560	171824	NM_005211.3(CSF1R):c.2717T>C (p.Ile906Thr)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150054368	AGCCCACCCACAGACCCACCTTCCAGCAGATCTGCTCCTTCCTTCAGGAGCAGGCCCAAGA
104894167	20476	NM_005097.3(LGI1):c.695T>C (p.Leu232Pro)	LGI1	Feb 01, 2007	MedGen:C1838062,OMIM:600512,Orphanet:ORPHA101046	Epilepsy, lateral temporal lobe, autosomal dominant	germline	10	93793207	TTTTTGCAGAATTTGCAAAGTCTCAAGACCTGCCTTATCAATCATTGTCCATAGACACTTT
1057519714	362813	NM_000125.3(ESR1):c.1387T>C (p.Ser463Pro)	ESR1	Oct 02, 2014	Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Neoplasm of the breast	somatic	6	152094402	TCTGCGCATTCAGGAGTGTACACATTTCTGTCCAGCACCCTGAAGTCTCTGGAAGAGAAGG
121434475	24650	m.9997T>C	MT-TG	Sep 01, 1994	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	MT	9997	TCTCCATCTATTGATGAGGGTCTTACTCTTTTAGTATAAATAGTACCGTTAACTTCCAATT
104893978	17492	NM_000434.3(NEU1):c.718T>C (p.Trp240Arg)	NEU1	Jan 01, 2002	MedGen:C0268226,OMIM:256550	Sialidosis, type II	germline	6	31860519	TGTCTCCTCAGCGATGATCATGGTGCCTCCTGGCGCTACGGAAGTGGGGTCAGCGGCATCC
765487627	226289	NM_016417.2(GLRX5):c.443T>C (p.Leu148Ser)	GLRX5	Mar 17, 2016	MedGen:C4225155,OMIM:616860	Sideroblastic anemia 3, pyridoxine-refractory	germline	14	95544094	TGAAAAAGCTGGGGATCCACTCCGCCCTTTTAGATGAAAAGAAAGACCAAGACTCCAAGTG
63751110	96621	NM_000251.2(MSH2):c.595T>C (p.Cys199Arg)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47410322	GCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCGGAGGAGAGACTGCTGGAG
387906827	39187	NM_004153.3(ORC1):c.266T>C (p.Phe89Ser)	ORC1	Feb 27, 2011	MedGen:CN030358,OMIM:224690	Meier-Gorlin syndrome 1	germline	1	52397821	CTCCTAAGAAACGTGCTCGAGTACAGTGGTTTGTCCGATTCTGTGAAGTCCCTGCCTGTAA
121909651	31300	NM_182925.4(FLT4):c.3131T>C (p.Leu1044Pro)	FLT4	Jun 01, 2000	MedGen:C1704423,OMIM:153100,Orphanet:ORPHA79452,SNOMED CT:399889006	Hereditary lymphedema type I	germline	5	180616455	TCCACAGAGACCTGGCTGCTCGGAACATTCTGCTGTCGGAAAGCGACGTGGTGAAGATCTG
35693898	30161	NM_000518.4(HBB):c.257T>C (p.Phe86Ser)	HBB	Mar 14, 2013	MedGen:C0019045,Orphanet:ORPHA68364,SNOMED CT:80141007	Hemoglobinopathy	germline	11	5226635	TGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAA
-1	440210	NM_001080463.1(DYNC2H1):c.12827T>C (p.Leu4276Ser)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	unknown	11	103479135	GTCCATATTCTCCGGATGAGTGCATCTCTTTGCCTGTTTACACAAGTGCTGAAAGGGATCG
875989816	199889	NM_003239.4(TGFB3):c.754+2T>C	TGFB3	Apr 07, 2015	MedGen:C3810012,OMIM:615582	Loeys-Dietz syndrome 5	germline	14	75965586	TCACGAGGTGATGGAAATCAAATTCAAAGGTAACAAAATGAATGTGTATGGTAGGATGGGT
104895217	27376	NM_001065.3(TNFRSF1A):c.175T>C (p.Cys59Arg)	TNFRSF1A	Feb 12, 2016	MedGen:C1275126,OMIM:142680,Orphanet:ORPHA32960,SNOMED CT:403833009;MedGen:CN517202	TNF receptor-associated periodic fever syndrome (TRAPS);not provided	germline	12	6334109	TATATCCACCCTCAAAATAATTCGATTTGCTGTACCAAGTGCCACAAAGGTAGGGGCAAGT
879254505	245530	NM_000527.4(LDLR):c.382T>C (p.Cys128Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105288	GATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCT
879254682	245799	NM_000527.4(LDLR):c.808T>C (p.Cys270Arg)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11106678	GACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTT
121918139	15778	NM_203395.2(IYD):c.347T>C (p.Ile116Thr)	IYD	Apr 24, 2008	MedGen:C0342195,OMIM:274800,SNOMED CT:17885001	Iodotyrosine deiodination defect	germline	6	150389520	TAAGTAATGAGCAAGTCCCAATGGAAGTCATTGATAATGTCATCAGAACGGCAGGTTTGTA
137852738	34111	NM_001034850.2(RETREG1):c.873+2T>C	RETREG1	Nov 23, 2010	MedGen:C2752089,OMIM:201300	Hereditary sensory and autonomic neuropathy type IIA	not provided	5	16478032	AATTAGACTTTTCAGCTCTTTGTCCTAAGGTATTTTTTGTTTAGTTTTCAATTTGTTCCTG
80356744	34317	NM_007375.3(TARDBP):c.*83T>C	TARDBP	Apr 23, 2009	MedGen:C2677565,OMIM:612069	Amyotrophic lateral sclerosis type 10	not provided	1	11022737	AAACTCATGGTAAGTATATTGTAAAATACATATGTACTAAGAATTTTCAAAATTGGTTTGT
-1	464955	NM_000138.4(FBN1):c.2626T>C (p.Cys876Arg)	FBN1	Mar 01, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48495174	ATCAATGGAGCCACCTTAAAGTCCCAGTGCTGCTCCTCCCTCGGTGCTGCGTGGGGAAGCC
121912653	27389	NM_000546.5(TP53):c.755T>C (p.Leu252Pro)	TP53	Nov 30, 1990	Gene:553989,MedGen:C1835398,OMIM:151623	Li-Fraumeni syndrome 1	germline	17	7674208	GCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCCAGGTC
104895228	103578	NM_001065.3(TNFRSF1A):c.295T>C (p.Cys99Arg)	TNFRSF1A	Mar 04, 2015	MedGen:C1275126,OMIM:142680,Orphanet:ORPHA32960,SNOMED CT:403833009;MedGen:CN517202	TNF receptor-associated periodic fever syndrome (TRAPS);not provided	germline	12	6333764	TTCACCGCTTCAGAAAACCACCTCAGACACTGCCTCAGCTGCTCCAAATGCCGAAAGGGTG
587779195	152464	NM_000251.2(MSH2):c.942+2T>C	MSH2	May 31, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47414420	CAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGG
876661120	231979	NM_004360.4(CDH1):c.2164+2T>C	CDH1	Nov 13, 2015	MedGen:CN517202	not provided	germline	16	68823628	GATTCTTGGAGGAATTCTTGCTTTGCTAAGTAAGTCCAGCTGGCAAGTGACTCAGCCTTTG
78365220	99404	NM_000402.4(G6PD):c.473T>C (p.Leu158Pro)	G6PD	Oct 29, 2013	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	germline	X	154535270	ACCAGCGCCTCAACAGCCACATGAATGCCCTCCACCTGGGGTCACAGGCCAACCGCCTCTT
1085307214	414150	NM_001204.6(BMPR2):c.349T>C (p.Cys117Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467620	TCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACT
121912729	32972	NM_000039.2(APOA1):c.593T>C (p.Leu198Ser)	APOA1	Sep 01, 1999	MedGen:C0268389,OMIM:105200,Orphanet:ORPHA85450,SNOMED CT:66451004	Familial visceral amyloidosis, Ostertag type	germline	11	116836019	CCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAA
121918489	28303	NM_000141.4(FGFR2):c.1018T>C (p.Tyr340His)	FGFR2	Sep 17, 2016	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008	Crouzon syndrome	germline	10	121517385	CGGAATGTAACTTTTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTGGGA
104894938	26677	NM_006517.4(SLC16A2):c.1481T>C (p.Leu494Pro)	SLC16A2	Mar 09, 2010	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59	Allan-Herndon-Dudley syndrome	germline	X	74531414	GTGTGCCCCCCATCATCGGGGCTGTAATCCTCTTCTTCGTCCCTCTGATGCATCAAAGGAT
61749433	39173	NM_000350.2(ABCA4):c.2461T>C (p.Trp821Arg)	ABCA4	Feb 01, 2000	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline	1	94055237	CGCTTTGAAGAGCAAGGCCTGGGGCTGCAGTGGAGCAACATCGGGAACAGTCCCACGGAAG
267606985	28777	NM_198965.1(PTHLH):c.179T>C (p.Leu60Pro)	PTHLH	Mar 12, 2010	MedGen:C3150644,OMIM:613382	Brachydactyly type E2	germline	12	27963693	CCATCCAAGATTTACGGCGACGATTCTTCCTTCACCATCTGATCGCAGAAATCCACACAGC
730880132	178431	NM_170707.3(LMNA):c.710T>C (p.Phe237Ser)	LMNA	Feb 20, 2014	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004	Primary dilated cardiomyopathy	germline	1	156134875	TGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGA
1131692064	424212	NC_012920.1:m.7989T>C	MT-CO2	May 22, 2017	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	MT	7989	CATTATTCCTAGAACCAGGCGACCTGCGACTCCTTGACGTTGACAATCGAGTAGTACTCCC
1131692249	424388	NM_001080483.2(MYMK):c.461T>C (p.Ile154Thr)	MYMK	Jul 19, 2017	MedGen:C1850746,OMIM:254940,Orphanet:ORPHA1358,SNOMED CT:429753001	Congenital nonprogressive myopathy with Moebius and Robin sequences	germline	9	133515546	ACCCAGACAAGAGCGTCTACACCCAGCAGATAGGCCCCGGCCTCTGCTTCGGGGCGCTGGC
397515481	76981	NM_023110.2(FGFR1):c.494T>C (p.Leu165Ser)	FGFR1	Jan 06, 2016	MedGen:C1845146,OMIM:615465,Orphanet:ORPHA2117	Hartsfield syndrome	germline	8	38428048	GGACATCCCCAGAAAAGATGGAAAAGAAATTGCATGCAGTGCCGGCTGCCAAGACAGTGAA
387907229	44206	NM_005691.3(ABCC9):c.3058T>C (p.Ser1020Pro)	ABCC9	May 18, 2012	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517	Hypertrichotic osteochondrodysplasia	germline	12	21845641	GCTATAGACTATTGGCTGGCCACATGGACATCGGAGTACAGTATAAACAATACTGGAAAAG
41460449	24764	m.3394T>C	MT-ND1	May 12, 2017	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003;MedGen:CN169374	Leber's optic atrophy;not specified	germline	MT	3394	CTAATGCTTACCGAACGAAAAATTCTAGGCTATATACAACTACGCAAAGGCCCCAACGTTG
28933669	25245	NM_000132.3(F8):c.1174T>C (p.Ser392Pro)	F8	Apr 01, 1994	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154966523	GACAACTCTCCTTCCTTTATCCAAATTCGCTCAGTTGCCAAGAAGCATCCTAAAACTTGGG
886042605	267587	NM_172109.2(KCNQ2):c.1120T>C (p.Tyr374His)	KCNQ2	Sep 15, 2015	MedGen:C1852587,OMIM:121200;MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy 7	germline	20	63433807	GAGCGAACGGTCACCGTGCCCATGTACAGGTACCGCCGCCGGGCACCTGCCACCAAGCAAC
587783597	169466	NM_001005360.2(DNM2):c.1862T>C (p.Leu621Pro)	DNM2	Feb 08, 2013	MedGen:CN221282	Myopathy, centronuclear	germline	19	10823868	AAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCA
137853587	28684	NM_000175.4(GPI):c.1016T>C (p.Leu339Pro)	GPI	Oct 01, 1998	MedGen:C4016321	Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency	germline	19	34394020	ACTGCTTTGGGTGTGAGACACACGCCATGCTGCCCTATGACCAGTACCTGCACCGCTTTGC
1085307171	414098	NM_001204.6(BMPR2):c.178T>C (p.Cys60Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464910	AGAATCTCTCATGAAAATGGGACAATATTATGCTCGAAAGGTAGCACCTGCTATGGCCTTT
137852948	19152	NM_138694.3(PKHD1):c.10658T>C (p.Ile3553Thr)	PKHD1	Mar 01, 2002	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	51659468	TGTATGTTGTCCTACAAGGAGAGGAGCCCATTGAAATACGCTCAGGTGTTTCCATTCACTT
387906482	25704	NM_000133.3(F9):c.1031T>C (p.Ile344Thr)	F9	Aug 15, 2000	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561716	TTTGCATTGCTGACAAGGAATACACGAACATCTTCCTCAAATTTGGATCTGGCTATGTAAG
137853017	20556	NM_014363.5(SACS):c.5836T>C (p.Trp1946Arg)	SACS	Jul 01, 2003	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98	Spastic ataxia Charlevoix-Saguenay type	germline	13	23338040	GAGCTAATGGATTATACTTACTATGCAGTATGGCCCGATCCTGATTTAGTTCATGATGATT
137852579	24871	NM_000044.4(AR):c.2033T>C (p.Leu678Pro)	AR	Jan 01, 1995	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67711549	ATGAATGTCAGCCCATCTTTCTGAATGTCCTGGAAGCCATTGAGCCAGGTGTAGTGTGTGC
397515557	76594	NM_005211.3(CSF1R):c.2483T>C (p.Phe828Ser)	CSF1R	Aug 30, 2012	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	not provided	5	150056097	CTGTGAAGTGGATGGCCCCAGAGAGCATCTTTGACTGTGTCTACACGGTTCAGAGCGACGT
560952220	424263	NM_000053.3(ATP7B):c.3305T>C (p.Ile1102Thr)	ATP7B	Jun 26, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline	13	51942493	CGGACTTCCAGGCAGTGCCAGGCTGTGGAATTGGGTGCAAAGTCAGCAACGTGGAAGGCAT
63750265	33185	NM_000021.3(PSEN1):c.497T>C (p.Leu166Pro)	PSEN1	Jun 11, 2002	MedGen:C1843013,OMIM:607822	Alzheimer disease, type 3	germline	14	73186869	GCTTTCTTTTCTAGGTCATCCATGCCTGGCTTATTATATCATCTCTATTGTTGCTGTTCTT
-1	481110	NM_014585.5(SLC40A1):c.479T>C (p.Val160Ala)	SLC40A1	Jun 24, 2015	MedGen:C1853733,OMIM:606069,Orphanet:ORPHA139491	Hemochromatosis type 4	germline	2	189571750	CTGCAATCACAATCCAAAGGGATTGGATTGTTGTTGTTGCAGGAGAAGACAGAAGCAAACT
121908947	21784	NM_006892.3(DNMT3B):c.808T>C (p.Ser270Pro)	DNMT3B	Sep 15, 2002	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	germline	20	32789007	TGGGTCCAGTGGTTTGGCGATGGCAAGTTCTCCGAGGTGAGTCCGGGGAAGGGCAAGGGGT
431825406	262964	NM_007294.3(BRCA1):c.4185+2T>C	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43090942	CCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTG
548535414	17663	NM_022464.4(SIL1):c.645+2T>C	SIL1	Dec 01, 2005	MedGen:C0024814,OMIM:248800,Orphanet:ORPHA559,SNOMED CT:80734006	Marinesco-Sjögren syndrome	germline	5	139026799	TCTTTGATCTTGAATATTATGTCCATCAGGTACTGTATTTCTTCGTCCATAAGTCAGACTT
137852434	25283	NM_000132.3(F8):c.2029T>C (p.Phe677Leu)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154947782	TTCCTTTCTGTCTTCTTCTCTGGATATACCTTCAAACACAAAATGGTCTATGAAGACACAC
-1	430997	NM_213599.2(ANO5):c.1078T>C (p.Cys360Arg)	ANO5	Jun 07, 2017	MedGen:C1833736,OMIM:166260,Orphanet:ORPHA53697	Gnathodiaphyseal dysplasia	inherited	11	22250805	ATGATCATGTGCCCACTCTGTGATCAAGTGTGTGATTATTGGAGACTAAATAGTACGTGTT
63750912	29296	NM_016835.4(MAPT):c.1839T>C (p.Asn613=)	MAPT	Dec 01, 2000	Human Phenotype Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:230270009;MedGen:CN517202	Frontotemporal dementia;not provided	germline	17	46010375	CGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTG
267607219	18344	NM_139248.2(LIPH):c.322T>C (p.Trp108Arg)	LIPH	Aug 01, 2011	MedGen:C3148823	Woolly hair, autosomal recessive 2, with or without hypotrichosis	germline	3	185534860	GTTGAAGACATGAACGTAGTTGTTGTTGATTGGAATCGAGGAGCTACAACTTTAATATATA
587777657	153785	NM_153334.6(SCARF2):c.190T>C (p.Cys64Arg)	SCARF2	May 01, 2014	MedGen:C1833136,OMIM:600920,Orphanet:ORPHA2460	Marden Walker like syndrome	germline	22	20431972	CCCTCTGCTCGCAGCTCCCAGGTGCCCACGTGCTGCGCTGGCTGGAGGCAGCAAGGGGACG
61751310	15345	NM_000552.4(VWF):c.8317T>C (p.Cys2773Arg)	VWF	May 01, 2010	MedGen:CN517202;MedGen:C1282968,Orphanet:ORPHA166084	not provided;von Willebrand disease, type 2a	germline	12	5949140	GACATCAACGATGTGCAGGACCAGTGCTCCTGCTGCTCTCCGACACGGACGGAGCCCATGC
28939719	20794	NM_032551.4(KISS1R):c.443T>C (p.Leu148Ser)	KISS1R	Nov 07, 2008	MedGen:C4016875	Hypogonadotropic hypogonadism 8 without anosmia	germline	19	919563	TGGACCGCTGGTACGTGACGGTGTTCCCGTTGCGCGCCCTGCACCGCCGCACGCCCCGCCT
113994206	34291	NM_004937.2(CTNS):c.473T>C (p.Leu158Pro)	CTNS	Aug 11, 2011	MedGen:C0010690,OMIM:219800	Nephropathic cystinosis	not provided	17	3656498	GTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGAC
111033546	32506	NM_000493.3(COL10A1):c.1771T>C (p.Cys591Arg)	COL10A1	Feb 01, 1994	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	unknown	6	116120345	CATTATGACCCAAGGACTGGAATCTTTACTTGTCAGATACCAGGAATATACTATTTTTCAT
397514516	48109	NM_006177.3(NRL):c.287T>C (p.Met96Thr)	NRL	Nov 01, 2012	MedGen:C1834329,OMIM:613750	Retinitis pigmentosa 27	germline	14	24082562	AGGCATTGGGGCTGAGTCCTGAAGAGGCCATGGAGCTGCTGCAGGGTCAGGGCCCAGTCCC
149614625	102927	NM_015662.2(IFT172):c.5179T>C (p.Cys1727Arg)	IFT172	Feb 10, 2014	MedGen:C3810175,OMIM:615630	Short-rib thoracic dysplasia 10 with or without polydactyly	germline	2	27444503	ATTTGCTCACAGACCTCCCACAGCCCAGTGTGCCAGGACGTGCTGAAATTCATCAGTCAGT
886037913	248662	NM_001243926.1(MAPKAPK3):c.518T>C (p.Leu173Pro)	MAPKAPK3	Sep 08, 2016	MedGen:C4310713,OMIM:617111,Orphanet:ORPHA466718	Macular dystrophy, patterned, 3	germline	3	50644422	TTCTCTTTCTGGCCCAGCCTGAAAACCTACTCTACACATCTAAGGAGAAAGACGCAGTGCT
137854907	78955	NM_177976.3(ARL6):c.272T>C (p.Ile91Thr)	ARL6	-	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004	Bardet-Biedl syndrome	germline	3	97784972	TTACATTACACAGAGAAGGCCAAGCTATTATTTTTGTCATTGATAGTAGTGATAGATTAAG
267606979	21895	NM_016203.3(PRKAG2):c.1642T>C (p.Ser548Pro)	PRKAG2	Mar 01, 2006	MedGen:C1833236,OMIM:600858	Familial hypertrophic cardiomyopathy 6	germline	7	151560560	GCAGATAGTATTGTGGGTATTATTTCCCTGTCGGACATTCTGCAAGCCCTGATCCTCACAC
267606926	21791	NM_002538.3(OCLN):c.656T>C (p.Phe219Ser)	OCLN	Sep 10, 2010	MedGen:C3489725,OMIM:251290	Band-like calcification with simplified gyration and polymicrogyria	germline	5	69509746	GTTCACAAATATATGCCCTCTGCAACCAATTTTATACACCTGCAGCTACTGGACTCTACGT
28937594	21064	NM_001128227.2(GNE):c.2228T>C (p.Met743Thr)	GNE	Sep 13, 2016	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	36217399	TTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTA
28928894	29647	NM_005557.3(KRT16):c.362T>C (p.Met121Thr)	KRT16	Mar 23, 2016	MedGen:C1706595,OMIM:167200;MedGen:CN517202	Pachyonychia congenita 1;not provided	germline	17	41612327	GGCTTCTGGTGGGCAGTGAGAAGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTA
121908837	21568	NM_003722.4(TP63):c.1033T>C (p.Cys345Arg)	TP63	Oct 15, 1999	MedGen:C1858562,OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	germline	3	189868620	CTGGGCCGACGCTGCTTTGAGGCCCGGATCTGTGCTTGCCCAGGAAGAGACAGGAAGGCGG
559371453	439752	NM_014714.3(IFT140):c.4196T>C (p.Leu1399Pro)	IFT140	Nov 22, 2017	MedGen:CN638473,OMIM:617781	RETINITIS PIGMENTOSA 80	germline	16	1511137	CTGCTCCTCTGCCCCAGGCCTACAGATTCCTGGAGGAGATGCGGCGGCGGCTTCCCTTGGC
-1	445350	NM_000138.4(FBN1):c.5371T>C (p.Cys1791Arg)	FBN1	Sep 27, 2017	MedGen:CN517202	not provided	germline	15	48456688	GTGTGTATCAACATGGTTGGCAGCTTCCGATGTGAATGTCCAGTGGGATTCTTCTATAATG
121908152	19415	NM_001243133.1(NLRP3):c.1718T>C (p.Phe573Ser)	NLRP3	Jul 01, 2002	MedGen:C0409818,OMIM:607115,Orphanet:ORPHA1451,SNOMED CT:239826001;MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000	Chronic infantile neurological, cutaneous and articular syndrome;Familial cold urticaria	germline	1	247425167	ATGGCAAATTCGAAAAGGGGTATTTGATTTTTGTTGTACGTTTCCTCTTTGGCCTGGTAAA
141155833	354097	NM_000527.4(LDLR):c.1868T>C (p.Ile623Thr)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120114	CTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCG
-1	445168	NM_001376.4(DYNC1H1):c.3278T>C (p.Phe1093Ser)	DYNC1H1	Aug 04, 2017	MedGen:CN517202	not provided	germline	14	101994794	TGGTCCAAATAAGGAAGGCCAGAGGAACCTTTGACAATGCAGAAACCAAGAAAGAGTTTGG
768271196	426991	NM_001171.5(ABCC6):c.1814T>C (p.Leu605Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16187177	GGGTGTCCTTTGACCGTCTGGTCACCTTCCTCTGCCTGGAAGAAGTTGACCCTGGTGTCGT
67954347	103105	NM_000531.5(OTC):c.479T>C (p.Ile160Thr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401367	CCCTGGCTAAAGAAGCATCCATCCCAATTATCAATGGGCTGTCAGATTTGTACCATCCTAT
121907968	18956	NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg)	HEXA	Jan 01, 1992	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72345519	CCCAGAGCAGGGGCTGTTGCCGAAAGGCTGTGGAGCAACAAGTTGACATCTGACCTGACAT
148665132	143157	NM_012079.5(DGAT1):c.751+2T>C	DGAT1	Dec 03, 2012	MedGen:C4014516,OMIM:615863,Orphanet:ORPHA329242	Diarrhea 7	germline	8	144318093	GAGCTACCCGGACAATCTGACCTACCGCGGTGAGGACCTCTGTGGGCCTGAGGTGCGGGGG
121965069	26940	NM_000128.3(F11):c.166T>C (p.Cys56Arg)	F11	Nov 25, 2015	MedGen:C0015523,OMIM:612416,Orphanet:ORPHA329,SNOMED CT:49762007	Hereditary factor XI deficiency disease	germline;unknown	4	186271719	TGCCAGGTAGTCTGCACTTACCACCCAAGATGTTTACTCTTCACTTTCACGGCGGAATCAC
115677373	167430	NM_201631.3(TGM5):c.763T>C (p.Trp255Arg)	TGM5	Nov 07, 2014	MedGen:C1853354,OMIM:609796,Orphanet:ORPHA263534	Peeling skin syndrome, acral type	germline	15	43252858	AATTACACAGACGGCGCCAACCCTGCGGAGTGGACGGGCAGCGTGGCCATCCTGAAGCAGT
879254863	246100	NM_000527.4(LDLR):c.1324T>C (p.Tyr442His)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113415	CTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCT
397515465	76943	NM_018127.6(ELAC2):c.460T>C (p.Phe154Leu)	ELAC2	Aug 08, 2013	MedGen:C3809526,OMIM:615440,Orphanet:ORPHA369913	Combined oxidative phosphorylation deficiency 17	germline	17	13014469	TAGGAAAAATACCTCGAAGCAATCAAAATATTTTCTGGTCCATTGAAAGGAATAGAACTGG
111033796	36635	NM_000155.3(GALT):c.967T>C (p.Tyr323His)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649472	TGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCC
863224945	213763	NM_002860.3(ALDH18A1):c.359T>C (p.Val120Ala)	ALDH18A1	Aug 21, 2015	MedGen:C1832669,OMIM:601162,Orphanet:ORPHA100990	Spastic paraplegia 9	germline	10	95637381	GAGAGATGATGCTGGTGACCAGTGGAGCCGTAGCCTTTGGCAAACAACGCTTGCGCCATGA
730881003	49087	NM_002880.3(RAF1):c.1423T>C (p.Phe475Leu)	RAF1	Jun 17, 2013	MedGen:CN517202	not provided	germline	3	12585794	ACCAGAGTCCTTAACAAGCATTGAGATATATTTCTCCATGAAGGCTTAACAGTGAAAATTG
61752128	143214	NM_001079867.1(PEX2):c.739T>C (p.Cys247Arg)	PEX2	Mar 01, 2004	MedGen:C3553940,OMIM:614866	Peroxisome biogenesis disorder 5a (zellweger)	germline	8	76983440	TTAGCCACCAGTGGCAAAGAATGCGCTCTATGTGGAGAGTGGCCCACCATGCCTCACACCA
72549389	22775	NM_000104.3(CYP1B1):c.2T>C (p.Met1Thr)	CYP1B1	May 01, 2001	MedGen:C4310623,OMIM:617315	Anterior segment dysgenesis 6	germline	2	38075387	TGTCACGCCTTCTCCTCTCTGTCCCCAGCATGGGCACCAGCCTCAGCCCGAACGACCCTTG
1131690979	420485	NM_000264.4(PTCH1):c.945+2T>C	PTCH1	Feb 20, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	9	95480388	CCACAGCCCCCAACAAAAATTCAACCAAAGTGAGTACCAGCAGTGAGCGCTCTCAGAAGGG
118204017	16671	NM_000018.3(ACADVL):c.1372T>C (p.Phe458Leu)	ACADVL	Aug 01, 1998	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005	Very long chain acyl-CoA dehydrogenase deficiency	germline	17	7224007	GTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTC
111033589	20050	NM_021044.3(DHH):c.485T>C (p.Leu162Pro)	DHH	Sep 01, 2004	MedGen:CN068862	46,XY gonadal dysgenesis, complete, dhh-related	germline	12	49091208	CTGACCGCGACCGCAACAAGTATGGGTTGCTGGCGCGCCTCGCAGTGGAAGCCGGCTTCGA
796052121	200974	NM_015909.3(NBAS):c.3164T>C (p.Leu1055Pro)	NBAS	Jul 02, 2015	MedGen:C3809651,OMIM:616483,Orphanet:ORPHA464724	Infantile liver failure syndrome 2	germline	2	15394320	GTGTGTCAGAGCTTTTGGAAAAACATGGACTCGAGAAACCAATTTCATTTGTTAAAAACAC
61748511	15348	NM_000552.4(VWF):c.3445T>C (p.Cys1149Arg)	VWF	Nov 15, 2001	MedGen:CN517202;MedGen:C1264039,OMIM:193400,Orphanet:ORPHA166078,SNOMED CT:128106003	not provided;von Willebrand disease type 1	germline	12	6022833	GGGTATGAGTGTGAGTGGCGCTATAACAGCTGTGCACCTGCCTGTCAAGTCACGTGTCAGC
587779771	132662	NM_001101.4(ACTB):c.224T>C (p.Ile75Thr)	ACTB	Oct 19, 2017	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995;MedGen:CN517202	Baraitser-Winter syndrome 1;not provided	germline	7	5529300	TCACCCTGAAGTACCCCATCGAGCACGGCATCGTCACCAACTGGGACGACATGGAGAAAAT
672601332	40352	NM_016042.3(EXOSC3):c.712T>C (p.Trp238Arg)	EXOSC3	Apr 29, 2012	MedGen:C3553449,OMIM:614678	Pontocerebellar hypoplasia, type 1b	germline	9	37780795	GAGATAGTATTTGGAATGAATGGAAGAATATGGGTTAAGGCAAAAACCATCCAGCAGACTT
199469630	106413	NM_017415.2(KLHL3):c.1160T>C (p.Leu387Pro)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137639012	TTGCCAGCATGCAGGAGCGCCGGAGCACACTGGGCGCAGCGGTGCTCAATGACTTGCTCTA
62636271	105772	NM_201253.2(CRB1):c.2555T>C (p.Ile852Thr)	CRB1	Mar 16, 2017	MedGen:C3151202,OMIM:613835;MedGen:C1838647,OMIM:600105;MedGen:CN517202	Leber congenital amaurosis 8;Retinitis pigmentosa 12;not provided	germline	1	197427880	AACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAGATGTAAGACTAAACAACCAAAATCT
367610201	203000	NM_002693.2(POLG):c.1808T>C (p.Met603Thr)	POLG	Jul 26, 2013	MedGen:CN517202	not provided	germline	15	89325591	GCCTGCAGATGCGGGTCACACCTAAACTCATGGCACTTACCTGGGATGGCTTCCCTCTGCA
-1	439503	NM_016169.3(SUFU):c.1217T>C (p.Ile406Thr)	SUFU	Nov 07, 2017	MedGen:CN596207,OMIM:617757	JOUBERT SYNDROME 32	germline	10	102617349	CATATAAAAGTATCACAGGTGACATGGCCATCACGTTTGTCTCCACGGGAGTGGAAGGCGC
120074124	18028	NM_000543.4(SMPD1):c.911T>C (p.Leu304Pro)	SMPD1	Sep 05, 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	6391976	AACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGT
386134128	51294	NM_000096.3(CP):c.1123T>C (p.Tyr375His)	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149206253	AATATCCGTGGGAAGCATGTTAGACACTACTACATTGCCGCTGAGGAAATCATCTGGAACT
138584408	200416	NM_000030.2(AGXT):c.2T>C (p.Met1Thr)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240868867	GTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCC
1135401788	424674	NM_007325.4(GRIA3):c.1964T>C (p.Phe655Ser)	GRIA3	Jan 06, 2017	MedGen:C2678051,OMIM:300699,Orphanet:ORPHA364028	Mental retardation, X-linked, syndromic, wu type	maternal	X	123428027	TTTCTTCCTATACTGCCAATCTCGCTGCTTTCCTGACTGTGGAGAGGATGGTTTCTCCCAT
74315506	17195	NM_017929.5(PEX26):c.2T>C (p.Met1Thr)	PEX26	Aug 01, 2003	MedGen:C3553951,OMIM:614873	Peroxisome biogenesis disorder 7B	germline	22	18078378	AGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCC
267606665	19472	NM_175073.2(APTX):c.668T>C (p.Leu223Pro)	APTX	May 01, 2005	MedGen:C1859598,OMIM:208920,Orphanet:ORPHA1168	Adult onset ataxia with oculomotor apraxia	germline	9	32984733	TGAAGGCTGTGGCCAGGGAACACCTTGAACTCCTTAAGCATATGCACACTGTGGGGGAAAA
104894434	24320	NM_000161.2(GCH1):c.662T>C (p.Met221Thr)	GCH1	Jul 01, 1998	MedGen:C2673535,Orphanet:ORPHA101150	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	germline	14	54844108	TGTGTATGGTAATGCGAGGTGTACAGAAAATGAACAGCAAAACTGTGACCAGCACAATGTT
62517167	15666	NM_000277.2(PAH):c.293T>C (p.Leu98Ser)	PAH	Jul 01, 1993	MedGen:C2678416;MedGen:CN517202	Mild non-PKU hyperphenylalanemia;not provided	germline	12	102894794	TGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGA
397515448	71449	NM_014795.3(ZEB2):c.3211T>C (p.Ser1071Pro)	ZEB2	Jul 01, 2013	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144389885	GGCAAGCGCTTCTCACACTCGGGCTCGTACTCGCAGCACATGAATCACAGGTATTCCTACT
774949844	214900	NM_000282.3(PCCA):c.2062T>C (p.Cys688Arg)	PCCA	Jan 01, 2014	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100527696	GTTTTCCAGGTAGCAGAAGGTCAAGAAATTTGTGTGATTGAAGCCATGAAAATGCAGAATA
121918447	28595	NM_000212.2(ITGB3):c.2332T>C (p.Ser778Pro)	ITGB3	Nov 01, 1992	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	47310169	GCCAACAACCCACTGTATAAAGAGGCCACGTCTACCTTCACCAATATCACGTACCGGGGCA
587777507	143239	NM_022552.4(DNMT3A):c.1943T>C (p.Leu648Pro)	DNMT3A	Apr 01, 2014	MedGen:C4014545,OMIM:615879,Orphanet:ORPHA404443	Tatton-Brown-rahman syndrome	germline	2	25241701	GGTGCTGTCTGCTGGCTGGTGCAGGGCTCCTGGTGCTGAAGGACTTGGGCATTCAGGTGGA
121912969	32032	NM_000165.4(GJA1):c.32T>C (p.Leu11Pro)	GJA1	May 01, 2006	MedGen:C0812437,OMIM:164200	Oculodentodigital dysplasia	germline	6	121446879	TGGGTGACTGGAGCGCCTTAGGCAAACTCCTTGACAAGGTTCAAGCCTACTCAACTGCTGG
397516269	52276	NM_000257.3(MYH7):c.788T>C (p.Ile263Thr)	MYH7	Aug 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	23431426	GGGCAACAGGAAAGTTGGCATCTGCAGACATAGAGACCTGTGAGTGCCATGAATCTGCTAG
199474664	24632	m.3250T>C	MT-TL1	Jan 01, 1997	MedGen:C4016617	Skeletal myopathy, responsive to riboflavin	germline	MT	3250	AACAGGGTTTGTTAAGATGGCAGAGCCCGGTAATCGCATAAAACTTAAAACTTTACAGTCA
121918306	20314	NM_006946.3(SPTBN2):c.758T>C (p.Leu253Pro)	SPTBN2	Sep 15, 2010	MedGen:C0752123,OMIM:600224,Orphanet:ORPHA98766	Spinocerebellar ataxia 5	germline	11	66713645	TGGCTGAAAAGGAACTGGGACTTACCAAGCTGCTGGATCCCGAAGGTGGGGCCAGAGCTAT
137853995	58887	NM_000548.4(TSC2):c.2410T>C (p.Cys804Arg)	TSC2	Sep 18, 2015	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2074254	CAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGG
113994092	34719	NM_004304.4(ALK):c.3749T>C (p.Ile1250Thr)	ALK	May 13, 2016	Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C0027819,OMIM:256700;MedGen:C2751681,OMIM:613014	Neuroblastoma;Neuroblastoma 3	somatic	2	29209873	GGAAATGCATTTCCTTTCTTCCCAGAGACATTGCTGCCAGAAACTGCCTCTTGACCTGTCC
387906990	39693	NM_014874.3(MFN2):c.647T>C (p.Phe216Ser)	MFN2	Feb 22, 2017	MedGen:C4310725,OMIM:617087;MedGen:CN043576;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B;Charcot-Marie-Tooth disease, type 2;not provided	germline	1	11998817	CCACAGAGCTGGACAGCTGGATTGACAAGTTTTGTCTGGATGCTGATGTGTTTGTGCTGGT
1060502023	393119	NM_000251.2(MSH2):c.1510+2T>C	MSH2	Apr 30, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47463156	AACATTAATAAGTGCAGCCAGAGATCTTGGTAAGAATGGGTCATTGGAGGTTGGAATAATT
62637012	20606	NM_014336.4(AIPL1):c.715T>C (p.Cys239Arg)	AIPL1	May 02, 2013	MedGen:C1858386,OMIM:604393;MedGen:CN517202	Leber congenital amaurosis 4;not provided	germline	17	6426684	ATCAATACTCTGATCCTCAACTACTGCCAGTGCCTGCTGAAGAAGGAGGAGTACTATGAGG
370011798	167474	NM_001302946.1(TRNT1):c.668T>C (p.Ile223Thr)	TRNT1	Nov 12, 2014	MedGen:C4015172,OMIM:616084,Orphanet:ORPHA369861	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	germline	3	3146489	GTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAAT
797044602	188229	NM_000257.3(MYH7):c.5117T>C (p.Leu1706Pro)	MYH7	Mar 12, 2015	MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135	Myopathy, distal, 1	germline	14	23415669	AGCGGTCCCGGAAGCTGGCGGAGCAGGAGCTGATTGAGACTAGTGAGCGGGTGCAGCTGCT
33978907	44996	NM_000518.4(HBB):c.*110T>C	HBB	Jun 30, 2017	MedGen:C0472767,Orphanet:ORPHA231222,SNOMED CT:191189009;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202;MedGen:CN169374	Beta thalassemia intermedia;beta Thalassemia;not provided;not specified	germline	11	5225488	AAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCAATGATGT
199474747	79214	NM_001042492.2(NF1):c.2540T>C (p.Leu847Pro)	NF1	Sep 14, 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	31229155	GGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAA
1057519449	362160	NM_177550.4(SLC13A5):c.1475T>C (p.Leu492Pro)	SLC13A5	-	MedGen:C4014621,OMIM:615905	Epileptic encephalopathy, early infantile, 25	germline	17	6687629	CCATCGGCCTCAATCCGCTGTACATCATGCTGCCCTGTACCCTGAGTGCCTCCTTTGCCTT
397515897	51695	NM_000256.3(MYBPC3):c.1351+2T>C	MYBPC3	Aug 10, 2017	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47343019	GAAGTGTAGCACGGAGCTCTTTGTGAAAGGTGGGCCTGGGACCTGAGGATGTGGGAACCTG
137852813	49132	NM_005633.3(SOS1):c.806T>C (p.Met269Thr)	SOS1	Aug 07, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1853120,OMIM:610733;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Noonan syndrome 4;Rasopathy;not provided	germline;unknown	2	39051202	TACTGGGCCATATAGAAGATACAGTAGAAATGACAGATGAAGGCAGTCCCCATCCACTAGT
180177271	200555	NM_000030.2(AGXT):c.806T>C (p.Leu269Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240875964	GGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCAT
886038211	249261	NM_001145073.2(USP27X):c.1141T>C (p.Tyr381His)	USP27X	Sep 26, 2016	MedGen:C4310816,OMIM:300984	Mental retardation, X-linked 105	germline	X	49881448	AATCACCAAGGAACCTTGGAGAGTGGCCACTATACCAGCTTCATCCGGCACCACAAGGACC
863225170	214180	NM_001080522.2(CC2D2A):c.3452T>C (p.Val1151Ala)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	unknown	4	15569346	CAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCA
267606914	15830	NM_001136271.2(NKX2-6):c.451T>C (p.Phe151Leu)	NKX2-6	Mar 01, 2005	MedGen:C0041207,Orphanet:ORPHA3384	Persistent truncus arteriosus	germline	8	23702906	CAGGCGCAGGTGCTGGCCCTGGAGCGGCGCTTCAAGCAGCAGCGGTACCTGTCAGCGCCCG
793888527	190129	NM_005859.4(PURA):c.563T>C (p.Ile188Thr)	PURA	Oct 19, 2015	MedGen:C4015357,OMIM:616158	Mental retardation, autosomal dominant 31	germline	5	140114744	CTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCATCGAGTT
397507531	48998	NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu)	PTPN11	Oct 26, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1860991,OMIM:609942;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Noonan syndrome 3;Rasopathy;not provided	germline	12	112473040	AACAAAAATAGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGCTCAGTAATAGT
690016559	171842	NM_005211.3(CSF1R):c.1957T>C (p.Cys653Arg)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150060874	CACGAGAACATCGTCAACCTTCTGGGAGCCTGTACCCATGGAGGTAAGGGCCTTGGGGTTC
387906967	39609	NM_006147.3(IRF6):c.65T>C (p.Leu22Pro)	IRF6	Feb 01, 2004	MedGen:C0265259,OMIM:119500,SNOMED CT:66783006;MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Popliteal pterygium syndrome;Van der Woude syndrome	germline	1	209801349	CCTGGCTGGTGGCCCAGGTGGATAGTGGCCTCTACCCTGGGCTCATCTGGCTACACAGGGA
886042617	267649	NM_003494.3(DYSF):c.937+2T>C	DYSF	Oct 06, 2015	MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Miyoshi muscular dystrophy 1	germline	2	71520210	GGACGTGGGCACCATTTACAGAGAGCCCCGTGAGTTCTCACCACTTTGGCCGTATCCTTGC
59510579	18045	NM_000226.3(KRT9):c.470T>C (p.Met157Thr)	KRT9	Jul 30, 2003	Human Phenotype Ontology:HP:0007559,MedGen:C1721006,OMIM:144200,Orphanet:ORPHA2199;MedGen:CN517202	Epidermolytic palmoplantar keratoderma;not provided	germline	17	41571523	GTATTCTGACTGCTAATGAGAAGAGCACCATGCAGGAACTCAATTCTCGGCTGGCCTCTTA
281875321	39105	NM_005359.5(SMAD4):c.1499T>C (p.Ile500Thr)	SMAD4	Oct 26, 2017	MedGen:C0796081,OMIM:139210,Orphanet:ORPHA2588;MedGen:CN517202	Myhre syndrome;not provided	germline;unknown	18	51078307	TTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG
794727060	191203	NM_001848.2(COL6A1):c.957+2T>C	COL6A1	Aug 06, 2014	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	45990286	AGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCT
587777557	150290	NM_018400.3(SCN3B):c.482T>C (p.Met161Thr)	SCN3B	Mar 01, 2011	MedGen:CN220307	Atrial fibrillation, familial, 16	germline	11	123638288	AGGACTTCACCTCTGTGGTCTCAGAAATCATGATGTACATCCTTCTGGTCTTCCTCACCTT
878854408	243828	NM_000261.1(MYOC):c.1111T>C (p.Tyr371His)	MYOC	Sep 01, 2008	Human Phenotype Ontology:HP:0012108,MedGen:C0339573,OMIM:137760,SNOMED CT:77075001	Primary open angle glaucoma	germline	1	171636329	CCTGGAGCTGGCTACCACGGACAGTTCCCGTATTCTTGGGGTGGCTACACGGACATTGACT
397514399	36394	NM_000060.4(BTD):c.1096T>C (p.Ser366Pro)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644952	CCATCCCATAGTAAGTTTTTAAAAATTTTGTCAGGCGATCCGTACTGTGAGAAGGATGCTC
387906575	33079	NM_000488.3(SERPINC1):c.68T>C (p.Leu23Pro)	SERPINC1	Dec 15, 1998	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173914893	GCAGGAAGGTTTATCTTTTGTCCTTGCTGCTCATTGGCTTCTGGGACTGCGTGACCTGTCA
587778839	132317	NM_000321.2(RB1):c.2663+2T>C	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48476845	ATTGAAGGATCAGATGAAGCAGATGGAAGGTAGGAACCAGTTTTGAATGTTTTCCAGTAGC
104893708	23385	NM_000388.3(CASR):c.374T>C (p.Leu125Pro)	CASR	Sep 01, 2002	MedGen:C0342345,OMIM:601198;MedGen:CN178679	Hypocalcemia, autosomal dominant 1;Hypocalcemia, autosomal dominant 1, with bartter syndrome	germline	3	122257269	TTGCTCAAAACAAAATTGATTCTTTGAACCTTGATGAGTTCTGCAACTGCTCAGAGCACAT
121909664	31292	NM_000145.3(FSHR):c.1634T>C (p.Ile545Thr)	FSHR	Feb 01, 2006	MedGen:C0085083,OMIM:608115,Orphanet:ORPHA64739,SNOMED CT:129635004	Ovarian hyperstimulation syndrome	germline	2	48963187	TTGTGCTCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATCCACATCTACCTCAC
587779684	107190	NM_000090.3(COL3A1):c.2553+2T>C (p.Gly816_Ala851del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189003064	CAGGACCCCCTGGAGGTTCTGGACCTGCTGTAAGTTCCTTCCTCTTTCTCTGTCTATCTAT
560596101	410967	NM_007194.3(CHEK2):c.444+2T>C	CHEK2	Jun 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	22	28725241	ACAGCAAGAAACACTTTCGGATTTTCAGGGTAGGTAATGAATACCCATGTATCTAGGAGAG
-1	440174	NM_001080463.1(DYNC2H1):c.7643T>C (p.Phe2548Ser)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	inherited	11	103192199	AAATTGTTGGTGCAAAGGAACTTCATTTATTTGACATCATTTTAACATCAGTGTTTCAAGG
587783801	170069	NM_000252.2(MTM1):c.1495T>C (p.Trp499Arg)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150663460	TAGAAGGTTACAGAAAGGACTGTTTCTTTATGGTCACTGATAAACAGTAATAAAGAAAAAT
387907151	40205	NM_001256714.1(DNAAF3):c.386T>C (p.Leu129Pro)	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	55165904	TTCTGGGCTCTGTGGATGGACGGCACCTGCTGCGGACCCTGTCCCGAGCGAAGTTCTGGCC
879254862	246097	NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113413	CTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGAT
869025271	222973	NM_177987.2(TUBB8):c.686T>C (p.Val229Ala)	TUBB8	Mar 02, 2017	MedGen:C4225210,OMIM:616780	Oocyte maturation defect 2	germline	10	47706	CACCCACCTATGGTGACCTGAACCACCTGGTGTCTGCTACCATGAGTGGGGTCACCACGTG
201430951	205774	NM_025152.2(NUBPL):c.311T>C (p.Leu104Pro)	NUBPL	Aug 27, 2013	MeSH:D030342,MedGen:C0950123;MedGen:C1838979,OMIM:252010	Inborn genetic diseases;Mitochondrial complex I deficiency	germline	14	31599308	TTTTTTTACAGTCCAAGGCCATTGGTTTGCTAGATGTGGATGTGTATGGACCTTCAGTTCC
35724775	30489	NM_000518.4(HBB):c.92+6T>C	HBB	Sep 17, 2017	MedGen:C3841475;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202;MedGen:CN169374	Beta-plus-thalassemia;beta Thalassemia;not provided;not specified	de novo;germline;unknown	11	5226924	AAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTTTAAGGAGAC
863223405	213952	NM_000359.2(TGM1):c.1363T>C (p.Trp455Arg)	TGM1	-	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24258324	AGGCCGGATCTGCCCTCGGGCTTTGATGGGTGGCAGGTGGTGGATGCCACACCCCAAGAGA
-1	465902	NM_000548.4(TSC2):c.1839+2T>C	TSC2	Feb 15, 2017	MedGen:C1860707,OMIM:613254	Tuberous sclerosis 2	germline	16	2070580	TGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCT
387906667	38780	NM_006902.4(PRRX1):c.338T>C (p.Phe113Ser)	PRRX1	Mar 01, 2011	MedGen:C1876185,OMIM:202650	Dysgnathia complex	germline	1	170719822	GCAGCCAGCTGCAGGCTTTGGAGCGTGTCTTTGAGCGGACACACTATCCTGATGCTTTTGT
879254905	246161	NM_000527.4(LDLR):c.1447T>C (p.Trp483Arg)	LDLR	Mar 15, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline	19	11113623	ATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACT
724159989	49378	NC_012920.1:m.7505T>C	MT-TS1	May 01, 2010	MedGen:C3151897,OMIM:500008	Deafness, nonsyndromic sensorineural, mitochondrial	germline	MT	7505	GCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTTTTTCAAAAAGGTATTAGAAAAACCA
875989919	228167	NM_000527.4(LDLR):c.1330T>C (p.Ser444Pro)	LDLR	Jun 08, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline	19	11113421	ACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGT
121965043	15195	NM_000274.3(OAT):c.1205T>C (p.Leu402Pro)	OAT	Feb 01, 2018	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124398057	AGGTGTGTCTACGACTTCGAGATAATGGACTTCTGGCCAAGCCAACCCATGGCGACATTAT
28937908	19099	NM_012213.2(MLYCD):c.119T>C (p.Met40Thr)	MLYCD	Oct 01, 2003	MedGen:C0342793,OMIM:248360,Orphanet:ORPHA943,SNOMED CT:124594007,SNOMED CT:361203007	Deficiency of malonyl-CoA decarboxylase	germline	16	83899263	GGCAGGCGGCCGGCGCCCTGGAGCGGGCCATGGACGAGCTGCTGCGCCGCGCGGTGCCGCC
122459149	26596	NM_001159702.2(FHL1):c.625T>C (p.Cys209Arg)	FHL1	Jan 01, 2010	MedGen:C2749106	Emery-Dreifuss muscular dystrophy 6	germline	X	136208578	CGTTTCACCGCTGTGGAGGACCAGTATTACTGCGTGGATTGCTACAAGAACTTTGTGGCCA
200837270	20376	NM_015717.4(CD207):c.790T>C (p.Trp264Arg)	CD207	Jun 02, 2006	MedGen:C3150657,OMIM:613393	Birbeck granule deficiency	germline	2	70831747	GGCCTGACTAAAGCAGGGATGGAAGGGGACTGGTCCTGGGTGGATGACACGCCATTCAACA
267606889	24760	m.4681T>C	MT-ND2	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1838951	Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency	germline	MT	4681	TCACGCAAGCAACCGCATCCATAATCCTTCTAATAGCTATCCTCTTCAACAATATACTCTC
122445109	26782	NM_000489.4(ATRX):c.1226T>C (p.Leu409Ser)	ATRX	Feb 01, 2005	MedGen:C4016452	Mental retardation-hypotonic facies syndrome, X-linked	germline	X	77684030	TGGCTGATATTAAGAAGGCTCATCTTGCATTGGAAGAAGACTTAAATTCCGAGTTTCGAGC
587779429	106860	NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del)	COL3A1	Jul 24, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188998720	CCGGTGCACCTGGAGCTCCAGGAGGCAAGGTAGTATTTCAATTTATTCTCTACCTTCTTCA
1085307289	414233	NM_001204.6(BMPR2):c.1019T>C (p.Leu340Pro)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202530845	CCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAG
797044967	204596	NM_004700.3(KCNQ4):c.808T>C (p.Tyr270His)	KCNQ4	Aug 20, 2015	MedGen:C2677637,OMIM:600101	DFNA 2 Nonsyndromic Hearing Loss	germline	1	40819446	GAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGC
121908045	18714	NM_000403.3(GALE):c.548T>C (p.Leu183Pro)	GALE	Jan 25, 2011	MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004	UDPglucose-4-epimerase deficiency	germline	1	23797128	ACATCCCACAGACTTGGAACGCAGTGCTGCTGCGCTATTTCAACCCCACAGGTGCCCATGC
281860274	38768	NM_005211.3(CSF1R):c.2381T>C (p.Ile794Thr)	CSF1R	Jan 14, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150056280	TGCTGTTGACCAATGGTCATGTGGCCAAGATTGGGGACTTCGGGCTGGCTAGGGACATCAT
1060499808	389229	NM_000441.1(SLC26A4):c.2048T>C (p.Phe683Ser)	SLC26A4	Jun 04, 2016	MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Pendred's syndrome	germline	7	107704344	TCCTTTTTTATTTTTAGATTGTCAAAGAATTCCAAAGAATTGATGTGAATGTGTATTTTGC
137852352	25397	NM_007325.4(GRIA3):c.2117T>C (p.Met706Thr)	GRIA3	Nov 13, 2007	MedGen:C2678051,OMIM:300699,Orphanet:ORPHA364028	Mental retardation, X-linked, syndromic, wu type	germline	X	123464905	TTGCTGTGTACGAGAAAATGTGGTCTTACATGAAATCAGCGGAGCCATCTGTGTTTACCAA
199476119	24762	m.4160T>C	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	4160	CAGCATACCCCCGATTCCGCTACGACCAACTCATACACCTCCTATGAAAAAACTTCCTACC
121918773	79560	NM_006920.4(SCN1A):c.568T>C (p.Trp190Arg)	SCN1A	Nov 16, 2016	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	inherited;unknown	2	166054672	TTAGAAGATTTTACTTTCCTTCGGGATCCATGGAACTGGCTCGATTTCACTGTCATTACAT
74799832	28958	NM_020975.4(RET):c.2753T>C (p.Met918Thr)	RET	Oct 31, 2017	Human Phenotype Ontology:HP:0002019,MedGen:C0009806;Human Phenotype Ontology:HP:0000212,MedGen:C0017567;Human Phenotype Ontology:HP:0000316,MedGen:C0020534,OMIM:145400;Human Phenotype Ontology:HP:0000821,MedGen:C0020676,Orphanet:ORPHA181396;Human Phenotype Ontology:HP:0001382,MedGen:C1844820;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;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Human Phenotype Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED CT:86299006;Human Phenotype Ontology:HP:0012471,MedGen:C1836543;MedGen:C1833929;MedGen:CN517202;MedGen:CN169374	Constipation;Gingival overgrowth;Hypertelorism;Hypothyroidism;Joint hypermobility;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 of the thyroid gland;Pheochromocytoma;Short stature;Tetralogy of Fallot;Thick vermilion border;Thyroid carcinoma, sporadic medullary;not provided;not specified	germline;somatic;unknown	10	43121968	CTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTA
879253783	244085	NM_001127511.2(APC):c.-191T>C	APC	Jul 12, 2016	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112707527	CGCATTGTAGTCTTCCCACCTCCCACAAGATGGCGGAGGGCAAGTAGCAAGGGGGCGGGGT
193929352	34052	NM_000525.3(KCNJ11):c.755T>C (p.Val252Ala)	KCNJ11	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	17387337	ACGGCGTGGGTGGCAACAGCATCTTCCTGGTGGCCCCGCTGATCATCTACCATGTCATTGA
777821034	203863	NM_000026.3(ADSL):c.1339T>C (p.Ser447Pro)	ADSL	Jul 15, 2016	MedGen:CN517202	not provided	germline	22	40365027	CACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGG
398123325	419732	NM_000314.6(PTEN):c.463T>C (p.Tyr155His)	PTEN	Sep 19, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	10	87933222	TTTTTAAAGGCACAAGAGGCCCTAGATTTCTATGGGGAAGTAAGGACCAGAGACAAAAAGG
398123765	100166	NM_003494.3(DYSF):c.1284+2T>C	DYSF	Nov 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	71528403	TTGTGGAGGTCAGCTTTGCGGGGAAAATGGTAAGGAGCAAGGGAGCAGGAGGGTTCTCTCG
137854564	15410	NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro)	NF1	Nov 01, 2004	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31235630	TTTGTTCTCAGGATGAACTAGCTCGAGTTCTGGTTACTCTGTTTGATTCTCGGCATTTACT
587777786	166197	NM_032374.4(APOPT1):c.353T>C (p.Phe118Ser)	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	103571813	AACAGTTCTGGGCAAACCAGAATTTGACTTTTAGTAAGGTAAGTTTAAGTTTTAGATCAGA
29001584	17328	NM_015046.5(SETX):c.1166T>C (p.Leu389Ser)	SETX	Sep 30, 2014	MedGen:C1865409,OMIM:602433,Orphanet:ORPHA357043	Amyotrophic lateral sclerosis type 4	germline	9	132330432	GTCCTAACATGTATGAAGAAATGGAAACATTAGCCAGTGTACTTCAGTCAGATATTGGTCA
794729098	198389	NM_004572.3(PKP2):c.2386T>C (p.Cys796Arg)	PKP2	Feb 01, 2017	MedGen:C1836906,OMIM:609040;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided	germline	12	32796212	GACCTTCTCATTGAAACTACAGCCTCTGCCTGTTACACATTGAACAACATAATCCAAAACA
121908739	17004	NM_000022.3(ADA):c.320T>C (p.Leu107Pro)	ADA	Jul 05, 2017	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277;MedGen:CN517202	Severe combined immunodeficiency due to ADA deficiency;not provided	germline;unknown	20	44626498	ATGTGGAGGTGCGGTACAGTCCGCACCTGCTGGCCAACTCCAAAGTGGAGCCAATCCCCTG
66677059	103014	NM_000531.5(OTC):c.158T>C (p.Ile53Thr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367371	TCACTCTAAAAAACTTTACCGGAGAAGAAATTAAATATATGCTATGGCTATCAGCAGATCT
878854026	243267	NM_000527.4(LDLR):c.166T>C (p.Ser56Pro)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100321	TGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGT
28931611	31785	NM_001972.3(ELANE):c.211T>C (p.Cys71Arg)	ELANE	Nov 01, 2001	MedGen:C1859966,OMIM:202700	Severe congenital neutropenia autosomal dominant	germline	19	853019	GCGCCCAACTTCGTCATGTCGGCCGCGCACTGCGTGGCGAATGTGTGAGTAGCCGGGAGTG
387906443	25253	NM_000132.3(F8):c.1417T>C (p.Tyr473His)	F8	Aug 15, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154965996	CATGAATCAGGAATCTTGGGACCTTTACTTTATGGGGAAGTTGGAGACACACTGTTGGTAA
397514662	48742	NM_004376.6(COX15):c.1030T>C (p.Ser344Pro)	COX15	Mar 09, 2016	MedGen:C1850599;MedGen:CN517202	Leigh syndrome due to mitochondrial complex IV deficiency;not provided	germline	10	99716419	GTCACTGCCATTACAGTGCTCTACTTCCTCTCTCGGAGAATTCCCCTTCCTAGAAGGACCA
587779513	106958	NM_000090.3(COL3A1):c.2337+2T>C (p.Gly762_Lys779del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189001452	CTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGA
281875229	39302	NM_003072.3(SMARCA4):c.3032T>C (p.Met1011Thr)	SMARCA4	Mar 18, 2012	MedGen:C3553249,OMIM:614609;MedGen:CN517202	Mental retardation, autosomal dominant 16;not provided	germline	19	11024389	CTGCGCTGCAGCGAGTGCTCTACCGCCACATGCAGGCCAAGGGCGTGCTGCTGACTGATGG
63750315	16058	NM_020631.4(PLEKHG5):c.1940T>C (p.Phe647Ser)	PLEKHG5	Jul 01, 2007	MedGen:C1970211,OMIM:611067,Orphanet:ORPHA206580	Distal spinal muscular atrophy, autosomal recessive 4	germline	1	6469444	CTGACTTGGGCCTTCCCTAACCAGGGTCCTTCCTCCTTATCTACCTGAATGAGTTTCACAG
193929360	34017	NM_000352.4(ABCC8):c.257T>C (p.Val86Ala)	ABCC8	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	17474919	TCCTGACCTTCATGCTGCTCTTCGTCCTGGTGTGTGAGATTGCAGAGGGCATCCTGTCTGA
-1	444785	NM_000218.2(KCNQ1):c.943T>C (p.Tyr315His)	KCNQ1	Sep 11, 2017	MedGen:CN517202	not provided	germline	11	2583456	TCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCG
1131691730	422022	NM_000138.4(FBN1):c.6997+2T>C	FBN1	Sep 27, 2015	MedGen:CN517202	not provided	germline	15	48428344	CGCCAGCCCCAACCAGGACGAGTGCCTTGGTGAGTACAGTTGGCACCGCACTTTCCTAACC
797045021	205044	NM_001081550.1(THOC2):c.2399T>C (p.Ile800Thr)	THOC2	Aug 06, 2015	MedGen:C0796218,OMIM:300957,Orphanet:ORPHA457240	Mental retardation, X-linked 12	germline	X	123631770	CAGAAGATTATATAAAGCGAGTGCCTTCAATTGATGTACTCTGTAATGAATTTCATACACC
180177153	24980	NM_002764.3(PRPS1):c.869T>C (p.Ile290Thr)	PRPS1	Jan 01, 2010	MedGen:C1844677,OMIM:304500,OMIM:304590	Deafness, X-linked 1	germline	X	107649944	CCTGATTTCCTTTCTTGCCTTTCTAGGTGATTGACATCTCTATGATCCTTGCAGAAGCCAT
190314158	485737	NM_000163.4(GHR):c.364T>C (p.Trp122Arg)	GHR	Dec 10, 2012	MedGen:C0271568,OMIM:262500,Orphanet:ORPHA633,SNOMED CT:38196001	Laron-type isolated somatotropin defect	germline	5	42695014	TGTTACTTTAATTCATCGTTTACCTCCATCTGGATACCTTATTGTATCAAGCTAACTAGCA
866978361	414762	NM_206933.2(USH2A):c.5776+2T>C	USH2A	Apr 04, 2017	MedGen:CN517202	not provided	germline	1	216073095	TTACGAGGGTGGTCTCCAGCCTTTTACAGGTAATGTGGAGGTCCTCTAAATTAAATGTTAC
137852365	25166	NM_000132.3(F8):c.6554T>C (p.Leu2185Ser)	F8	Jan 01, 1990	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154863103	ATAGCATTCGCAGCACTCTTCGCATGGAGTTGATGGGCTGTGATTTAAATAGTAAGTGCCA
121912753	32817	NM_000342.3(SLC4A1):c.2317T>C (p.Ser773Pro)	SLC4A1	Jul 01, 2004	MedGen:C1969039	Renal tubular acidosis, distal, with normal red cell morphology	germline	17	44251583	CTGAGAGTGTGCGGCTCCCCCACAGGCCTGTCCATCCTCATGGAGCCCATCCTGTCCCGCA
121918038	28573	NM_000174.4(GP9):c.20T>C (p.Leu7Pro)	GP9	Jul 01, 2002	MedGen:C1856448	Bernard-Soulier syndrome type C	germline	3	129061759	CAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCAC
121918512	28284	NM_002739.4(PRKCG):c.355T>C (p.Ser119Pro)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	germline	19	53889707	AGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCA
-1	481971	NM_004523.3(KIF11):c.2T>C (p.Met1Thr)	KIF11	Dec 04, 2017	MedGen:CN517202	not provided	germline	10	92593377	CGGGCCTTGATTTTTTGGCGGGGACCGTCATGGCGTCGCAGCCAAATTCGTCTGCGAAGAA
869312135	214052	NM_000169.2(GLA):c.62T>C (p.Leu21Pro)	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	101407842	GCTGCGCGCTTGCGCTTCGCTTCCTGGCCCTCGTTTCCTGGGACATCCCTGGGGCTAGAGC
118192179	76870	NM_000540.2(RYR1):c.14378T>C (p.Leu4793Pro)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38579995	GCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGG
113860699	172116	NM_170707.3(LMNA):c.1968+2T>C	LMNA	Jan 08, 2015	MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004	Hutchinson-Gilford syndrome	germline	1	156138759	TCCTGGGCAACTCCAGCCCCCGAACCCAGGTGAGTTGTCTCTGCTTTGTCTCCAAATCCTG
-1	434371	NM_013227.3(ACAN):c.7064T>C (p.Leu2355Pro)	ACAN	Sep 28, 2017	Human Phenotype Ontology:HP:0010886,MedGen:C0029421,OMIM:165800,Orphanet:ORPHA2764,SNOMED CT:82562007	Osteochondritis dissecans	germline	15	88871499	AGCGCCGGTGTCGGGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGA
104894036	28663	NM_004577.3(PSPH):c.155T>C (p.Met52Thr)	PSPH	Feb 01, 2004	MedGen:C1291463,OMIM:614023,Orphanet:ORPHA79350,SNOMED CT:124432005	Deficiency of phosphoserine phosphatase	germline	7	56019720	TGGGTCTCCCTCCTAGGACACGGCGAGCCATGGGCGGGGCAGTGCCTTTCAAAGCTGCTCT
119463996	18243	NM_001079802.1(FKTN):c.527T>C (p.Phe176Ser)	FKTN	May 01, 2009	MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	germline	9	105604372	TGGCCACTCATGCGATCCACTTGGTAGTCTTTCATGAGAGGAGTGGCAACTACCTCTGGCA
587777510	143242	NM_022552.4(DNMT3A):c.2705T>C (p.Phe902Ser)	DNMT3A	Apr 01, 2014	MedGen:C4014545,OMIM:615879,Orphanet:ORPHA404443	Tatton-Brown-rahman syndrome	germline	2	25234313	CATGGAGCGTGCCAGTCATCCGCCACCTCTTCGCTCCGCTGAAGGAGTATTTTGCGTGTGT
587777114	106506	NM_003859.2(DPM1):c.742T>C (p.Ser248Pro)	DPM1	Feb 19, 2014	MedGen:C1837396,OMIM:608799,Orphanet:ORPHA79322	Congenital disorder of glycosylation type 1E	germline	20	50935173	GAATCCAAGTTGGGAGGAAATGAAATAGTATCTTTCTTGAAAGGATTATTGACTCTTTTTG
-1	437692	NM_001145112.1(PATL2):c.1224+2T>C	PATL2	Dec 22, 2017	MedGen:CN562785,OMIM:617743	OOCYTE MATURATION DEFECT 4	germline	15	44668978	TCCTGGTCCGGAGGGATGTGGCTGATCAGGTACTGTGGCATTGAGTGGAGAAGAGGATGGT
797044450	31007	NM_000515.4(GH1):c.291+6T>C	GH1	Jan 11, 2017	MedGen:C0271567,OMIM:173100,Orphanet:ORPHA231679,SNOMED CT:237687003	Autosomal dominant isolated somatotropin deficiency	germline	17	63918011	CAGGGAGGAAACACAACAGAAATCCGTGAGTGGATGCCTTCTCCCCAGGCGGGGATGGGGG
587777276	132019	NM_005654.5(NR2F1):c.755T>C (p.Leu252Pro)	NR2F1	Feb 06, 2014	MedGen:C3810363,OMIM:615722,Orphanet:ORPHA401777	Bosch-Boonstra-Schaaf optic atrophy syndrome	de novo;germline	5	93588208	ATCTGCAGATCACCGACCAGGTGTCCCTGCTACGCCTCACCTGGAGCGAGCTGTTCGTGCT
137853195	15466	NM_178012.4(TUBB2B):c.683T>C (p.Leu228Pro)	TUBB2B	Jun 01, 2009	MedGen:C2750247,OMIM:610031	Polymicrogyria, asymmetric	germline	6	3225406	CCACCCCCACCTACGGGGACCTCAACCACCTGGTGTCGGCCACCATGAGCGGGGTCACCAC
267606821	33459	NM_014053.3(FLVCR1):c.574T>C (p.Cys192Arg)	FLVCR1	Nov 12, 2010	MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628	Posterior column ataxia with retinitis pigmentosa	germline	1	212859026	GGCCTCAACTGCCTGGGTGCCTGGATCAAGTGCGGCAGTGTGCAGCAGCATCTCTTCTGGG
794726771	187860	NM_001165963.1(SCN1A):c.769T>C (p.Cys257Arg)	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	166051914	CTCTCAGATGTAATGATCCTGACTGTGTTCTGTCTGAGCGTATTTGCTCTAATTGGGCTGC
151340623	26838	NM_001127899.3(CLCN5):c.1768T>C (p.Ser590Pro)	CLCN5	Feb 01, 1996	MedGen:C1848336,OMIM:300009	Dent disease 1	germline	X	50090139	TTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTG
121909508	33410	NM_000751.2(CHRND):c.188T>C (p.Leu63Pro)	CHRND	May 01, 2008	MedGen:C4225371,OMIM:616322	Myasthenic syndrome, congenital, 3b, fast-channel	germline	2	232526664	ACGTTGCCCTGGCCCTCACACTCTCCAACCTCATCTCCCTGGTGAGAGGCCCTCCGGTGCT
1057518169	359658	NM_000238.3(KCNH2):c.3152+2T>C	KCNH2	Oct 27, 2016	MedGen:CN517202	not provided	germline	7	150947326	CTGGATGCCCTCCAGCGCCAGCTCAACAGGTGAGGGAGTGCAGGTGGGGTGGGGGGGCACG
863225144	214237	NM_001134831.1(AHI1):c.2173T>C (p.Trp725Arg)	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135433120	ACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCA
397515170	76166	NM_000548.4(TSC2):c.5160+2T>C	TSC2	Jan 11, 2018	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2088141	TGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGT
118203951	15901	NM_013319.2(UBIAD1):c.511T>C (p.Ser171Pro)	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	11274042	GCTCTTATCTACTTTGGAGGCCTGTCTGGCTCCTTTCTCTACACAGGAGGTAAGATTTGGC
28936077	26237	NM_139058.2(ARX):c.98T>C (p.Leu33Pro)	ARX	Apr 15, 2002	MedGen:C0796244,OMIM:300419	Mental retardation, with or without seizures, ARX-related, X-linked	germline	X	25015640	TGCTCTCCTCCTACTGCATCGACAGCATCCTGGGCCGGAGGAGCCCGTGCAAAATGCGGTT
137852617	24509	NM_000211.4(ITGB2):c.412T>C (p.Ser138Pro)	ITGB2	Jan 01, 1999	MedGen:C0272187	Leukocyte adhesion deficiency	germline	21	44903452	GACCTGTACTATCTGATGGACCTCTCCTACTCCATGCTTGATGACCTCAGGAATGTCAAGA
796053041	201437	NM_001165963.1(SCN1A):c.5567T>C (p.Met1856Thr)	SCN1A	Oct 04, 2012	MedGen:CN517202	not provided	germline	2	165991708	AACTCCAGCTCATTGCCATGGATTTGCCCATGGTGAGTGGTGACCGGATCCACTGTCTTGA
1131691989	421627	NM_000193.3(SHH):c.592T>C (p.Cys198Arg)	SHH	May 29, 2017	MedGen:CN517202	not provided	germline	7	155803697	GAGAACTCGGTGGCGGCCAAATCGGGAGGCTGCTTCCCGGGCTCGGCCACGGTGCACCTGG
879253740	244008	NM_006432.3(NPC2):c.82+2T>C	NPC2	Nov 11, 2014	MedGen:C1843366,OMIM:607625	Niemann-Pick disease type C2	germline	14	74493191	GGCCGAACCGGTGCAGTTCAAGGACTGCGGTGAGCCCCAGGCCCGCCCAAGGTTCCCGCGC
1131691793	421298	NM_001165963.1(SCN1A):c.5153T>C (p.Phe1718Ser)	SCN1A	May 22, 2017	MedGen:CN517202	not provided	germline	2	165992122	AGACCTTTGGCAACAGCATGATCTGCCTATTCCAAATTACAACCTCTGCTGGCTGGGATGG
-1	434262	NM_000527.4(LDLR):c.904T>C (p.Cys302Arg)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107478	CTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAG
193919341	48688	NM_000080.3(CHRNE):c.223T>C (p.Trp75Arg)	CHRNE	Mar 14, 2013	MedGen:C4225369,OMIM:616324	Myasthenic syndrome, congenital, 4b, fast-channel	germline	17	4902461	GAAAAAGAGGAGACTCTCACCACTAGCGTCTGGATTGGAATCGTGAGTCAAATCTGGGGAA
137854561	15397	NM_000267.3(NF1):c.6200T>C (p.Leu2067Pro)	NF1	Dec 01, 2001	MedGen:C1834235,OMIM:162210	Neurofibromatosis, familial spinal	germline	17	31336750	TTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGC
104894498	21025	NM_183235.2(RAB27A):c.389T>C (p.Leu130Pro)	RAB27A	Mar 28, 2003	MedGen:C1868679,OMIM:607624,Orphanet:ORPHA79477	Griscelli syndrome type 2	germline	15	55223967	ATGCATATTGTGAAAACCCAGATATAGTGCTGTGTGGAAACAAGAGTGATCTGGAGGACCA
886041897	264598	NM_015915.4(ATL1):c.478T>C (p.Ser160Pro)	ATL1	Aug 04, 2016	MedGen:CN517202	not provided	germline	14	50591595	ACCTTTGATAGTCAGTCAACTTTGAGAGATTCAGCCACAGTATTTGCCCTTAGCACAATGA
387906417	24574	NM_130439.3(MXI1):c.552+2T>C	MXI1	Mar 01, 1995	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	germline	10	110279296	TGCTCAACAAAGCCAAAGCACACATCAAGGTGAGAATTTTTACTTTCAGATTTGCACAATT
111033663	18654	NM_000155.3(GALT):c.221T>C (p.Leu74Pro)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34647227	CAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGA
80358089	46187	NM_007294.3(BRCA1):c.5074+2T>C	BRCA1	May 17, 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	43067606	AGAGACTACTCATGTTGTTATGAAAACAGGTATACCAAGAACCTTTACAGAATACCTTGCA
28942087	18705	NM_000229.1(LCAT):c.698T>C (p.Leu233Pro)	LCAT	Feb 01, 1993	MedGen:C0023195,OMIM:245900,Orphanet:ORPHA650	Norum disease	germline	16	67942413	AGGACCGCTTTATTGATGGCTTCATCTCTCTTGGGGCTCCCTGGGGTGGCTCCATCAAGCC
121434409	21504	NM_001003722.1(GLE1):c.2051T>C (p.Ile684Thr)	GLE1	Feb 01, 2008	MedGen:C2678471,OMIM:611890,Orphanet:ORPHA53696	Lethal arthrogryposis with anterior horn cell disease	germline	9	128541124	CTGACCAGAAATGTTTGCAACACAAGGACATTCCTGTCCCCAAGGGCTTTCTGACTTCCTC
1057519577	362390	NM_001733.4(C1R):c.1012T>C (p.Cys338Arg)	C1R	Aug 23, 2016	Gene:791254,MedGen:C0268347,OMIM:130080,Orphanet:ORPHA75392,SNOMED CT:50869007	Ehlers-Danlos syndrome, type 8	germline	12	7088636	TACCAGTTCCGTGACTACTTCATTGCTACCTGCAAGCAAGGCTACCAGCTCATAGAGGTAA
121918501	28322	NM_000141.4(FGFR2):c.868T>C (p.Trp290Arg)	FGFR2	Sep 17, 2016	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008;MedGen:CN231480	Crouzon syndrome;FGFR2 related craniosynostosis	germline	10	121520050	GTTTACAGTGATGCCCAGCCCCACATCCAGTGGATCAAGCACGTGGAAAAGAACGGCAGTA
267606892	24745	m.10563T>C	MT-ND4L	Nov 01, 1998	MedGen:CN029768	Familial colorectal cancer	germline	MT	10563	TATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTGTTCA
137854531	30970	NM_001077488.3(GNAS):c.299T>C (p.Leu100Pro)	GNAS	Sep 30, 2013	Human Phenotype Ontology:HP:0000852,MedGen:C0033806,OMIM:103580,Orphanet:ORPHA97593	Pseudohypoparathyroidism type 1A	germline	20	58903569	CAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTC
386833684	70872	NM_000481.3(AMT):c.471+2T>C	AMT	Nov 30, 2016	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	3	49420209	GCTGGGAGAAAGATTTGGCCCTCATGCAGGTATACCCCCTCTGTGTTCTAGACACCTTGTC
879254082	244235	NM_170707.3(LMNA):c.1540T>C (p.Trp514Arg)	LMNA	Mar 02, 2016	MedGen:CN517202	not provided	germline	1	156137164	GCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGA
121434464	24627	m.12297T>C	MT-TL2	Apr 01, 2001	MedGen:CN069296	Cardiomyopathy, mitochondrial	germline	MT	12297	CTTTTAAAGGATAACAGCTATCCATTGGTCTTAGGCCCCAAAAATTTTGGTGCAACTCCAA
180177197	186654	NM_000030.2(AGXT):c.322T>C (p.Trp108Arg)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240869326	GACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGC
1085307354	414309	NM_001204.6(BMPR2):c.1447T>C (p.Cys483Arg)	BMPR2	-	MedGen:C1969342	Pulmonary hypertension, primary, dexfenfluramine-associated	germline	2	202552749	GTGAGGTCACTCAAGGAGACAATCGAAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTTA
113993988	34188	NM_002863.4(PYGL):c.2461T>C (p.Tyr821His)	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	not provided	14	50905475	AAATTCTCCAGTGACCGAACAATTAAAGAATATGCCCAAAACATCTGGAACGTGGAACCTT
121434498	179828	NM_030662.3(MAP2K2):c.169T>C (p.Phe57Leu)	MAP2K2	Oct 13, 2014	MedGen:CN517202	not provided	germline	19	4117553	GACGAGCAGCAGAAGAAGCGGCTGGAAGCCTTTCTCACCCAGAAAGCCAAGGTCGGCGAAC
-1	439493	NM_153223.3(CEP120):c.2177T>C (p.Leu726Pro)	CEP120	Nov 06, 2017	MedGen:CN593637,OMIM:617761	JOUBERT SYNDROME 31	germline	5	123378355	TAATTGACTTGGAGAAGCGAGAGCAGCAGCTTGCTAGTGTGGAATCAGAGGTATGTCATTC
797044996	205001	NM_005097.3(LGI1):c.124T>C (p.Cys42Arg)	LGI1	Aug 27, 2015	MedGen:C1838062,OMIM:600512,Orphanet:ORPHA101046	Epilepsy, lateral temporal lobe, autosomal dominant	germline	10	93758268	ACTGAGGGGAAGAAACCAGCGAAGCCAAAATGCCCTGCCGTGTGTACTTGTACCAAAGATA
128621200	26415	NM_000061.2(BTK):c.1516T>C (p.Cys506Arg)	BTK	Oct 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101356102	CAGCAGCTGCTAGAGATGTGCAAGGATGTCTGTGAAGCCATGGAATACCTGGAGTCAAAGC
104894617	23467	NM_000304.3(PMP22):c.47T>C (p.Leu16Pro)	PMP22	Oct 18, 2012	MedGen:C0270911,OMIM:118220,Orphanet:ORPHA101081,SNOMED CT:40632002	Charcot-Marie-Tooth disease, type IA	germline	17	15260681	TGAGTATCATCGTCCTCCACGTCGCGGTGCTGGTGCTGCTGTTCGTCTCCACGATCGTCAG
794726761	187798	NM_001165963.1(SCN1A):c.2690T>C (p.Leu897Ser)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166038032	TGGGGGCTCTGGGAAATTTAACCCTCGTCTTGGCCATCATCGTCTTCATTTTTGCCGTGGT
587777624	153720	NM_005027.3(PIK3R2):c.1202T>C (p.Leu401Pro)	PIK3R2	Apr 01, 2014	MedGen:C1863924,OMIM:603387,Orphanet:ORPHA83473	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	germline	19	18163059	AGCCACTCACCTTCTGCTCCGTTGTGGACCTCATCAATCACTACCGCCACGAGTCTCTGGC
121908319	19645	NM_020427.2(SLURP1):c.229T>C (p.Cys77Arg)	SLURP1	Mar 01, 2004	MedGen:C0025221,OMIM:248300,Orphanet:ORPHA87503,SNOMED CT:239069005	Acroerythrokeratoderma	germline	8	142741226	CCCGTGGTGACCCGCTCCTGCTCCAGCTCCTGTGTGGCCACCGACCCCGACAGCATCGGGG
122456136	26658	NM_005183.3(CACNA1F):c.2267T>C (p.Ile756Thr)	CACNA1F	May 24, 2005	MedGen:C4016457	Congenital stationary night blindness, type 2A, severe	germline	X	49222576	CAGACATCCTGTTGAACGTGTTTCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGC
-1	442443	NM_000166.5(GJB1):c.266T>C (p.Leu89Pro)	GJB1	Feb 02, 2017	MedGen:CN118851;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;not provided	germline	X	71223973	TGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCA
187830361	45267	NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	MYBPC3	Jul 11, 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	47337729	AACGTGGGAGAGGACTCCTGCACAGTACAGTGGGAGCCGCCTGCCTACGATGGCGGGCAGC
121908525	20685	NM_000030.2(AGXT):c.731T>C (p.Ile244Thr)	AGXT	May 07, 2017	MedGen:C0020501,Orphanet:ORPHA416,SNOMED CT:17901006;MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria;Primary hyperoxaluria, type I	germline;unknown	2	240875159	AGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGA
-1	485843	NM_000044.4(AR):c.2155T>C (p.Trp719Arg)	AR	Jun 09, 2005	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67711671	GGAGAGAGACAGCTTGTACACGTGGTCAAGTGGGCCAAGGCCTTGCCTGGTAAGGAAAAGG
121918029	28615	NM_000301.3(PLG):c.1771T>C (p.Ser591Pro)	PLG	Jul 15, 1993	MedGen:C0521808	Dysplasminogenemia	germline	6	160736976	GTTGTAGGGGGGTGTGTGGCCCACCCACATTCCTGGCCCTGGCAAGTCAGTCTTAGAACAA
777539013	48464	NM_020376.3(PNPLA2):c.757+2T>C	PNPLA2	Dec 19, 2012	MedGen:C1853136,OMIM:610717,Orphanet:ORPHA98908	Neutral lipid storage disease with myopathy	germline	11	823589	GGATGGCCTGCGCTTTCTGCAGCGGAACGGTGCGCGGACCCGGGCGGGAGAGGGCGGGGTG
121908902	21421	NM_003880.3(WISP3):c.232T>C (p.Cys78Arg)	WISP3	Sep 01, 1999	MedGen:C0432215,OMIM:208230,Orphanet:ORPHA1159,SNOMED CT:254065005	Progressive pseudorheumatoid dysplasia	germline	6	112061174	GTGAGAGATGGCTGTGGATGCTGTAAAATCTGTGCCAAGCAACCAGGGGAAATCTGCAATG
5030809	17262	NM_000551.3(VHL):c.292T>C (p.Tyr98His)	VHL	May 03, 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	10142139	TGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCC
80356489	21962	NM_001164277.1(SLC37A4):c.352T>C (p.Trp118Arg)	SLC37A4	Aug 25, 2016	MedGen:C0268146,OMIM:232220,SNOMED CT:30102006;MedGen:CN517202	Glucose-6-phosphate transport defect;not provided	germline	11	119028223	TTCCTTAATGGCCTGGCCCAGGGGCTGGGCTGGCCCCCATGTGGGAAGGTCCTGCGGAAGG
1057515580	354282	NM_017644.3(KLHL24):c.2T>C (p.Met1Thr)	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	de novo;germline;not applicable	3	183650358	CAACAATTATATAGTCAACTGATGTAACAATGGTACTAATATTGGGACGCAGACTAAACAG
1114167316	247430	NM_001099952.2(ITPR1):c.5360T>C (p.Leu1787Pro)	ITPR1	Aug 01, 2016	MedGen:C1861732,OMIM:117360,Orphanet:ORPHA208513	Spinocerebellar ataxia 29	inherited	3	4735314	GTGACCGAGTGTTCCATGAAAGCATTCTCCTGGCCATTGCCCTTCTGGAAGGAGGCAACAC
104893876	33286	NM_001151.3(SLC25A4):c.293T>C (p.Leu98Pro)	SLC25A4	Dec 26, 2001	MedGen:C1836460,OMIM:609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	germline	4	185144945	ACTTCGCCTTCAAGGACAAGTACAAGCAGCTCTTCTTAGGGGGTGTGGATCGGCATAAGCA
137852455	25345	NM_000132.3(F8):c.6193T>C (p.Trp2065Arg)	F8	Jan 01, 1992	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154899946	TCTCTGTTTCTTTACTTGGGCAAAGGACAGTGGGCCCCAAAGCTGGCCAGACTTCATTATT
587783851	170008	NM_000252.2(MTM1):c.683T>C (p.Leu228Pro)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150645687	GCTTAAACTTTCTGACTTAACCATAGGTGCTGTCATGGATTCATCCAGAAAATAAGACGGT
61750581	15331	NM_000552.4(VWF):c.4837T>C (p.Ser1613Pro)	VWF	May 01, 2010	MedGen:CN517202;MedGen:C1282968,Orphanet:ORPHA166084	not provided;von Willebrand disease, type 2a	germline	12	6018581	CTGGTCTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACA
28936677	23742	NM_001122764.2(PPOX):c.35T>C (p.Ile12Thr)	PPOX	Feb 14, 2013	MedGen:C0162532,OMIM:176200,Orphanet:ORPHA79473,SNOMED CT:58275005;MedGen:C0342860	Variegate porphyria;Variegate porphyria, homozygous	germline	1	161166882	GCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAG
869320672	204352	NM_005589.3(ALDH6A1):c.514T>C (p.Tyr172His)	ALDH6A1	Jul 09, 2013	MedGen:C1864150,OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	germline	14	74071411	TCCATCACCAAAGACATGGACCTTTATTCCTACCGTCTGCCTCTGGGAGTGTGTGCAGGCA
368728467	207742	NM_000124.3(ERCC6):c.2551T>C (p.Trp851Arg)	ERCC6	Feb 24, 2015	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322	Cockayne syndrome B	germline	10	49474074	ATGATTGTTGTTGAGTCTTTGTTGAAAATATGGCACAAGCAGGGTCAGCGAGTATTGCTGT
121913045	31622	NM_000122.1(ERCC3):c.296T>C (p.Phe99Ser)	ERCC3	Nov 01, 2006	MedGen:C1970808,OMIM:610651	Xeroderma pigmentosum, complementation group b	germline	2	127292785	TCTCTCCAGTTTACAAATATGCCCAAGACTTCTTGGTGGCTATTGCAGAGCCAGTGTGCCG
281864973	47629	NM_024312.4(GNPTAB):c.1208T>C (p.Ile403Thr)	GNPTAB	May 10, 2012	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	not provided	12	101770097	ATCGCATCGAAGGGCTGTCCCAGAAGTTTATTTACCTAAATGATGATGTCATGTTTGGGAA
797044797	199815	NM_000543.4(SMPD1):c.416T>C (p.Leu139Pro)	SMPD1	Jun 18, 2015	MedGen:C0028064,SNOMED CT:58459009	Sphingomyelin/cholesterol lipidosis	germline	11	6391481	CACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAG
879254001	245007	NM_022041.3(GAN):c.633+2T>C	GAN	Sep 17, 2015	MedGen:CN517202	not provided	germline	16	81354757	GGATAGCACATGATACAGAAATAAGAAAGGTACCTGTCATTTATAACATGGTCAAATTTGC
72554627	31918	NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro)	CYP11B2	May 19, 1997	MedGen:CN074214,OMIM:203400	Corticosterone methyloxidase type 1 deficiency	germline	8	142912546	TCGGGCGGCGCCTGGCAGAGGCAGAGATGCTGCTGCTGCTGCACCACGTAAGCAGGCCTGG
145549969	439756	NM_014714.3(IFT140):c.2815T>C (p.Ser939Pro)	IFT140	Nov 22, 2017	MedGen:CN638473,OMIM:617781	RETINITIS PIGMENTOSA 80	germline	16	1525280	ACGCACCGCTTCGAGGTGCCCAGGATGCTGTCGGAGGACCTGCCGTCCCTGGAGCTCTACG
769825641	20412	NM_153694.4(SYCP3):c.657T>C (p.Thr219=)	SYCP3	Dec 16, 2011	MedGen:C0232981,OMIM:270960	Spermatogenesis arrest	germline	12	101729109	TATGTTGCAAAAAAAAATTATGATGGAAACTGTAAGTGATCATATTGAAATTGAAAAAATA
121964880	27267	NM_001692.3(ATP6V1B1):c.242T>C (p.Leu81Pro)	ATP6V1B1	Mar 01, 2013	MedGen:C4016429	Renal tubular acidosis, distal, with progressive deafness	germline	2	70958113	CAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCA
-1	488029	NM_000169.2(GLA):c.2T>C (p.Met1Thr)	GLA	Nov 03, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101407902	GAAATTTATGCTGTCCGGTCACCGTGACAATGCAGCTGAGGAACCCAGAACTACATCTGGG
797044827	204296	NM_020533.2(MCOLN1):c.1340T>C (p.Leu447Pro)	MCOLN1	Jul 30, 2015	MedGen:C0238286,OMIM:252650,Orphanet:ORPHA578,SNOMED CT:111384001	Mucolipidosis type IV	germline	19	7529693	TGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAAC
121917880	21134	NM_005413.3(SIX3):c.749T>C (p.Val250Ala)	SIX3	Aug 29, 2013	MedGen:C1834877,OMIM:157170	Holoprosencephaly 2	germline	2	44942853	CGCAGGCCACCGGCCTCACTCCCACACAAGTAGGCAACTGGTTTAAGAACCGGCGGCAGCG
672601318	171727	NM_000734.3(CD247):c.2T>C (p.Met1Thr)	CD247	Dec 16, 2013	MedGen:C1857798,OMIM:610163	Immunodeficiency due to defect in cd3-zeta	inherited	1	167518464	CCCAGCCTCTTTCTGAGGGAAAGGACAAGATGAAGTGGAAGGCGCTTTTCACCGCGGCCAT
121434455	22556	NM_000466.2(PEX1):c.1991T>C (p.Leu664Pro)	PEX1	Jun 05, 2014	MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:88469006	Zellweger syndrome	germline;unknown	7	92504812	TGCAGCCATCTGTTGTCCTGCTGGATGACCTTGACCTCATTGCTGGACTGCCTGCTGTCCC
121434564	31754	NM_203342.2(EPB41):c.2T>C (p.Met1Thr)	EPB41	Jan 01, 1995	MedGen:C2678497,OMIM:611804	Elliptocytosis 1	germline	1	28993490	CCCAAAAACCAATCAGAAAACACAGGAACATGCACTGCAAGGTTTCTTTGTTGGATGACAC
-1	417132	NM_019098.4(CNGB3):c.643+2T>C	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	unknown	8	86668017	ACTTCCAAACAGCATAGATTCATACACAGGTATTATCAAAGGGTGAATTATCATAGTGGGA
-1	477817	NM_004360.4(CDH1):c.2T>C (p.Met1Thr)	CDH1	Jun 24, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	68737417	CTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCT
-1	441498	NM_030962.3(SBF2):c.1053+2T>C	SBF2	Nov 01, 2016	MedGen:CN517202	not provided	germline	11	9993919	GAACAGCTTTATCCCACTCAAAAATGCTGGTAAGAAGTTTAATATTTAAATTTAATGCTGT
137852480	25073	NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro)	HPRT1	Sep 26, 2017	na;MedGen:C0023374,OMIM:300322,SNOMED CT:10406007	HPRT DETROIT;Lesch-Nyhan syndrome	germline	X	134473453	ATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAA
-1	455916	NM_000426.3(LAMA2):c.6268+2T>C	LAMA2	Jan 19, 2017	MedGen:CN117977	Laminin alpha 2-related dystrophy	germline	6	129441000	TGCTGTGGTTAAAGATCCTTCCAAGAACAGTAAGATCTCCTTTTTCATTGTGATGATGTCA
1057519779	363009	NM_004958.3(MTOR):c.4379T>C (p.Leu1460Pro)	MTOR	Apr 11, 2017	MedGen:C1846385,OMIM:607341,Orphanet:ORPHA268994;MedGen:C1378703	Focal cortical dysplasia type II;Kidney Carcinoma	somatic	1	11157242	ATGAGAAACTGCACGAGTGGGAGGATGCCCTTGTGGCCTATGACAAGAAAATGGACACCAA
72556253	103079	NM_000531.5(OTC):c.394T>C (p.Ser132Pro)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401282	ATCTTTTTCTTGGTTTGCCACAGTGTATTGTCTAGCATGGCAGATGCAGTATTGGCTCGAG
387906658	38756	NM_002465.3(MYBPC1):c.2566T>C (p.Tyr856His)	MYBPC1	Apr 01, 2010	MedGen:C3280526,OMIM:614335	Distal arthrogryposis type 1B	germline	12	101670362	ATTCGCATTCCAAGACACCTGAAGCAAACCTATATCCGCAGAGTTGGAGAAGCTGTCAATC
80338956	20962	NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)	SCN4A	Oct 12, 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	63957460	GGCCAACGCTGAACATGCTCATCAAGATCATTGGCAATTCAGTGGGGGCGCTGGGTAACCT
137852405	25235	NM_000132.3(F8):c.935T>C (p.Phe312Ser)	F8	Aug 15, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969405	AGGCGTCCTTGGAAATCTCGCCAATAACTTTCCTTACTGCTCAAACACTCTTGATGGACCT
1057519727	362854	NM_004667.5(HERC2):c.2264T>C (p.Leu755Ser)	HERC2	Oct 02, 2014	Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Neoplasm of the breast	somatic	15	28260829	TGCGCGTGACCAAGCCAGAACCTGCAGCATTGCCAGGACTGGACACCAAACACATAGTGGG
111033687	45903	NM_000155.3(GALT):c.416T>C (p.Leu139Pro)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647870	TGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGC
-1	426900	NM_001171.5(ABCC6):c.3032T>C (p.Leu1011Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16165897	GGCTGTTTGCCTCCATGGCTGCGGTGCTCCTAGGTGGGGCCCGGGCATCCAGGTTGCTCTT
137853077	22484	NM_000455.4(STK11):c.200T>C (p.Leu67Pro)	STK11	Jan 16, 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;unknown	19	1207113	AAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGT
121909139	22608	NM_001300.5(KLF6):c.346T>C (p.Ser116Pro)	KLF6	Dec 21, 2001	MedGen:C4015779	Prostate cancer, somatic	somatic	10	3781971	TCAGATGTCAGCAGCGAATCCTCTGACAGCTCCGAGGAACTTTCTCCCACGGCCAAGTTTA
72653773	427003	NM_001171.5(ABCC6):c.1603T>C (p.Ser535Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16190196	TTGCGGACCTCCGGCCTCCTCTTCTCTGTGTCGCTGGTGTCCTTCCAAGTGTCTACATTTC
121907888	19208	NM_018960.5(GNMT):c.149T>C (p.Leu50Pro)	GNMT	Jan 01, 2002	MedGen:C1847720,OMIM:606664,Orphanet:ORPHA289891	Glycine N-methyltransferase deficiency	germline	6	42960916	GCCGCACCGCCGAGTACAAGGCATGGCTGCTTGGGCTGCTGCGCCAGCACGGCTGCCAGCG
876657416	228234	NM_000260.3(MYO7A):c.1952T>C (p.Leu651Pro)	MYO7A	May 19, 2016	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77174772	TGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAAT
104886289	36107	NM_000495.4(COL4A5):c.4756T>C (p.Cys1586Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108694874	GTTCACAGTCAGACGATCCAGATTCCCCATTGTCCTCAGGGATGGGATTCTCTGTGGATTG
104895332	103493	NM_000431.3(MVK):c.608T>C (p.Val203Ala)	MVK	Nov 19, 2015	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002;MedGen:CN517202	Hyperimmunoglobulin D with periodic fever;not provided	germline	12	109586102	AGAGAATGATTCACGGGAACCCCTCCGGAGTGGACAATGCTGTCAGCACCTGGGGTAGGTG
63750004	103918	NM_000021.3(PSEN1):c.428T>C (p.Ile143Thr)	PSEN1	Feb 01, 2016	MedGen:CN517202	not provided	germline	14	73173655	TTCTGAATGCTGCCATCATGATCAGTGTCATTGTTGTCATGACTATCCTCCTGGTGGTTCT
121918006	28707	NM_000478.5(ALPL):c.1306T>C (p.Tyr436His)	ALPL	Oct 15, 1992	Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Infantile hypophosphatasia	germline	1	21576638	GGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGG
80356637	24141	NM_000352.4(ABCC8):c.394T>C (p.Phe132Leu)	ABCC8	Jul 05, 2011	MedGen:C1833102;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Diabetes mellitus, permanent neonatal, with neurologic features;Permanent neonatal diabetes mellitus	germline	11	17470119	GTCTACTATCACAACATCGAGACTTCCAACTTCCCCAAGCTGCTAATTGGTAGGTGAGGTG
547818652	265322	NM_000231.2(SGCG):c.581T>C (p.Leu194Ser)	SGCG	Aug 08, 2016	MedGen:C0410173,OMIM:253700,Orphanet:ORPHA353,SNOMED CT:240056002	Severe autosomal recessive muscular dystrophy of childhood - North African type	germline	13	23320639	TTTTTTGTGCTTCTTTTCCTCATCTCAGATTAGAATCCCCCACTCGGAGTCTAAGCATGGA
121909395	16358	NM_001174089.1(SLC4A11):c.589T>C (p.Ser197Pro)	SLC4A11	May 01, 2007	MedGen:C1857572,OMIM:217400,Orphanet:ORPHA1490	Corneal dystrophy and perceptive deafness	germline	20	3233937	GCCACAGTGACAGGGGTGCGGTACCAGCAGTCGTGGCTCTGCATCATGTGAGTTGCCAGGC
397514518	48112	NM_000344.3(SMN1):c.388T>C (p.Tyr130His)	SMN1	Feb 21, 2012	MedGen:C0152109,OMIM:253400,Orphanet:ORPHA83419,SNOMED CT:54280009	Kugelberg-Welander disease	germline	5	70942472	AGAGAAACCTGTGTTGTGGTTTACACTGGATATGGAAATAGAGAGGAGCAAAATCTGTCCG
796052007	200118	NM_000255.3(MUT):c.842T>C (p.Leu281Ser)	MUT	Aug 26, 2013	MedGen:CN517202	not provided	germline	6	49456149	CTGATGCCATTCTGGAGCTGGCCTATACTTTAGCAGATGGATTGGAGTACTCTAGAACTGG
104894587	20907	NM_004870.3(MPDU1):c.356T>C (p.Leu119Pro)	MPDU1	Dec 01, 2001	MedGen:C1836669,OMIM:609180,Orphanet:ORPHA79323	Congenital disorder of glycosylation type 1F	germline	17	7586745	TGATGCTCCAGACGATCACCATCTGCTTCCTGGTCATGCACTACAGAGGACAGACTGTGAA
-1	440912	NM_000426.3(LAMA2):c.3924+2T>C	LAMA2	Dec 13, 2016	MedGen:CN517202	not provided	germline	6	129315952	TGACAAGGCATGAAATTGAAATGACAGAGGTAAAGTTAGTCATTGTTTGGTGCAAAGATAC
104894135	16819	NM_000102.3(CYP17A1):c.316T>C (p.Ser106Pro)	CYP17A1	Oct 13, 2016	MedGen:CN042980;MedGen:CN517202	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency;not provided	germline	10	102835374	TGCTCTCTAAAGGCAACTCTAGACATCGCGTCCAACAACCGTAAGGGTATCGCCTTCGCTG
387907060	39896	NM_024753.4(TTC21B):c.2384T>C (p.Leu795Pro)	TTC21B	Mar 01, 2011	MedGen:C3151185,OMIM:613819	Asphyxiating thoracic dystrophy 4	germline	2	165911404	CTGGACAAAAGAATTATCTTTGCTATGACCTGGCTGAGCTCTTATTAAAATTGAAATGGTA
267607953	214582	NM_000251.2(MSH2):c.1276+2T>C	MSH2	Oct 31, 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;unknown	2	47429943	TGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGTGATTTTGTTTTTTTGTTTTCCTT
111033849	36484	NM_000155.3(GALT):c.328+2T>C	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647569	AGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAG
104894040	23920	NM_000193.3(SHH):c.349T>C (p.Trp117Arg)	SHH	Aug 29, 2013	MedGen:C1840529,OMIM:142945	Holoprosencephaly 3	germline	7	155806509	AACGCTTTGGCCATCTCGGTGATGAACCAGTGGCCAGGAGTGAAACTGCGGGTGACCGAGG
121912693	33156	NM_000341.3(SLC3A1):c.2033T>C (p.Leu678Pro)	SLC3A1	Apr 01, 1994	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	2	44320614	TTTCCAATCGAGCATGCTATTCCAGTGTACTGAACATACTGTATACCTCGTGTTAGGCACC
142186404	28579	NM_001001547.2(CD36):c.760T>C (p.Phe254Leu)	CD36	Apr 01, 2002	MedGen:C1842090,OMIM:608404	Platelet glycoprotein IV deficiency	germline	7	80669964	CCACTCGATTTTTAAACAGATGCAGCCTCATTTCCACCTTTTGTTGAGAAAAGCCAGGTAT
143601447	167431	NM_201631.3(TGM5):c.122T>C (p.Leu41Pro)	TGM5	Oct 06, 2016	MedGen:C1853354,OMIM:609796,Orphanet:ORPHA263534;MedGen:CN517202	Peeling skin syndrome, acral type;not provided	germline	15	43260468	TGCTTGTTCGCCGGGGCCAGGCCTTCAACCTCACCCTGTACTTCAGGAACCGGAGCTTCCA
-1	434155	NM_000384.2(APOB):c.13220T>C (p.Ile4407Thr)	APOB	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21002202	CAGTGAAATATTATGAACTTGAAGAAAAGATAGTCAGTCTGATCAAGAACCTGTTAGTTGC
2814778	33434	NM_002036.3(ACKR1):c.-67T>C	ACKR1	Dec 11, 2017	na;MedGen:C1970105;MedGen:C2676078,OMIM:611862	DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE;Plasmodium vivax, resistance to;White blood cell count quantitative trait locus 1	germline	1	159204893	CTGATGGCCCTCATTAGTCCTTGGCTCTTATCTTGGAAGCACAGGCGCTGACAGCCGTCCC
121434469	24644	m.4290T>C	MT-TI	May 01, 2004	MedGen:C4016614	Encephalopathy, familial progressive necrotizing	germline	MT	4290	CTAAGAAATATGTCTGATAAAAGAGTTACTTTGATAGAGTAAATAATAGGAGCTTAAACCC
1800463	33088	NM_001085.4(SERPINA3):c.233T>C (p.Leu78Pro)	SERPINA3	Sep 01, 1993	na	ANTICHYMOTRYPSIN BOCHUM 1	germline	14	94614674	CCCCTGATAAGAATGTCATCTTCTCCCCACTGAGCATCTCCACCGCCTTGGCCTTCCTGTC
796052870	203471	NM_018129.3(PNPO):c.2T>C (p.Met1Thr)	PNPO	Nov 26, 2012	MedGen:CN517202	not provided	germline	17	47941677	CAGCCGGGTCACGTGGCCGGCGGCCCCCCATGACGTGCTGGCTGCGGGGCGTCACGGCGAC
67016166	103094	NM_000531.5(OTC):c.443T>C (p.Leu148Ser)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401331	TATTGGCTCGAGTGTATAAACAATCAGATTTGGACACCCTGGCTAAAGAAGCATCCATCCC
886037943	248799	NM_004171.3(SLC1A2):c.254T>C (p.Leu85Pro)	SLC1A2	Sep 20, 2016	MedGen:C4310717,OMIM:617105	Epileptic encephalopathy, early infantile, 41	germline	11	35315079	TTATGTTAATAGCCTTCCCAGGGGATATACTCATGAGGATGCTAAAAATGCTCATTCTCCC
-1	481275	NM_001288653.1(CLTC):c.3152T>C (p.Leu1051Pro)	CLTC	Feb 02, 2018	MedGen:CN787270,OMIM:617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	germline	17	59681369	GTACACGTGTTATGGAGTATATTAACCGCCTGGATAATTATGATGCCCCAGATATTGCCAA
768434408	185757	NM_005957.4(MTHFR):c.1969T>C (p.Ter657Arg)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11790682	ACCCAGAATGCGAGAGAAACGGAGGCTCCATGACCCTGCGTCCTGACGCCCTGCGTTGGAG
121913042	31705	NM_001113755.2(TYMP):c.854T>C (p.Leu285Pro)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526650	AGCCCCTGGGTCGCTGCGTGGGCCACGCCCTGGAGGTGGAGGAGGCGCTGCTCTGCATGGA
80358086	46176	NM_007294.3(BRCA1):c.4986+6T>C	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	43070922	GTCTGGCCTGACCCCAGAAGAATTTGTGAGTGTATCCATATGTATCTCCCTAATGACTAAG
869312031	23102	NM_005570.3(LMAN1):c.1149+2T>C	LMAN1	Apr 03, 1998	MedGen:C1856883,OMIM:227300,Orphanet:ORPHA35909	Combined deficiency of factor V and factor VIII, 1	germline	18	59338758	GAGCAGGAATGCCTGGGCAGCATGGGCAGGTGGGCTTGCAGAATATGCAGATGTGCCCCAT
199476131	24660	m.5692T>C	MT-TN	Oct 28, 1994	MedGen:C4016605	Ophthalmoplegia, isolated	germline	MT	5692	CCAATGGGACTTAAACCCACAAACACTTAGTTAACAGCTAAGCACCCTAATCAACTGGCTT
80338848	19856	NM_000441.1(SLC26A4):c.707T>C (p.Leu236Pro)	SLC26A4	Oct 31, 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	107675051	CTGCTGCCTTCCAAGTGCTGGTCTCACAGCTAAAGATTGTCCTCAATGTTTCAACCAAAAA
179363890	79100	NM_000101.3(CYBA):c.155T>C (p.Leu52Pro)	CYBA	May 18, 2015	MedGen:CN517202	not provided	germline	16	88647149	TCAGTGTGGCGGGCGTGTTTGTGTGCCTGCTGGAGTACCCCCGGGGGAAGAGGAAGAAGGG
772508077	359506	NM_001059.2(TACR3):c.548+2T>C	TACR3	Nov 21, 2016	MedGen:CN517202	not provided	germline	4	103719126	TACTCCATGACGGCCATTGCGGTGGACAGGTGAGGAGAGGACAGACAGAGAGGAAAGAGGG
1057519606	362518	NM_016239.3(MYO15A):c.9229+2T>C	MYO15A	Mar 01, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	inherited	17	18159349	CAGCAAGATGGCCACCGACATGTTCCTAGGTGTGGGAGTGGGACTGCAGCCAGGGCTCTGG
121908449	20901	NM_003835.3(RGS9):c.895T>C (p.Trp299Arg)	RGS9	Jan 01, 2004	Human Phenotype Ontology:HP:0030511,MedGen:C1842073,OMIM:608415,Orphanet:ORPHA75374	Prolonged electroretinal response suppression	germline	17	65197160	GAAATCCCAACCAAGATGCGAGTGGAACGATGGGCCTTCAACTTCAGCGAATTGATCCGAG
267607463	77469	NM_005554.3(KRT6A):c.1393T>C (p.Tyr465His)	KRT6A	Apr 10, 2015	MedGen:CN517202	not provided	germline	12	52488359	AAGCTGGCCCTGGACGTGGAGATCGCCACCTACCGCAAGCTGCTGGAGGGTGAGGAGTGCA
879255700	247718	NM_014191.3(SCN8A):c.2537T>C (p.Phe846Ser)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51762669	ACGTGGAGGGGCTTTCAGTGCTGCGATCTTTCCGATTGGTATTCCATATTTCTCCAATTTC
80338732	24974	NM_002764.3(PRPS1):c.344T>C (p.Met115Thr)	PRPS1	Aug 26, 2008	MedGen:C1839566,OMIM:311070,Orphanet:ORPHA99014	Charcot-Marie-Tooth disease, X-linked recessive, type 5	germline	X	107640939	CGCCAATCTCAGCCAAGCTTGTTGCAAATATGCTATCTGTAGCAGGTGCAGATCATATTAT
34878913	30035	NM_000184.2(HBG2):c.125T>C (p.Phe42Ser)	HBG2	May 01, 1995	MedGen:C3151421,OMIM:613977,Orphanet:ORPHA280615	Cyanosis, transient neonatal	germline	11	5254482	TCCTGGTTGTCTACCCATGGACCCAGAGGTTCTTTGACAGCTTTGGCAACCTGTCCTCTGC
886040944	262843	NM_000059.3(BRCA2):c.8487+2T>C	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32370559	TAATTATTCAAAGAGCATACCCTATACAGGTATGATGTATTCTTGAAACTTACCATATATT
387906733	38959	m.12201T>C	MT-TH	Oct 01, 2011	MedGen:C3151897,OMIM:500008	Deafness, nonsyndromic sensorineural, mitochondrial	germline	MT	12201	AATCTGACAACAGAGGCTTACGACCCCTTATTTACCGAGAAAGCTCACAAGAACTGCTAAC
267606788	31579	NM_000129.3(F13A1):c.728T>C (p.Met243Thr)	F13A1	Jul 15, 1994	Human Phenotype Ontology:HP:0040233,MedGen:C2750514,OMIM:613225	Factor xiii, a subunit, deficiency of	germline	6	6248382	ATGGCATCCTGGACACTTGCCTGTATGTGATGGACAGAGCACAAATGGACCTCTCTGGAAG
122445097	26765	NM_000489.4(ATRX):c.6250T>C (p.Tyr2084His)	ATRX	Mar 24, 1995	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847	ATR-X syndrome	germline	X	77574326	GAGGGGAAGTGGCTTCGAAACATTGACTATTACCGTTTAGATGGTTCCACTACTGCACAGT
104893911	31192	NM_001018077.1(NR3C1):c.1712T>C (p.Val571Ala)	NR3C1	Apr 01, 2002	MedGen:C1841973	Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance	germline	5	143300520	CTACGCTCAACATGTTAGGAGGGCGGCAAGTGATTGCAGCAGTGAAATGGGCAAAGGCAAT
121434484	23115	NM_000430.3(PAFAH1B1):c.505T>C (p.Ser169Pro)	PAFAH1B1	Aug 14, 2001	MedGen:C1848201,Orphanet:ORPHA99796	Subcortical band heterotopia	unknown	17	2670268	GACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATT
61157095	18043	NM_000226.3(KRT9):c.503T>C (p.Leu168Ser)	KRT9	Jul 30, 2003	Human Phenotype Ontology:HP:0007559,MedGen:C1721006,OMIM:144200,Orphanet:ORPHA2199;MedGen:CN517202	Epidermolytic palmoplantar keratoderma;not provided	germline	17	41571490	AGGAACTCAATTCTCGGCTGGCCTCTTACTTGGATAAGGTGCAGGCTCTAGAGGAGGCCAA
1064793243	407990	NM_000314.6(PTEN):c.323T>C (p.Leu108Pro)	PTEN	Dec 01, 2014	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	10	87933082	TAGAACTTATCAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCA
761991070	247450	NM_002461.2(MVD):c.746T>C (p.Phe249Ser)	MVD	Jul 23, 2015	Gene:101101698,MedGen:C0265970,OMIM:614714,Orphanet:ORPHA79152	Porokeratosis 7, multiple types	germline	16	88655350	AGATGGCCCGCTGCATCCGGGAGCGAGACTTCCCCAGCTTCGCCCAGCTGACCATGAAGGA
118192123	76861	NM_000540.2(RYR1):c.7358T>C (p.Ile2453Thr)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38500640	TCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTT
797045190	206630	NM_033409.3(SLC52A3):c.49T>C (p.Trp17Arg)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	765726	CTGCTGGTCTGCGTCTTCGGAATGGGCTCCTGGGTGACCATCAATGGGCTCTGGGTAGAGC
587780059	133245	NM_000535.6(PMS2):c.2T>C (p.Met1Thr)	PMS2	May 19, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	germline	7	6009018	GTCCCCGAGGCGGATCGGGTGTTGCATCCATGGAGCGAGCTGAGAGCTCGAGGTGAGCGGG
1064793564	411205	NM_003639.4(IKBKG):c.1258T>C (p.Ter420Gln)	IKBKG	Apr 27, 2015	MedGen:CN517202	not provided	germline	X	154564459	CTGCAGATACATGTCATGGAGTGCATTGAGTAGGGCCGGCCAGTGCAAGGCCACTGCCTGC
1057517837	360046	NM_000359.2(TGM1):c.1082T>C (p.Ile361Thr)	TGM1	Jun 26, 2015	MedGen:CN517202	not provided	germline	14	24259152	ACCCATCAGCGTGGGTGGGCAGCGTGGAGATCCTGCTTAGCTACCTACGCACGGGATATTC
267607018	17233	NM_178857.5(RP1L1):c.2878T>C (p.Trp960Arg)	RP1L1	Sep 10, 2010	Human Phenotype Ontology:HP:0030636,MedGen:C3150833,OMIM:613587,Orphanet:ORPHA247834	Occult macular dystrophy	germline	8	10611220	CGCTCGTCTCCAGAGGCTGTGGTCCGCGAATGGCTGGACAACATTCCAGAAGAGCCCATAC
199474823	24665	m.2991T>C	MT-RNR2	Nov 11, 1981	MedGen:CN043118	Chloramphenicol resistance	germline	MT	2991	CCATATCAACAATAGGGTTTACGACCTCGATGTTGGATCAGGACATCCCGATGGTGCAGCC
879254855	246084	NM_000527.4(LDLR):c.1295T>C (p.Leu432Pro)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113386	TCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTA
387907164	40251	NM_020894.3(UVSSA):c.94T>C (p.Cys32Arg)	UVSSA	May 01, 2012	MedGen:C3553328,OMIM:614640	UV-sensitive syndrome 3	germline	4	1348185	CCTGAGAAAATGAAGGAACTGAAGAAAATTTGCAAGTATGTCTTAGGGTTCAGTAACAGTA
137853270	25858	NM_000444.5(PHEX):c.1664T>C (p.Leu555Pro)	PHEX	Oct 01, 1998	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22212922	TCCTTCTCATAGGATTTCCAGCAGGAGAGCTCCAGAAGCCTTTCTTTTGGGGAACAGAATA
-1	433344	NM_000020.2(ACVRL1):c.265T>C (p.Cys89Arg)	ACVRL1	Oct 16, 2016	MedGen:CN169374	not specified	germline	12	51913302	GGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACG
28934596	15051	NM_000410.3(HFE):c.314T>C (p.Ile105Thr)	HFE	Jun 01, 1999	MedGen:C3469186,OMIM:235200	Hemochromatosis type 1	germline	6	26091078	ATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGGTAT
267607244	49440	NM_000530.7(MPZ):c.266T>C (p.Ile89Thr)	MPZ	Oct 18, 2012	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	not provided	1	161306890	TCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCAT
606231254	167358	NM_005740.2(DNAL4):c.153+2T>C	DNAL4	Nov 01, 2014	MedGen:C4015124,OMIM:616059	Mirror movements 3	germline	22	38780924	CCTGTGAGAAATTCTCCAACAACAACGAGGTATTGCCAGCAGTGCAGGCGGCCCCTCGTGC
587777183	106807	NM_006702.4(PNPLA6):c.3053T>C (p.Phe1018Ser)	PNPLA6	Mar 04, 2014	MedGen:C1859093,OMIM:215470,Orphanet:ORPHA1180	Boucher Neuhauser syndrome	germline	19	7556526	CAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGA
137852644	24244	NM_002047.3(GARS):c.548T>C (p.Leu183Pro)	GARS	May 01, 2003	MedGen:C1833308,OMIM:600794,Orphanet:ORPHA139536	Distal hereditary motor neuronopathy type 5	germline	7	30601179	AACAGATCCTGGAGATCGATTGCACCATGCTCACCCCTGAGCCAGTTTTAAAGTGAGATCT
387906536	29415	NM_000239.2(LYZ):c.244T>C (p.Trp82Arg)	LYZ	Mar 01, 2002	MedGen:C0268389,OMIM:105200,Orphanet:ORPHA85450,SNOMED CT:66451004	Familial visceral amyloidosis, Ostertag type	germline	12	69350215	TATGGGATATTTCAGATCAATAGCCGCTACTGGTGTAATGATGGCAAAACCCCAGGAGCAG
111033549	32513	NM_000493.3(COL10A1):c.1951T>C (p.Trp651Arg)	COL10A1	Dec 26, 1995	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	germline	6	116120165	ATCATCGATCTCACAGAAAATGACCAGGTGTGGCTCCAGCTTCCCAATGCCGAGTCAAATG
-1	442182	NM_000435.2(NOTCH3):c.226T>C (p.Cys76Arg)	NOTCH3	Dec 01, 2016	MedGen:CN517202	not provided	germline	19	15192491	AGGTGCCCGCCTGGCTGGGTGGGTGAGCGGTGTCAGCTGGAGGACCCCTGTCACTCAGGCC
57599352	29678	NM_000424.3(KRT5):c.1388T>C (p.Leu463Pro)	KRT5	Feb 28, 2017	MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:90496008;MedGen:CN517202	Epidermolysis bullosa simplex, Koebner type;not provided	germline	12	52516688	ACCAGGAGCTCATGAACACCAAGCTGGCCCTGGACGTGGAGATCGCCACTTACCGCAAGCT
397507439	46923	NM_002769.4(PRSS1):c.116T>C (p.Val39Ala)	PRSS1	Mar 01, 2012	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Hereditary pancreatitis	germline	7	142750630	ACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGG
1057520200	364213	NM_000273.2(GPR143):c.2T>C (p.Met1Thr)	GPR143	Sep 13, 2016	MedGen:CN517202	not provided	germline	X	9765816	CACCCGAGCCGCGTCCGCGAACACAGCCCATGGCCTCCCCGCGCCTAGGGACCTTCTGCTG
80358547	66052	NM_000059.3(BRCA2):c.2T>C (p.Met1Thr)	BRCA2	Sep 26, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	32316462	CAAGCATTGGAGGAATATCGTAGGTAAAAATGCCTATTGGATCCAAAGAGAGGCCAACATT
879254991	246282	NM_000527.4(LDLR):c.1703T>C (p.Leu568Pro)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116210	AAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCC
786204056	186105	NM_000264.4(PTCH1):c.3168+2T>C	PTCH1	Sep 12, 2014	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002	Gorlin syndrome	germline	9	95458011	TTCTGAACCCCTGGACGGCCGGGATCATTGTGAGTGTATTATAAGGGGCTTTGTGGAAGTC
387907254	45623	NM_002501.3(NFIX):c.179T>C (p.Leu60Pro)	NFIX	Mar 01, 2012	MedGen:C3553660,OMIM:614753,Orphanet:ORPHA420179	Sotos syndrome 2	germline	19	13025172	AGGACGAGGAGCGGGCGGTGAAGGACGAGCTGCTGGGCGAGAAGCCCGAGATCAAGCAGAA
886037849	247546	NM_004004.5(GJB2):c.193T>C (p.Tyr65His)	GJB2	Nov 01, 1997	MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED CT:24559001	Mutilating keratoderma	germline	13	20189389	ACCCTGCAGCCAGGCTGCAAGAACGTGTGCTACGATCACTACTTCCCCATCTCCCACATCC
587783863	170019	NM_000252.2(MTM1):c.958T>C (p.Ser320Pro)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150649806	GACATTCATAATATTCATGTTATGCGGGAATCTTTAAAAAAAGTGAAGGACATTGTTTATC
1057517893	360637	NM_031407.6(HUWE1):c.12680T>C (p.Leu4227Ser)	HUWE1	Oct 10, 2016	MedGen:CN517202	not provided	germline	X	53534667	GAGCCATCCGCAAGCAGTTGGCGGCTTTCTTAGAAGGCTTCTATGAGATCATTCCAAAGCG
137852848	17707	NM_182760.3(SUMF1):c.1006T>C (p.Cys336Arg)	SUMF1	May 16, 2003	MedGen:C0268263,OMIM:272200,Orphanet:ORPHA585,SNOMED CT:54898003	Multiple sulfatase deficiency	germline	3	4376338	GACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGT
374993554	178380	NM_005641.3(TAF6):c.212T>C (p.Ile71Thr)	TAF6	Sep 22, 2016	Human Phenotype Ontology:HP:0001999,MedGen:C0424503;MedGen:C4310702,OMIM:617126;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:CN225415	Abnormal facial shape;Alazami-Yuan syndrome;Global developmental delay;Syndromic intellectual disability	biparental;germline	7	100113899	GGAAGCGGCAGAAGCTCACCACCAGTGACATTGACTACGCCTTGAAGCTAAAGAATGTCGA
387906665	38778	NM_005188.3(CBL):c.1186T>C (p.Cys396Arg)	CBL	Feb 19, 2014	MedGen:C4016301;MedGen:CN517202	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia;not provided	germline	11	119278256	GAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTA
104895382	103473	NM_000431.3(MVK):c.346T>C (p.Tyr116His)	MVK	Oct 25, 2017	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002;MedGen:CN517202	Hyperimmunoglobulin D with periodic fever;not provided	germline	12	109579921	CGCCTGGCTGTGCTGGCCTTTCTTTACTTATACCTGTCCATCTGCCGGAAGCAGAGGTGTG
759191907	446888	NM_000118.3(ENG):c.816+6T>C	ENG	Mar 20, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;Human Phenotype Ontology:HP:0002725,MedGen:C0024141,OMIM:152700,SNOMED CT:55464009	Osler hemorrhagic telangiectasia syndrome;Systemic lupus erythematosus	unknown	9	127825225	CGCCAACCACAACATGCAGATCTGGGTGAGTTGTGCGCAGCTCCCGGGACACAAAACCCAA
-1	485816	NM_000475.4(NR0B1):c.1340T>C (p.Leu447Pro)	NR0B1	May 18, 2016	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30304652	GATTCATCAATGCCAATGTCATTGCTGAACTGTTCTTCAGGCCCATCATCGGCACAGTCAG
118204452	16021	NM_024782.2(NHEJ1):c.367T>C (p.Cys123Arg)	NHEJ1	Jan 27, 2006	MedGen:C1969799,OMIM:611291,Orphanet:ORPHA169079	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	germline	2	219157495	TCTGGCCTCCCCTTCTATTGGAATTTCCACTGCATGCTAGCTAGTCCTTCCCTGGTAAGTG
775407864	204426	NM_152998.2(EZH2):c.149T>C (p.Leu50Ser)	EZH2	Apr 01, 2015	MedGen:C0265210,OMIM:277590,SNOMED CT:63119004	Weaver syndrome	maternal	7	148846567	GTATGTTTAGTTCCAATCGTCAGAAAATTTTGGAAAGAACGGAAATCTTAAACCAAGAATG
587783225	167642	NM_018136.4(ASPM):c.2419+2T>C	ASPM	Jan 19, 2016	MedGen:C1837501,OMIM:608716;MedGen:CN517202	Primary autosomal recessive microcephaly 5;not provided	germline	1	197133348	AAAAGATAGACACCTATGGAAAGATGTGGGTAAGAAGACTGCAGAAATCTTGACATTAATT
128621205	26423	NM_000061.2(BTK):c.1741T>C (p.Trp581Arg)	BTK	Oct 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101353879	TATAGCAAGTTCAGCAGCAAATCTGACATTTGGGCTTTTGGTAAGTGGATAAGATTACACA
879254783	245975	NM_000527.4(LDLR):c.1072T>C (p.Cys358Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111525	CTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCT
730880279	23408	NM_030653.3(DDX11):c.2271+2T>C	DDX11	Feb 23, 2016	MedGen:C3150658,OMIM:613398,Orphanet:ORPHA280558	Warsaw breakage syndrome	not provided	12	31102313	TGCTGCTGGCATATTCCAGGTGCATCCAGGTGCGGGCGTCATGCTGGGCTTGGGTCTGAGA
886043927	272765	NM_000302.3(PLOD1):c.1470+2T>C	PLOD1	Jun 08, 2016	MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED CT:25606004	Ehlers-Danlos syndrome, hydroxylysine-deficient	germline	1	11964787	TGGCCTTCTGTGCCAACATCCGGCAGCAGGTCAGCCAGGAGCGGGCAGCACAGGACGCCCT
587781927	151386	NM_000051.3(ATM):c.4776+2T>C	ATM	Nov 11, 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	11	108293479	ACAGTAGAGGACCCTTTTCACTCTTGGAGGTAATAAAAATTTCATCATCTACTATTTTTTA
113993993	18235	NM_016038.3(SBDS):c.258+2T>C	SBDS	May 18, 2017	MedGen:C2684859;MedGen:C0272170,OMIM:260400,Orphanet:ORPHA811,SNOMED CT:89454001;MedGen:CN517202;MedGen:CN169374	Aplastic anemia, susceptibility to;Shwachman syndrome;not provided;not specified	germline	7	66994210	CAGATGACCAAACTGAAATCTGTAAGCAGGTGGGTAACAGCTGCAGCATAGCTAACCCTAA
397509403	70485	NM_005236.2(ERCC4):c.706T>C (p.Cys236Arg)	ERCC4	May 02, 2013	MedGen:CN177726	Xeroderma pigmentosum, type f/Cockayne syndrome	germline	16	13928149	CAGACTGCTATACTGGACATTTTAAATGCATGTCTAAAGGAACTAAAATGCCATAACCCAT
587777316	132597	NM_001739.1(CA5A):c.697T>C (p.Ser233Pro)	CA5A	Jan 08, 2015	MedGen:C3810404,OMIM:615751,Orphanet:ORPHA401948	Carbonic anhydrase VA deficiency, hyperammonemia due to	germline	16	87891876	ACCTGCTGGGATTACTGGACCTACGCGGGCTCGCTCACCACCCCGCCGCTGACCGAGTCGG
104886423	36117	NM_000495.4(COL4A5):c.4803+121T>C	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108695042	CATAATAAGAAGCTTAAACTTCAAACAGCTTCTATCCAAGCACTGTGTTCCCCCTCACACA
886041018	263153	NM_006087.3(TUBB4A):c.1099T>C (p.Phe367Leu)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6495400	CCGCCCCGCGGCCTGAAGATGGCCGCGACCTTCATCGGCAACAGCACGGCCATCCAGGAGC
1085308046	416941	NM_000314.6(PTEN):c.401T>C (p.Met134Thr)	PTEN	Mar 01, 2017	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	PTEN hamartoma tumor syndrome	maternal	10	87933160	GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAA
869025669	224978	NM_023110.2(FGFR1):c.572T>C (p.Leu191Ser)	FGFR1	Jan 06, 2016	MedGen:C1845146,OMIM:615465,Orphanet:ORPHA2117	Hartsfield syndrome	germline	8	38427970	GTGGGACCCCAAACCCCACACTGCGCTGGTTGAAAAATGGCAAAGAATTCAAACCTGACCA
875989827	201016	NM_001206641.2(COA6):c.286T>C (p.Trp96Arg)	COA6	Jan 01, 2015	MedGen:C4225304,OMIM:616501	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	germline	1	234374303	CAGGTCTGCTGGGGGGCCCGGGATGAGTACTGGAAGTGTTTAGATGAGAACTTAGAGGATG
137854474	31489	NM_000138.4(FBN1):c.3793T>C (p.Cys1265Arg)	FBN1	Dec 01, 1998	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48483863	ACAAATATCCCTGGAGAGTACAGGTGCTTGTGTTATGATGGATTCATGGCATCTGAAGACA
28933378	28572	NM_000174.4(GP9):c.70T>C (p.Cys24Arg)	GP9	Oct 14, 2014	MedGen:C0005129,OMIM:231200,Orphanet:ORPHA274,SNOMED CT:234478007,SNOMED CT:54569005;MedGen:C1856448	Bernard Soulier syndrome;Bernard-Soulier syndrome type C	germline	3	129061809	GCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGC
137852268	25666	NM_000133.3(F9):c.1328T>C (p.Ile443Thr)	F9	Jun 01, 1991	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139562013	AAGAGTGTGCAATGAAAGGCAAATATGGAATATATACCAAGGTATCCCGGTATGTCAACTG
515726159	131996	NM_021625.4(TRPV4):c.1787T>C (p.Leu596Pro)	TRPV4	Apr 02, 2014	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Skeletal dysplasia	germline	12	109792689	GGATGAATGCCCTTTACTTCACCCGTGGGCTGAAGCTGACGGGGACCTATAGCATCATGAT
80338702	22757	NM_000303.2(PMM2):c.395T>C (p.Ile132Thr)	PMM2	Jun 03, 2014	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002	Carbohydrate-deficient glycoprotein syndrome type I	germline;unknown	16	8811126	TCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCAT
104894948	26552	NM_001011658.3(TRAPPC2):c.248T>C (p.Phe83Ser)	TRAPPC2	Jun 01, 2001	MedGen:C0220776,OMIM:313400,SNOMED CT:51952004	Spondyloepiphyseal dysplasia tarda	germline	X	13716080	ATTATGCCTTAATTATTTCACATATGAGGTTTATTATGCTTCATGACATAAGACAAGAAGA
869025611	224869	NM_177987.2(TUBB8):c.1088T>C (p.Met363Thr)	TUBB8	Jan 21, 2016	MedGen:C4225210,OMIM:616780	Oocyte maturation defect 2	germline	10	47304	TCTGTGACATCCCACCCCGGGGGCTAAAAATGTCAGCCACCTTCATTGGGAATAATACGGC
1064794334	406899	NM_012434.4(SLC17A5):c.1259+2T>C	SLC17A5	Mar 02, 2017	MedGen:CN517202	not provided	germline	6	73610398	AGCATCAACCATCTGGATATTGCTCCTTCGTGAGTACTAATATAAAGATTTGCTGTGATTG
869025197	181505	NM_006912.5(RIT1):c.265T>C (p.Tyr89His)	RIT1	Mar 28, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN517202	Noonan syndrome;not provided	germline;unknown	1	155904475	TAGGCAGAGTTTACAGCCATGCGGGACCAGTATATGAGGGCAGGAGAAGGGTTTATCATCT
387907046	39861	NM_058246.3(DNAJB6):c.277T>C (p.Phe93Leu)	DNAJB6	Mar 01, 2012	MedGen:C3148763,OMIM:603511,Orphanet:ORPHA34517	Limb-girdle muscular dystrophy, type 1E	germline	7	157367414	TTTGACAGTCCATTTGAATTTGGCTTCACATTCCGTAACCCAGATGATGTCTTCAGGGAAT
121909182	23051	NM_001089.2(ABCA3):c.302T>C (p.Leu101Pro)	ABCA3	Mar 25, 2004	MedGen:C1970456,OMIM:610921,Orphanet:ORPHA440402	Surfactant metabolism dysfunction, pulmonary, 3	germline	16	2326027	AGACCGTCACTGAGACAGTGCGCAGGGCACTTGTGATCAACATGCGAGGTGAGACATGCCG
120074115	17622	NM_000483.4(APOC2):c.142T>C (p.Trp48Arg)	APOC2	Jun 30, 1993	na;MedGen:C1720779,OMIM:207750,Orphanet:ORPHA309020	APOLIPOPROTEIN C-II (WAKAYAMA);Apolipoprotein C2 deficiency	germline	19	44948787	ACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACC
267606652	33432	NM_001004127.2(ALG11):c.257T>C (p.Leu86Ser)	ALG11	Apr 15, 2010	MedGen:C3150913,OMIM:613661,Orphanet:ORPHA280071	Congenital disorder of glycosylation type 1P	germline	13	52019125	GAGGAGGAGAAAGAGTTTTATGGTGTGCTTTAAGAGCCCTGCAGAAAAAGTAGGTATCCAT
199476117	24753	m.10158T>C	MT-ND3	Aug 26, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1838951;MedGen:C1838979,OMIM:252010;MedGen:CN517202	Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency;not provided	germline	MT	10158	CTACCACAACTCAACGGCTACATAGAAAAATCCACCCCTTACGAGTGCGGCTTCGACCCTA
397514412	36409	NM_000060.4(BTD):c.1267T>C (p.Cys423Arg)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645123	GGCTATCTCCACGTCTGTTCCAATGGCCTCTGCTGTTATTTACTTTACGAGAGGCCCACCT
66864704	426998	NM_001171.5(ABCC6):c.1703T>C (p.Phe568Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16188907	CCGAGAATGCTATGAATGCAGAGAAAGCCTTTGTGACTCTCACAGTTCTCAACATCCTCAA
121918100	28505	NM_000371.3(TTR):c.265T>C (p.Tyr89His)	TTR	Apr 15, 2016	MedGen:C3151470;MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED;Amyloidogenic transthyretin amyloidosis	germline	18	31595184	ACAACTGAGGAGGAATTTGTAGAAGGGATATACAAAGTGGAAATAGACACCAAATCTTACT
886041633	264006	NM_006516.2(SLC2A1):c.937T>C (p.Ser313Pro)	SLC2A1	Mar 09, 2016	MedGen:CN517202	not provided	germline	1	42929245	GTGCAGCAGCCTGTGTATGCCACCATTGGCTCCGGTATCGTCAACACGGCCTTCACTGTCG
879255293	262951	NM_007294.3(BRCA1):c.4675+2T>C	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43074329	AACATCTTACTTGCCAAGGCAAGATCTAGGTAATATTTCATCTGCTGTATTGGAACAAACA
180177230	200504	NM_000030.2(AGXT):c.497T>C (p.Leu166Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240871422	GGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTG
796052125	200979	NM_203290.3(POLR1C):c.436T>C (p.Cys146Arg)	POLR1C	Jul 07, 2015	MedGen:C4225305,OMIM:616494	Leukodystrophy, hypomyelinating, 11	germline	6	43520119	GATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATT
1800324	26028	NM_000531.5(OTC):c.332T>C (p.Leu111Pro)	OTC	Jan 26, 2017	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008	Ornithine carbamoyltransferase deficiency	germline	X	38381375	TTGCACTTCTGGGAGGACATCCTTGTTTTCTTACCACACAAGATATTCATTTGGGTGTGAA
199476398	39465	NM_016599.4(MYOZ2):c.142T>C (p.Ser48Pro)	MYOZ2	Jan 01, 2013	MedGen:C3151204,OMIM:613838;MedGen:CN517202	Familial hypertrophic cardiomyopathy 16;not provided	germline	4	119150937	ATCCCCAGAGACATCATGTTGGAAGAATTATCCCATCTCAGTAACCGTGGTGCCAGGCTAT
118203990	16330	NM_018006.4(TRMU):c.229T>C (p.Tyr77His)	TRMU	Sep 01, 2009	MedGen:C2751567,OMIM:613070	Liver failure acute infantile	germline	22	46337925	CCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGATGTGTTCAGGTGAGTGCGGG
118204004	16244	NM_000429.2(MAT1A):c.914T>C (p.Leu305Pro)	MAT1A	Oct 01, 1995	MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009	Hepatic methionine adenosyltransferase deficiency	germline	10	80275054	CATATGCTGCCCGCTGGGTGGCCAAGTCTCTGGTGAAAGCAGGGCTCTGCCGGAGAGTGCT
121434495	23077	NM_005535.2(IL12RB1):c.592T>C (p.Cys198Arg)	IL12RB1	Apr 18, 2013	MedGen:C4013949,OMIM:614891,Orphanet:ORPHA319552	Immunodeficiency 30	germline	19	18075857	TCGACCTGCCTCTCCCCAGAGTCCTGCCTCTGCCCCCTGGAGATGAATGTGGCCCAGGAAT
121909240	22889	NM_000314.6(PTEN):c.722T>C (p.Phe241Ser)	PTEN	Apr 01, 2005	MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548	Macrocephaly/autism syndrome	germline	10	87957940	CCACACGACGGGAAGACAAGTTCATGTACTTTGAGTTCCCTCAGCCGTTACCTGTGTGTGG
587781260	152952	NM_021209.4(NLRC4):c.1022T>C (p.Val341Ala)	NLRC4	May 11, 2015	MedGen:C4015067,OMIM:616050,Orphanet:ORPHA436166;MedGen:CN207522;MedGen:CN517202	Autoinflammation with infantile enterocolitis;Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4);not provided	de novo;germline;paternal	2	32250842	TGAGGAATCTCATGAAGACCCCTCTCTTTGTGGTCATCACTTGTGCAATCCAGATGGGTGA
81002885	66831	NM_000059.3(BRCA2):c.67+2T>C	BRCA2	Mar 02, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline;unknown	13	32316529	AATTTTTAAGACACGCTGCAACAAAGCAGGTATTGACAAATTTTATATAACTTTATAAATT
118204044	15800	NM_015702.2(MMADHC):c.776T>C (p.Leu259Pro)	MMADHC	Apr 03, 2008	MedGen:C1848553	Homocystinuria, cblD type, variant 1	germline	2	149570089	ACCGACATTTAGGATTCTCTGTTGATGACCTTGGATGCTGTAAAGTGATTCGTCATAGTCT
121909747	31143	NM_000340.1(SLC2A2):c.1166T>C (p.Leu389Pro)	SLC2A2	Nov 01, 2000	MedGen:C3495427,OMIM:227810,Orphanet:ORPHA2088,SNOMED CT:61598006	Fanconi-Bickel syndrome	germline	3	170999069	GTGCCATCTTCATGTCAGTGGGACTTGTGCTGCTGGTAAGTTTGGTGCCTGCACTGAGGTT
-1	440114	NM_052844.3(WDR34):c.935T>C (p.Phe312Ser)	WDR34	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	9	128635138	GGGTAGGCCAGCTGCAGCTCACAGAGGGCTTCGCCCTGGTCATGCAGCAGCTGCCACGGAG
786205144	187396	NM_001103.3(ACTN2):c.683T>C (p.Met228Thr)	ACTN2	Apr 20, 2015	MedGen:C2677338,OMIM:612158	Dilated cardiomyopathy 1AA	germline	1	236731300	TCGCTGAGAAGCACCTGGATATTCCTAAAATGTTGGATGCTGAAGGTGAGATGAAAATTGT
121918094	28496	NM_000371.3(TTR):c.95T>C (p.Leu32Pro)	TTR	Feb 01, 1999	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31592921	CCCAGGGCACCGGTGAATCCAAGTGTCCTCTGATGGTCAAAGTTCTAGATGCTGTCCGAGG
-1	442178	NM_000435.2(NOTCH3):c.316T>C (p.Cys106Arg)	NOTCH3	Oct 20, 2016	MedGen:CN517202	not provided	germline	19	15192401	TCAGTGGTGGCTGGCACCGCCCGATTCTCATGCCGGTGCCCCCGTGGCTTCCGAGGTGAGA
199472759	67597	NM_000218.2(KCNQ1):c.1016T>C (p.Phe339Ser)	KCNQ1	Nov 03, 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	2583529	CCTCCTGCTTCTCTGTCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTG
886039397	259919	NM_020822.2(KCNT1):c.1426T>C (p.Trp476Arg)	KCNT1	Sep 24, 2015	MedGen:CN517202	not provided	germline	9	135768853	CGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCC
121912461	29771	NM_000213.4(ITGB4):c.467T>C (p.Leu156Pro)	ITGB4	Apr 01, 1998	MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403	Epidermolysis bullosa junctionalis with pyloric atresia	germline	17	75727853	TGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGC
151054393	360189	NM_000359.2(TGM1):c.876+2T>C	TGM1	Sep 07, 2015	MedGen:CN517202	not provided	germline	14	24259938	TTGGTGAGCGGACCTGGAACTACGGCCAGGTATGGTGCGGCTGGCCAGGGTCACATACACC
72558484	102982	NM_000531.5(OTC):c.1005+2T>C	OTC	-	MedGen:CN517202	not provided	unknown	X	38412001	AGGCAGAAAACAGAAAGTGGACAATCATGGTAAGCAAGAAACAAGGAATGGAGGATAAGTT
387907073	39923	NM_032446.2(MEGF10):c.976T>C (p.Cys326Arg)	MEGF10	May 01, 2012	MedGen:CN124737	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	germline	5	127410447	TATGGCGTTCTCTGTGCTGAGACCTGCCAGTGTGTCAACGGAGGGAAGTGTTACCACGTGA
72556252	103078	NM_000531.5(OTC):c.392T>C (p.Leu131Ser)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401280	TTATCTTTTTCTTGGTTTGCCACAGTGTATTGTCTAGCATGGCAGATGCAGTATTGGCTCG
386134256	45194	NM_000244.3(MEN1):c.518T>C (p.Leu173Pro)	MEN1	Aug 18, 2011	MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006	Multiple endocrine neoplasia, type 1	germline	11	64808042	CCTTTGCTGTGGTTGGGGCCTGCCAGGCCCTGGGTCTCCGGGATGTCCACCTCGCCCTGTC
121434304	20886	NM_000843.3(GRM6):c.1214T>C (p.Ile405Thr)	GRM6	Jan 26, 2017	MedGen:C1850362,OMIM:257270;MedGen:CN517202	Congenital stationary night blindness, type 1B;not provided	germline	5	178989075	ACGAGCAGGAGGGCAAGGTGCAGTTTGTGATTGATGCGGTGTACGCCATTGCCCACGCCCT
199474817	24601	m.7512T>C	MT-TS1	Nov 01, 1998	MedGen:C3151970;MedGen:C4016626	MERRF/MELAS overlap syndrome;Mitochondrial cytochrome c oxidase deficiency	germline	MT	7512	TCAAGCCAACCCCATGGCCTCCATGACTTTTTCAAAAAGGTATTAGAAAAACCATTTCATA
121908929	21649	NM_004086.2(COCH):c.349T>C (p.Trp117Arg)	COCH	Nov 01, 1998	MedGen:C1832425,OMIM:601369	Deafness, autosomal dominant 9	germline	14	30878920	AATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGT
267607593	57248	NM_170707.3(LMNA):c.799T>C (p.Tyr267His)	LMNA	Aug 19, 2015	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	1	156134964	GAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGT
1085307156	414083	NM_001204.6(BMPR2):c.76+2T>C	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202377552	GACCATCCTGCTGGTCAGCACTGCGGCTGGTGAGTAGCTCCGGCCGGCACGTCCCGGCCAC
199476389	79048	NM_000487.5(ARSA):c.899T>C (p.Leu300Ser)	ARSA	Nov 14, 2012	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:CN517202	Metachromatic leukodystrophy;not provided	germline	22	50626234	GTATGTCCCGAGGCGGCTGCTCCGGTCTCTTGCGGTGTGGAAAGGGAACGACCTACGAGGG
267607119	16417	NM_153704.5(TMEM67):c.2498T>C (p.Ile833Thr)	TMEM67	Feb 23, 2015	MedGen:C1857662,OMIM:216360,Orphanet:ORPHA1454;MedGen:C1853153,OMIM:610688	COACH syndrome;Joubert syndrome 6	germline;unknown	8	93808898	TACCCAACACAGATGGTCAGACTTTTGAGATTGCAATTTCTAACCAGATGAGACAACATTA
886039807	260923	NM_001077418.2(TMEM231):c.665-11T>C	TMEM231	-	MedGen:CN199461,Orphanet:ORPHA140874	Joubert Syndrome and Related Disorders	germline	16	75541466	CAAACAGCCATCGTGGTTAATGGTTAATGATTGCATTGCAGTTACCACCGTCCTGAATGAT
137854563	15407	NM_000267.3(NF1):c.1070T>C (p.Leu357Pro)	NF1	Mar 01, 2000	MedGen:C1834235,OMIM:162210;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, familial spinal;Neurofibromatosis, type 1	germline	17	31201044	GTTTTCTGTTGGGGTTTTTATAGAACCTGCTTTTTAATCCAAGTAAGCCATTCTCAAGAGG
62638194	23047	NM_002905.3(RDH5):c.841T>C (p.Tyr281His)	RDH5	Feb 01, 2002	MedGen:C4016746	Fundus albipunctatus, autosomal recessive	germline	12	55724429	GCCCTGACTGCTCGACACCCCCGAACCCGCTACAGCCCAGGTTGGGATGCCAAGCTGCTCT
121918352	22664	NM_000214.2(JAG1):c.110T>C (p.Leu37Ser)	JAG1	Feb 15, 2001	MedGen:C1956125,OMIM:118450	Alagille syndrome 1	germline	20	10672978	AGGTGTGTGGGGCCTCGGGTCAGTTCGAGTTGGAGATCCTGTCCATGCAGAACGTGAACGG
397515533	76528	NM_001006657.1(WDR35):c.1592T>C (p.Leu531Pro)	WDR35	Feb 07, 2018	MedGen:C3150874,OMIM:613610	Cranioectodermal dysplasia 2	germline	2	19946536	GTGAATCTGGCACCATTCAGAGATACAGTCTACCTAATGTTGGTTTGATTCAAAAATATTC
1057519443	362135	NM_033066.2(MPP4):c.946T>C (p.Trp316Arg)	MPP4	-	Human Phenotype Ontology:HP:0001290,MedGen:C1858120;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0000218,MedGen:C0240635;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;Human Phenotype Ontology:HP:0000486,MedGen:C0038379;Human Phenotype Ontology:HP:0000431,MedGen:C1849367	Generalized hypotonia;Global developmental delay;High palate;Intellectual disability;Seizures;Strabismus;Wide nasal bridge	de novo	2	201675255	TTTCCCCCCCATAGGAAGCAACGGGAATTCTGGTGGTCTCAGCCGTACCAGCCTCACACCT
281865564	39687	NM_153026.2(PRICKLE1):c.1414T>C (p.Tyr472His)	PRICKLE1	Dec 08, 2011	MedGen:C2676254,OMIM:612437	Progressive myoclonus epilepsy with ataxia	germline	12	42464620	CTTGCAAGTAAAAAATACCAGTCTGATATGTACTGGGCACAGTCACAAGATGGACTGGGCG
745756308	216928	NM_006895.2(HNMT):c.623T>C (p.Leu208Pro)	HNMT	Oct 15, 2015	MedGen:C4225220,OMIM:616739	Mental retardation, autosomal recessive 51	germline	2	138013874	ATATCACATCAGATGACCTCACTCAGATGCTGGACAACCTAGGGCTTAAGTATGAGTGCTA
121913642	29147	NM_000257.3(MYH7):c.1594T>C (p.Ser532Pro)	MYH7	Dec 15, 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	23427879	CTCCTGCTTCCTCAGCCCATGGGCATCATGTCCATCCTGGAAGAGGAGTGCATGTTCCCCA
879255000	246301	NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11116882	TGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAA
267607519	77398	NM_002055.4(GFAP):c.739T>C (p.Ser247Pro)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44913310	GAGATCCGCACGCAGTATGAGGCAATGGCGTCCAGCAACATGCATGAAGCCGAAGAGTGGT
863225013	213848	NM_004006.2(DMD):c.8390+2T>C	DMD	Mar 05, 2015	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31507279	GAACTTCGGAAAAAGTCTCTCAACATTAGGTAGGAAAAGATGTGGAGCAAAAAGGCCACAA
121908213	23528	NM_001127221.1(CACNA1A):c.2141T>C (p.Val714Ala)	CACNA1A	Nov 01, 1996	MedGen:C1832894,OMIM:141500	Familial hemiplegic migraine type 1	germline	19	13303580	CCCTCCTGAATGTGTTCTTGGCCATCGCTGTGGACAATCTGGCCAACGCCCAGGAGCTCAC
104894271	28795	NM_000315.3(PTH):c.52T>C (p.Cys18Arg)	PTH	Dec 11, 2007	MedGen:C1832648,OMIM:146200,Orphanet:ORPHA2238	Hypoparathyroidism familial isolated	germline	11	13492804	GCTAAAGTTATGATTGTCATGTTGGCAATTTGTTTTCTTACAAAATCGGATGGGAAATCTG
587776753	26555	NM_001011658.3(TRAPPC2):c.238+4T>C	TRAPPC2	Sep 01, 2003	MedGen:C0220776,OMIM:313400,SNOMED CT:51952004	Spondyloepiphyseal dysplasia tarda	germline	X	13716530	TTGTGTCGGCATTTGTCACTGCGGGGCATATCCTTACCTTCTTAGTAAAGGTAACTAACTA
121913152	29741	NM_000208.3(INSR):c.164T>C (p.Val55Ala)	INSR	Apr 01, 1992	MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005	Leprechaunism syndrome	germline	19	7267833	CTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCGAAGGACACTTGCAGATACTCTTGAT
779694939	214934	NM_001128227.2(GNE):c.740T>C (p.Val247Ala)	GNE	Mar 09, 2017	MedGen:C1833373,OMIM:600737;MedGen:C1853926,OMIM:605820;MedGen:CN517202	Inclusion body myopathy 2;Nonaka myopathy;not provided	germline	9	36236954	GTGATGATGTAAAATCTAAAGATTACATTGTTGCACTACAGCACCCTGTGACCACTGACAT
80338847	21946	NM_003002.3(SDHD):c.416T>C (p.Leu139Pro)	SDHD	Aug 30, 2012	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C1868633,OMIM:168000	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Paragangliomas 1	germline	11	112094906	TGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCAT
63750948	95816	NM_000249.3(MLH1):c.739T>C (p.Ser247Pro)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37014493	ACCCTAGCCTTCAAAATGAATGGTTACATATCCAATGCAAACTACTCAGTGAAGAAGTGCA
387906833	39206	NM_021252.4(RAB18):c.619T>C (p.Ter207Gln)	RAB18	Apr 08, 2011	MedGen:C3280203,OMIM:614222	Warburg micro syndrome 3	germline	10	27538049	GGAGCCTGTGGTGGTTATTGCTCTGTGTTATAAACTCTGGGAAATTCCATCTCTTGCATAT
121912823	32554	NM_020549.4(CHAT):c.1007T>C (p.Ile336Thr)	CHAT	May 01, 2003	MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Familial infantile myasthenia	germline	10	49627681	AGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCTTCCAACGAGGACGAGCG
121434353	17041	NM_199242.2(UNC13D):c.1208T>C (p.Leu403Pro)	UNC13D	Jan 01, 2006	MedGen:C1837174,OMIM:608898	Hemophagocytic lymphohistiocytosis, familial, 3	germline	17	75836662	AGGAGCTGGCCGCCTCATTCAGCTCCCTGCTGACCTACGGCCTCTCCCTCATCCGGAGGTT
28933970	28810	NM_006194.3(PAX9):c.62T>C (p.Leu21Pro)	PAX9	Aug 01, 2009	MedGen:C1970291,OMIM:604625	Tooth agenesis, selective, 3	germline	14	36662954	TGGGAGGAGTGTTCGTGAACGGGAGGCCGCTGCCCAACGCCATCCGGCTTCGCATCGTGGA
794726979	190743	NM_000350.2(ABCA4):c.1253T>C (p.Phe418Ser)	ABCA4	Aug 29, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94078693	TCTCTGTCTGGTTTTAGGCCAACTCAACTTTTGAAGAACTGGAACACGTTAGGAAGTTGGT
29001685	23465	NM_000396.3(CTSK):c.926T>C (p.Leu309Pro)	CTSK	Jul 19, 2014	MedGen:C0238402,OMIM:265800,Orphanet:ORPHA763,SNOMED CT:89647000	Pyknodysostosis	germline;unknown	1	150796863	GAGAAAACTGGGGAAACAAAGGATATATCCTCATGGCTCGAAATAAGAACAACGCCTGTGG
879254738	245894	NM_000527.4(LDLR):c.952T>C (p.Cys318Arg)	LDLR	Sep 15, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline	19	11110663	ATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACG
80358278	21285	NM_004700.3(KCNQ4):c.842T>C (p.Leu281Ser)	KCNQ4	Feb 17, 2011	MedGen:C2677637,OMIM:600101	DFNA 2 Nonsyndromic Hearing Loss	germline	1	40819882	CTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACC
199476109	24733	m.14487T>C	MT-ND6	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1838951;MedGen:C1838954	Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency;Striatal necrosis, bilateral, with dystonia	germline	MT	14487	TCGCTGTAGTATATCCAAAGACAACCATCATTCCCCCTAAATAAATTAAAAAAACTATTAA
587777581	151127	NM_004464.3(FGF5):c.520T>C (p.Tyr174His)	FGF5	Jul 22, 2014	MedGen:C0854699,OMIM:190330,Orphanet:ORPHA411788	Trichomegaly	germline	4	80286385	GAGCGTTTTCAAGAAAATAGCTATAATACCTATGCCTCAGCAATACATAGAACTGAAAAAA
121909379	23623	NM_000339.2(SLC12A3):c.2576T>C (p.Leu859Pro)	SLC12A3	Nov 06, 2014	MedGen:C0268450,OMIM:263800,Orphanet:ORPHA358,SNOMED CT:3188003	Familial hypokalemia-hypomagnesemia	germline;paternal	16	56894558	CAGGCCTCACCCTCCTCATTCCCTATCTCCTTGGCCGCAAGAGGAGGTGGAGCAAATGCAA
104894151	16845	NM_000102.3(CYP17A1):c.1358T>C (p.Phe453Ser)	CYP17A1	Sep 01, 2006	MedGen:C3277851	Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency	germline	10	102830871	TAGGTGAGATCCTGGCCCGCCAGGAGCTCTTCCTCATCATGGCCTGGCTGCTGCAGAGGTT
587777037	76342	NM_001283009.1(RTEL1):c.3730T>C (p.Cys1244Arg)	RTEL1	Aug 15, 2013	MedGen:C3554656,OMIM:615190	Dyskeratosis congenita, autosomal recessive, 5	germline	20	63695558	CCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGC
483353031	139326	NM_002136.3(HNRNPA1):c.841T>C (p.Phe281Leu)	HNRNPA1	-	MedGen:C0393665,SNOMED CT:230373008	Chronic progressive multiple sclerosis	somatic	12	54283901	TCAAATTTTGGACCCATGAAGGGAGGAAATTTTGGAGGCAGAAGCTCTGGCCCCTATGGCG
143149764	40059	NM_001243473.2(B9D1):c.400+2T>C	B9D1	Nov 06, 2015	MedGen:C3280155,OMIM:614209;MedGen:CN517202	Meckel syndrome, type 9;not provided	germline	17	19347782	GCCGTGCACGTGCCCTTCTCACCTGGCCGGTAGGTCCTCATTCTGACCTGGGCCCTGGGCA
587779426	106885	NM_000090.3(COL3A1):c.951+2T>C (p.Gly300_Ala317del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991724	GAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACA
1011539285	437693	NM_001145112.1(PATL2):c.953T>C (p.Ile318Thr)	PATL2	Oct 24, 2017	MedGen:CN562785,OMIM:617743	OOCYTE MATURATION DEFECT 4	germline	15	44669391	ATTCCCAGATGTTCCTTCAGTTACTAGAAATAGAGGAAGGCTGGAAGTATAGGCCTCCACC
207459996	24716	m.15572T>C	MT-CYB	Nov 01, 1998	MedGen:CN029768	Familial colorectal cancer	germline	MT	15572	CCCCACATCAAGCCCGAATGATATTTCCTATTCGCCTACACAATTCTCCGATCCGTCCCTA
121965008	15275	NM_000398.6(CYB5R3):c.446T>C (p.Leu149Pro)	CYB5R3	May 01, 2008	MedGen:C2749559	Methemoglobinemia, type I	germline	22	42628169	CCATTGAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAGGTGATTCGGGTCG
121908318	19644	NM_020427.2(SLURP1):c.43T>C (p.Trp15Arg)	SLURP1	Jan 01, 2003	MedGen:C0025221,OMIM:248300,Orphanet:ORPHA87503,SNOMED CT:239069005	Acroerythrokeratoderma	germline	8	142742343	TGGGCTGTGCAGCTGCTGCTCGTGGCAGCCTGGAGCATGGGCTGTGGTGAGTGGGCCGCAG
57837128	30950	NM_006121.3(KRT1):c.1436T>C (p.Ile479Thr)	KRT1	Jul 07, 2017	MedGen:C1843463,OMIM:607602,Orphanet:ORPHA281139;MedGen:CN517202	Ichthyosis, cyclic, with epidermolytic hyperkeratosis;not provided	germline	12	52676314	TGAACACAAAGCTGGCCCTGGATCTGGAGATTGCCACCTACAGGACCCTCCTGGAGGGAGA
431905520	102954	NM_014714.3(IFT140):c.4078T>C (p.Cys1360Arg)	IFT140	May 01, 2013	MedGen:C1849437,OMIM:266920,Orphanet:ORPHA140969	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	germline	16	1518320	ACAGAGGACCCCAAGGAGTCCATCAAGCAGTGTGAGCTGCTCCTGGAGGAACCAGACCTGG
-1	480764	NM_021911.2(GABRB2):c.730T>C (p.Tyr244His)	GABRB2	Jan 23, 2018	MedGen:CN757794,OMIM:617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	germline	5	161334854	CTCAGCTTTAAGCTTAAGAGAAACATTGGCTACTTTATCCTGCAAACATACATGCCTTCCA
1135401959	424938	NM_017613.3(DONSON):c.1337T>C (p.Met446Thr)	DONSON	Aug 04, 2017	MedGen:CN373593,OMIM:617604	MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES	germline	21	33581315	TGTCCCCTGTTGCTTTCCGAGGTGCCACAATGCAAATGCTTAAGGTAATAAAAGTCTGCAT
397514389	36382	NM_000060.4(BTD):c.833T>C (p.Leu278Pro)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644689	ACCCAACTGCCTGGATGAACCAGCTCCCACTCTTGGCAGCAATTGAGATTCAGAAAGCTTT
121908653	21350	NM_030761.4(WNT4):c.35T>C (p.Leu12Pro)	WNT4	Mar 01, 2008	MedGen:C2675014,OMIM:158330,Orphanet:ORPHA247768	Mullerian aplasia and hyperandrogenism	germline	1	22142888	GTCCCCGCTCGTGCCTGCGTTCGCTGCGCCTCCTCGTCTTCGCCGTCTTCTCAGCCGCCGC
869025562	224617	NM_001161404.1(LIMS2):c.953T>C (p.Leu318Pro)	LIMS2	Aug 12, 2016	MedGen:C4225192,OMIM:616827,Orphanet:ORPHA466801	Muscular dystrophy, limb-girdle, type 2W	germline	2	127639339	CGCTGGAGCTGAAGAAGCGGCTGAAGAAGCTGTCGGAGCTGACCTCCCGCAAGGCCCAGCC
267606976	21892	NM_016203.3(PRKAG2):c.1459T>C (p.Tyr487His)	PRKAG2	Feb 26, 2015	MedGen:C1833236,OMIM:600858;MedGen:CN517202	Familial hypertrophic cardiomyopathy 6;not provided	germline	7	151564203	TCATTACAGAATCTTGCTGCTGAGAAAACATACAATAACCTAGATATCACGGTGACCCAGG
387907072	39922	NM_032446.2(MEGF10):c.2320T>C (p.Cys774Arg)	MEGF10	Apr 25, 2017	MedGen:C3280679,OMIM:614399,Orphanet:ORPHA439212;MedGen:CN124737	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	not provided	5	127440825	GGAGCTGACTGCGACCACATTTCTGGGCAGTGTACTTGCCGCACTGGATTCATGGGACGGC
-1	425938	NM_130799.2(MEN1):c.912+2T>C	MEN1	Jun 02, 2017	MedGen:CN517202	not provided	germline	11	64807009	GGCCAGACCCACTCACCCTCTACCACAAGGTGGGGGCATCTAAGGAGGGTGCAGAAGGGAG
121434607	26665	NM_001493.2(GDI1):c.275T>C (p.Leu92Pro)	GDI1	Jul 12, 1996	MedGen:C3887939,OMIM:300849	X-Linked Mental Retardation 41	germline	X	154439027	CCCCCACAGGGCAGCTGGTAAAGATGCTACTGTATACAGAGGTGACTCGCTACCTGGACTT
121912463	29774	NM_000213.4(ITGB4):c.1684T>C (p.Cys562Arg)	ITGB4	Nov 01, 1998	MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403	Epidermolysis bullosa junctionalis with pyloric atresia	germline	17	75736077	GCAGACCGAGGACGCTGCTCCATGGGCCAGTGTGTGTGTGAGCCTGGTTGGACAGGCCCAA
-1	427006	NM_001171.5(ABCC6):c.1565T>C (p.Leu522Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16190234	ACAGAGTCCTGGGCATCCGAGGCCAGGAGCTGGGCGCCTTGCGGACCTCCGGCCTCCTCTT
879254791	354093	NM_000527.4(LDLR):c.1102T>C (p.Cys368Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111555	TGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCC
875989900	228135	NM_000527.4(LDLR):c.400T>C (p.Cys134Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline	19	11105306	CGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCC
267607155	27690	NM_001256850.1(TTN):c.2926T>C (p.Trp976Arg)	TTN	Oct 06, 2015	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	178782980	ATCTCTGGATACCCATCCCCGACAGTGACATGGTACAGGGAAGACTACCAAATCGAAAGTT
727503918	177021	NM_000126.3(ETFA):c.2T>C (p.Met1Thr)	ETFA	Jan 17, 2014	MedGen:C0268596,OMIM:231680,Orphanet:ORPHA26791,SNOMED CT:22886006;MedGen:CN517202	Glutaric aciduria, type 2;not provided	germline	15	76311387	AGGCCGAGGTTGCGGCGGAAGCGGAGACCATGTTCCGAGCGGCGGCTCCGGGGCAGCTCCG
121908418	20394	NM_014384.2(ACAD8):c.455T>C (p.Met152Thr)	ACAD8	Feb 01, 2007	MedGen:C1969809,OMIM:611283,Orphanet:ORPHA79159,SNOMED CT:445274004	Deficiency of isobutyryl-CoA dehydrogenase	germline	11	134258589	GGCACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACTGCCTCACTGA
104894769	26199	NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro)	CD40LG	Feb 12, 1993	MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088	Immunodeficiency with hyper IgM type 1	germline	X	136659093	ACTACACCATGAGCAACAACTTGGTAACCCTGGAAAATGGGAAACAGCTGACCGTTAAAAG
1135402737	424974	NM_015295.2(SMCHD1):c.320T>C (p.Leu107Pro)	SMCHD1	-	MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135	Arhinia choanal atresia microphthalmia	unknown	18	2666927	TATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTT
1131692061	424205	NC_012920.1:m.12271T>C	MT-TL2	May 22, 2017	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	MT	12271	CATGTCTAACAACATGGCTTTCTCAACTTTTAAAGGATAACAGCTATCCATTGGTCTTAGG
80356532	27949	NM_152296.4(ATP1A3):c.821T>C (p.Ile274Thr)	ATP1A3	May 04, 2014	MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Dystonia 12	de novo;germline	19	41985090	CATCAGGGCTGGAGGTGGGCAAGACGCCCATCGCCATCGAGATTGAGCACTTCATCCAGCT
587783521	169931	NM_178151.2(DCX):c.128T>C (p.Leu43Ser)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410271	CCCACTGTAGCTTCTACCGAACCAGAACCTTGCAGGCACTGAGTAATGAGAAGAAAGCCAA
886039415	259998	NM_130799.2(MEN1):c.668T>C (p.Leu223Pro)	MEN1	Mar 08, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	64807667	TCTCATCCCCCCCTAAGAGCTGGCTGTACCTGAAAGGATCATACATGCGCTGTGACCGCAA
121912563	23598	NM_000901.4(NR3C2):c.2771T>C (p.Leu924Pro)	NR3C2	Dec 01, 2000	MedGen:C1449842,OMIM:177735,Orphanet:ORPHA171871	Pseudohypoaldosteronism type 1 autosomal dominant	germline	4	148114132	CTGGGCAGAGCTGGCAGAGGTTCTACCAACTGACCAAGCTGCTGGACTCCATGCATGACGT
35710727	30070	NM_000559.2(HBG1):c.-251T>C	HBG1	Dec 01, 1986	MedGen:C4017538;MedGen:C1841621,OMIM:141749	British HPFH;Fetal hemoglobin quantitative trait locus 1	germline	11	5250055	AAAATTAGCAGTATCCTCTTGGGGGCCCCTTCCCCACACTATCTCAATGCAAATATCTGTC
397516659	53357	NM_001399.4(EDA):c.2T>C (p.Met1Thr)	EDA	Sep 21, 2017	Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468;MedGen:CN517202	Hypohidrotic ectodermal dysplasia;not provided	germline	X	69616310	CCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACT
28936680	29857	NM_001025107.2(ADAR):c.1883T>C (p.Leu628Pro)	ADAR	Sep 01, 2003	MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED CT:239085000	Symmetrical dyschromatosis of extremities	germline	1	154588668	TCCTAACCAGACTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAATGAAATACAACTCCCA
121909256	23097	NM_005055.4(RAPSN):c.416T>C (p.Phe139Ser)	RAPSN	Feb 01, 2008	MedGen:C1276035,OMIM:208150,SNOMED CT:401138005	Pena-Shokeir syndrome type I	germline	11	47447927	TGGGCAATGCCTTCCTGGGCCTCAGCGTCTTCCAGAAGGCCCTGGAGAGCTTCGAGAAGGC
281865124	49439	NM_000530.7(MPZ):c.244T>C (p.Tyr82His)	MPZ	Mar 26, 2015	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161306912	GCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGG
121918272	17214	NM_022370.3(ROBO3):c.2113T>C (p.Ser705Pro)	ROBO3	Jun 04, 2004	MedGen:C1846496,OMIM:607313,Orphanet:ORPHA2744	Gaze palsy, familial horizontal, with progressive scoliosis	germline	11	124875150	CCAGTCCAGCTGGTGCAAGGTTTCCGGGTGTCTTGGAGGGTAGCAGGCCCTGAGGGAGGAA
118204069	16579	NM_000237.2(LPL):c.337T>C (p.Trp113Arg)	LPL	Jun 01, 1992	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19951856	GAACCAGACTCCAATGTCATTGTGGTGGACTGGCTGTCACGGGCTCAGGAGCATTACCCAG
797045167	360159	NM_006939.3(SOS2):c.800T>C (p.Met267Thr)	SOS2	Dec 02, 2016	MedGen:CN517202	not provided	germline	14	50182521	TTTTAGGTTTGATTGAAGACACAGTTGAAATGACTGATGAAAGCAGTCCTCATCCCTTAGC
118192099	24619	m.8356T>C	MT-TK	Jan 29, 2015	MedGen:C3151970;MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551	MERRF/MELAS overlap syndrome;Myoclonus with epilepsy with ragged red fibers	germline	MT	8356	AAGTTAAAGATTAAGAGAACCAACACCTCTTTACAGTGAAATGCCCCAACTAAATACTACC
199473459	77997	NM_000218.2(KCNQ1):c.742T>C (p.Trp248Arg)	KCNQ1	May 15, 2012	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2572071	ATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCC
587777401	137025	NM_002633.2(PGM1):c.1547T>C (p.Leu516Pro)	PGM1	Feb 06, 2014	MedGen:C2752015,OMIM:614921,Orphanet:ORPHA319646	Congenital disorder of glycosylation type 1t	germline	1	63654414	GCACTGGGAGTGCCGGGGCCACCATTCGGCTGTACATCGATAGCTATGAGAAGGACGTTGC
727504419	178200	NM_000501.3(ELN):c.889+2T>C	ELN	Jun 16, 2011	Human Phenotype Ontology:HP:0004381,MedGen:C0003499,OMIM:185500,Orphanet:ORPHA3193,SNOMED CT:268185002	Supravalvar aortic stenosis	germline	7	74051841	GGCAATTCCTGGAATTGGAGGCATCGCAGGTAACATCTGTCCCAGCAGGGGGCGGGTGTGT
193922874	136818	NM_000540.2(RYR1):c.14471T>C (p.Leu4824Pro)	RYR1	Apr 04, 2017	MedGen:CN239331;MedGen:CN517202	RYR1-Related Disorders;not provided	germline;unknown	19	38580088	TCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAA
727504166	177267	NM_000543.4(SMPD1):c.475T>C (p.Cys159Arg)	SMPD1	Apr 25, 2014	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	11	6391540	AGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGC
121909230	22871	NM_000314.6(PTEN):c.335T>C (p.Leu112Pro)	PTEN	Jun 28, 2017	MedGen:C0391826,Orphanet:ORPHA65285;MedGen:CN517202	Lhermitte-Duclos disease;not provided	germline	10	87933094	AACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAAT
-1	440190	NM_001080463.1(DYNC2H1):c.8729T>C (p.Leu2910Pro)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	paternal	11	103215755	GTGTATCTAAACTAAATGAAGCTAAAGCTCTTGTGGATGAACTGAACAGAAAAGCTGGAGA
28940579	17579	NM_000243.2(MEFV):c.2177T>C (p.Val726Ala)	MEFV	Oct 12, 2017	MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED CT:12579009;MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED CT:12579009;MedGen:C1851347,OMIM:134610;MedGen:CN517202;MedGen:CN169374	Familial Mediterranean fever;Familial Mediterranean fever;Familial mediterranean fever, autosomal dominant;not provided;not specified	germline;unknown	16	3243310	AGCGTGTGGGCATCTTCGTGGACTACAGAGTTGGAAGCATCTCCTTTTACAATGTGACAGC
-1	439178	NM_006290.3(TNFAIP3):c.727T>C (p.Cys243Arg)	TNFAIP3	Feb 20, 2017	MedGen:CN517202	not provided	de novo	6	137876088	TACTTGCCTCTCCACTGGCCTGCCCAGGAATGCTACAGATACCCCATTGTTCTCGGCTATG
180177325	200648	NM_012203.1(GRHPR):c.965T>C (p.Met322Thr)	GRHPR	Nov 27, 2014	MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria, type II	germline	9	37436760	ACTTGCTGGCTGGCCTGAGAGGGGAGCCGATGCCTAGTGAACTCAAGCTGTAGCCAAACAG
121918505	28329	NM_000141.4(FGFR2):c.799T>C (p.Ser267Pro)	FGFR2	Sep 17, 2016	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008;Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007;MedGen:C1863356,OMIM:101600;MedGen:CN517202	Crouzon syndrome;Neoplasm of stomach;Pfeiffer syndrome;not provided	germline;somatic;unknown	10	121520119	ATCCTCCAAGCCGGACTGCCGGCAAATGCCTCCACAGTGGTCGGAGGAGACGTAGAGTTTG
754320812	206607	NM_024531.4(SLC52A2):c.935T>C (p.Leu312Pro)	SLC52A2	May 19, 2016	MedGen:C3553538,OMIM:614707;MedGen:CN517202	Brown-Vialetto-Van Laere syndrome 2;not provided	germline	8	144360427	GCTTACCCTACGGGCGTCTGGCCTACCACCTGGCTGTGGTGCTGGGCAGTGCTGCCAATCC
387906945	39549	NM_020634.2(GDF3):c.914T>C (p.Leu305Pro)	GDF3	Jan 15, 2010	MedGen:C3150969,OMIM:613704	Microphthalmia, isolated 7	germline	12	7690059	GAGAGTGTCCCTTCTCACTGACCATCTCTCTCAACAGCTCCAATTATGCTTTCATGCAAGC
267606884	24712	m.7275T>C	MT-CO1	Mar 03, 2009	MedGen:CN029768	Familial colorectal cancer	germline	MT	7275	ACCACATGAAACATCCTATCATCTGTAGGCTCATTCATTTCTCTAACAGCAGTAATATTAA
118192249	34267	NM_004519.3(KCNQ3):c.925T>C (p.Trp309Arg)	KCNQ3	Apr 27, 2010	MedGen:C1852581,OMIM:121201	Benign familial neonatal seizures 2	germline	8	132175461	GAGTTTGAGACCTATGCAGATGCCCTGTGGTGGGGCCTGGTGAGTCACTACCTTGGAGGCC
1057519728	362856	NM_002755.3(MAP2K1):c.157T>C (p.Phe53Leu)	MAP2K1	Oct 02, 2014	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Malignant melanoma	somatic	15	66435103	GATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAAC
200238879	18777	NM_000527.4(LDLR):c.694+2T>C	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105602	CAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGT
121965027	26958	NM_000203.4(IDUA):c.1469T>C (p.Leu490Pro)	IDUA	Jul 31, 2012	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473;MedGen:C0086431,OMIM:607015,Orphanet:ORPHA93476,SNOMED CT:26745009	Hurler syndrome;Mucopolysaccharidosis, MPS-I-H/S	germline	4	1003102	TCTGCAGCCCCGACGGCGAGTGGCGGCGCCTGGGCCGGCCCGTCTTCCCCACGGCAGAGCA
104886458	27082	NM_000136.2(FANCC):c.1661T>C (p.Leu554Pro)	FANCC	Oct 11, 2016	MedGen:C3468041,OMIM:227645;MedGen:CN517202	Fanconi anemia, complementation group C;not provided	germline	9	95101723	AAAAACTGGCCCGAGAGCTCCTTAAAGAGCTGCGAACTCAAGTCTAGAAGGCACGCAGGCC
267607080	27912	NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg)	SOS1	Jun 30, 2014	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1853120,OMIM:610733;MedGen:CN517202	Noonan syndrome;Noonan syndrome 4;not provided	germline	2	39023134	ATGAACGAGATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACATTGGACAGTGTTGTA
179363880	187064	NM_000383.3(AIRE):c.232T>C (p.Trp78Arg)	AIRE	Aug 15, 2017	MedGen:C0085859,OMIM:240300,Orphanet:ORPHA3453,SNOMED CT:11244009	Polyglandular autoimmune syndrome, type 1	germline;unknown	21	44286656	ACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGG
397507473	48836	NM_004333.4(BRAF):c.1403T>C (p.Phe468Ser)	BRAF	Dec 07, 2016	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MedGen:CN517202	Cardio-facio-cutaneous syndrome;not provided	germline	7	140781605	CAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAGTCTACAAGGGAAAGTGGCATGG
121917905	16751	NM_000124.3(ERCC6):c.2960T>C (p.Leu987Pro)	ERCC6	Sep 01, 2008	MedGen:C0220722,OMIM:214150,SNOMED CT:41283003	Cerebro-oculo-facio-skeletal syndrome	germline	10	49471085	TCTTCAAGCAGTTTTTGACAAATAGAGTGCTAAAAGACCCAAAACAAAGGCGGTTTTTCAA
121918541	22900	NM_006949.3(STXBP2):c.626T>C (p.Leu209Pro)	STXBP2	Oct 01, 2009	MedGen:C2751293,OMIM:613101	Hemophagocytic lymphohistiocytosis, familial, 5	germline	19	7642081	CCCAGTTGGCCCACGCCGTCCTGGCCAAGCTGAACGCCTTCAAGGCAGACACTCCCAGTCT
727503772	178378	NM_015384.4(NIPBL):c.7637T>C (p.Leu2546Pro)	NIPBL	Dec 02, 2014	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	de novo	5	37059117	TTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCT
587777333	132625	NM_005051.2(QARS):c.169T>C (p.Tyr57His)	QARS	Apr 03, 2014	MedGen:C4014239,OMIM:615760,Orphanet:ORPHA404437	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	germline	3	49104420	ACCATTGACAAAGCTACCGGGATCCTGTTATATGGCTTGGCCTCCCGACTCAGGGATACCC
-1	439713	NM_005956.3(MTHFD1):c.152T>C (p.Leu51Pro)	MTHFD1	Nov 21, 2017	na	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA	germline	14	64411115	TCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGA
-1	456047	NM_000165.4(GJA1):c.389T>C (p.Ile130Thr)	GJA1	Jul 14, 2017	MedGen:C2749477,OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	germline	6	121447236	GTGTCAATGTGGACATGCACTTGAAGCAGATTGAGATAAAGAAGTTCAAGTACGGTATTGA
41397847	30669	NM_000517.4(HBA2):c.377T>C (p.Leu126Pro)	HBA2	Dec 29, 2016	MedGen:C0164294,SNOMED CT:43687002;MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001	Hemoglobin Quong Sze;alpha Thalassemia	germline	16	173548	CCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGT
141281020	429706	NM_004580.4(RAB27A):c.2T>C (p.Met1Thr)	RAB27A	Jun 27, 2016	MedGen:C1868679,OMIM:607624,Orphanet:ORPHA79477	Griscelli syndrome type 2	germline	15	55234933	TTTACAGGTGAACTACTGAGTTCTTCATTATGTCTGATGGAGATTATGATTACCTCATCAA
786205550	188958	NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)	KCNJ13	Mar 31, 2016	MedGen:C3280062,OMIM:614186;MedGen:CN517202	Leber congenital amaurosis 16;not provided	germline	2	232771004	TCTCCTTCTCCCTGGAGACACAACTCACAATTGGTTATGGTACCATGTTCCCCAGTGGTGA
72653799	426923	NM_001171.5(ABCC6):c.2552T>C (p.Leu851Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16177490	TGCAGAGGAAGGGGGCCCTCATGTGTCTTCTGGATCAAGCCAGACAGCCAGGAGATAGAGG
796052063	200587	NM_000030.2(AGXT):c.947T>C (p.Leu316Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240878026	CGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGT
587777279	132022	NM_003638.2(ITGA8):c.2982+2T>C	ITGA8	Feb 06, 2014	MedGen:C1619700,OMIM:191830	Renal adysplasia	germline	10	15531048	CAGCAAAACTCCCAGAAGGAAGCATAGTAGTGAGTATCTTTAAATATATATAGGCACAAAT
104894092	22010	NM_002546.3(TNFRSF11B):c.349T>C (p.Phe117Leu)	TNFRSF11B	Dec 01, 2003	MedGen:C0268414,OMIM:239000,Orphanet:ORPHA2801,SNOMED CT:9723006	Hyperphosphatasemia with bone disease	germline	8	118932982	TGCAAGGAAGGGCGCTACCTTGAGATAGAGTTCTGCTTGAAACATAGGAGCTGCCCTCCTG
431905515	102922	NM_001044.4(SLC6A3):c.671T>C (p.Leu224Pro)	SLC6A3	Feb 10, 2014	MedGen:C2751067,OMIM:613135,Orphanet:ORPHA238455	Infantile Parkinsonism-dystonia	germline	5	1421997	CTCCCCTCTGCAGACGTGGCGTGCTGCACCTCCACCAGAGCCATGGCATCGACGACCTGGG
28936416	22734	NM_003865.2(HESX1):c.77T>C (p.Ile26Thr)	HESX1	Oct 01, 2003	MedGen:C2750026	Pituitary hormone deficiency, combined 5	germline	3	57199842	CCTCAACTTGCTCCTTTTCAATTGAGAGAATCTTAGGACTGGACCAGAAGAAAGACTGTGT
137852260	25653	NM_000133.3(F9):c.1144T>C (p.Cys382Arg)	F9	Apr 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561829	CTTAGAGTTCCACTTGTTGACCGAGCCACATGTCTTCGATCTACAAAGTTCACCATCTATA
387906383	22566	NM_001303.3(COX10):c.2T>C (p.Met1Thr)	COX10	Oct 01, 2004	MedGen:C1850599	Leigh syndrome due to mitochondrial complex IV deficiency	germline	17	14069607	CCCGGGGAGCGGCCCCAGACTCGTAAATTATGGCCGCATCTCCGCACACTCTCTCCTCACG
281875232	39405	NM_019885.3(CYP26B1):c.436T>C (p.Ser146Pro)	CYP26B1	Nov 11, 2011	MedGen:C3280729,OMIM:614416,Orphanet:ORPHA293925;MedGen:CN517202	Radiohumeral fusions with other skeletal and craniofacial anomalies;not provided	germline	2	72135413	CCCACTTGCCTCTCTGCCTTCCAGGTCTTCTCCAAGATCTTCAGCCACGAGGCCCTGGAGA
-1	480555	NM_007327.3(GRIN1):c.2449T>C (p.Phe817Leu)	GRIN1	Feb 22, 2018	MedGen:C3280282,OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	germline	9	137163764	TGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCG
61755817	104596	NM_000322.4(PRPH2):c.736T>C (p.Trp246Arg)	PRPH2	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:CN517202	Retinitis pigmentosa;not provided	not provided	6	42704457	TACGACCACCAGACGGAGGAGCTCAACCTGTGGGTGCGTGGCTGCAGGGCTGCCCTGCTGA
121908076	19146	NM_138691.2(TMC1):c.1543T>C (p.Cys515Arg)	TMC1	Dec 01, 2007	MedGen:C1832978,OMIM:600974	Deafness, autosomal recessive 7	germline	9	72792329	GTTCACCCTGCAGATGTACCTCGAGGACCTTGCTGGGAAACAATGGTGGGACAGGTAATGC
267608430	165870	NM_003159.2(CDKL5):c.145+2T>C	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095;MedGen:CN517202	Atypical Rett syndrome;not provided	de novo	X	18564524	GGCGATCAAGAAATTCAAGGACAGTGAAGGTAGATATATATATATATATATATATATCTGT
121912538	29449	NM_000233.3(LHCGR):c.1505T>C (p.Leu502Pro)	LHCGR	Oct 01, 2004	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008	Leydig cell agenesis	germline	2	48688292	TCTTTTCTTCTCTAATTGCTATGTTGCCCCTTGTCGGTGTCAGCAATTACATGAAGGTCAG
863224053	210855	NM_133259.3(LRPPRC):c.864+2T>C	LRPPRC	Jan 29, 2013	MedGen:CN517202	not provided	germline	2	43975089	AGAAGGGCGACATTGACCATGTTAAGCAGGTATGACTTATGTCTAAATAAACATACTTTAA
121918560	28253	NM_003018.3(SFTPC):c.581T>C (p.Leu194Pro)	SFTPC	Jul 01, 2009	MedGen:C1970470,OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2	germline	8	22164028	CCGTGAGCACCCTGTGTGGCGAGGTGCCGCTCTACTACATCTAGGACGCCTCCGGTGAGCA
147952488	46910	NM_002437.4(MPV17):c.186+2T>C	MPV17	Dec 19, 2014	MedGen:C1850406,OMIM:256810,Orphanet:ORPHA255229;MedGen:CN517202	Navajo neurohepatopathy;not provided	germline	2	27312992	CCATGGTGTCCCTGGGCTGTGGCTTTGTGGTAAGTTCTCCCCTCAACAGGGCTTCAGTGGA
121917763	27364	NM_199292.2(TH):c.707T>C (p.Leu236Pro)	TH	Nov 04, 2016	MedGen:C1854299,OMIM:605407	Segawa syndrome, autosomal recessive	germline;unknown	11	2167896	CGGACCAGGTGTACCGCCAGCGCAGGAAGCTGATTGCTGAGATCGCCTTCCAGTACAGGCA
111033254	19875	NM_000441.1(SLC26A4):c.1588T>C (p.Tyr530His)	SLC26A4	Jan 27, 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	107698085	GGCCTTGGAAGCATCCCTAGCACAGATATCTACAAAAGTACCAAGAATTACAAAAACGTAA
397514611	48424	NM_006567.4(FARS2):c.986T>C (p.Ile329Thr)	FARS2	Dec 03, 2012	MedGen:C3554168,OMIM:614946,Orphanet:ORPHA319519	Combined oxidative phosphorylation deficiency 14	germline	6	5545261	TAGCCATGATCCTCTACGACATCCCTGATATCCGTCTCTTCTGGTGTGAGGACGAGCGCTT
121908352	19963	NM_022124.5(CDH23):c.5663T>C (p.Phe1888Ser)	CDH23	Apr 14, 2005	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71785051	CTGACAGTGGCTGCAATGCACGCCTCACCTTCAACATCACTGCGGGCAACCGCGAGCGGGC
-1	481572	NM_005562.2(LAMC2):c.2T>C (p.Met1Thr)	LAMC2	Mar 28, 2016	MedGen:CN517202	not provided	germline	1	183186354	AGACAGAGACTGAGCGGCCCGGCCCCGCCATGCCTGCGCTCTGGCTGGGCTGCTGCCTCTG
-1	426910	NM_001171.5(ABCC6):c.2843T>C (p.Leu948Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16169798	ACCTGCGTGCCGTGGGCACCCCCCTCTGCCTCTACGCACTCTTCCTCTTCCTCTGCCAGCA
267608511	153562	NM_003159.2(CDKL5):c.659T>C (p.Leu220Pro)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo	X	18588058	TATTTCCTGGAGAAAGTGAAATTGACCAACTTTTTACTATTCAGAAGGTGCTAGGACCACT
770334825	420435	NM_000281.3(PCBD1):c.313T>C (p.Ter105Gln)	PCBD1	Jan 01, 2015	MedGen:C1849700,OMIM:264070,Orphanet:ORPHA1578	Hyperphenylalaninemia, BH4-deficient, D	not applicable	10	70883952	TTCATCGAACAAGTAGCAGTGTCCATGACATAGACCCTGCCCTTCCTCTTTGAATTCTTCC
28939370	20514	NM_006329.3(FBLN5):c.679T>C (p.Ser227Pro)	FBLN5	Oct 13, 2011	MedGen:CN033664,OMIM:219100	Autosomal recessive cutis laxa type IA	germline	14	91887253	TGCGTGCAAACCTGCGTCAACACCTACGGCTCTTTCATCTGCCGCTGTGACCCAGGATATG
371334506	237525	NM_025137.3(SPG11):c.6899T>C (p.Leu2300Pro)	SPG11	Jun 09, 2016	MedGen:C4225253,OMIM:616668,Orphanet:ORPHA466775;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal type 2X;not provided	germline;paternal	15	44565954	ACTGTCAGCGGCTCACCAAGTTGATAACTCTGCAGATTCACTTTCTGAACACTGGCCAGAA
1060499532	224776	NM_001257989.1(TYMP):c.1067T>C (p.Leu356Pro)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526338	TGCTGGCGGCGCAGGGCGTGGATCCCGGTCTGGCCCGAGCCCTGTGCTCGGGAAGTCCCGC
5030833	487032	NM_000551.3(VHL):c.407T>C (p.Phe136Ser)	VHL	Feb 09, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10146580	ATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCC
-1	481976	NM_001197104.1(KMT2A):c.3634+2T>C	KMT2A	Nov 24, 2017	MedGen:CN517202	not provided	germline	11	118480240	CAAAGCCTACCTGCAGAAGCAAGCTAAAGGTAGTGTTGTTAAAAAGGTCTTCCCCCAAATG
387906717	38922	NM_000377.2(WAS):c.881T>C (p.Ile294Thr)	WAS	Jan 01, 2009	MedGen:C1845987,OMIM:300299,Orphanet:ORPHA86788	Severe congenital neutropenia X-linked	germline	X	48688403	CCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCG
118204080	16593	NM_000237.2(LPL):c.755T>C (p.Ile252Thr)	LPL	Jul 24, 1998	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19954333	GATGTAACATTGGAGAAGCTATCCGCGTGATTGCAGAGAGAGGACTTGGAGGTAAATATTA
281865070	49457	NM_000748.2(CHRNB2):c.923T>C (p.Val308Ala)	CHRNB2	Mar 12, 2015	MedGen:C1854335,OMIM:605375;MedGen:CN517202	Epilepsy, nocturnal frontal lobe, type 3;not provided	germline	1	154571746	GCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGT
606231155	20245	NM_021102.3(SPINT2):c.337+2T>C	SPINT2	Feb 01, 2009	MedGen:C2678346	Diarrhea 3, secretory sodium, congenital, syndromic	germline	19	38287937	GAATGCAGCGGATTCCTCTGTCCCAAGTGGTAGGTTCTTAAAGAGACCCGCGATGGAGTGA
201555303	79356	NM_004990.3(MARS):c.1568T>C (p.Ile523Thr)	MARS	Oct 08, 2013	MedGen:C4225400,OMIM:615486	Interstitial lung and liver disease	germline	12	57512036	AGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACAC
80338927	34543	NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro)	SH3TC2	Mar 31, 2008	MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949	Charcot-Marie-Tooth disease, type 4C	not provided	5	149027750	AGGTCCTGCCCTTTGCCGAGCGCCTGCAGCTCCTCTCTGGACACCCTCCTGCCTCTGAGGC
118192186	34635	NM_172107.3(KCNQ2):c.2T>C (p.Met1Thr)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63472462	CCGACCCGGGGCGCCTCCCGCCAGGCACCATGGTGCAGAAGTCGCGCAACGGCGGCGTATA
137852597	24893	NM_000044.4(AR):c.2596T>C (p.Ser866Pro)	AR	Mar 01, 2002	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67722973	CGCTTCTACCAGCTCACCAAGCTCCTGGACTCCGTGCAGCCTGTAAGCAAACGATGGAGGG
137854546	15423	NM_001127695.1(CTSA):c.707T>C (p.Leu236Pro)	CTSA	Dec 01, 1996	MedGen:CN068414	Galactosialidosis, early infantile	germline	20	45894002	CTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTG
121908520	20679	NM_000030.2(AGXT):c.613T>C (p.Ser205Pro)	AGXT	Sep 08, 2016	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001;MedGen:CN517202	Primary hyperoxaluria, type I;not provided	germline	2	240873995	CACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTC
118204000	16267	NM_006364.3(SEC23A):c.1144T>C (p.Phe382Leu)	SEC23A	Nov 01, 2007	MedGen:C1843042,OMIM:607812,Orphanet:ORPHA50814	Craniolenticulosutural dysplasia	germline	14	39067256	GTAATGGGTGATTCTTTCAATACTTCCTTATTCAAACAAACTTTTCAAAGAGTCTTTACCA
267606775	17760	NM_177986.4(DSG4):c.574T>C (p.Ser192Pro)	DSG4	Jun 01, 2006	MedGen:C1842839,OMIM:607903	Hypotrichosis 6	germline	18	31390712	ACAGATGCAGATGAAGAAAATCATCTGAATTCTAAAATTGCCTACAAGATCGTCTCTCAGG
515726182	136329	NM_015713.4(RRM2B):c.190T>C (p.Trp64Arg)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102232163	AAAATGTATAAACAGGCACAGGCTTCCTTCTGGACAGCAGAAGAGGTACGTGGCATTGCCT
796052961	201615	NM_001165963.1(SCN1A):c.662T>C (p.Leu221Pro)	SCN1A	May 14, 2014	MedGen:CN517202	not provided	germline	2	166052884	ATGTCTCGGCATTGAGAACATTCAGAGTTCTCCGAGCATTGAAGACGATTTCAGTCATTCC
58072617	29680	NM_000424.3(KRT5):c.980T>C (p.Met327Thr)	KRT5	Jan 06, 2017	MedGen:C0080333,OMIM:131800,Orphanet:ORPHA79400;MedGen:CN517202	Epidermolysis bullosa simplex, Cockayne-Touraine type;not provided	germline	12	52517702	ATGTCTCTGACACCTCAGTGGTCCTCTCCATGGACAACAACCGCAACCTGGACCTGGATAG
199474665	24636	m.3290T>C	MT-TL1	Sep 01, 1999	EFO:EFO_0005303,MedGen:C0038644,OMIM:272120,SNOMED CT:51178009	SUDDEN INFANT DEATH SYNDROME	germline	MT	3290	AAACTTAAAACTTTACAGTCAGAGGTTCAATTCCTCTTCTTAACAACATACCCATGGCCAA
118203992	264995	NM_018006.4(TRMU):c.2T>C (p.Met1Thr)	TRMU	Sep 01, 2016	MedGen:CN517202	not provided	germline	22	46335766	TGCAGCTGGCGAAGTTGGGCGACTGGCGGATGCAGGCCTTGCGGCACGTCGTGTGCGCCCT
137853068	22503	NM_002241.4(KCNJ10):c.418T>C (p.Cys140Arg)	KCNJ10	Nov 12, 2010	MedGen:C2748572,OMIM:612780,Orphanet:ORPHA199343	SeSAME syndrome	germline	1	160042115	GGCTATGGCTTCCGCTACATCAGTGAGGAATGTCCACTGGCCATTGTGCTTCTTATTGCCC
72558489	102989	NM_000531.5(OTC):c.1018T>C (p.Ser340Pro)	OTC	-	MedGen:CN517202	not provided	unknown	X	38421035	TCTTTGTTGTGTCATCAGGCTGTCATGGTGTCCCTGCTGACAGATTACTCACCTCAGCTCC
28939072	20519	NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr)	FBLN5	Jun 01, 2011	MedGen:C1837187,OMIM:608895	Age-related macular degeneration 3	germline	14	91891334	TCACTTTGCTTGCATTTCTGTTTCCAGACATTGATGAATGTCGCTATGGTTACTGCCAGCA
121913523	362800	NM_000222.2(KIT):c.1961T>C (p.Val654Ala)	KIT	Mar 10, 2016	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Gastrointestinal stroma tumor;Malignant melanoma	somatic	4	54728092	TGAGTTACCTTGGTAATCACATGAATATTGTGAATCTACTTGGAGCCTGCACCATTGGAGG
786203606	183068	NM_000051.3(ATM):c.2T>C (p.Met1Thr)	ATM	Aug 16, 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	108227626	CAGTGATGTGTGTTCTGAAATTGTGAACCATGAGTCTAGTACTTAATGATCTGCTTATCTG
-1	437721	NM_000475.4(NR0B1):c.871T>C (p.Trp291Arg)	NR0B1	Sep 20, 2017	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	maternal	X	30308493	GACCAGCAGCTGGTGCTGGTGCGCAACTGCTGGGCGTCCCTGCTCATGCTTGAGCTGGCCC
128622212	26431	NM_000061.2(BTK):c.1955T>C (p.Leu652Pro)	BTK	Oct 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101349910	CCACTTTCAAAATTCTTCTGAGCAATATTCTAGATGTCATGGATGAAGAATCCTGAGCTCG
72558407	103158	NM_000531.5(OTC):c.602T>C (p.Leu201Pro)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403679	TCAGCTGGATCGGGGATGGGAACAATATCCTGCACTCCATCATGATGAGCGCAGCGAAATT
397515527	76508	NM_000375.2(UROS):c.139T>C (p.Ser47Pro)	UROS	Sep 12, 2013	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	not provided	10	125816185	TCGTTTGAGTTTTTGTCTCTTCCCAGTTTCTCTGAGAAGGTAAGGCCTGTTGTGACTGAGC
398123683	99957	NM_002225.3(IVD):c.465+2T>C	IVD	Jun 22, 2017	MedGen:C0268575,OMIM:243500,Orphanet:ORPHA33,SNOMED CT:87827003	Isovaleryl-CoA dehydrogenase deficiency	germline	15	40410799	AGGCCCAGAAAGAGAAGTATCTCCCGAAGGTGAGGAAATGGAAATGTAATACACGCTAATC
121918123	29066	NM_013251.3(TAC3):c.269T>C (p.Met90Thr)	TAC3	Mar 01, 2009	MedGen:C4016274;MedGen:CN517202	Hypogonadotropic hypogonadism 10 without anosmia;not provided	germline	12	57012845	GTGACATGCATGACTTCTTTGTGGGACTTATGGGCAAGAGGAGCGTCCAGCCAGGTAGGAG
794728167	197797	NM_000138.4(FBN1):c.1468+2T>C	FBN1	Apr 04, 2013	MedGen:CN517202	not provided	germline	15	48515385	CCAGCTGGACCTCCGTGGGGAGTGTATTGGTACGTGATCCATCCTAGGTTGGCACCAAGGG
74315486	31985	NM_001886.2(CRYBA4):c.281T>C (p.Phe94Ser)	CRYBA4	Oct 01, 2006	MedGen:C3808012,OMIM:610425	Cataract 23, multiple types	germline	22	26625603	CGGCCTACCCCGCCGAGAGGCTCACCTCCTTCCGGCCTGCGGCCTGTGCTGTAAGTTCTAC
886041216	264248	NM_005654.5(NR2F1):c.2T>C (p.Met1Thr)	NR2F1	Mar 03, 2017	MedGen:CN517202	not provided	germline	5	93585025	TCCCCCCAGCGCTCCCCGGGCCCAAAGATATGGCAATGGTAGTTAGCAGCTGGCGAGATCC
267607182	15067	NM_144631.5(ZNF513):c.1015T>C (p.Cys339Arg)	ZNF513	Sep 10, 2010	MedGen:C3150879,OMIM:613617	Retinitis pigmentosa 58	germline	2	27378156	AGTCGGCTGGGAGCTGCCATGTGTGGGCGCTGCATGCGAGGAGAGGCTGGAGGGGGTGCCA
387906633	38675	NM_001145661.1(GATA2):c.1117T>C (p.Cys373Arg)	GATA2	Sep 04, 2011	MedGen:C3279664,OMIM:614038,Orphanet:ORPHA3226	Lymphedema, primary, with myelodysplasia	germline	3	128481845	AACGCCAACGGGGACCCTGTCTGCAACGCCTGTGGCCTCTACTACAAGCTGCACAATGTGA
374403765	456070	NM_000426.3(LAMA2):c.2T>C (p.Met1Thr)	LAMA2	Jun 05, 2017	MedGen:CN117977	Laminin alpha 2-related dystrophy	germline	6	128883247	GAGAAGTGGATCCGGTCGCGGCCACTACGATGCCGGGAGCCGCCGGGGTCCTCCTCCTTCT
779383393	204200	NM_000218.2(KCNQ1):c.1051T>C (p.Phe351Leu)	KCNQ1	Jan 01, 2013	MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007	Long QT syndrome 1	germline	11	2585230	ATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGC
515726139	131937	NM_015474.3(SAMHD1):c.1106T>C (p.Leu369Ser)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36912509	TGTATGACATGTTCCACACTCGCAACTCTTTACACCGTAGAGCTTATCAACACAAAGTTGG
886041020	263151	NM_006087.3(TUBB4A):c.1163T>C (p.Met388Thr)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6495336	TCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCTTGCACTGGTA
121909143	22612	NM_001300.5(KLF6):c.506T>C (p.Leu169Pro)	KLF6	Dec 21, 2001	MedGen:C4015779	Prostate cancer, somatic	somatic	10	3781811	CTCAACTGTGGGGTTGCGTGCCCGGGGAGCTGCCCTCGCCAGGGAAGGTGCGCAGCGGGAC
121909357	23671	NM_000163.4(GHR):c.341T>C (p.Phe114Ser)	GHR	Mar 01, 1993	MedGen:C0271568,OMIM:262500,Orphanet:ORPHA633,SNOMED CT:38196001	Laron-type isolated somatotropin defect	germline	5	42694991	ATGTTTCTGCTGGGGAAAACAGCTGTTACTTTAATTCATCGTTTACCTCCATCTGGATACC
121912474	29685	NM_000424.3(KRT5):c.20T>C (p.Val7Ala)	KRT5	Sep 01, 1998	MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:90496008	Epidermolysis bullosa simplex, Koebner type	germline	12	52520277	AACAAGCCACCATGTCTCGCCAGTCAAGTGTGTCCTTCCGGAGCGGGGGCAGTCGTAGCTT
121912526	29433	NM_000233.3(LHCGR):c.1193T>C (p.Met398Thr)	LHCGR	Jan 30, 2017	MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED CT:237818003;Human Phenotype Ontology:HP:0008185,MedGen:C1859979	Gonadotropin-independent familial sexual precocity;Precocious puberty in males	germline	2	48688604	GTTACAAACTTACAGTGCCTCGTTTTCTCATGTGCAATCTCTCCTTTGCAGACTTTTGCAT
-1	426525	NM_002052.4(GATA4):c.910-55T>C	GATA4	Jan 07, 2017	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11754991	TTCTCGCAGCAGGTGTGTGTCTTTCAATGCTGTAGCAGACTACGCAGAAATGGAAAACCCT
1057519316	361897	NM_138393.2(REEP6):c.404T>C (p.Leu135Pro)	REEP6	Jan 19, 2017	MedGen:C4310626,OMIM:617304	Retinitis pigmentosa 77	germline	19	1496340	CTCCCAGGCCCTGGAACGGGGCTCTCATGCTGTATCAGCGCGTCGTGCGTCCGCTGTTCCT
879255693	247710	NM_014191.3(SCN8A):c.629T>C (p.Phe210Leu)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51688772	TGGTTTGATTCTGCAGGTATATAACAGAGTTTGTAAACCTAGGCAATGTTTCAGCTCTACG
267606986	28778	NM_198965.1(PTHLH):c.131T>C (p.Leu44Pro)	PTHLH	Mar 12, 2010	MedGen:C3150644,OMIM:613382	Brachydactyly type E2	germline	12	27963741	GCAAAAGAGCTGTGTCTGAACATCAGCTCCTCCATGACAAGGGGAAGTCCATCCAAGATTT
137854465	31477	NM_000138.4(FBN1):c.3220T>C (p.Cys1074Arg)	FBN1	Jan 01, 1994	MedGen:C4016054	Marfan syndrome, neonatal	germline	15	48488230	ACTTGCTGTTTTTGTGCAGACATTGACGAATGCCGCATATCTCCTGACCTCTGTGGCAGAG
869312817	226424	NM_033419.4(PGAP3):c.842T>C (p.Leu281Pro)	PGAP3	Mar 01, 2016	MedGen:C3810354,OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	germline	17	39673108	TGCTTGACTTCCCACCGCTCTTCTGGGTCCTGGATGCCCATGCCATCTGGCACATCAGCAC
80338945	32055	NM_004004.5(GJB2):c.269T>C (p.Leu90Pro)	GJB2	May 25, 2017	Gene:101290499,Human Phenotype Ontology:HP:0001539,MedGen:C0795690,OMIM:164750,Orphanet:ORPHA660,SNOMED CT:18735004;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;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;Human Phenotype Ontology:HP:0000085,MedGen:C0221353;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;Human Phenotype Ontology:HP:0012745,MedGen:C0423112;MedGen:CN517202;MedGen:CN169374	Congenital omphalocele;Deafness, X-linked 2;Deafness, autosomal dominant 3a;Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Hearing impairment;Hearing impairment;Horseshoe kidney;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;Short palpebral fissure;not provided;not specified	germline;unknown	13	20189313	AGCTGATCTTCGTGTCCACGCCAGCGCTCCTAGTGGCCATGCACGTGGCCTACCGGAGACA
879254874	246115	NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113443	TCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGC
1064792868	224763	NM_001257988.1(TYMP):c.707T>C (p.Phe236Ser)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50527223	GGCTGTCCGCTCTGGTGGTGGACGTTAAGTTCGGAGGGGCCGCCGTCTTCCCCAACCAGGA
267607547	77755	NM_170707.3(LMNA):c.1619T>C (p.Met540Thr)	LMNA	Jan 08, 2015	MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004;MedGen:CN517202	Hutchinson-Gilford syndrome;not provided	germline	1	156137664	TGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGT
116840817	33932	NM_000166.5(GJB1):c.145T>C (p.Ser49Pro)	GJB1	Apr 15, 2010	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	X-linked hereditary motor and sensory neuropathy	not provided	X	71223852	GCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTG
33964317	432865	NM_000558.4(HBA1):c.43T>C (p.Trp15Arg)	HBA1	Dec 15, 2016	MedGen:CN517202	not provided	germline	16	176759	CCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGT
121918088	28488	NM_000371.3(TTR):c.400T>C (p.Tyr134His)	TTR	Feb 01, 1994	MedGen:C3468338	Carpal tunnel syndrome, familial	germline	18	31598631	CGCTACACCATTGCCGCCCTGCTGAGCCCCTACTCCTATTCCACCACGGCTGTCGTCACCA
545185248	207288	NM_002397.4(MEF2C):c.2T>C (p.Met1Thr)	MEF2C	Jan 05, 2016	MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384;MedGen:CN517202	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;not provided	germline	5	88823787	GGACGAGAGAGAGAAGAAAAACGGGGACTATGGGGAGAAAAAAGATTCAGATTACGAGGAT
-1	472252	NM_004312.2(ARR3):c.239T>C (p.Leu80Pro)	ARR3	Dec 22, 2017	MedGen:CN708878,OMIM:301010	MYOPIA 26, X-LINKED, FEMALE-LIMITED	germline	X	70276175	CGTTCCGAAAAGATCTGTATGTGCAGACCCTGCAAGTGGTCCCAGCTGAATCCAGCAGCCC
121918136	15463	NM_199069.1(NDUFAF3):c.2T>C (p.Met1Thr)	NDUFAF3	Jun 01, 2009	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	3	49022146	GTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTA
72554324	103021	NM_000531.5(OTC):c.188T>C (p.Leu63Pro)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367401	TTAAATATATGCTATGGCTATCAGCAGATCTGAAATTTAGGATAAAACAGAAAGGAGAGGT
137853019	20559	NM_014363.5(SACS):c.3161T>C (p.Phe1054Ser)	SACS	Jun 28, 2005	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98	Spastic ataxia Charlevoix-Saguenay type	germline	13	23340715	AGGAACAGATGGTATCAGCTGGTGAACTCTTTGACCCTGATATAGAAGTACTAAAGGATCT
199473070	78922	NM_000335.4(SCN5A):c.635T>C (p.Leu212Pro)	SCN5A	Oct 01, 2005	MedGen:C4016652;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000	Atrial standstill 1, digenic;Congenital long QT syndrome	germline	3	38613811	GTTACAGATACACAACTGAATTTGTGGACCTGGGCAATGTCTCAGCCTTACGCACCTTCCG
1085307142	414717	NM_014139.2(SCN11A):c.1187T>C (p.Leu396Pro)	SCN11A	Apr 25, 2017	MedGen:C3809882,OMIM:615548,Orphanet:ORPHA391397;MedGen:CN517202	Neuropathy, hereditary sensory and autonomic, type VII;not provided	de novo;germline	3	38909109	TGGGCTCCTTCTACCTGATTAACTTAACCCTGGCTGTTGTTACCATGGCATATGAGGAGCA
104894626	23479	NM_000304.3(PMP22):c.82T>C (p.Trp28Arg)	PMP22	Oct 18, 2012	MedGen:C1861669,OMIM:118300,Orphanet:ORPHA90103	Charcot-Marie-Tooth disease and deafness	germline	17	15259190	TCAGGATATCTATCTGATTCTCTCTAGCAATGGATCGTGGGCAATGGACACGCAACTGATC
104894722	27572	NM_000660.6(TGFB1):c.667T>C (p.Cys223Arg)	TGFB1	Mar 05, 2015	Human Phenotype Ontology:HP:0100252,MedGen:C0011989,OMIM:131300,SNOMED CT:34643004	Diaphyseal dysplasia	germline	19	41342215	GAAATTGAGGGCTTTCGCCTTAGCGCCCACTGCTCCTGTGACAGCAGGGATAACACACTGC
121918636	27887	NM_003126.3(SPTA1):c.781T>C (p.Ser261Pro)	SPTA1	Oct 01, 1989	MedGen:C1851741,OMIM:130600	Elliptocytosis 2	germline	1	158678432	GGTTTGGCTCTCCAGAGACAGAAAGCTCTGTCCAATGCTGCAAACTTACAACGATTCAAAA
386134166	51332	NM_002739.4(PRKCG):c.391T>C (p.Cys131Arg)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	not provided	19	53889743	CTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGG
-1	446733	NM_000044.4(AR):c.2438T>C (p.Leu813Pro)	AR	Oct 31, 2017	MedGen:CN517202	not provided	germline	X	67721952	AGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCA
118204119	16524	NM_000190.3(HMBS):c.242T>C (p.Leu81Pro)	HMBS	Jan 01, 2004	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119089248	TTGGAGAGAAAAGCCTGTTTACCAAGGAGCTTGAACATGCCCTGGAGAAGAATGAGTAAGT
483353028	139320	NM_002136.3(HNRNPA1):c.817T>C (p.Phe273Leu)	HNRNPA1	-	MedGen:C0393665,SNOMED CT:230373008	Chronic progressive multiple sclerosis	somatic	12	54283877	TTTGGGAATTACAACAATCAGTCTTCAAATTTTGGACCCATGAAGGGAGGAAATTTTGGAG
118203929	15609	NM_024120.4(NDUFAF5):c.686T>C (p.Leu229Pro)	NDUFAF5	Oct 01, 2008	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	20	13801652	TCACTGCTGTCAATGACCTGGGACATCTGCTTGGGAGAGCTGGCTTTAATACTCTGACTGT
121908874	21487	NM_000369.2(TSHR):c.1526T>C (p.Val509Ala)	TSHR	Jul 01, 1994	MedGen:C1836706,OMIM:609152,Orphanet:ORPHA424	Hyperthyroidism, nonautoimmune	unknown	14	81143584	TCTTCACTGTCTTTGCAAGCGAGTTATCGGTGTATACGCTGACGGTCATCACCCTGGAGCG
28940877	18820	NM_000372.4(TYR):c.265T>C (p.Cys89Arg)	TYR	Oct 30, 2017	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178218	TCGTGGCCTTCCGTCTTTTATAATAGGACCTGCCAGTGCTCTGGCAACTTCATGGGATTCA
587779084	96100	NM_000251.2(MSH2):c.1319T>C (p.Leu440Pro)	MSH2	Sep 09, 2014	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47445590	AATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTT
397516420	52687	NM_000441.1(SLC26A4):c.164+2T>C	SLC26A4	Mar 29, 2016	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:CN517202	Enlarged vestibular aqueduct;Pendred's syndrome;not provided	germline	7	107661807	CTGCGGGAGAGCCTGGCCAAGTGCTGCAGGTAGCGGCCGCGCGGGCCTGCGTAGAGAGAAG
121908485	20827	NM_014270.4(SLC7A9):c.131T>C (p.Ile44Thr)	SLC7A9	Nov 01, 2002	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	19	32864733	GTGGCATCTCCATCATCGTGGGCACCATCATTGGCTCTGGGATCTTCGTTTCCCCCAAGTC
267606877	16089	NM_022489.3(INF2):c.556T>C (p.Ser186Pro)	INF2	Jan 01, 2010	MedGen:C2750475,OMIM:613237	Focal segmental glomerulosclerosis 5	germline	14	104703343	TACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCA
60269890	77392	NM_002055.4(GFAP):c.704T>C (p.Leu235Pro)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44913345	ACGTGGCCAAGCCAGACCTCACCGCAGCCCTGAAAGAGATCCGCACGCAGTATGAGGCAAT
121917816	20563	NM_014324.5(AMACR):c.320T>C (p.Leu107Pro)	AMACR	Feb 01, 2000	MedGen:C1858328,OMIM:214950	Bile acid synthesis defect, congenital, 4	germline	5	34005827	GGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTG
28937596	20982	NM_003907.2(EIF2B5):c.1882T>C (p.Trp628Arg)	EIF2B5	Dec 01, 2001	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	3	184144111	CCCTTCTTTCTTCCATAGCTGCTAAAGGCCTGGAGCCCTGTTTTTAGGAACTACATAAAGC
515726163	132000	NM_021625.4(TRPV4):c.1853T>C (p.Leu618Pro)	TRPV4	Jun 21, 2017	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;MedGen:CN517202	Skeletal dysplasia;not provided	germline	12	109792401	AGATTCTCTTCAAGGACCTTTTCCGATTCCTGCTCGTCTACTTGCTCTTCATGATCGGCTA
387906420	24615	m.616T>C	MT-TF	Feb 09, 2010	MedGen:C4016624	Epilepsy, mitochondrial	germline	MT	616	GCTTACCTCCTCAAAGCAATACACTGAAAATGTTTAGACGGGCTCACATCACCCCATAAAC
80356701	33902	NM_000083.2(CLCN1):c.920T>C (p.Phe307Ser)	CLCN1	May 12, 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;maternal	7	143330838	TTGCTGTTCGGAACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCG
794728380	197240	NM_000238.3(KCNH2):c.1945+6T>C	KCNH2	Apr 28, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	7	150951442	TCCATCTGCGTCATGCTCATTGGCTGTGAGTGTGCCCAGGGGCGGGCGGCGGGGAGAGCCC
281874738	47353	NM_000495.4(COL4A5):c.438+2T>C	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108571468	CCGGTTTTCCTGGTTTACAGGGTCCTCCAGTAAGTTATAAAATTTGGGATTATGATGAACA
397514626	48470	NM_018344.5(SLC29A3):c.607T>C (p.Ser203Pro)	SLC29A3	Dec 21, 2012	MedGen:C1864445,OMIM:602782,Orphanet:ORPHA168569	Histiocytosis-lymphadenopathy plus syndrome	germline	10	71351785	TTTCCTATGAGGAACTCCCAGGCACTGATATCAGGTGAGAGCCAGGGTCCGGGCAGCTGAC
387906980	39660	NM_001317924.1(WDR19):c.1649T>C (p.Leu550Ser)	WDR19	Apr 25, 2017	MedGen:C3280616,OMIM:614378;MedGen:C4225376,OMIM:616307	Cranioectodermal dysplasia 4;Senior-Loken syndrome 8	not provided	4	39231943	GAATTGGAAATGTTGGCATAGTGATGTCCTTGGAACAAATAAAGGTAAACAGCATGTTATA
121909061	22062	NM_005422.2(TECTA):c.5509T>C (p.Cys1837Arg)	TECTA	Aug 01, 2007	MedGen:C1832187,OMIM:601543	Deafness, autosomal dominant 12	germline	11	121166703	AGGGAGGGCGTGAGGATCAATGACAGACAGTGCACCGGCATCGAGGGGGAAGATTTTATCT
875989930	228184	NM_000527.4(LDLR):c.1745T>C (p.Leu582Pro)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116898	GTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGG
-1	214850	NM_016218.3(POLK):c.464T>C (p.Phe155Ser)	POLK	Nov 19, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75573793	GATTTGGTGTTCGTGCAGCCATGCCAGGATTTATTGCTAAGAGGCTGTGCCCACAACTTAT
869025186	76422	m.14498T>C	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	14498	TATCCAAAGACAACCATCATTCCCCCTAAATAAATTAAAAAAACTATTAAACCCATATAAC
122458144	26591	NM_001159702.2(FHL1):c.457T>C (p.Cys153Arg)	FHL1	Mar 01, 2008	MedGen:C2678015,OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	germline	X	136207917	CCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAGCATTGCG
267607790	95834	NM_000249.3(MLH1):c.790+2T>C	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37014546	GAAGTGCATCTTCTTACTCTTCATCAACCGTAAGTTAAAAAGAACCACATGGGAAATCCAC
121964978	27027	NM_000170.2(GLDC):c.2T>C (p.Met1Thr)	GLDC	Jan 01, 2005	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	9	6645498	GGCCGGGGCAGGGGACGGTGGCCGCGGCCATGCAGTCCTGTGCCAGGGCGTGGGGGCTGCG
864309609	215385	NM_017780.3(CHD7):c.3881T>C (p.Leu1294Pro)	CHD7	Sep 05, 2016	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline;unknown	8	60836175	CAATGATCCAGGCTGCTGGCAAGCTAGTGCTGATTGACAAGCTGCTGCCAAAACTGAAGGC
515726135	131913	NM_020347.3(LZTFL1):c.260T>C (p.Leu87Pro)	LZTFL1	May 01, 2014	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:C3714980,OMIM:615994	Bardet-Biedl syndrome;Bardet-Biedl syndrome 17	germline	3	45835653	CCTATACCAATGTGTTACTTCTGCGACAGCTGTTTGCACAAGCTGAGAAGTGGTATCTTAA
587783536	169912	NM_178151.2(DCX):c.272T>C (p.Leu91Pro)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410127	ACGCCTTGCTGGCTGACCTGACGCGATCTCTGTCTGACAACATCAACCTGCCTCAGGGAGT
398122908	48293	NM_005334.2(HCFC1):c.-970T>C	HCFC1	Oct 19, 2012	MedGen:C0796208,OMIM:309541,Orphanet:ORPHA369962	Mental retardation 3, X-linked	germline	X	153971810	CATGTTTAGTTGTTACTTCTTCACACAAGATGGCGGCTCCCAGGGAGGAGGCATGAGCGCC
730880808	188233	NM_000257.3(MYH7):c.4772T>C (p.Leu1591Pro)	MYH7	Mar 23, 2017	MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135;MedGen:CN517202	Myopathy, distal, 1;not provided	germline	14	23416185	AGGAGATGGAACAGGCCAAGCGCAACCACCTGCGGGTGGTGGACTCGCTGCAGACCTCCCT
137852653	24227	NM_000095.2(COMP):c.982T>C (p.Cys328Arg)	COMP	Jul 01, 1995	MedGen:C0410538,OMIM:177170,Orphanet:ORPHA750,SNOMED CT:22567005	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	germline	19	18787644	CCCTTAACCCACCCTGTCATCCAGGACAACTGCCCGCTGGTGCGGAACCCAGACCAGCGCA
121965054	15211	NM_000274.3(OAT):c.1180T>C (p.Cys394Arg)	OAT	Jun 01, 1992	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124398082	TTTTCTTTAGATTGGGATGCTTGGAAGGTGTGTCTACGACTTCGAGATAATGGACTTCTGG
128620186	26388	NM_000061.2(BTK):c.2T>C (p.Met1Thr)	BTK	Mar 01, 1996	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101375283	ACACAGGTGAACTCCAGAAAGAAGAAGCTATGGCCGCAGTGATTCTGGAGAGCATCTTTCT
72653798	426930	NM_001171.5(ABCC6):c.2477T>C (p.Leu826Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16177565	TCCTGCCCCAGGCTGATTGGATCATAGTGCTGGCAAATGGGGCCATCGCAGAGATGGGTTC
797044825	204287	NM_020533.2(MCOLN1):c.317T>C (p.Leu106Pro)	MCOLN1	Jul 30, 2015	MedGen:C0238286,OMIM:252650,Orphanet:ORPHA578,SNOMED CT:111384001	Mucolipidosis type IV	germline	19	7526518	AGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACAC
587783675	168864	NM_000525.3(KCNJ11):c.988T>C (p.Tyr330His)	KCNJ11	Feb 08, 2013	Human Phenotype Ontology:HP:0000819,MedGen:C0011849,SNOMED CT:73211009	Diabetes mellitus	germline	11	17387104	GCTGAGGAGGACGGACGTTACTCTGTGGACTACTCCAAGTTTGGCAACACCGTCAAAGTGC
121964995	26999	NM_014425.4(INVS):c.1478T>C (p.Leu493Ser)	INVS	Aug 01, 2003	MedGen:C1865872,OMIM:602088,SNOMED CT:444558002	Infantile nephronophthisis	germline	9	100264835	TTTGTTTATGCTTATAGGGAAGAACAGCTTTGCATTGGTCCTGCAACAATGGATACCTTGA
104894534	22764	NM_000303.2(PMM2):c.131T>C (p.Val44Ala)	PMM2	Aug 31, 2016	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002	Carbohydrate-deficient glycoprotein syndrome type I	germline;unknown	16	8801863	AATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGA
72558471	103260	NM_000531.5(OTC):c.947T>C (p.Phe316Ser)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411941	GAAAGCCAGAAGAAGTGGATGATGAAGTCTTTTATTCTCCTCGATCACTAGTGTTCCCAGA
121918091	28492	NM_000371.3(TTR):c.250T>C (p.Phe84Leu)	TTR	Aug 04, 2017	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008;MedGen:CN517202	Amyloidogenic transthyretin amyloidosis;not provided	germline	18	31595169	GAGCTGCATGGGCTCACAACTGAGGAGGAATTTGTAGAAGGGATATACAAAGTGGAAATAG
879254492	245512	NM_000527.4(LDLR):c.361T>C (p.Cys121Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105267	CAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAG
-1	434158	NM_000384.2(APOB):c.13151T>C (p.Leu4384Pro)	APOB	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21002271	TACAGCAGATCCATCAATACATTATGGCCCTTCGTGAAGAATATTTTGATCCAAGTATAGT
1114167313	247352	NM_145649.4(GCNT2):c.1091T>C (p.Phe364Ser)	GCNT2	Jul 29, 2016	Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Congenital cataract	inherited	6	10626489	TAAAGTGGCTGGTTAATTCACCAAGCCTGTTTGCTAACAAGTTTGAGCTTAATACCTACCC
-1	440140	NM_001080463.1(DYNC2H1):c.4418T>C (p.Ile1473Thr)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	11	103160971	GTGTTTGCTTTGATGAGAAATCAAAACATATAACTGCAATGAAATCTTTAGAGGGAGAAGT
397514745	75292	NM_001130089.1(KARS):c.517T>C (p.Tyr173His)	KARS	Jan 17, 2014	MedGen:C3151351,OMIM:613916	Deafness, autosomal recessive 89	germline	16	75636503	AAAAGAGCTTCTGGGGGAAAGCTCATCTTCTATGATCTTCGAGGAGAGGGGGTGAAGTTGC
1131691168	421049	NM_004329.2(BMPR1A):c.388T>C (p.Cys130Arg)	BMPR1A	May 18, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	10	86899848	CGGACAATAGAATGTTGTCGGACCAATTTATGTAACCAGTATTTGCAACCCACACTGCCCC
794727615	268705	NM_000070.2(CAPN3):c.533T>C (p.Ile178Thr)	CAPN3	Oct 28, 2015	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42387787	GGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCA
878855319	243857	NM_001972.3(ELANE):c.140T>C (p.Leu47Pro)	ELANE	Apr 15, 2015	MedGen:CN517202	not provided	germline	19	852948	GGCCCCACGCGTGGCCCTTCATGGTGTCCCTGCAGCTGCGCGGAGGCCACTTCTGCGGCGC
139573311	44487	NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117559471	ATAATGATGGGTTTTATTTCCAGACTTCACTTCTAATGGTGATTATGGGAGAACTGGAGCC
397518466	94305	NM_000833.4(GRIN2A):c.2T>C (p.Met1Thr)	GRIN2A	Sep 01, 2013	MedGen:C1832814,OMIM:245570	Epilepsy, focal, with speech disorder and with or without mental retardation	germline	16	10180410	TCACCTTGCAGGGACCGTCAGTGGCGACTATGGGCAGAGTGGGCTATTGGACCCTGCTGGT
1057519433	362156	NM_052867.3(NALCN):c.965T>C (p.Ile322Thr)	NALCN	-	MedGen:C4225398,OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	de novo	13	101292072	TTTTTCAGAACGTGTTTATTGCTGTTATCATTGAAACATTTGCAGAAATCAGAGTACAGTT
199473488	197363	NM_000238.3(KCNH2):c.125T>C (p.Ile42Thr)	KCNH2	Mar 15, 2013	MedGen:CN517202	not provided	germline	7	150974893	CCAACGCTCGGGTGGAGAACTGCGCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTG
63750193	95292	NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro)	MLH1	Jul 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C2936783,OMIM:120435	Hereditary cancer-predisposing syndrome;Lynch syndrome I	germline	3	37040276	TGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTG
1057520846	375472	NM_000334.4(SCN4A):c.4463T>C (p.Leu1488Pro)	SCN4A	Dec 15, 2016	MedGen:CN517202	not provided	germline	17	63941819	CGCTGCCTGCCCTCTTCAACATCGGCCTCCTCCTCTTCCTGGTCATGTTCATCTACTCCAT
267606857	24398	NM_000180.3(GUCY2D):c.2846T>C (p.Ile949Thr)	GUCY2D	Oct 01, 2010	MedGen:C1866293,OMIM:601777	Cone-rod dystrophy 6	germline	17	8015404	AGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGC
764723654	425860	NM_000102.3(CYP17A1):c.297+2T>C	CYP17A1	Jun 16, 2017	MedGen:CN517202	not provided	germline	10	102837063	GCAAGGACTTCTCTGGGCGGCCTCAAATGGTAAGTGGTGCCCATCTCCTCCCTGCCCCCTT
-1	443455	NM_001904.3(CTNNB1):c.2076+2T>C	CTNNB1	Jul 21, 2016	MedGen:CN517202	not provided	germline	3	41236711	TCAGAACAGAGCCAATGGCTTGGAATGAGGTAGGGAAATGTGAGCAGTTATTTATCTGGTA
199472942	38733	NM_000238.3(KCNH2):c.1831T>C (p.Tyr611His)	KCNH2	May 13, 2005	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C3150943,OMIM:613688	Congenital long QT syndrome;Long QT syndrome 2	germline	7	150951562	GGCCTGGGCGGCCCCTCCATCAAGGACAAGTATGTGACGGCGCTCTACTTCACCTTCAGCA
879254655	245755	NM_000527.4(LDLR):c.706T>C (p.Cys236Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11106576	ACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATG
863223543	209947	NM_000118.3(ENG):c.1428+2T>C	ENG	Jan 07, 2015	MedGen:CN517202	not provided	germline	9	127818714	TCGAGCCGGGGCAGCAGAGCTTTGTGCAGGTACCTGGCATGCCTGTCACCCCTCGGGCCTC
1060502641	404231	NM_004006.2(DMD):c.6614+2T>C	DMD	Dec 24, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN169374	Duchenne muscular dystrophy;not specified	germline	X	31968337	TGCAAACAGCTGTCAGACAGAAAAAAGAGGTAGGGCGACAGATCTAATAGGAATGAAAACA
281865006	47666	NM_024312.4(GNPTAB):c.3002T>C (p.Leu1001Pro)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101761260	TGCAGTTTGCCTTCTCTTATTTTTATTATCTCATGAGTGCAGTGCAGCCACTGAATATATC
587777663	153793	NM_001288767.1(ARMC5):c.1379T>C (p.Leu460Pro)	ARMC5	Aug 01, 2014	MedGen:C4014803,OMIM:615954	Acth-independent macronodular adrenal hyperplasia 2	germline	16	31462641	TATGTCGTGAGGCCATCAACCGGGCCCGACTGCGGGATGCTGGTGGCTTGGATCTACTGAT
137852797	15429	NM_000405.4(GM2A):c.412T>C (p.Cys138Arg)	GM2A	May 01, 1992	MedGen:C0268275,OMIM:272750,Orphanet:ORPHA309246,SNOMED CT:71253000	Tay-Sachs disease, variant AB	germline	5	151266899	CCCCTGCGTACCTATGGGCTTCCTTGCCACTGTCCCTTCAAAGAAGTAAGTACTTAGGGAG
421016	19327	NM_000157.3(GBA):c.1448T>C (p.Leu483Pro)	GBA	Oct 31, 2017	MedGen:C0268250,OMIM:230900,Orphanet:ORPHA77260,SNOMED CT:12246008;MedGen:C0268250,OMIM:230900,Orphanet:ORPHA77260,SNOMED CT:12246008;na;MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1842704,OMIM:608013,Orphanet:ORPHA85212;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009;MedGen:C3160718,OMIM:168600,SNOMED CT:49049000;MedGen:C0268251,OMIM:231000,Orphanet:ORPHA77261,SNOMED CT:5963005;MedGen:C0268251,OMIM:231000,Orphanet:ORPHA77261,SNOMED CT:5963005;MedGen:CN517202	Acute neuronopathic Gaucher's disease;Acute neuronopathic Gaucher's disease;Dementia, Lewy body, susceptibility to;Gaucher disease;Gaucher disease, perinatal lethal;Gaucher's disease, type 1;Gaucher's disease, type 1;Gaucher's disease, type 1;Gaucher's disease, type 1;Parkinson disease, late-onset;Subacute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;not provided	germline;unknown	1	155235252	TGGGGCTGGTTGCCAGTCAGAAGAACGACCTGGACGCAGTGGCACTGATGCATCCCGATGG
121909573	33083	NM_000488.3(SERPINC1):c.379T>C (p.Cys127Arg)	SERPINC1	Dec 27, 2002	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173914582	ACGGCTTTTGCTATGACCAAGCTGGGTGCCTGTAATGACACCCTCCAGCAACTGATGGAGG
863223535	209954	NM_000118.3(ENG):c.689+2T>C	ENG	Apr 28, 2015	MedGen:CN517202	not provided	germline	9	127825693	CTGAGGGTCCTGCCGGGCCACTCGGCCGGGTATGGCTCTCGCCCCGCCCCTGACACTAGTC
121918137	15451	NM_003730.4(RNASET2):c.550T>C (p.Cys184Arg)	RNASET2	Jul 01, 2009	MedGen:C2751843,OMIM:612951,Orphanet:ORPHA85136	Leukoencephalopathy, cystic, without megalencephaly	germline	6	166931061	AGAGTATATGGAGTGATACCCAAAATCCAGTGCCTTCCACCAAGCCAGGTTAGACAGTTAT
104894605	17471	NM_153006.2(NAGS):c.1289T>C (p.Leu430Pro)	NAGS	Aug 01, 2007	MedGen:C0268543,OMIM:237310,Orphanet:ORPHA927,SNOMED CT:57119000	Hyperammonemia, type III	germline	17	44007611	GCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCC
869312824	226497	NM_002074.4(GNB1):c.284T>C (p.Leu95Pro)	GNB1	Feb 10, 2016	Human Phenotype Ontology:HP:0100704,MedGen:C0155320;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001510,MedGen:C3552463;Human Phenotype Ontology:HP:0002540,MedGen:C0560046;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0002509,MedGen:C1838391;Human Phenotype Ontology:HP:0010841,MedGen:C4021219;Human Phenotype Ontology:HP:0001252,MedGen:C0026827;Human Phenotype Ontology:HP:0000639,MedGen:C0028738;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;Human Phenotype Ontology:HP:0000486,MedGen:C0038379	Cortical visual impairment;Expressive language delay;Failure to thrive;Feeding difficulties;Global developmental delay;Growth delay;Inability to walk;Intellectual disability;Limb hypertonia;Multifocal epileptiform discharges;Muscular hypotonia;Nystagmus;Seizures;Strabismus	de novo	1	1804565	CTTTCTGTCATTAGGTCCACGCCATCCCTCTGCGCTCCTCCTGGGTCATGACCTGTGCATA
121918783	79556	NM_006920.4(SCN1A):c.5522T>C (p.Met1841Thr)	SCN1A	Dec 20, 2014	MedGen:C1858672,OMIM:604233;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Generalized epilepsy with febrile seizures plus, type 1;Severe myoclonic epilepsy in infancy	paternal	2	165991720	CACAACCAAACAAACTCCAGCTCATTGCCATGGATTTGCCCATGGTGAGTGGTGACCGGAT
-1	427054	NM_001171.5(ABCC6):c.766T>C (p.Trp256Arg)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16208756	GAAGAACTTGTTTCCCGGCTTGAAAAGGAGTGGATGAGGAACCGCAGTGCAGCCCGGAGGT
587777569	150452	NM_001032.4(RPS29):c.149T>C (p.Ile50Thr)	RPS29	Jul 03, 2014	MedGen:C4014641,OMIM:615909	Diamond-Blackfan anemia 13	germline	14	49585963	GCCAGTGTTTCCGTCAGTACGCGAAGGATATCGGTTTCATTAAGGTAGGCGTCTGCAGGCG
587779773	132665	NM_001101.4(ACTB):c.356T>C (p.Met119Thr)	ACTB	Apr 15, 2014	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995	Baraitser-Winter syndrome 1	germline	7	5529168	CCCTGAACCCCAAGGCCAACCGCGAGAAGATGACCCAGGTGAGTGGCCCGCTACCTCTTCT
121434297	18568	NM_005957.4(MTHFR):c.968T>C (p.Leu323Pro)	MTHFR	Dec 01, 1996	MedGen:CN068661	Homocystinuria due to MTHFR deficiency	germline	1	11795161	GCTTGGTGCCAGGCCTCCACTTCTACACCCTCAACCGCGAGATGGCTACCACAGAGGTGCT
121917857	23910	NM_002181.3(IHH):c.569T>C (p.Val190Ala)	IHH	Apr 01, 2003	MedGen:C1843096,OMIM:607778,Orphanet:ORPHA63446	Acrocapitofemoral dysplasia	germline	2	219057441	ACGAGTCAAAGGCCCACGTGCATTGCTCCGTCAAGTCCGGTGAGCCGCCGCCGGGGGGCTG
121908620	21086	NM_004273.4(CHST3):c.857T>C (p.Leu286Pro)	CHST3	Sep 15, 2008	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	germline	10	72007888	GCATCCGGCAGCTGGAGTTCCTGCAGCCGCTGGCCGAGGACCCCCGCCTGGACCTGCGCGT
122467173	26455	NM_014009.3(FOXP3):c.970T>C (p.Phe324Leu)	FOXP3	Jun 01, 2006	MedGen:C0342288,OMIM:304790,Orphanet:ORPHA37042,SNOMED CT:237618001	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	germline	X	49253200	GGCTTGATTCATCCCCACCCTCTGACAGAGTTCCTCCACAACATGGACTACTTCAAGTTCC
111033710	36525	NM_000155.3(GALT):c.507+2T>C	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647963	AGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGC
397514571	48327	NM_000431.3(MVK):c.122T>C (p.Leu41Pro)	MVK	Nov 15, 2012	MedGen:C1867981,OMIM:175900	Porokeratosis, disseminated superficial actinic 1	germline	12	109576041	TATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCT
179363878	79120	NM_000383.3(AIRE):c.83T>C (p.Leu28Pro)	AIRE	Mar 07, 2016	MedGen:CN517202	not provided	germline	21	44286089	TCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGT
121912449	29811	NM_000454.4(SOD1):c.455T>C (p.Ile152Thr)	SOD1	Jul 01, 1996	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31668568	GAAGTCGTTTGGCTTGTGGTGTAATTGGGATCGCCCAATAAACATTCCCTTGGATGTAGTC
875989912	228153	NM_000527.4(LDLR):c.940+2T>C	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11107516	CTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTT
587782652	152414	NM_000051.3(ATM):c.8147T>C (p.Val2716Ala)	ATM	Aug 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	108335105	GTTCCGATGGCAAGGAGAGGAGACAGCTTGTTAAGGTGAGCCTTCCCTTCTCTGGCTTAGC
398122374	59383	NM_000212.2(ITGB3):c.2231T>C (p.Leu744Pro)	ITGB3	May 03, 2013	MedGen:C1861195,OMIM:187800	Platelet-type bleeding disorder 16	germline	17	47307567	GCCTTGCCGCCCTGCTCATCTGGAAACTCCTCATCACCATCCACGACCGAAAAGAATTCGC
387906507	27114	NM_000131.4(F7):c.38T>C (p.Leu13Pro)	F7	Apr 01, 1998	MedGen:C0015503,OMIM:227500,Orphanet:ORPHA327,SNOMED CT:37193007	Factor VII deficiency	germline	13	113105879	CCCAGGCCCTCAGGCTCCTCTGCCTTCTGCTTGGGCTTCAGGGCTGCCTGGCTGCAGGTGC
121907925	18516	NM_000280.4(PAX6):c.773T>C (p.Phe258Ser)	PAX6	Feb 22, 2013	Human Phenotype Ontology:HP:0000588,MedGen:C0155299,OMIM:120430,SNOMED CT:17541006;Human Phenotype Ontology:HP:0000589,MedGen:C0009363,OMIM:120200,Orphanet:ORPHA194,SNOMED CT:92828000,SNOMED CT:93390002	Coloboma of optic disc;Congenital ocular coloboma	germline	11	31793795	AACCTGTCCCACCTGATTTCCAGGTATGGTTTTCTAATCGAAGGGCCAAATGGAGAAGAGA
118204055	15771	NM_018077.2(RBM28):c.1052T>C (p.Leu351Pro)	RBM28	May 01, 2008	MedGen:C2677535,OMIM:612079,Orphanet:ORPHA157954	Alopecia, neurologic defects, and endocrinopathy syndrome	germline	7	128330896	ATCTGTCCTTTGACTCAGAAGAAGAAGAACTTGGGGAGCTTCTCCAACAGTTTGGAGAACT
869320690	213765	NM_002860.3(ALDH18A1):c.1910T>C (p.Leu637Pro)	ALDH18A1	Aug 01, 2015	MedGen:C4225272,OMIM:616586,Orphanet:ORPHA447760	Spastic paraplegia 9b, autosomal recessive	germline	10	95613755	CACCATTATTTGACCAGATCATTGATATGCTGAGAGTGGAACAGGTAAGAGTTCCATAGGA
886043046	269449	NM_133433.3(NIPBL):c.3855+2T>C	NIPBL	Dec 21, 2015	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37003349	GGTCAAAGCTTTCCACTTTGTTAAATCATGTAAGTTTAAGATCCATACTGTTAATTTTACC
63751163	33177	NM_000021.3(PSEN1):c.749T>C (p.Leu250Ser)	PSEN1	Jan 01, 1998	MedGen:C1843013,OMIM:607822;MedGen:CN517202	Alzheimer disease, type 3;not provided	germline	14	73192844	ACCTCCCTGAATGGACTGCGTGGCTCATCTTGGCTGTGATTTCAGTATATGGTAAAACCCA
137852886	17817	NM_000158.3(GBE1):c.671T>C (p.Leu224Pro)	GBE1	Apr 26, 2017	MedGen:C4017118;MedGen:CN068577;MedGen:C0017923,OMIM:232500,SNOMED CT:11179002	Adult polyglucosan body neuropathy;Glycogen storage disease IV, nonprogressive hepatic;Glycogen storage disease, type IV	not provided	3	81648876	CTTCTTATAAACATTTTACATGCAATGTACTACCAAGAATCAAAGGCCTTGGTAAGTAATA
121918084	28484	NM_000371.3(TTR):c.272T>C (p.Val91Ala)	TTR	Jan 01, 1993	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31595191	AGGAGGAATTTGTAGAAGGGATATACAAAGTGGAAATAGACACCAAATCTTACTGGAAGGC
1057519453	362133	NM_004980.4(KCND3):c.1153T>C (p.Ser385Pro)	KCND3	-	MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772	Spinocerebellar ataxia 19	germline	1	111787060	CCTAAGACGATTGCAGGGAAGATCTTCGGCTCCATCTGCTCCTTGAGTGGCGTCCTGGTCA
121908089	19319	NM_017838.3(NHP2):c.415T>C (p.Tyr139His)	NHP2	May 10, 2012	MedGen:C1857144,OMIM:224230;MedGen:C3151441,OMIM:613987	Dyskeratosis congenita autosomal recessive 1;Dyskeratosis congenita, autosomal recessive 2	germline	5	178149760	GTCAAGCCCCATGAGGAGTACCAGGAGGCTTACGATGAGTGCCTGGAGGAGGTGCAGTCCC
5030807	180117	NM_000551.3(VHL):c.266T>C (p.Leu89Pro)	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	10142113	GCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCC
148234606	48176	NM_001253816.1(SLC52A2):c.1016T>C (p.Leu339Pro)	SLC52A2	Oct 24, 2017	MedGen:C3553538,OMIM:614707;MedGen:CN517202	Brown-Vialetto-Van Laere syndrome 2;not provided	germline	8	144360604	TGCTCGCTCACTGCAGGTCCTTGGCAGGGCTGGGCGGCCTCTCTCTGCTGGGCGTGTTCTG
878853130	237486	NM_052867.3(NALCN):c.3017T>C (p.Val1006Ala)	NALCN	May 19, 2015	MedGen:C4225398,OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	de novo	13	101103212	TATTCAAACTGGTGCCCCAGATGAGGAAAGTTGTTCGAGAACTTTTCAGCGGCTTCAAGGA
121917738	28239	NM_001098668.3(SFTPA2):c.593T>C (p.Phe198Ser)	SFTPA2	Jan 01, 2009	MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000	Idiopathic fibrosing alveolitis, chronic form	germline	10	79557363	GCCTGACTGAGGGTCCCAGCCCTGGAGACTTCCGCTACTCAGATGGGACCCCTGTAAACTA
786204037	185758	NM_005957.4(MTHFR):c.1883T>C (p.Leu628Pro)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11790768	TGGTCAACCTGGTGGACAATGACTTCCCACTGGACAACTGCCTCTGGCAGGTGGTGGAAGA
-1	434374	NM_013227.3(ACAN):c.223T>C (p.Trp75Arg)	ACAN	Sep 28, 2017	Human Phenotype Ontology:HP:0010886,MedGen:C0029421,OMIM:165800,Orphanet:ORPHA2764,SNOMED CT:82562007	Osteochondritis dissecans	germline	15	88838815	TCTACCGCCCCACTGGCCCCAAGAATCAAGTGGAGCCGTGTGTCCAAGGAGAAGGAGGTAG
61752063	24925	NM_000330.3(RS1):c.286T>C (p.Trp96Arg)	RS1	Dec 28, 2015	MedGen:C0271091,OMIM:312700,Orphanet:ORPHA792,SNOMED CT:86923008;MedGen:CN517202	Juvenile retinoschisis;not provided	germline	X	18647231	CCGGAGCAGTATGTGGGCTGGTATTCTTCGTGGACTGCAAACAAGGCCCGGCTCAACAGTC
397515406	48197	NM_020822.2(KCNT1):c.2386T>C (p.Tyr796His)	KCNT1	Feb 19, 2015	MedGen:C3554306,OMIM:615005	Epilepsy, nocturnal frontal lobe, 5	germline	9	135777374	AAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCT
724159991	171755	NM_000663.4(ABAT):c.1433T>C (p.Leu478Pro)	ABAT	Sep 11, 2017	MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007	Gamma-aminobutyric acid transaminase deficiency	germline	16	8781360	GTGACAAATCCATTCGTTTCCGTCCCACGCTGGTCTTCAGGGATCACCACGCTCACCTGTT
121918703	27602	NM_001128177.1(THRB):c.1336T>C (p.Cys446Arg)	THRB	May 01, 1994	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24122934	GCCAGCCGCTTCCTGCACATGAAGGTGGAATGCCCCACAGAACTCTTCCCCCCTTTGTTCT
797044968	204597	NM_004700.3(KCNQ4):c.823T>C (p.Trp275Arg)	KCNQ4	Aug 20, 2015	MedGen:C2677637,OMIM:600101	DFNA 2 Nonsyndromic Hearing Loss	germline	1	40819461	TCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTA
863225173	214178	NM_001080522.2(CC2D2A):c.3134T>C (p.Val1045Ala)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	unknown	4	15563474	ACCTGTCTGATGGAGACATAAAGCTGCTGGTGAACATTGTGCGAGCTTACGACATTCCAGT
121908190	19516	NM_031433.3(MFRP):c.545T>C (p.Ile182Thr)	MFRP	Jul 05, 2005	MedGen:C1836006,OMIM:609549	Nanophthalmos 2	germline	11	119345516	GGCATATCCAGGTGGCCACAGACCATGCAATACAGCTCAAGATCGAAGCCCTCAGCATAGA
121434334	16718	NM_005908.3(MANBA):c.1513T>C (p.Ser505Pro)	MANBA	Aug 01, 2008	MedGen:C4048196,OMIM:248510,Orphanet:ORPHA118,SNOMED CT:238047006	Beta-D-mannosidosis	germline	4	102657873	CAGGGAGACAAGAGTCGTCCTTTTATTACGTCCAGTCCTACAAATGGGGCTGAAACTGTTG
-1	440163	NM_001080463.1(DYNC2H1):c.6883T>C (p.Cys2295Arg)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103186491	CAGCCCTTTATTCTGGTAGGACCAGAAGGATGTGGCAAAGGGTAAGAAAAATATTGGCAAA
111033728	36556	NM_000155.3(GALT):c.584T>C (p.Leu195Pro)	GALT	Sep 18, 2015	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN517202	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided	germline;unknown	9	34648353	CCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATC
-1	440182	NM_001080463.1(DYNC2H1):c.8012T>C (p.Met2671Thr)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	unknown	11	103199400	GTCGGACCATCACTTCTTTAGTCAGTCACATGCATGGAGCGGTCCTGTTTTCTCCAAAGAT
111033748	36579	NM_000155.3(GALT):c.687+2T>C	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648458	AGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGG
28940891	18441	NM_015102.4(NPHP4):c.2972T>C (p.Phe991Ser)	NPHP4	Oct 01, 2002	MedGen:C1847013,OMIM:606966	Nephronophthisis 4	germline	1	5874946	TCCACGCCACGCTGGGGGTCGCCGAGTTCTTTGAGTTTGTGCTTAAGAACCCCCACAACAC
63750809	95480	NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg)	MLH1	Aug 12, 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	3	37048952	AAGGAATGTTTTGAAAGCCTCAGTAAAGAATGCGCTATGTTCTATTCCATCCGGAAGCAGT
28941779	18543	NM_024426.4(WT1):c.1378T>C (p.Phe460Leu)	WT1	Jan 01, 1999	MedGen:C0950122,OMIM:136680,Orphanet:ORPHA347,SNOMED CT:445431000	Frasier syndrome	germline	11	32392026	CCATTCCAGTGTAAAACTTGTCAGCGAAAGTTCTCCCGGTCCGACCACCTGAAGACCCACA
121909185	23056	NM_001089.2(ABCA3):c.977T>C (p.Leu326Pro)	ABCA3	Sep 01, 2007	MedGen:C1970456,OMIM:610921,Orphanet:ORPHA440402	Surfactant metabolism dysfunction, pulmonary, 3	germline	16	2317661	TCCTCATCGCCGCCTCCTTCATGACCCTGCTCTTCTGTGTCAAGGTGAGCATGGCGTCGGT
150021927	246458	NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11120381	TCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCT
121908154	19417	NM_001243133.1(NLRP3):c.926T>C (p.Phe309Ser)	NLRP3	Jul 01, 2002	MedGen:C0409818,OMIM:607115,Orphanet:ORPHA1451,SNOMED CT:239826001;MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000	Chronic infantile neurological, cutaneous and articular syndrome;Familial cold urticaria	germline	1	247424375	TGGACGGCTTCGATGAGCTGCAAGGTGCCTTTGACGAGCACATAGGACCGCTCTGCACTGA
869320691	264294	NM_006245.3(PPP2R5D):c.619T>C (p.Trp207Arg)	PPP2R5D	Sep 12, 2017	MedGen:CN517202	not provided	germline	6	43007292	GAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGG
111437311	175184	NM_000256.3(MYBPC3):c.1624+2T>C	MYBPC3	Oct 18, 2016	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47342576	CCAGGCGCTGGCTGAGCTCATTGTGCAGGGTGAGCCTGGCTGGGGGGGCACATGAGGCTTT
758795961	213823	NM_000070.2(CAPN3):c.566T>C (p.Leu189Pro)	CAPN3	Dec 29, 2012	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42387820	ATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGA
786204770	187093	NM_016035.4(COQ4):c.155T>C (p.Leu52Ser)	COQ4	Jun 07, 2016	MedGen:C4225392,OMIM:616276,Orphanet:ORPHA457185	Coenzyme Q10 deficiency, primary, 7	germline	9	128323100	TCCCCACCTCCCCGCTGCAGAAAGGGCTGTTGGCCGCCGGCTCCGCGGCGATGGCGCTCTA
748763552	239739	NM_001369.2(DNAH5):c.5290T>C (p.Ser1764Pro)	DNAH5	Mar 28, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13841886	TTTCTAACATAGATCTATGATCGAATTCTGTCAATTTCCTCTCAAGAGGGTGAGACGATTG
1057517672	263524	NM_001177676.1(GPR68):c.221T>C (p.Leu74Pro)	GPR68	Nov 21, 2016	Human Phenotype Ontology:HP:0000705,MedGen:C0002452,Orphanet:ORPHA88661,SNOMED CT:78494001;MedGen:C4310665,OMIM:617217	Amelogenesis imperfecta;Amelogenesis imperfecta, hypomaturation type IIA6	germline	14	91234830	CGGTGGCCGACCTCTTCTACATCTGCTCGCTGCCCTTCTGGCTGCAGTACGTGCTGCAGCA
1057520767	365512	NM_053274.2(GLMN):c.39+2T>C	GLMN	Jun 05, 2015	MedGen:CN517202	not provided	germline	1	92297959	AGGAACTTCAGTCTATAATAAAGAGATGTGTAAGTATTAATTTTTGTAAAATTAAATACCT
483352928	27783	NM_000733.3(CD3E):c.520+2T>C	CD3E	Feb 04, 2014	MedGen:C3810127,OMIM:615615	Immunodeficiency 18	germline	11	118313876	AGGAGCGGGTGCTGGCGGCAGGCAAAGGGGTAAGGCTGTGGAGTCCAGTCAGAGGAGATTC
587777737	166013	NM_024915.3(GRHL2):c.1192T>C (p.Tyr398His)	GRHL2	Sep 04, 2014	MedGen:C4014987,OMIM:616029,Orphanet:ORPHA423454	Ectodermal dysplasia/short stature syndrome	germline	8	101619632	CCTTTGATGATTCAGATTGACACATACAGTTATAACAATCGTAGCAATAAACCCATTCATA
1057519343	362098	NM_020247.4(COQ8A):c.1523T>C (p.Phe508Ser)	COQ8A	Jun 07, 2016	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485	Coenzyme Q10 deficiency, primary, 4	germline	1	226984892	GTCTCTGTCCCCAGGTGGCTCTTTTGGATTTTGGGGCAACGCGGGAATATGACAGATCCTT
864309537	215112	NM_001271.3(CHD2):c.1642T>C (p.Trp548Arg)	CHD2	Sep 10, 2015	MedGen:C3809278,OMIM:615369	Epileptic encephalopathy, childhood-onset	germline	15	92953496	ATAGTCGTCCCTTTATCCACCCTCACCTCATGGCAGAGAGAGTTTGAAATCTGGGCACCAG
281860278	46943	NM_005211.3(CSF1R):c.2603T>C (p.Leu868Pro)	CSF1R	Aug 30, 2012	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	not provided	5	150055288	GCATCCTGGTGAACAGCAAGTTCTATAAACTGGTGAAGGATGGATACCAAATGGCCCAGCC
72556286	103130	NM_000531.5(OTC):c.536T>C (p.Leu179Pro)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401424	CTATCCAGATCCTGGCTGATTACCTCACGCTCCAGGTTGGTTTATTTATTTGTCTTACAAA
121918704	27603	NM_001128177.1(THRB):c.1373T>C (p.Val458Ala)	THRB	Aug 01, 1996	MedGen:C3489796,OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	germline	3	24122897	CAGAACTCTTCCCCCCTTTGTTCTTGGAAGTGTTCGAGGATTAGACTGACTGGATTCATTC
387907265	45721	NM_005022.3(PFN1):c.341T>C (p.Met114Thr)	PFN1	Aug 23, 2012	MedGen:C3553719,OMIM:614808	Amyotrophic lateral sclerosis 18	germline	17	4945982	TTCCTCCTCCTCCAGCGCTAGTCCTGCTGATGGGCAAAGAAGGTGTCCACGGTGGTTTGAT
863223310	31019	NM_000515.4(GH1):c.291+2T>C	GH1	Feb 01, 2003	MedGen:C0271567,OMIM:173100,Orphanet:ORPHA231679,SNOMED CT:237687003	Autosomal dominant isolated somatotropin deficiency	germline	17	63918015	CCAACAGGGAGGAAACACAACAGAAATCCGTGAGTGGATGCCTTCTCCCCAGGCGGGGATG
1057519914	361700	NM_004958.3(MTOR):c.4447T>C (p.Cys1483Arg)	MTOR	May 31, 2016	Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;Human Phenotype Ontology:HP:0007206,MedGen:C0431391,Orphanet:ORPHA99802;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009	Glioblastoma;Hemimegalencephaly;Neoplasm of the breast;Renal cell carcinoma, papillary, 1	somatic	1	11157174	GACCCAGAGCTGATGCTGGGCCGCATGCGCTGCCTCGAGGCCTTGGGGGAATGGTGAGCTT
1114167309	247345	NM_005267.4(GJA8):c.73T>C (p.Trp25Arg)	GJA8	Jul 29, 2016	Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Congenital cataract	inherited	1	147908028	AATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCC
863224089	211697	NM_016013.3(NDUFAF1):c.2T>C (p.Met1Thr)	NDUFAF1	Jul 31, 2014	MedGen:CN517202	not provided	germline	15	41397058	AGAAACTTACATTTTGATTTTTTTGTACCATGGCTTTGGTTCACAAATTGCTGCGTGGTAC
118204039	15590	NM_001012515.2(FECH):c.1268T>C (p.Phe423Ser)	FECH	Jun 01, 1992	MedGen:C0162568,OMIM:177000,Orphanet:ORPHA79278,SNOMED CT:51022005	Erythropoietic protoporphyria	germline	18	57550734	TCAATCCTGTCTGCAGGGAGACTAAATCCTTCTTCACCAGCCAGCAGCTGTGACCCCCGCC
786205662	190038	NM_178454.5(DRAM2):c.79T>C (p.Tyr27His)	DRAM2	Nov 01, 2014	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005	Retinal dystrophy	germline	1	111131476	ATTTGGACATCTGCTGCTTTCATATTTTCATACATTACTGCAGTAACACTCCACCATATAG
606231406	150301	NM_000406.2(GNRHR):c.392T>C (p.Met131Thr)	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	67753944	AGCTTTTCTCCATGTATGCCCCAGCCTTCATGATGGTGGTGATCAGCCTGGACCGCTCCCT
59308628	77290	NM_001927.3(DES):c.1109T>C (p.Leu370Pro)	DES	May 22, 2016	MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909;MedGen:CN517202	Myofibrillar myopathy 1;not provided	germline	2	219421425	CCAGTGGCTACCAGGACAACATTGCGCGCCTGGAGGAGGAAATCCGGCACCTCAAGGATGA
72558431	26035	NM_000531.5(OTC):c.717+2T>C	OTC	Jun 01, 1991	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38408797	CCAAGTTGGCAGAGCAGTATGCCAAAGAGGTATGCTCTTTACATGTAAAGCTATTATTGCC
587783609	170123	NM_006579.2(EBP):c.310T>C (p.Tyr104His)	EBP	Feb 08, 2013	MedGen:C0282102,OMIM:302960,Orphanet:ORPHA35173	Chondrodysplasia punctata 2 X-linked dominant	germline	X	48526997	ATCTCTCTCTTCTTTTCTTCAGGGAAAGAGTATGCCAAGGGAGACAGCCGATACATCCTGT
72556282	103126	NM_000531.5(OTC):c.526T>C (p.Tyr176His)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401414	TTGTACCATCCTATCCAGATCCTGGCTGATTACCTCACGCTCCAGGTTGGTTTATTTATTT
61752115	22743	NM_002618.3(PEX13):c.977T>C (p.Ile326Thr)	PEX13	Sep 01, 1999	MedGen:C3554001,OMIM:614885	Peroxisome biogenesis disorder 11B	germline	2	61048535	CTAGCCTTGATGGCCAAACAACAGGACTTATACCTGCGAATTATGTCAAAATTCTTGGCAA
113994167	33877	NM_000018.3(ACADVL):c.848T>C (p.Val283Ala)	ACADVL	Sep 21, 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	7222272	GAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCA
-1	411548	NM_212482.2(FN1):c.367T>C (p.Cys123Arg)	FN1	Dec 28, 2017	Human Phenotype Ontology:HP:0002657,MedGen:C0700635,OMIM:184250,Orphanet:ORPHA93346;MedGen:C0432221,OMIM:184255,Orphanet:ORPHA93315,SNOMED CT:254078005	Spondylometaphyseal dysplasia;Spondylometaphyseal dysplasia - Sutcliffe type	germline	2	215433372	GAGCGTCCTAAAGACTCCATGATCTGGGACTGTACCTGCATCGGGGCTGGGCGAGGGAGAA
1060501022	400702	NM_000138.4(FBN1):c.2305T>C (p.Cys769Arg)	FBN1	Jul 12, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48496214	ATTTTCATTGACTTTGCAGATATTAATGAATGTGTACTGAACAGTCTCCTTTGTGACAATG
367543059	51276	NM_006517.4(SLC16A2):c.1253T>C (p.Leu418Pro)	SLC16A2	Apr 11, 2013	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59	Allan-Herndon-Dudley syndrome	not provided	X	74529295	GGGACTTCGGGGGCCTTATCGTCGTCTGTCTTTTCCTGGGCCTTTGCGATGGCTTCTTCAT
770729222	424250	NM_148897.2(SDR9C7):c.599T>C (p.Ile200Thr)	SDR9C7	Jul 14, 2017	MedGen:CN321864,OMIM:617574	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13	germline	12	56929515	TCTACTACTTTGGGGTGAAAGTCTGCATCATTGAGCCAGGGAACTATCGGACAGCCATTCT
374612640	248714	NM_198833.1(SERPINB8):c.2T>C (p.Met1Thr)	SERPINB8	Sep 13, 2016	MedGen:C4310710,OMIM:617115	Peeling skin syndrome 5	germline	18	63978310	TGCTGTGCCTTTGATGCAGACCTTCTCTGATGGATGACCTCTGTGAAGCAAATGGCACTTT
104894343	20067	NM_020638.2(FGF23):c.287T>C (p.Met96Thr)	FGF23	Nov 01, 2005	MedGen:C1876187,OMIM:211900,OMIM:610233,Orphanet:ORPHA306661	Tumoral calcinosis, familial, hyperphosphatemic	germline	12	4372622	CAGGTGTGATGAGCAGAAGATACCTCTGCATGGATTTCAGAGGCAACATTTTTGGATCAGT
1057519368	224868	NM_000314.6(PTEN):c.740T>C (p.Leu247Ser)	PTEN	Nov 01, 2015	MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548	Macrocephaly/autism syndrome	de novo	10	87957958	AGTTCATGTACTTTGAGTTCCCTCAGCCGTTACCTGTGTGTGGTGATATCAAAGTAGAGTT
879254547	245592	NM_000527.4(LDLR):c.499T>C (p.Cys167Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105405	AGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCT
587777186	106812	NM_176787.4(PIGN):c.808T>C (p.Ser270Pro)	PIGN	Mar 04, 2014	MedGen:C3279775,OMIM:614080,Orphanet:ORPHA280633	Multiple congenital anomalies-hypotonia-seizures syndrome 1	germline	18	62146023	CTTATTATTCTTTATATCTTATTTGTAGGTTCCCATGGGGCTGGTCATCCTTCAGAGACTT
28936387	23624	NM_000339.2(SLC12A3):c.1261T>C (p.Cys421Arg)	SLC12A3	Jan 01, 1996	MedGen:C0268450,OMIM:263800,Orphanet:ORPHA358,SNOMED CT:3188003	Familial hypokalemia-hypomagnesemia	germline	16	56879153	CCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCA
-1	359034	NM_004415.3(DSP):c.1865T>C (p.Leu622Pro)	DSP	Nov 22, 2016	MedGen:C4014393,OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	germline	6	7571546	TCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCA
121917769	27298	NM_003361.3(UMOD):c.376T>C (p.Cys126Arg)	UMOD	Jan 06, 2012	MedGen:C0268113,OMIM:162000,Orphanet:ORPHA209886,SNOMED CT:46785007	Familial juvenile gout	germline	16	20348925	GGGCTTAGCCACTGCCACGCCCTGGCCACATGTGTCAATGTGGTGGGCAGCTACTTGTGCG
1057519084	359161	NM_152416.3(NDUFAF6):c.226T>C (p.Ser76Pro)	NDUFAF6	Dec 06, 2016	MedGen:C1838951	Leigh syndrome due to mitochondrial complex I deficiency	germline	8	95032023	AGGAAACGGGATTATGAAGGTTATTTATGCTCCCTGCTGCTCCCTGCAGAATCCCGAAGCT
137852850	17711	NM_182760.3(SUMF1):c.463T>C (p.Ser155Pro)	SUMF1	Mar 02, 2017	MedGen:C0268263,OMIM:272200,Orphanet:ORPHA585,SNOMED CT:54898003;MedGen:CN517202	Multiple sulfatase deficiency;not provided	germline;unknown	3	4449322	CCTTCCTTATAGGCTGAGAAGTTTGGCGACTCCTTTGTCTTTGAAGGCATGTTGAGTGAGC
62644471	108315	NM_000277.2(PAH):c.1249T>C (p.Tyr417His)	PAH	Jul 21, 2017	MedGen:CN517202	not provided	germline	12	102840466	CCTCGGCCCTTCTCAGTTCGCTACGACCCATACACCCAAAGGATTGAGGTCTTGGACAATA
786203987	185672	NM_052867.3(NALCN):c.1526T>C (p.Leu509Ser)	NALCN	May 19, 2015	MedGen:C4225398,OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	de novo;germline	13	101229493	TATTTGGTCCTGGAAAAAAGCTTGGGAGTTTGGTTGTATTTACTGCCAGCCTCTTGATTGT
121909634	31329	NM_023110.2(FGFR1):c.1141T>C (p.Cys381Arg)	FGFR1	Mar 01, 2006	MedGen:C0432283,OMIM:166250,Orphanet:ORPHA2645,SNOMED CT:254144002	Osteoglophonic dysplasia	germline	8	38419676	TCGCCCCTGTACCTGGAGATCATCATCTATTGCACAGGGGCCTTCCTCATCTCCTGCATGG
1048095	34022	NM_000352.4(ABCC8):c.674T>C (p.Leu225Pro)	ABCC8	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	17461731	TACGCTTCCTGCAGCCCTTCGTGAATCTGCTGTCCAAAGGCACCTACTGGTGGATGAACGC
104894352	28519	NM_000217.2(KCNA1):c.1223T>C (p.Val408Ala)	KCNA1	Jun 25, 2015	MedGen:C1719788,OMIM:160120,Orphanet:ORPHA37612,SNOMED CT:421182009	Episodic ataxia type 1	germline	12	4912601	TAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGA
-1	440048	NM_152703.4(SAMD9L):c.2672T>C (p.Ile891Thr)	SAMD9L	Mar 01, 2017	MedGen:C1327919,OMIM:159550,Orphanet:ORPHA2585	Myelocerebellar disorder	germline	7	93133300	AGAACTGTGAAAACTTTTATTCCTTCATGATCATGAAAAGCAATTTTGATGAAACATATAT
28940285	17447	NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro)	PINK1	Apr 19, 2005	MedGen:C1853833,OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	germline	1	20645640	GCCTCGCCGCCATGATGCTGCTGCAGCTGCTGGAAGGCGTGGACCATCTGGTTCAACAGGG
121908618	21083	NM_004273.4(CHST3):c.920T>C (p.Leu307Pro)	CHST3	Oct 01, 2010	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	germline	10	72007951	TCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTTCGCCGGCAA
879253772	244062	NM_014491.3(FOXP2):c.1591T>C (p.Tyr531His)	FOXP2	Mar 02, 2016	MedGen:C0750927,OMIM:602081,Orphanet:ORPHA209908	Speech-language disorder 1	germline	7	114659617	TCTGACAGGCAGTTAACACTTAATGAAATTTACAGCTGGTTTACACGGACATTTGCTTACT
104894813	25473	NM_001097642.2(GJB1):c.397T>C (p.Trp133Arg)	GJB1	Oct 01, 1995	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	X-linked hereditary motor and sensory neuropathy	germline	X	71224104	CACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGC
59661476	77376	NM_002055.4(GFAP):c.269T>C (p.Leu90Pro)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915218	TTGCCAGCTACATCGAGAAGGTTCGCTTCCTGGAACAGCAAAACAAGGCGCTGGCTGCTGA
121965013	15285	NM_000398.6(CYB5R3):c.218T>C (p.Leu73Pro)	CYB5R3	May 01, 2008	MedGen:C2749559	Methemoglobinemia, type I	germline	22	42631386	CCCTGCCGTCACCCCAGCACATCCTGGGCCTCCCTGTCGGTGAGTCACGCCCCTGCTGGGC
1057519702	362783	NM_000222.2(KIT):c.1510T>C (p.Phe504Leu)	KIT	Oct 02, 2014	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Malignant melanoma	somatic	4	54726020	TACAACGATGTGGGCAAGACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAG
-1	488060	NM_032957.4(RTEL1):c.102+2T>C	RTEL1	Jun 16, 2016	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED CT:74911008	Dyskeratosis congenita	germline	20	63659506	TGACCAAGGTCCTGGAATGTCTGCAGCAGGTAGAGCACAGGCCCCGAGGAAAGGACTGCGG
1057516100	354005	NM_172107.3(KCNQ2):c.911T>C (p.Phe304Ser)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63439614	CGGCAACCTTCACCCTCATCGGTGTCTCCTTCTTCGCGCTGCCTGCAGTAAGTCCAGCTGC
387907037	39824	NM_022489.3(INF2):c.383T>C (p.Leu128Pro)	INF2	May 12, 2017	MedGen:C3280845,OMIM:614455,Orphanet:ORPHA93114;MedGen:CN517202	Charcot-Marie-Tooth disease, dominant intermediate E;not provided	germline	14	104701748	TCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGC
122445094	26761	NM_000489.4(ATRX):c.4840T>C (p.Cys1614Arg)	ATRX	Mar 24, 1995	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847	ATR-X syndrome	germline	X	77633682	GTGGTAAGTTTTCTTCATACAGTTCTTTTGTGTGACAAACTGGATTTCAGCACGGCGTTAG
786202732	181611	NM_003000.2(SDHB):c.574T>C (p.Cys192Arg)	SDHB	Oct 04, 2016	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;not provided	germline	1	17024041	GGGCTCTACGAGTGCATTCTCTGTGCCTGCTGTAGCACCAGCTGCCCCAGCTACTGGTGGA
199469642	106414	NM_017415.2(KLHL3):c.1280T>C (p.Met427Thr)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137637335	AGACCAACGAGTGGTTCTTTGTGGCCCCGATGAACACGCGGCGGAGCAGTGTGGGTGTGGG
397516432	52736	NM_000441.1(SLC26A4):c.765+2T>C	SLC26A4	Nov 23, 2016	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:CN169374	Enlarged vestibular aqueduct;Pendred's syndrome;not specified	germline	7	107675111	ACTACAATGGAGTTCTCTCTATTATCTATGTAAGTGTTGCTTCTTGCTCCAGGGATGGGTC
72555364	15976	NM_000404.3(GLB1):c.247T>C (p.Tyr83His)	GLB1	Aug 01, 1995	MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004	Mucopolysaccharidosis, MPS-IV-B	germline	3	33068969	CCAGGAAGGGGCTGTGTGTGTCTTGGCAGGTATGTGCCCTGGAACTTTCATGAGCCCTGGC
773601814	198632	NM_015665.5(AAAS):c.938T>C (p.Val313Ala)	AAAS	May 13, 2016	MedGen:C0271742,OMIM:231550,Orphanet:ORPHA869,SNOMED CT:45414006	Glucocorticoid deficiency with achalasia	unknown	12	53309018	AGCTGTAATTTGCTTTTCTCTGGCTCAGAGTCTGGGAGGCCCAGATGTGGACTTGTGAGAG
869320710	227147	NM_000409.4(GUCA1A):c.320T>C (p.Ile107Thr)	GUCA1A	Apr 12, 2016	MedGen:C1865869,OMIM:602093	Cone dystrophy 3	germline	6	42178398	AGCTCTATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCA
1085307434	414376	NM_001114753.2(ENG):c.1742-22T>C (p.C582_R618del)	ENG	-	MedGen:C1832529	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	9	127816075	GGGGATGGGGCAGGGGCAGAGTGGCAGTGCTGATGGCGTCGGCCCTCTCTAGGTTGCACAA
61749372	15340	NM_000552.4(VWF):c.3814T>C (p.Cys1272Arg)	VWF	May 01, 2010	MedGen:CN517202;MedGen:C1282968,Orphanet:ORPHA166084	not provided;von Willebrand disease, type 2a	germline	12	6019604	ATCTCGGAACCGCCGTTGCACGATTTCTACTGCAGCAGGCTACTGGACCTGGTCTTCCTGC
267607012	15538	NM_173560.3(RFX6):c.649T>C (p.Ser217Pro)	RFX6	Feb 11, 2010	MedGen:C2748662,OMIM:615710,Orphanet:ORPHA293864	Mitchell-Riley syndrome	germline	6	116895184	AATGGAAAATGTACTAATTTTTTAAGGTTTTCTGGAAGCAAGCTAAAGAATGAGGTAAGAA
132630274	26164	NM_000377.2(WAS):c.809T>C (p.Leu270Pro)	WAS	Mar 01, 2001	MedGen:C1845987,OMIM:300299,Orphanet:ORPHA86788	Severe congenital neutropenia X-linked	germline	X	48688331	TGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCA
796052090	200668	NM_138413.3(HOGA1):c.533T>C (p.Leu178Pro)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97599744	ACAGTGTCCCAGCCAACACAGGGCTGGACCTGCCTGTGGATGCAGTGGTCACGCTTTCCCA
386134125	51217	NM_000096.3(CP):c.650T>C (p.Phe217Ser)	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	germline	3	149209342	AAGAAAAAGAAAAACATATTGACCGAGAATTTGTGGTGATGTTTTCTGTGGTGGATGAAAA
60944949	29639	NM_005557.3(KRT16):c.395T>C (p.Leu132Pro)	KRT16	Jan 29, 2016	MedGen:C1706595,OMIM:167200;MedGen:CN517202	Pachyonychia congenita 1;not provided	germline	17	41612294	AGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGCTCTGGAGGAGGCCAA
104894665	28500	NM_000371.3(TTR):c.191T>C (p.Phe64Ser)	TTR	Feb 01, 2002	MedGen:C3151470;MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED;Amyloidogenic transthyretin amyloidosis	germline	18	31593017	GAAAGGCTGCTGATGACACCTGGGAGCCATTTGCCTCTGGGTAAGTTGCCAAAGAACCCTC
72558490	102990	NM_000531.5(OTC):c.1022T>C (p.Leu341Pro)	OTC	-	MedGen:CN517202	not provided	unknown	X	38421039	TGTTGTGTCATCAGGCTGTCATGGTGTCCCTGCTGACAGATTACTCACCTCAGCTCCAGAA
398122806	38852	NM_003172.3(SURF1):c.679T>C (p.Trp227Arg)	SURF1	Sep 21, 2011	MedGen:C1850599	Leigh syndrome due to mitochondrial complex IV deficiency	germline	9	133352518	GTCCCTGAGAACAATCCAGAAAGGAACCACTGGCATTATCGAGACCTGGAAGCTATGGCCA
397515329	76383	NM_001382.3(DPAGT1):c.503T>C (p.Leu168Pro)	DPAGT1	Aug 01, 2013	MedGen:C2931004,OMIM:608093,Orphanet:ORPHA86309	Congenital disorder of glycosylation type 1J	germline	11	119100402	TTTTCCTACCATCTCTCCCCGCAGGAATCCTGTACTATGTCTACATGGGGCTGCTGGCAGT
1085308012	415766	NM_000444.5(PHEX):c.1366T>C (p.Trp456Arg)	PHEX	Apr 19, 2015	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline	X	22133586	TTTATTGACATGCTAGAGAAAGAAAATGAGTGGATGGATGCAGGAACGAAAAGGAAAGCCA
113453570	373484	NM_000138.4(FBN1):c.6379+2T>C	FBN1	Apr 20, 2015	MedGen:CN517202	not provided	germline	15	48437320	CATCGTGGGACCTGATGATTCAGCAGTTGGTCAGTTGCCTGTGCTGGATTCTCAGCATTTC
80357438	70323	NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser)	BRCA1	May 02, 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	43124032	AAAATGTCATTAATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGTCAGCACAAG
72656357	32272	NM_000089.3(COL1A2):c.279+2T>C	COL1A2	Feb 27, 2017	MedGen:CN706304,OMIM:617821;MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2;Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	germline	7	94401622	AAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATCTGTTTATCTTAGCCAAAAAAA
121909099	22303	NM_005603.5(ATP8B1):c.863T>C (p.Leu288Ser)	ATP8B1	Mar 01, 1998	MedGen:C0268312,OMIM:211600,Orphanet:ORPHA172,SNOMED CT:74162007	Progressive intrahepatic cholestasis	germline	18	57695248	CACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCTGATAAAATTTTGTTACGTGGCTG
312262793	49682	NM_024408.3(NOTCH2):c.1117T>C (p.Cys373Arg)	NOTCH2	Feb 28, 2013	MedGen:C1857761,OMIM:610205,Orphanet:ORPHA261629	Alagille syndrome 2	not provided	1	119968224	CCTTTGCCCCACCCTGTGACAGGTCTCCTGTGTCATCTGGATGATGCATGCATCAGCAATC
-1	449140	NM_001165963.2(SCN1A):c.2T>C (p.Met1Thr)	SCN1A	Nov 01, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN517202	Early infantile epileptic encephalopathy;not provided	germline	2	166073620	ATGGTAATTAAAATGTGCAGGATGACAAGATGGAGCAAACAGTGCTTGTACCACCAGGACC
121912527	29435	NM_000233.3(LHCGR):c.391T>C (p.Cys131Arg)	LHCGR	Jul 01, 1997	MedGen:C2673495	Leydig cell hypoplasia, partial	germline	2	48723689	CACTATCCTGTCCCTAATCACAGGAGCATCTGTAACACAGGCATCAGAAAGTTTCCAGATG
863225461	214835	NM_000342.3(SLC4A1):c.2191T>C (p.Ser731Pro)	SLC4A1	Nov 01, 2005	MedGen:C1861453,OMIM:185020,Orphanet:ORPHA398088	Pseudohyperkalemia Cardiff	germline	17	44253238	ATGCCCTGGCTCAGTGCCACCACCGTGCGTTCCGTCACCCATGCCAACGCCCTCACTGTCA
104894300	23086	NM_005055.4(RAPSN):c.41T>C (p.Leu14Pro)	RAPSN	Jan 01, 2003	MedGen:C4225367,OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	germline	11	47448924	ACCAGACCAAGCAGCAGATCGAGAAGGGGCTCCAGCTGTACCAGTCCAACCAGACAGAGAA
-1	485799	NM_000061.2(BTK):c.1706T>C (p.Leu569Pro)	BTK	Sep 25, 2007	MedGen:C1832241,OMIM:601495,Orphanet:ORPHA33110	Agammaglobulinemia, non-Bruton type	germline	X	101353914	TTCCAGTCCGGTGGTCCCCACCGGAAGTCCTGATGTATAGCAAGTTCAGCAGCAAATCTGA
1085307231	414167	NM_001204.6(BMPR2):c.419-10T>C	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202513709	TTTAAAAAAAAATGACATTTCAAAATTTGTTTTCTTTTAGGTCCACCTCATTCATTTAACC
-1	481790	NM_000162.4(GCK):c.483+2T>C	GCK	Dec 13, 2017	MedGen:CN517202	not provided	germline	7	44150954	TTCCTGTGAGGCACGAAGACATCGATAAGGTGGGCCGGGTGGAGGGGCAGAAGGCAGATGA
587784171	168244	NM_022455.4(NSD1):c.5989T>C (p.Tyr1997His)	NSD1	Jun 20, 2016	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177282561	TATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATG
397514602	48406	NM_004055.4(CAPN5):c.731T>C (p.Leu244Pro)	CAPN5	Jan 01, 2012	MedGen:C1860404,OMIM:193235	Vitreoretinopathy, neovascular inflammatory	germline	11	77115426	CAGTGACAGCAGCTGACATGGAGGCCCGCCTGGCGTGCGGCCTGGTAAAGGGCCACGCATA
879254847	246070	NM_000527.4(LDLR):c.1255T>C (p.Tyr419His)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113346	GTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACG
387906446	25270	NM_000132.3(F8):c.1729T>C (p.Ser577Pro)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154956980	ATTGGCCCTCTCCTCATCTGCTACAAAGAATCTGTAGATCAAAGAGGAAACCAGGTGAGTT
267606658	20240	NM_054027.4(ANKH):c.1172T>C (p.Leu391Pro)	ANKH	Apr 01, 2010	MedGen:C1852502,OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	germline	5	14713637	TCACAGTGAGGGCGCATCTCACCGGGTGGCTGATGACACTGAAGAAAACCTTCGTCCTTGC
367543285	70504	NM_000435.2(NOTCH3):c.4556T>C (p.Leu1519Pro)	NOTCH3	Jun 06, 2013	MedGen:C0432284,OMIM:228550,Orphanet:ORPHA2591;MedGen:C3809084,OMIM:615293	Infantile myofibromatosis 1;Infantile myofibromatosis 2	germline	19	15174248	CCCGCGGCGTGCTGGTGCTCACAGTGCTGCTGCCGCCAGAGGAGCTACTGCGTTCCAGCGC
730880863	179666	NM_000257.3(MYH7):c.1048T>C (p.Tyr350His)	MYH7	Oct 31, 2013	MedGen:CN517202	not provided	germline	14	23429865	GGCTTCACTTCAGAGGAGAAAAACTCCATGTATAAGCTGACAGGCGCCATCATGCACTTTG
121912495	29562	NM_170707.3(LMNA):c.1139T>C (p.Leu380Ser)	LMNA	Aug 01, 2008	MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973;MedGen:CN517202	Congenital muscular dystrophy, LMNA-related;not provided	germline	1	156136103	ACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGA
1085307207	414142	NM_001204.6(BMPR2):c.319T>C (p.Ser107Pro)	BMPR2	-	MedGen:CN243982	Pulmonary arterial hypertension associated with congenital heart disease	germline	2	202467590	GAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCT
879254540	245584	NM_000527.4(LDLR):c.478T>C (p.Cys160Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105384	CCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACG
397514406	36402	NM_000060.4(BTD):c.1214T>C (p.Leu405Pro)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645070	ACTCTGAGATGATGTATGACAATTTCACCCTGGTCCCTGTCTGGGGAAAGGAAGGCTATCT
121913654	29162	NM_000257.3(MYH7):c.5378T>C (p.Leu1793Pro)	MYH7	Oct 08, 2014	MedGen:C3495498,OMIM:192600;MedGen:C3150690;MedGen:C1842160,OMIM:608358,SNOMED CT:699267007;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;Left ventricular noncompaction 5;Myosin storage myopathy;not provided	germline	14	23415176	AGAAGAACATGGAACAGACCATTAAGGACCTGCAGCACCGGCTGGACGAAGCCGAGCAGAT
57052654	77473	NM_005554.3(KRT6A):c.1406T>C (p.Leu469Pro)	KRT6A	Oct 01, 2005	MedGen:C3714948,OMIM:615726;MedGen:CN517202	Pachyonychia congenita 3;not provided	germline	12	52488346	ACGTGGAGATCGCCACCTACCGCAAGCTGCTGGAGGGTGAGGAGTGCAGGTGGGTAACTGA
751713917	227324	NM_004820.4(CYP7B1):c.259+2T>C	CYP7B1	Mar 18, 2016	MedGen:C1849115,OMIM:270800,Orphanet:ORPHA100986	Spastic paraplegia 5A	germline	8	64624401	TGGTGACACTTTCACAGTTCTTCTTGGTGGTAAGAAGCACTTCTATTAATACCTTATATAT
62508646	15654	NM_000277.2(PAH):c.1045T>C (p.Ser349Pro)	PAH	Sep 20, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102844356	TCCATAAAGGCATATGGTGCTGGGCTCCTGTCATCCTTTGGTGAATTACAGGTATGACCTT
121917926	79457	NM_006920.4(SCN1A):c.5113T>C (p.Cys1705Arg)	SCN1A	Aug 04, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	germline;unknown	2	165992129	AACTTTGAGACCTTTGGCAACAGCATGATCTGCCTATTCCAAATTACAACCTCTGCTGGCT
180177222	200496	NM_000030.2(AGXT):c.449T>C (p.Leu150Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240871374	CTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCAC
80358009	131389	NM_007294.3(BRCA1):c.5467+2T>C	BRCA1	May 08, 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	43047641	TGCCTGGACAGAGGACAATGGCTTCCATGGTAAGGTGCCTGCATGTACCTGTGCTATATGG
863225286	214521	NM_020226.3(PRDM8):c.781T>C (p.Phe261Leu)	PRDM8	Nov 13, 2015	MedGen:C4225258,OMIM:616640,Orphanet:ORPHA324290	Epilepsy, progressive myoclonic, 10	germline	4	80202243	GGCGGCAGCAGCGCGAAGCCATCCACAGACTTCCACAACCTGGCCAGGGAGCTGGAAAACT
137854459	31465	NM_000138.4(FBN1):c.4987T>C (p.Cys1663Arg)	FBN1	Dec 07, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48463977	GAGACTCCTGGAATCTGTGGTCCAGGGACATGTTACAACACCGTTGGCAACTACACCTGTA
28939088	19597	NM_153638.3(PANK2):c.1310T>C (p.Met437Thr)	PANK2	Nov 25, 2003	MedGen:C1846582,OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	germline	20	3912532	GCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGA
1057517461	357398	NM_000112.3(SLC26A2):c.699+2T>C	SLC26A2	Feb 23, 2016	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	Achondrogenesis, type IB;Atelosteogenesis type 2;Diastrophic dysplasia;Multiple epiphyseal dysplasia 4	unknown	5	149978353	CTGTAACCTTTATAGCTGGAGTTTATCAGGTAAGCAGCAATGAAACAATTGGTTATTTCTA
137853325	26493	NM_003639.4(IKBKG):c.1249T>C (p.Cys417Arg)	IKBKG	Jun 01, 2002	MedGen:CN043445;MedGen:C1846006,OMIM:300291,Orphanet:ORPHA98813	Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia;Hypohidrotic ectodermal dysplasia with immune deficiency	germline	X	154564450	ATGGACACCCTGCAGATACATGTCATGGAGTGCATTGAGTAGGGCCGGCCAGTGCAAGGCC
104893747	29316	NM_198159.2(MITF):c.1195T>C (p.Ser399Pro)	MITF	Jan 01, 2000	MedGen:C1860339,OMIM:193510	Waardenburg syndrome type 2A	germline	3	69964880	CTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCTCTC
120074165	18232	NM_017653.3(DYM):c.1624T>C (p.Cys542Arg)	DYM	Jan 01, 2009	MedGen:C1846431,OMIM:607326	Smith-McCort dysplasia 1	germline	18	49118866	ATTCGAATGATGTTAGAGATCATCAACTCCTGCCTGACAAATTCCCTTCACCACAACCCAA
111033302	52722	NM_000441.1(SLC26A4):c.2T>C (p.Met1Thr)	SLC26A4	Feb 11, 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	107661643	CCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCC
137853028	21543	NM_001080463.1(DYNC2H1):c.3719T>C (p.Ile1240Thr)	DYNC2H1	May 01, 2009	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Short-rib thoracic dysplasia 3 with or without polydactyly	germline	11	103155476	TTGGTGATTTGCTCAGAGTAGCTGATACAATTGTAGCCAAAGCTGCCGACCTTAAAGTATG
137852310	25523	NM_000032.4(ALAS2):c.595T>C (p.Tyr199His)	ALAS2	Mar 01, 1999	MedGen:C0221018,OMIM:300751,Orphanet:ORPHA98362,SNOMED CT:62677000	Hereditary sideroblastic anemia	germline	X	55021095	AAGGATGTGTCCGTCTGGTGTAGTAATGATTACCTGGGCATGAGCCGACACCCTCAGGTCT
587779404	106592	NM_000404.3(GLB1):c.922T>C (p.Phe308Leu)	GLB1	-	MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007	Infantile GM1 gangliosidosis	inherited	3	33051791	CGTGTTCTTTTGTTTCCTTGTAGGTACATGTTTATAGGTGGGACCAATTTTGCCTATTGGA
104893696	23364	NM_000388.3(CASR):c.382T>C (p.Phe128Leu)	CASR	Oct 10, 1996	MedGen:C0342345,OMIM:601198	Hypocalcemia, autosomal dominant 1	germline	3	122257277	AACAAAATTGATTCTTTGAACCTTGATGAGTTCTGCAACTGCTCAGAGCACATTCCCTCTA
869312718	225896	NM_017671.4(FERMT1):c.1198T>C (p.Ser400Pro)	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6089031	AAACAATATTGGTTTATCTTTAAAGACACATCCATAGCATACTTTAAAAATAAGGAACTTG
80356536	27952	NM_152296.4(ATP1A3):c.2338T>C (p.Phe780Leu)	ATP1A3	May 04, 2014	MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Dystonia 12	germline;inherited	19	41970468	CTGACCAGCAATATCCCGGAGATCACGCCCTTCCTGCTGTTCATCATGGCCAACATCCCGC
111033555	32520	NM_000493.3(COL10A1):c.1798T>C (p.Ser600Pro)	COL10A1	Aug 01, 2000	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	germline	6	116120318	ACTTGTCAGATACCAGGAATATACTATTTTTCATACCACGTGCATGTGAAAGGGACTCATG
797045018	205041	NM_001081550.1(THOC2):c.1313T>C (p.Leu438Pro)	THOC2	Aug 06, 2015	MedGen:C0796218,OMIM:300957,Orphanet:ORPHA457240	Mental retardation, X-linked 12	germline	X	123665715	GGAGAGACGTGTTCAATATGTTCTGTTACCTTGGTCCTCACCTTTCTCACGATCCCATTTT
879254525	245562	NM_000527.4(LDLR):c.442T>C (p.Cys148Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11105348	TCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCT
863225436	214809	NM_003234.3(TFRC):c.58T>C (p.Tyr20His)	TFRC	Jan 01, 2016	Human Phenotype Ontology:HP:0005387,MedGen:C0494261;MedGen:C4225219,OMIM:616740,Orphanet:ORPHA476113	Combined immunodeficiency;Immunodeficiency 46	germline	3	196075339	GCAACACAGTTTGGTGGAGAACCATTGTCATATACCCGGTTCAGCCTGGCTCGGCAAGTAG
1057520617	374549	NM_000138.4(FBN1):c.6772T>C (p.Cys2258Arg)	FBN1	Apr 17, 2015	MedGen:CN517202	not provided	germline	15	48430770	GAGGATGAGTGTGAAGAGGGAAAACATGACTGTACTGAAAAACAAATGGAATGCAAGAACC
122445110	26783	NM_000489.4(ATRX):c.6149T>C (p.Ile2050Thr)	ATRX	Nov 03, 2016	MeSH:D030342,MedGen:C0950123;MedGen:C4016452	Inborn genetic diseases;Mental retardation-hypotonic facies syndrome, X-linked	germline	X	77589902	TCAGCCAGTCCCTCATATCTCTGGACTTGATTGAAGATTTTCTTGAATTAGCTAGTAGGGA
121434476	24651	m.10010T>C	MT-TG	Apr 23, 2002	MedGen:C0241885	Exercise intolerance	germline	MT	10010	ATGAGGGTCTTACTCTTTTAGTATAAATAGTACCGTTAACTTCCAATTAACTAGTTTTGAC
28933377	28571	NM_000174.4(GP9):c.167T>C (p.Leu56Pro)	GP9	Dec 01, 1998	MedGen:C1856448	Bernard-Soulier syndrome type C	germline	3	129061906	TGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGT
121965011	15280	NM_000398.6(CYB5R3):c.610T>C (p.Cys204Arg)	CYB5R3	May 01, 2008	MedGen:C2749560	Methemoglobinemia type 2	germline	22	42627327	ATCATGAAGGACCCTGATGACCACACTGTGTGCCACCTGCTCTTTGCCAACCAGGTCAGTG
398122602	262841	NM_000059.3(BRCA2):c.8331+2T>C	BRCA2	Jul 12, 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	32363535	TTGAAGCCCCAGAATCTCTTATGTTAAAGGTAAATTAATTTGCACTCTTGGTAAAAATCAG
11694	23521	NM_006432.3(NPC2):c.199T>C (p.Ser67Pro)	NPC2	Jul 22, 2008	MedGen:C1843366,OMIM:607625	Niemann-Pick disease type C2	germline	14	74484579	TGATTCTCTTTTTTTCTCTTAGATATTCAGTCTAAAAGCAGCAAGGCCGTGGTGCATGGCA
267606880	16093	NM_022489.3(INF2):c.125T>C (p.Leu42Pro)	INF2	Jan 01, 2010	MedGen:C2750475,OMIM:613237	Focal segmental glomerulosclerosis 5	germline	14	104701490	GCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGG
111033597	23008	NM_130838.1(UBE3A):c.389T>C (p.Ile130Thr)	UBE3A	Apr 30, 2004	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25371725	GAGAGGATTATTCCCCTTTAATCCGTGTTATTGGAAGAGTTTTTTCTAGTGCTGAGGCATT
864309490	215005	NM_001615.3(ACTG2):c.134T>C (p.Met45Thr)	ACTG2	Mar 27, 2014	MedGen:C1835084,OMIM:155310,Orphanet:ORPHA2241	Visceral myopathy	de novo	2	73902367	CTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGT
57443665	18867	NM_000017.3(ACADS):c.529T>C (p.Trp177Arg)	ACADS	May 23, 2017	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007;MedGen:CN517202	Deficiency of butyryl-CoA dehydrogenase;not provided	germline;unknown	12	120737893	TCCACCACCGCCCGGGCCGAGGGCGACTCATGGGTTCTGAATGGAACCAAAGCCTGGATCA
28937897	19284	NM_021020.3(LZTS1):c.85T>C (p.Ser29Pro)	LZTS1	Mar 30, 1999	MedGen:C4016881	Esophageal squamous cell carcinoma, somatic	somatic	8	20255097	CGGGCTTCGCAGTACAAGCTGCGCAAGTCCTCCCACCTCAAGAAGCTCAACCGGTATTCCG
1057516086	354022	NM_172107.3(KCNQ2):c.608T>C (p.Leu203Pro)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63444741	CCACATCTGCGCTCCGGAGCCTGCGCTTCCTGCAGATTCTGCGGATGATCCGCATGGACCG
796052093	200692	NM_004370.5(COL12A1):c.7001T>C (p.Ile2334Thr)	COL12A1	Aug 04, 2015	MedGen:C4225313,OMIM:616471;MedGen:CN517202	Bethlem myopathy 2;not provided	germline	6	75121387	TTGTGTTCTTGACTGATGCCTCCTGGAGCATTGGGGACGATAATTTTAACAAAGTTGTAAA
886041118	263878	NM_030813.5(CLPB):c.1456T>C (p.Cys486Arg)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72295612	CTGACAGATGGAAAAGGGAAGACCATTGATTGCAAGGACGCCATCTTCATCATGACCTCCA
398124282	101537	NM_014795.3(ZEB2):c.73+2T>C	ZEB2	Mar 25, 2013	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144517276	CAAACAAGCCAATCCCAGGAGGAAAAACGGTAAGAAGCAGCCCGAACCAAACTTTTCCGGG
367543254	36491	NM_000155.3(GALT):c.336T>C (p.Ser112=)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647664	AGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCT
672601307	171718	NM_005154.4(USP8):c.2152T>C (p.Ser718Pro)	USP8	Sep 26, 2017	MedGen:C0221406,OMIM:219090,SNOMED CT:190502001	Pituitary dependent hypercortisolism	somatic	15	50490443	AGGGAACCTTCCAAACTGAAGCGCTCCTACTCCTCCCCAGATATAACCCAGGCTATTCAAG
387906897	39413	NM_020433.4(JPH2):c.421T>C (p.Tyr141His)	JPH2	Jun 01, 2007	MedGen:C3151264,OMIM:613873	Familial hypertrophic cardiomyopathy 17	germline	20	44160366	GGCCAGTTCACCAACGGCATGCGCCATGGCTACGGAGTACGCCAGAGCGTGCCCTACGGGA
778220779	210444	NM_000071.2(CBS):c.325T>C (p.Cys109Arg)	CBS	Jan 25, 2017	Human Phenotype Ontology:HP:0002156,MedGen:C0019880;MedGen:C3150344,OMIM:236200;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Homocystinuria;Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not provided	germline	21	43066369	GTGATTCATCTCTGCCTCCCAGTGGCCAAGTGTGAGTTCTTCAACGCGGGCGGGAGCGTGA
63750961	96357	NM_000251.2(MSH2):c.2089T>C (p.Cys697Arg)	MSH2	Jul 01, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47476450	CTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACT
137852900	17814	NM_024312.4(GNPTAB):c.1120T>C (p.Phe374Leu)	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	germline	12	101770185	TTTTTTGTTTGTTGTTGTTAAAAGGATGTTTTTCGAAATTTGAGCCACTTGCCTACCTTTA
112341092	223795	NM_000169.2(GLA):c.1244T>C (p.Leu415Pro)	GLA	Jun 03, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101397855	GTCACATAAATCCCACAGGCACTGTTTTGCTTCAGCTAGAAAATACAATGCAGATGTCATT
-1	434114	NM_001127701.1(SERPINA1):c.1226T>C (p.Met409Thr)	SERPINA1	Sep 15, 2016	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007	Alpha-1-antitrypsin deficiency	germline	14	94378480	TTGAACAAAATACCAAGTCTCCCCTCTTCATGGGAAAAGTGGTGAATCCCACCCAAAAATA
886041495	264502	NM_002834.4(PTPN11):c.845T>C (p.Ile282Thr)	PTPN11	Feb 08, 2016	MedGen:CN517202	not provided	germline	12	112473032	AAAACAAAAACAAAAATAGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGCTCA
121913517	28904	NM_000222.2(KIT):c.1676T>C (p.Val559Ala)	KIT	May 13, 2016	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;MedGen:C2674636;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;Human Phenotype Ontology:HP:0100522,MeSH:D013945,MedGen:C0040100,Orphanet:ORPHA99867	Gastrointestinal stroma tumor;Gastrointestinal stromal tumor, familial;Malignant melanoma;Thymoma	germline;somatic	4	54727444	AGAAACCCATGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGT
281860291	46965	NM_018713.2(SLC30A10):c.1046T>C (p.Leu349Pro)	SLC30A10	Aug 30, 2012	OMIM:613280	Hypermanganesemia with dystonia 1	not provided	1	219915861	AACTTGTAAGTGGAAAGATTATTGCCACCCTGCACATCAAGTATCCTAAGGACAGGGGATA
387906481	25696	NM_000133.3(F9):c.82T>C (p.Cys28Arg)	F9	Sep 11, 2013	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139530846	TGCCTTTTAGGATATCTACTCAGTGCTGAATGTACAGGTTTGTTTCCTTTTTTAAAATACA
1060505033	404663	NM_021998.4(ZNF711):c.731T>C (p.Ile244Thr)	ZNF711	Mar 29, 2017	MedGen:C2749020,OMIM:300803	ZNF711-Related X-linked Mental Retardation	germline	X	85264383	CTAAAGAAGATGGGTTTGGTTCTGAAGTTATAAAAGTGTATATATTTAAAGCGGAGGCTGA
72558445	103221	NM_000531.5(OTC):c.793T>C (p.Trp265Arg)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408951	CATGGAGGCAATGTATTAATTACAGACACTTGGATAAGCATGGGACAAGAAGAGGAGAAGA
121912492	29575	NM_002292.3(LAMB2):c.961T>C (p.Cys321Arg)	LAMB2	Sep 01, 2006	MedGen:C3280113,OMIM:614199,Orphanet:ORPHA306507	Nephrotic syndrome, type 5, with or without ocular abnormalities	germline	3	49130815	ATCTGCAAACACAACACACGTGGCCTCAACTGCGAGCAGTGTCAGGATTTCTATCGTGACC
137852531	24985	NM_000291.3(PGK1):c.263T>C (p.Leu88Pro)	PGK1	Mar 15, 1991	MedGen:C1970848,OMIM:300653,Orphanet:ORPHA713	Phosphoglycerate kinase 1 deficiency	germline	X	78113890	TAGAGCCAGTTGCTGTAGAACTCAAATCTCTGCTGGGCAAGTAAGTGCCAGGCTCTGGTGC
1060499554	362392	NM_001733.4(C1R):c.1303T>C (p.Trp435Arg)	C1R	Aug 23, 2016	Gene:791254,MedGen:C0268347,OMIM:130080,Orphanet:ORPHA75392,SNOMED CT:50869007	Ehlers-Danlos syndrome, type 8	germline	12	7082077	GGGGTGTACACCTGCACAGCACAGGGCATTTGGAAGAATGAACAGAAGGGAGAGAAGATTC
-1	426219	NM_000421.3(KRT10):c.1373+2T>C	KRT10	May 09, 2017	MedGen:CN517202	not provided	germline	17	40819515	TACCGCAGCCTGCTAGAAGGAGAGGGAAGGTAAATTTTAAAATGAAAAGTTATCCCAGTTT
727505381	49166	NM_005633.3(SOS1):c.2104T>C (p.Tyr702His)	SOS1	Nov 17, 2016	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN517202	Noonan syndrome;not provided	germline;unknown	2	39013523	GTATGTCGGCACTGGGTAGAGCACCACTTCTATGATTTTGAAAGAGATGCATATCTTTTGC
397514561	48283	NM_017802.3(DNAAF5):c.2384T>C (p.Leu795Pro)	DNAAF5	Oct 05, 2012	MedGen:C3543825,OMIM:614874	Ciliary dyskinesia, primary, 18	germline	7	780097	GCAGTGTCCAGTACCTGTACCGAGAGTTGCTGGTTCACCTTGACGATCCAGAGAGGGCCAT
132630279	26113	NM_001128834.2(PLP1):c.487T>C (p.Trp163Arg)	PLP1	Sep 18, 2012	Human Phenotype Ontology:HP:0003269,MedGen:C0205711,OMIM:312080,Orphanet:ORPHA702,SNOMED CT:64855000;MedGen:CN517202	Pelizaeus-Merzbacher disease;not provided	germline	X	103787831	GTGGGCATCACCTATGCCCTGACCGTTGTGTGGCTCCTGGTGTTTGCCTGCTCTGCTGTGC
879254809	434277	NM_000527.4(LDLR):c.1154T>C (p.Leu385Pro)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111607	ACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGT
41464951	30663	NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)	HBA2	Jun 12, 2017	MedGen:CN077787;MedGen:CN070765;MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001;MedGen:CN169374	Hemoglobin H disease, nondeletional;Hemoglobin constant spring;alpha Thalassemia;not specified	germline;unknown	16	173598	GTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTG
80356610	23715	NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg)	KCNJ11	Jul 05, 2011	MedGen:C4225365,OMIM:616329;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885;MedGen:C1864623,OMIM:610582	Maturity-onset diabetes of the young, type 13;Permanent neonatal diabetes mellitus;Transient neonatal diabetes mellitus 3	germline	11	17387968	AGGGCCCGCTTTGTGTCCAAGAAAGGCAACTGCAACGTGGCCCACAAGAACATCCGGGAGC
398123552	99409	NM_000402.4(G6PD):c.188T>C (p.Ile63Thr)	G6PD	Sep 06, 2012	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	germline	X	154546058	GCGATGCCTTCCATCAGTCGGATACACACATATTCATCATCATGGGTGCATCGGTGAGTAT
121434429	21750	NM_004550.4(NDUFS2):c.1237T>C (p.Ser413Pro)	NDUFS2	Mar 20, 2014	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline	1	161213673	GAACAGGGAGAGTTTGGGGTGTACCTGGTGTCTGATGGCAGCAGCCGCCCTTATCGATGCA
121964968	15163	NM_000071.2(CBS):c.1616T>C (p.Leu539Ser)	CBS	Jan 01, 1997	MedGen:CN068394	Homocystinuria, pyridoxine-responsive	germline	21	43053920	TGGTGTTCGGGGTGGTCACCGCCATTGACTTGCTGAACTTCGTGGCCGCCCAGGAGCGGGA
121909074	22397	NM_003322.5(TULP1):c.1471T>C (p.Phe491Leu)	TULP1	Feb 01, 1998	MedGen:C1838603,OMIM:600132	Retinitis pigmentosa 14	germline	6	35500005	GGCCGGGTCACCCAGGCCTCAGTCAAGAACTTCCAGATTGTCCACGCTGATGACCGTGAGT
199473156	196949	NM_198056.2(SCN5A):c.2291T>C (p.Met764Thr)	SCN5A	Nov 16, 2012	MedGen:CN517202	not provided	germline	3	38587545	AGGTCTTCACAGGGATTTTCACAGCAGAGATGACCTTCAAGATCATTGCCCTCGACCCCTA
-1	482159	NM_000199.4(SGSH):c.2T>C (p.Met1Thr)	SGSH	Jul 12, 2016	MedGen:CN517202	not provided	germline	17	80220312	CCCGATCCCGAGTCCGAGCCGCCGCCGCCATGAGCTGCCCCGTGCCCGCCTGCTGCGCGCT
797045135	205405	NM_001105.4(ACVR1):c.587T>C (p.Leu196Pro)	ACVR1	Jan 01, 2014	MedGen:C0016037,OMIM:135100,Orphanet:ORPHA337,SNOMED CT:82725007	Progressive myositis ossificans	germline	2	157774144	ATTCGTGTACATCAGGAAGTGGCTCTGGTCTTCCTTTTCTGGTACAAAGAACAGTGGCTCG
137853020	20545	NM_006899.4(IDH3B):c.395T>C (p.Leu132Pro)	IDH3B	Oct 01, 2008	MedGen:C2675496,OMIM:612572	Retinitis pigmentosa 46	germline	20	2660912	AGGGGGAGCTAGCCTCCTATGATATGCGGCTGAGGTAGGTGGTCTGGGTGGGGTGAATGGT
137853209	32850	NM_001082971.1(DDC):c.925T>C (p.Phe309Leu)	DDC	Jun 06, 2012	MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004	Deficiency of aromatic-L-amino-acid decarboxylase	germline	7	50495369	TTTAATCCCCACAAATGGCTATTGGTGAATTTTGACTGTTCTGCCATGTGGTAAGTTTCCC
869025201	204392	NM_005097.3(LGI1):c.1013T>C (p.Phe338Ser)	LGI1	Jul 07, 2015	MedGen:C1838062,OMIM:600512,Orphanet:ORPHA101046	Epilepsy, lateral temporal lobe, autosomal dominant	de novo	10	93797142	AAATCCGAAAACCCAATGACATTGAAACATTCAAGATTGAAAACAACTGGTACTTTGTTGT
267607122	31553	NM_000043.5(FAS):c.651+2T>C	FAS	Sep 30, 2004	MedGen:C1866119	Autoimmune lymphoproliferative syndrome, type 1a	germline	10	89012083	GTTCTCATGAATCTCCAACTTTAAATCCTGTAGGTATTGAAATAGGTATCAGCTTTCCTTG
193922915	17486	NM_000434.3(NEU1):c.1088T>C (p.Leu363Pro)	NEU1	Mar 01, 1997	MedGen:C0268226,OMIM:256550	Sialidosis, type II	germline	6	31859879	GTACCTCATGGCGGAAAGAGACAGTCCAGCTATGGCCAGGCCCCAGTGGCTATTCATCCCT
1060500998	404290	NM_000166.5(GJB1):c.101T>C (p.Met34Thr)	GJB1	Aug 16, 2016	MedGen:CN118851	Charcot-Marie-Tooth Neuropathy X	germline	X	71223808	GGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTG
72656353	32371	NM_000088.3(COL1A1):c.4391T>C (p.Leu1464Pro)	COL1A1	Jan 01, 1996	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	germline	17	50185506	TCGGCTTCGACGTTGGCCCTGTCTGCTTCCTGTAAACTCCCTCCATCCCAACCTGGCTCCC
267606695	32643	NM_004056.5(CA8):c.298T>C (p.Ser100Pro)	CA8	May 01, 2009	MedGen:C2750509,OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	germline	8	60266044	CGGTAACATATATTTTCTTTTTCAGTTCTTTCGGGAGGACCATTGCCTCAAGGGCATGAAT
398123250	98528	NM_000202.7(IDS):c.587T>C (p.Leu196Ser)	IDS	Sep 25, 2013	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	germline	X	149498228	TGGATGTGCTGGATGTTCCCGAGGGCACCTTGCCTGACAAACAGAGCACTGAGCAAGCCAT
104893731	20975	NM_006580.3(CLDN16):c.434T>C (p.Leu145Pro)	CLDN16	Jun 01, 2000	MedGen:C0268448,OMIM:248250,Orphanet:ORPHA31043,SNOMED CT:80710001	Primary hypomagnesemia	germline	3	190404768	TAACCATATGCCCTGGTCTTCCAGTGAAGCTGGTGGTAACTCGAGCGTTGATGATTACTGC
137852806	33423	NM_001039523.2(CHRNA1):c.901T>C (p.Phe301Leu)	CHRNA1	Apr 13, 2004	MedGen:C1837122,OMIM:608930	Congenital myasthenic syndrome 1B, fast-channel	germline	2	174750122	AGCATCTCTGTCTTACTGTCTTTGACTGTGTTCCTTCTGGTCATCGTGGAGCTGATCCCCT
879253752	243943	NM_000902.3(MME):c.1861T>C (p.Cys621Arg)	MME	Jul 06, 2016	MedGen:C4015635,OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	germline	3	155168572	TCTGCAAGTAACTTTAAGGAGCAATCCCAGTGCATGGTGTATCAGTATGGAAACTTTTCCT
1064792862	224750	NM_001257989.1(TYMP):c.398T>C (p.Leu133Pro)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50529155	ACAAGGTCAGCCTGGTCCTCGCACCTGCCCTGGCGGCATGTGGCTGCAAGGTTAGAAACCA
397507475	48840	NM_004333.4(BRAF):c.1454T>C (p.Leu485Ser)	BRAF	Oct 06, 2014	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MedGen:CN517202	Cardio-facio-cutaneous syndrome;not provided	germline	7	140778054	GCCTTTTAGGTGATGTGGCAGTGAAAATGTTGAATGTGACAGCACCTACACCTCAGCAGTT
121918275	17218	NM_022370.3(ROBO3):c.14T>C (p.Leu5Pro)	ROBO3	Jun 04, 2004	MedGen:C1846496,OMIM:607313,Orphanet:ORPHA2744	Gaze palsy, familial horizontal, with progressive scoliosis	germline	11	124865591	CCCAGCTGGGTCGAGCCATGCTGCGCTACCTGCTGAAAACGCTGCTGCAGATGAACTTGTT
1057517738	359420	NM_000404.3(GLB1):c.396+2T>C	GLB1	Apr 28, 2015	MedGen:CN517202	not provided	germline	3	33068818	GGCCCTACATCTGTGCAGAGTGGGAAATGGTGAGTGTGGCTAGACTGGGCTCTACCTGGTG
60934003	29521	NM_170707.3(LMNA):c.1589T>C (p.Leu530Pro)	LMNA	Mar 01, 1999	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005;MedGen:CN517202	Benign scapuloperoneal muscular dystrophy with cardiomyopathy;not provided	germline	1	156137213	GGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCC
876661299	236732	NM_001302946.1(TRNT1):c.609-26T>C	TRNT1	May 26, 2016	MedGen:C4310776,OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis	germline	3	3146404	TTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTT
80356586	21182	NM_194248.2(OTOF):c.1544T>C (p.Ile515Thr)	OTOF	Jul 30, 2015	MedGen:CN043167;MedGen:C1832828,OMIM:601071	Auditory neuropathy, autosomal recessive, 1;Deafness, autosomal recessive 9	germline	2	26482441	TCAACGACGTGGCCATCGGCACCCACTTCATTGACCTGCGCAAGATTTCTAATGACGGAGA
111033680	36497	NM_000155.3(GALT):c.374T>C (p.Val125Ala)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647702	CCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAAC
119485091	20073	NM_022041.3(GAN):c.1268T>C (p.Ile423Thr)	GAN	Apr 23, 2002	MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:128207002	Giant axonal neuropathy	germline	16	81365005	TCGGCTGCTATGCAGCTATGAAAAAGAAAATCTACGCCATGGGTGGAGGCTCCTACGGAAA
766020928	357627	NM_000466.2(PEX1):c.2T>C (p.Met1Thr)	PEX1	May 27, 2016	MedGen:CN168921,OMIM:601539;MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:88469006	Peroxisome biogenesis disorder 1B;Zellweger syndrome	unknown	7	92528434	GGGCGAACCCAGAGCGACGCTCCGGGACGATGTGGGGCAGCGATCGCCTGGCGGGTGCTGG
879253775	244082	NM_033116.5(NEK9):c.500T>C (p.Ile167Thr)	NEK9	Jul 12, 2016	MedGen:C0265987,OMIM:617025,Orphanet:ORPHA64754	Nevus comedonicus	somatic	14	75120534	TATTTCAGATTGTTTCAGCAGTGAGCTGCATCCATAAAGCTGGAATCCTTCATAGGTAAGA
121913570	29333	NM_000426.3(LAMA2):c.7691T>C (p.Leu2564Pro)	LAMA2	Dec 01, 2015	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008;MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy	germline;unknown	6	129481381	TCAGCACCAAGAATGAGTCCGGCATCATTCTTTTGGGAAGTGGAGGGACACCAGCACCACC
766783183	213953	NM_181534.3(KRT25):c.950T>C (p.Leu317Pro)	KRT25	Oct 01, 2015	MedGen:C4225214,OMIM:616760;MedGen:C1848435,OMIM:278150	Autosomal recessive woolly hair 3;Hypotrichosis 8	germline	17	40750961	AAACCCTGGAAATTGAACTTCAGTCTCTCCTAGCCACGGTATGAAAAGAACAATTTTTTTT
104894177	31835	NM_000281.3(PCBD1):c.244T>C (p.Cys82Arg)	PCBD1	Sep 01, 1993	MedGen:C1849700,OMIM:264070,Orphanet:ORPHA1578	Hyperphenylalaninemia, BH4-deficient, D	germline	10	70884021	CAGGTCCACATCACGCTGAGCACCCATGAGTGTGCCGGCCTTTCAGAACGGGACATAAACC
72558449	103225	NM_000531.5(OTC):c.803T>C (p.Met268Thr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408961	ATGTATTAATTACAGACACTTGGATAAGCATGGGACAAGAAGAGGAGAAGAAAAAGCGGCT
1085307277	414220	NM_001204.6(BMPR2):c.967+2T>C	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202520203	TTATCTTCACACAGAATTACCACGAGGAGGTAAGATAGTCAATAGATGAAATTGACACTCA
875989948	228216	NM_000048.3(ASL):c.1079T>C (p.Met360Thr)	ASL	May 09, 2016	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	inherited	7	66092022	ACCTGTGCCCCCAGATTCACCAAGAGAACATGGGACAGGCTCTCAGCCCCGACATGCTGGC
6068812	38635	NM_000782.4(CYP24A1):c.1226T>C (p.Leu409Ser)	CYP24A1	Nov 09, 2011	MedGen:C0268080,OMIM:143880,SNOMED CT:34225008	Idiopathic hypercalcemia of infancy	germline	20	54158096	ACAAGGCAACAGTTCTGGGTGAATATGCTTTACCCAAAGGAGTAAGTAGAATTTGTATATT
797045005	205017	NM_006009.3(TUBA1A):c.1226T>C (p.Val409Ala)	TUBA1A	May 18, 2017	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011;MedGen:CN517202	Lissencephaly 3;not provided	de novo;germline	12	49185140	ATGCCAAACGTGCCTTTGTTCACTGGTACGTTGGGGAGGGGATGGAGGAAGGTGAGTTTTC
137852914	17910	NM_001171507.2(MCFD2):c.407T>C (p.Ile136Thr)	MCFD2	Jun 01, 2003	MedGen:C3150889,OMIM:613625	Factor v and factor viii, combined deficiency of, 2	germline	2	46905497	GAGATGATGACAAGAACAATGATGGATACATTGACTATGCTGAATTTGCAAAATCACTGCA
28940274	17767	NM_004183.3(BEST1):c.253T>C (p.Tyr85His)	BEST1	Jul 01, 1998	MedGen:C0339510,OMIM:153700,Orphanet:ORPHA1243,SNOMED CT:90036004;MedGen:CN517202	Vitelliform macular dystrophy type 2;not provided	germline	11	61955723	CTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGA
63750295	426795	NM_001171.5(ABCC6):c.4271T>C (p.Ile1424Thr)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150710	GTGCCCTTCTCCGGAAGACCCAGATCCTCATCCTGGACGAGGCTACTGCTGCCGTGGACCC
1060501021	401013	NM_000138.4(FBN1):c.2722T>C (p.Cys908Arg)	FBN1	Aug 16, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48494210	AAAGGGTACTCAAGAATTAAAGGAACACAATGTGAAGGTATTTCTGATTACTTATAAACCA
281865121	49436	NM_000530.7(MPZ):c.89T>C (p.Ile30Thr)	MPZ	Mar 26, 2015	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161307403	TGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGG
387907113	40075	NM_015175.2(NBEAL2):c.1163T>C (p.Leu388Pro)	NBEAL2	Jul 17, 2011	MedGen:C0272302,OMIM:139090,SNOMED CT:51720005	Gray platelet syndrome	germline	3	46993986	ACGCCATTGCAGTCCATGTAGTCAGAGTGCTGACCTGCATCATGAGTGACTCCCCCTCGGC
864622194	222880	NM_000533.4(PLP1):c.2T>C (p.Met1Thr)	PLP1	Jul 29, 2015	MedGen:C1839264,OMIM:312920,Orphanet:ORPHA99015	Spastic paraplegia 2	germline	X	103776997	GCTACAATTGGAGTCAGAGTCCCAAAGACATGGGTAAGTTTCAAAAACTTTAGCATTGAAG
104894384	23037	NM_000192.3(TBX5):c.161T>C (p.Ile54Thr)	TBX5	Jun 05, 2000	MedGen:C0265264,OMIM:142900,SNOMED CT:19092004	Holt-Oram syndrome	germline	12	114401907	TTTTCTCCTTCTTGCAGGGCATGGAGGGAATCAAAGTGTTTCTCCATGAAAGAGAACTGTG
794726664	18713	NM_000229.1(LCAT):c.524-22T>C	LCAT	Jul 15, 1996	MedGen:C0342895,OMIM:136120,Orphanet:ORPHA79292,SNOMED CT:238092004	Fish-eye disease	germline	16	67942609	TGGGGCAGGTGCCCCAGACCCCAGCTGCCCTGACCCCTTCCACCCGCTGCAGGCCAGCAGG
201175894	485704	NM_000348.3(SRD5A2):c.271T>C (p.Tyr91His)	SRD5A2	Oct 31, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31580630	ACGGTACTTCTGGGCCTCTTCTGCCTACATTACTTCCACAGGTAGCGTTTTTCCCTTGCGG
1085307203	414135	NM_001204.6(BMPR2):c.280T>C (p.Cys94Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467551	TGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCA
104894259	419793	NM_130799.2(MEN1):c.1306T>C (p.Trp436Arg)	MEN1	Feb 22, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	64805078	GGCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCC
587777625	153722	NM_173596.2(SLC39A5):c.911T>C (p.Met304Thr)	SLC39A5	Aug 01, 2014	MedGen:C4014762,OMIM:615946	Myopia 24, autosomal dominant	germline	12	56235666	GCCTCTTCCTGCTCTTTGTGCTGGAGAACATGCTGGGGCTTTTGCGGCACCGAGGGCTCAG
387906663	38774	NM_003392.4(WNT5A):c.544T>C (p.Cys182Arg)	WNT5A	Jan 01, 2010	MedGen:C0265205,OMIM:180700,SNOMED CT:76520005	Robinow syndrome	germline	3	55474477	GACCTGCCGCGGGACTGGCTCTGGGGCGGCTGCGGCGACAACATCGACTATGGCTACCGCT
863225365	214665	NM_000038.5(APC):c.531+2T>C	APC	Apr 20, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112775739	GAATAGATAGTCTTCCTTTAACTGAAAATGTAAGTAACTTGGCAGTACAACTTATTTGAAA
121909214	22914	NM_000358.2(TGFBI):c.1619T>C (p.Phe540Ser)	TGFBI	Apr 01, 2005	MedGen:C1837974,OMIM:608471	Lattice corneal dystrophy type 3A	germline	5	136056736	CCCTCAACCGGGAAGGAGTCTACACAGTCTTTGCTCCCACAAATGAAGCCTTCCGAGCCCT
587776456	166055	NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg)	GATA1	Apr 17, 2014	MedGen:C1845837,OMIM:300367,Orphanet:ORPHA67044	GATA-1-related thrombocytopenia with dyserythropoiesis	germline	X	48794162	AGCACTACTGTGGTGGCTCCGCTCAGCTCATGAGGGCACAGAGCATGGCCTCCAGAGGAGG
137852661	24162	NM_033163.3(FGF8):c.118T>C (p.Phe40Leu)	FGF8	Aug 01, 2008	MedGen:C2675188,OMIM:612702	Kallmann syndrome 6	germline	10	101775168	CCTGCGCTGGGCAGGGAGCTCGCTTCCCTGTTCCGGGCTGGCCGGGAGCCCCAGGGTGTCT
80356596	21181	NM_194248.2(OTOF):c.3032T>C (p.Leu1011Pro)	OTOF	Apr 26, 2011	MedGen:CN043167;MedGen:C1832828,OMIM:601071	Auditory neuropathy, autosomal recessive, 1;Deafness, autosomal recessive 9	germline	2	26475453	AGACCCTGTGTCCCACCTGGGACCAGATGCTGGTGTTCGACAACCTGGAGCTCTATGGTGA
28942112	17913	NM_174936.3(PCSK9):c.646T>C (p.Phe216Leu)	PCSK9	Dec 08, 2016	MedGen:C1863551,OMIM:603776	Hypercholesterolemia, autosomal dominant, 3	germline	1	55052400	GAGAATGTGCCCGAGGAGGACGGGACCCGCTTCCACAGACAGGTAAGCACGGCCGTCTGAT
1057519439	362134	NM_018897.2(DNAH7):c.10753T>C (p.Phe3585Leu)	DNAH7	-	Human Phenotype Ontology:HP:0003808,MedGen:C0852413;Human Phenotype Ontology:HP:0002134,MedGen:C0004782;Human Phenotype Ontology:HP:0002094,MedGen:C0013404;Human Phenotype Ontology:HP:0002079,MedGen:C0344482;Human Phenotype Ontology:HP:0001250,MedGen:C0036572	Abnormal muscle tone;Abnormality of the basal ganglia;Dyspnea;Hypoplasia of the corpus callosum;Seizures	de novo	2	195787135	TTCAAGAAATTGCTTTATGGCCTGTGTTTCTTTCATGCTTTGGTACAAGAAAGACGGAAAT
28937583	21530	NM_024009.2(GJB3):c.101T>C (p.Leu34Pro)	GJB3	May 15, 2002	MedGen:C0265961,OMIM:133200,Orphanet:ORPHA317,SNOMED CT:70041004	Erythrokeratodermia variabilis	germline	1	34784863	GGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTG
-1	446664	NM_003688.3(CASK):c.2155+2T>C	CASK	Aug 23, 2017	MedGen:CN517202	not provided	germline	X	41542689	AGATAAATATTTGGCAAAGCACAATGCAGGTAGGGAAAAGCACAACTGTTACTGAGGCTGG
121434413	21686	NM_003659.3(AGPS):c.1406T>C (p.Leu469Pro)	AGPS	Jan 15, 2001	MedGen:C1838612,OMIM:600121,Orphanet:ORPHA309803	Rhizomelic chondrodysplasia punctata type 3	germline	2	177499661	ACCCAAATCAGCTAAGTGTAGCCACATTACTGTTTGAGGGGGATCGTGAGAAGGTTCTTCA
773971505	481464	NM_025243.3(SLC19A3):c.541T>C (p.Ser181Pro)	SLC19A3	Dec 11, 2017	MedGen:C1843807,OMIM:607483,Orphanet:ORPHA65284	Basal ganglia disease, biotin-responsive	inherited	2	227699174	TACCTCAACGTCATATCCTTGGCCTCTGTCTCCGTGGCTTTCCTTTTCTCACTTTTCCTAC
121918781	79478	NM_006920.5(SCN1A):c.1162T>C (p.Tyr388His)	SCN1A	Oct 31, 2017	MedGen:C1858672,OMIM:604233;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 1;not provided	germline	2	166047635	CTAATGACTCAGGACTTCTGGGAAAATCTTTATCAACTGGTGAGAACTAAAGAGCCACACT
137852255	25647	NM_000133.3(F9):c.1058T>C (p.Val353Ala)	F9	Sep 11, 2013	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561743	ACATCTTCCTCAAATTTGGATCTGGCTATGTAAGTGGCTGGGGAAGAGTCTTCCACAAAGG
63750741	94663	NM_000179.2(MSH6):c.1346T>C (p.Leu449Pro)	MSH6	May 02, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1833477,OMIM:614350;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome	germline;unknown	2	47799329	ATGCTCTTATTGGAGTCAGTGAACTGGGGCTGGTATTCATGAAAGGCAACTGGGCCCATTC
121434365	17143	NM_207118.2(GTF2H5):c.62T>C (p.Leu21Pro)	GTF2H5	Jul 01, 2004	MedGen:C1866504,OMIM:601675	Trichothiodystrophy 1, photosensitive	germline	6	158192003	ACAGTGATCCTGCCATGAAGCAGTTTCTGCTGTACTTGGATGAGTCCAATGCCCTGGGGAA
1057519441	362154	NM_004963.3(GUCY2C):c.410T>C (p.Leu137Ser)	GUCY2C	-	Human Phenotype Ontology:HP:0012440,MedGen:C4021086;Human Phenotype Ontology:HP:0001746,MedGen:C0600031;Human Phenotype Ontology:HP:0002247,MedGen:C0266174,OMIM:223400,Orphanet:ORPHA1203;Human Phenotype Ontology:HP:0006571,MedGen:C1861621	Abnormal biliary tract morphology;Asplenia;Duodenal atresia;Reduced number of intrahepatic bile ducts	de novo	12	14683243	CAACCTCTTGACATAGCCTTGACACAGAATTGAGCTACCCCATGATCTCAGCTGGAAGTTT
118203891	24589	m.5874T>C	MT-TY	Oct 24, 2000	MedGen:C4016631;MedGen:CN517202	Exercise intolerance and complex III deficiency, somatic;not provided	somatic;unknown	MT	5874	CCCCTGTCTTTAGATTTACAGTCCAATGCTTCACTCAGCCATTTTACCTCACCCCCACTGA
1085307417	414396	NM_000020.2(ACVRL1):c.1142T>C (p.Leu381Pro)	ACVRL1	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	12	51916129	GCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGA
61753033	22950	NM_000350.2(ABCA4):c.5819T>C (p.Leu1940Pro)	ABCA4	Jul 01, 2008	MedGen:C1858806,OMIM:604116;MedGen:C0271093,Orphanet:ORPHA827,SNOMED CT:70099003;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Cone-rod dystrophy 3;Stargardt disease;Stargardt disease 1;not provided	germline	1	94008767	CTGGTGGAAATAAAACTGACATCTTAAGGCTACATGAACTAACCAAGGTAAGGGAATGGGT
397515741	51427	NM_000116.4(TAZ):c.310T>C (p.Phe104Leu)	TAZ	Mar 15, 2012	MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED CT:297231002	3-Methylglutaconic aciduria type 2	germline	X	154413507	CTTAGGACCCCTGCAGCTGCAGACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCA
397514489	45888	NM_005340.6(HINT1):c.250T>C (p.Cys84Arg)	HINT1	Oct 01, 2012	MedGen:CN074193,OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	germline	5	131159578	CTTGGACACTTAATGATTGTTGGCAAGAAATGTGCTGCTGATCTGGGCCTGAATAAGGGTT
587777720	165902	NM_021870.2(FGG):c.1210T>C (p.Ser404Pro)	FGG	Apr 15, 2005	MedGen:C0472803,SNOMED CT:234458004	Hypodysfibrinogenemia	germline	4	154604986	ATTTGGGCCACTTGGAAAACCCGGTGGTATTCCATGAAGAAAACCACTATGAAGATAATCC
587784526	169079	NM_130838.1(UBE3A):c.2485T>C (p.Tyr829His)	UBE3A	Feb 08, 2013	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25339211	ACTTGCTTTAATGTGCTTTTACTTCCGGAATACTCAAGCAAAGAAAAACTTAAAGAGAGAT
794728246	197652	NM_000138.4(FBN1):c.6274T>C (p.Trp2092Arg)	FBN1	May 03, 2014	MedGen:CN517202	not provided	germline	15	48437807	GAATGCTGCTGTGCCTTGAAGGGAGAAGGCTGGGGAGACCCCTGCGAGCTCTGCCCCACGG
104893770	28058	NM_000539.3(RHO):c.133T>C (p.Phe45Leu)	RHO	Aug 01, 1991	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129528866	TGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCA
797045020	205043	NM_001081550.1(THOC2):c.3034T>C (p.Ser1012Pro)	THOC2	Aug 06, 2015	MedGen:C0796218,OMIM:300957,Orphanet:ORPHA457240	Mental retardation, X-linked 12	germline	X	123625935	TTGGTACATCAACAGAAAACTCCAAATTTTTCCACACTTCTTTGCTATGATCGAGTAAGTT
1064793730	406774	NM_002397.4(MEF2C):c.637+2T>C	MEF2C	Jun 09, 2015	MedGen:CN517202	not provided	germline	5	88749068	CCTCACGTCTGGTGCAGGCACCAGTGCAGGTAAGCCCAGACTCCATACTGCAGTATGTATC
199472918	78121	NM_000238.3(KCNH2):c.1655T>C (p.Leu552Ser)	KCNH2	Aug 09, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C3150943,OMIM:613688;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 2;not provided	germline	7	150951738	ACTCAGAGTACGGCGCGGCCGTGCTGTTCTTGCTCATGTGCACCTTTGCGCTCATCGCGCA
121909041	22231	NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro)	CFTR	Jul 10, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN185459	Cystic fibrosis;Ivacaftor response	germline;unknown	7	117642483	AGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAG
587777345	132646	NM_005861.3(STUB1):c.719T>C (p.Met240Thr)	STUB1	Apr 17, 2014	MedGen:C4014261,OMIM:615768,Orphanet:ORPHA412057	Spinocerebellar ataxia, autosomal recessive 16	germline	16	682214	ACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCAT
387907213	44125	NM_006265.2(RAD21):c.1753T>C (p.Cys585Arg)	RAD21	Jan 28, 2016	MedGen:C3553517,OMIM:614701	Cornelia de Lange syndrome 4	germline	8	116847643	GGAGCTGAATCTATCAGTTTGCTTGAGTTATGTCGAAATACGAACAGAAAACAAGCTGCCG
397515505	76420	m.14325T>C	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	14325	AAATTATTCAGCTTCCTACACTATTAAAGTTTACCACAACCACCACCCCATCATACTCTTT
121917778	27186	NM_024649.4(BBS1):c.1553T>C (p.Leu518Pro)	BBS1	Feb 01, 2003	MedGen:C2936862	Bardet-Biedl syndrome 1	germline	11	66530973	CCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTA
45517248	59239	NM_000548.4(TSC2):c.2549T>C (p.Leu850Pro)	TSC2	Jun 24, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome	germline	16	2075802	CCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTT
878853113	237458	NM_000304.3(PMP22):c.245T>C (p.Leu82Pro)	PMP22	Jun 13, 2016	MedGen:CN517202	not provided	de novo;germline	17	15239545	CGATCATCTTCAGCATTCTGTCTCTGTTCCTGTTCTTCTGCCAACTCTTCACCCTCACCAA
61145796	77488	NM_005554.3(KRT6A):c.521T>C (p.Phe174Ser)	KRT6A	Oct 01, 2005	MedGen:C3714948,OMIM:615726;MedGen:CN517202	Pachyonychia congenita 3;not provided	germline	12	52492668	GTGAACAGATCAAGACCCTCAACAACAAGTTTGCCTCCTTCATCGACAAGGTGAGCCAGTG
62636505	29072	NM_006158.4(NEFL):c.281T>C (p.Leu94Pro)	NEFL	Jul 01, 2007	MedGen:C1843225,OMIM:607684,Orphanet:ORPHA99939;MedGen:CN517202	Charcot-Marie-Tooth disease type 2E;not provided	germline	8	24956235	AGTCCATCCGCACGCAGGAGAAGGCGCAGCTCCAGGACCTCAATGACCGCTTCGCCAGCTT
397514447	24417	NM_198056.2(SCN5A):c.3963+2T>C	SCN5A	Sep 01, 1999	MedGen:C1879286,OMIM:113900	Progressive familial heart block type 1A	germline	3	38562413	GAGCTCTGTCACGATTTGAGGGCATGAGGGTAAGAGAGGTGGCTGCCTTCCCACCAGGGAG
137852707	23872	NM_000336.2(SCNN1B):c.1858T>C (p.Tyr620His)	SCNN1B	Apr 01, 1996	MedGen:C0221043,OMIM:177200,Orphanet:ORPHA526,SNOMED CT:71275003	Pseudoprimary hyperaldosteronism	germline	16	23380736	CTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACG
121908407	20234	NM_054027.4(ANKH):c.143T>C (p.Met48Thr)	ANKH	Oct 01, 2002	MedGen:C0856830,OMIM:118600	Chondrocalcinosis 2	germline	5	14769145	TTGCTGCTGTCAAGGAGGATGCAGTCGAGATGCTGGCCAGCTACGGGCTGGCGTACTCCCT
587776668	231785	NM_000314.6(PTEN):c.492+2T>C	PTEN	Nov 17, 2015	MedGen:CN517202	not provided	germline	10	87933253	ATGGGGAAGTAAGGACCAGAGACAAAAAGGTAAGTTATTTTTTGATGTTTTTCCTTTCCTC
1085307175	414104	NM_001204.6(BMPR2):c.196T>C (p.Cys66Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464928	GGGACAATATTATGCTCGAAAGGTAGCACCTGCTATGGCCTTTGGGAGAAATCAAAAGGGG
460184	33942	NM_000186.3(CFH):c.3590T>C (p.Val1197Ala)	CFH	Mar 10, 2011	MedGen:C2749604,OMIM:235400	Atypical hemolytic-uremic syndrome 1	not provided	1	196747207	AGAAGCTTTATTCGAGAACAGGTGAATCAGTTGAATTTGTGTGTAAACGGGGATATCGTCT
879253814	214550	NM_000532.4(PCCB):c.372+2T>C	PCCB	-	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136256625	ATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTC
28940297	17270	NM_000551.3(VHL):c.488T>C (p.Leu163Pro)	VHL	May 15, 2002	MedGen:C4017161	Renal cell carcinoma with paraneoplastic erythrocytosis	germline	3	10149811	TTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGA
-1	481460	NM_032861.3(SERAC1):c.91+6T>C	SERAC1	Feb 22, 2018	MedGen:C3553597,OMIM:614739,Orphanet:ORPHA352328	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	germline;inherited	6	158158267	AGTGGCACACACTGGAGAGATATCAGTGAGTACAGCTTAAACAACTCTTATTTTCTTATAG
869320741	136356	NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)	TTN	Feb 27, 2014	MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464	Hereditary myopathy with early respiratory failure	germline	2	178546051	AGAGTAACACAGGAGAAGTGCACTTTAGCCTGGAGCCTTCCGCAGGAAGACGGAGGAGCAG
121907934	18476	NM_024105.3(ALG12):c.473T>C (p.Leu158Pro)	ALG12	Oct 01, 2002	MedGen:C2931001,OMIM:607143,Orphanet:ORPHA79324,SNOMED CT:711155008	ALG12-congenital disorder of glycosylation	germline	22	49910085	CGAGCACCCTCCCGCACTGTCTTGCAGTCCTGCTGGCCCTCGCGGCCTGGCTGCGGCACGA
58901407	29618	NM_000421.3(KRT10):c.449T>C (p.Met150Thr)	KRT10	Dec 07, 2016	Human Phenotype Ontology:HP:0007475,MedGen:C0079153,OMIM:113800,Orphanet:ORPHA312,SNOMED CT:254167000;MedGen:CN517202	Bullous ichthyosiform erythroderma;not provided	germline	17	40822137	GCCTTCTCTCTGGAAATGAAAAAGTAACCATGCAGAATCTGAATGACCGCCTGGCTTCCTA
180177165	200607	NM_000030.2(AGXT):c.1151T>C (p.Leu384Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240878793	ACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACC
386134123	51222	NM_000096.3(CP):c.548T>C (p.Ile183Thr)	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149210226	ATTGTGTGACTAGGATTTACCATTCCCACATTGATGCTCCAAAAGATATTGCCTCAGGACT
-1	439190	NM_000214.2(JAG1):c.387+2T>C	JAG1	Jun 28, 2017	MedGen:CN517202	not provided	de novo	20	10672699	TCGTGCTGCCTTTCAGTTTCGCCTGGCCGGTGAGTGACTACTCGGGAAGGAGGCCGGGCGG
267608260	137057	NM_015599.2(PGM3):c.248T>C (p.Leu83Ser)	PGM3	May 01, 2014	MedGen:CN204280,Orphanet:ORPHA331223;MedGen:C4014371,OMIM:615816,Orphanet:ORPHA443811	Hyper-IgE syndrome;Immunodeficiency 23	germline	6	83188755	TAAAATTGGTTGATCCTTTGGGTGAAATGTTGGCACCATCCTGGGAGGAACATGCCACCTG
72653775	426999	NM_001171.5(ABCC6):c.1685T>C (p.Met562Thr)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16188925	CTGTCCACACTCTGGTGGCCGAGAATGCTATGAATGCAGAGAAAGCCTTTGTGACTCTCAC
794729664	185731	NM_000314.6(PTEN):c.545T>C (p.Leu182Ser)	PTEN	Mar 01, 2015	MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548	Macrocephaly/autism syndrome	germline	10	87952170	GGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGACCAGTGGC
137853196	15467	NM_178012.4(TUBB2B):c.793T>C (p.Phe265Leu)	TUBB2B	Jun 01, 2009	MedGen:C2750247,OMIM:610031	Polymicrogyria, asymmetric	germline	6	3225296	GTGAACATGGTGCCCTTCCCTCGCCTGCACTTCTTCATGCCCGGCTTCGCGCCCCTGACCA
797044881	205275	NM_000719.6(CACNA1C):c.3497T>C (p.Ile1166Thr)	CACNA1C	Sep 18, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	12	2608651	TCATGATGAACATCTTCGTGGGCTTCGTCATCGTCACCTTTCAGGAGCAGGGGGAGCAGGA
104894327	20167	NM_020661.3(AICDA):c.452T>C (p.Phe151Ser)	AICDA	Sep 01, 2000	MedGen:C1720956,OMIM:605258,Orphanet:ORPHA101089	Immunodeficiency with hyper IgM type 2	germline	12	8604898	TTGAAGATTATTTTTACTGCTGGAATACTTTTGTAGAAAACCACGAAAGAACTTTCAAAGC
75076352	28956	NM_020975.4(RET):c.1900T>C (p.Cys634Arg)	RET	Sep 28, 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: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;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 2a;Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 4;Pheochromocytoma;not provided;not specified	germline;somatic	10	43114500	CCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCT
104893802	27856	NM_003106.3(SOX2):c.290T>C (p.Leu97Pro)	SOX2	Apr 08, 2008	MedGen:C1859773,OMIM:206900,Orphanet:ORPHA77298	Microphthalmia syndromic 3	germline	3	181712650	AGCGGCCGTTCATCGACGAGGCTAAGCGGCTGCGAGCGCTGCACATGAAGGAGCACCCGGA
137852796	15447	NM_001165974.1(UROC1):c.209T>C (p.Leu70Pro)	UROC1	Jun 01, 2009	Human Phenotype Ontology:HP:0012237,MedGen:C0268514,OMIM:276880,Orphanet:ORPHA210128,SNOMED CT:60952007	Urocanate hydratase deficiency	germline	3	126510712	TGGCCCCAGAGTTTGCCCAGGAGCTGCAACTGTACGGACACATCTACATGTACCGGTTTTG
398122989	97344	NM_014495.3(ANGPTL3):c.883T>C (p.Phe295Leu)	ANGPTL3	Mar 01, 2012	MedGen:C1857970,OMIM:605019	Hypobetalipoproteinemia, familial, 2	germline	1	62602332	ATTCAACATCGAATAGATGGATCACAAAACTTCAATGAAACGTGGGAGAACTACAAATATG
1057519414	359099	NM_004544.3(NDUFA10):c.881T>C (p.Leu294Pro)	NDUFA10	Dec 02, 2016	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	2	240005219	TCAAGCAGGACAATCGCACTTTATACCACCTGCGATTACTGTAAGTGCATCTGTGTGGGGG
201293634	437700	NM_001177317.1(SLC34A3):c.304+2T>C	SLC34A3	Sep 30, 2017	MedGen:C0342645,OMIM:241530,SNOMED CT:237891005	Autosomal recessive hypophosphatemic bone disease	paternal	9	137232705	CCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGC
121909659	31283	NM_000145.3(FSHR):c.479T>C (p.Ile160Thr)	FSHR	Dec 21, 2016	MedGen:C0949595,OMIM:233300;MedGen:CN517202	Ovarian dysgenesis 1;not provided	germline	2	48989022	ACATTCAAGATAACATAAACATCCACACAATTGAAAGAAATTCTTTCGTGGGGCTGAGCTT
200143634	434288	NM_000527.4(LDLR):c.1367T>C (p.Leu456Pro)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113543	CCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGA
111723244	39692	NM_014874.3(MFN2):c.1392+2T>C	MFN2	Jun 08, 2010	MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947	Charcot-Marie-Tooth disease, type 2A2A	germline	1	12004615	CTCCAGTAGTCCTCAAGGTTTATAAGAATGTGAGTCATGGAGCAACAGGTCCTCTTGGCAG
-1	428724	NM_000162.3(GCK):c.941T>C (p.Leu314Pro)	GCK	Feb 01, 2016	MedGen:C1841962,OMIM:125851	Maturity-onset diabetes of the young,  type 2	germline	7	44146541	TTGTGCTGCTCAGGCTCGTGGACGAAAACCTGCTCTTCCACGGGGAGGCCTCCGAGCAGCT
121907936	19060	NM_000152.4(GAA):c.953T>C (p.Met318Thr)	GAA	Sep 01, 1991	MedGen:C0751173	Glycogen storage disease type II, infantile	germline	17	80107894	ACGGGGTGTTCCTGCTAAACAGCAATGCCATGGGTAAGCTGCCCGCCGCCCAGCGCCCGGG
730880130	178734	NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113644	GCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTG
387906701	38882	NM_003491.3(NAA10):c.109T>C (p.Ser37Pro)	NAA10	Jul 15, 2011	MedGen:C3275447,OMIM:300855,Orphanet:ORPHA276432	N-terminal acetyltransferase deficiency	germline	X	153934388	CAGATGAAATACTACTTCTACCATGGCCTTTCCTGGCCCCAGGTGGGCAGCTTCTGAATTT
62635656	20769	NM_201253.2(CRB1):c.3122T>C (p.Met1041Thr)	CRB1	Oct 01, 1999	MedGen:C1838647,OMIM:600105;MedGen:CN517202	Retinitis pigmentosa 12;not provided	germline	1	197434985	ATGGCACATGGCACGAAGTGACCCTTTCCATGACAGACCCACTGTCCCAGACCTCCAGGTG
137853935	34356	NM_013246.2(CLCF1):c.676T>C (p.Ter226Arg)	CLCF1	Mar 03, 2011	MedGen:C1853198,OMIM:610313	Cold-induced sweating syndrome 2	not provided	11	67365138	GTCACCCTGCACCTGGGGGCTCATGGCTTCTGACTTCTGACCTTCTCCTCTTCGCTCCCCC
1057524251	367234	NM_182943.2(PLOD2):c.1127+2T>C	PLOD2	Jan 05, 2017	MedGen:CN517202	not provided	germline	3	146086785	AGTCAAGCGGAAGCCAGAAACATGGGAATGTATGTTTTAATAAATTAAAATTAAATTAAAT
587777443	141320	NM_000414.3(HSD17B4):c.1547T>C (p.Ile516Thr)	HSD17B4	Nov 22, 2012	MedGen:C0685838,OMIM:233400,Orphanet:ORPHA2855,SNOMED CT:93466004	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	germline	5	119525259	GCCTCAGTGGAGACTGGAATCCCTTACACATTGATCCTAACTTTGCTAGTCTAGCAGGTGA
869320696	227013	NM_001903.4(CTNNA1):c.953T>C (p.Leu318Ser)	CTNNA1	Apr 08, 2016	Gene:619480,MedGen:C1837029,OMIM:608970	Macular dystrophy, patterned, 2	germline	5	138827609	GTCTGGAAAGCATCATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATGA
118203940	15918	NM_000046.3(ARSB):c.707T>C (p.Leu236Pro)	ARSB	Apr 01, 1992	MedGen:CN068453	Mucopolysaccharidosis, type vi, mild	germline	5	78955486	AACTTTCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGAGCCCCTTCA
527236118	152903	NM_206933.2(USH2A):c.9751T>C (p.Cys3251Arg)	USH2A	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	1	215799114	TATTGTCCTAAATTGACAGGTGAAGTATGCTGTCCAGATGAACAGCACAATCGGGTTTCTG
727504114	416982	NM_000314.6(PTEN):c.634+2T>C	PTEN	May 26, 2017	MedGen:CN072330,OMIM:158350	Cowden syndrome 1	germline	10	87952261	TATTCCAATGTTCAGTGGCGGAACTTGCAGTAAGTGCTTGAAATTCTCATCCTTCCATGTA
-1	441817	NM_000296.3(PKD1):c.11173T>C (p.Trp3725Arg)	PKD1	May 30, 2017	MedGen:CN517202	not provided	germline	16	2092573	TGCTGTGGCAGGTCTGAGGAGCTCTGGCCATGGATGGCCCACGTGCTGCTGCCCTACGTCC
1057519083	359138	NM_001350236.1(DCPS):c.203T>C (p.Val68Ala)	DCPS	Jul 10, 2015	MedGen:C4085595,OMIM:616459	AL-RAQAD SYNDROME	germline	11	126304283	GGGACAAAATCATTTTCCTACACGGGAAGGTACCAGGAGGCAACCCTGAGGTGGGATGCGG
776463091	426937	NM_001171.5(ABCC6):c.2387T>C (p.Ile796Thr)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16178826	ACGTTGGCCAGCATGTCTTCAACCAGGTCATTGGGCCTGGTGGACTACTCCAGGGAACAGT
397514604	48411	NM_133497.3(KCNV2):c.491T>C (p.Phe164Ser)	KCNV2	Dec 21, 2012	MedGen:C1835897,OMIM:610356,Orphanet:ORPHA209932	Retinal cone dystrophy 3B	germline	9	2718230	ACCCGGCCGTCTTCCAGCTGGTCTACAATTTCTACCTGTCCGGGGTGCTGCTGGTGCTCGA
587777713	165818	NM_014845.5(FIG4):c.50T>C (p.Leu17Pro)	FIG4	Sep 17, 2014	MedGen:C1970011,OMIM:611228,Orphanet:ORPHA139515	Charcot-Marie-Tooth disease, type 4J	germline	6	109691485	CCATCATCAGCTCGGTCCAGAAGCTGGTTCTGTATGAGACTAGAGCTGTGAGTACCCCCTC
111033846	45911	NM_000155.3(GALT):c.680T>C (p.Leu227Pro)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648449	TGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTG
121908861	21472	NM_000369.2(TSHR):c.1891T>C (p.Phe631Leu)	TSHR	Nov 01, 1997	MedGen:C1836706,OMIM:609152,Orphanet:ORPHA424;MedGen:C1863960	Hyperthyroidism, nonautoimmune;Thyroid adenoma, hyperfunctioning	germline;somatic	14	81143949	AAAATTGCCAAGAGGATGGCTGTGTTGATCTTCACCGACTTCATATGCATGGCCCCAATCT
786205231	188153	NM_004974.3(KCNA2):c.788T>C (p.Ile263Thr)	KCNA2	Apr 01, 2015	MedGen:C4225350,OMIM:616366	Epileptic encephalopathy, early infantile, 32	germline	1	110603995	ACATCATGAACATCATTGACATTGTGGCCATCATCCCCTACTTCATCACCCTGGGGACAGA
387907361	59421	NM_005120.2(MED12):c.3493T>C (p.Ser1165Pro)	MED12	Aug 11, 2016	MedGen:C3698541,OMIM:300895,Orphanet:ORPHA293707	Ohdo syndrome, X-linked	germline	X	71129131	GTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCA
59897026	77648	NM_153490.2(KRT13):c.332T>C (p.Leu111Pro)	KRT13	Nov 01, 2003	MedGen:C4014321,OMIM:615785;MedGen:CN517202	White sponge nevus 2;not provided	germline	17	41505219	CTGGCAATGAGAAGATCACCATGCAGAACCTCAACGACCGCCTGGCTTCCTACCTGGAGAA
74315328	22985	NM_000261.1(MYOC):c.1309T>C (p.Tyr437His)	MYOC	Apr 09, 1998	MedGen:C1842028,OMIM:137750	Primary open angle glaucoma juvenile onset 1	germline	1	171636131	GCCAATGCCTTCATCATCTGTGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATG
132630272	26161	NM_000377.2(WAS):c.244T>C (p.Ser82Pro)	WAS	Jul 01, 1995	MedGen:C4016481	Wiskott-Aldrich syndrome, attenuated	germline	X	48684394	GTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGG
-1	481175	NM_000660.6(TGFB1):c.1159T>C (p.Cys387Arg)	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	41331066	GAGCAGCTGTCCAACATGATCGTGCGCTCCTGCAAGTGCAGCTGAGGTCCCGCCCCGCCCC
121909519	33318	NM_001100.3(ACTA1):c.287T>C (p.Leu96Pro)	ACTA1	Oct 01, 1999	MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904	Nemaline myopathy 3	germline	1	229432723	AGATCTGGCACCACACCTTCTACAACGAGCTTCGCGTGGCTCCCGAGGAGCACCCCACCCT
118204111	16508	NM_000190.3(HMBS):c.739T>C (p.Cys247Arg)	HMBS	Dec 01, 1993	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119092491	GTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACC
-1	432132	NM_000444.5(PHEX):c.467T>C (p.Leu156Pro)	PHEX	Apr 20, 2015	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22077506	AAGCGATTGAAAAAGCAGATGCCAAGCCACTGCTACACATCCTACGGCATTCACCTTTCCG
781518112	364922	NM_020247.4(COQ8A):c.830T>C (p.Leu277Pro)	COQ8A	Aug 21, 2017	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485;MedGen:CN517202	Coenzyme Q10 deficiency, primary, 4;not provided	germline;paternal	1	226982126	TCTGCAAGGTGCGTGGTGCGGCACTCAAGCTGGGCCAGATGCTGAGCATCCAGGGTGAGTG
1085307631	415655	NM_000540.2(RYR1):c.14552T>C (p.Leu4851Pro)	RYR1	Apr 17, 2017	MedGen:CN517202	not provided	germline	19	38580410	CCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCG
776388520	76372	NM_005005.2(NDUFB9):c.191T>C (p.Leu64Pro)	NDUFB9	Feb 01, 2012	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	8	124543176	AAAAGGATATGGCGAAGGCCACCCAGCTGCTGAAGGAGGCCGAGGAAGAATTCTGGTACCG
61060395	188187	NM_002055.4(GFAP):c.218T>C (p.Met73Thr)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44915269	AGGAGACCCGGGCCAGTGAGCGGGCAGAGATGATGGAGCTCAATGACCGCTTTGCCAGCTA
104894935	24931	NM_000330.3(RS1):c.38T>C (p.Leu13Pro)	RS1	Jan 01, 1999	MedGen:C0271091,OMIM:312700,Orphanet:ORPHA792,SNOMED CT:86923008;MedGen:CN517202	Juvenile retinoschisis;not provided	germline	X	18672031	GCAAGATAGAAGGCTTTTTGTTATTACTTCTCTTTGGCTATGAAGGTATGTGCTATTCAAC
587779393	152932	NM_000257.3(MYH7):c.4937T>C (p.Leu1646Pro)	MYH7	Mar 12, 2015	MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135	Myopathy, distal, 1	germline	14	23416020	CCGCCGAGGCCCAGAAGCAAGTCAAGAGCCTCCAGAGCTTGTTGAAGGTACTCACCCAGAG
-1	446835	NM_003801.3(GPAA1):c.869T>C (p.Leu290Pro)	GPAA1	Dec 18, 2017	MedGen:CN698605,OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	germline	8	144084468	TGGATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGG
5030845	108522	NM_000277.2(PAH):c.691T>C (p.Ser231Pro)	PAH	Sep 24, 2014	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102855151	GAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAG
387906664	38777	NM_005188.3(CBL):c.1150T>C (p.Cys384Arg)	CBL	Dec 26, 2014	Human Phenotype Ontology:HP:0004377,MeSH:D019337,MedGen:C0376545,SNOMED CT:129154003;MedGen:C4016301	Hematologic neoplasm;Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	germline;somatic	11	119278220	ATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTG
797044534	178796	NM_000081.3(LYST):c.772T>C (p.Cys258Arg)	LYST	Jan 15, 2015	MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chédiak-Higashi syndrome	germline	1	235810046	AGTAACATGAACAATTCTCCATTTGACTTATGTCATGTTTTGTTATCTTTATTAGAAAAAG
267606893	24737	m.12706T>C	MT-ND5	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1838951	Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency	germline	MT	12706	ATTAATCAGTTCTTCAAATATCTACTCATCTTCCTAATTACCATACTAATCTTAGTTACCG
1057524790	377036	NM_175914.4(HNF4A):c.224+2T>C	HNF4A	Jan 23, 2017	MedGen:CN517202	not provided	germline	20	44406234	GTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAAT
62642930	15639	NM_000277.2(PAH):c.764T>C (p.Leu255Ser)	PAH	Apr 01, 1991	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102852893	TGGCTGGCCTGCTTTCCTCTCGGGATTTCTTGGGTGGCCTGGCCTTCCGAGTCTTCCACTG
201831933	94510	NM_002474.2(MYH11):c.3791T>C (p.Leu1264Pro)	MYH11	Aug 28, 2015	MedGen:C1851504,OMIM:132900;MedGen:C1851504,OMIM:132900;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Aortic aneurysm, familial thoracic 4;Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not provided	germline	16	15726915	AGAAGAAGCTGGAGGCGCAGGTGCAGGAGCTGCAGTCCAAGTGCAGCGATGGGGAGCGGGC
515726174	136311	NM_000098.2(CPT2):c.641T>C (p.Met214Thr)	CPT2	May 15, 2014	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005	Carnitine palmitoyltransferase II deficiency	germline	1	53210315	CCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAAC
121908616	21080	NM_004273.4(CHST3):c.776T>C (p.Leu259Pro)	CHST3	Oct 01, 2010	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	germline	10	72007807	ACCGCCGCTGCGGCCCCCTCAACGTGACGCTGGCCGCAGAGGCCTGCCGCCGCAAGGAGCA
104894346	20049	NM_021044.3(DHH):c.2T>C (p.Met1Thr)	DHH	Nov 01, 2000	MedGen:C2751325,OMIM:607080,Orphanet:ORPHA168563	46,XY gonadal dysgenesis, partial, with minifascicular neuropathy	germline	12	49094511	CTCCCTTTTGGCCGAGGTCCGCTGTATCCATGGCTCTCCTGACCAATCTACTGCCCCTGTG
120074155	17866	NM_017890.4(VPS13B):c.8459T>C (p.Ile2820Thr)	VPS13B	Jul 21, 2016	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005	Cohen syndrome	germline	8	99818473	ATGTGCAGGTGCCATCTTCAAACAGTTCCATTATTTATGTCTGGTGCACAGTTTTGACTTT
121909226	22865	NM_000314.6(PTEN):c.209T>C (p.Leu70Pro)	PTEN	Nov 01, 1998	MedGen:CN072330,OMIM:158350	Cowden syndrome 1	germline	10	87925557	AGCATAAAAACCATTACAAGATATACAATCTGTAAGTATGTTTTCTTATTTGTATGCTTGC
140076803	438529	NM_017807.3(OSGEP):c.328T>C (p.Cys110Arg)	OSGEP	Oct 26, 2017	MedGen:CN570505,OMIM:617729	GALLOWAY-MOWAT SYNDROME 3	germline	14	20452057	TGGAATAAGCCATTGGTGGGTGTGAACCACTGTATAGGCCACATTGAGATGGGCCGCCTCA
80356793	76553	NM_001876.3(CPT1A):c.1451T>C (p.Leu484Pro)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	not provided	11	68780647	CCTGGGCAGATGCGCCGATCGTGGCCCACCTTTGGGAGGTGAGTTTTCACACTTTTCACTT
137852964	19592	NM_153638.3(PANK2):c.1051T>C (p.Ser351Pro)	PANK2	Aug 01, 2001	MedGen:C2751506	Neurodegeneration with brain iron accumulation 1, atypical	germline	20	3910646	TGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCT
267607511	77327	NM_002055.4(GFAP):c.1076T>C (p.Leu359Pro)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911287	ACCAGGACCTGCTCAATGTCAAGCTGGCCCTGGACATCGAGATCGCCACCTACAGGAAGCT
28934611	25847	NM_033290.3(MID1):c.1877T>C (p.Leu626Pro)	MID1	Oct 12, 2000	MedGen:C0175696,OMIM:300000,SNOMED CT:81771002	Opitz-Frias syndrome	germline	X	10449495	CCTTTTATGATGCTTTGAACTCCATCCACCTCTACACCTTCGACGTCGCATTTGCGCAGCC
76645461	25441	NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	G6PD	Jan 23, 2015	na;MedGen:CN517202	G6PD AURES;not provided	germline	X	154536156	TGCCACAGGGTGACCTGGCCAAGAAGAAGATCTACCCCACCATCTGGTAAGTGTGTCCCAC
886037885	248575	NM_138348.5(OTULIN):c.815T>C (p.Leu272Pro)	OTULIN	Sep 01, 2016	MedGen:C4310614,OMIM:617099	Autoinflammation, panniculitis, and dermatosis syndrome	germline	5	14690259	CTCGGGACACATCAAATGACCCAGGACAGCTTCTGAGGAACCACCTCAACCAGGTGGGACA
-1	481594	NM_006516.2(SLC2A1):c.2T>C (p.Met1Thr)	SLC2A1	Oct 30, 2015	MedGen:CN517202	not provided	germline	1	42958650	GCAGCCAGAGCCACCAGCGCAGCGCTGCCATGGAGCCCAGCAGCAAGGTGAGTCGCGCGCC
764168489	262355	NM_004937.2(CTNS):c.544T>C (p.Trp182Arg)	CTNS	Oct 06, 2016	MedGen:CN035091,Orphanet:ORPHA213,SNOMED CT:190681003	Cystinosis	germline	17	3656569	GCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCC
199476199	47855	NM_207352.3(CYP4V2):c.1021T>C (p.Ser341Pro)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186205233	CACGATACAACTGCAGCTGCAATAAACTGGTCCTTATACCTGTTGGGTTCTAACCCAGAAG
121912587	17477	NM_001173464.1(KIF21A):c.3029T>C (p.Ile1010Thr)	KIF21A	Dec 01, 2003	MedGen:C1851102,OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	germline	12	39332236	ATGACAGTATTTCTGATTGTCAGGCCAACATAATGCAGATGGAAGAAGCAAAGGTTTGTAA
431905505	40002	NM_001006657.1(WDR35):c.781T>C (p.Trp261Arg)	WDR35	Apr 08, 2011	MedGen:C3279792,OMIM:614091	Short rib polydactyly syndrome 5	germline	2	19973664	GACACTGGCATGTACGTAGTAGGCATCCAGTGGAACCACATGGGCAGCGTGTTAGCTGTGG
151344454	79277	NM_000397.3(CYBB):c.1609T>C (p.Cys537Arg)	CYBB	Mar 30, 2017	MedGen:C1844376,OMIM:306400;MedGen:CN517202	Chronic granulomatous disease, X-linked;not provided	germline	X	37810813	CCCAAAAGTACCAGAATAGGAGTTTTCCTCTGTGGACCTGAAGCCTTGGCTGAAACCCTGA
34378160	30229	NM_000518.4(HBB):c.128T>C (p.Phe43Ser)	HBB	Apr 26, 2017	na;na;Human Phenotype Ontology:HP:0005511,MedGen:C0700299,OMIM:140700,Orphanet:ORPHA178330	HEMOGLOBIN CHIBA;HEMOGLOBIN HAMMERSMITH;Heinz body anemia	germline	11	5226764	TGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGA
104894859	25022	NM_001122606.1(LAMP2):c.961T>C (p.Trp321Arg)	LAMP2	Jun 01, 2005	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED CT:419097006	Danon disease	germline	X	120441862	TTCAGCATTGCAAATAACAATCTCAGCTACTGGGATGCCCCCCTGGGAAGTTCTTATATGT
587777335	132633	NM_005356.4(LCK):c.1022T>C (p.Leu341Pro)	LCK	Nov 01, 2012	MedGen:C4014233,OMIM:615758,Orphanet:ORPHA280142	Immunodeficiency 22	germline	1	32279728	CTTCAGGCATCAAGTTGACCATCAACAAACTCCTGGACATGGCAGCCCAAGTAAGGAGACT
1064793631	411427	NM_031407.6(HUWE1):c.12691T>C (p.Tyr4231His)	HUWE1	Jul 12, 2016	MedGen:CN517202	not provided	germline	X	53534656	AAGCAGTTGGCGGCTTTCTTAGAAGGCTTCTATGAGATCATTCCAAAGCGCCTCATTTCCA
398123045	76330	NM_001070.4(TUBG1):c.1160T>C (p.Leu387Pro)	TUBG1	Jun 01, 2013	MedGen:C3809420,OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	germline	17	42614845	TGTAACCCCTGTTTTCTGCACACCCCAAGCTCTTCGAGAGAACCTGTCGCCAGTATGACAA
137852559	24922	NM_000451.3(SHOX):c.877T>C (p.Ter293Arg)	SHOX	Sep 01, 2004	MedGen:C0265309,OMIM:127300	Leri Weill dyschondrosteosis	germline	X	644634	GCGCGGAAGCACGCGGAGGCCCTGGGGCTCTGACCCGCCGCGCAGCCCCCCGCGCGCCCGG
104893962	32022	NM_000165.4(GJA1):c.52T>C (p.Ser18Pro)	GJA1	Feb 01, 2003	MedGen:C0812437,OMIM:164200	Oculodentodigital dysplasia	germline	6	121446899	GGCAAACTCCTTGACAAGGTTCAAGCCTACTCAACTGCTGGAGGGAAGGTGTGGCTGTCAG
72549407	16255	NM_032581.3(FAM126A):c.158T>C (p.Leu53Pro)	FAM126A	Nov 16, 2010	MedGen:C1864663,OMIM:610532,SNOMED CT:702379005	Hypomyelination and Congenital Cataract	germline	7	22978444	GAATTAACATTTTGTCTTTCTTCTAGTTGCTAGAACCTGTCTGTCACCAGCTCTTTGAATT
56378716	18667	NM_000250.1(MPO):c.752T>C (p.Met251Thr)	MPO	Nov 15, 1997	MedGen:C0398595,OMIM:254600,Orphanet:ORPHA2587,SNOMED CT:129644003,SNOMED CT:234433009	Myeloperoxidase deficiency	germline	17	58279141	AGCTGACTCCGGACCAGGAGCGCTCACTCATGTTCATGCAATGGGGCCAGCTGTTGGACCA
869312964	226971	NM_001128849.1(SMARCA4):c.2348T>C (p.Leu783Pro)	SMARCA4	Jun 14, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	19	11013022	TGAACGGCATCCTGGCCGACGAGATGGGCCTGGGGAAGACCATCCAGACCATCGCGCTCAT
137853186	15583	NM_001145308.4(LRTOMT):c.313T>C (p.Trp105Arg)	LRTOMT	Nov 01, 2008	MedGen:C1969621,OMIM:611451	Deafness, autosomal recessive 63	germline	11	72106165	CCTGGTCACATCCTCACCACCCTGGACCACTGGAGCAGCCGCTGCGAGTACTTGAGCCACA
80356474	21389	NM_002977.3(SCN9A):c.2543T>C (p.Ile848Thr)	SCN9A	Aug 26, 2008	MedGen:C0014805,OMIM:133020,Orphanet:ORPHA90026,SNOMED CT:403390002	Primary erythromelalgia	germline	2	166277281	GGCCAACATTGAACATGCTGATTAAGATCATTGGTAACTCAGTAGGGGCTCTAGGTAACCT
142609245	246907	NM_001257102.1(NDUFB3):c.64T>C (p.Trp22Arg)	NDUFB3	Jul 13, 2017	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline;unknown	2	201078946	CATAAAATGGAACTTCCAGATTATAGACAATGGAAGATAGAAGGGACACCATTAGAAACTA
-1	482193	NM_001022.3(RPS19):c.411+2T>C	RPS19	Nov 27, 2017	MedGen:CN517202	not provided	germline	19	41869755	AAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCC
121908444	20537	NM_013339.3(ALG6):c.1432T>C (p.Ser478Pro)	ALG6	Jan 01, 2001	MedGen:C2930997,OMIM:603147,Orphanet:ORPHA79320	Congenital disorder of glycosylation type 1C	germline	1	63436928	GACTTGTTTTCTGTATTGGTGTGTTTTGTATCTTGCTTGAACTTCCTGTTCTTCTTGGTAT
45517183	58809	NM_000548.4(TSC2):c.1599+2T>C	TSC2	Feb 17, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome	germline	16	2064429	TCAACAGCCTGCTGGACATCATCGAGAAGGTGAGAGCCGTTGTACCCGGGGCCGGGTGCTA
-1	432131	NM_000444.5(PHEX):c.436+6T>C	PHEX	Apr 17, 2015	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22076480	CTTTATTCATCCTGCATGAATGAGAGTGAGTGATGAAGAAAACTAAATAAAATATTTACCA
-1	485723	NM_001252634.1(THRB):c.938T>C (p.Met313Thr)	THRB	Jan 27, 2010	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24127705	TCCTCCTCAAAGGCTGCTGCATGGAGATCATGTCCCTTCGCGCTGCTGTGCGCTATGACCC
515726172	132013	NM_021625.4(TRPV4):c.992T>C (p.Ile331Thr)	TRPV4	Apr 02, 2014	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Skeletal dysplasia	germline	12	109798774	GCAACACAGTGCTGCATGCGCTGGTGGCCATTGCTGACAACACCCGTGAGAACACCAAGTT
1085307450	414650	NM_002662.4(PLD1):c.2882+2T>C	PLD1	May 16, 2017	MedGen:C1859330,OMIM:212093	Cardiac valvular defect, developmental	germline	3	171612277	GCCCGAGGACTTCGGCTACAGTGCTTTAGGTCAGTCCGCCAAAGTGTGTCTCTCTGATGCA
5030830	420444	NM_000551.3(VHL):c.353T>C (p.Leu118Pro)	VHL	Feb 20, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	3	10146526	CTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCT
-1	446871	NM_001142966.2(GREB1L):c.4700T>C (p.Leu1567Pro)	GREB1L	Dec 18, 2017	MedGen:CN703737,OMIM:617805	RENAL HYPODYSPLASIA/APLASIA 3	germline	18	21508556	ACCGCAAGTACTGGCCCAACCACATCATGCTGGTGCTTCCCGGCATGTTCAATAATGCAGG
140467171	79355	NM_004990.3(MARS):c.1108T>C (p.Phe370Leu)	MARS	Jul 06, 2017	MedGen:C4225400,OMIM:615486;MedGen:CN517202	Interstitial lung and liver disease;not provided	germline	12	57500337	GCCCACCTCACCAGAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGC
386834052	16429	NM_017777.3(MKS1):c.80+2T>C	MKS1	Feb 01, 2006	MedGen:C3714506,OMIM:249000	Meckel syndrome type 1	germline	17	58219149	CGGGACCCCGTGCGCAACTTGCGCCTCCGGTAGTCGCACCGCCCCAGCCCCGAGGCCCCAT
267607516	77378	NM_002055.4(GFAP):c.302T>C (p.Leu101Pro)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915185	AACAGCAAAACAAGGCGCTGGCTGCTGAGCTGAACCAGCTGCGGGCCAAGGAGCCCACCAA
387906716	38921	NM_000377.2(WAS):c.814T>C (p.Ser272Pro)	WAS	Oct 01, 2006	MedGen:C1845987,OMIM:300299,Orphanet:ORPHA86788	Severe congenital neutropenia X-linked	germline	X	48688336	AACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCA
879254455	245445	NM_000527.4(LDLR):c.265T>C (p.Cys89Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102738	GTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCT
122455132	26675	NM_006517.4(SLC16A2):c.1190T>C (p.Leu397Pro)	SLC16A2	Jun 15, 2017	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59;Human Phenotype Ontology:HP:0001249,MedGen:C1843367	Allan-Herndon-Dudley syndrome;Intellectual disability	germline;maternal	X	74529232	TGTTTCTCCAGGTCCTTTCCTTCCTGCTCCTGGGCCTGATGTCCATGATGATTCCCCTGTG
199476124	24774	m.3949T>C	MT-ND1	Oct 01, 2004	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	germline	MT	3949	TCCGAACTAGTCTCAGGCTTCAACATCGAATACGCCGCAGGCCCCTTCGCCCTATTCTTCA
864622041	220980	NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro)	MSH6	Apr 28, 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	47805693	TCATGCATGCAACAGCACATTCTCTGGTGCTTGTGGATGAATTAGGTAAGACATTAAACTT
121909776	22807	NM_032977.3(CASP10):c.440T>C (p.Met147Thr)	CASP10	Apr 25, 2002	Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007	Neoplasm of stomach	somatic	2	201187798	TTCTGAAAGACTCGCTTCCCAAAACTGAAATGGTGAGTGGGTCATACAGAATGGGTCTGTG
121434366	17120	NM_000159.3(GCDH):c.883T>C (p.Tyr295His)	GCDH	Sep 10, 2014	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005	Glutaric aciduria, type 1	germline	19	12896940	GGTCCCTTCGGCTGCCTGAACAACGCCCGGTACGGCATCGCGTGGGGCGTGCTTGGAGCTT
875989932	228186	NM_000527.4(LDLR):c.1814T>C (p.Leu605Pro)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116967	GGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGA
587782995	166186	NM_005859.4(PURA):c.299T>C (p.Leu100Pro)	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	140114480	AGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGGCCGTGGAGTT
281865497	47599	NM_004614.4(TK2):c.644T>C (p.Leu215Pro)	TK2	Dec 06, 2012	MedGen:C3149750,OMIM:609560	Mitochondrial DNA depletion syndrome 2	not provided	16	66513786	GGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCT
104886310	36130	NM_000495.4(COL4A5):c.5032T>C (p.Cys1678Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108696352	GCAGGAGACTTGAGGACACGAATTAGCCGATGTCAAGTGTGCATGAAGAGGACATAACATT
886041743	264751	NM_004975.3(KCNB1):c.1108T>C (p.Trp370Arg)	KCNB1	May 03, 2016	MedGen:CN517202	not provided	germline	20	49374452	AAGTTCAAAAGCATCCCAGCCTCTTTCTGGTGGGCCACCATCACCATGACTACTGTTGGGT
137852347	25453	NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)	G6PD	Jul 28, 2016	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD REHOVOT	germline	X	154533029	CCCGATGGAGAGGGCGAGGCCACCAAAGGGTACCTGGACGACCCCACGGTGCCCCGCGGGT
774195387	433398	NM_001250.5(CD40):c.256+2T>C	CD40	Mar 08, 2017	MedGen:CN169374	not specified	germline	20	46122360	CTGCCACCAGCACAAATACTGCGACCCCAGTGCGTGCGCTGTTGGGAAAGGGACGCTTGGG
121918565	28214	NM_000322.4(PRPH2):c.2T>C (p.Met1Thr)	PRPH2	Jan 01, 1997	MedGen:C1842914,OMIM:608161,Orphanet:ORPHA99000;MedGen:CN517202	Macular dystrophy, vitelliform, adult-onset;not provided	germline	6	42722333	GGAAGCAACCCGGACTACACTTGGCAAGCATGGCGCTACTGAAAGTCAAGTTTGACCAGAA
63751061	15829	NM_014165.3(NDUFAF4):c.194T>C (p.Leu65Pro)	NDUFAF4	Jan 01, 2008	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	6	96896790	CTCGTAAAGATGAAAAGCTGCTGTCGTTTCTAAAAGATGTGTATGTTGATTCCAAAGATCC
121908012	18789	NM_000375.2(UROS):c.217T>C (p.Cys73Arg)	UROS	Aug 31, 2016	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	germline	10	125815061	AGCCCCAGAGCAGTGGAAGCAGCAGAGTTATGTTTGGAGCAAAACAATAAAACTGAAGGTG
387907117	40088	NM_000196.3(HSD11B2):c.1012T>C (p.Tyr338His)	HSD11B2	Apr 01, 2007	MedGen:C2936861,OMIM:218030	Apparent mineralocorticoid excess	germline	16	67436797	GCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGT
886039464	259709	NM_001165963.1(SCN1A):c.707T>C (p.Ile236Thr)	SCN1A	Jul 29, 2016	MedGen:CN517202	not provided	germline	2	166051976	TAGACTTCTTTCTTTCAGGCCTGAAAACCATTGTGGGAGCCCTGATCCAGTCTGTGAAGAA
1064792866	224757	NM_001257989.1(TYMP):c.530T>C (p.Leu177Pro)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50527704	AGGGGATGTCTGACCAGATGCAAGTGCTGCTGGACCAGGCGGGCTGCTGTATCGTGGGTCA
387907272	45735	NM_001172567.1(MYD88):c.818T>C (p.Leu273Pro)	MYD88	May 31, 2016	Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,SNOMED CT:277473004,SNOMED CT:51092000;Human Phenotype Ontology:HP:0002665,MeSH:D008223,MedGen:C0024299,Orphanet:ORPHA223735;MedGen:CN143715;Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005	Chronic lymphocytic leukemia;Lymphoma;Macroglobulinemia, waldenstrom, somatic;Malignant lymphoma, non-Hodgkin;Multiple myeloma	somatic	3	38141150	CTTGGCTTGCAGGTGCCCATCAGAAGCGACTGATCCCCATCAAGTACAAGGCAATGAAGAA
886041860	265109	NM_172107.3(KCNQ2):c.1637T>C (p.Met546Thr)	KCNQ2	Aug 16, 2016	MedGen:CN517202	not provided	germline	20	63413576	CACAGCCCCACCCACCCCCCTGCAGTGTCATGCGGTTCCTGGTGTCCAAGCGGAAGTTCAA
1010907740	446829	NM_003801.3(GPAA1):c.872T>C (p.Leu291Pro)	GPAA1	Dec 15, 2017	MedGen:CN698605,OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	germline	8	144084471	ATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGGCCG
387906781	39089	NM_053025.3(MYLK):c.5275T>C (p.Ser1759Pro)	MYLK	Nov 12, 2010	MedGen:C3151077,OMIM:613780	Aortic aneurysm, familial thoracic 7	germline	3	123620300	GGCAATGCTGTGAGAGCCATTGGAAGACTGTCCTCTATGGCAATGATCTCAGGGCTCAGTG
121965006	15273	NM_000398.6(CYB5R3):c.382T>C (p.Ser128Pro)	CYB5R3	May 01, 2008	MedGen:C2749560	Methemoglobinemia type 2	germline	22	42628233	CATCCCAAGTTTCCCGCTGGAGGGAAGATGTCTCAGTACCTGGAGAGCATGCAGATTGGAG
121913272	40610	NM_006218.3(PIK3CA):c.1258T>C (p.Cys420Arg)	PIK3CA	May 31, 2016	MedGen:C0007112;MedGen:C0278701;MeSH:D003528,MedGen:C0010606;MeSH:D015179,MedGen:CN236642;MedGen:C2752042,OMIM:612918,Orphanet:ORPHA140944;MedGen:C0153574,Orphanet:ORPHA213569;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;MedGen:CN233161;Human Phenotype Ontology:HP:0030359,MedGen:C0149782	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Adenoid cystic carcinoma;Colorectal Neoplasms;Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi;Malignant neoplasm of body of uterus;Neoplasm of ovary;Neoplasm of the breast;PIK3CA related overgrowth spectrum;Squamous cell carcinoma of lung	somatic	3	179210192	GAATATTTTTCTTTGTTTTTTAAGGAACACTGTCCATTGGCATGGGGAAATATAAACTTGT
63750608	426816	NM_001171.5(ABCC6):c.4025T>C (p.Ile1342Thr)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154889	ACGTGGGGCTGCACACACTGCGCTCCAGGATCAGCATCATCCCCCAGGTGAGGCTGGTGGA
886037737	178822	NM_018947.5(CYCS):c.145T>C (p.Tyr49His)	CYCS	Feb 01, 2014	MedGen:C2677608,OMIM:612004	Thrombocytopenia 4	germline	7	25123975	CGGAAGACAGGTCAGGCCCCTGGATACTCTTACACAGCCGCCAATAAGAACAAAGGTAAGA
137852911	17940	NM_000419.4(ITGA2B):c.641T>C (p.Leu214Pro)	ITGA2B	Mar 01, 1998	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	44385193	GACTTCCCTTCCAGGCCGGAGAGCTGGTGCTTGGGGCTCCTGGCGGCTATTATTTCTTAGG
111033611	27571	NM_000660.6(TGFB1):c.241T>C (p.Tyr81His)	TGFB1	Mar 05, 2015	Human Phenotype Ontology:HP:0100252,MedGen:C0011989,OMIM:131300,SNOMED CT:34643004	Diaphyseal dysplasia	germline	19	41352804	GGCCCGCTGCCCGAGGCCGTGCTCGCCCTGTACAACAGCACCCGCGACCGGGTGGCCGGGG
118203396	20144	NM_000368.4(TSC1):c.539T>C (p.Leu180Pro)	TSC1	Mar 01, 2009	MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 1;Tuberous sclerosis syndrome	germline	9	132921943	GCCACGTGGCGGAAGTCTATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCG
786205901	190096	NM_004736.3(XPR1):c.434T>C (p.Leu145Pro)	XPR1	Jun 01, 2015	MedGen:C4225335,OMIM:616413	Basal ganglia calcification, idiopathic, 6	germline	1	180803598	TCAGTGAGTTCTACCTCAGTCTAATCCTGCTGCAGAACTATCAGGTACTTAGATTCTTACC
119450945	17507	NM_000026.3(ADSL):c.674T>C (p.Met225Thr)	ADSL	Jan 01, 2009	MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008	Adenylosuccinate lyase deficiency	germline	22	40359279	TTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTA
72653774	427001	NM_001171.5(ABCC6):c.1652T>C (p.Phe551Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16188958	CCCCCACCCCCCAGGTCGCACTGGTGGTGTTTGCTGTCCACACTCTGGTGGCCGAGAATGC
121909253	23105	NM_005570.3(LMAN1):c.2T>C (p.Met1Thr)	LMAN1	Jun 15, 2008	MedGen:C1856883,OMIM:227300,Orphanet:ORPHA35909	Combined deficiency of factor V and factor VIII, 1	germline	18	59359243	CCGCCCTCCTCCGCGTTCCAGAATCCAAGATGGCGGGATCCAGGCAAAGGGGTCTCCGGGC
137854494	24522	NM_005502.3(ABCA1):c.4429T>C (p.Cys1477Arg)	ABCA1	Aug 01, 1999	MedGen:C0039292,OMIM:205400,Orphanet:ORPHA31150	Tangier disease	germline	9	104806276	AGCGACAAAATCAAGAAGATGCTGCCTGTGTGTCCCCCAGGGGCAGGGGGGCTGCCTCCTC
76262710	28968	NM_020630.4(RET):c.1852T>C (p.Cys618Arg)	RET	May 13, 2016	MedGen:C1833921,OMIM:155240,Orphanet:ORPHA99361;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	Familial medullary thyroid carcinoma;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	43113648	ACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTG
886037740	178840	NM_207346.2(TSEN54):c.468+2T>C	TSEN54	Jun 01, 2011	MedGen:C1857762,OMIM:610204,Orphanet:ORPHA166068	Pontocerebellar hypoplasia type 5	germline	17	75517657	ACCACACTGTGACCTTCCTGCAGTACCAGGTATCTGCCACCACCCCGCCTCCGGGAGCCAC
121918516	28288	NM_002739.4(PRKCG):c.1927T>C (p.Phe643Leu)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	germline	19	53906728	CTCCCACAGTGTGGCCGCAGCGGCGAGAACTTTGACAAGTTCTTCACGCGGGCGGCGCCAG
397515802	51521	NM_000138.4(FBN1):c.4222T>C (p.Cys1408Arg)	FBN1	Oct 06, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48472665	TGTTTCTTTCTGGCTGTAGACCTTGATGAGTGCTCTGAGAACCTGAATCTCTGTGGCAATG
387907034	39821	NM_022489.3(INF2):c.310T>C (p.Cys104Arg)	INF2	Dec 22, 2011	MedGen:C3280845,OMIM:614455,Orphanet:ORPHA93114	Charcot-Marie-Tooth disease, dominant intermediate E	germline	14	104701675	GACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGG
137853225	30954	NM_006121.3(KRT1):c.1424T>C (p.Leu475Pro)	KRT1	Oct 01, 2002	Human Phenotype Ontology:HP:0007475,MedGen:C0079153,OMIM:113800,Orphanet:ORPHA312,SNOMED CT:254167000	Bullous ichthyosiform erythroderma	germline	12	52676326	ACCAGGAGCTGATGAACACAAAGCTGGCCCTGGATCTGGAGATTGCCACCTACAGGACCCT
879254769	245941	NM_000527.4(LDLR):c.1054T>C (p.Cys352Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11110765	GACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCC
397514384	36377	NM_000060.4(BTD):c.764T>C (p.Ile255Thr)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644620	GCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTACAAGGTGAAGCA
121434486	23117	NM_000430.3(PAFAH1B1):c.92T>C (p.Phe31Ser)	PAFAH1B1	Aug 14, 2001	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2665431	CAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGGTATG
121909732	31162	NM_005271.4(GLUD1):c.1501T>C (p.Ser501Pro)	GLUD1	Dec 01, 1998	MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878	Hyperinsulinism-hyperammonemia syndrome	germline	10	87053398	AACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGG
28940586	17408	NM_213653.3(HJV):c.238T>C (p.Cys80Arg)	HJV	Oct 01, 2004	MedGen:C1865614,OMIM:602390	Hemochromatosis type 2A	germline	1	146019594	CGGGGTGGAGGGGTGGGCTCTGGCGGCCTCTGTCGAGCCCTCCGCTCCTATGCGCTCTGCA
377767404	36249	NM_020630.4(RET):c.1888T>C (p.Cys630Arg)	RET	May 13, 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	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	somatic	10	43114488	CTCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAG
5030844	108478	NM_000277.2(PAH):c.581T>C (p.Leu194Pro)	PAH	May 05, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102855261	AGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTA
587777129	106522	NM_004826.3(ECEL1):c.2278T>C (p.Cys760Arg)	ECEL1	Feb 18, 2014	MedGen:C3554415,OMIM:615065,Orphanet:ORPHA329457	Arthrogryposis, distal, type 5d	germline	2	232480203	CAGTTTGAGGAGTTTGGCCGGGCTTTCCACTGTCCCAAGGACTCACCCATGAACCCTGCCC
786205217	188060	NM_001199.3(BMP1):c.*241T>C	BMP1	Jan 15, 2015	MedGen:C3553887,OMIM:614856	Osteogenesis imperfecta, type xiii	germline	8	22201444	ATGGTGTCTGTGACATTTCCTGTTGTGAAGTAAAAGAGGGACCCCTGCGTCCTGCTCCTTT
68018207	21462	NM_003060.3(SLC22A5):c.1051T>C (p.Trp351Arg)	SLC22A5	Dec 04, 2012	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004	Renal carnitine transport defect	germline	5	132389020	CGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTC
267606783	31712	NM_000118.3(ENG):c.2T>C (p.Met1Thr)	ENG	Jan 01, 1998	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004	Osler hemorrhagic telangiectasia syndrome	germline	9	127854354	CCCAGCGCACAGGCCCCCACGTGGACAGCATGGACCGCGGCACGCTCCCTCTGGCTGTTGC
104893725	20969	NM_006580.3(CLDN16):c.500T>C (p.Leu167Pro)	CLDN16	Jul 02, 1999	MedGen:C0268448,OMIM:248250,Orphanet:ORPHA31043,SNOMED CT:80710001	Primary hypomagnesemia	germline	3	190404834	TTCTAGCTGGGTTTGGATTTCTCACCCTGCTCCTTGGTCTTGACTGCGTGAAATTCCTCCC
104893711	23387	NM_000388.3(CASR):c.2362T>C (p.Phe788Leu)	CASR	Aug 01, 2003	MedGen:C0342345,OMIM:601198	Hypocalcemia, autosomal dominant 1	germline	3	122284316	GGCTACACCTGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGC
312262799	49685	NM_024408.3(NOTCH2):c.1438T>C (p.Cys480Arg)	NOTCH2	Feb 28, 2013	MedGen:C1857761,OMIM:610205,Orphanet:ORPHA261629	Alagille syndrome 2	not provided	1	119967448	ACCTGTCTGGATAAGATTGGAGGCTTCACATGTCTGTGCATGCCAGGTAAATGGGCCCATC
1085307411	414390	NM_000020.2(ACVRL1):c.854T>C (p.Leu285Pro)	ACVRL1	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	12	51915306	TCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGA
730880849	179684	NM_000257.3(MYH7):c.730T>C (p.Phe244Leu)	MYH7	Aug 21, 2013	MedGen:CN517202	not provided	germline	14	23431587	AAGACCGTCCGGAACGACAACTCCTCCCGCTTCGTGAGTGGTCCCTGACCTTGGCCTTGGG
587779530	106978	NM_000090.3(COL3A1):c.1761+2T>C (p.Gly555_Asp587del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188996498	TGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAATA
199474792	15373	NM_001042492.2(NF1):c.5858T>C (p.Leu1953Pro)	NF1	Apr 03, 2013	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31334883	ACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAA
111033715	18655	NM_000155.3(GALT):c.512T>C (p.Phe171Ser)	GALT	Jun 29, 2017	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline;unknown	9	34648119	CAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTC
137854487	190044	NM_212482.2(FN1):c.5921T>C (p.Leu1974Pro)	FN1	-	MedGen:C1866075,OMIM:601894	Glomerulopathy with fibronectin deposits 2	inherited	2	215375685	TACAACCAGGCACTGACTACAAGATCTACCTGTACACCTTGAATGACAATGCTCGGAGCTC
1060499790	389238	NM_022124.5(CDH23):c.8204T>C (p.Leu2735Pro)	CDH23	Jun 04, 2016	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71807302	TGCAGAAAGGCAGCCCCCAGTACCAGCTGCTGACAGTGCCTGAGCACTCACCACGCGGCAC
1057521801	375756	NM_000199.3(SGSH):c.673T>C (p.Phe225Leu)	SGSH	Apr 26, 2017	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-A;not provided	germline;maternal	17	80213876	GCTCCCCACCGCCTGCCCCAGGTGCCTTACTTCGTCCCCAACACCCCGGCAGCCCGAGCCG
121908451	20890	NM_022336.3(EDAR):c.259T>C (p.Cys87Arg)	EDAR	Aug 01, 1999	MedGen:C0406702,OMIM:224900,Orphanet:ORPHA248,SNOMED CT:27025001	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	germline	2	108929295	GAGAAGTTTTCCAAAGGAGGCTACCAGATATGCAGGCGTCACAAAGACTGTGAGGGCTTCT
-1	443823	NM_001130105.1(COL4A3BP):c.778T>C (p.Ser260Pro)	COL4A3BP	Sep 20, 2017	MedGen:CN517202	not provided	germline	5	75426433	GGATCTGAATCCAGCTTGCGTCGACATGGCTCAATGGTGTCCCTGGTGTCTGGAGCAAGTG
-1	439894	NM_194248.2(OTOF):c.5992T>C (p.Ter1998Arg)	OTOF	Jul 01, 2017	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	germline	2	26460027	GGCTACCTGGTCAAGAAAATCCTCGGGGCCTGAGCCCAGTGGCCTCCTGGGTCTGATATTT
863223570	209760	NM_001999.3(FBN2):c.3724+2T>C	FBN2	Nov 01, 2013	MedGen:CN517202	not provided	germline	5	128335986	GGCTACGCCAGACCGCCAGGGCTGTACAGGTAAGGGGAGACCAAGCAGGCCTGAAACTCAT
-1	432015	NM_020686.5(ABAT):c.1460T>C (p.Leu487Pro)	ABAT	Sep 12, 2017	MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007	Gamma-aminobutyric acid transaminase deficiency	germline	16	8781387	CGCTGGTCTTCAGGGATCACCACGCTCACCTGTTCCTCAATATTTTCAGTGACATCTTAGC
281864925	46931	NM_004211.4(SLC6A5):c.1444T>C (p.Trp482Arg)	SLC6A5	Oct 04, 2012	MedGen:C3553288,OMIM:614618	Hyperekplexia 3	not provided	11	20628028	ACTCAGATTTTCTTCTCTTTATCTGCTGCATGGGGAGGCCTGATCACTCTCTCTTCTTACA
879254831	246045	NM_000527.4(LDLR):c.1207T>C (p.Phe403Leu)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113298	GGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGA
587776972	59643	NM_020458.3(TTC7A):c.2468T>C (p.Leu823Pro)	TTC7A	Aug 18, 2016	MedGen:C0220744,OMIM:243150,Orphanet:ORPHA436252,SNOMED CT:95472001;MedGen:CN517202	Multiple gastrointestinal atresias;not provided	germline	2	47073814	ACGAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGT
1064644	33924	NM_000157.3(GBA):c.703T>C (p.Ser235Pro)	GBA	Jun 19, 2017	MedGen:C0017205,Orphanet:ORPHA355	Gaucher disease	germline	1	155238192	AAGACCAATGGAGCGGTGAATGGGAAGGGGTCACTCAAGGGACAGCCCGGAGACATCTACC
58008462	77331	NM_002055.4(GFAP):c.1096T>C (p.Tyr366His)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911267	AAGCTGGCCCTGGACATCGAGATCGCCACCTACAGGAAGCTGCTAGAGGGCGAGGAGAACC
121918481	28346	NM_000506.3(F2):c.1139T>C (p.Met380Thr)	F2	Nov 01, 1992	MedGen:C0272317,SNOMED CT:33297000	Hereditary factor II deficiency disease	germline	11	46728004	TGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCT
587777440	139884	NM_001159287.1(TPI1):c.833T>C (p.Phe278Ser)	TPI1	Aug 01, 2010	MedGen:C1860808,OMIM:615512,Orphanet:ORPHA868	Triosephosphate isomerase deficiency	germline	12	6870355	TTGTGGGTGGTGCTTCCCTCAAGCCCGAATTCGTGGACATCATCAATGCCAAACAATGAGC
-1	442175	NM_000435.2(NOTCH3):c.349T>C (p.Cys117Arg)	NOTCH3	Dec 15, 2015	MedGen:CN517202	not provided	germline	19	15192290	CACCCTGTCCTGGTCCCTCCAGGCCCTGACTGCTCCCTGCCAGATCCCTGCCTCAGCAGCC
104894691	19271	NM_024301.4(FKRP):c.899T>C (p.Val300Ala)	FKRP	Dec 01, 2003	MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	germline	19	46756349	ACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGA
386829069	48652	m.9191T>C	MT-ATP6	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	germline	MT	9191	ACGTTTTCACACTTCTAGTAAGCCTCTACCTGCACGACAACACATAATGACCCACCAATCA
-1	442190	NM_000435.2(NOTCH3):c.145T>C (p.Cys49Arg)	NOTCH3	Nov 10, 2016	MedGen:CN517202	not provided	germline	19	15197552	ACAGCCCCCCCTTGCCTGGACGGAAGCCCGTGTGCAAATGGAGGTCGTTGCACCCAGCTGC
148755083	48518	NM_012275.2(IL36RN):c.115+6T>C	IL36RN	Nov 01, 2013	MedGen:C0343055,OMIM:614204,Orphanet:ORPHA247353	Pustular psoriasis, generalized	germline	2	113060943	CTGCATGCAGGGAAGGTCATTAAAGGTTGGTGATGAAACATGACCCACTTTCCTTGGTCTC
180177293	200579	NM_000030.2(AGXT):c.893T>C (p.Leu298Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240877583	GGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCA
121918757	79553	NM_006920.4(SCN1A):c.5389T>C (p.Phe1797Leu)	SCN1A	Jan 04, 2017	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	germline	2	165991853	GAGCCTCTGAGTGAGGATGACTTTGAGATGTTCTATGAGGTTTGGGAGAAGTTTGATCCCG
-1	434201	NM_000527.4(LDLR):c.248T>C (p.Ile83Thr)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102721	TCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGT
199476127	24704	m.6721T>C	MT-CO1	Dec 15, 1997	MedGen:C4016601	Sideroblastic anemia, acquired idiopathic	germline	MT	6721	GAAAAAAAGAACCATTTGGATACATAGGTATGGTCTGAGCTATGATATCAATTGGCTTCCT
104894866	25850	NM_033290.3(MID1):c.884T>C (p.Leu295Pro)	MID1	Jan 01, 2005	MedGen:C0175696,OMIM:300000,SNOMED CT:81771002	Opitz-Frias syndrome	germline	X	10482609	TTTTGTTCAAGGTGATGAGGCTTCGCAAACTGGCTCAGCAGATTGCAAACTGCAAACAGTG
587779532	106981	NM_000090.3(COL3A1):c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189005463	TACAGCTGGTGAACCTGGAAGAGATGTGAGTAGCAGTTTTTATTCAACCAGCCAGGTAGAA
-1	425569	NM_000094.3(COL7A1):c.2710+2T>C	COL7A1	Jun 29, 2016	MedGen:CN517202	not provided	germline	3	48588280	GGGCTTCCTTCTGCACTGGCAACCTGAGGGTGAGAGGTGTCCCCAGGAGGAAGTTAGGGAC
104894393	23154	NM_175929.2(FGF14):c.449T>C (p.Phe150Ser)	FGF14	Jan 01, 2003	MedGen:C1836383,OMIM:609307,Orphanet:ORPHA98764	Spinocerebellar ataxia 27	germline	13	101726785	CACAGGAACTTTTTACCCCTGAATGCAAGTTTAAAGAATCTGTTTTTGAAAATTATTATGT
869025594	224828	NM_002764.3(PRPS1):c.46T>C (p.Ser16Pro)	PRPS1	Sep 23, 2016	MedGen:C1839566,OMIM:311070,Orphanet:ORPHA99014	Charcot-Marie-Tooth disease, X-linked recessive, type 5	germline	X	107628674	ATCTTCAGCGGCAGCTCCCACCAGGACTTATCTCAGAAAATTGCTGACCGCCTGGGCCTGG
869320655	227104	NM_052845.3(MMAB):c.2T>C (p.Met1Thr)	MMAB	Aug 08, 2015	MedGen:C1855102,OMIM:251110,Orphanet:ORPHA79311	Methylmalonic aciduria cblB type	germline	12	109573479	GGGTCAGGTCCCGTCAAGCAGCCTGGCTCATGGCTGTGTGCGGCCTGGGGAGCCGTCTTGG
59568967	77377	NM_002055.4(GFAP):c.290T>C (p.Leu97Pro)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915197	TTCGCTTCCTGGAACAGCAAAACAAGGCGCTGGCTGCTGAGCTGAACCAGCTGCGGGCCAA
1057518872	360871	NM_000165.4(GJA1):c.440T>C (p.Met147Thr)	GJA1	Jul 02, 2014	Human Phenotype Ontology:HP:0000463,MedGen:C1840077;Human Phenotype Ontology:HP:0007633,MedGen:C1843496;Human Phenotype Ontology:HP:0010554,MedGen:C4021254;Human Phenotype Ontology:HP:0001249,MedGen:C1843367	Anteverted nares;Bilateral microphthalmos;Cutaneous finger syndactyly;Intellectual disability	unknown	6	121447287	ACGGTATTGAAGAGCATGGTAAGGTGAAAATGCGAGGGGGGTTGCTGCGAACCTACATCAT
104894826	25490	NM_000166.5(GJB1):c.407T>C (p.Val136Ala)	GJB1	Apr 15, 2010	MedGen:C0011195,OMIM:145900,Orphanet:ORPHA64748,SNOMED CT:111499002;MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	Dejerine-Sottas disease;X-linked hereditary motor and sensory neuropathy	germline	X	71224114	ACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGA
397514537	48172	NM_152692.4(C1GALT1C1):c.577T>C (p.Ser193Pro)	C1GALT1C1	Aug 01, 2008	MedGen:C0272137,OMIM:300622,SNOMED CT:40387008	Polyagglutinable erythrocyte syndrome	somatic	X	120626590	ATGGAAGGAGGAATTGTCTTAAGTGTAGAATCAATGAAAAGACTTAACAGCCTTCTCAATA
28933698	24262	NM_000435.2(NOTCH3):c.1363T>C (p.Cys455Arg)	NOTCH3	May 25, 2017	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003;MedGen:CN517202	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not provided	germline	19	15189004	ACGTGCCTCGACCGCATAGGCCAGTTCACCTGTATCTGTATGGCAGGTGGGTGGTGGGCGT
879254635	245722	NM_000527.4(LDLR):c.676T>C (p.Ser226Pro)	LDLR	Nov 05, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11105582	TGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGG
-1	438513	NM_006014.4(LAGE3):c.410T>C (p.Phe137Ser)	LAGE3	Oct 25, 2017	MedGen:CN570502,OMIM:301006	GALLOWAY-MOWAT SYNDROME 2, X-LINKED	germline	X	154477966	TTTCCCTGGTGGTGCGGACCATGCAGCGCTTTGGGCCCCCCGTTTCCCGCTAAGCCTGGCC
-1	481524	NM_052873.2(IFT43):c.535T>C (p.Trp179Arg)	IFT43	Feb 05, 2018	MedGen:CN795020,OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY	germline	14	76083470	CGAAACCCTTCTTGGCAGGATGATGTCGGCTGGGACTGGGACCATCTGTTCACTGAGGTGT
201893408	16422	NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67	Jul 31, 2017	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C1853153,OMIM:610688;MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005;MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008;MedGen:C3150796,OMIM:613550;Human Phenotype Ontology:HP:0001562,MedGen:C0079924;Human Phenotype Ontology:HP:0000107,MedGen:C0022679;MedGen:CN239423;MedGen:CN517202	Joubert syndrome;Joubert syndrome;Joubert syndrome 6;Meckel-Gruber syndrome;Nephronophthisis;Nephronophthisis 11;Oligohydramnios;Renal cyst;TMEM67-Related Disorders;not provided	germline;unknown	8	93795970	CAGGAAGAACGTTTTGTCACTTATGTTGGATGTGCCTTTGCTCTGAAGGTAAGTTTTAAAG
63750567	22847	NM_003999.2(OSMR):c.2072T>C (p.Ile691Thr)	OSMR	Jan 01, 2008	MedGen:C0268398,OMIM:105250	Primary localized cutaneous amyloidosis 1	germline	5	38925231	CAGATGGTTCAGAATGTTGCAAATACAAAATTGACAACCCGGAAGAAAAGGCATTGATTGT
1057519333	362065	NM_003995.3(NPR2):c.2302T>C (p.Cys768Arg)	NPR2	Sep 21, 2016	MedGen:C1864356,OMIM:602875,Orphanet:ORPHA40	Acromesomelic dysplasia Maroteaux type	inherited	9	35806163	AATGAAGAGCTAGTTTTGCTGATGGAGCGATGTTGGGCTCAGGACCCAGCTGAGCGGCCAG
864622771	222903	NM_000202.7(IDS):c.1016T>C (p.Leu339Pro)	IDS	Aug 07, 2010	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	maternal	X	149487089	TCTGTGCTTTTTATGAACTAGGGTGGGCTCTAGGTGAACATGGAGAATGGGCCAAATACAG
786204034	185761	NM_005957.4(MTHFR):c.1793T>C (p.Leu598Pro)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11790858	TTGCCCTGTGGATTGAGCGGTGGGGAAAGCTGTATGAGGAGGAGTCCCCGTCCCGCACCAT
606231289	167476	NM_001302946.1(TRNT1):c.497T>C (p.Leu166Ser)	TRNT1	Nov 12, 2014	MedGen:C4015172,OMIM:616084,Orphanet:ORPHA369861	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	germline	3	3144599	TTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTT
119487098	20242	NM_016373.3(WWOX):c.872T>C (p.Leu291Pro)	WWOX	Apr 15, 2002	MedGen:C4016881	Esophageal squamous cell carcinoma, somatic	somatic	16	78432568	CTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACAT
397514382	36374	NM_000060.4(BTD):c.743T>C (p.Ile248Thr)	BTD	Oct 29, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN169374	Biotinidase deficiency;not specified	germline	3	15644599	GCAGGTTTGGCATCTTCACATGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCT
121908000	18904	NM_000053.3(ATP7B):c.2123T>C (p.Leu708Pro)	ATP7B	Feb 07, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN169374	Wilson disease;not specified	germline	13	51958543	TGGCAGCCTTCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTTCAGGC
12931472	426990	NM_001171.5(ABCC6):c.1841T>C (p.Val614Ala)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16187150	TCCTCTGCCTGGAAGAAGTTGACCCTGGTGTCGTAGACTCAAGTTCCTCTGGAAGCGGTGA
67470842	377108	NM_001171.5(ABCC6):c.2018T>C (p.Leu673Pro)	ABCC6	Jun 30, 2015	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16182856	GTCCAGTGGGGGCAGGGAAGTCCTCCCTGCTGTCCGCCCTCCTTGGGGAGCTGTCAAAGGT
864321627	216916	NM_004606.4(TAF1):c.4010T>C (p.Ile1337Thr)	TAF1	Dec 03, 2015	MedGen:C4225418,OMIM:300966	Mental retardation, X-linked, syndromic 33	germline	X	71401691	CAGTCATTCATAATGATAATGAAGAACTTATCAAGGTTGAAGGGACCAAAATTGTCTTGGG
137853015	20627	NM_001001486.1(ATP2C1):c.1751T>C (p.Leu584Pro)	ATP2C1	Mar 01, 2002	MedGen:C0085106,OMIM:169600,Orphanet:ORPHA2841,SNOMED CT:79468000	Familial benign pemphigus	germline	3	130980591	TTTCTCTCTCATTTGCTTTAGCCAGTCGTCTGGGATTGTATTCCAAAACTTCCCAGTCAGT
770842374	470802	NM_001849.3(COL6A2):c.115+2T>C	COL6A2	May 27, 2017	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	21	46111593	CACTACCGAGAGAAACAACAACTGCCCAGGTGCCAGGGGTCGGGGGCCGGGGGCTCTGGGC
28928899	29635	NM_000422.2(KRT17):c.284T>C (p.Leu95Pro)	KRT17	May 14, 2015	MedGen:C1721007,OMIM:167210;MedGen:CN517202	Pachyonychia congenita 2;not provided	germline	17	41624226	AGGCCACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGCCCT
387906381	22304	NM_005603.4(ATP8B1):c.2097+2T>C	ATP8B1	Mar 01, 1998	MedGen:C0268312,OMIM:211600,Orphanet:ORPHA172,SNOMED CT:74162007	Progressive intrahepatic cholestasis	germline	18	57669316	TATATGAGGAGATTGAAAAAGACTTAATTGTGAGTTTTAGCCTTAATAACTTTTTCTTTGA
397516903	179102	NM_004333.4(BRAF):c.739T>C (p.Phe247Leu)	BRAF	Feb 14, 2017	MedGen:CN517202	not provided	germline	7	140801533	CAGGTACGAAAAACGTTTTTCACCTTAGCATTTTGTGACTTTTGTCGAAAGCTGCTTTTCC
132630330	25985	NM_001205019.1(GK):c.1525T>C (p.Trp509Arg)	GK	Aug 01, 1998	MedGen:C0268418,OMIM:307030,Orphanet:ORPHA308993,SNOMED CT:124322002	Deficiency of glycerol kinase	germline	X	30724124	ATTCTAGAAAGTGAAATTCGTTATTCTACATGGAAGAAAGCTGTGATGAAGTCAATGGGTT
121909142	22611	NM_001300.5(KLF6):c.190T>C (p.Trp64Arg)	KLF6	Dec 21, 2001	MedGen:C4015779	Prostate cancer, somatic	somatic	10	3782127	GAAATCAAATTTGACAGCCAGGAAGATCTGTGGACCAAAATCATTCTGGCTCGGGAGAAAA
120074134	18009	NM_000271.4(NPC1):c.1133T>C (p.Val378Ala)	NPC1	Jun 01, 2001	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23556436	TGGTGTTTGTCCGGGTCACAACCAATCCAGTTGACCTCTGGTCAGCCCCCAGCAGCCAGGC
61751405	105244	NM_000350.2(ABCA4):c.5196+2T>C	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline;unknown	1	94019580	ACTGGGTGACCAACTTCCTCTGGGACATCGTAAGTGTCAGTTTACAGCGCCTCCCTCCCCT
121913513	362798	NM_000222.2(KIT):c.1727T>C (p.Leu576Pro)	KIT	May 13, 2016	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;Human Phenotype Ontology:HP:0100522,MeSH:D013945,MedGen:C0040100,Orphanet:ORPHA99867	Gastrointestinal stroma tumor;Malignant melanoma;Non-small cell lung cancer;Thymoma	somatic	4	54727495	ACAATTATGTTTACATAGACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCAG
377767382	36217	NM_005359.5(SMAD4):c.1598T>C (p.Leu533Pro)	SMAD4	Dec 04, 2012	MedGen:C1832942,OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	not provided	18	51078406	GCTGGATTGAAATTCACTTACACCGGGCCCTCCAGCTCCTAGACGAAGTACTTCATACCAT
121913101	76469	NM_000142.4(FGFR3):c.2419T>C (p.Ter807Arg)	FGFR3	Sep 12, 2013	MedGen:C1868678,OMIM:187600,Orphanet:ORPHA1860	Thanatophoric dysplasia type 1	not provided	4	1807260	GCCCCACCCAGCAGTGGGGGCTCGCGGACGTGAAGGGCCACTGGTCCCCAACAATGTGAGG
79993407	131918	NM_033629.4(TREX1):c.365T>C (p.Val122Ala)	TREX1	Mar 13, 2014	MedGen:C0796126,OMIM:225750	Aicardi Goutieres syndrome 1	germline	3	48467020	TGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCC
121918524	25839	NM_015107.2(PHF8):c.836T>C (p.Phe279Ser)	PHF8	Aug 01, 2007	MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287	Siderius X-linked mental retardation syndrome	germline	X	54011232	TCCGCCCAACAAATGCCAATCTGACTCTCTTTGAGTGCTGGAGCAGTTCCTCTAATCAGAA
137852592	24886	NM_000044.4(AR):c.2423T>C (p.Met808Thr)	AR	Oct 23, 1999	MedGen:C0268301,OMIM:312300,Orphanet:ORPHA90797,SNOMED CT:58672003	Partial androgen insensitivity syndrome	germline	X	67721937	TCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAA
864309540	215115	NM_001271.3(CHD2):c.2468T>C (p.Leu823Pro)	CHD2	Sep 10, 2015	MedGen:C3809278,OMIM:615369	Epileptic encephalopathy, childhood-onset	germline	15	92972380	TCTCTCAGATGGTGAGAATGTTGGATATCCTGGCTGAATACCTAACTATTAAACACTATCC
81002805	66075	NM_000059.3(BRCA2):c.316+2T>C	BRCA2	Feb 12, 2015	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32319327	AGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGTAGACTGGGGAGAA
786205567	188988	NM_052990.2(IFT122):c.2042+2T>C	IFT122	-	MedGen:CN119432,SNOMED CT:254093009;MedGen:CN517202	Cranioectodermal dysplasia;not provided	germline	3	129500070	ATCTGTGGTGACCATGGCTGGGTTGACATGTAGGTTTTGGTCCCTGCCCCGAGAAGCATTT
33924146	30290	NM_000518.4(HBB):c.127T>C (p.Phe43Leu)	HBB	Jan 01, 1989	Human Phenotype Ontology:HP:0001878,MedGen:C0002878,Orphanet:ORPHA98363	Hemolytic anemia	germline	11	5226765	CTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTG
28933398	27956	NM_000702.3(ATP1A2):c.2291T>C (p.Leu764Pro)	ATP1A2	Feb 01, 2003	MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine type 2	germline	1	160135845	GATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGC
63750654	30022	NM_000184.2(HBG2):c.-228T>C	HBG2	May 01, 1993	MedGen:C1841621,OMIM:141749	Fetal hemoglobin quantitative trait locus 1	germline	11	5254956	GGCCCCTTCCCCACACTATCTCAATGCAAATATCTGTCTGAAACGGTCCCTGGCTAAACTC
74315452	29801	NM_000454.4(SOD1):c.338T>C (p.Ile113Thr)	SOD1	Sep 01, 1997	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31667356	CTGTGATCTCACTCTCAGGAGACCATTGCATCATTGGCCGCACACTGGTGGTAAGTTTTCA
199422317	47528	NM_001099274.1(TINF2):c.862T>C (p.Phe288Leu)	TINF2	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	Aplastic anemia	not provided	14	24240618	GGCCATAAGGAGCGCCCCACAGTCATGCTGTTTCCCTTTAGGAATCTCGGCTCACCAACCC
786205904	190099	NM_004736.3(XPR1):c.653T>C (p.Leu218Ser)	XPR1	Jun 01, 2015	MedGen:C4225335,OMIM:616413	Basal ganglia calcification, idiopathic, 6	germline	1	180806529	ATGGTGACAGACAAAAGGCTATGAAGCGTTTACGTGTCCCCCCTTTGGGAGCTGCTCAGGT
312262819	49526	NM_003611.2(OFD1):c.274T>C (p.Ser92Pro)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13736640	TTACAAAGATGTGGCTATGAATATTCACTTTCTGTTTTCTTTCCAGAAAGTGGTTTGGCAA
104894929	24932	NM_000330.3(RS1):c.667T>C (p.Cys223Arg)	RS1	Jan 01, 1999	MedGen:C0271091,OMIM:312700,Orphanet:ORPHA792,SNOMED CT:86923008	Juvenile retinoschisis	germline	X	18642012	CGGATGGAGCTGCTGGAGTGCGTCAGCAAGTGTGCCTGATGCCTGCCTCAGCTCGGCGCCT
28931569	33010	NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	SERPINA1	Jul 15, 2016	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007;na	Alpha-1-antitrypsin deficiency;PI M(PROCIDA)	germline	14	94383044	CTGAGTTCGCCTTCAGCCTATACCGCCAGCTGGCACACCAGTCCAACAGCACCAATATCTT
132630288	26124	NM_001128834.2(PLP1):c.560T>C (p.Ile187Thr)	PLP1	Apr 01, 2004	MedGen:C1839264,OMIM:312920,Orphanet:ORPHA99015	Spastic paraplegia 2	germline	X	103787904	ACTTCAACACCTGGACCACCTGCCAGTCTATTGCCTTCCCCAGCAAGACCTCTGCCAGTAT
121918299	17946	NM_004817.3(TJP2):c.143T>C (p.Val48Ala)	TJP2	May 01, 2003	MedGen:C1843139,OMIM:607748,Orphanet:ORPHA238475	Hypercholanemia, familial	germline	9	69216367	AGGATTCCAAAAGAGGATTTGGAATTGCAGTGTCCGGAGGCAGAGACAACCCCCACTTTGA
199474825	24697	m.7587T>C	MT-CO2	May 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	7587	AAATTATAGGCTAAATCCTATATATCTTAATGGCACATGCAGCGCAAGTAGGTCTACAAGA
137854101	59058	NM_000548.4(TSC2):c.730T>C (p.Cys244Arg)	TSC2	Feb 17, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2056725	GAGAGCCTCCCGCTGTTCATCGTTACCCTCTGTCGCACCATCAACGTCAAGGAGCTCTGCG
587777080	102930	NM_015662.2(IFT172):c.4607T>C (p.Leu1536Pro)	IFT172	Feb 10, 2014	MedGen:C4017084	Short-rib thoracic dysplasia 10 without polydactyly	germline	2	27447567	CAGCCCATGAGGAGTTCAAGACGATGCTGCTGATCGCTCATTACTATGCCACGCGCTCTGC
-1	442482	NM_000044.4(AR):c.1768+2T>C	AR	Aug 02, 2017	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	67643409	CAAGGTCTTCTTCAAAAGAGCCGCTGAAGGTAAAGGGTCTTGCACATGCACTTCTCTTTCC
1060499555	384611	NM_006147.3(IRF6):c.113T>C (p.Ile38Thr)	IRF6	-	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Van der Woude syndrome	inherited	1	209801301	GGCTACACAGGGACTCTAAACGCTTCCAGATTCCCTGGAAACATGCCACCCGGCATAGCCC
397514538	48175	NM_024531.4(SLC52A2):c.368T>C (p.Leu123Pro)	SLC52A2	Mar 17, 2015	MedGen:C3553538,OMIM:614707	Brown-Vialetto-Van Laere syndrome 2	germline	8	144359860	CCTTCTTAGCACTGGCCTTTGTGCTGGCACTGGCATGCTGTGCCTCGAATGTCACTTTCCT
879254945	246222	NM_000527.4(LDLR):c.1586+2T>C	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11113764	AGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGG
-1	487013	NM_000551.3(VHL):c.262T>C (p.Trp88Arg)	VHL	Feb 03, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10142109	AATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCT
121918632	27941	NM_006920.4(SCN1A):c.4462T>C (p.Phe1488Leu)	SCN1A	Mar 31, 2009	MedGen:C1864987,OMIM:609634	Familial hemiplegic migraine type 3	germline	2	165996099	TCTTTTCTATACTTTGGAGGTCAAGACATCTTTATGACAGAAGAACAGAAGAAATACTATA
878854359	205600	NM_006579.2(EBP):c.139T>C (p.Trp47Arg)	EBP	Apr 01, 2014	MedGen:C4085243,OMIM:300960,Orphanet:ORPHA401973	MEND syndrome	germline	X	48523910	TCTGTCACAGGGGTCTTAGTCGTGACCACATGGCTGTTGTCAGGTCGTGCTGCGGTTGTCC
121918083	28483	NM_000371.3(TTR):c.88T>C (p.Cys30Arg)	TTR	Apr 05, 2016	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31592914	CTCTACACCCAGGGCACCGGTGAATCCAAGTGTCCTCTGATGGTCAAAGTTCTAGATGCTG
878853079	237293	NM_000054.4(AVPR2):c.392T>C (p.Leu131Pro)	AVPR2	Mar 20, 2015	MedGen:CN517202	not provided	germline	X	153905898	TGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCAT
104894508	33339	NM_000485.2(APRT):c.329T>C (p.Leu110Pro)	APRT	May 01, 1994	MedGen:C0268120,OMIM:614723	Adenine phosphoribosyltransferase deficiency	germline	16	88810141	CCACACACCACTTCCCACTCCAGGCTGAGCTGGAGATTCAGAAAGACGCCCTGGAGCCAGG
104895221	27378	NM_001065.3(TNFRSF1A):c.349T>C (p.Cys117Arg)	TNFRSF1A	Apr 02, 1999	MedGen:C1275126,OMIM:142680,Orphanet:ORPHA32960,SNOMED CT:403833009	TNF receptor-associated periodic fever syndrome (TRAPS)	germline	12	6333490	CCAGAAATGGGTCAGGTGGAGATCTCTTCTTGCACAGTGGACCGGGACACCGTGTGTGGCT
148954387	136364	NM_003122.4(SPINK1):c.194+2T>C	SPINK1	Jun 19, 2017	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN169374	Hereditary pancreatitis;not specified	germline	5	147828020	AATGAATGCGTGTTATGTTTTGAAAATCGGTGAGTACAAACTTGAGTTTCTTTTAAACTAT
397508038	262853	NM_000059.3(BRCA2):c.9117+2T>C	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32379915	CAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTT
199476138	24686	m.9185T>C	MT-ATP6	May 22, 2017	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C0751651,Orphanet:ORPHA68380	Charcot-Marie-Tooth disease;Leigh syndrome;Mitochondrial diseases	germline	MT	9185	AAGCCTACGTTTTCACACTTCTAGTAAGCCTCTACCTGCACGACAACACATAATGACCCAC
544436734	172131	NM_014305.3(TGDS):c.700T>C (p.Tyr234His)	TGDS	Jan 14, 2015	Gene:100862706,MedGen:C1844887,OMIM:616145,Orphanet:ORPHA1388	Catel Manzke syndrome	germline	13	94578130	GGGTCAGGGCTTCAAACAAGAAACTTCCTTTATGCTACTGATGTTGTAGAAGCATTTCTCA
113994040	19161	NM_001034116.1(EIF2B4):c.1465T>C (p.Tyr489His)	EIF2B4	Jun 01, 2003	MedGen:C1847967,Orphanet:ORPHA99853	Ovarioleukodystrophy	germline	2	27364507	CACGCATCCCTACGGTTGTTGAATCTAGTCTATGATGTGACTCCCCCAGAGCTTGTGGATC
74315421	16230	NM_001029871.3(RSPO4):c.319T>C (p.Cys107Arg)	RSPO4	Nov 01, 2006	MedGen:C0265998,OMIM:206800,Orphanet:ORPHA79143,SNOMED CT:23610003	Anonychia	germline	20	967264	AGCTGCTTCAGCCAGGACTTCTGCATCCGGTGCAAGAGGCAGTTTTACTTGTACAAGGGGA
104894968	24785	NM_003140.2(SRY):c.203T>C (p.Ile68Thr)	SRY	Apr 11, 1995	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787401	ATAGAGTGAAGCGACCCATGAACGCATTCATCGTGTGGTCTCGCGATCAGAGGCGCAAGAT
879255147	246532	NM_000527.4(LDLR):c.2140+2T>C	LDLR	Nov 05, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11120524	GGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTG
267606685	15181	NM_033409.3(SLC52A3):c.670T>C (p.Phe224Leu)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	763901	CTTCCCGCCCACTTCTCACCCCTGGTCTTCTTCCTCCTCCTATCCATCATGATGGCCTGCT
121912441	194306	NM_000454.4(SOD1):c.341T>C (p.Ile114Thr)	SOD1	Oct 24, 2017	MedGen:C1862939,OMIM:105400;MedGen:C0085084,Orphanet:ORPHA98503,SNOMED CT:37340000;MedGen:CN517202	Amyotrophic lateral sclerosis type 1;Motor neuron disease;not provided	germline;unknown	21	31667359	TGATCTCACTCTCAGGAGACCATTGCATCATTGGCCGCACACTGGTGGTAAGTTTTCATAA
730882063	38727	NM_004523.3(KIF11):c.2547+2T>C	KIF11	Feb 10, 2012	MedGen:C1835265,OMIM:152950,Orphanet:ORPHA2526	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	germline	10	92645644	GGGAACAGGAACTTCACAACTTATTGGAGGTAATAACTTTGTAAGTGGAACTTACTTTGGG
398124257	101425	NM_012463.3(ATP6V0A2):c.825+2T>C	ATP6V0A2	Nov 01, 2012	MedGen:C0268355,OMIM:219200,Orphanet:ORPHA357058,SNOMED CT:73856006	Cutis laxa with osteodystrophy	germline	12	123735626	TGAACACCCGCATCCAGGATCTCTACACTGTGAGTAAGCTGGAAGTGGATTGCCTCTTTAT
121909292	23233	NM_006302.2(MOGS):c.1954T>C (p.Phe652Leu)	MOGS	Jun 01, 2000	MedGen:C1853736,OMIM:606056,Orphanet:ORPHA79330	Congenital disorder of glycosylation type 2B	germline	2	74461835	GAGCTGCACTGGGCCCCAGAGCTAGGAGTCTTTGCAGACTTTGGGAACCACACAAAAGCAG
267606940	33499	NM_024411.4(PDYN):c.632T>C (p.Leu211Ser)	PDYN	Nov 12, 2010	MedGen:C1853250,OMIM:610245,Orphanet:ORPHA101108	Spinocerebellar ataxia 23	germline	20	1980456	AGGACCTGTACAAACGCTATGGGGGCTTCTTGCGGCGCATTCGTCCCAAGCTCAAGTGGGA
267606828	28909	NM_005249.4(FOXG1):c.643T>C (p.Phe215Leu)	FOXG1	Jul 13, 2010	MedGen:C3150705,OMIM:613454	Rett syndrome, congenital variant	de novo;germline	14	28767922	AACGGCATCTACGAGTTCATCATGAAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCT
61749755	24389	NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser)	GUCY2D	Jan 12, 1999	MedGen:C2931258,OMIM:204000;MedGen:CN517202	Leber congenital amaurosis 1;not provided	germline	17	8009531	TGCAGGGAGACAGGGTTTGGCTGAAGAAATTCCCAGGGGATCAGCACATAGCTATCCGCCC
377686388	196253	NM_004453.3(ETFDH):c.1001T>C (p.Leu334Pro)	ETFDH	Dec 10, 2014	MedGen:C0268596,OMIM:231680,Orphanet:ORPHA26791,SNOMED CT:22886006	Glutaric aciduria, type 2	germline	4	158699015	AGGTTGGTCTAGACTATCAGAATCCATACCTGAGTCCATTTAGAGAGTTCCAAAGGTGGAA
397514569	48321	NM_178012.4(TUBB2B):c.350T>C (p.Leu117Pro)	TUBB2B	Nov 11, 2016	MedGen:C2750247,OMIM:610031;MedGen:CN517202	Polymicrogyria, asymmetric;not provided	germline	6	3225739	CAGAGGGAGCCGAGCTGGTCGACTCGGTCCTGGATGTGGTGAGGAAGGAGTCAGAGAGCTG
-1	440171	NM_001080463.1(DYNC2H1):c.7525T>C (p.Tyr2509His)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103191604	CTTACCCAATGGGTTCTTGGCTTATTTAGATATGATTTAGAAGGAGGTGAGTTTTGCTAGT
606231458	171254	NM_001543.4(NDST1):c.1918T>C (p.Phe640Leu)	NDST1	Dec 03, 2014	MedGen:C4015283,OMIM:616116	Mental retardation, autosomal recessive 46	germline	5	150542919	CTAAGCAGCAACTACCCCAGCTCTGAGACCTTTGAGGAGATCCAGTTTTTTAATGGCCACA
1800728	98777	NM_000350.2(ABCA4):c.5461-10T>C	ABCA4	May 17, 2017	Human Phenotype Ontology:HP:0011504,MedGen:C0730330;MedGen:C1858806,OMIM:604116;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;MedGen:CN517202	Bull's eye maculopathy;Cone-rod dystrophy 3;Macular dystrophy;Retinal dystrophy;Stargardt disease 1;not provided	germline;unknown	1	94011395	GGTTTGCCCCGTTTCCAACAGTCCTACTTCTCTGTTTCAGACGCTGCTCAGGTTCAACGCC
139304906	68358	NM_000492.3(CFTR):c.3230T>C (p.Leu1077Pro)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117611671	CCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAAGCTCTGAATTTACATACTGC
515726187	136335	NM_015713.4(RRM2B):c.368T>C (p.Phe123Ser)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102224972	AGGAGGTGCAGGTTCCAGAGGCTCGCTGTTTCTATGGCTTTCAAATTCTCATCGAGAATGT
-1	438536	NM_032525.2(TUBB6):c.1181T>C (p.Phe394Ser)	TUBB6	Oct 25, 2017	MedGen:CN570508,OMIM:617732	FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION	germline	18	12325970	AGTTCTCAGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTTCACGGGTGAGGGCATGGA
483352818	106613	NM_000211.4(ITGB2):c.1877+2T>C	ITGB2	-	MedGen:C0398738,OMIM:116920,Orphanet:ORPHA99842	Leukocyte adhesion deficiency type 1	inherited	21	44889274	GGCTGCCCCTCACCCTGTGGCAAGTACATGTGAGTGCAGGCGGAGCAGGCAGGGCGGGCAG
193929333	34046	NM_000525.3(KCNJ11):c.103T>C (p.Phe35Leu)	KCNJ11	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	17387989	AGGTACCGTGCCCGCCAGCGGAGGGCCCGCTTTGTGTCCAAGAAAGGCAACTGCAACGTGG
387907224	44200	NM_000076.2(CDKN1C):c.827T>C (p.Phe276Ser)	CDKN1C	Mar 13, 2014	MedGen:C1846009,OMIM:614732,Orphanet:ORPHA85173	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	germline	11	2884128	GGCCGCGCGCGCTGTCGCCCGCAGATTTCTTCGCCAAGCGCAAGAGATCAGCGCCTGAGAA
-1	214851	NM_016218.3(POLK):c.512T>C (p.Phe171Ser)	POLK	Mar 20, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75573841	GCCCACAACTTATAATAGTGCCCCCCAACTTTGACAAATACCGAGCTGTGAGTAAAGAGGT
121434385	17242	NM_018668.4(VPS33B):c.89T>C (p.Leu30Pro)	VPS33B	Dec 01, 2012	MedGen:C1859722,OMIM:208085,Orphanet:ORPHA2697	Arthrogryposis renal dysfunction cholestasis syndrome	germline	15	91022161	GGCTGGCTCGAGACCAGCTCATCTATCTGCTGGAGCAGGTCAGTGCTTGCCTGACGCCTTT
930701747	432259	NM_006984.4(CLDN10):c.2T>C (p.Met1Thr)	CLDN10	Feb 26, 2018	MedGen:CN469329,OMIM:617671	HELIX SYNDROME	germline	13	95552755	GGAGAGCGAGCGCGGCTGCAGCCGGCGGCATGGCTAGCACGGCTTCGGAGATCATCGCCTT
727503176	174742	NM_000256.3(MYBPC3):c.2994+2T>C	MYBPC3	Feb 04, 2015	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	11	47333920	AGCCTGTGAACCTTCTCATCCCTTTCCAGGTGGGACTGGCCCCCTTCCCTGTCCCCCAGGG
104894293	23091	NM_005055.4(RAPSN):c.848T>C (p.Leu283Pro)	RAPSN	Apr 16, 2015	MedGen:C4225367,OMIM:616326;MedGen:C1837091,OMIM:608931	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	germline	11	47441675	TGAGCATCATGACCGAGATCGGAAACCGCCTGGGGCAGGTGCAGGCGCTGCTGGGTGTGGC
121912613	16454	NM_001041.3(SI):c.1859T>C (p.Leu620Pro)	SI	Dec 01, 2003	MedGen:C1283620,OMIM:222900,Orphanet:ORPHA35122,SNOMED CT:360854006,SNOMED CT:78373000	Sucrase-isomaltase deficiency	germline	3	165046869	AACAAATGGAATGGTCTATAACTGGAATGCTGGAGTTCAGTTTGTTTGGAATACCTTTGGT
1064794025	409289	NM_000138.4(FBN1):c.2179T>C (p.Cys727Arg)	FBN1	Aug 05, 2015	MedGen:CN517202	not provided	germline	15	48497380	GACCTTTTTTGTGGTGCAGATATAAATGAATGTGCACTAGATCCTGATATTTGCCCAAATG
-1	486985	NM_000551.3(VHL):c.355T>C (p.Phe119Leu)	VHL	Feb 05, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10146528	TTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTC
377767391	36237	NM_020630.4(RET):c.1831T>C (p.Cys611Arg)	RET	Dec 04, 2012	MedGen:CN076152	MEN2 phenotype: Unclassified	not provided	10	43113627	GGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCG
797045024	205063	NM_001356.4(DDX3X):c.1520T>C (p.Ile507Thr)	DDX3X	Aug 06, 2015	MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260	Mental retardation, X-linked 102	germline	X	41346527	TTTTCCAGGTAGCAGCAAGAGGACTGGACATTTCAAATGTGAAACATGTTATCAATTTTGA
387906397	179198	NM_000256.3(MYBPC3):c.3330+2T>C	MYBPC3	Feb 03, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN517202	Hypertrophic cardiomyopathy;not provided	germline	11	47333192	CAGTGCAGAAAGCCGACAAGAAGACCATGGTGAGCCCAGGGTCTGGGGTCCCCACGTGCAC
121918288	17782	NM_004183.3(BEST1):c.122T>C (p.Leu41Pro)	BEST1	Jan 01, 2008	MedGen:C3888198,OMIM:611809,Orphanet:ORPHA139455;MedGen:CN517202	Bestrophinopathy, autosomal recessive;not provided	germline	11	61951928	TGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAG
794727566	193968	NM_138694.3(PKHD1):c.5060T>C (p.Ile1687Thr)	PKHD1	Aug 10, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003;MedGen:CN517202	Autosomal recessive polycystic kidney disease;not provided	germline	6	52024750	TCTCAGGAGCTGCAAACATTGACATTTTTATAGGAATGTCACCCTGTGTGGGTGTCTCTGG
118192117	51265	NM_000540.2(RYR1):c.1205T>C (p.Met402Thr)	RYR1	Apr 11, 2013	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:CN517202	Central core disease;Congenital myopathy with fiber type disproportion;not provided	unknown	19	38451846	GCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCA
879254849	246074	NM_000527.4(LDLR):c.1268T>C (p.Ile423Thr)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia;Familial hypercholesterolemia	germline;not applicable	19	11113359	CGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGA
72657695	426891	NM_001171.5(ABCC6):c.3188T>C (p.Leu1063Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16165741	ACACGGTTGACGTGGACATTCCAGACAAACTCCGGTCCCTGCTGATGTACGCCTTTGGACT
72658864	424327	NM_000527.4(LDLR):c.1733T>C (p.Val578Ala)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116886	TAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCAT
397515412	48286	NM_006383.3(CIB2):c.368T>C (p.Ile123Thr)	CIB2	Nov 06, 2012	MedGen:C1836199,OMIM:609439	Deafness, autosomal recessive 48	germline	15	78105913	GCCCTACAGACTTCAACACTGACAACTTCATCTGCAAGGAGGACCTGGAGCTGACGCTGGC
398122897	48060	NM_001111.4(ADAR):c.2615T>C (p.Ile872Thr)	ADAR	Jun 27, 2013	MedGen:C3539013,OMIM:615010	Aicardi-goutieres syndrome 6	germline	1	154589810	CCTTGCTCGGCCGCAAGATTCTGGCCGCCATCATTATGAAAAAAGACTCTGAGGACATGGG
113993955	222920	NM_000202.7(IDS):c.181T>C (p.Ser61Pro)	IDS	Jan 27, 2010	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	maternal	X	149504216	CTGGGCTGTTATGGGGATAAGCTGGTGAGGTCCCCAAATATTGACCAACTGGCATCCCACA
748034744	214334	NM_025114.3(CEP290):c.2343T>C (p.Asn781=)	CEP290	Feb 23, 2015	MedGen:C1857780,OMIM:610188	Joubert syndrome 5	unknown	12	88111226	ATCTAGTGCCAGTATCATTAATTCTCAGAATGAATATTTAATACATTTGTTACAGGTATTG
121964906	15260	NM_000027.3(AGA):c.916T>C (p.Cys306Arg)	AGA	Dec 15, 1991	Human Phenotype Ontology:HP:0012068,MedGen:C0268225,OMIM:208400	Aspartylglucosaminuria	germline	4	177433238	CATTTTCCAGAATTCTTTGGGGCTGTTATATGTGCCAATGTGACTGGAAGTTACGGTAAGT
397515525	76504	NM_000370.3(TTPA):c.548T>C (p.Leu183Pro)	TTPA	Jun 27, 2013	MedGen:C1848533,OMIM:277460,Orphanet:ORPHA96	Ataxia with vitamin E deficiency	not provided	8	63065908	CATCCGTAGCCAAGAAGATTGCTGCTGTACTTACGGTAAATGTATATTTTAACTGTCAGGC
63749998	426877	NM_001171.5(ABCC6):c.3380T>C (p.Met1127Thr)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16163119	CAGCCAGCTACTCGTCTGTCTGCTCCCACATGGCTGAGACGTTCCAGGGCAGCACAGTGGT
80357111	69412	NM_007294.3(BRCA1):c.2T>C (p.Met1Thr)	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43124095	TGTGTTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGT
1057519294	361797	NM_138773.3(SLC25A46):c.1022T>C (p.Leu341Pro)	SLC25A46	Jan 14, 2017	MedGen:C4225302,OMIM:616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	germline	5	110761547	TTTACCCATTGGAAACAGTTTTGCACCGCCTTCACATTCAAGGAACACGCACAATAATTGA
869320740	136355	NM_001256850.1(TTN):c.90211T>C (p.Cys30071Arg)	TTN	Jul 27, 2017	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	178546102	ATTACACCTGTTTCAGATTCCCCTGGCCCATGTGGAAAGCTCACCGTCAGCAGAGTAACAC
527236092	152813	NM_001077620.2(PRCD):c.2T>C (p.Met1Thr)	PRCD	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	17	76540143	GGCCTGGGAGGGGATGGGGCAGCTGCGCCATGTGCACCACCCTTTTCCTGCTCAGCACCCT
118192131	76867	NM_000540.2(RYR1):c.13703T>C (p.Leu4568Pro)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38570650	GGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTT
387906914	39446	NM_173170.1(IL36RN):c.80T>C (p.Leu27Pro)	IL36RN	Aug 18, 2011	MedGen:C0343055,OMIM:614204,Orphanet:ORPHA247353	Pustular psoriasis, generalized	germline	2	113060902	AGGTGCTTTATCTGCATAATAACCAGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGGTCAT
57695159	30947	NM_006121.3(KRT1):c.482T>C (p.Leu161Pro)	KRT1	Sep 04, 1992	Human Phenotype Ontology:HP:0007475,MedGen:C0079153,OMIM:113800,Orphanet:ORPHA312,SNOMED CT:254167000;MedGen:CN517202	Bullous ichthyosiform erythroderma;not provided	germline	12	52679867	GCATACAAGAAGTCACTATCAACCAGAGCCTTCTTCAGCCCCTCAATGTGGAGATTGACCC
104894100	21666	NM_006412.3(AGPAT2):c.683T>C (p.Leu228Pro)	AGPAT2	May 01, 2002	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline	9	136673906	CCCCCACAGGAACAGTCACAGTGCAGGTGCTGGAAGCCATCCCCACCAGCGGCCTCACTGC
397514422	36425	NM_000060.4(BTD):c.1459T>C (p.Trp487Arg)	BTD	Apr 13, 2015	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN517202	Biotinidase deficiency;not provided	germline	3	15645315	GAGGCCACGGGGATATTTGAGTTTCACCTGTGGGGCAACTTCAGTACTTCCTATATCTTTC
120074146	17883	NM_000019.3(ACAT1):c.935T>C (p.Ile312Thr)	ACAT1	Jan 01, 1998	MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007	Deficiency of acetyl-CoA acetyltransferase	germline	11	108142545	AGAGGCTCAATGTTACACCACTGGCAAGAATAGTAGGTAAGGCCAGGCGAGGTGGCTCACA
387907290	45793	NM_022787.3(NMNAT1):c.838T>C (p.Ter280Gln)	NMNAT1	Sep 01, 2012	MedGen:C1837873,OMIM:608553	Leber congenital amaurosis 9	germline	1	9982699	TTGCAGAGAAACACTGCAGAAGCTAAGACATAGGAATTCTACAGCATGATATTTCAGACTT
1085307265	414203	NM_001204.6(BMPR2):c.830T>C (p.Leu277Pro)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202519030	TCACTGCAGATGGACGCATGGAATATTTGCTTGTGATGGAGTACTATCCCAATGTAAGTTC
587777454	141337	NM_022068.3(PIEZO2):c.8215T>C (p.Ser2739Pro)	PIEZO2	Jun 04, 2014	MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154	Oculomelic amyoplasia	germline;inherited	18	10671571	CTCTATGCCAAATTAATATTCCTATATCGCTCACCAGAGACAATGATCAAATGGACTAGAG
111033679	36494	NM_000155.3(GALT):c.350T>C (p.Phe117Ser)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647678	TTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTA
397514507	48064	NM_004281.3(BAG3):c.1385T>C (p.Leu462Pro)	BAG3	Jan 31, 2017	MedGen:C3151293,OMIM:613881;MedGen:CN517202	Dilated cardiomyopathy 1HH;not provided	germline	10	119676939	TGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGG
28928904	78166	NM_000238.3(KCNH2):c.1778T>C (p.Ile593Thr)	KCNH2	Feb 02, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150951615	TCGGCTGGCTGCACAACCTGGGCGACCAGATAGGCAAACCCTACAACAGCAGCGGCCTGGG
368345612	404698	NM_004315.5(ASAH1):c.1202T>C (p.Leu401Pro)	ASAH1	Apr 03, 2017	Human Phenotype Ontology:HP:0010562,MedGen:C0022548,OMIM:148100	Keloid formation	inherited	8	18057568	ATGTTACCAAAGGTCAATTCGAAACTTACCTGCGGGACTGCCCTGACCCTTGTATAGGTTG
201863060	38954	m.12338T>C	MT-ND5	May 01, 2011	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	12338	AAATTTTGGTGCAACTCCAAATAAAAGTAATAACCATGCACACTACTATAACCACCCTAAC
387906753	39030	NM_139125.3(MASP1):c.1888T>C (p.Cys630Arg)	MASP1	Mar 01, 2011	MedGen:C0796059,OMIM:257920	Michels syndrome	germline	3	187235983	GTCAAGTTACCCGTGGTGCCTCACGCTGAGTGCAAAACTAGCTATGAGTCCCGCTCGGGCA
1060505031	404660	NM_001696.3(ATP6V1E1):c.383T>C (p.Leu128Pro)	ATP6V1E1	Mar 27, 2017	MedGen:CN241832,OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	germline	22	17600079	ACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAA
886041870	264196	NM_023073.3(CPLANE1):c.677+2T>C	CPLANE1	Jul 13, 2016	MedGen:CN517202	not provided	germline	5	37243011	TGGCATGAGAATGTATTTACATCTGTAAGGTGAGGTAAATGTTTTCTTCTTCCTTTTCTTA
869025326	223752	NM_000091.4(COL4A3):c.765+2T>C	COL4A3	Feb 02, 2016	MedGen:C0241908,OMIM:141200,SNOMED CT:236421001	Benign familial hematuria	inherited	2	227253640	TGACCCTAACTGGCCCAGATAACAGAACGGTAACTCTGCGATTTTATGATTAGTGTTGTGC
-1	441125	NM_000162.4(GCK):c.295T>C (p.Trp99Arg)	GCK	Nov 03, 2017	MedGen:CN517202	not provided	germline	7	44152339	GTGAAGGTGGGAGAAGGTGAGGAGGGGCAGTGGAGCGTGAAGACCAAACACCAGATGTACT
76202909	368190	NM_000065.3(C6):c.2381+2T>C	C6	Apr 14, 2015	MedGen:CN517202	not provided	germline	5	41149933	ATTTGTATGTCTCCAGAAGAAGACTGTAGGTAAGAGATACCCTACAGACTGTGTCTGGAAA
199476135	24683	m.9176T>C	MT-ATP6	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1839022,OMIM:500003	Leigh syndrome;Striatonigral degeneration, infantile, mitochondrial	germline	MT	9176	CCTTAATCCAAGCCTACGTTTTCACACTTCTAGTAAGCCTCTACCTGCACGACAACACATA
199474658	24629	m.3271T>C	MT-TL1	Mar 17, 2017	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003;MedGen:CN169374	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;not specified	germline	MT	3271	AGAGCCCGGTAATCGCATAAAACTTAAAACTTTACAGTCAGAGGTTCAATTCCTCTTCTTA
376439188	485792	NM_005912.2(MC4R):c.161T>C (p.Leu54Pro)	MC4R	May 04, 2017	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline	18	60372189	TTTTTGTCTCTCCTGAGGTGTTTGTGACTCTGGGTGTCATCAGCTTGTTGGAGAATATCTT
387906936	39527	NM_022445.3(TPK1):c.119T>C (p.Leu40Pro)	TPK1	Dec 09, 2011	MedGen:C3280866,OMIM:614458,Orphanet:ORPHA293955	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	germline	7	144682975	AAATGATTTTGTTCTTTCTATTTGAAGCTCTTTTAAGAGCCTGTGCCGATGGAGGTGCCAA
281865090	33953	NM_000195.4(HPS1):c.2003T>C (p.Leu668Pro)	HPS1	Oct 11, 2012	MedGen:C2931875,OMIM:203300	Hermansky-Pudlak syndrome 1	not provided	10	98417664	CAACCGAGGCTGTCAGGTGCTACGAGCTGCTGGCCCTGCACCTGTCTGTCATCCCCACTGA
587777306	132418	NM_015884.3(MBTPS2):c.1391T>C (p.Phe464Ser)	MBTPS2	Feb 01, 2013	MedGen:C3806745,OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	germline	X	21882486	CTCTGGCTATTGTTAATGCAGTACCCTGCTTTGCTTTGGATGGACAATGGATTCTAAACTC
104894719	27567	NM_000660.6(TGFB1):c.673T>C (p.Cys225Arg)	TGFB1	Mar 05, 2015	Human Phenotype Ontology:HP:0100252,MedGen:C0011989,OMIM:131300,SNOMED CT:34643004	Diaphyseal dysplasia	germline	19	41342209	GAGGGCTTTCGCCTTAGCGCCCACTGCTCCTGTGACAGCAGGGATAACACACTGCAAGTGG
587777216	108185	NM_001278503.1(STT3A):c.1877T>C (p.Val626Ala)	STT3A	Nov 15, 2013	MedGen:C3810062,OMIM:615596,Orphanet:ORPHA370921	Congenital disorder of glycosylation type 1w	germline	11	125618475	ACTATTATACTCCAACTGGGGAGTTCCGTGTGGACCGTGAAGGTTCTCCAGTGCTGCTCAA
-1	439754	NM_014714.3(IFT140):c.985T>C (p.Cys329Arg)	IFT140	Nov 22, 2017	MedGen:CN638473,OMIM:617781	RETINITIS PIGMENTOSA 80	germline	16	1587222	TTTGGCTTTGAGAAAGGAGAGAATATGAACTGTGTGTGTTACTGTAAAGTCAAAGGTGAGG
863223518	209907	NM_000501.3(ELN):c.2T>C (p.Met1Thr)	ELN	Mar 20, 2015	MedGen:CN517202	not provided	germline	7	74028189	GAGAGCGGGCTGGGGCATTTCTCCCCGAGATGGCGGGTCTGACGGCGGCGGCCCCGCGGCC
1057520781	379314	NM_000167.5(GK):c.259+2T>C	GK	Jun 02, 2015	MedGen:CN517202	not provided	germline	X	30668120	GCTCAATATTGATATTTCCAACATAAAAGGTATTTTAGTAGAATATTTTACCCACATAATA
886044845	269855	NM_000169.2(GLA):c.424T>C (p.Cys142Arg)	GLA	Jan 05, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101401755	GGGATTTATGCAGATGTTGGAAATAAAACCTGCGCAGGCTTCCCTGGGAGTTTTGGATACT
878853129	237485	NM_052867.3(NALCN):c.3050T>C (p.Ile1017Thr)	NALCN	May 19, 2015	MedGen:C4225398,OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	de novo	13	101103179	TTCGAGAACTTTTCAGCGGCTTCAAGGAAATTTTTTTGGTATGTGAGAATTATCCTTTGAT
180177268	200429	NM_000030.2(AGXT):c.77T>C (p.Leu26Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240868942	AGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCG
1057521047	379884	NM_000169.2(GLA):c.154T>C (p.Cys52Arg)	GLA	Jan 18, 2017	MedGen:CN517202	not provided	germline	X	101407750	ATGGGCTGGCTGCACTGGGAGCGCTTCATGTGCAACCTTGACTGCCAGGAAGAGCCAGATT
786204012	185789	NM_005957.4(MTHFR):c.388T>C (p.Cys130Arg)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11801248	TGTGGCCTGGAGACCATCCTGCACATGACCTGCTGCCGTCAGCGCCTGGAGGAGATCACGG
150181226	39973	NM_001159772.1(CANT1):c.671T>C (p.Leu224Pro)	CANT1	Jan 01, 2011	MedGen:C4012146,OMIM:251450	Desbuquois dysplasia 1	germline	17	78995182	CCGAATGGCTGGCAGTGAAGGACGAGCGTCTGTACGTGGGCGGCCTGGGCAAGGAGTGGAC
267606917	21913	NM_004646.3(NPHS1):c.793T>C (p.Cys265Arg)	NPHS1	Aug 15, 2009	MedGen:C0403399,OMIM:256300,Orphanet:ORPHA839,SNOMED CT:197601003	Finnish congenital nephrotic syndrome	germline	19	35849283	GTGCGGGCAGGACAGAGCTTGGAGCTGCCGTGCGTGGCCCGAGGGGGTAATCCCTTAGCCA
104894547	33359	NM_001614.3(ACTG1):c.1109T>C (p.Val370Ala)	ACTG1	Oct 01, 2006	MedGen:C1858172,OMIM:604717	Deafness, autosomal dominant 20	germline	17	81510709	AGGAGTACGACGAGTCGGGCCCCTCCATCGTCCACCGCAAATGCTTCTAAACGGACTCAGC
121909677	31238	NM_000821.6(GGCX):c.896T>C (p.Phe299Ser)	GGCX	Mar 01, 2007	MedGen:C1835813,OMIM:610842,Orphanet:ORPHA91135	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	germline	2	85553491	TGTATTTTCTCCCTGCTTTCCTAGGTATGTTCTCCTACGTCATGCTGGCCAGCAGCCCTCT
104894899	485818	NM_000475.4(NR0B1):c.1142T>C (p.Leu381Pro)	NR0B1	Feb 13, 2008	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30308222	TGAACATCAGTACCAAGGAGTACGCCTACCTCAAGGGGACCGTGCTCTTTAACCCGGGTAA
72653765	427029	NM_001171.5(ABCC6):c.1244T>C (p.Val415Ala)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16198115	CGGTGGGTGATGTGGTCAATCTGGTGTCCGTGGACGTGCAGCGGCTGACCGAGAGCGTCCT
-1	434875	NM_001212.3(C1QBP):c.824T>C (p.Leu275Pro)	C1QBP	Oct 12, 2017	MedGen:CN533576,OMIM:617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	germline	17	5433040	ACCAGGAGTACATTACTTTTCTTGAAGACCTCAAGAGTTTTGTCAAGAGCCAGTAGAGCAG
121909727	31197	NM_001018077.1(NR3C1):c.2209T>C (p.Phe737Leu)	NR3C1	Oct 01, 2007	MedGen:C1841972,OMIM:615962,Orphanet:ORPHA786	Glucocorticoid resistance, generalized	germline	5	143282014	CAGGTGGTTGAAAATCTCCTTAACTATTGCTTCCAAACATTTTTGGATAAGACCATGAGTA
886038202	249225	NM_006147.3(IRF6):c.1316T>C (p.Leu439Pro)	IRF6	Oct 18, 2017	MedGen:C0265259,OMIM:119500,SNOMED CT:66783006	Popliteal pterygium syndrome	germline	1	209788508	AGGATAACATCGTTGCTCAGCTGAAGCAGCTGTACCGCATCCTTCAAACCCAGGAGAGCTG
121909048	22131	NM_001040667.2(HSF4):c.341T>C (p.Leu114Pro)	HSF4	Jul 01, 2002	Human Phenotype Ontology:HP:0007971,MedGen:C0266537,OMIM:116800	Lamellar cataract	germline	16	67165827	CGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGC
886037896	248617	NM_015650.3(TRAF3IP1):c.374T>C (p.Val125Ala)	TRAF3IP1	Sep 06, 2016	MedGen:C4225263,OMIM:616629	Senior-Loken syndrome 9	germline	2	238328705	TGGACGACAAGCTCTCTAGTGACGATGCGGTGCGGAGGGTTTTAGCTGGAGAGAAGGGAGA
146795445	68495	NM_000492.3(CFTR):c.3873+2T>C	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117642595	GGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCA
398123354	98815	NM_000404.3(GLB1):c.457+2T>C	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	33068228	GTCTATTCTTCTCCGCTCCTCCGACCCAGGTAGGTTGTTACAGATGTCTTGAGAAGATTTA
121908426	20382	NM_153717.2(EVC):c.919T>C (p.Ser307Pro)	EVC	Dec 09, 2017	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005;MedGen:C0457013,OMIM:193530,SNOMED CT:277807007	Chondroectodermal dysplasia;Curry-Hall syndrome	germline;maternal	4	5745321	GCTGATGTGGAAAAGAAGGAGAGAGAATACTCTGAACAGCTAATCGATAATGTGCGTGCCA
119474039	19479	NM_020365.4(EIF2B3):c.1037T>C (p.Ile346Thr)	EIF2B3	Feb 01, 2009	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	1	44875634	AAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGT
80358026	69133	NM_007294.3(BRCA1):c.212+2T>C	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43106454	CCTTTATGTAAGAATGATATAACCAAAAGGTATATAATTTGGTAATGATGCTAGGTTGGAA
201387914	247458	NM_020812.3(DOCK6):c.5939+2T>C	DOCK6	Aug 11, 2016	MedGen:C3280182,OMIM:614219	Adams-Oliver syndrome 2	germline	19	11200714	CGGCTCTGCTTCAAGGACTTCTGCAAGAAGTAGGCGCAAAACCCCCCAGGAGGGGTCTCGT
104894732	20836	NM_003332.3(TYROBP):c.2T>C (p.Met1Thr)	TYROBP	Mar 12, 2015	MedGen:C1857316,OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	germline	19	35908227	CACTGTGGTGTCCAGCAGCATCCGGCTTCATGGGGGGACTTGAACCCTGCAGCAGGCTCCT
58380626	29660	NM_000526.4(KRT14):c.1243T>C (p.Tyr415His)	KRT14	Mar 27, 2015	MedGen:C0079295,OMIM:131760,Orphanet:ORPHA79396;MedGen:CN517202	Epidermolysis bullosa herpetiformis, Dowling-Meara;not provided	germline	17	41583266	AAGACGCGGCTGGAGCAGGAGATCGCCACCTACCGCCGCCTGCTGGAGGGCGAGGACGCCC
548949031	172088	NM_152515.4(CKAP2L):c.2T>C (p.Met1Thr)	CKAP2L	Nov 06, 2014	MedGen:C0795940,OMIM:272440	Filippi syndrome	germline	2	112764597	GTTTGAAGAAAAACTGTCACTGAAGAGTCATGGTGGGGCCCGGGCCTACCGCTGCTGCCGC
28934603	15417	NM_000308.3(CTSA):c.247T>C (p.Trp83Arg)	CTSA	Jun 01, 1993	MedGen:C0268233,OMIM:256540,Orphanet:ORPHA351,SNOMED CT:35691006	Combined deficiency of sialidase AND beta galactosidase	germline	20	45891761	AAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATT
879254386	245341	NM_000527.4(LDLR):c.28T>C (p.Trp10Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089576	AGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGG
121434215	18128	NM_000487.5(ARSA):c.410T>C (p.Leu137Pro)	ARSA	Apr 01, 1998	MedGen:C0751279,Orphanet:ORPHA309271,SNOMED CT:24326000	Metachromatic leukodystrophy, adult type	germline	22	50627221	ACCTTGGGGTGGGGCCTGAGGGGGCCTTCCTGCCCCCCCATCAGGGCTTCCATCGATTTCT
875989836	227460	NM_001007593.2(SMPD1):c.1670T>C (p.Leu557Pro)	SMPD1	May 20, 2015	MedGen:C0268242,OMIM:257200,Orphanet:ORPHA77292,SNOMED CT:52165006	Niemann-Pick disease, type A	inherited	11	6394384	CCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACT
121908885	21498	NM_000369.2(TSHR):c.1400T>C (p.Leu467Pro)	TSHR	Jun 01, 2002	MedGen:C3493776,OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1	germline	14	81143458	CCTTTGCGGATTTCTGCATGGGGATGTACCTGCTCCTCATCGCCTCTGTAGACCTCTACAC
267608131	94975	NM_000179.2(MSH6):c.4001+2T>C	MSH6	Jan 21, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47806653	AAGATGAATCAGTCACTACGATTATTTCGGTAACTAACTAACTATAATGGAATTATAACTA
200519776	39963	NM_012338.3(TSPAN12):c.734T>C (p.Leu245Pro)	TSPAN12	Jun 01, 2011	MedGen:C2750079,OMIM:613310	Exudative vitreoretinopathy 5	germline	7	120788776	TCCTGGCCATGATTCTCACCATTACTCTGCTCTGGGCTCTGTATTATGATAGAAGGGAGCC
387906702	38884	NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr)	SMC1A	Jan 12, 2017	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009;MedGen:CN517202	Congenital muscular hypertrophy-cerebral syndrome;not provided	de novo;germline	X	53403635	ATGAGGTGTTTGAAGAGTTTTGTCGGGAGATTGGTGTGCGCAACATCCGGGAGTTTGAGGA
121918068	28495	NM_000371.3(TTR):c.157T>C (p.Phe53Leu)	TTR	Nov 01, 1998	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31592983	AGTCCTGCCATCAATGTGGCCGTGCATGTGTTCAGAAAGGCTGCTGATGACACCTGGGAGC
587784162	168235	NM_022455.4(NSD1):c.5885T>C (p.Ile1962Thr)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177280827	GGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCAT
111033171	21124	NM_003640.4(ELP1):c.2204+6T>C	ELP1	Aug 21, 2017	MedGen:C0013364,OMIM:223900,Orphanet:ORPHA1764,SNOMED CT:29159009;MedGen:CN517202	Familial dysautonomia;not provided	germline;unknown	9	108899816	CTCAGATTCGGAAGTGGTTGGACAAGTAAGTGCCATTGTACTGTTTGCGACTAGTTAGCTT
121912691	33154	NM_000341.3(SLC3A1):c.1400T>C (p.Met467Thr)	SLC3A1	May 18, 2017	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001;MedGen:CN517202	Cystinuria;not provided	germline;unknown	2	44312653	TGGGGAATCAGTATGTCAACGTGATGAACATGCTTCTTTTCACACTCCCTGGAACTCCTAT
11567847	27669	NM_021961.5(TEAD1):c.1261T>C (p.Tyr?His)	TEAD1	Oct 05, 2007	MedGen:C4016395	Sveinsson choreoretinal atrophy	germline	11	12937202	AATAGTGAACACGGAGCACAACATCATATTTACAGGCTTGTAAAGGACTGAACATGGTTAT
61616632	77556	NM_006121.3(KRT1):c.623T>C (p.Leu208Pro)	KRT1	Apr 20, 2017	Human Phenotype Ontology:HP:0007475,MedGen:C0079153,OMIM:113800,Orphanet:ORPHA312,SNOMED CT:254167000;MedGen:CN517202	Bullous ichthyosiform erythroderma;not provided	germline	12	52678725	TGAGGTTCCTGGAGCAGCAGAACCAGGTACTGCAAACAAAATGGGAGCTGCTGCAGCAGGT
62642936	15617	NM_000277.2(PAH):c.932T>C (p.Leu311Pro)	PAH	Oct 20, 2016	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102846932	CCCAATTACAGGAAATTGGCCTTGCCTCTCTGGGTGCACCTGATGAATACATTGAAAAGCT
267607506	77370	NM_002055.4(GFAP):c.247T>C (p.Tyr83His)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915240	ATGATGGAGCTCAATGACCGCTTTGCCAGCTACATCGAGAAGGTTCGCTTCCTGGAACAGC
77558292	28983	NM_020630.4(RET):c.1825T>C (p.Cys609Arg)	RET	Jun 16, 2015	MedGen:C1833921,OMIM:155240,Orphanet:ORPHA99361;na;MedGen:CN517202	Familial medullary thyroid carcinoma;MEN2A and FMTC;not provided	germline	10	43113621	CCCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCT
886037910	248683	NM_000163.4(GHR):c.559T>C (p.Trp187Arg)	GHR	-	MedGen:C1858656,OMIM:604271,OMIM:615925	Short stature, idiopathic, autosomal	unknown	5	42699943	GCACCACGCAATGCAGATATTCAGAAAGGATGGATGGTTCTGGAGTATGAACTTCAATACA
690016550	171834	NM_005211.3(CSF1R):c.2480T>C (p.Ile827Thr)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150056100	TGCCTGTGAAGTGGATGGCCCCAGAGAGCATCTTTGACTGTGTCTACACGGTTCAGAGCGA
121908845	21583	NM_003722.4(TP63):c.1646T>C (p.Ile549Thr)	TP63	Jul 01, 2004	MedGen:C0406709,OMIM:106260,SNOMED CT:55821006;MedGen:C1785148,OMIM:129400,Orphanet:ORPHA1071,SNOMED CT:7731005	Hay-Wells syndrome of ectodermal dysplasia;Rapp-Hodgkin ectodermal dysplasia syndrome	germline	3	189889478	CCCCACCTCCGTATCCCACAGATTGCAGCATTGTCAGGTGAGTCCACAGCATGTGCCCCTG
796052087	200681	NM_138413.3(HOGA1):c.875T>C (p.Met292Thr)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97611550	GCTTTGGGATCCCAGGGCTGAAGAAAATCATGGACTGGTTTGGCTACTATGGAGGCCCCTG
-1	440087	NM_025132.3(WDR19):c.746T>C (p.Phe249Ser)	WDR19	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	4	39205592	GGTATGGTGATGGCCGCATCATGATTGGTTTTTCATGTGGACATTTTGTGGTCATTTCTAC
63750218	33878	NM_000021.3(PSEN1):c.1175T>C (p.Leu392Pro)	PSEN1	Dec 23, 2010	MedGen:C1843013,OMIM:607822;MedGen:CN517202	Alzheimer disease, type 3;not provided	not provided	14	73217171	GATTGGGAGATTTCATTTTCTACAGTGTTCTGGTTGGTAAAGCCTCAGCAACAGCCAGTGG
281860277	46941	NM_005211.3(CSF1R):c.2546T>C (p.Phe849Ser)	CSF1R	Aug 30, 2012	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	not provided	5	150056034	GGTCCTATGGCATCCTCCTCTGGGAGATCTTCTCACTTGGTGAGCCACTGGGCCCACTCCA
397515483	76987	NM_001059.2(TACR3):c.766T>C (p.Tyr256His)	TACR3	Jun 01, 2010	MedGen:C3553844,OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia	germline	4	103656316	AGTTACCATATTATCGTCATTATACTGGTGTACTGTTTCCCATTGCTCATCATGGGTATTA
121913407	32628	NM_001904.3(CTNNB1):c.133T>C (p.Ser45Pro)	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:CN517202	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;not provided	somatic	3	41224645	ATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAG
74315327	17409	NM_213653.3(HJV):c.302T>C (p.Leu101Pro)	HJV	Oct 01, 2004	MedGen:C1865614,OMIM:602390	Hemochromatosis type 2A	germline	1	146019530	GGCGCACCGCCCGCACCTGCCGCGGGGACCTCGCCTTCCATTCGGCGGTACATGGCATCGA
137853023	21122	NM_001139.2(ALOX12B):c.1277T>C (p.Leu426Pro)	ALOX12B	Jan 01, 2002	MedGen:C1855792,OMIM:242100	Autosomal recessive congenital ichthyosis 2	germline	17	8076742	TCTCTTCATCCTCCTTGCTCTCCCCACAGCTCCTCATCCCCCATACCCGATACACCGTCCA
199476126	24703	m.6742T>C	MT-CO1	Dec 15, 1997	MedGen:C4016601	Sideroblastic anemia, acquired idiopathic	germline	MT	6742	ACATAGGTATGGTCTGAGCTATGATATCAATTGGCTTCCTAGGGTTTATCGTGTGAGCACA
104893883	19560	NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)	WFS1	Oct 15, 2001	MedGen:C1833021,OMIM:600965	WFS1-Related Disorders	germline	4	6302281	AGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGT
797045011	205007	NM_005572.3(LMNA):c.936+2T>C	LMNA	Apr 09, 2014	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005	Benign scapuloperoneal muscular dystrophy with cardiomyopathy	unknown	1	156135314	CTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGG
1085307241	414177	NM_001204.6(BMPR2):c.529+2T>C	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202513831	CTTATGCTTTGGATACAGAATGTTGACAGGTAAAAATTACCATTTTTTGTCCTATTGTTTA
28934873	27396	NM_000546.5(TP53):c.398T>C (p.Met133Thr)	TP53	Nov 28, 2016	MedGen:C0027672,SNOMED CT:699346009;Gene:553989,MedGen:C1835398,OMIM:151623	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome 1	germline	17	7675214	TCCTACAGTACTCCCCTGCCCTCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTGT
119103237	17169	NM_005787.5(ALG3):c.211T>C (p.Trp71Arg)	ALG3	Jul 01, 2007	MedGen:C1832736,OMIM:601110,Orphanet:ORPHA79321	Congenital disorder of glycosylation type 1D	germline	3	184245798	TCTTGTCTTCTTCCAGACACAGAGATTGACTGGAAGGCCTACATGGCCGAGGTAGAAGGCG
398123020	59388	NM_183415.2(UBE3B):c.1741+2T>C	UBE3B	May 03, 2013	MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707	Kaufman oculocerebrofacial syndrome	germline	12	109509716	GTTTAAGATGATCTGGGATGGAATTGTAGGTAAGAGAAAAGGTGTCTGCTGTTGTTTGGTT
104894606	17472	NM_153006.2(NAGS):c.1450T>C (p.Trp484Arg)	NAGS	Aug 01, 2007	MedGen:C0268543,OMIM:237310,Orphanet:ORPHA927,SNOMED CT:57119000	Hyperammonemia, type III	germline	17	44007772	CGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCT
137854548	15425	NM_000308.3(CTSA):c.1271T>C (p.Met424Thr)	CTSA	Dec 01, 1996	MedGen:CN068412	Galactosialidosis, late infantile	germline	20	45897769	ATGGAGATGTAGACATGGCCTGCAATTTCATGGGGGATGAGTGGTTTGTGGATTCCCTCAA
62508575	200225	NM_000277.2(PAH):c.2T>C (p.Met1Thr)	PAH	Jun 22, 2016	MedGen:CN517202	not provided	germline	12	102917129	GCCAGAGACCTCACTCCCGGGGAGCCAGCATGTCCACTGCGGTCCTGGAAAACCCAGGCTT
794729219	198628	NM_004333.4(BRAF):c.1783T>C (p.Phe595Leu)	BRAF	Jul 14, 2015	MedGen:CN029449,OMIM:115150,SNOMED CT:403770008;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MedGen:CN517202	Cardiofaciocutaneous syndrome 1;Malignant melanoma;not provided	germline;somatic;unknown	7	140753352	CATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTACAGTGAAATCTCGATGGA
1131691545	421312	NM_001165963.1(SCN1A):c.1662+2T>C	SCN1A	May 20, 2016	MedGen:CN517202	not provided	germline	2	166045041	ATGAAAAGAGGTACTCCTCCCCACACCAGGTATGGCACTGCTGAGTTTACTGATGCATGGT
200300612	293703	NM_147127.4(EVC2):c.3659+2T>C	EVC2	Sep 08, 2017	MedGen:CN239258;MedGen:CN517202	Ellis-van Creveld Syndrome;not provided	germline	4	5565256	ATGCTGTGGGCCCGCAAGAGAAAGCAGAGGTAATGATGGGCACCTGCTCATGTGGCTGGGG
121912470	29760	NM_002198.2(IRF1):c.31T>C (p.Trp11Arg)	IRF1	Jul 07, 1999	Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007	Non-small cell lung cancer	germline	5	132489448	ATGCCCATCACTCGGATGCGCATGAGACCCTGGCTAGAGATGCAGATTAATTCCAACCAAA
267607104	15089	NM_001199107.1(TBC1D24):c.751T>C (p.Phe251Leu)	TBC1D24	Dec 22, 2014	Gene:54119,MedGen:C0917800,OMIM:605021,Orphanet:ORPHA352582	Myoclonic epilepsy, familial infantile	germline	16	2496899	TACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGG
28938172	22103	NM_007262.4(PARK7):c.497T>C (p.Leu166Pro)	PARK7	Jul 01, 2012	MedGen:C1853445,OMIM:606324	Parkinson disease 7	germline	1	7984981	GGGGGCCTGGGACCAGCTTCGAGTTTGCGCTTGCAATTGTTGAAGCCCTGAATGGCAAGGA
61661343	77796	NM_170707.3(LMNA):c.427T>C (p.Ser143Pro)	LMNA	Jan 10, 2017	MedGen:CN517202	not provided	germline	1	156130687	CGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCA
137853194	15465	NM_178012.4(TUBB2B):c.514T>C (p.Ser172Pro)	TUBB2B	Jun 01, 2009	MedGen:C2750247,OMIM:610031	Polymicrogyria, asymmetric	germline	6	3225575	CGCATCATGAACACCTTCAGCGTCATGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGC
199476087	23273	NM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg)	BMPR1A	Sep 28, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome	germline	10	86899830	CCAAAAGCCCAGCTACGCCGGACAATAGAATGTTGTCGGACCAATTTATGTAACCAGTATT
111033741	36570	NM_000155.3(GALT):c.650T>C (p.Leu217Pro)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648419	AGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACT
121964909	15268	NM_000027.3(AGA):c.214T>C (p.Ser72Pro)	AGA	Jun 01, 1996	Human Phenotype Ontology:HP:0012068,MedGen:C0268225,OMIM:208400	Aspartylglucosaminuria	germline	4	177440340	GCCATGTGTGAGAGAGAGCAGTGTGACGGCTCTGTAGGCTTTGGAGGAAGTCCTGATGAAC
267607894	95571	NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro)	MLH1	Dec 07, 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	37050628	ATATCCTGCAGCTTGCTAACCTGCCTGATCTATACAAAGTCTTTGAGAGGTGTTAAATATG
137852952	19114	NM_012464.4(TLL1):c.713T>C (p.Val238Ala)	TLL1	Mar 01, 2009	MedGen:C2751315,OMIM:613087	Atrial septal defect 6	germline	4	166003471	TCGGCAAGAACTGTGATAAATTTGGGATTGTTGTTCATGAATTGGGTCATGTGATAGGCTT
794728934	196880	NM_198056.2(SCN5A):c.4299+6T>C	SCN5A	Sep 11, 2012	MedGen:CN517202	not provided	germline	3	38557225	GTATGCAGCTGTGGACTCCAGGGGGGTAGGTTGCCACAGTGGCTTCTTCCACCAAGTCAGG
121913457	27668	NM_007313.2(ABL1):c.1109T>C (p.Met370Thr)	ABL1	Jul 14, 2015	Human Phenotype Ontology:HP:0005506,MeSH:D015464,MedGen:C0023473,OMIM:608232,Orphanet:ORPHA521;MedGen:C4016397	Chronic myeloid leukemia;Chronic myeloid leukemia, resistant to imatinib	germline;somatic	9	130873004	TGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCA
387907172	40302	NM_024306.4(FA2H):c.707T>C (p.Phe236Ser)	FA2H	Apr 01, 2012	MedGen:C3668943,OMIM:612319,Orphanet:ORPHA329308	Spastic paraplegia 35	germline	16	74719067	GGAGCCTCATCGAGTACCTCATCCACCGCTTCCTGTTCCACATGAAGCCCCCCAGCGACAG
879254803	246008	NM_000527.4(LDLR):c.1135T>C (p.Cys379Arg)	LDLR	May 28, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111588	GTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACA
28936681	29859	NM_001025107.2(ADAR):c.2609T>C (p.Phe870Ser)	ADAR	Sep 01, 2003	MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED CT:239085000	Symmetrical dyschromatosis of extremities	germline	1	154584993	GGGTCTCCAAAAAGAACATTTTTCTTCTATTTAAGAAGCTCTGCTCCTTCCGTTACCGCAG
397515152	445526	NM_000548.4(TSC2):c.5068+2T>C	TSC2	Dec 23, 2015	MedGen:CN517202	not provided	germline	16	2087943	CAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAA
796065351	200764	NM_019074.3(DLL4):c.583T>C (p.Phe195Leu)	DLL4	-	MedGen:C0265268,Orphanet:ORPHA974,SNOMED CT:34748004	Adams-Oliver syndrome	unknown	15	40931691	TCCCGCCTGTGCAAGAAGCGCAATGACCACTTCGGCCACTATGTGTGCCAGCCAGATGGCA
121434434	21901	NM_001287.5(CLCN7):c.2297T>C (p.Leu766Pro)	CLCN7	Dec 01, 2001	MedGen:C1969106,OMIM:611490	Osteopetrosis autosomal recessive 4	germline	16	1447040	GGGTGTTCAAGCTGTTCCGGGCCCTGGGCCTGCGGCACCTGGTGGTGGTGGACAACCGCAA
281865080	33959	NM_000195.4(HPS1):c.716T>C (p.Leu239Pro)	HPS1	Oct 11, 2012	MedGen:C2931875,OMIM:203300	Hermansky-Pudlak syndrome 1	not provided	10	98430623	TGCGCCCGGCCGACCTGCTTGCCCTCATCCTCCTGGTTCAGGACCTCTACCCCAGCGAGAG
587783551	169896	NM_178151.2(DCX):c.412T>C (p.Tyr138His)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401283	TCCTCAGACAACTTCTTTAAAAAGGTGGAGTACACCAAGAATGTCAATCCCAACTGGTCTG
-1	433528	NM_001114753.2(ENG):c.41T>C (p.Leu14Pro)	ENG	Sep 14, 2016	MedGen:CN169374	not specified	germline	9	127854315	GCACGCTCCCTCTGGCTGTTGCCCTGCTGCTGGCCAGCTGCAGCCTCAGCCCCACAAGTAG
267606747	32205	NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg)	COL6A2	Jun 20, 2017	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	46126144	CACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGA
281864719	214514	NM_004304.4(ALK):c.3520T>C (p.Phe1174Leu)	ALK	May 13, 2016	Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C0027819,OMIM:256700;MedGen:C2751681,OMIM:613014	Neuroblastoma;Neuroblastoma 3	somatic	2	29220831	TGGTTACATCCCTCTCTGCTCTGCAGCAAATTCAACCACCAGAACATTGTTCGCTGCATTG
267607156	27692	NM_133378.4(TTN):c.100163T>C (p.Leu33388Pro)	TTN	Aug 23, 2012	MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609	Distal myopathy Markesbery-Griggs type	germline	2	178527121	ACATTGAAAACACAGATGACCTGACAACCCTGATCATCATGGACGTACAGAAACAAGATGG
797044572	188185	NM_002055.4(GFAP):c.239T>C (p.Phe80Ser)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44915248	GGGCAGAGATGATGGAGCTCAATGACCGCTTTGCCAGCTACATCGAGAAGGTTCGCTTCCT
587783794	170062	NM_000252.2(MTM1):c.1433T>C (p.Phe478Ser)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150660450	ATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTCAACTGTGAATCTGCTCGAGAAAG
879254535	245575	NM_000527.4(LDLR):c.463T>C (p.Cys155Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105369	GTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGT
121918463	28374	NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser)	PTPN11	Feb 02, 2017	MedGen:CN232350;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C0041409,OMIM:163950;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Early T cell progenitor acute lymphoblastic leukemia;Noonan syndrome;Noonan syndrome 1;Rasopathy;not provided	germline;somatic	12	112477651	TTATGTGACCGTGGTCTCTTTTTCTTCTAGTTGATCATACCAGGGTTGTCCTACACGATGG
1085307361	414316	NM_001204.6(BMPR2):c.1486T>C (p.Cys496Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202552788	CAGGATGCAGAGGCTCGGCTTACTGCACAGTGTGCTGAGGAAAGGATGGCTGAACTTATGA
587783574	169867	NM_178151.2(DCX):c.641T>C (p.Ile214Thr)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401054	CCCACTCTTTTGAGCAAGTCCTCACTGATATCACAGAAGCCATCAAACTGGAGACCGGGGT
60431989	18902	NM_000053.3(ATP7B):c.3443T>C (p.Ile1148Thr)	ATP7B	Sep 10, 2014	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease;Wilson disease	germline;unknown	13	51941194	ATGCAGTCCCCCAGACCTTCTCTGTGCTGATTGGAAACCGTGAGTGGCTGAGGCGCAACGG
207460001	24721	m.15197T>C	MT-CYB	Jul 01, 2001	MedGen:C0241885	Exercise intolerance	germline	MT	15197	TGAGGGGCCACAGTAATTACAAACTTACTATCCGCCATCCCATACATTGGGACAGACCTAG
61750427	226052	NM_000466.2(PEX1):c.2966T>C (p.Ile989Thr)	PEX1	Oct 01, 2015	MedGen:C1856186,OMIM:234580,Orphanet:ORPHA3220	Deafness enamel hypoplasia nail defects	germline	7	92494357	TATTGGCTGCTACTAGTCGCCCTGACTTGATTGACCCTGCCCTGCTTAGGCCTGGTCGACT
892141220	224775	NM_001257989.1(TYMP):c.938T>C (p.Leu313Pro)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526467	AAGACCCGTCCCCGCCCGCAGGGGGCGCCCTGCTCTGGCTCAGCGGACACGCGGGGACTCA
796052620	203795	NM_172107.3(KCNQ2):c.583T>C (p.Ser195Pro)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy 7;not provided	germline	20	63444766	GCCGGCTCCCAGGGCAACGTCTTTGCCACATCTGCGCTCCGGAGCCTGCGCTTCCTGCAGA
199422307	47726	NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg)	TERT	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	Aplastic anemia	not provided	5	1255401	GCTGTCCGCCATCCTCTCAGGTTTCACGCATGTGTGCTGCAGCTCCCATTTCATCAGCAAG
863225202	214301	NM_019892.5(INPP5E):c.1249T>C (p.Ser417Pro)	INPP5E	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	9	136432986	TTGGGCATCAGCTTCACCTTTTTTGGCACTTCCTTCCTCTTCATCACGTCCCACTTCACCT
137852677	24082	NM_007315.3(STAT1):c.2117T>C (p.Leu706Ser)	STAT1	Jul 13, 2001	MedGen:C4013950,OMIM:614892,Orphanet:ORPHA319595	Immunodeficiency 31a	germline	2	190975830	CTAAAGGAACTGGATATATCAAGACTGAGTTGATTTCTGTGTCTGAAGTGTAAGTGAACAC
72558427	103177	NM_000531.5(OTC):c.663+2T>C	OTC	-	MedGen:CN517202	not provided	unknown	X	38403742	GAATGCACCTTCAGGCAGCTACTCCAAAGGTAGGGAAACTTTTTGCCTTGAAACTAACCCC
869312140	214045	NM_000169.2(GLA):c.256T>C (p.Tyr86His)	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	101403924	ATGGTCTCAGAAGGCTGGAAGGATGCAGGTTATGAGTACCTCTGCATTGATGACTGTTGGA
875989841	227470	NM_001130690.2(PDE10A):c.898T>C (p.Phe300Leu)	PDE10A	Apr 29, 2016	MedGen:C4310791,OMIM:616922	Striatal degeneration, autosomal dominant 2	germline	6	165418735	AACCTGGTGAATGCCGATCGTTGTGCGCTTTTCCAGGTGGACCATAAGAACAAGGAGTTAT
202247815	47473	NM_000282.3(PCCA):c.491T>C (p.Ile164Thr)	PCCA	May 17, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	not provided	13	100209354	CTCCACAGGCAGCAGAAGATGTCGTTTTCATTGGACCTGACACACATGCTATTCAAGCCAT
879253846	224624	NM_000255.3(MUT):c.1853T>C (p.Leu618Pro)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49440309	TGGAACGTGAAGGTCGCAGACCTCGTCTTCTTGTAGCAAAAATGGGACAAGATGGCCATGA
879253820	224657	NM_000255.3(MUT):c.2T>C (p.Met1Thr)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49459465	ATTTCTATTGGGTGTTTCCATGCTCCACCATGTTAAGAGCTAAGAATCAGCTTTTTTTACT
863223425	209584	NM_001204.6(BMPR2):c.295T>C (p.Cys99Arg)	BMPR2	Oct 09, 2014	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN517202	Primary pulmonary hypertension;not provided	germline	2	202467566	GGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTC
587783816	169978	NM_000252.2(MTM1):c.260T>C (p.Leu87Pro)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150614617	AGGATTCTTCTCTAATACTTGATGTTCCTCTGGGTGTGATCTCGAGAATTGAAAAAATGGG
-1	439909	NM_000441.1(SLC26A4):c.2074T>C (p.Phe692Leu)	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791	Enlarged vestibular aqueduct	germline	7	107704370	GAATTCCAAAGAATTGATGTGAATGTGTATTTTGCATCACTTCAAGGTAAATACATATATC
118203981	16402	NM_148960.2(CLDN19):c.269T>C (p.Leu90Pro)	CLDN19	Nov 01, 2006	MedGen:C1855466,OMIM:248190,Orphanet:ORPHA2196	Hypomagnesemia 5, renal, with ocular involvement	germline	1	42738540	CGCGGGCCCTGATGGTGGTGGCCGTGCTCCTGGGCTTCGTGGCCATGGTCCTCAGCGTAGT
387906474	25607	NM_000133.3(F9):c.52T>C (p.Cys18Arg)	F9	Oct 09, 2017	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139530816	ATGGCAGAATCACCAGGCCTCATCACCATCTGCCTTTTAGGATATCTACTCAGTGCTGAAT
33917785	30377	NM_000518.4(HBB):c.275T>C (p.Leu92Pro)	HBB	Apr 26, 2017	na;MedGen:CN169374	HEMOGLOBIN SABINE;not specified	germline	11	5226617	TCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGA
28933399	27957	NM_000702.3(ATP1A2):c.2659T>C (p.Trp887Arg)	ATP1A2	Feb 01, 2003	MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine type 2	germline	1	160136665	CCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGG
121918488	28305	NM_000141.4(FGFR2):c.1024T>C (p.Cys342Arg)	FGFR2	Jan 25, 2017	MedGen:C2936791,OMIM:207410;Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008;MedGen:CN231480;MedGen:C0795998,OMIM:123150,Orphanet:ORPHA1540;MedGen:C1863356,OMIM:101600	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Crouzon syndrome;FGFR2 related craniosynostosis;Jackson-Weiss syndrome;Pfeiffer syndrome	germline	10	121517379	GTAACTTTTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTGGGATATCCT
267607987	96314	NM_000251.2(MSH2):c.2005+2T>C	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47475272	AGATAAACAGATGTTCCACATCATTACTGGTAAAAAACCTGGTTTTTGGGCTTTGTGGGGG
775092314	228197	NM_000527.4(LDLR):c.2029T>C (p.Cys677Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120411	TGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGA
192044702	205142	NM_000158.3(GBE1):c.691+2T>C	GBE1	Mar 23, 2017	MedGen:CN239402;MedGen:C0017923,OMIM:232500,SNOMED CT:11179002;MedGen:CN517202	GBE1-Related Disorders;Glycogen storage disease, type IV;not provided	germline	3	81648854	CAATGTACTACCAAGAATCAAAGGCCTTGGTAAGTAATAACTGTGATTTTTATTCAGATAA
387906382	22380	NM_005144.4(HR):c.-320T>C	HR	Oct 01, 2010	Gene:50823,MedGen:C2750815,OMIM:146550	Hypotrichosis 4	germline	8	22130707	CGCGGCGCAGCACGGAGTCTCGGCGTCCCATGGCGCAACCTACGGCCTCGGCCCAGAAGCT
587777137	106536	NM_014908.3(DOLK):c.2T>C (p.Met1Thr)	DOLK	Nov 01, 2013	MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131	Congenital disorder of glycosylation type 1M	germline	9	128947302	GGCCTCCGTGAAGCCCCAGGTCTAGAGATATGACCCGAGAGTGCCCATCTCCGGCCCCGGG
119450940	17500	NM_000026.3(ADSL):c.1312T>C (p.Ser438Pro)	ADSL	Apr 01, 1992	MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008	Adenylosuccinate lyase deficiency	germline	22	40365000	CAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTT
60118264	29608	NM_000421.3(KRT10):c.482T>C (p.Leu161Ser)	KRT10	Aug 21, 1992	Human Phenotype Ontology:HP:0007475,MedGen:C0079153,OMIM:113800,Orphanet:ORPHA312,SNOMED CT:254167000;MedGen:CN517202	Bullous ichthyosiform erythroderma;not provided	germline	17	40822104	AGAATCTGAATGACCGCCTGGCTTCCTACTTGGACAAAGTTCGGGCTCTGGAAGAATCAAA
202197769	434496	NM_002591.3(PCK1):c.134T>C (p.Ile45Thr)	PCK1	Oct 05, 2017	MedGen:C1849814,OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	germline	20	57561545	CTGAGCTGTGTCAGCCTGATCACATCCACATCTGTGACGGCTCTGAGGAGGAGAATGGGCG
796052226	204061	NM_001193416.2(DDX3X):c.1541T>C (p.Ile514Thr)	DDX3X	Jul 25, 2017	MedGen:CN517202	not provided	germline	X	41346548	GACTGGACATTTCAAATGTGAAACATGTTATCAATTTTGACTTGCCAAGTGATATTGAAGA
-1	465146	NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)	FBN1	Jul 31, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48515393	AAAGGGTTCCAGCTGGACCTCCGTGGGGAGTGTATTGGTACGTGATCCATCCTAGGTTGGC
121965086	15116	NM_000235.3(LIPA):c.599T>C (p.Leu200Pro)	LIPA	Jan 01, 1995	MedGen:C0043208,OMIM:278000,Orphanet:ORPHA275761;MedGen:CN438428,Orphanet:ORPHA75233	Lysosomal acid lipase deficiency;Wolman disease	germline	10	89225168	TGGCTAAAAGGATTAAAATGTTTTTTGCCCTGGGTCCTGTGGCTTCCGTCGCCTTCTGTAC
397509381	48187	NM_002609.3(PDGFRB):c.1973T>C (p.Leu658Pro)	PDGFRB	Jun 27, 2013	MedGen:C3554321,OMIM:615007	Basal ganglia calcification, idiopathic, 4	germline	5	150124300	TTATGTCGGAGCTGAAGATCATGAGTCACCTTGGGCCCCACCTGAACGTGGTCAACCTGTT
587780582	139909	NM_130838.1(UBE3A):c.710T>C (p.Leu237Pro)	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	de novo	15	25371404	AAAAAATTGAAACTGCCTTTCTCAATGCACTTGTATATTTGTCACCTAACGTGGAATGTGA
28941474	17432	NM_000045.3(ARG1):c.32T>C (p.Ile11Thr)	ARG1	Jan 20, 2017	MedGen:C0268548,OMIM:207800,Orphanet:ORPHA90,SNOMED CT:23501004	Arginase deficiency	germline	6	131573314	TGAGCGCCAAGTCCAGAACCATAGGGATTATTGGAGCTCCTTTCTCAAAGGGACAGGTAAG
199422114	26925	NM_001061.4(TBXAS1):c.1463T>C (p.Leu488Pro)	TBXAS1	Mar 01, 2008	MedGen:C4016444	Ghosal hematodiaphyseal syndrome	germline	7	140017766	GGAGCTGCCTCGGGGTGCGTCTAGGGCTGCTTGAGGTCAAGTTGACACTGCTCCACGTGCT
121908846	21584	NM_003722.4(TP63):c.1738T>C (p.Ser580Pro)	TP63	Jun 01, 2003	MedGen:C1785148,OMIM:129400,Orphanet:ORPHA1071,SNOMED CT:7731005	Rapp-Hodgkin ectodermal dysplasia syndrome	germline	3	189890874	CTGACCACCATCTATCAGATTGAGCATTACTCCATGGATGTAAGTAACTGTTAGACTTTTC
-1	487017	NM_000551.3(VHL):c.484T>C (p.Cys162Arg)	VHL	Aug 31, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10149807	GCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGC
397515411	48284	NM_006383.3(CIB2):c.272T>C (p.Phe91Ser)	CIB2	Nov 06, 2012	MedGen:C1836199,OMIM:609439	Deafness, autosomal recessive 48	germline	15	78109309	ATGGTGAGGGGAACCTCACTTTCAACGACTTTGTGGACATGTTTTCCGTGCTCTGCGAGTC
80338747	24489	NM_004525.2(LRP2):c.7564T>C (p.Tyr2522His)	LRP2	Apr 22, 2016	MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143;MedGen:CN517202	Donnai Barrow syndrome;not provided	germline	2	169205630	ATTGACTCCTTTTGTATGACTAGGTACCTGTACTGGGCTGACTGGGATACACATGCCAAAA
138527651	229709	NM_138691.2(TMC1):c.1939T>C (p.Ser647Pro)	TMC1	Feb 19, 2016	MedGen:C1832978,OMIM:600974;MedGen:C1832978,OMIM:600974;MedGen:C1832978,OMIM:600974;MedGen:C1832978,OMIM:600974;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 7;Deafness, autosomal recessive 7;Deafness, autosomal recessive 7;Deafness, autosomal recessive 7;Nonsyndromic hearing loss and deafness	germline	9	72821017	CTGGGCATGCTACTGCTCATCCTCTTCCTGTCCACAATGCCTGTCTTGTACATGATCGTGT
387906809	39151	NM_000287.3(PEX6):c.1601T>C (p.Leu534Pro)	PEX6	Sep 21, 2011	MedGen:C3553937,OMIM:614863	Peroxisome biogenesis disorder 4B	germline	6	42968377	CAGTCCTGTTGCTCACAGCTGTGGACCTTCTGGGCCGGGACCGTGATGGGCTGGGTGAGGA
104893912	31194	NM_001018077.1(NR3C1):c.2318T>C (p.Leu773Pro)	NR3C1	Jun 01, 2005	MedGen:C1841972,OMIM:615962,Orphanet:ORPHA786	Glucocorticoid resistance, generalized	germline	5	143281905	AATATTCAAATGGAAATATCAAAAAACTTCTGTTTCATCAAAAGTGACTGCCTTAATAAGA
1131692247	424385	NM_001080483.2(MYMK):c.553T>C (p.Cys185Arg)	MYMK	Jul 19, 2017	MedGen:C1850746,OMIM:254940,Orphanet:ORPHA1358,SNOMED CT:429753001	Congenital nonprogressive myopathy with Moebius and Robin sequences	germline	9	133514749	GACTACACTTATGTCCACAGCTTCTACCACTGTGCCCTGGCTATGTCCTTTGTTCTGCTGC
121909394	16355	NM_001174089.1(SLC4A11):c.2480T>C (p.Leu827Pro)	SLC4A11	May 01, 2007	MedGen:C1857572,OMIM:217400,Orphanet:ORPHA1490	Corneal dystrophy and perceptive deafness	germline	20	3228337	CGGGCCTGCAGGTGCTTCAGCTGCTGCTGCTGTGTGCCTTCGGCATGAGCTCCCTGCCCTA
63750414	426818	NM_001171.5(ABCC6):c.4004T>C (p.Leu1335Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154910	TCGACGGGGTCCCCATTGCCCACGTGGGGCTGCACACACTGCGCTCCAGGATCAGCATCAT
66469337	102992	NM_000531.5(OTC):c.1033T>C (p.Tyr345His)	OTC	-	MedGen:CN517202	not provided	unknown	X	38421050	CAGGCTGTCATGGTGTCCCTGCTGACAGATTACTCACCTCAGCTCCAGAAGCCTAAATTTT
483352920	94565	NM_014139.2(SCN11A):c.2432T>C (p.Leu811Pro)	SCN11A	Nov 01, 2013	MedGen:C3809882,OMIM:615548,Orphanet:ORPHA391397	Neuropathy, hereditary sensory and autonomic, type VII	germline	3	38894936	AGGTGCTCAACCTCTTCATTGCCTTACTGCTCAATTCCTTTAGCAATGAGGAAAGAAATGG
587784032	168504	NM_133433.3(NIPBL):c.7062+2T>C	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37051888	TAGACAAAAAATATGCTGGATTCATTCATGTATGTATTTTAACATTTTATAACCTAAATTT
397514465	38991	NM_001165899.1(PDE4D):c.494T>C (p.Phe165Ser)	PDE4D	Apr 06, 2012	MedGen:C3553250,OMIM:614613	Acrodysostosis 2, with or without hormone resistance	germline	5	59193507	GACACGGAGATGACTTGATTGTGACTCCATTTGCTCAGGTAAGCACAGCTTGGTGAATGGG
397515468	76947	NM_199355.3(ADAMTS18):c.605T>C (p.Leu202Pro)	ADAMTS18	Sep 01, 2013	MedGen:C3809567,OMIM:615458,Orphanet:ORPHA369970	Microcornea, myopic chorioretinal atrophy, and telecanthus	germline	16	77367614	GCTCCCCTGCGGGTCACCATCCTCACGTACTGTACAAAAGGACAGCAGAGGAGAAGATCCA
730882253	181365	NM_006888.4(CALM1):c.268T>C (p.Phe90Leu)	CALM1	Jan 28, 2014	MedGen:C4015671,OMIM:616247	Long QT syndrome 14	germline	14	90403951	ACAGATAGTGAAGAAGAAATCCGTGAGGCATTCCGAGTCTTTGACAAGGTAATCCAGCATC
753960624	481360	NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro)	DHCR7	Nov 08, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	germline	11	71441383	GCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTTGCAAACGCTCATCTCCTGTCCTG
796052130	201007	NM_018359.3(UFSP2):c.868T>C (p.Tyr290His)	UFSP2	Sep 21, 2015	Gene:50947,MedGen:C1840572,OMIM:142669,Orphanet:ORPHA2114	Hip dysplasia, beukes type	germline	4	185408399	GTGGTCCAGGGCATATATGGCTATCATCATTATATGCAGGATCGCATAGATGACAATGGCT
119103227	16946	NM_000411.6(HLCS):c.710T>C (p.Leu237Pro)	HLCS	Jul 22, 2016	MedGen:C0268581,OMIM:253270,Orphanet:ORPHA79242	Holocarboxylase synthetase deficiency	germline;unknown	21	36936735	AAGACCTGTACCAGAAGTTCATGGCCTATCTTTCTCAGGGAGGGAAGGTGTTGGGCCTGTC
587777382	136544	NM_017890.4(VPS13B):c.11119+2T>C	VPS13B	Feb 01, 2014	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005	Cohen syndrome	germline	8	99859482	CACATCGTTTGTAAAGCACATCTCCAAAGGTAGCGGGTTCCGTTCCTTGTAATAATGCCTT
180177305	200622	NM_012203.1(GRHPR):c.203T>C (p.Leu68Pro)	GRHPR	Nov 27, 2014	MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria, type II	germline	9	37424964	TCCTCTCCGACCACGTGGACAAGAGGATCCTGGATGCTGCAGGTGCACACTGGGTGGGCAG
137852495	25100	NM_000194.2(HPRT1):c.170T>C (p.Met57Thr)	HPRT1	May 12, 2011	na;MedGen:C1845893	HPRT MONTREAL;Lesch-nyhan syndrome, neurologic variant	germline	X	134475216	AACGTCTTGCTCGAGATGTGATGAAGGAGATGGGAGGCCATCACATTGTAGCCCTCTGTGT
28936695	22966	NM_000223.3(KRT12):c.386T>C (p.Met129Thr)	KRT12	Jan 01, 2000	Human Phenotype Ontology:HP:0007755,MedGen:C0339277,OMIM:122100,Orphanet:ORPHA98954,SNOMED CT:1674008;MedGen:CN517202	Meesman's corneal dystrophy;not provided	germline	17	40866801	GCCTTCTTTCTGGATCAGAAAAAGAAACTATGCAAAATCTTAATGATAGATTAGCTTCCTA
193929364	34019	NM_000352.4(ABCC8):c.404T>C (p.Leu135Pro)	ABCC8	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	17470109	ACAACATCGAGACTTCCAACTTCCCCAAGCTGCTAATTGGTAGGTGAGGTGTAGGAGGGAG
104894589	20910	NM_004870.3(MPDU1):c.221T>C (p.Leu74Ser)	MPDU1	Dec 01, 2001	MedGen:C1836669,OMIM:609180,Orphanet:ORPHA79323	Congenital disorder of glycosylation type 1F	germline	17	7585997	AAATCCTGGGAGCCAAGAGTGCTGAAGGGTTGAGTCTCCAGTCTGTAATGCTGGAGCTAGT
-1	39780	NM_018238.3(AGK):c.141+2T>C	AGK	Jan 25, 2012	MedGen:C1859317,OMIM:212350,Orphanet:ORPHA1369	Cataract and cardiomyopathy	germline	7	141593187	TAAGGAGAGCAGCCTGTCAAGAAGCTCAGGTAATACTACTTAATGTGATAAAATTAAGCCC
121917773	27302	NM_003361.3(UMOD):c.943T>C (p.Cys315Arg)	UMOD	Dec 15, 2003	MedGen:C1835934,OMIM:609886	Glomerulocystic kidney disease with hyperuricemia and isosthenuria	germline	16	20348253	GACTGCAAATCGAATAATGGCAGATGGCACTGCCAGTGCAAACAGGACTTCAACATCACTG
80357164	68819	NM_007294.3(BRCA1):c.115T>C (p.Cys39Arg)	BRCA1	May 31, 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	43115745	GAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAGTAAGTTTGAA
137852611	24499	NM_000211.4(ITGB2):c.446T>C (p.Leu149Pro)	ITGB2	Jul 01, 1990	MedGen:C0272187	Leukocyte adhesion deficiency	germline	21	44903418	TGCTTGATGACCTCAGGAATGTCAAGAAGCTAGGTGGCGACCTGCTCCGGGCCCTCAACGA
121917703	28876	NM_005247.2(FGF3):c.466T>C (p.Ser156Pro)	FGF3	Sep 20, 2012	MedGen:C1853144,OMIM:610706,Orphanet:ORPHA90024	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	germline	11	69810559	CAGCCCAGCGCCGAGAGACTGTGGTACGTGTCTGTGAACGGCAAGGGCCGGCCCCGCAGGG
886042951	269041	NM_003494.3(DYSF):c.3031+2T>C	DYSF	Nov 19, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71570336	AGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCAT
200004220	98360	NM_000143.3(FH):c.1255T>C (p.Ser419Pro)	FH	Aug 08, 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	241500572	ACTCACTCAAAGATTAAAAATGTGTTACACTCAGCCAGGCTGCTGGGGGATGCTTCAGTTT
137853304	27667	NM_007313.2(ABL1):c.988T>C (p.Phe330Leu)	ABL1	Aug 01, 2002	MedGen:C4016397	Chronic myeloid leukemia, resistant to imatinib	germline	9	130872883	TTGGCAGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACG
-1	482194	NM_202001.2(ERCC1):c.525+2T>C	ERCC1	Jan 29, 2018	MedGen:CN517202	not provided	germline	19	45419096	TGCGGGTCCTGCTTGTCCAGGTGGATGTGGTAAGCAGGGGCTGCTCCCTAGCCAGCCTCAC
879254482	245501	NM_000527.4(LDLR):c.346T>C (p.Cys116Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105252	CCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGT
67367843	99128	NM_000531.5(OTC):c.540+2T>C	OTC	Nov 13, 2012	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38401430	AGATCCTGGCTGATTACCTCACGCTCCAGGTTGGTTTATTTATTTGTCTTACAAAAGAGCA
786201023	181560	NM_017534.5(MYH2):c.5609T>C (p.Leu1870Pro)	MYH2	May 01, 2013	MedGen:C1854106,OMIM:605637	Inclusion body myopathy 3	germline	17	10523154	CGGAAGAAGATAGAAAGAATATTCTCAGGCTTCAAGATTTGGTAGATAAACTTCAGGCAAA
-1	440159	NM_001080463.1(DYNC2H1):c.6562T>C (p.Phe2188Leu)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103184980	CATCTACATGGTTGCAGAGATCATGACGAATTCATTATTAATCTCATAAGGGGACTTGGTG
606231436	170984	NM_152296.4(ATP1A3):c.2270T>C (p.Leu757Pro)	ATP1A3	May 04, 2014	MedGen:C3553788,OMIM:614820	Alternating hemiplegia of childhood 2	de novo	19	41970536	GCTCTGAGCCTGCCTGTGCCACAGGCCGCCTGATCTTCGACAACCTAAAGAAGTCCATTGC
-1	442169	NM_000435.2(NOTCH3):c.436T>C (p.Cys146Arg)	NOTCH3	Apr 04, 2014	MedGen:CN517202	not provided	germline	19	15192203	GTGGGGCCCGATGGACGCTTCCTCTGCTCCTGCCCACCTGGCTACCAGGGCCGCAGCTGCC
121913461	27666	NM_007313.2(ABL1):c.814T>C (p.Tyr272His)	ABL1	Jul 14, 2015	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	130862970	ACCATGAAGCACAAGCTGGGCGGGGGCCAGTACGGGGAGGTGTACGAGGGCGTGTGGAAGA
794728272	197602	NM_000138.4(FBN1):c.7531T>C (p.Cys2511Arg)	FBN1	Jun 20, 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	48421991	GTTAACACCATTGGCGGCTTCACATGCAAATGTCCTCCCGGATTTACCCAACACCATACGT
121434471	24646	m.4291T>C	MT-TI	Nov 12, 2004	MedGen:C1839021,OMIM:500005	Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial	germline	MT	4291	TAAGAAATATGTCTGATAAAAGAGTTACTTTGATAGAGTAAATAATAGGAGCTTAAACCCC
137852407	25238	NM_000132.3(F8):c.980T>C (p.Leu327Pro)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969360	CACTCTTGATGGACCTTGGACAGTTTCTACTGTTTTGTCATATCTCTTCCCACCAACATGG
397508435	68236	NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro)	CFTR	Jun 13, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117603654	ACATTTACGTGGGAGTAGCCGACACTTTGCTTGCTATGGGATTCTTCAGAGGTCTACCACT
-1	482245	NM_171998.3(RAB39B):c.2T>C (p.Met1Thr)	RAB39B	Jul 18, 2017	MedGen:CN517202	not provided	germline	X	155264287	GGGCCAAGGAGACCTGCAGAGCCGCGGCCATGGAGGCCATCTGGCTGTACCAGTTCCGGCT
886044860	271086	NM_000169.2(GLA):c.999+2T>C	GLA	Mar 21, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398368	TGGGCAAGCAAGGGTACCAGCTTAGACAGGTAAATAAGAGTATATATTTTAAGATGGCTTT
879254749	362699	NM_000527.4(LDLR):c.985T>C (p.Cys329Arg)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11110696	TTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCC
121918424	31094	NM_021957.3(GYS2):c.1447T>C (p.Ser483Pro)	GYS2	Aug 01, 1998	MedGen:C1855861,OMIM:240600,Orphanet:ORPHA2089	Hypoglycemia with deficiency of glycogen synthetase in the liver	germline	12	21546446	TTTTAGGTGATTTTGCACCCAGAGTTTCTATCCTCCACCAGTCCCTTACTACCCATGGACT
76723693	25427	NM_000402.4(G6PD):c.1058T>C (p.Leu353Pro)	G6PD	Feb 10, 2014	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;MedGen:C0017758,Orphanet:ORPHA362	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Glucose 6 phosphate dehydrogenase deficiency	germline	X	154533025	ATGGAGAGGGCGAGGCCACCAAAGGGTACCTGGACGACCCCACGGTGCCCCGCGGGTCCAC
1114167276	185675	NM_001128430.1(SMARCAD1):c.1281+666T>C	SMARCAD1	Dec 01, 2014	MedGen:C1851080,OMIM:136000	Adermatoglyphia	germline	4	94253673	CGTTAGGTGAAGGGAAGGCATAAGCACTGGTAAGTACACTTTGCATGATCATTTTCTGGAA
869312984	226850	NM_015135.2(NUP205):c.5984T>C (p.Phe1995Ser)	NUP205	Apr 06, 2016	MedGen:C4225165,OMIM:616893	Nephrotic syndrome, type 13	germline	7	135648501	TATATTCAAAAGTTCGATCTCGATATAGTTTCATACAGGCTCTTGTCAGACGTATCCGTGG
121913668	28920	NM_001127500.2(MET):c.3446T>C (p.Met1149Thr)	MET	Nov 18, 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	116778827	TTTCCCAATTTCTGACCGAGGGAATCATCATGAAAGATTTTAGTCATCCCAATGTCCTCTC
759086770	440054	NM_024753.4(TTC21B):c.3605T>C (p.Leu1202Pro)	TTC21B	Jun 01, 2017	MedGen:C0432198,OMIM:269860,SNOMED CT:254052001	Type IV short rib polydactyly syndrome	unknown	2	165883873	ATGCTGAAGAGTTTGAGAAGAGTTGGCTGCTACTTGCTGATATTTACATTCAATCAGCAAA
111033683	45907	NM_000155.3(GALT):c.386T>C (p.Met129Thr)	GALT	Sep 12, 2014	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34647840	CTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCT
-1	428915	NM_001032221.3(STXBP1):c.87+2T>C	STXBP1	Apr 16, 2013	MedGen:C2677326,OMIM:612164	Early infantile epileptic encephalopathy 4	germline	9	127651654	AGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGAGTAGAAAGTACAGTTAATGGGCTTAAGG
122467175	26458	NM_014009.3(FOXP3):c.1099T>C (p.Phe367Leu)	FOXP3	Oct 01, 2007	MedGen:C0342288,OMIM:304790,Orphanet:ORPHA37042,SNOMED CT:237618001	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	germline	X	49251711	CAGCGGACACTCAATGAGATCTACCACTGGTTCACACGCATGTTTGCCTTCTTCAGAAACC
72558441	103210	NM_000531.5(OTC):c.779T>C (p.Leu260Ser)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408937	CATTGGAAGCAGCGCATGGAGGCAATGTATTAATTACAGACACTTGGATAAGCATGGGACA
119103234	17200	NM_213599.2(ANO5):c.1066T>C (p.Cys356Arg)	ANO5	Nov 29, 2012	MedGen:C1833736,OMIM:166260,Orphanet:ORPHA53697;MedGen:CN517202	Gnathodiaphyseal dysplasia;not provided	germline;unknown	11	22250793	ATTGGTGGTCAGATGATCATGTGCCCACTCTGTGATCAAGTGTGTGATTATTGGAGACTAA
690016563	171844	NM_005211.3(CSF1R):c.1745T>C (p.Leu582Pro)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150061731	ACGAGAAGTGGGAGTTCCCCCGGAACAACCTGCAGTTTGGTGAGATGGCAGCTCATCACTC
387907240	44240	NM_024110.4(CARD14):c.467T>C (p.Leu156Pro)	CARD14	Jul 13, 2012	MedGen:C0032027,OMIM:173200,Orphanet:ORPHA2897,SNOMED CT:3755001	Pityriasis rubra pilaris	germline	17	80184030	AGGAGGTGCTGCTGCGGCGGTGCCAGCAGCTGCAGGAGCACCTGGGCCTGGCCGAGACCCG
429358	32903	NM_000041.3(APOE):c.388T>C (p.Cys130Arg)	APOE	Jan 10, 2018	na;na;MedGen:C1863051,OMIM:104310;MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED CT:398796005;MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED CT:398796005;MedGen:CN517202	APOE4 VARIANT;APOE4(-)-FREIBURG;Alzheimer disease 2;Familial type 3 hyperlipoproteinemia;Familial type 3 hyperlipoproteinemia;not provided	germline	19	44908684	GCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGG
886039786	260546	NM_012343.3(NNT):c.644T>C (p.Phe215Ser)	NNT	Oct 11, 2016	MedGen:C3553587,OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	germline	5	43619076	TCCTAGCAGCAAATCATTTTGGACGTTTTTTTACTGGTCAGATCACAGCTGCTGGAAAAGT
869025322	223715	NM_001042616.2(PIGY):c.137T>C (p.Leu46Pro)	PIGY	Jan 04, 2018	MedGen:C4225201,OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	germline	4	88521653	GCACAGCCAGCCTTTGCTTTTACAGCCTGCTCTTGCCTATTACCATACCAGTGTATGTATT
-1	432138	NM_000444.5(PHEX):c.707T>C (p.Leu236Pro)	PHEX	Nov 06, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22090472	CACTCTCCCTGGCCGTGAGGGAAGACTACCTTGATAACAGTACAGAAGCCAAGTCTGTAAG
143962150	265264	NM_000023.3(SGCA):c.518T>C (p.Leu173Pro)	SGCA	Dec 16, 2015	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle muscular dystrophy, type 2D	germline	17	50168506	GACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGG
132630283	26119	NM_001128834.2(PLP1):c.671T>C (p.Leu224Pro)	PLP1	Oct 01, 1992	Human Phenotype Ontology:HP:0003269,MedGen:C0205711,OMIM:312080,Orphanet:ORPHA702,SNOMED CT:64855000	Pelizaeus-Merzbacher disease	germline	X	103788485	CTTTCCCTGGCAAGGTTTGTGGCTCCAACCTTCTGTCCATCTGCAAAACAGCTGAGGTGAG
1057517896	360621	NM_000444.5(PHEX):c.1173+2T>C	PHEX	Oct 20, 2016	MedGen:CN517202	not provided	germline	X	22111562	TTCAGTATAGATGGCTGGAATTCTCAAGGGTAAGTTTAAGAAGATTGCAGTGTTACATCGC
121908254	15489	NM_133459.3(CCBE1):c.520T>C (p.Cys174Arg)	CCBE1	Dec 01, 2009	MedGen:C0340834,OMIM:235510,SNOMED CT:234146006	Hennekam lymphangiectasia-lymphedema syndrome	germline	18	59466772	GGCTACATCCGGGAAGATGATGGGAAGACATGTACCAGGGGAGACAAATATCCCAATGACA
796053181	201300	NM_021007.2(SCN2A):c.1271T>C (p.Val424Ala)	SCN2A	Nov 20, 2012	MedGen:CN517202	not provided	germline	2	165313996	TCTATCTAATAAATTTGATCTTGGCTGTGGTGGCCATGGCCTATGAGGAACAGAATCAGGC
28999113	33335	NM_000485.2(APRT):c.407T>C (p.Met136Thr)	APRT	Jun 18, 2015	MedGen:C0268121;MedGen:C0268120,OMIM:614723	APRT deficiency, Japanese type;Adenine phosphoribosyltransferase deficiency	germline	16	88809834	GGGACCTCACCCTCCCATCCCCAGGAACCATGAACGCTGCCTGTGAGCTGCTGGGCCGCCT
121918240	16461	NM_015506.2(MMACHC):c.347T>C (p.Leu116Pro)	MMACHC	Jan 12, 2018	MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26	Methylmalonic acidemia with homocystinuria	germline	1	45508282	AGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGC
121909506	33408	NM_000751.2(CHRND):c.283T>C (p.Phe95Leu)	CHRND	Feb 01, 2008	MedGen:C1854678,OMIM:253290,Orphanet:ORPHA33108,SNOMED CT:60192008	Lethal multiple pterygium syndrome	germline	2	232528301	GACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTCCTGCGCCTCCCCC
121909051	22125	NM_005025.4(SERPINI1):c.145T>C (p.Ser49Pro)	SERPINI1	Jul 02, 2004	MedGen:C1858680,OMIM:604218,Orphanet:ORPHA85110	Encephalopathy, familial, with neuroserpin inclusion bodies	germline	3	167789273	GCCACTGGTGAAGATGAAAATATTCTCTTCTCTCCATTGAGTATTGCTCTTGCAATGGGAA
75193786	15675	NM_000277.2(PAH):c.194T>C (p.Ile65Thr)	PAH	Jun 30, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;paternal;unknown	12	102894893	TCTAGGAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGA
587777390	136557	NM_005026.4(PIK3CD):c.1246T>C (p.Cys416Arg)	PIK3CD	Apr 01, 2014	MedGen:C3714976,OMIM:615513,Orphanet:ORPHA397596	Immunodeficiency 14	germline	1	9719924	GTCCTCACCTGCCCTGTCCTTCTGCAGGACTGCCCCATTGCCTGGGCCAACCTCATGCTGT
104893717	23392	NM_000388.3(CASR):c.38T>C (p.Leu13Pro)	CASR	Jun 15, 2005	MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007	Hypocalciuric hypercalcemia, familial, type 1	germline	3	122254227	TTTATAGCTGCTGCTGGGTCCTCTTGGCACTCACCTGGCACACCTCTGCCTACGGGCCAGA
-1	432199	NM_000444.5(PHEX):c.2245T>C (p.Trp749Arg)	PHEX	Oct 31, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22247948	ATGAACAGAGGCATGGACTCCTGCCGACTCTGGTAGCTGGGACGCTGGTTTATGGCATCCT
1085307121	404691	NM_177965.3(C8orf37):c.155+2T>C	C8orf37	Mar 28, 2017	MedGen:C3281045,OMIM:614500	Cone-rod dystrophy 16	germline	8	95269033	AACCAAGCCAAGGCGAAAGAGACGCTCAGGTTAACCGGGCGGGAGGGGTGGACTGTTCTGG
875989840	227469	NM_001130690.2(PDE10A):c.1000T>C (p.Phe334Leu)	PDE10A	Apr 29, 2016	MedGen:C4310791,OMIM:616922	Striatal degeneration, autosomal dominant 2	germline	6	165416280	TAGCATGTCCTTCTCTTTTACATATGCAGATTTTCAATTGAGAAAGGAATTGCTGGCCAAG
121908914	21399	NM_002977.3(SCN9A):c.4382T>C (p.Ile1461Thr)	SCN9A	Dec 07, 2006	MedGen:C1833661,OMIM:167400,Orphanet:ORPHA46348	Paroxysmal extreme pain disorder	germline	2	166204448	GTTTGTTTCTTTACCTTGGAGGTCAAGACATCTTTATGACAGAAGAACAGAAGAAATACTA
267606656	20239	NM_054027.4(ANKH):c.1015T>C (p.Cys339Arg)	ANKH	Apr 01, 2010	MedGen:C1852502,OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	germline	5	14716832	AACCCTGTTTGATGTCTTTCTCCCCAGCTCTGTTTCGTGATGTTTTGGACACCCAACGTGT
-1	424461	NM_171825.2(CAMK2A):c.293T>C (p.Phe98Ser)	CAMK2A	Dec 07, 2017	Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:CN677078,OMIM:617798	Intellectual disability;MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	de novo;germline	5	150256811	GTCTCCCCAGGGTCACTGGTGGGGAACTGTTTGAAGATATCGTGGCCCGGGAGTATTACAG
111033552	32516	NM_000493.3(COL10A1):c.2011T>C (p.Ser671Pro)	COL10A1	Dec 01, 1996	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	germline	6	116120105	GGCCTATACTCCTCTGAGTATGTCCACTCCTCTTTCTCAGGATTCCTAGTGGCTCCAATGT
1114167285	243995	NM_001145901.1(SARS2):c.1048T>C (p.Phe350Leu)	SARS2	Jan 10, 2016	MedGen:C3151209,OMIM:613845,Orphanet:ORPHA363694	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	inherited	19	38917929	GAACCCCGGGGGCTGTATCGAGTACACCACTTCACCAAGGCTGGTGTCGCTGGGACTAAAC
1057517110	358383	NM_000303.2(PMM2):c.355T>C (p.Phe119Leu)	PMM2	Aug 03, 2016	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002	Carbohydrate-deficient glycoprotein syndrome type I	unknown	16	8811086	CTCTGTCACCCTTTCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACG
-1	432170	NM_000444.5(PHEX):c.1706T>C (p.Leu569Pro)	PHEX	Nov 06, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22219041	TCCAAATTATGTATTAATGCCATAGATCTCTGAGTTATGGTGCTATAGGAGTAATTGTCGG
121908144	19427	NM_057176.2(BSND):c.35T>C (p.Ile12Thr)	BSND	Aug 01, 2009	MedGen:C2748440	Sensorineural deafness with mild renal dysfunction	germline	1	54999221	CTGACGAGAAGACCTTCCGGATCGGCTTCATTGTGCTGGGGCTTTTCCTGCTGGCCCTCGG
869025584	224716	NM_000203.4(IDUA):c.653T>C (p.Leu218Pro)	IDUA	Feb 11, 2016	MedGen:C0023786,Orphanet:ORPHA579	Mucopolysaccharidosis type I	germline	4	1001742	GTCTGCGCGCCGCCAGCCCCGCCCTGCGGCTGGGAGGCCCCGGCGACTCCTTCCACACCCC
748949603	186786	NM_005476.5(GNE):c.1760T>C (p.Ile587Thr)	GNE	Jun 01, 2016	MedGen:C1833373,OMIM:600737;MedGen:C1853926,OMIM:605820	Inclusion body myopathy 2;Nonaka myopathy	germline;unknown	9	36219894	CTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGGCCTTGCA
119456967	17667	NM_001037633.1(SIL1):c.1370T>C (p.Leu457Pro)	SIL1	Aug 01, 2008	MedGen:C0024814,OMIM:248800,Orphanet:ORPHA559,SNOMED CT:80734006	Marinesco-Sjögren syndrome	germline	5	138947133	AGGAGCTGCTGGGCTCTGTCAACAGCTTGCTGAAGGAGCTGAGATGAGGCCCCACACCAGG
1057519275	361765	NM_005477.2(HCN4):c.1441T>C (p.Tyr481His)	HCN4	Jan 12, 2017	MedGen:C1834144,OMIM:163800	Sick sinus syndrome 2, autosomal dominant	germline	15	73329722	AAGGCCATGAGCCACATGCTGTGCATCGGCTACGGGCGGCAGGCGCCCGTGGGCATGTCCG
45517398	58514	NM_000548.4(TSC2):c.5150T>C (p.Leu1717Pro)	TSC2	Feb 21, 2014	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2088129	ACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAG
104894737	26184	NM_182680.1(AMELX):c.2T>C (p.Met1Thr)	AMELX	May 01, 2004	MedGen:C1845052,OMIM:301200	Amelogenesis imperfecta, type 1E	germline	X	11294790	GTTGACTTACATTTCAGAACCATCAAGAAATGGGGACCTGGATTTTATTTGCCTGCCTCCT
137853934	34355	NM_013246.2(CLCF1):c.46T>C (p.Cys16Arg)	CLCF1	Mar 03, 2011	MedGen:C1853198,OMIM:610313	Cold-induced sweating syndrome 2	not provided	11	67367597	GGGGACTCGTGGGGGATGTTAGCGTGCCTGTGCACGGTGCTCTGGCACCTCCCTGCAGTGC
60271599	77107	NM_000424.3(KRT5):c.1400T>C (p.Ile467Thr)	KRT5	Jan 10, 2017	MedGen:CN517202	not provided	germline	12	52516676	TGAACACCAAGCTGGCCCTGGACGTGGAGATCGCCACTTACCGCAAGCTGCTGGAGGGCGA
397514471	39198	NM_006225.3(PLCD1):c.562T>C (p.Cys188Arg)	PLCD1	Jun 10, 2011	MedGen:C0544855,OMIM:151600,Orphanet:ORPHA2387	Leukonychia totalis	germline	3	38011442	GCCCACTCGGCTGTCCTGGCTCTGCAGGAGTGTGACCACTCCCAGACAGACTCCCTGGAGG
137852819	26574	NM_003688.3(CASK):c.2740T>C (p.Trp914Arg)	CASK	May 01, 2009	MedGen:C1845546,OMIM:300422	FG syndrome 4	germline	X	41520446	GCTGTTGAGCTCGTGTGCACAGCCCCACAGTGGGTCCCTGTCTCCTGGGTCTATTAGGCCT
111033603	30682	NM_000517.4(HBA2):c.2T>C (p.Met1Thr)	HBA2	Mar 03, 2017	MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001;MedGen:CN169374	alpha Thalassemia;not specified	germline	16	172914	GGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGT
1057519506	362276	NM_003156.3(STIM1):c.221T>C (p.Leu74Pro)	STIM1	Feb 02, 2017	MedGen:C2748557,OMIM:612783,Orphanet:ORPHA317430	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	germline	11	3967633	GCTTCGAGGCAGTCCGTAACATCCACAAACTGATGGACGATGATGCCAATGGTGATGTGGA
137854615	24436	NM_000335.4(SCN5A):c.5380T>C (p.Tyr1794His)	SCN5A	Aug 17, 2001	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144	Brugada syndrome;Brugada syndrome 1	germline	3	38550989	CCCCTGAGTGAGGACGACTTCGATATGTTCTATGAGATCTGGGAGAAATTTGACCCAGAGG
202142867	487358	NM_000048.3(ASL):c.299T>C (p.Ile100Thr)	ASL	Sep 09, 2016	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	germline	7	66082887	CCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGG
782753385	190081	NM_032790.3(ORAI1):c.581T>C (p.Leu194Pro)	ORAI1	Jun 08, 2015	MedGen:C2748568,OMIM:612782,Orphanet:ORPHA317428	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	germline	12	121641318	CGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAA
-1	437705	NM_020638.2(FGF23):c.385T>C (p.Ser129Pro)	FGF23	Sep 20, 2017	MedGen:C1876187,OMIM:211900,OMIM:610233,Orphanet:ORPHA306661	Tumoral calcinosis, familial, hyperphosphatemic	inherited	12	4370714	ACGCTGGAAAACGGGTACGACGTCTACCACTCTCCTCAGTATCACTTCCTGGTCAGTCTGG
121907974	18968	NM_000520.5(HEXA):c.632T>C (p.Phe211Ser)	HEXA	Jan 01, 1993	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72351173	TCCACTGGCATCTGGTAGATGATCCTTCCTTCCCATATGAGAGCTTCACTTTTCCAGAGCT
28941777	18541	NM_024426.4(WT1):c.1351T>C (p.Phe451Leu)	WT1	Apr 01, 1998	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002	Diffuse mesangial sclerosis	germline	11	32392053	ACCTTCTCTGTCCATTTAGGTGTGAAACCATTCCAGTGTAAAACTTGTCAGCGAAAGTTCT
121908864	21475	NM_000369.2(TSHR):c.1358T>C (p.Met453Thr)	TSHR	Jun 01, 1996	MedGen:C1836706,OMIM:609152,Orphanet:ORPHA424	Hyperthyroidism, nonautoimmune	germline	14	81143416	ACTACAAACTGAACGTCCCCCGCTTTCTCATGTGCAACCTGGCCTTTGCGGATTTCTGCAT
111033545	32505	NM_000493.3(COL10A1):c.1841T>C (p.Leu614Pro)	COL10A1	Feb 01, 1994	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	germline	6	116120275	ATGTGAAAGGGACTCATGTTTGGGTAGGCCTGTATAAGAATGGCACCCCTGTAATGTACAC
137853249	29955	NM_033500.2(HK1):c.1550T>C (p.Leu517Ser)	HK1	Jan 01, 1995	MedGen:C0472792,OMIM:235700,SNOMED CT:191177007	Hemolytic anemia due to hexokinase deficiency	germline	10	69384348	TTTTGACTGCAACAGAGAATGGTGACTTCTTGGCCCTGGATCTTGGAGGAACCAATTTCCG
387907205	40605	NM_033360.3(KRAS):c.211T>C (p.Tyr71His)	KRAS	Feb 06, 2013	MedGen:C3809005,OMIM:615278	Cardiofaciocutaneous syndrome 2	germline	12	25227313	CAAGAGGAGTACAGTGCAATGAGGGACCAGTACATGAGGACTGGGGAGGGCTTTCTTTGTG
397514347	36329	NM_000060.4(BTD):c.248T>C (p.Leu83Ser)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15635627	CTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTCATGAACCAGAACCTTGACATCTA
5742905	15159	NM_000071.2(CBS):c.833T>C (p.Ile278Thr)	CBS	Oct 31, 2017	na;Human Phenotype Ontology:HP:0002156,MedGen:C0019880;MedGen:C3150344,OMIM:236200;MedGen:CN068394;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202;MedGen:CN169374	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED;Homocystinuria;Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-responsive;Thoracic aortic aneurysm and aortic dissection;not provided;not specified	germline;unknown	21	43063074	GAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATCCCGAAGGGTCCATCCTCGC
879254814	246019	NM_000527.4(LDLR):c.1174T>C (p.Cys392Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111627	GGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGG
281860286	46967	NM_018713.2(SLC30A10):c.500T>C (p.Phe167Ser)	SLC30A10	Aug 30, 2012	OMIM:613280	Hypermanganesemia with dystonia 1	not provided	1	219927941	AGCTGGCGGAGGGCTGTGTCCCCGGCGCTTTCGGGGGGCCTCAGGGCGCGGAGGACCCGCG
797045193	206625	NM_033409.3(SLC52A3):c.224T>C (p.Ile75Thr)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	765551	GGCCCAGCTGCCTTTCCGAAGTGCCCATCATCTTCACCCTGCTGGGCGTGGGAACCGTCAC
104894631	21564	NM_018129.3(PNPO):c.784T>C (p.Ter262Gln)	PNPO	Apr 15, 2005	MedGen:C1864723,OMIM:610090,Orphanet:ORPHA79096	Pyridoxal 5'-phosphate-dependent epilepsy	germline	17	47946780	GAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAG
879255697	247714	NM_014191.3(SCN8A):c.779T>C (p.Phe260Ser)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51699642	AACTGTCAGATGTGATGATCCTGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACT
72554328	103029	NM_000531.5(OTC):c.227T>C (p.Leu76Ser)	OTC	-	MedGen:CN517202	not provided	unknown	X	38369806	TTCTTGTCCTTGATTTATAGTATTTGCCTTTATTGCAAGGGAAGTCCTTAGGCATGATTTT
111033832	36642	NM_000155.3(GALT):c.980T>C (p.Leu327Pro)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649485	AGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGT
869312846	226615	NM_177559.2(CSNK2A1):c.824+2T>C	CSNK2A1	Aug 05, 2016	MedGen:C4310739,OMIM:617062	Okur-chung neurodevelopmental syndrome	germline	20	488676	GATCCACGTTTCAATGATATCTTGGGCAGGTAAGTCATGAAACAAAATATGTGCATCTGTG
397514756	75600	NM_005689.3(ABCB6):c.1067T>C (p.Leu356Pro)	ABCB6	Sep 01, 2013	MedGen:C3809394,OMIM:615402	Dyschromatosis universalis hereditaria 3	germline	2	219216084	AGCTGCTCATCTTCTCCCACCTGCACGAGCTCTCACTGCGCTGGCACCTGGGGCGCCGCAC
121918733	79488	NM_006920.4(SCN1A):c.269T>C (p.Phe90Ser)	SCN1A	Jul 15, 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;paternal	2	166058684	TTCTATGTTGTGTTCCTGTCTTACAGACTTTTATAGTATTGAATAAAGGGAAGGCCATCTT
118203939	15917	NM_000046.3(ARSB):c.349T>C (p.Cys117Arg)	ARSB	Apr 01, 1992	MedGen:CN068452	Mucopolysaccharidosis, type vi, severe	germline	5	78969156	ACAGGTTTACAGCACCAAATAATCTGGCCCTGTCAGCCCAGCTGTGTTCCTCTGGATGAAA
111033622	25064	NM_000206.2(IL2RG):c.343T>C (p.Cys115Arg)	IL2RG	Nov 21, 1996	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006	X-linked severe combined immunodeficiency	germline	X	71110615	TATCTATTCTCTGAAGAAATCACTTCTGGCTGTCAGTTGCAAAAAAAGGAGATCCACCTCT
398123074	98172	NM_000016.5(ACADM):c.233T>C (p.Ile78Thr)	ACADM	Mar 21, 2017	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline	1	75732869	TCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAA
80358182	262923	NM_007294.3(BRCA1):c.5332+2T>C	BRCA1	Apr 16, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43051061	CTATGGGCCCTTCACCAACATGCCCACAGGTAAGAGCCTGGGAGAACCCCAGAGTTCCAGC
104894495	29386	NM_002435.2(MPI):c.413T>C (p.Met138Thr)	MPI	Jun 01, 1998	MedGen:C1865145,OMIM:602579,Orphanet:ORPHA79319	Congenital disorder of glycosylation type 1B	germline	15	74892728	ACTACCCCGATGCCAACCACAAGCCAGAGATGGCCATTGCCCTCACCCCCTTCCAGGGCTT
74853476	16789	NM_000787.3(DBH):c.339+2T>C	DBH	Jun 14, 2016	MedGen:C0342687,OMIM:223360,Orphanet:ORPHA230;MedGen:CN517202	Dopamine beta hydroxylase deficiency;not provided	germline	9	133636712	GGACCGATGGGGACACTGCCTATTTTGCGGTGAGTCTCTCCTCCCTGCCAGCTCTCCAAAC
786204478	187065	NM_000383.3(AIRE):c.463+2T>C	AIRE	Dec 08, 2016	MedGen:C0085859,OMIM:240300,Orphanet:ORPHA3453,SNOMED CT:11244009;MedGen:CN517202	Polyglandular autoimmune syndrome, type 1;not provided	germline;unknown	21	44287135	CCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGT
151344515	46950	NM_006796.2(AFG3L2):c.1997T>C (p.Met666Thr)	AFG3L2	May 17, 2011	MedGen:C1853249,OMIM:610246,Orphanet:ORPHA101109	Spinocerebellar ataxia 28	not provided	18	12337519	TATGTATTTTTCAGATTGTTCAGTTTGGCATGAATGAAAAGGTTGGGCAAATCTCCTTTGA
104894272	28797	NM_000315.3(PTH):c.67T>C (p.Ser23Pro)	PTH	Oct 01, 1999	MedGen:C1832648,OMIM:146200,Orphanet:ORPHA2238	Hypoparathyroidism familial isolated	germline	11	13492789	GTCATGTTGGCAATTTGTTTTCTTACAAAATCGGATGGGAAATCTGTTAAGTAAGTACTGT
886041777	264676	NM_002336.2(LRP6):c.2994+2T>C	LRP6	May 11, 2016	MedGen:CN517202	not provided	germline	12	12150834	TCCGAAAGGCACAAGAAGATGGCAGCCAGGTAATTGAGAGCTTGGTTCAAAATTCATTTCT
121909028	22223	NM_000492.3(CFTR):c.3857T>C (p.Phe1286Ser)	CFTR	Apr 01, 1993	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117642577	CAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGAC
-1	213768	NM_002609.3(PDGFRB):c.1994T>C (p.Val665Ala)	PDGFRB	Nov 21, 2017	MedGen:C1866182,OMIM:601812,Orphanet:ORPHA363665	Premature aging syndrome, Penttinen type	germline	5	150124279	TGAGTCACCTTGGGCCCCACCTGAACGTGGTCAACCTGTTGGGGGCCTGCACCAAAGGAGG
387907188	40332	NM_021167.4(GATAD1):c.304T>C (p.Ser102Pro)	GATAD1	Dec 01, 2011	MedGen:C3553409,OMIM:614672	Cardiomyopathy, dilated, 2b	germline	7	92448806	TCTGCTCGGCTCAGAAACACTAAATACAAATCTGCTCCGGCTGCTGAAAAGAAAGTCTCCA
587777736	166011	NM_017617.4(NOTCH1):c.1285T>C (p.Cys429Arg)	NOTCH1	Sep 04, 2014	MedGen:C4014970,OMIM:616028	Adams-Oliver syndrome 5	de novo;germline	9	136517908	GGTGCCAACCCCTGCGAGCATGCGGGCAAGTGCATCAACACGCTGGGCTCCTTCGAGTGCC
137854526	150231	NM_213599.2(ANO5):c.1733T>C (p.Phe578Ser)	ANO5	Feb 27, 2017	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2L;not provided	germline;unknown	11	22262231	TTTACTCATCCTGCTTCTACGTAGCTTTCTTTAAAGGGAAGTTCGTAGGCTATCCTGGAAA
63749992	426856	NM_001171.5(ABCC6):c.3715T>C (p.Tyr1239His)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16159502	AGCATCGTGTCAGTGGAGCGGATGCAGGACTATGCCTGGACGCCCAAGGAGGTGATGGGCG
28932769	31217	NM_002055.4(GFAP):c.1055T>C (p.Leu352Pro)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911308	TGGCCCGCCACTTGCAGGAGTACCAGGACCTGCTCAATGTCAAGCTGGCCCTGGACATCGA
886039487	260275	NM_000533.4(PLP1):c.762+2T>C	PLP1	Feb 23, 2016	MedGen:CN517202	not provided	germline	X	103789400	TGGGGGCTGCAGCTACACTGGTTTCCCTGGTGAGTTGACTTTGAATGATCTTGGCAAGTAA
869312148	214036	NM_000169.2(GLA):c.610T>C (p.Trp204Arg)	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	101400695	ACTGGCAGAAGCATTGTGTACTCCTGTGAGTGGCCTCTTTATATGTGGCCCTTTCAAAAGG
-1	214859	NM_016218.3(POLK):c.1460T>C (p.Ile487Thr)	POLK	May 23, 2014	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75593981	TTGTTTCTACTGCAGAAGAAATATTTGCCATTGCTAAGGAATTGCTAAAAACAGAAATTGA
104894781	26638	NM_178152.2(DCX):c.373T>C (p.Tyr125His)	DCX	Jan 09, 1998	MedGen:C1848199,OMIM:300067,Orphanet:ORPHA2148;MedGen:C1848070	Lissencephaly, X-linked;Subcortical laminar heterotopia, X-linked	germline	X	111401322	AATCACTTATTTCTTGCCTTAGGGGAAAGCTATGTCTGTTCCTCAGACAACTTCTTTAAAA
1064793878	406072	NM_000551.3(VHL):c.551T>C (p.Leu184Pro)	VHL	Jul 28, 2015	MedGen:CN517202	not provided	germline	3	10149874	ATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGT
121909223	22856	NM_000314.6(PTEN):c.370T>C (p.Cys124Arg)	PTEN	Jun 30, 2016	MedGen:CN072330,OMIM:158350;MedGen:CN517202	Cowden syndrome 1;not provided	germline	10	87933129	GAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAA
111033701	36514	NM_001258332.1(GALT):c.125T>C (p.Val42Ala)	GALT	Dec 29, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN169374	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified	germline	9	34647906	TCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCT
863225176	214190	NM_001080522.2(CC2D2A):c.4226T>C (p.Ile1409Thr)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	unknown	4	15589591	TGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGG
72667012	414029	NM_000088.3(COL1A1):c.333+2T>C	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	paternal	17	50199554	CCACCGACCAAGAAACCACCGGCGTCGAGGTAATCTCCTGCCCTCGAATTTTGCCCCTGCG
137853048	22114	NM_006009.3(TUBA1A):c.1190T>C (p.Leu397Pro)	TUBA1A	Oct 01, 2008	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011	Lissencephaly 3	germline	12	49185176	CCTGGGCTCGCCTGGACCACAAGTTTGACCTGATGTATGCCAAACGTGCCTTTGTTCACTG
72556269	103103	NM_000531.5(OTC):c.476T>C (p.Ile159Thr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401364	ACACCCTGGCTAAAGAAGCATCCATCCCAATTATCAATGGGCTGTCAGATTTGTACCATCC
782051102	488091	NM_080473.4(GATA5):c.569T>C (p.Val190Ala)	GATA5	Mar 16, 2018	MedGen:CN873437,OMIM:617912	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5	germline	20	62473533	AGGAGTTCCCGGGTGAGGGTCGTGAGTGTGTCAACTGCGGGGCCCTGTCCACACCGCTGTG
121908155	19741	NM_153741.1(DPM3):c.254T>C (p.Leu85Ser)	DPM3	Apr 20, 2012	MedGen:C2752007,OMIM:612937,Orphanet:ORPHA263494	Congenital disorder of glycosylation type 1O	germline	1	155139987	AGAGCCAGATACAGGAGGCCCGAGCCGACTTAGCCCGCAGGGGGCTGCGCTTCTGACAGCC
397516709	53488	NM_001943.4(DSG2):c.523+2T>C	DSG2	May 17, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1857777,OMIM:610193;MedGen:CN230736;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 10;Cardiovascular phenotype;not provided	germline	18	31521245	TGGGTCTGTTGAAGAGTTGAGTGCAGCACGTAAGAGTCTTTTTTTTTTTTTTTAATAAATA
61748497	15356	NM_000552.4(VWF):c.3178T>C (p.Cys1060Arg)	VWF	Nov 01, 2002	MedGen:CN517202;MedGen:C1282975,Orphanet:ORPHA166093,SNOMED CT:359732009	not provided;von Willebrand disease type 2N	germline	12	6025624	ATCATGAAGCAGACGATGGTGGATTCCTCCTGTAGAATCCTTACCAGTGACGTCTTCCAGG
-1	488166	NM_020988.2(GNAO1):c.851T>C (p.Leu284Ser)	GNAO1	-	MedGen:C3809606,OMIM:615473	Early infantile epileptic encephalopathy 17	de novo	16	56351511	TCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGG
-1	446439	NM_001184880.1(PCDH19):c.2147+2T>C	PCDH19	Jul 27, 2016	MedGen:CN517202	not provided	germline	X	100406449	AACAAAGAGATCCGGACCTACAACTGCAGGTAAAGCCAAGTTTTCTTTCTTTGTCTTGGAT
786204758	186763	NM_000370.3(TTPA):c.2T>C (p.Met1Thr)	TTPA	Apr 26, 2017	MedGen:C1848533,OMIM:277460,Orphanet:ORPHA96;MedGen:CN517202	Ataxia with vitamin E deficiency;not provided	germline;unknown	8	63086020	TAGCTGCGGCCGCAGCAGCGGCGGCGGGCATGGCAGAGGCGCGATCCCAGCCCTCGGCGGG
587777855	166312	NM_032682.5(FOXP1):c.1600T>C (p.Trp534Arg)	FOXP1	Feb 16, 2017	MedGen:C3150923,OMIM:613670	Mental retardation with language impairment and with or without autistic features	germline	3	70972607	GTGCGAGTAGAAAACGTTAAAGGGGCAGTATGGACAGTGGATGAAGTAGAATTCCAAAAAC
796052355	202875	NM_017882.2(CLN6):c.486+2T>C	CLN6	Oct 18, 2013	MedGen:CN517202	not provided	germline	15	68211673	TCATCAAGAATCTCAAGCCGGAGACGCTGGTGAGGCCACCTCCTGCTCCCTGCCTGTAAGC
120074136	18017	NM_000271.4(NPC1):c.337T>C (p.Cys113Arg)	NPC1	Feb 01, 2003	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23568949	AACCTACTGAACCTGTTTTGTGAGCTGACATGTAGCCCTCGACAGAGTCAGTTTTTGAATG
62516109	98654	NM_000277.2(PAH):c.638T>C (p.Leu213Pro)	PAH	Dec 06, 2016	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102855204	GCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAA
387906601	38579	NM_000781.2(CYP11A1):c.665T>C (p.Leu222Pro)	CYP11A1	Mar 01, 2009	MedGen:C3151055,OMIM:613743,Orphanet:ORPHA168558	Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete	germline	15	74343953	ACGTCATTTTTGGGGAGCGCCAGGGGATGCTGGAGGAAGTAGTGAACCCCGAGGCCCAGCG
387906421	24657	m.14674T>C	MT-TE	May 22, 2017	MedGen:C0751651,Orphanet:ORPHA68380;MedGen:C3151898,OMIM:500009,Orphanet:ORPHA254864;MedGen:CN517202	Mitochondrial diseases;Mitochondrial myopathy, infantile, transient;not provided	germline	MT	14674	CACACTCAACAGAAACAAAGCATACATCATTATTCTCGCACGGACTACAACCACGACCAAT
-1	432072	NM_014112.4(TRPS1):c.2756T>C (p.Leu919Pro)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006	Trichorhinophalangeal dysplasia type I	germline	8	115418397	GTGCCAATTGCCTGACCACAAAGACCTCTCTCTGGCGAAAGAATGCAAATGGCGGATATGT
-1	464340	NM_000138.4(FBN1):c.6049T>C (p.Cys2017Arg)	FBN1	Apr 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	48441835	ACTCATGTGATTCTTTTAGATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGG
28933089	29637	NM_000422.2(KRT17):c.296T>C (p.Leu99Pro)	KRT17	Jun 09, 2015	MedGen:C1721007,OMIM:167210;MedGen:CN517202	Pachyonychia congenita 2;not provided	germline	17	41624214	AGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGCCCTGGAGGAGGCCAA
587779410	106600	NM_012434.4(SLC17A5):c.500T>C (p.Leu167Pro)	SLC17A5	-	MedGen:C1096902,OMIM:269920,Orphanet:ORPHA309324,SNOMED CT:34566007	Sialic acid storage disease, severe infantile type	inherited	6	73641716	CAGATTTAGGAGTTGGACCACTCATTGTACTCAGAGCACTAGAAGGACTAGGAGAGGTAAT
-1	445348	NM_000138.4(FBN1):c.6313+2T>C	FBN1	Feb 09, 2016	MedGen:CN517202	not provided	germline	15	48437766	CTGCGAGCTCTGCCCCACGGAACCTGATGGTATGTCTGTCATCTGCATTTCTCTCTGGGCC
-1	414706	NM_021830.4(TWNK):c.1391T>C (p.Leu464Pro)	TWNK	Apr 07, 2017	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	10	100989791	TCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTG
28936072	26632	NM_001363.4(DKC1):c.113T>C (p.Ile38Thr)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000;MedGen:C1846142,Orphanet:ORPHA3322	Dyskeratosis congenita X-linked;Hoyeraal Hreidarsson syndrome	germline;unknown	X	154765472	AGGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGA
41341344	30690	NM_000517.4(HBA2):c.89T>C (p.Leu30Pro)	HBA2	Mar 28, 2013	na;MedGen:CN077787	HEMOGLOBIN AGRINIO;Hemoglobin H disease, nondeletional	germline	16	173001	CGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGA
587779618	107084	NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189011772	GGTGTGGACGTTGGCCCTGTTTGCTTTTTATAAACCAAACTCTATCTGAAATCCCAACAAA
199422316	47527	NM_001099274.1(TINF2):c.860T>C (p.Leu287Pro)	TINF2	May 10, 2012	MedGen:C1851970,OMIM:127550	Dyskeratosis congenita autosomal dominant	not provided	14	24240620	GAGGCCATAAGGAGCGCCCCACAGTCATGCTGTTTCCCTTTAGGAATCTCGGCTCACCAAC
797045775	207247	NM_133433.3(NIPBL):c.6108+2T>C	NIPBL	Jan 08, 2015	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37038740	TGCAACCATACCTTACCACTAAATGTAGTGTAAGTATAGAGCTGTCTTATTCTTGTATCTT
35870237	16980	NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr)	LRRK2	May 09, 2014	MedGen:C1846862,OMIM:607060	Parkinson disease 8, autosomal dominant	germline	12	40340404	CCATCATTGCAAAGATTGCTGACTACGGCATTGCTCAGTACTGCTGTAGAATGGGGATAAA
193302927	76416	m.10237T>C	MT-ND3	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	not provided	MT	10237	CTTTCTCCATAAAATTCTTCTTAGTAGCTATTACCTTCTTATTATTTGATCTAGAAATTGC
121909036	22247	NM_000492.3(CFTR):c.3194T>C (p.Leu1065Pro)	CFTR	Jun 13, 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	117611635	TTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGA
387906693	38863	NM_002734.4(PRKAR1A):c.1117T>C (p.Tyr373His)	PRKAR1A	Apr 06, 2012	MedGen:C3276228,OMIM:101800	Acrodysostosis 1 with or without hormone resistance	germline	17	68530420	TCAGACATCCTCAAACGAAACATCCAGCAGTACAACAGTTTTGTGTCACTGTCTGTCTGAA
28928895	260164	NM_005557.3(KRT16):c.383T>C (p.Leu128Pro)	KRT16	Aug 01, 2016	MedGen:CN517202	not provided	germline	17	41612306	AGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGCTCT
121964991	27008	NM_000108.4(DLD):c.1178T>C (p.Ile393Thr)	DLD	Mar 01, 2005	MedGen:CN043137,OMIM:246900	Maple syrup urine disease, type 3	germline	7	107917404	ACATTGACTACAATTGTGTGCCATCAGTGATTTACACACACCCTGAAGTTGCTTGGGTTGG
28933400	27958	NM_000702.3(ATP1A2):c.2192T>C (p.Met731Thr)	ATP1A2	Jan 13, 2012	MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine type 2	germline	1	160135510	CATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCA
121918617	27966	NM_000702.3(ATP1A2):c.857T>C (p.Ile286Thr)	ATP1A2	Aug 01, 2007	MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine type 2	germline	1	160127660	AGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGT
104894166	20472	NM_005097.3(LGI1):c.136T>C (p.Cys46Arg)	LGI1	Aug 27, 2015	MedGen:C1838062,OMIM:600512,Orphanet:ORPHA101046	Epilepsy, lateral temporal lobe, autosomal dominant	germline	10	93758280	AAACCAGCGAAGCCAAAATGCCCTGCCGTGTGTACTTGTACCAAAGATAATGCTTTATGTG
267607038	16070	NM_015559.2(SETBP1):c.2612T>C (p.Ile871Thr)	SETBP1	Jan 12, 2017	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000;MedGen:CN517202	Schinzel-Giedion syndrome;not provided	germline	18	44951952	GTGAGGAGACGATCCCCAGCGACAGCGGCATTGGGACAGACAACAACAGCACTTCTGACCA
199472685	77966	NM_000218.2(KCNQ1):c.401T>C (p.Leu134Pro)	KCNQ1	Dec 12, 2011	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2527942	TGTCCCTGTCTTGCAGCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGCGTGCTGTCCAC
67284661	103144	NM_000531.5(OTC):c.577T>C (p.Trp193Arg)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403654	TATAGCTCTCTGAAAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATCCTGCACT
118192170	28014	NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr)	RYR1	Oct 12, 2017	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	de novo;germline;unknown	19	38584989	TGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGA
63751318	426826	NM_001171.5(ABCC6):c.3919T>C (p.Ser1307Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154995	ATCGTTGGCAGGACCGGGGCAGGGAAGTCCTCCCTGGCCAGTGGGCTGCTGCGGCTCCAGG
28989185	21804	NM_001211.5(BUB1B):c.3035T>C (p.Leu1012Pro)	BUB1B	Jul 27, 2015	MedGen:CN031748,OMIM:257300;MedGen:C1864389,OMIM:176430	Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait	germline	15	40220641	ATGCCAATGATGAGGCCACAGTGTCTGTTCTTGGGGAGCTTGCAGCAGAAATGAATGGGGT
864309726	216027	NM_172250.2(MMAA):c.266T>C (p.Leu89Pro)	MMAA	Jan 07, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145639405	CTGATAAAGAGCAAAGATTTGTGGATAAACTTTATACTGGTTTAATCCAAGGGCAAAGGGC
121909135	22634	NM_000085.4(CLCNKB):c.1294T>C (p.Tyr432His)	CLCNKB	Oct 01, 1997	MedGen:C1846343,OMIM:607364,Orphanet:ORPHA93605	Bartter syndrome type 3	germline	1	16051544	CCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAG
72554312	26031	NM_000531.5(OTC):c.134T>C (p.Leu45Pro)	OTC	Jan 26, 2017	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38367347	TGCAGCTGAAGGGCCGTGACCTTCTCACTCTAAAAAACTTTACCGGAGAAGAAATTAAATA
751889864	188286	NM_005592.3(MUSK):c.1724T>C (p.Ile575Thr)	MUSK	Dec 24, 2014	Human Phenotype Ontology:HP:0001488,MedGen:C1865916;Human Phenotype Ontology:HP:0002194,MedGen:C1837658;MedGen:C1276035,OMIM:208150,SNOMED CT:401138005;Human Phenotype Ontology:HP:0002093,MedGen:C0035229;Human Phenotype Ontology:HP:0010307,MedGen:C0237304	Bilateral ptosis;Delayed gross motor development;Pena-Shokeir syndrome type I;Respiratory insufficiency;Stridor	germline;unknown	9	110785664	TGCTCAGCCTGGAGTATCCAAGGAATAACATTGAATATGTGAGAGACATCGGAGAGGGAGC
113994038	19160	NM_001034116.1(EIF2B4):c.1393T>C (p.Cys465Arg)	EIF2B4	Jun 01, 2003	MedGen:C1847967,Orphanet:ORPHA99853	Ovarioleukodystrophy	germline	2	27364579	TCCATTGCAGATGACCCTGATGATCTGCAATGTAAGCGGGGAGAACATGTTGCGCTGGCTA
587777090	102941	NM_014754.2(PTDSS1):c.794T>C (p.Leu265Pro)	PTDSS1	Jan 01, 2014	MedGen:C0432269,OMIM:151050,Orphanet:ORPHA2658,SNOMED CT:1393001	Lenz-Majewski hyperostosis syndrome	germline	8	96304081	CCACCACCGGGAAGATCAAGAGAGCTGTTCTGCAGTTCACTCCTGCTAGCTGGACCTATGT
377767348	36175	NM_005359.5(SMAD4):c.1087T>C (p.Cys363Arg)	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51065554	TACGTGGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGA
118204436	15738	NM_000512.4(GALNS):c.413T>C (p.Val138Ala)	GALNS	Sep 28, 2015	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88841001	TGAAGAAGGCCGGCTACGTCAGCAAGATTGTCGGCAAGTGGTAAGTCTCCTGGCCACGCCT
128621203	26420	NM_000061.2(BTK):c.1625T>C (p.Leu542Pro)	BTK	Oct 01, 1994	MedGen:C0472813,OMIM:307200,Orphanet:ORPHA632,SNOMED CT:234533006	X-linked agammaglobulinemia with growth hormone deficiency	germline	X	101354636	AAGGAGTTGTTAAAGTATCTGATTTCGGCCTGTCCAGGTGAGTGTGGCTTTTTCATCTTTC
763623409	420014	NM_004928.2(C21orf2):c.319T>C (p.Tyr107His)	C21orf2	Jun 23, 2017	MedGen:C1865695,OMIM:602271,Orphanet:ORPHA168549	Spondylometaphyseal dysplasia axial	germline	21	44333087	AACCCGTGCTGCGGCACCAGCCCCCACCGCTACCGCATGACCGTGCTGCGCACCCTGCCGC
61371557	77275	NM_000526.4(KRT14):c.815T>C (p.Met272Thr)	KRT14	Mar 22, 2016	MedGen:CN517202	not provided	germline	17	41583872	GCCAGGTGGGTGGAGATGTCAATGTGGAGATGGACGCTGCACCTGGCGTGGACCTGAGCCG
886039748	259735	NM_000348.3(SRD5A2):c.2T>C (p.Met1Thr)	SRD5A2	Aug 30, 2016	MedGen:CN517202	not provided	germline	2	31580899	CAGCGGCCACCGGCGAGGAACACGGCGCGATGCAGGTTCAGTGCCAGCAGAGCCCAGTGCT
121917814	20562	NM_014324.5(AMACR):c.154T>C (p.Ser52Pro)	AMACR	Jan 24, 2017	MedGen:C1858325,OMIM:614307;MedGen:C1858328,OMIM:214950	Alpha-methylacyl-CoA racemase deficiency;Bile acid synthesis defect, congenital, 4	not provided	5	34007866	GACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCGCGGG
121908896	21443	NM_001457.3(FLNB):c.703T>C (p.Ser235Pro)	FLNB	Jul 15, 2007	MedGen:C0432201,OMIM:112310,Orphanet:ORPHA1263,SNOMED CT:254054000	Boomerang dysplasia	germline	3	58081692	GTGGACGAGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCCAAGCTCAAGCCGG
863225258	214455	NM_005445.3(SMC3):c.139T>C (p.Phe47Leu)	SMC3	Apr 01, 2015	MedGen:C1853099,OMIM:610759	Cornelia de Lange syndrome 3	germline	10	110575344	ATAGTTGTTTTTGTATTTCCAGCAATTCAGTTTGTTCTCAGTGATGAGTTTAGTCATCTTC
207460004	24724	m.14849T>C	MT-CYB	Mar 01, 2002	MedGen:C4016599	Exercise intolerance, cardiomyopathy, and septooptic dysplasia	germline	MT	14849	TCCAACATCTCCGCATGATGAAACTTCGGCTCACTCCTTGGCGCCTGCCTGATCCTCCAAA
191205969	21266	NM_002420.5(TRPM1):c.296T>C (p.Leu99Pro)	TRPM1	May 29, 2015	MedGen:C2750747,OMIM:613216;MedGen:CN517202	Congenital stationary night blindness, type 1C;not provided	germline	15	31068010	TGAAAGATTGGCAGCTGGAACTCCCCAAGCTCTTAATATCTGTGCATGGAGGCCTCCAGAA
387907075	39925	NM_024027.4(COLEC11):c.505T>C (p.Ser169Pro)	COLEC11	Mar 01, 2011	MedGen:C0796279,OMIM:265050	Carnevale syndrome	germline	2	3643807	GAGGAGAAGCGCTACGCGGACGCCCAGCTGTCCTGCCAGGGCCGCGGGGGCACGCTGAGCA
121912465	29777	NM_000213.4(ITGB4):c.112T>C (p.Cys38Arg)	ITGB4	Nov 01, 1998	MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403	Epidermolysis bullosa junctionalis with pyloric atresia	germline	17	75727227	AACCGCTGCAAGAAGGCCCCAGTGAAGAGCTGCACGGAGTGTGTCCGTGTGGATAAGGACT
137852905	17642	NM_058172.5(ANTXR2):c.566T>C (p.Ile189Thr)	ANTXR2	Apr 01, 2012	MedGen:C2745948,OMIM:228600,SNOMED CT:238861002,SNOMED CT:238867003	Hyaline fibromatosis syndrome	germline	4	80054342	TCTTCCTCTTCTTTCTAAAGCTTGAAAGAATTGCTGATTCCAAGGAGCAAGTTTTCCCTGT
775051461	395335	NM_021147.4(CCNO):c.638T>C (p.Leu213Pro)	CCNO	Oct 15, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	55231790	TCTGCTGCGGCGCCTTCTCCCGGCAGCAGCTCTGCAACCTCGAGTGCATCGTGCTGCACAA
121909200	22979	NM_000503.5(EYA1):c.1459T>C (p.Ser487Pro)	EYA1	Dec 01, 1997	MedGen:C0265234,OMIM:113650,Orphanet:ORPHA107,SNOMED CT:290006	Melnick-Fraser syndrome	germline	8	71215630	TCCTGGTTGACACTGGCCCTGAAAGCACTCTCGCTCATTCACTCCCGGTGAGGCTCTCTGC
121913141	29728	NM_000208.3(INSR):c.779T>C (p.Leu260Pro)	INSR	Sep 01, 1989	MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005	Leprechaunism syndrome	germline	19	7184511	CCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCGCC
121913052	31582	NM_000186.3(CFH):c.1606T>C (p.Cys536Arg)	CFH	Apr 23, 1999	MedGen:C0398777,OMIM:609814,Orphanet:ORPHA200421,SNOMED CT:234622003	Factor H deficiency	germline	1	196715679	TTTAAGCTGAATGACACATTGGACTATGAATGCCATGATGGTTATGAAAGCAATACTGGAA
121434481	22959	NM_000860.5(HPGD):c.577T>C (p.Ser193Pro)	HPGD	Jan 01, 2009	MedGen:C1861514,OMIM:119900	Digital clubbing, isolated congenital	germline	4	174493236	CCAGGCTTTGTTAACACAGCCATCCTTGAATCAATTGAAAAAGAAGAAAACATGGGACAAT
1057518693	361234	NM_001853.3(COL9A3):c.369+2T>C	COL9A3	Sep 23, 2014	MedGen:C1832998,OMIM:600969	Multiple epiphyseal dysplasia 3	maternal	20	62821532	TGCAGGGCAAAGGCCTCCCTGGACCCCCCGTGAGTACTGACAACCCTTGGGGCCCTGAGCA
1057519448	362166	NM_003491.3(NAA10):c.215T>C (p.Ile72Thr)	NAA10	-	MedGen:C3275447,OMIM:300855,Orphanet:ORPHA276432	N-terminal acetyltransferase deficiency	germline	X	153932549	AGGACCCAGATGATGTGCCCCATGGACATATCACCTCATTGGTATGTAAGGTCCACCCAGG
62653011	38825	NM_000329.2(RPE65):c.1102T>C (p.Tyr368His)	RPE65	Jun 14, 2016	MedGen:C1859844,OMIM:204100;MedGen:CN239301;MedGen:C3151086,OMIM:613794;MedGen:CN517202	Leber congenital amaurosis 2;RPE65-Related Disorders;Retinitis pigmentosa 20;not provided	germline	1	68438213	AGAAAGGCTCCCCAACCTGAAGTTAGGAGATATGTACTTCCTTTGAATATTGACAAGGTAA
121964924	15225	NM_001385.2(DPYS):c.1078T>C (p.Trp360Arg)	DPYS	Sep 01, 1998	MedGen:C0342803,OMIM:222748,SNOMED CT:238014002	Dihydropyrimidinase deficiency	germline	8	104427994	AATGGTGTTGAAGATCGGATGTCCGTAATATGGGAAAAAGGCGTGGTGGGTTTCACAGGTT
137852533	24987	NM_000291.3(PGK1):c.946T>C (p.Cys316Arg)	PGK1	May 15, 1992	MedGen:C1970848,OMIM:300653,Orphanet:ORPHA713	Phosphoglycerate kinase 1 deficiency	germline	X	78124883	TCTTTCACCTCTACCCCTCAGGGCTTGGACTGTGGTCCTGAAAGCAGCAAGAAGTATGCTG
757863670	214373	NM_030578.3(B9D2):c.107T>C (p.Leu36Pro)	B9D2	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	19	41358004	CTCTCACTGCAGGGGCGGCATGGAAGCTCCTGTCAGGCGTGCGGGAGGGCCAAACGCAAGT
281865499	47580	NM_004614.4(TK2):c.156+2T>C	TK2	Jul 18, 2017	MedGen:C3149750,OMIM:609560;MedGen:CN517202	Mitochondrial DNA depletion syndrome 2;not provided	germline	16	66548976	AAGAACAGGAAAAAGAGAAAAAATCAGTGGTAAGTCCCTCTTTTATGTGTACTCTCTAGGA
760918829	214182	NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	unknown	4	15574151	ATGTTTACCAAGTCATATTTTCTTCACAGATTGATGGAACATTTAAAATAGATATTCCCCC
121908417	20461	NM_004924.5(ACTN4):c.784T>C (p.Ser262Pro)	ACTN4	Mar 01, 2000	MedGen:C0333497,OMIM:603278	Focal segmental glomerulosclerosis 1	germline	19	38710307	CCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGC
121918648	27876	NM_001355437.1(SPTB):c.6055T>C (p.Ser2019Pro)	SPTB	Mar 01, 1995	MedGen:C1866810	Elliptocytosis 3	germline	14	64767827	CTGGAGGTGTGCCAGTTCTCGAGGGATGCCTCTGTGGCTGAGGCGTGGCTGATTGCCCAGG
121913235	362788	NM_000222.2(KIT):c.1669T>C (p.Trp557Arg)	KIT	Jul 15, 2017	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;Human Phenotype Ontology:HP:0100522,MeSH:D013945,MedGen:C0040100,Orphanet:ORPHA99867	Gastrointestinal stroma tumor;Malignant melanoma;Thymoma	germline;somatic	4	54727437	TCCCCACAGAAACCCATGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACA
397516445	52774	NM_000551.3(VHL):c.497T>C (p.Val166Ala)	VHL	Sep 11, 2012	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10149820	ATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAG
531656357	359527	NM_018075.4(ANO10):c.2T>C (p.Met1Thr)	ANO10	Nov 30, 2016	MedGen:CN517202	not provided	germline	3	43605851	TATTTTAATTTTCCGCAGATTTGTCAAAGATGAAAGTGACCTTATCAGCTTTGGATACTTC
121918550	20084	NM_015665.5(AAAS):c.787T>C (p.Ser263Pro)	AAAS	Sep 27, 2016	Human Phenotype Ontology:HP:0003487,MedGen:C0034935;MedGen:C0271742,OMIM:231550,Orphanet:ORPHA869,SNOMED CT:45414006;Gene:7974,Human Phenotype Ontology:HP:0001347,MedGen:C0151889,OMIM:145290;Human Phenotype Ontology:HP:0002313,MedGen:C0037771;MedGen:CN517202	Babinski sign;Glucocorticoid deficiency with achalasia;Hyperreflexia;Spastic paraparesis;not provided	germline;unknown	12	53309624	GCCCCCAGTGGGGGGCGGCTGCTCTCAGCTTCACCCGTGGATGCTGCTATCCGGGTGAGTG
864309714	215723	NM_001009999.2(KDM1A):c.2353T>C (p.Tyr785His)	KDM1A	Dec 10, 2015	MedGen:C4225229,OMIM:616728,Orphanet:ORPHA477993	Cleft palate, psychomotor retardation, and distinctive facial features	de novo;germline	1	23082274	TGGCGTGCTGATCCCTGGGCTCGGGGCTCTTATTCCTATGTTGCTGCAGGATCATCTGGAA
72653782	426973	NM_001171.5(ABCC6):c.2030T>C (p.Leu677Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182844	CAGGGAAGTCCTCCCTGCTGTCCGCCCTCCTTGGGGAGCTGTCAAAGGTGGAGGGGTTCGT
75466054	32552	NM_020549.4(CHAT):c.914T>C (p.Ile305Thr)	CHAT	Jul 14, 2016	MedGen:C0751882,Orphanet:ORPHA590;MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Congenital myasthenic syndrome;Familial infantile myasthenia	germline	10	49625634	GCAGCATCATGCCGGAGCCTGAGCACGTCATCGTAGCCTGCTGCAATCAGGTAAGCAACCC
724160000	172123	NM_153818.1(PEX10):c.890T>C (p.Leu297Pro)	PEX10	Jan 12, 2015	MedGen:C3553948,OMIM:614871	Peroxisome biogenesis disorder 6B	germline	1	2406566	TTTCCAGAAACCCCCTGTGCACCCTGTGCCTGGAGGAGCGCAGGCACCCAACAGCCACGCC
273585645	49406	NM_000084.4(CLCN5):c.674T>C (p.Leu225Pro)	CLCN5	Aug 09, 2012	MedGen:C1848336,OMIM:300009	Dent disease 1	not provided	X	50081798	TGCACGTGGCTTGCTGCTGTGGGAACATCCTGTGCCACTGCTTCAACAAATACAGGAAGAA
121918443	28734	NM_018849.2(ABCB4):c.1207T>C (p.Tyr403His)	ABCB4	Jan 06, 1998	MedGen:C1865643,OMIM:602347,Orphanet:ORPHA79305	Progressive familial intrahepatic cholestasis 3	germline	7	87443686	AATTTGGAGTTCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCAAGGTACTGT
78242949	32759	NM_015865.6(SLC14A1):c.871T>C (p.Ser291Pro)	SLC14A1	Aug 15, 2000	na	Jk-null variant, finnish type	germline	18	45739587	ATCTACTTTGGACTCTGGGGTTTCAACAGCTCTCTGGCCTGCATTGCAATGGGAGGAATGT
1801265	15474	NM_000110.3(DPYD):c.85T>C (p.Cys29Arg)	DPYD	Dec 01, 1997	MedGen:C2720286,OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	germline	1	97883329	AATCCTCGAACACAAACTCATGCAACTCTGTGTTCCACTTCGGCCAAGAAATTAGACAAGA
879255233	59543	NM_001256240.1(PGAP2):c.380T>C (p.Leu127Ser)	PGAP2	Apr 04, 2013	Gene:100689013,MedGen:C3280153,OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	germline	11	3824097	TCGGCCTCAATGTCGTGGAGAACCTCGCGTTGCTAGTGCTCACTTATGTCTCCTCCTCCGA
398124645	98160	NM_003184.3(TAF2):c.1945T>C (p.Trp649Arg)	TAF2	Sep 21, 2011	MedGen:C3810080,OMIM:615599,Orphanet:ORPHA397951	Mental retardation, autosomal recessive 40	germline	8	119783548	AAGGTAGAATTTGAGCAAGCTGATTTTATGTGGCAGTATCAGCTCCGCTATGAGAGAGATG
111033726	18663	NM_000155.3(GALT):c.580T>C (p.Phe194Leu)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34648349	TTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGC
786205155	188070	NM_001987.4(ETV6):c.1046T>C (p.Leu349Pro)	ETV6	Mar 17, 2015	Gene:100310785,MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED CT:91857003;Human Phenotype Ontology:HP:0001873,MedGen:C0040034;Human Phenotype Ontology:HP:0001873,MedGen:C0040034	Acute lymphoid leukemia;Thrombocytopenia;Thrombocytopenia	germline	12	11884481	GACTGCTTTGGGATTACGTCTATCAGTTGCTTTCTGACAGCCGGTACGAAAACTTCATCCG
80358228	31228	NM_002353.2(TACSTD2):c.557T>C (p.Leu186Pro)	TACSTD2	Jan 01, 2005	MedGen:C0339273,OMIM:204870,Orphanet:ORPHA98957,SNOMED CT:231928002,SNOMED CT:418946006	Lattice corneal dystrophy Type III	germline	1	58576600	TGAGGCGGCTCTTCCGCGAGCGCTATCGGCTGCACCCCAAGTTCGTGGCGGCCGTGCACTA
121917818	20651	NM_007255.2(B4GALT7):c.617T>C (p.Leu206Pro)	B4GALT7	Oct 08, 1999	MedGen:C1869122,OMIM:130070,Orphanet:ORPHA75496	Ehlers-Danlos syndrome progeroid type	germline	5	177607505	ACAAGACCTATGTCGGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTGGTGAGGCC
72659324	32316	NM_000089.3(COL1A2):c.3105+2T>C	COL1A2	Feb 01, 2001	na	Osteogenesis imperfecta/Ehlers-Danlos crossover syndrome	germline	7	94426532	ATGGATTGCAAGGTCTGCCTGGTATCGCTGTAAGTAAACTGTAGCCATCTCGCACATAAAC
1085307129	413916	NM_031296.2(RAB33B):c.365T>C (p.Phe122Ser)	RAB33B	May 10, 2017	MedGen:C3714896,OMIM:615222	Smith-McCort dysplasia 2	germline	4	139472801	TCGTGTATGATATGACCAACATGGCTAGTTTTCATAGCCTACCATCTTGGATAGAAGAATG
199473529	197243	NM_000238.3(KCNH2):c.1918T>C (p.Phe640Leu)	KCNH2	Sep 23, 2014	MedGen:CN517202	not provided	germline	7	150951475	GTCTCTCCCAACACCAACTCAGAGAAGATCTTCTCCATCTGCGTCATGCTCATTGGCTGTG
1060499660	384428	NM_001111125.2(IQSEC2):c.2477T>C (p.Met826Thr)	IQSEC2	Nov 10, 2014	Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530	Mental retardation, X-linked 1	maternal	X	53248219	CTTTGCTCCTTAGCTGTGTGGTGGATGAGATGGACTTCTCCTCCATGGATCTGGATGATGC
397517150	54512	NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr)	SOS1	Jul 28, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	2	39023118	AGAATATTGATGGTTGGGAGGGAAAAGACATTGGACAGTGTTGTAATGAATTTATAATGGA
72664284	427037	NM_001171.5(ABCC6):c.1141T>C (p.Leu381=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16202036	ATGTACAGGCTCAAGGTGCTGCAGATGAGGTTGCGGTCGGCCATCACTGGCCTGGTGTACA
761824859	485707	NM_000348.3(SRD5A2):c.59T>C (p.Leu20Pro)	SRD5A2	Dec 05, 2011	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31580842	TGCTGGCAGGCAGCGCCACTTTGGTCGCCCTTGGGGCACTGGCCTTGTACGTCGCGAAGCC
779556619	265030	NM_000152.4(GAA):c.1655T>C (p.Leu552Pro)	GAA	Jun 09, 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	80112001	CGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCA
754933794	434225	NM_000527.4(LDLR):c.482T>C (p.Ile161Thr)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105388	CCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCC
879254668	245777	NM_000527.4(LDLR):c.763T>C (p.Cys255Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11106633	GATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGA
267606680	17786	NM_004183.3(BEST1):c.614T>C (p.Ile205Thr)	BEST1	Nov 01, 2009	MedGen:C2750788,OMIM:613194	Retinitis pigmentosa 50	germline	11	61956976	CGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCC
62645747	418814	NM_201253.2(CRB1):c.2842T>C (p.Cys948Arg)	CRB1	May 09, 2017	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001	Leber congenital amaurosis	germline	1	197429614	CAGTGCCAGCCGGTGCTTCAAGGATTTGAATGTAGGTAGAGTTCAAACCTACCATCTCACC
61495246	17173	NM_024514.4(CYP2R1):c.296T>C (p.Leu99Pro)	CYP2R1	May 18, 2004	MedGen:C1838657,OMIM:600081	Vitamin d hydroxylation-deficient rickets, type 1b	germline	11	14885847	TAAATGGCTATGATGTAGTAAAGGAATGCCTTGTTCATCAAAGCGAAATTTTTGCAGACAG
387907217	44177	NM_000222.2(KIT):c.1859T>C (p.Val620Ala)	KIT	Feb 01, 2001	MedGen:C4016297	Piebaldism, progressive	germline	4	54727907	GCTTAATTAAGTCAGATGCGGCCATGACTGTCGCTGTAAAGATGCTCAAGCGTAAGTTCCT
397508144	67835	NM_000492.3(CFTR):c.1021T>C (p.Ser341Pro)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117540251	ATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCA
869025276	222985	NM_014704.3(CEP104):c.735+2T>C	CEP104	Feb 02, 2016	MedGen:C4084842,OMIM:616781	Joubert syndrome 25	germline	1	3839606	TAAAACAAGCCATTGCTGATTTGCAAAAGGTATTGCCTTTGGAGAAAACAGTTCCTAATTT
193922297	44882	NM_000162.3(GCK):c.449T>C (p.Phe150Ser)	GCK	Apr 22, 2015	MedGen:C1841962,OMIM:125851;MedGen:CN517202	Maturity-onset diabetes of the young,  type 2;not provided	germline	7	44150990	AACACAAGAAGCTGCCCCTGGGCTTCACCTTCTCCTTTCCTGTGAGGCACGAAGACATCGA
587776780	28109	NM_000321.2(RB1):c.1960+2T>C	RB1	Dec 21, 1989	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48456351	TACCTCTCTTTCACTGTTTTATAAAAAAGGTTAGTAGATGATTATTTTCAAGAGCATGGAC
122459147	26594	NM_001159702.2(FHL1):c.310T>C (p.Cys104Arg)	FHL1	Jan 27, 2009	MedGen:C2678015,OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	germline	X	136207169	ACTCGGGAGGACTCCCCCAAGTGCAAGGGGTGCTTCAAGGCCATTGTGGCAGGTACTGCCT
121913025	31830	NM_000400.3(ERCC2):c.1454T>C (p.Leu485Pro)	ERCC2	Oct 15, 2001	MedGen:C0268138,OMIM:278730,SNOMED CT:68637004	Xeroderma pigmentosum, group D	germline	19	45357295	CCGTCACCATGGCAACCTTCACCATGACGCTGGCACGGGTCTGCCTCTGCCCTATGGTGAG
63751399	33184	NM_000021.3(PSEN1):c.338T>C (p.Leu113Pro)	PSEN1	Dec 23, 2010	MedGen:C1843013,OMIM:607822;Human Phenotype Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:230270009;MedGen:CN517202	Alzheimer disease, type 3;Frontotemporal dementia;not provided	germline	14	73171047	TCAGCTTTTATACCCGGAAGGATGGGCAGCTGTACGTATGAGTTTTGTTTTATTATTCTCA
751670999	260844	NM_019023.2(PRMT7):c.1480T>C (p.Trp494Arg)	PRMT7	Oct 17, 2016	MedGen:C4310689,OMIM:617157,Orphanet:ORPHA464288	Short stature, brachydactyly, intellectual developmental disability, and seizures	germline	16	68352314	AGCCTGCTGCCGTGGCACAACCTCTACTTCTGGTACGTGCGGACCGCTGTGGACCAGCACC
754221308	214173	NM_001080522.2(CC2D2A):c.1676T>C (p.Leu559Pro)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	unknown	4	15536988	AAGCAGAAATTCAAGCTGAAATAAGTGAACTGTTAGAAGAGCACACGGAGGAGTACGCACA
515726158	131995	NM_021625.4(TRPV4):c.1774T>C (p.Phe592Leu)	TRPV4	Apr 02, 2014	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Skeletal dysplasia	germline	12	109792702	CTGGTCCTGGGCTGGATGAATGCCCTTTACTTCACCCGTGGGCTGAAGCTGACGGGGACCT
80356556	34259	NM_004385.4(VCAN):c.4004-5T>C	VCAN	Jan 07, 2016	MedGen:C0339540,OMIM:143200,SNOMED CT:232064001	Wagner syndrome	germline	5	83537002	CTATTTAAGTATTGTGAAAACTCTGTTTTTTTCAGGTCGAATGAGTGATTTGAGTGTAATT
796052927	201123	NM_000310.3(PPT1):c.2T>C (p.Met1Thr)	PPT1	Jun 29, 2016	MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329;MedGen:CN517202	Ceroid lipofuscinosis neuronal 1;not provided	germline;unknown	1	40097237	CGCGCCCGCGGTCATGTGACACAGCGAAGATGGCGTCGCCCGGCTGCCTGTGGCTCTTGGC
864321708	217260	NM_172107.3(KCNQ2):c.803T>C (p.Leu268Pro)	KCNQ2	-	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	de novo	20	63442419	ACGACCACTTTGACACCTACGCGGATGCACTCTGGTGGGGCCTGGTGAGTTGTGGTCATTG
1057516105	353999	NM_172107.3(KCNQ2):c.1030T>C (p.Trp344Arg)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63433897	ACTGCCTTGTCTTTCCCTCCGCAGTCGGCCTGGAGATTCTACGCCACCAACCTCTCGCGCA
869320629	226679	NM_021220.3(OVOL2):c.-307T>C	OVOL2	Mar 30, 2016	Gene:8197,MedGen:CN029625,OMIM:122000	Posterior polymorphous corneal dystrophy 1	germline	20	18057941	GGACAGGTAGCGAGCTTGTTGACACCGTTATGTTGCAGGGCGCATGCTCAGTCCCAAGTTT
3735819	426523	NM_002052.4(GATA4):c.617-116T>C	GATA4	Jan 07, 2017	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11748803	AGAGCAAGAGCAGCCCGAGGTGGTCTTCTCTTTCCAAGGAAAGGGCATTGTTTCTGTGCGC
104893824	17261	NM_000551.3(VHL):c.334T>C (p.Tyr112His)	VHL	Jan 01, 1996	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10142181	CCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCG
199473403	67613	NM_000218.2(KCNQ1):c.1058T>C (p.Leu353Pro)	KCNQ1	Jul 11, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2585237	CCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCA
-1	446478	NM_003336.3(UBE2A):c.125+2T>C	UBE2A	Oct 06, 2017	MedGen:CN517202	not provided	germline	X	119574983	ATAATGGTGTGGAACGCGGTCATTTTCGGGTGAGTCTGCGTTCGTGGCGGTGGCGAGAAAA
28940591	17135	NM_000920.3(PC):c.434T>C (p.Val145Ala)	PC	Jul 21, 2011	MedGen:C0034341,OMIM:266150,SNOMED CT:87694001	Pyruvate carboxylase deficiency	germline	11	66871368	GGGTCCGGTTTATTGGGCCAAGCCCAGAAGTGGTCCGCAAGATGGGAGACAAGGTGGAGGC
863225423	214741	NR_023343.1(RNU4ATAC):n.118T>C	RNU4ATAC	Nov 02, 2015	Gene:57788,MedGen:C1846059,OMIM:616651,Orphanet:ORPHA353298	Roifman syndrome	germline	2	121530997	AACTAGAGCTTTTGCTTTATTTTGGTGCAATTTTTGGAAAAATGAAAACCTGTTTTCATAG
57639980	31864	NM_001927.3(DES):c.1034T>C (p.Leu345Pro)	DES	Nov 01, 1999	MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909;MedGen:CN517202	Myofibrillar myopathy 1;not provided	germline	2	219421350	GGGTTCCCCCTCTCCTGCAGAACGATTCCCTGATGAGGCAGATGCGGGAATTGGAGGACCG
587784288	169375	NM_000430.3(PAFAH1B1):c.841T>C (p.Cys281Arg)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2674229	GAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATT
748131256	245759	NM_000527.4(LDLR):c.722T>C (p.Phe241Ser)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11106592	CAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGG
1085307309	414257	NM_001204.6(BMPR2):c.1175T>C (p.Val392Ala)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532631	ATATGGCACCAGAAGTGCTAGAAGGAGCTGTGAACTTGAGGGACTGTGAATCAGCTTTGAA
786205008	187410	NM_005249.4(FOXG1):c.700T>C (p.Ser234Pro)	FOXG1	Sep 26, 2011	MedGen:C3150705,OMIM:613454	Rett syndrome, congenital variant	de novo	14	28767979	GGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGTGAAGGTGCCGC
863223343	189162	NM_024960.5(PANK2):c.419T>C (p.Phe140Ser)	PANK2	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	germline	20	3912514	TCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGG
1057519447	362147	NM_012160.4(FBXL4):c.419T>C (p.Val140Ala)	FBXL4	Aug 10, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98926570	CTTTTGAACAACAGGTGTATCCTACAGCTGTACATGTTCTAGAAACCTATCATCCCGGAGC
104893654	19255	NM_181457.3(PAX3):c.268T>C (p.Tyr90His)	PAX3	Sep 15, 2003	MedGen:C0342680,OMIM:148820,SNOMED CT:237918004	Klein-Waardenberg's syndrome	germline	2	222297031	CACGGCTGCGTCTCCAAGATCCTGTGCAGGTACCAGGAGACTGGCTCCATACGTCCTGGTG
1057524468	376404	NM_000070.2(CAPN3):c.1115+2T>C	CAPN3	Jan 04, 2017	MedGen:CN517202	not provided	germline	15	42394343	GTGGAGTGGAACGGTTCTTGGAGTGATAGGTAGGTGAGGGGACCCCACGGGATTGGCGGTG
1085307290	414234	NM_001204.6(BMPR2):c.1039T>C (p.Cys347Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202530865	AGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGA
-1	434325	NM_000527.4(LDLR):c.2039T>C (p.Leu680Pro)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120421	CCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCA
397515599	76707	NM_194248.2(OTOF):c.3413T>C (p.Leu1138Pro)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26473563	TGCACCCACCCTCCAACCTCTCCCAGGTGCTGTTCTGGGGCCTACGGGACCTAAAGCGGGT
80358259	18006	NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr)	NPC1	May 18, 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	23536736	TTATTGACGCTCTGAAGAAAGCCCGACTTATAGCCAGTAATGTCACCGAAACCATGGGCAT
397509375	32259	NM_000090.3(COL3A1):c.582+6T>C	COL3A1	May 01, 1993	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988140	TACATCTGGTCATCCTGGTTCCCCTGTAAGTATAGCCATTGGTGGTGTTTTCTTCCTCATT
869025194	181509	NM_006912.5(RIT1):c.244T>C (p.Phe82Leu)	RIT1	Jun 06, 2016	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN517202	Noonan syndrome;not provided	germline;unknown	1	155904496	ATAATGACCCTTGTTTCCCTCTAGGCAGAGTTTACAGCCATGCGGGACCAGTATATGAGGG
111033700	36518	NM_000155.3(GALT):c.482T>C (p.Leu161Pro)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647936	TTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTG
876661307	190032	NM_194292.2(SASS6):c.185T>C (p.Ile62Thr)	SASS6	Jun 02, 2015	MedGen:C4225338,OMIM:616402	Primary autosomal recessive microcephaly 14	germline	1	100123231	CGGATCCATTTTTTTTATATAACCTTGTTATATCTGAGGAAGATTTTCAAAGGTAACTAAA
-1	434307	NM_000527.4(LDLR):c.1705+2T>C	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116214	CATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGG
41469945	30694	NM_000517.4(HBA2):c.410T>C (p.Leu137Pro)	HBA1;HBA2	May 01, 1995	Human Phenotype Ontology:HP:0005511,MedGen:C0700299,OMIM:140700,Orphanet:ORPHA178330	Heinz body anemia	germline	16	173581	ACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTC
537053537	439659	NM_012268.3(PLD3):c.923T>C (p.Leu308Pro)	PLD3	Nov 20, 2017	MedGen:CN623018,OMIM:617770	SPINOCEREBELLAR ATAXIA 46	germline	19	40374524	CCCTGTGTCCAAGTGGCCGCACTCCAGACCTGAAGGCTCTACTCAACGTGGTGGACAATGC
121909655	31305	NM_182925.4(FLT4):c.3257T>C (p.Ile1086Thr)	FLT4	Oct 01, 2006	MedGen:C1704423,OMIM:153100,Orphanet:ORPHA79452,SNOMED CT:399889006	Hereditary lymphedema type I	germline	5	180614142	TGCCCCTGAAGTGGATGGCCCCTGAAAGCATCTTCGACAAGGTGTACACCACGCAGAGTGA
199474737	79193	NM_000267.3(NF1):c.1595T>C (p.Leu532Pro)	NF1	Nov 11, 2014	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31219072	CAGCAGAATTAATTACAGGGCTCGTCCAACTGGTCCCTCAGTCACACATGCCAGAGATTGC
199474762	79203	NM_001042492.2(NF1):c.2288T>C (p.Leu763Pro)	NF1	Apr 28, 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	31227254	CAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAA
28934878	27257	NM_000490.4(AVP):c.200T>C (p.Val67Ala)	AVP	Jan 01, 2004	Human Phenotype Ontology:HP:0000863,MedGen:C0687720,OMIM:125700,Orphanet:ORPHA178029,SNOMED CT:45369008	Neurohypophyseal diabetes insipidus	germline	20	3083099	TCTGCTGCGCGGACGAGCTGGGCTGCTTCGTGGGCACGGCTGAGGCGCTGCGCTGCCAGGA
180177287	200573	NM_000030.2(AGXT):c.851T>C (p.Leu284Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240877541	GCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGC
796052122	200975	NM_000263.3(NAGLU):c.1208T>C (p.Ile403Thr)	NAGLU	Mar 24, 2016	MedGen:C4225306,OMIM:616491,Orphanet:ORPHA447964;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal type 2V;not provided	germline	17	42543214	GCACTGCCTCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAA
1131691549	421851	NM_000280.4(PAX6):c.916+2T>C	PAX6	Sep 15, 2015	MedGen:CN517202	not provided	germline	11	31793650	CCAACCAATTCCACAACCCACCACACCGGGTAATTTGAAATACTAATACTACGAATCAATG
72552295	103056	NM_000531.5(OTC):c.2T>C (p.Met1Thr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38352698	AGAATCGTCCTTTACACAATTAAAAGAAGATGCTGTTTAATCTGAGGATCCTGTTAAACAA
121907940	178325	NM_000152.4(GAA):c.896T>C (p.Leu299Pro)	GAA	-	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80107837	CGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGG
121909326	23549	NM_001127221.1(CACNA1A):c.5126T>C (p.Ile1709Thr)	CACNA1A	Nov 24, 2014	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006;MedGen:C1832894,OMIM:141500;MedGen:C0752124,OMIM:183086,Orphanet:ORPHA98758	Episodic ataxia type 2;Familial hemiplegic migraine type 1;Spinocerebellar ataxia 6	de novo;germline	19	13235219	TCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAG
61295588	76672	NM_170707.3(LMNA):c.644T>C (p.Leu215Pro)	LMNA	Sep 19, 2013	MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;MedGen:CN517202	Dilated cardiomyopathy 1A;not provided	not provided	1	156134809	CTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCG
113543334	433558	NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)	FBN1	Jun 14, 2017	MedGen:CN169374	not specified	germline	15	48432944	GCCCAGAATCCTCTGCTCTGTGCCTTCCGATGTGTGAACACTTATGGGTCATATGAATGCA
104894472	17095	NM_152443.2(RDH12):c.523T>C (p.Ser175Pro)	RDH12	Oct 01, 2004	MedGen:C2675186,OMIM:612712	Leber congenital amaurosis 13	germline	14	67727055	TCTGCCCCTGCACGGGTGGTTAATGTGTCCTCGGTGGCTCACCACATTGGCAAGATTCCCT
-1	434261	NM_000527.4(LDLR):c.886T>C (p.Cys296Arg)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107460	AGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGT
765471424	421621	NM_018238.3(AGK):c.297+2T>C	AGK	Sep 12, 2015	MedGen:CN517202	not provided	germline	7	141601282	TATCTGGCATGGATGTGACTATTGTTAAGGTAAGAATGGCTCCTGAATGTTTATTTCACCC
104893684	28267	NM_000055.3(BCHE):c.1004T>C (p.Leu335Pro)	BCHE	Jun 14, 2017	MedGen:C1283400,OMIM:177400,Orphanet:ORPHA132,SNOMED CT:360589003	Deficiency of butyrylcholine esterase	germline;unknown	3	165830030	ATTTTCTCACTGACATGCCAGACATATTACTTGAACTTGGACAATTTAAAAAAACCCAGAT
1057517761	359250	NM_005373.2(MPL):c.1468+2T>C	MPL	Mar 11, 2015	MedGen:CN517202	not provided	germline	1	43349004	AACTAGGGTGGAGACCGCCACCGAGACCGGTGAGGCAAGCCCCGGCCGCACCAAAGCCGCA
-1	461979	NM_001360.2(DHCR7):c.970T>C (p.Tyr324His)	DHCR7	Mar 07, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	germline	11	71435833	GACCCCTTCCCCCTCGCCCCCCAGGGTCTGTACTTGGTGTACCACCCCGTGCAGCTGTCCA
104893744	29312	NM_198159.2(MITF):c.1051T>C (p.Ser351Pro)	MITF	Nov 01, 1995	MedGen:C1860339,OMIM:193510	Waardenburg syndrome type 2A	germline	3	69959310	CGCTGGAACAAGGGAACCATCTTAAAAGCATCCGTGGACTATATCCGAAAGTTGCAACGAG
267607232	33480	NM_004268.4(MED17):c.1112T>C (p.Leu371Pro)	MED17	Nov 12, 2010	MedGen:C3150921,OMIM:613668,Orphanet:ORPHA402364	Microcephaly, postnatal progressive, with seizures and brain atrophy	germline	11	93796509	AGCAATGTCCGGAGGACCACCTTTATGTCCTAGAGCATAATTTGCATCTACTGATTAGAGA
104894380	27331	NM_080911.2(UNG):c.752T>C (p.Phe251Ser)	UNG	Jun 20, 2005	MedGen:C1720958,OMIM:608106,Orphanet:ORPHA101092	Immunodeficiency with hyper IgM type 5	germline	12	109103562	GGCTAAATCAGAACTCGAATGGCCTTGTTTTCTTGCTCTGGGGCTCTTATGCTCAGAAGAA
199474820	24604	m.7510T>C	MT-TS1	Jul 03, 2014	MedGen:C3151897,OMIM:500008	Deafness, nonsyndromic sensorineural, mitochondrial	germline	MT	7510	TTTCAAGCCAACCCCATGGCCTCCATGACTTTTTCAAAAAGGTATTAGAAAAACCATTTCA
606231433	170991	NM_152296.4(ATP1A3):c.1112T>C (p.Leu371Pro)	ATP1A3	May 04, 2014	MedGen:C3553788,OMIM:614820	Alternating hemiplegia of childhood 2	de novo	19	41981988	CCACCATCTGCTCAGATAAGACAGGGACCCTCACTCAGAACCGCATGACAGTCGCCCACAT
749464475	481359	NM_080916.2(DGUOK):c.749T>C (p.Leu250Ser)	DGUOK	Nov 08, 2017	MedGen:C3151513,OMIM:251880,Orphanet:ORPHA279934	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	maternal	2	73958187	AGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGT
80357281	70177	NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro)	BRCA1	Jan 31, 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	43051104	TTCCTCTCTTCTTCCAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAA
587783653	169295	NM_005682.6(ADGRG1):c.1460T>C (p.Leu487Pro)	ADGRG1	Feb 08, 2013	MedGen:C1847352,OMIM:606854,Orphanet:ORPHA101070	Polymicrogyria, bilateral frontoparietal	germline	16	57659568	CCAGTGCCATCTTCCTGCACTTCTCCCTGCTCACCTGCCTTTCCTGGATGGGCCTCGAGGG
60440396	29668	NM_153490.2(KRT13):c.356T>C (p.Leu119Pro)	KRT13	Dec 01, 1995	MedGen:C4014321,OMIM:615785;MedGen:CN517202	White sponge nevus 2;not provided	germline	17	41505195	AGAACCTCAACGACCGCCTGGCTTCCTACCTGGAGAAGGTGCGCGCCCTGGAGGAGGCCAA
137854558	15394	NM_000267.3(NF1):c.1523T>C (p.Leu508Pro)	NF1	Feb 01, 2003	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31214581	AACTAATTCATGCAGATCCAAAGCTCTTGCTTTGTGTAAGTATTTTTTTATGAAATGTCTC
-1	480765	NM_021911.2(GABRB2):c.830T>C (p.Leu277Ser)	GABRB2	Jan 22, 2018	MedGen:CN757794,OMIM:617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	germline	5	161334754	ATTACGATGCTTCAGCTGCAAGGGTGGCATTAGGTAGGCCATTTTATTACTGCTTGTGGAT
879254502	362674	NM_000527.4(LDLR):c.377T>C (p.Phe126Ser)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105283	GCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGA
1131691702	421910	NM_000834.4(GRIN2B):c.1576T>C (p.Ser526Pro)	GRIN2B	May 12, 2017	MedGen:CN517202	not provided	germline	12	13615192	AATGAGGAACGATCGGAGGTGGTCGACTTCTCTGTGCCCTTCATAGAGACAGGCATCAGTG
768814872	186982	NM_000023.3(SGCA):c.371T>C (p.Ile124Thr)	SGCA	Jan 14, 2016	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle muscular dystrophy, type 2D	germline;unknown	17	50168005	ATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGC
199472716	67763	NM_000218.2(KCNQ1):c.752T>C (p.Leu251Pro)	KCNQ1	Jun 23, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2572081	TCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGT
121912567	23604	NM_000901.4(NR3C2):c.2936T>C (p.Leu979Pro)	NR3C2	Jun 01, 2003	MedGen:C1449842,OMIM:177735,Orphanet:ORPHA171871	Pseudohypoaldosteronism type 1 autosomal dominant	germline	4	148081363	CCAAGGTGGAGTCGGGGAACGCCAAGCCGCTCTACTTCCACCGGAAGTGACTGCCCGCTGC
587777844	166239	NM_032551.4(KISS1R):c.937T>C (p.Tyr313His)	KISS1R	Jan 01, 2013	MedGen:C4016875	Hypogonadotropic hypogonadism 8 without anosmia	germline	19	920488	GCGCTTAAGACCTGGGCTCACTGCATGTCCTACAGCAACTCCGCGCTGAACCCGCTGCTCT
587783780	170052	NM_000252.2(MTM1):c.1353+2T>C	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150659758	TTGATTGTGTGTGGCAAATGTCAAAACAGGTAAGGAATATGAGGGATGAAAATACATTCAA
119103283	17227	NM_207352.3(CYP4V2):c.332T>C (p.Ile111Thr)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	germline	4	186196007	CTAAAGTATGTTTTTCTCTTCCTAAGGTAATTTTAACTAGTTCAAAGCAAATTGACAAATC
104894032	15102	NM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro)	OPN1SW	Mar 01, 1992	MedGen:C0155017,OMIM:190900,Orphanet:ORPHA88629	Tritanopia	germline	7	128774545	CTCTTCATCTTCTGCTTCATTGTGCCTCTCTCCCTCATCTGCTTCTCCTACACTCAGCTGC
104894703	20798	NM_032551.4(KISS1R):c.305T>C (p.Leu102Pro)	KISS1R	Jan 01, 2013	MedGen:C4016875	Hypogonadotropic hypogonadism 8 without anosmia	germline	19	918604	TCCTGTGCTGCGTCCCCTTCACGGCCCTGCTGTACCCGCTGCCCGGCTGGGTGCTGGGCGA
886041334	265122	NM_000206.2(IL2RG):c.2T>C (p.Met1Thr)	IL2RG	Apr 13, 2016	MedGen:CN517202	not provided	germline	X	71111538	CTACACCCAGGGAATGAAGAGCAAGCGCCATGTTGAAGCCATCATTACCATTCACATCCCT
121912300	47534	NM_001363.4(DKC1):c.1049T>C (p.Met350Thr)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154773143	TTTATTCAATGCCTGTAGCTATTGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCA
587777195	106829	NM_005017.3(PCYT1A):c.571T>C (p.Phe191Leu)	PCYT1A	Mar 06, 2014	MedGen:C1837073,OMIM:608940,Orphanet:ORPHA85167	Spondylometaphyseal dysplasia with cone-rod dystrophy	germline	3	196242085	TTGTCTGTATGTGTTTCTGAGTTAGGCATGTTTGCTCCAACACAGAGGACAGAAGGTATCT
766074609	268330	NM_000152.4(GAA):c.1064T>C (p.Leu355Pro)	GAA	May 19, 2016	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline;unknown	17	80108398	CAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGGGTAGGGCCTGCTCCCTGGC
886041836	264693	NM_001009944.2(PKD1):c.1722+2T>C	PKD1	Jun 23, 2016	MedGen:CN517202	not provided	germline	16	2116527	GCCTCTCAGCCCCGCACGAGCCCGTGGAGGTAGTCGGCCCCCCACGTTCTACAACCTGCCC
863225041	213897	NM_001203.2(BMPR1B):c.157T>C (p.Cys53Arg)	BMPR1B	Jun 01, 2014	MedGen:C4225404,OMIM:609441	Acromesomelic dysplasia, Demirhan type	germline	4	95114733	GCTTGTTTGATCTTCAGCACAGACGGATATTGTTTCACGATGATAGAAGAGGATGACTCTG
34975911	30111	NM_000519.3(HBD):c.-127T>C	HBD	Sep 01, 1992	MedGen:C0271990,SNOMED CT:16427007	delta Thalassemia	germline	11	5234560	TTCATTCTCACAAACTAATGAAACCCTGCTTATCTTAAACCAACCTGCTCACTGGAGCAGG
121965037	15189	NM_000274.3(OAT):c.163T>C (p.Tyr55His)	OAT	Feb 15, 1992	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124412009	GAAAGGGAATATAAGTATGGTGCACACAACTACCATCCTTTACCTGTAGCCCTGGAGAGAG
111033666	36478	NM_000155.3(GALT):c.265T>C (p.Tyr89His)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647504	GCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACT
104894946	26373	NM_001109878.1(TBX22):c.641T>C (p.Leu214Pro)	TBX22	Oct 15, 2002	MedGen:C1844831	Cleft palate with ankyloglossia	germline	X	80026711	AGCATTGATCATTTCTCCTCCAGATCATTCTGCAATCCATGCATAAGTACAAACCCCGAGT
267607209	21258	NM_004737.5(LARGE1):c.1483T>C (p.Trp495Arg)	LARGE1	May 26, 2009	MedGen:C3150414,OMIM:613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	germline	22	33304476	CTCCAGATGCTGGAGGCCATCTGCAAGCACTGGGAGGGGCCCATCAGCCTGGCCCTCTACC
199474821	24605	m.7511T>C	MT-TS1	Jul 03, 2014	MedGen:C3151897,OMIM:500008	Deafness, nonsyndromic sensorineural, mitochondrial	germline	MT	7511	TTCAAGCCAACCCCATGGCCTCCATGACTTTTTCAAAAAGGTATTAGAAAAACCATTTCAT
33941849	44974	NM_000518.4(HBB):c.2T>C (p.Met1Thr)	HBB	Jul 10, 2017	MedGen:C4017528;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:C0271980,SNOMED CT:86715000;MedGen:CN517202;MedGen:CN169374	Beta-thalassemia, lermontov type;beta Thalassemia;beta^0^ Thalassemia;not provided;not specified	germline;unknown	11	5227020	GTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGC
-1	244070	NM_033116.4(NEK9):c.1817T>C (p.Ile573Thr)	NEK9	Jul 12, 2016	MedGen:C0265987,OMIM:617025,Orphanet:ORPHA64754	Nevus comedonicus	somatic	14	75103855	AGCTGGGTCTGAATCAGTGCATGTCGGGAATTATCAACCATGAAGTGAGTGTCCTGATTGG
796065355	204585	NM_003995.3(NPR2):c.226T>C (p.Ser76Pro)	NPR2	Oct 01, 2013	MedGen:C4225399,OMIM:616255	Short stature with nonspecific skeletal abnormalities	germline	9	35792634	TTTGTCAGCTCCGAACTGGAAGGCGCCTGCTCTGAGTACCTGGCACCGCTGAGCGCTGTGG
77316810	28954	NM_020630.4(RET):c.1858T>C (p.Cys620Arg)	RET	Nov 01, 2017	MedGen:C0027672,SNOMED CT:699346009;na;MedGen:CN073359,Orphanet:ORPHA653,SNOMED CT:61808009;MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:ORPHA247698,SNOMED CT:61808009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MEN2A and FMTC;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;not provided	germline	10	43113654	AACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGG
587776447	165897	NM_002775.4(HTRA1):c.1091T>C (p.Leu364Pro)	HTRA1	Sep 11, 2014	MedGen:C1838577,OMIM:600142,Orphanet:ORPHA199354	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	germline	10	122508741	CAATCCCATCTGATAAGATTAAAAAGTTCCTCACGGAGTCCCATGACCGACAGGCCAAAGG
778408161	246371	NM_000527.4(LDLR):c.1845+2T>C	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11117000	CCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAG
111033824	36669	NM_000155.3(GALT):c.1138T>C (p.Ter380Arg)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34650447	CAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCT
397516654	53352	NM_001399.4(EDA):c.1094T>C (p.Val365Ala)	EDA	Jul 18, 2017	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005;MedGen:C1970757,OMIM:313500	Hypohidrotic X-linked ectodermal dysplasia;Tooth agenesis, selective, X-linked, 1	germline	X	70035527	AGGCCCGGCAGAAGATCGCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAA
387907129	40135	NM_024599.5(RHBDF2):c.557T>C (p.Ile186Thr)	RHBDF2	Feb 10, 2012	MedGen:C1835664,OMIM:148500,Orphanet:ORPHA2198	Howel-Evans syndrome	germline	17	76479008	GCTCTGCTTACCGCCCCCCTCCCTTCCAGATTGTGGATCCGCTGGCCCGGGGCCGGGCCTT
879254913	246171	NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113639	GGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGT
1057524917	380291	NM_032045.4(KREMEN1):c.626T>C (p.Phe209Ser)	KREMEN1	Mar 13, 2017	MedGen:CN240911,OMIM:617392	Ectodermal dysplasia 13, hair/tooth type	germline	22	29125411	CCTGTGGTGGCGATGGCAGGATCATCCTCTTTGATAGTGAGTATGCCCTGTGCCCATCACT
74315447	21092	NM_172201.1(KCNE2):c.161T>C (p.Met54Thr)	KCNE2	Sep 26, 2017	MedGen:C0003811,OMIM:115000;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN239320;MedGen:C3150953,OMIM:613693;MedGen:CN517202	Cardiac arrhythmia;Congenital long QT syndrome;KCNE2-Related Disorders;Long QT syndrome 6;not provided	germline	21	34370639	AGAACTTCTACTATGTCATCCTGTACCTCATGGTGATGATTGGAATGTTCTCTTTCATCAT
33956879	44998	NM_000518.4(HBB):c.92+2T>C	HBB	Jun 14, 2017	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202	beta Thalassemia;not provided	germline	11	5226928	GATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTTTAAGG
121918079	28477	NM_000371.3(TTR):c.224T>C (p.Leu75Pro)	TTR	Jun 01, 1994	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31595143	CTTATAGGAAAACCAGTGAGTCTGGAGAGCTGCATGGGCTCACAACTGAGGAGGAATTTGT
154774633	39556	NM_017882.2(CLN6):c.200T>C (p.Leu67Pro)	CLN6	May 13, 2011	MedGen:C0022797,OMIM:204300,SNOMED CT:62009002;MedGen:CN517202	Adult neuronal ceroid lipofuscinosis;not provided	germline	15	68214387	GTGAGCCCATTCTTCCATTTGCTCCGCAGCTGGTATTCCCTCTCGAGTGGTTTCCACTCAA
137854433	27741	NM_003235.4(TG):c.3229T>C (p.Cys1077Arg)	TG	Aug 01, 2006	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	Iodotyrosyl coupling defect	germline	8	132898809	GCACCTCTCTCTCCCACAGGCCCGACAACCTGCGAGAAATCTCGAACCAGTGGGCTGCTTT
727504814	190369	NM_001399.4(EDA):c.396+2T>C	EDA	Mar 25, 2015	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005	Hypohidrotic X-linked ectodermal dysplasia	germline	X	69616706	TCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCC
587779423	106854	NM_000090.3(COL3A1):c.951+6T>C (p.Gly300_Ala317del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991728	ACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCC
104894937	26147	NM_000116.4(TAZ):c.352T>C (p.Cys118Arg)	TAZ	Mar 06, 2001	MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED CT:297231002	3-Methylglutaconic aciduria type 2	germline	X	154413549	CTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCTGTGTGCCGAGGTGAGCTGCTCC
80338846	34203	NM_003002.3(SDHD):c.284T>C (p.Leu95Pro)	SDHD	Aug 30, 2012	MedGen:C1708353,Orphanet:ORPHA29072	Hereditary Paraganglioma-Pheochromocytoma Syndromes	not provided	11	112088981	TGAATCCTTGCTCTGCGATGGACTATTCCCTGGCTGCAGCCCTCACTCTTCATGGTCACTG
118203911	15694	NM_000130.4(F5):c.1160T>C (p.Ile387Thr)	F5	May 01, 2004	MedGen:C1861171,OMIM:188055	Thrombophilia due to activated protein C resistance	germline	1	169552693	CTCAGCATTTGGATAATTTCTCAAACCAAATTGGAAAACATTATAAGAAAGTTATGTACAC
756232889	485790	NM_005912.2(MC4R):c.838T>C (p.Phe280Leu)	MC4R	Mar 12, 2013	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline	18	60371512	TCTTGTCCTCAGAATCCATATTGTGTGTGCTTCATGTCTCACTTTAACTTGTATCTCATAC
727503261	175481	NM_000257.3(MYH7):c.2207T>C (p.Ile736Thr)	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	23425774	ACCCAGCGGCCATCCCTGAGGGACAGTTCATTGATAGCAGGAAGGGGGCAGAGAAGCTGCT
387906508	27129	NM_000131.4(F7):c.983T>C (p.Phe328Ser)	F7	Nov 29, 1996	MedGen:C0015503,OMIM:227500,Orphanet:ORPHA327,SNOMED CT:37193007	Factor VII deficiency	germline	13	113118590	TGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTT
431905512	102897	NM_003764.3(STX11):c.173T>C (p.Leu58Pro)	STX11	Jan 14, 2014	MedGen:C1863728,OMIM:603552	Hemophagocytic lymphohistiocytosis, familial, 4	germline	6	144186800	TCCGGGACATTCAGGATGAAAACCAGCTGCTGGTGGCCGACGTGAAGCGGCTGGGAAAGCA
63751616	95345	NM_000249.3(MLH1):c.1745T>C (p.Leu582Pro)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37047532	TTCTTGCTTCTTCCTAGGAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAG
121913084	31551	NM_000043.5(FAS):c.532T>C (p.Cys178Arg)	FAS	Apr 11, 2013	MedGen:C4016044	SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC	somatic	10	89010779	ACAGGATCCAGATCTAACTTGGGGTGGCTTTGTCTTCTTCTTTTGCCAATTCCACTAATTG
864309509	215030	NM_052845.3(MMAB):c.287T>C (p.Ile96Thr)	MMAB	Jan 07, 2016	MedGen:C1855102,OMIM:251110,Orphanet:ORPHA79311	Methylmalonic aciduria cblB type	germline	12	109568773	TGGGAACTACAGATGAATTAAGTTCAGCTATTGGGTAAGGGGGACAGGATTGGCCTTGAGG
606231449	170989	NM_152296.4(ATP1A3):c.1250T>C (p.Leu417Pro)	ATP1A3	May 04, 2014	MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Dystonia 12	germline	19	41981774	CCTGGGTGGCCCTGTCTCACATCGCTGGGCTCTGCAATCGCGCTGTCTTCAAGGGTGGTCA
587777353	132658	NM_032575.2(GLIS2):c.523T>C (p.Cys175Arg)	GLIS2	Feb 10, 2016	MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008;MedGen:C1969092,OMIM:611498	Nephronophthisis;Nephronophthisis 7	germline	16	4335060	TGGGCTCAGAACACTTCCCATCCTCCGCAGTGTAACCAGCTCTTTGAGCTCCTGCAAGACC
190521996	186953	NM_000303.2(PMM2):c.470T>C (p.Phe157Ser)	PMM2	Jul 05, 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;paternal;unknown	16	8811660	TTTCTCAGAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGG
762666243	440148	NM_001080463.1(DYNC2H1):c.5558+2T>C	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	11	103173307	AAATTGGTAGCTATTTTCAATCTATCTAGGTGAGTTTTCTTGTTCTAAATATTTTTATATT
-1	481991	NM_000536.3(RAG2):c.2T>C (p.Met1Thr)	RAG2	Jan 11, 2018	MedGen:CN517202	not provided	germline	11	36594167	AGACAAAAATCTACGTACCATCAGAAACTATGTCTCTGCAGATGGTAACAGTCAGTAATAA
869320628	226678	NM_021220.3(OVOL2):c.-370T>C	OVOL2	Mar 30, 2016	Gene:8197,MedGen:CN029625,OMIM:122000	Posterior polymorphous corneal dystrophy 1	germline	20	18058004	TTTTGCAAACATTCATGCCTAAGGAAGGGCTGGAACAGGCAGCCCCGGCCGCCGGAACCGG
397515348	18801	NM_000375.2(UROS):c.-26-177T>C	UROS	Apr 07, 2016	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	germline	10	125816702	CAACTGCTAACATGCTCTTTCTTGGCCTTATCAGTGACAGGGGTCTTCAGAAAGAACAAGC
104894931	26671	NM_006517.4(SLC16A2):c.1313T>C (p.Leu438Pro)	SLC16A2	Jan 01, 2004	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59	Allan-Herndon-Dudley syndrome	germline	X	74529355	TCACCATCATGGCCCCCATTGCATTTGAGCTGGTGGGCCCAATGCAGGCCTCACAGGCCAT
61755802	104581	NM_000322.4(PRPH2):c.637T>C (p.Cys213Arg)	PRPH2	Oct 01, 2013	MedGen:CN224078;MedGen:C1868569,OMIM:169150,Orphanet:ORPHA63454;MedGen:CN517202	Leber congenital amaurosis 18;Patterned dystrophy of retinal pigment epithelium;not provided	germline	6	42704556	CGGTACCTGGTGGACGGCGTCCCTTTCAGCTGCTGCAATCCTAGCTCGCCACGGCCCTGCA
778606847	448406	NM_022787.3(NMNAT1):c.716T>C (p.Leu239Ser)	NMNAT1	Aug 09, 2017	MedGen:C1837873,OMIM:608553	Leber congenital amaurosis 9	germline	1	9982577	CCCTCAGAAGGGGCCAGAGCATTCGCTACTTGGTACCAGATCTTGTCCAAGAATACATTGA
199473460	67776	NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro)	KCNQ1	Sep 15, 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	2572862	GTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTC
104893865	15531	NM_000320.2(QDPR):c.106T>C (p.Trp36Arg)	QDPR	Oct 01, 1997	MedGen:C0268465,OMIM:261630,Orphanet:ORPHA226,SNOMED CT:58256000	Dihydropteridine reductase deficiency	germline	4	17509363	CTCTTAACCAAAGCTGTTTTCTCCTTCCAGTGGGTTGCCAGCGTTGATGTGGTGGAGAATG
879253886	244677	NM_002180.2(IGHMBP2):c.1060+2T>C	IGHMBP2	Mar 25, 2016	MedGen:CN517202	not provided	germline	11	68917885	GGCAAACGTGGTCCTTGCAACAAACACAGGTGAGGGGGCGTCTCCATCCTGCCTGTGTGGC
137853133	20784	NM_005094.3(SLC27A4):c.739T>C (p.Ser247Pro)	SLC27A4	Aug 01, 2009	MedGen:C1837610,OMIM:608649,Orphanet:ORPHA88621	Ichthyosis prematurity syndrome	germline	9	128350335	TCTTTAGATAAACTGTTCTACATCTACACATCCGGCACCACAGGGCTGCCCAAGGCCGCCA
1114167455	418799	NM_001034852.2(SMOC1):c.367T>C (p.Ser123Pro)	SMOC1	-	MedGen:C0599973,OMIM:206920	Anophthalmos with limb anomalies	inherited	14	69953521	GTGTTTGTCCCAGAGTGTGGCGAGGATGGCTCCTTTACCCAGGTGAGGCCTCGGACAATCC
132630300	26107	NM_032458.2(PHF6):c.2T>C (p.Met1Thr)	PHF6	Jun 29, 2017	MedGen:C0265339,OMIM:301900,SNOMED CT:21634003	Borjeson-Forssman-Lehmann syndrome	germline	X	134377619	AGTGGCATTCTAAAGGCAATTTAAAAATCATGTCAAGCTCAGTTGAACAGAAAAAAGGGCC
794727808	195399	NM_020451.2(SELENON):c.872+2T>C	SELENON	Feb 20, 2015	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	Congenital myopathy with fiber type disproportion;Eichsfeld type congenital muscular dystrophy	germline	1	25809152	AGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCAC
397514707	65667	NM_014845.5(FIG4):c.524T>C (p.Leu175Pro)	FIG4	May 02, 2013	MedGen:C1857663,OMIM:216340,Orphanet:ORPHA3472	Yunis Varon syndrome	germline	6	109735176	TCAGTTACAGCTATGATTTGTCCCACTCACTTCAATATAATCTCACTGTCTTGCGAATGCC
72554346	103048	NM_000531.5(OTC):c.284T>C (p.Leu95Ser)	OTC	-	MedGen:CN517202	not provided	unknown	X	38369863	TTTTTGAGAAAAGAAGTACTCGAACAAGATTGTCTACAGAAACAGGTAAGTCCACTGCCAA
79977247	28469	NM_000371.3(TTR):c.149T>C (p.Val50Ala)	TTR	Feb 01, 1992	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31592975	TCCGAGGCAGTCCTGCCATCAATGTGGCCGTGCATGTGTTCAGAAAGGCTGCTGATGACAC
137852376	25188	NM_000132.3(F8):c.1754T>C (p.Ile585Thr)	F8	Sep 14, 2012	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154954041	TTACCCCTTTCAATATATGTAATTAACAGATAATGTCAGACAAGAGGAATGTCATCCTGTT
28931575	32970	NM_000039.2(APOA1):c.341T>C (p.Leu114Pro)	APOA1	Jan 01, 1999	MedGen:C4015843	Amyloidosis, cardiac and cutaneous	germline	11	116836271	AGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTA
121909076	22401	NM_003322.5(TULP1):c.1145T>C (p.Phe382Ser)	TULP1	Dec 01, 2004	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C1838603,OMIM:600132	Retinitis pigmentosa;Retinitis pigmentosa 14	germline	6	35503816	CCAACCTCCTGGGGAACCGCTTCACGGTCTTTGACAACGGGCAGAACCCACAGCGTGGGTA
28934568	27544	NM_003242.5(TGFBR2):c.923T>C (p.Leu308Pro)	TGFBR2	Apr 01, 2010	MedGen:C2674876,OMIM:610168	Loeys-Dietz syndrome 2	germline	3	30672106	ATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGG
118192138	76869	NM_000540.2(RYR1):c.13949T>C (p.Leu4650Pro)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38572221	TGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCAT
59629244	29650	NM_000526.4(KRT14):c.1151T>C (p.Leu384Pro)	KRT14	Nov 22, 1991	MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:90496008;MedGen:CN517202	Epidermolysis bullosa simplex, Koebner type;not provided	germline	17	41583358	AGGAGATGATTGGCAGCGTGGAGGAGCAGCTGGCCCAGCTCCGCTGCGAGATGGAGCAGCA
587776514	15535	NM_173560.3(RFX6):c.380+2T>C	RFX6	Feb 11, 2010	MedGen:C2748662,OMIM:615710,Orphanet:ORPHA293864	Mitchell-Riley syndrome	germline	6	116877954	AAGAAGCAGACACAGCTCACGCTGCAGTGGTGAGACTCGCCCGCAGGGTACACTGAAGCAC
121908934	21655	NM_004086.2(COCH):c.1535T>C (p.Met512Thr)	COCH	Apr 01, 2008	MedGen:C1832425,OMIM:601369	Deafness, autosomal dominant 9	germline	14	30889673	CTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTT
-1	481646	NM_004238.2(TRIP12):c.1455+2T>C	TRIP12	Nov 07, 2017	MedGen:CN517202	not provided	germline	2	229818362	TTCCTGTCAAGAGTGTTGTTCCAGCTTTGGTAAGCATAATGTTTTTCCCTCGTTTTTACCT
606231280	167461	NM_014139.2(SCN11A):c.1142T>C (p.Ile381Thr)	SCN11A	Jun 01, 2014	MedGen:C3809899,OMIM:615552,Orphanet:ORPHA391392	Episodic pain syndrome, familial, 3	germline	3	38909154	CTACTGGGCTCTACTCAGTCTTCTTCTTCATTGTGGTCATTTTCCTGGGCTCCTTCTACCT
104894911	26464	NM_022567.2(NYX):c.302T>C (p.Ile101Thr)	NYX	Jan 01, 2006	MedGen:C1839601,OMIM:310500	Congenital stationary night blindness, type 1A	germline	X	41473755	TGTCGCTGCGCCACAACAACCTGTCCTTCATCACGCCCGGCGCCTTCAAGGGCCTGCCGCG
869312719	225894	NM_017671.4(FERMT1):c.1675T>C (p.Trp559Arg)	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6084083	GTCGAAGCCAAGCTGCGGTTCATCCAGGCGTGGCAGTCACTGCCTGAGTTTGGCCTCACCT
1085307196	414127	NM_001204.6(BMPR2):c.250T>C (p.Cys84Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467521	CCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGT
267607115	16420	NM_153704.5(TMEM67):c.1769T>C (p.Phe590Ser)	TMEM67	Feb 23, 2015	MedGen:C1857662,OMIM:216360,Orphanet:ORPHA1454;MedGen:C1853153,OMIM:610688	COACH syndrome;Joubert syndrome 6	germline;unknown	8	93795503	TGGGAACAGGTCTTTACTGGCTTATTTTCTTCAAAGTGAGTGAGTTTCTGAATTTTCCCCA
886041990	264134	NM_153240.4(NPHP3):c.2T>C (p.Met1Thr)	NPHP3	Sep 09, 2016	MedGen:CN517202	not provided	germline	3	132722354	CTCACTAGGTAGTAGCGGCAACGGACGCCATGGGGACCGCCTCGTCGCTCGTGAGCCCCGC
387906672	38790	NM_001111035.2(ACP5):c.602T>C (p.Leu201Pro)	ACP5	Feb 01, 2011	MedGen:C1842763,OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	germline	19	11576376	AGCTGGCGGCGGCCAGGGAGGACTACGTGCTGGTGGCTGGCCACTACCCCGTGTGGTCCAT
104894370	29107	NM_000432.3(MYL2):c.52T>C (p.Phe18Leu)	MYL2	Nov 17, 2015	MedGen:CN230736;MedGen:C1834460,OMIM:608758	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 10	germline	12	110919145	AAGAGAGCCGGGGGCGCCAACTCCAACGTGTTCTCCATGTTCGAACAGACCCAAATCCAGG
121908903	21427	NM_003880.3(WISP3):c.1000T>C (p.Ser334Pro)	WISP3	Jul 01, 2004	MedGen:C0432215,OMIM:208230,Orphanet:ORPHA1159,SNOMED CT:254065005	Progressive pseudorheumatoid dysplasia	germline	6	112069555	TCATTTAAATGGAAGATGCTGTGGATTACATCTTGTGTGTGTCAGAGAAACTGCAGAGAAC
797044579	188175	NM_002055.4(GFAP):c.791T>C (p.Leu264Pro)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44911787	CATATGTGTCCCCCACCTAGTTTGCAGACCTGACAGACGCTGCTGCCCGCAACGCGGAGCT
794728238	197671	NM_000138.4(FBN1):c.5746T>C (p.Cys1916Arg)	FBN1	Feb 09, 2014	MedGen:CN517202	not provided	germline	15	48446748	CGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACA
876661055	231838	NM_000834.4(GRIN2B):c.2252T>C (p.Ile751Thr)	GRIN2B	Jul 18, 2017	MedGen:CN517202	not provided	germline	12	13569937	GCAGAGATGAAGGCTGCAAGCTGGTGACCATTGGCAGTGGGAAGGTCTTTGCTTCCACTGG
869312816	226426	NM_033419.4(PGAP3):c.511T>C (p.Cys171Arg)	PGAP3	Mar 01, 2016	MedGen:C3810354,OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	germline	17	39674039	CTTCCCTGTCCTCAGAAAATGGACTACTTCTGTGCCTCCACTGTCATCCTACACTCAATCT
886037937	248786	NM_004434.2(EML1):c.673T>C (p.Trp225Arg)	EML1	Sep 19, 2016	MedGen:C1838239,OMIM:600348	Band heterotopia	germline	14	99894754	GAACTTCCAACCAAGAGACTCAAGCTGGAATGGGTGTATCCTTTATTCATTGATTAGGTCT
74315326	17407	NM_213653.3(HJV):c.842T>C (p.Ile281Thr)	HJV	Oct 01, 2004	MedGen:C1865614,OMIM:602390	Hemochromatosis type 2A	germline	1	146018516	GGAACCATGTGGAGATCCAAGCTGCCTACATTGGCACAACTATAATCATTCGGCAGACAGC
863225468	214932	NM_000324.2(RHAG):c.194T>C (p.Phe65Ser)	RHAG	May 01, 2013	MedGen:C1861455,OMIM:185000,Orphanet:ORPHA3203	Stomatocytosis I	germline	6	49619326	AAGATGTACATGTTATGATATTTGTTGGGTTTGGCTTCCTCATGACCTTCCTGAAGAAATA
730882161	181306	NM_001195129.1(PRSS56):c.1183T>C (p.Cys395Arg)	PRSS56	Jan 01, 2011	MedGen:C3150757,OMIM:613517	Microphthalmia, isolated 6	germline	2	232523942	CACCAGCAGTGCCTGCAGCGCCGGCGGCGATGCGGTCAGTTCTGTTCACCCGGACCCGGAC
886041240	264773	NM_004782.3(SNAP29):c.2T>C (p.Met1Thr)	SNAP29	Feb 06, 2017	MedGen:C1837355,OMIM:608804,Orphanet:ORPHA280270;MedGen:CN517202	Leukodystrophy, hypomyelinating, 2;not provided	germline;paternal	22	20859112	TTTCCCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTAAAAGCTACAATCCGTT
797045036	205733	NM_016302.3(CRBN):c.1171T>C (p.Cys391Arg)	CRBN	Sep 01, 2017	MedGen:C1843942,OMIM:607417;MedGen:CN517202	Mental retardation, autosomal recessive 2;not provided	germline	3	3151023	TTTCTTAGGTATGCCTGGACTGTTGCCCAGTGTAAGATCTGTGCAAGCCATATTGGATGGA
121909498	24483	NM_002427.3(MMP13):c.221T>C (p.Phe74Ser)	MMP13	Aug 01, 2009	MedGen:C4016643	Metaphyseal anadysplasia 1, autosomal dominant	germline	11	102955393	TGACTGAGAGGCTCCGAGAAATGCAGTCTTTCTTCGGCTTAGAGGTGACTGGCAAACTTGA
-1	481220	NM_017780.3(CHD7):c.5210+2T>C	CHD7	Oct 27, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	de novo	8	60845411	AAGAAACACCTGAAGCATCACTGTAACAAGTATGTTATTAGAGGGTGGACCTGGAGAGCTT
28937896	19418	NM_001243133.1(NLRP3):c.1058T>C (p.Leu353Pro)	NLRP3	Oct 03, 2016	MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000;MedGen:CN517202	Familial cold urticaria;not provided	germline	1	247424507	CTCTGCTCATCACCACGAGACCTGTGGCCCTGGAGAAACTGCAGCACTTGCTGGACCATCC
1060503510	394608	NM_001999.3(FBN2):c.4306T>C (p.Cys1436Arg)	FBN2	May 03, 2017	MedGen:C0220668,OMIM:121050,Orphanet:ORPHA115,SNOMED CT:205821003	Congenital contractural arachnodactyly	germline	5	128330612	GTAAATACCCCGGGCTCATACCGCTGTGCCTGCTCCGAAGGTTTCACTGGTGATGGCTTTA
1057521737	379858	NM_001429.3(EP300):c.4763T>C (p.Met1588Thr)	EP300	Mar 09, 2017	MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284;MedGen:CN517202	Rubinstein-Taybi syndrome 2;not provided	de novo;germline	22	41173768	ACGACCTCTCACAGAAACTATATGCCACCATGGAGAAGCATAAAGAGGTAAGATGCAGCCA
28934905	26849	NM_004992.3(MECP2):c.464T>C (p.Phe155Ser)	MECP2	Apr 10, 2002	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	germline;unknown	X	154031364	TAGGCGACACATCCCTGGACCCTAATGATTTTGACTTCACGGTAACTGGGAGAGGGAGCCC
863224113	211857	NM_024407.4(NDUFS7):c.2T>C (p.Met1Thr)	NDUFS7	Sep 30, 2013	MedGen:CN517202	not provided	germline	19	1383928	TCAGAGGTTGTCTGAAGGCCGAGGCCAAGATGGCGGTGCTGTCAGGTGAGCGCGGCACCGG
864309733	216051	NM_000255.3(MUT):c.521T>C (p.Phe174Ser)	MUT	Jan 07, 2016	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49457923	TTGACACTGTGGAAGATACCAAAATTCTTTTTGATGGAATTCCTTTAGAAAAAATGTCAGT
267607014	22142	NM_002942.4(ROBO2):c.2834T>C (p.Ile945Thr)	ROBO2	Apr 01, 2007	MedGen:C1970483,OMIM:610878	Vesicoureteral reflux 2	germline	3	77596730	TAAATAATAGCAACAGTGGCCCAAATGAGATTGGAAATTTTGGCCGTGGAGGTAAGTTGTG
72555390	15965	NM_000404.3(GLB1):c.152T>C (p.Ile51Thr)	GLB1	Mar 01, 1992	MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257	Gangliosidosis GM1 type 3	germline	3	33072637	TCCTCAAGGATGGCCAGCCATTTCGCTACATCTCAGGAAGCATTCACTACTCCCGTGTGCC
199476100	23245	NM_001009944.2(PKD1):c.2534T>C (p.Leu845Ser)	PKD1	Jul 01, 1999	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	Polycystic kidney disease, adult type	germline	16	2114489	GCCTCTACGTGCCCACCAACGGCTCAGCCTTGGTGCTCCAGGTGGACTCTGGTGCCAACGC
111033839	36533	NM_000155.3(GALT):c.509T>C (p.Ile170Thr)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648116	TAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTG
122454131	26705	NM_004586.2(RPS6KA3):c.803T>C (p.Phe268Ser)	RPS6KA3	Dec 01, 2003	MedGen:C0265252,OMIM:303600,SNOMED CT:15182000	Coffin-Lowry syndrome	germline	X	20186338	AGTTTGAAATGCTTACTGGTACACTCCCTTTCCAAGGAAAAGATCGAAAAGAAACAATGAC
111033577	19661	NM_021830.4(TWNK):c.1142T>C (p.Leu381Pro)	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	100989352	GGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCG
797045624	208635	NM_000208.3(INSR):c.1610+2T>C	INSR	Jan 07, 2015	MedGen:C1864952,OMIM:609968,Orphanet:ORPHA263458	Hyperinsulinemic hypoglycemia familial 5	germline	19	7167966	TTGGGGTTCATGCTGTTCTACAAAGAGGCGTAAGTAGAAGAGTTAGAGAGACGCTGAGGAG
113994151	38422	NM_207346.2(TSEN54):c.277T>C (p.Ser93Pro)	TSEN54	Jan 01, 2018	MedGen:C1848526,OMIM:277470;MedGen:C1856974,OMIM:225753,Orphanet:ORPHA166063;MedGen:C1856974,OMIM:225753,Orphanet:ORPHA166063	Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 4;Pontocerebellar hypoplasia type 4	germline;maternal	17	75517064	AGGCCAGAAGAGGGCTTCGTGGAGTTGAAGTCTCCCGCGGTGAGCGGCGGGCTCGGGGACC
202115331	75289	NM_022114.3(PRDM16):c.2660T>C (p.Leu887Pro)	PRDM16	Jul 11, 2013	MedGen:CN178850	Dilated cardiomyopathy 1LL	germline	1	3414616	ACCCCGTGGGAGCCCTGAAGGAGAAGTACCTGCGGCCGTCCCCGCTGCTCTTCCACCCCCA
72554359	103072	NM_000531.5(OTC):c.386+2T>C	OTC	-	MedGen:CN517202	not provided	unknown	X	38381431	GTGAATGAAAGTCTCACGGACACGGCCCGGTTTGTAAATATTTTCTTCTCTCCAAAGCTGA
121909499	24484	NM_002427.3(MMP13):c.272T>C (p.Met91Thr)	MMP13	Aug 01, 2009	MedGen:C4016643	Metaphyseal anadysplasia 1, autosomal dominant	germline	11	102955342	GCAAACTTGACGATAACACCTTAGATGTCATGAAAAAGCCAAGATGCGGGGTTCCTGATGT
57955682	31868	NM_001927.3(DES):c.1154T>C (p.Leu385Pro)	DES	Oct 10, 2000	MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909;MedGen:CN517202	Myofibrillar myopathy 1;not provided	germline	2	219421470	GGCACCTCAAGGATGAGATGGCCCGCCATCTGCGCGAGTACCAGGACCTGCTCAACGTGAA
760222236	303588	NM_138694.3(PKHD1):c.8870T>C (p.Ile2957Thr)	PKHD1	Aug 08, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003;MedGen:CN517202	Autosomal recessive polycystic kidney disease;not provided	germline	6	51753281	CTGCTGAGGTTGGACTGTTGACCCGAAATATACAAATTCAGCCTGACGTATCATGTAGGGG
121434575	31612	NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro)	ERCC5	Feb 01, 2002	MedGen:C0268141,OMIM:278780,SNOMED CT:36454001	Xeroderma pigmentosum, group G	germline	13	102868152	GGAATAAGTTAATAAATTTGGCTTATTTGCTTGGAAGTGATTATACCGAAGGAATACCAAC
137852622	24475	NM_000023.3(SGCA):c.524T>C (p.Val175Ala)	SGCA	Aug 26, 1994	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle muscular dystrophy, type 2D	germline	17	50168512	GGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGT
121918699	27579	NM_001128177.1(THRB):c.929T>C (p.Met310Thr)	THRB	May 01, 1994	na	Thyroid hormone resistance, generalized	germline	3	24127714	ACCAGATCATCCTCCTCAAAGGCTGCTGCATGGAGATCATGTCCCTTCGCGCTGCTGTGCG
786205857	189174	NM_015662.2(IFT172):c.770T>C (p.Leu257Pro)	IFT172	Jan 01, 2015	MedGen:C4225342,OMIM:616394	Retinitis pigmentosa 71	germline	2	27481061	TATCAAGTCCTGGGGGCCAGTCTGTTGTGCTAGGAAGTTATGACAGGTAAGTCCCCTTTCC
587777040	76380	NM_001135021.1(ELMOD3):c.794T>C (p.Leu265Ser)	ELMOD3	Jan 01, 2013	MedGen:C2829267,OMIM:615429	Deafness, autosomal recessive 88	germline	2	85389806	TGAACATCACCCACATTGCCATCCAGGCCTTGAGAGAGGAGTGTCTCTCCAGGTGAGTCCC
118204430	15514	NM_000035.3(ALDOB):c.442T>C (p.Trp148Arg)	ALDOB	Apr 01, 1995	Human Phenotype Ontology:HP:0005973,MedGen:C0016751,OMIM:229600,Orphanet:ORPHA469,SNOMED CT:20052008	Hereditary fructosuria	germline	9	101427580	TACAAGAAAGATGGTGTTGACTTTGGGAAGTGGCGTGCTGTGCTGAGGATTGCCGACCAGT
121913547	29413	NM_000239.2(LYZ):c.221T>C (p.Ile74Thr)	LYZ	Apr 08, 1993	MedGen:C0268389,OMIM:105200,Orphanet:ORPHA85450,SNOMED CT:66451004	Familial visceral amyloidosis, Ostertag type	germline	12	69350192	ATGCTGGAGACAGAAGCACTGATTATGGGATATTTCAGATCAATAGCCGCTACTGGTGTAA
747453876	407800	NM_003990.4(PAX2):c.685+2T>C	PAX2	Sep 09, 2015	MedGen:CN517202	not provided	germline	10	100787013	AGGTTTGCATCTGGTCTGGACTTTAAGAGGTATGAGGGCCAGAGGGAACATGGCGTGGGGG
878853140	237497	NM_022068.3(PIEZO2):c.2993T>C (p.Met998Thr)	PIEZO2	Jun 04, 2014	MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154	Oculomelic amyoplasia	de novo	18	10762977	TCTGGACGTGTGTGATCATCGTCTGCAAAATGTTGTACCAGCTCCAAACCATTAAGCCTGA
587777661	153790	NM_001288767.1(ARMC5):c.1928T>C (p.Leu643Pro)	ARMC5	Nov 28, 2013	MedGen:C4014803,OMIM:615954	Acth-independent macronodular adrenal hyperplasia 2	unknown	16	31464666	CAAGTGGGGCACTTGTGACCGGCCCGGCGCTGTACGGCCTGCTGACCTATGTGACCGGCGC
121918191	15910	NM_001127628.1(FBP1):c.581T>C (p.Phe194Ser)	FBP1	Jul 01, 2002	MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005	Fructose-biphosphatase deficiency	germline	9	94606939	CTTCCTTGTCTAAAAAGGCCATCGGGGAGTTCATTTTGGTGGACAAGGATGTGAAGATAAA
28941771	18978	NM_000520.5(HEXA):c.538T>C (p.Tyr180His)	HEXA	Aug 01, 1996	na	Gm2-gangliosidosis, late onset	germline	15	72353100	CGGGGCTTGCTGTTGGATACATCTCGCCATTACCTGCCACTCTCTAGCATCCTGGACACTC
267607751	95698	NM_000249.3(MLH1):c.453+2T>C	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37007065	GTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTG
104895304	26971	NM_000431.3(MVK):c.803T>C (p.Ile268Thr)	MVK	Nov 15, 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:C1959626,OMIM:610377,Orphanet:ORPHA29;MedGen:CN517202;MedGen:CN169374	Hyperimmunoglobulin D with periodic fever;Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria;Mevalonic aciduria;not provided;not specified	germline;maternal	12	109591275	CAGAGATCGTGGCCCCCCTCCTGACCTCAATAGATGCCATCTCCCTGGAGTGTGAGCGCGT
104893973	32983	NM_000416.2(IFNGR1):c.260T>C (p.Ile87Thr)	IFNGR1	Dec 01, 1997	MedGen:C0694566,OMIM:209950,SNOMED CT:240413000;MedGen:C1834752,OMIM:607948	Disseminated atypical mycobacterial infection;Mycobacterium tuberculosis, susceptibility to	germline	6	137206249	GCATCAATATTTCTCATCATTATTGTAATATTTCTGATCATGTTGGTGATCCATCAAATTC
121908233	23537	NM_001127221.1(CACNA1A):c.4469T>C (p.Phe1490Ser)	CACNA1A	Mar 01, 2001	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006	Episodic ataxia type 2	germline	19	13257474	GCCCCGGGTACCGCATGGAGATGTCCATTTTCTACGTCGTCTACTTTGTGGTGTTCCCCTT
-1	437684	NM_000295.4(SERPINA1):c.227T>C (p.Phe76Ser)	SERPINA1	Dec 08, 2014	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007	Alpha-1-antitrypsin deficiency	germline	14	94383011	CACACCAGTCCAACAGCACCAATATCTTCTTCTCCCCAGTGAGCATCGCTACAGCCTTTGC
886041668	264301	NM_003165.3(STXBP1):c.124T>C (p.Ser42Pro)	STXBP1	Apr 12, 2016	MedGen:CN517202	not provided	germline	9	127653751	GTGGTGGATCAGTTAAGCATGAGGATGCTGTCCTCCTGCTGCAAGATGACAGACATCATGA
886041875	264447	NM_001197104.1(KMT2A):c.3565T>C (p.Cys1189Arg)	KMT2A	Jul 13, 2016	MedGen:CN517202	not provided	germline	11	118478197	TTTGGTGGTCGCAATATAAAGAAGCAGTGCTGCAAGTAAGTGGGTGTTTCACTCTGAGATG
1057515579	262522	NM_001733.4(C1R):c.899T>C (p.Leu300Pro)	C1R	Oct 31, 2016	Gene:791254,MedGen:C0268347,OMIM:130080,Orphanet:ORPHA75392,SNOMED CT:50869007	Ehlers-Danlos syndrome, type 8	germline	12	7088856	ATGAGTCGGGGGACAGCCGGGGCTGGAAGCTGCGCTACACCACCGAGAGTAAGGCTCCCTG
879254842	246059	NM_000527.4(LDLR):c.1235T>C (p.Met412Thr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11113326	TCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCT
121917989	187833	NM_001165963.1(SCN1A):c.1265T>C (p.Val422Ala)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166046882	TCTACCTAATAAATTTGATCCTGGCTGTGGTGGCCATGGCCTACGAGGAACAGAATCAGGC
752623413	211774	NM_003119.3(SPG7):c.2228T>C (p.Ile743Thr)	SPG7	May 17, 2017	MedGen:C1846564,OMIM:607259,Orphanet:ORPHA99013;MedGen:CN517202	Spastic paraplegia 7;not provided	germline;unknown	16	89556933	TGGAAAAGGAAGTGATAAACTATGAGGACATTGAGGCTCTCATTGGCCCGCCGCCCCATGG
764958537	273766	NM_000392.4(ABCC2):c.2125T>C (p.Trp709Arg)	ABCC2	Jul 14, 2016	MedGen:C0022350,OMIM:237500,Orphanet:ORPHA234,SNOMED CT:44553005	Dubin-Johnson syndrome	germline	10	99817338	GGCACCACTGCCTATGTCCCACAGCAGTCCTGGATTCAGAATGGCACCATAAAGGACAACA
121918563	28204	NM_000322.4(PRPH2):c.554T>C (p.Leu185Pro)	PRPH2	Apr 17, 2017	MedGen:CN224078;MedGen:C1868569,OMIM:169150,Orphanet:ORPHA63454;MedGen:C2675552;MedGen:CN517202	Leber congenital amaurosis 18;Patterned dystrophy of retinal pigment epithelium;Retinitis pigmentosa 7, digenic;not provided	germline	6	42721781	TTGAGATTCAGTGGATCAGCAATCGCTACCTGGACTTTTCCTCCAAAGAAGTCAAAGAGTG
121964893	27260	NM_000490.4(AVP):c.61T>C (p.Tyr21His)	AVP	Sep 01, 2004	Human Phenotype Ontology:HP:0000863,MedGen:C0687720,OMIM:125700,Orphanet:ORPHA178029,SNOMED CT:45369008	Neurohypophyseal diabetes insipidus	germline	20	3084614	CTCGGCCTACTGGCCTTCTCCTCCGCGTGCTACTTCCAGAACTGCCCGAGGGGCGGCAAGA
193302933	24746	m.10663T>C	MT-ND4L	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	10663	TAGCCAATATTGTGCCTATTGCCATACTAGTCTTTGCCGCCTGCGAAGCAGCGGTGGGCCT
786201044	183028	NM_000314.6(PTEN):c.406T>C (p.Cys136Arg)	PTEN	Sep 28, 2017	MeSH:D007947,MedGen:C0023462,Orphanet:ORPHA518;MedGen:C0018553,Orphanet:ORPHA201,SNOMED CT:58037000;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1334655;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	Acute megakaryoblastic leukemia;Cowden syndrome;Hereditary cancer-predisposing syndrome;Mediastinal germ cell tumor;PTEN hamartoma tumor syndrome;not provided	germline;somatic	10	87933165	GCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAAATTTT
121909569	33078	NM_000488.3(SERPINC1):c.442T>C (p.Ser148Pro)	SERPINC1	Mar 01, 1993	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173911981	TTTAAGTTTGACACCATATCTGAGAAAACATCTGATCAGATCCACTTCTTCTTTGCCAAAC
587783539	169936	NM_178151.2(DCX):c.2T>C (p.Met1Thr)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410397	CGCTCAGGTCTCTGAGGTTCCACCAAAATATGGAACTTGATTTTGGACACTTTGACGAAAG
-1	445236	NM_015915.4(ATL1):c.1204T>C (p.Phe402Leu)	ATL1	Oct 23, 2017	MedGen:CN517202	not provided	germline	14	50628115	CTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAG
1114167432	417542	NM_001887.3(CRYBB1):c.757T>C (p.Ter253Arg)	CRYBB1	Jun 05, 2017	MedGen:C1969062,OMIM:611544	Cataract, congenital nuclear, autosomal recessive 3	germline	22	26599492	TTCCCTGTCCTGGCCACAGAGCCCCCCAAGTGAGTCCACACCTCACTCTGCTACCTTGCCC
587776735	25703	NM_000133.3(F9):c.277+2T>C	F9	Aug 15, 2000	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	unknown	X	139537388	ATAGACTGAATTTTGGAAGCAGTATGTTGGTAAGCAATTCATTTTATCCTCTAGCTAATAT
606231152	19945	NM_022458.3(LMBR1):c.423+4808T>C	LMBR1	Aug 15, 2008	MedGen:C1868114,OMIM:174500,Orphanet:ORPHA93336;MedGen:C0241397,SNOMED CT:205308004	Polydactyly, preaxial II;Triphalangeal thumb	germline	7	156791581	TCTATAAAGCTGAGCAACATGACAGCACAATAGAGGAGGAACAAAGATTTTTTTAATATGT
121918631	27935	NM_006920.4(SCN1A):c.434T>C (p.Met145Thr)	SCN1A	Jun 08, 2016	MedGen:C1858673,OMIM:604403;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 2;not provided	germline	2	166056450	TGTGCACTATTTTGACAAACTGTGTGTTTATGACAATGAGTAACCCTCCTGATTGGACAAA
-1	442847	NM_006516.2(SLC2A1):c.970T>C (p.Ser324Pro)	SLC2A1	Jul 17, 2017	MedGen:CN517202	not provided	germline	1	42929212	GGTATCGTCAACACGGCCTTCACTGTCGTGTCGGTGAGTCTTTGCTTACTGGCCCCCCCAG
121912794	32591	NM_001822.5(CHN1):c.427T>C (p.Tyr143His)	CHN1	Aug 08, 2008	MedGen:C0751083,OMIM:604356	Duane syndrome type 2	germline	2	174877962	TACATTGCCAAGATGACGATAAACCCAATTTATGAGCACGTAGGATACACAACCTTAAACA
727503054	175979	NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1	Jul 19, 2017	MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED CT:254090007;Human Phenotype Ontology:HP:0004942,MedGen:C2072946;Human Phenotype Ontology:HP:0002631,MedGen:C0856747;MedGen:C1851286,OMIM:129600;MedGen:C3280054,OMIM:614185;Human Phenotype Ontology:HP:0001382,MedGen:C1844820;MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715;MedGen:CN229799;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;Human Phenotype Ontology:HP:0002650,MedGen:C0037932;Human Phenotype Ontology:HP:0011003,MedGen:C0271183;MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833;Human Phenotype Ontology:HP:0000098,MedGen:C0241240;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:C1869115,OMIM:608328,Orphanet:ORPHA2084;MedGen:CN517202;MedGen:CN169374	Acromicric dysplasia;Aortic aneurysm;Ascending aortic aneurysm;Ectopia lentis, isolated, autosomal dominant;Geleophysic dysplasia 2;Joint hypermobility;MASS syndrome;Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan lipodystrophy syndrome;Marfan syndrome;Marfan syndrome;Marfan syndrome;Scoliosis;Severe Myopia;Stiff skin syndrome;Tall stature;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;Weill-Marchesani syndrome 2;not provided;not specified	germline;unknown	15	48420752	ACCGCTGCCAGCATGGCTGCCAGAACATCATTGGGGGCTACAGGTGCAGCTGCCCCCAGGG
16991654	21095	NM_172201.1(KCNE2):c.178T>C (p.Phe60Leu)	KCNE2	Sep 01, 2006	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN513938	Congenital long QT syndrome;Long qt syndrome 3/6, digenic	germline	21	34370656	ATCCTGTACCTCATGGTGATGATTGGAATGTTCTCTTTCATCATCGTGGCCATCCTGGTGA
1057517951	360691	NM_203475.2(PORCN):c.1250T>C (p.Phe417Ser)	PORCN	Oct 20, 2016	MedGen:CN517202	not provided	germline	X	48517259	TCTTCCACCTGGCCTACCTGGGCTCCCTGTTTGATGTCGATGTGGATGACACCACAGAGGA
67468335	103248	NM_000531.5(OTC):c.907T>C (p.Cys303Arg)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411901	GTTGCTGCCTCTGACTGGACATTTTTACACTGCTTGCCCAGAAAGCCAGAAGAAGTGGATG
1060499533	224777	NM_001257988.1(TYMP):c.1112T>C (p.Leu371Pro)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526293	GCTCGGGAAGTCCCGCAGAACGCCGGCAGCTGCTGCCTCGCGCCCGGGAGCAGGAGGAGCT
796065347	200766	NM_019074.3(DLL4):c.1168T>C (p.Cys390Arg)	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	40935045	CGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCG
1057516108	353995	NM_172107.3(KCNQ2):c.1054T>C (p.Ser352Pro)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63433873	TCGGCCTGGAGATTCTACGCCACCAACCTCTCGCGCACAGACCTGCACTCCACGTGGCAGT
397515766	51471	NM_000138.4(FBN1):c.2341T>C (p.Cys781Arg)	FBN1	Mar 05, 2009	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48496178	CTGAACAGTCTCCTTTGTGACAATGGACAATGTAGAAATACTCCTGGAAGTTTTGTCTGTA
398123595	99555	NM_006920.4(SCN1A):c.4251+2T>C	SCN1A	Jun 19, 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	166002470	GATTTGGGTATCTCTCTTTGCTTCAAGTTGTAAGTGAACACTATTTTCTCTGAATATTTTT
199476136	24684	m.8851T>C	MT-ATP6	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1839022,OMIM:500003	Leigh syndrome;Striatonigral degeneration, infantile, mitochondrial	germline	MT	8851	TCTATAAACCTAGCCATGGCCATCCCCTTATGAGCGGGCACAGTGATTATAGGCTTTCGCT
387907182	40322	NM_001004127.2(ALG11):c.1142T>C (p.Leu381Ser)	ALG11	Mar 01, 2012	MedGen:C3150913,OMIM:613661,Orphanet:ORPHA280071	Congenital disorder of glycosylation type 1P	germline	13	52024872	AATTTAAAATAAACATTCCATTTGATGAATTAAAGAATTATTTGTCTGAAGCAACAATTGG
-1	434193	NM_000527.4(LDLR):c.115T>C (p.Cys39Arg)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100270	AGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCA
771487311	353902	NM_001080463.1(DYNC2H1):c.10343T>C (p.Leu3448Pro)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:C0024507,OMIM:263520,SNOMED CT:72922008;MedGen:CN674505;MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Jeune thoracic dystrophy;Short rib-polydactyly syndrome, Majewski type;Short-rib polydactyly syndrome type III;Short-rib thoracic dysplasia 3 with or without polydactyly	maternal;paternal	11	103255530	TACAGCTAGCCAAGCTCGAAGAATCTCTTCTAGAGGTAAAAGTCTAGCTATTTAGGTTACT
587777578	150468	NM_177550.4(SLC13A5):c.1463T>C (p.Leu488Pro)	SLC13A5	Jul 03, 2014	MedGen:C4014621,OMIM:615905	Epileptic encephalopathy, early infantile, 25	germline	17	6687641	CGCAGTCTCGCTCCATCGGCCTCAATCCGCTGTACATCATGCTGCCCTGTACCCTGAGTGC
587784573	171002	NM_004963.3(GUCY2C):c.2782T>C (p.Cys928Arg)	GUCY2C	Aug 13, 2014	MedGen:C0270246,OMIM:614665	Meconium ileus	germline	12	14619304	TCCTGCTTTCTGTCCTTCATTTCAGGTCCCTGTGCTGCTGGAGTTGTGGGAATCAAGATGC
121918010	28712	NM_000478.5(ALPL):c.979T>C (p.Phe327Leu)	ALPL	Mar 30, 2017	MedGen:C0268413,OMIM:146300,Orphanet:ORPHA247676,SNOMED CT:20756002;MedGen:C0020630,Orphanet:ORPHA436;Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Adult hypophosphatasia;Hypophosphatasia;Infantile hypophosphatasia	germline;unknown	1	21573781	ATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCG
397515632	86130	NM_002608.3(PDGFB):c.356T>C (p.Leu119Pro)	PDGFB	Sep 01, 2013	MedGen:C3809645,OMIM:615483	Idiopathic basal ganglia calcification 5	germline	22	39231722	GCCTCATAGACCGCACCAACGCCAACTTCCTGGTGTGGCCGCCCTGTGTGGAGGTGCAGCG
387906396	23456	NM_000392.4(ABCC2):c.1967+2T>C	ABCC2	Dec 18, 1998	MedGen:C0022350,OMIM:237500,Orphanet:ORPHA234,SNOMED CT:44553005	Dubin-Johnson syndrome	germline	10	99811604	GAACATGATTCGGAAGCCACAGTCCGAGAGTGAGTTGCCTTCTTTCCATCCTAATGTTCTT
587779351	132703	NM_003401.4(XRCC4):c.127T>C (p.Trp43Arg)	XRCC4	Dec 13, 2016	MedGen:C0342573,OMIM:262400,Orphanet:ORPHA231662,SNOMED CT:71003000;MedGen:C4225288,OMIM:616541;MedGen:CN517202	Ateleiotic dwarfism;Short stature, microcephaly, and endocrine dysfunction;not provided	germline	5	83105046	GTTATTACACTTACTGATGGTCATTCAGCATGGACTGGGACAGGTAATACTAAAAACAAAG
121918037	28570	NM_000174.4(GP9):c.212T>C (p.Phe71Ser)	GP9	May 01, 1997	MedGen:C1856448	Bernard-Soulier syndrome type C	germline	3	129061951	ACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGA
398123096	98209	NM_000019.3(ACAT1):c.730+2T>C	ACAT1	Dec 26, 2012	MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007	Deficiency of acetyl-CoA acetyltransferase	germline	11	108140217	AGTTATTCCTGTCACAGTTACAGTAAAAGGTAGAGATAATGTTCCAAAAAGGATGAATAGA
121964847	27509	NM_001159287.1(TPI1):c.832T>C (p.Phe278Leu)	TPI1	Nov 15, 2001	MedGen:C1860808,OMIM:615512,Orphanet:ORPHA868	Triosephosphate isomerase deficiency	germline	12	6870354	CTTGTGGGTGGTGCTTCCCTCAAGCCCGAATTCGTGGACATCATCAATGCCAAACAATGAG
587777480	143174	NM_003108.3(SOX11):c.178T>C (p.Ser60Pro)	SOX11	Jun 02, 2014	MedGen:C4014528,OMIM:615866	Mental retardation, autosomal dominant 27	germline	2	5692899	AAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGC
143607153	39288	NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro)	KCNJ13	Jul 15, 2011	MedGen:C3280062,OMIM:614186	Leber congenital amaurosis 16	germline	2	232768552	CTGACGAATGTCCATTCTTCATCTTTCCACTAACGTACTATCACTCCATTACACCATCAAG
104894956	24777	NM_003140.2(SRY):c.326T>C (p.Phe109Ser)	SRY	Dec 01, 1992	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787278	AAATGCTTACTGAAGCCGAAAAATGGCCATTCTTCCAGGAGGCACAGAAATTACAGGCCAT
121909189	23017	NM_000474.3(TWIST1):c.392T>C (p.Leu131Pro)	TWIST1	Oct 26, 2017	MedGen:C0175699,OMIM:101400,SNOMED CT:83015004	Saethre-Chotzen syndrome	germline	7	19116930	CCCAGTCGCTGAACGAGGCGTTCGCCGCGCTGCGGAAGATCATCCCCACGCTGCCCTCGGA
587777188	106817	NM_001165899.1(PDE4D):c.1850T>C (p.Ile617Thr)	PDE4D	Jan 01, 2014	MedGen:C3553250,OMIM:614613	Acrodysostosis 2, with or without hormone resistance	germline	5	58975061	TTCTTAACTAGGTGGGCTTCATAGACTATATTGTTCATCCCCTCTGGGAGACATGGGCAGA
121908884	21497	NM_000369.2(TSHR):c.1798T>C (p.Cys600Arg)	TSHR	Jun 01, 2002	MedGen:C3493776,OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1	germline	14	81143856	AACATAGTTGCCTTCGTCATCGTCTGCTGCTGTTATGTGAAGATCTACATCACAGTCCGAA
119455953	17680	NM_000391.3(TPP1):c.1093T>C (p.Cys365Arg)	TPP1	Sep 19, 1997	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349	Ceroid lipofuscinosis neuronal 2	germline	11	6616057	TGGTCTCTCTCAGGTGACAGTGGGGCCGGGTGTTGGTCTGTCTCTGGAAGACACCAGTTCC
786204851	187260	NM_007374.2(SIX6):c.110T>C (p.Leu37Pro)	SIX6	Apr 10, 2015	MedGen:C1859311,OMIM:212550	Cataract, microphthalmia and nystagmus	germline	14	60509508	TGGAGCGCCTGGGTCGCTTCCTCTGGTCGCTGCCCGTGGCCCCTGCGGCCTGCGAGGCCCT
35849199	30246	NM_000518.4(HBB):c.337T>C (p.Cys113Arg)	HBB	Feb 27, 2017	na;Human Phenotype Ontology:HP:0005511,MedGen:C0700299,OMIM:140700,Orphanet:ORPHA178330	HEMOGLOBIN INDIANAPOLIS;Heinz body anemia	germline	11	5225705	CTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAAT
118204024	16608	NM_000263.3(NAGLU):c.142T>C (p.Phe48Leu)	NAGLU	Nov 15, 2000	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008	Mucopolysaccharidosis, MPS-III-B	germline	17	42536414	CGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTG
-1	438526	NM_016058.3(TPRKB):c.407T>C (p.Leu136Pro)	TPRKB	Oct 27, 2017	MedGen:CN570507,OMIM:617731	GALLOWAY-MOWAT SYNDROME 5	germline	2	73730594	TAGAAGGTCATCAGGTTTCTCTGAAAAATCTTCCTGAAATAATGAATATTACAGAAGTCAA
104894540	17247	NM_024006.5(VKORC1):c.134T>C (p.Val45Ala)	VKORC1	Feb 05, 2004	MedGen:CN078029,OMIM:122700	Warfarin response	germline	16	31094596	GGGACCGGGATTACCGCGCGCTCTGCGACGTGGGCACCGCCATCAGCTGTTCGCGCGTCTT
104893951	23493	NM_001453.2(FOXC1):c.335T>C (p.Phe112Ser)	FOXC1	Jan 27, 2017	MedGen:C2678503,OMIM:602482	Axenfeld-Rieger syndrome type 3	not provided	6	1610780	ACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTG
786205903	190098	NM_004736.3(XPR1):c.419T>C (p.Leu140Pro)	XPR1	Jun 01, 2015	MedGen:C4225335,OMIM:616413	Basal ganglia calcification, idiopathic, 6	germline	1	180803583	ACCTTAAACTGGCCTTCAGTGAGTTCTACCTCAGTCTAATCCTGCTGCAGAACTATCAGGT
121434360	16891	NM_152783.4(D2HGDH):c.1331T>C (p.Val444Ala)	D2HGDH	Feb 01, 2005	MedGen:C3152055,OMIM:600721	D-2-hydroxyglutaric aciduria 1	germline	2	241767734	CTCCAGGAGATGGTAACCTGCACCTCAATGTGACGGCGGAGGCCTTCAGCCCCTCGCTCCT
397514713	71464	NM_001199107.1(TBC1D24):c.686T>C (p.Phe229Ser)	TBC1D24	Dec 22, 2014	MedGen:C3809173,OMIM:615338,Orphanet:ORPHA352596	Early infantile epileptic encephalopathy 16	germline	16	2496834	AGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGT
137852511	25067	NM_000206.2(IL2RG):c.452T>C (p.Leu151Pro)	IL2RG	Nov 15, 2008	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006	X-linked severe combined immunodeficiency	germline	X	71110506	AGGCCACACAGATGCTAAAACTGCAGAATCTGGGTAATTTGGAAAGAAAGGGTCAAGAGAC
200639521	405981	NM_000233.3(LHCGR):c.383+2T>C	LHCGR	Aug 06, 2015	MedGen:CN517202	not provided	germline	2	48725674	TTTATAAATCTTCCCCGATTAAAATACTTGTGAGAAATTTTCCTTTTTAAGCAATTGGGGA
-1	432040	NM_003000.2(SDHB):c.274T>C (p.Ser92Pro)	SDHB	-	MedGen:C1708353,Orphanet:ORPHA29072	Hereditary Paraganglioma-Pheochromocytoma Syndromes	germline	1	17033072	GAAGTTGACTCTACTTTGACCTTCCGAAGATCATGCAGAGAAGGTGAGCATTTCATTCCTG
863225463	214837	NM_000342.3(SLC4A1):c.2060T>C (p.Leu687Pro)	SLC4A1	Nov 01, 2005	MedGen:C1861453,OMIM:185020,Orphanet:ORPHA398088	Pseudohyperkalemia Cardiff	germline	17	44253369	GCTTACCCCTCACCTTCCCCTACCGTAGGCTGATTGTCAGCAAACCTGAGCGCAAGATGGT
121434621	25544	NM_020061.5(OPN1LW):c.607T>C (p.Cys203Arg)	OPN1LW	Jul 02, 2015	Human Phenotype Ontology:HP:0007939,MedGen:C0339537,OMIM:303700,Orphanet:ORPHA16,SNOMED CT:24704003;MedGen:CN517202	Cone monochromatism;not provided	germline	X	154154602	AGGTACTGGCCCCACGGCCTGAAGACTTCATGCGGCCCAGACGTGTTCAGCGGCAGCTCGT
121918740	79516	NM_006920.4(SCN1A):c.3827T>C (p.Leu1276Pro)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo;germline	2	166012128	AAACATATTTCACCAATGCCTGGTGTTGGCTGGACTTCTTAATTGTTGATGTAGGTATCGT
121908594	28389	NM_002755.3(MAP2K1):c.158T>C (p.Phe53Ser)	MAP2K1	May 09, 2017	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MedGen:C3809006,OMIM:615279;MedGen:CN517202	Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 3;not provided	germline	15	66435104	ATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACT
-1	441105	NM_000162.4(GCK):c.769T>C (p.Trp257Arg)	GCK	Jul 03, 2017	MedGen:CN517202	not provided	germline	7	44147744	GACGAGGGCCGCATGTGCGTCAATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGG
863225168	214191	NM_001080522.2(CC2D2A):c.4289T>C (p.Val1430Ala)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	unknown	4	15589654	AATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAG
121912967	32114	NM_005215.3(DCC):c.503T>C (p.Met168Thr)	DCC	Jun 01, 1994	MedGen:C4015970	Esophageal carcinoma, somatic	somatic	18	52906134	TACTCAAGTGTGAAGTCATTGGGGAGCCCATGCCAACAATCCACTGGCAGAAGAACCAACA
63751444	96609	NM_000251.2(MSH2):c.560T>C (p.Leu187Pro)	MSH2	Sep 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47410287	AATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAA
398122911	48329	NM_000431.3(MVK):c.1094T>C (p.Phe365Ser)	MVK	Jul 01, 2014	MedGen:C1867981,OMIM:175900	Porokeratosis, disseminated superficial actinic 1	germline	12	109596480	CCACGAAGCAGGCCCTGACCAGCTGTGGCTTTGACTGCTTGGAAACCAGCATCGGTGCCCC
387906657	38755	NM_002465.3(MYBPC1):c.706T>C (p.Trp236Arg)	MYBPC1	Apr 01, 2010	MedGen:C3280526,OMIM:614335	Distal arthrogryposis type 1B	germline	12	101642459	CAGCAGGAGGAAGAACCCCAGGTGGACGTATGGGAGTTGCTGAAGAACGCGAAACCCAGTG
121917930	27926	NM_006920.4(SCN1A):c.3577T>C (p.Trp1193Arg)	SCN1A	Apr 01, 2001	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;unknown	2	166013839	ATCAATGTGGAAGAAGGCAGAGGAAAACAATGGTGGAACCTGAGAAGGACGTGTTTCCGAA
104894651	17953	NM_173477.4(USH1G):c.143T>C (p.Leu48Pro)	USH1G	Mar 01, 2003	MedGen:C1847089,OMIM:606943	Usher syndrome, type 1G	germline	17	74922931	GGGCTGCCTACCATGGCAACCTCGAGTCGCTGCGTCTCATTGTGAGCCGCGGGTGAGTACG
121908025	434202	NM_000527.4(LDLR):c.259T>C (p.Trp87Arg)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102732	GGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACA
606231138	18680	NM_020247.4(COQ8A):c.1398+2T>C	COQ8A	Jun 07, 2016	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485	Coenzyme Q10 deficiency, primary, 4	germline	1	226984237	AAGGGCTCAGCCAGGAGATTCGGAACGAGGTTTGTCTGTGCCAGCAGACAGGTGGGGCCAG
137852413	25255	NM_000132.3(F8):c.1481T>C (p.Ile494Thr)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154961131	TTAAGAATCAAGCAAGCAGACCATATAACATCTACCCTCACGGAATCACTGATGTCCGTCC
886041337	264378	NM_003165.3(STXBP1):c.1060T>C (p.Cys354Arg)	STXBP1	Jun 20, 2016	MedGen:CN517202	not provided	germline	9	127673211	TACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACA
-1	434190	NM_000527.4(LDLR):c.79T>C (p.Cys27Arg)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100234	TCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACG
180177160	200600	NM_000030.2(AGXT):c.1076T>C (p.Leu359Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240878718	ACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCAC
142433332	16101	NM_018122.4(DARS2):c.492+2T>C	DARS2	Aug 16, 2017	Human Phenotype Ontology:HP:0001310,MedGen:C0234162;Human Phenotype Ontology:HP:0002066,MedGen:C0751837;Human Phenotype Ontology:HP:0002141,MedGen:C1836150;MedGen:C1970180,OMIM:611105,Orphanet:ORPHA137898;MedGen:CN230084;MedGen:CN517202	Dysmetria;Gait ataxia;Gait imbalance;Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation;not provided	germline;unknown	1	173831632	TGCCCTTTGAAATTAAGAACTTCGTGAAGGTACCAACCTCTGTTATTAATAAAATAGAGTA
587779414	152927	NM_000257.3(MYH7):c.4442T>C (p.Leu1481Pro)	MYH7	Mar 12, 2015	MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135	Myopathy, distal, 1	germline	14	23417230	AGAAGGAGGCTCGCTCCCTCAGCACAGAGCTCTTCAAACTCAAGAACGCCTATGAGGAGTC
121917824	20117	NM_021615.4(CHST6):c.827T>C (p.Leu276Pro)	CHST6	Mar 01, 2004	MedGen:C1636149,OMIM:217800,Orphanet:ORPHA98969,SNOMED CT:418054005	Macular corneal dystrophy Type I	germline	16	75479002	GCCGCTACCGCCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCGCTGGCAGAAATCCGTGC
137853065	22535	NM_001172567.1(MYD88):c.317T>C (p.Leu106Pro)	MYD88	Aug 01, 2008	MedGen:C2677092,OMIM:612260,Orphanet:ORPHA183713	Myd88 deficiency	germline	3	38138978	GCGCCTCTGTAGGCCGACTGCTCGAGCTGCTTACCAAGCTGGGCCGCGACGACGTGCTGCT
-1	442141	NM_000435.2(NOTCH3):c.1597T>C (p.Cys533Arg)	NOTCH3	Sep 08, 2015	MedGen:CN517202	not provided	germline	19	15187890	GTGGACCAGCCCGATGGCTACGAGTGCCGCTGTGCCGAGGGTGAGGCGGGCCAATGACAGT
132630291	26128	NM_001128834.2(PLP1):c.710T>C (p.Phe237Ser)	PLP1	Jan 01, 1996	MedGen:C1839264,OMIM:312920,Orphanet:ORPHA99015	Spastic paraplegia 2	germline	X	103789346	CTTTCATTTTCCTGCAGTTCCAAATGACCTTCCACCTGTTTATTGCTGCATTTGTGGGGGC
869312154	214028	NM_000169.2(GLA):c.784T>C (p.Trp262Arg)	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	101398802	AGAATTGTTGATGTTGCTGGACCAGGGGGTTGGAATGACCCAGATATGGTAAAAACTTGAG
786204721	186940	NM_000520.5(HEXA):c.2T>C (p.Met1Thr)	HEXA	May 12, 2017	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:CN517202	Tay-Sachs disease;not provided	germline;unknown	15	72375971	CCCCCTCCGAGAGGGGAGACCAGCGGGCCATGACAAGCTCCAGGCTTTGGTTTTCGCTGCT
281860279	38765	NM_005211.3(CSF1R):c.2624T>C (p.Met875Thr)	CSF1R	Aug 30, 2012	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150055267	TCTATAAACTGGTGAAGGATGGATACCAAATGGCCCAGCCTGCATTTGCCCCAAAGAATAT
202149403	16426	NM_153704.5(TMEM67):c.755T>C (p.Met252Thr)	TMEM67	Feb 10, 2016	MedGen:C1853153,OMIM:610688;MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008;MedGen:CN517202	Joubert syndrome 6;Nephronophthisis;not provided	germline;unknown	8	93780633	ATCTAACATCTTGTCAAGCTCTTGGAAATATGTGTGTGATGAACATGAATTCTTACGACTT
63749871	16054	NM_139241.3(FGD4):c.893T>C (p.Met298Thr)	FGD4	Sep 13, 2012	MedGen:C1836336,OMIM:609311,Orphanet:ORPHA99954	Charcot-Marie-Tooth disease, type 4H	germline	12	32602217	TCCTTCAGAAATTGGCACCATTCCTTAAGATGTATGGAGAATATGTGAAAGGATTTGATAA
63749859	95584	NM_000249.3(MLH1):c.229T>C (p.Cys77Arg)	MLH1	May 19, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37000976	ATCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGT
111033273	57633	NM_206933.2(USH2A):c.1606T>C (p.Cys536Arg)	USH2A	Feb 22, 2016	MedGen:C1848634,OMIM:276901;MedGen:CN517202	Usher syndrome, type 2A;not provided	germline	1	216321921	AACTGCGACACAACAAGCCAGCCATATAGATGCCTCTGCTCCCAGGAGAGCTTCACTGAAG
61750584	15323	NM_000552.4(VWF):c.4883T>C (p.Ile1628Thr)	VWF	May 01, 2010	MedGen:CN517202;MedGen:C1282968,Orphanet:ORPHA166084	not provided;von Willebrand disease, type 2a	germline	12	6018535	GGCTGCCTGGAGACATCCAGGTGGTGCCCATTGGAGTGGGCCCTAATGCCAACGTGCAGGA
104894566	27040	NM_000151.3(G6PC):c.229T>C (p.Trp77Arg)	G6PC	Dec 29, 2014	MedGen:C2919796,OMIM:232200	Glycogen storage disease type 1A	germline;unknown	17	42901105	ATTGGAGACTGGCTCAACCTCGTCTTTAAGTGGTAAGAACCATATAGAGAGGAGATCAGCA
-1	426904	NM_001171.5(ABCC6):c.2911T>C (p.Trp971Arg)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16169730	TCCTTCTGCCGGGGCTACTGGCTGAGCCTGTGGGCGGACGACCCTGCAGTAGGTGGGCAGC
752753379	361758	NM_007198.3(PLPBP):c.524T>C (p.Leu175Pro)	PLPBP	Jan 07, 2017	MedGen:C4310632,OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	germline	8	37775408	TGGAGCACATAAACGCCAAGTGTCCTAACCTGGAGTTTGTGGGGCTGATGACCATAGGAAG
387906422	24679	m.8528T>C	MT-ATP6;MT-ATP8	May 01, 2009	MedGen:C2748884,OMIM:500006	Cardiomyopathy, infantile hypertrophic	germline	MT	8528	AAAAATTATAACAAACCCTGAGAACCAAAATGAACGAAAATCTGTTCGCTTCATTCATTGC
121918407	31120	NM_001083112.2(GPD2):c.1904T>C (p.Phe635Ser)	GPD2	Feb 24, 1997	Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006	Diabetes mellitus type 2	germline	2	156579109	GTTCCAGGTATAAGAAGAGATTTCATAAGTTTGATGCAGACCAGAAAGGCTTTATTACCAT
111033708	36522	NM_000155.3(GALT):c.499T>C (p.Trp167Arg)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647953	GTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCC
121909183	23052	NM_001089.2(ABCA3):c.4658T>C (p.Leu1553Pro)	ABCA3	Mar 25, 2004	MedGen:C1970456,OMIM:610921,Orphanet:ORPHA440402	Surfactant metabolism dysfunction, pulmonary, 3	germline	16	2278348	CTGGCATGGACCCCGTGGCCCGGCGCCTGCTTTGGGACACCGTGGCACGAGCCCGAGAGTC
28928898	29631	NM_000422.2(KRT17):c.263T>C (p.Met88Thr)	KRT17	Nov 01, 1999	MedGen:C1721007,OMIM:167210;MedGen:CN517202	Pachyonychia congenita 2;not provided	germline	17	41624247	GGCTGCTGGCTGGAGGTGAGAAGGCCACCATGCAGAACCTCAATGACCGCCTGGCCTCCTA
267606927	25552	NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg)	OPN1MW	Jul 09, 2010	MedGen:CN069543	Cone dystrophy 5, X-linked	germline	X	154190173	AAGCTGGCCATCGTGGGCATTGCCTTCTCCTGGATCTGGGCTGCTGTGTGGACAGCCCCGC
879255054	246380	NM_000527.4(LDLR):c.1856T>C (p.Phe619Ser)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120102	CTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTT
121909057	22119	NM_002700.2(POU4F3):c.668T>C (p.Leu223Pro)	POU4F3	Apr 01, 2008	MedGen:C1865366,OMIM:602459	Deafness, autosomal dominant 15	germline	5	146340095	CTAATCTCAAGATCCCCGGCGTGGGCTCGCTGAGCCAAAGCACCATCTGCAGGTTCGAGTC
121917938	79475	NM_006920.4(SCN1A):c.838T>C (p.Trp280Arg)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo;unknown	2	166051845	ATGGGCAACCTGAGGAATAAATGTATACAATGGCCTCCCACCAATGCTTCCTTGGAGGAAC
727505363	178318	NM_152743.3(BRAT1):c.176T>C (p.Leu59Pro)	BRAT1	Feb 23, 2015	MedGen:C3281029,OMIM:614498,Orphanet:ORPHA435845	Rigidity and multifocal seizure syndrome, lethal neonatal	germline	7	2547430	TGCAGGAGCACCCCTGCCTGGTGGAGCTGCTGTCCCATGTGCTGAAAGTCCAGGACCTGAG
121434453	24656	m.14709T>C	MT-TE	May 22, 2017	MedGen:C0342289,OMIM:520000,Orphanet:ORPHA225,SNOMED CT:237619009;MedGen:C0751651,Orphanet:ORPHA68380;MedGen:C4016608	Diabetes-deafness syndrome maternally transmitted;Mitochondrial diseases;Myopathy, mitochondrial, with diabetes mellitus	germline	MT	14709	TCGCACGGACTACAACCACGACCAATGATATGAAAAACCATCGTTGTATTTCAACTACAAG
-1	472239	NM_002642.3(PIGC):c.635T>C (p.Leu212Pro)	PIGC	Dec 21, 2017	MedGen:CN703738,OMIM:617816	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16	germline	1	172441988	TGGTGACATTTGCCATTCAGATTTTTGCCCTGTGGCCCATGTTGCAGAAGAAACTAAAGGC
1085307324	414273	NM_001204.6(BMPR2):c.1258T>C (p.Cys420Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532714	GGACTAATCTATTGGGAGATATTTATGAGATGTACAGACCTCTTCCCAGGTAAAAACTACT
-1	444694	NM_000195.4(HPS1):c.398+2T>C	HPS1	Mar 10, 2017	MedGen:CN517202	not provided	germline	10	98435270	ACTGTGGACGGTCATCTTATCCGAAAGGAGTGAGTCTTCAAAGCTGGTCCCCTCTGTCCTT
796053152	201388	NM_021007.2(SCN2A):c.4718T>C (p.Leu1573Pro)	SCN2A	Mar 27, 2013	MedGen:CN517202	not provided	germline	2	165386912	TGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGAT
397509402	70484	NM_005236.2(ERCC4):c.689T>C (p.Leu230Pro)	ERCC4	May 02, 2013	MedGen:C3808988,OMIM:615272	Fanconi anemia, complementation group Q	germline	16	13928132	CTACCATGCTTGCTATACAGACTGCTATACTGGACATTTTAAATGCATGTCTAAAGGAACT
387907282	45779	NM_152296.4(ATP1A3):c.2431T>C (p.Ser811Pro)	ATP1A3	Jul 05, 2017	MedGen:C3553788,OMIM:614820;MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Alternating hemiplegia of childhood 2;Dystonia 12	de novo;germline	19	41970296	CCGGCCTCCTCCGCCTAGGTCCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGACA
-1	480736	NM_001791.3(CDC42):c.247T>C (p.Ser83Pro)	CDC42	Nov 01, 2017	MedGen:CN517202	not provided	de novo	1	22086507	CCACAAACAGATGTATTTCTAGTCTGTTTTTCAGTGGTCTCTCCATCTTCATTTGAAAACG
751325113	216019	NM_032357.3(CCDC115):c.92T>C (p.Leu31Ser)	CCDC115	Feb 26, 2016	MedGen:C4225191,OMIM:616828,Orphanet:ORPHA468684;MedGen:CN234782;MedGen:CN234782	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo;Congenital disorders of glycosylation type II;Congenital disorders of glycosylation type II	germline	2	130342034	TGGAGGAGCTGGAGGGGAAACGAACGGTGTTGAACGCCCGGGTGGAGGAGGTAGGCGCCTG
864321628	216917	NM_004606.4(TAF1):c.2419T>C (p.Cys807Arg)	TAF1	Dec 03, 2015	MedGen:C4225418,OMIM:300966	Mental retardation, X-linked, syndromic 33	germline	X	71387393	TTAGTGGATATTTTTGTGGTTGGCCAGCAGTGTCCCTTGTTTGAAGTTCCTGGGCCTAACT
1057518733	353957	NM_001098426.1(SMARCD2):c.401+2T>C	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	63837439	CAGCCTCCCATGCCTGCCCAGCGCCGGGGGTAAGAGCATCCTGCTTCTCTCACTCTGCCTA
864622060	221066	NM_017617.4(NOTCH1):c.4120T>C (p.Cys1374Arg)	NOTCH1	Jan 30, 2016	MedGen:C4014970,OMIM:616028	Adams-Oliver syndrome 5	germline;inherited	9	136505776	ATCTCCGGCCCGCGCAGCCCCACCTGCCTGTGCCTGGGCCCCTTCACGGGCCCCGAATGCC
398123457	99121	NM_000528.3(MAN2B1):c.2436+2T>C	MAN2B1	Mar 09, 2016	MedGen:C0024748,OMIM:248500,Orphanet:ORPHA61,SNOMED CT:124466001;MedGen:CN517202	Deficiency of alpha-mannosidase;not provided	germline;unknown	19	12649134	GCCTGAGAGATGGCTCGCTGGAGCTCATGGTGAGTGGGTCAGAGCCCCATCCGAGCCAGGG
756980496	486715	NM_015506.2(MMACHC):c.158T>C (p.Leu53Pro)	MMACHC	Mar 06, 2018	MedGen:CN847584	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	germline	1	45507432	TGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCT
730882250	181451	NM_001383.4(DPH1):c.701T>C (p.Leu234Pro)	DPH1	Jan 13, 2015	Human Phenotype Ontology:HP:0001320,MedGen:C1840379;Gene:1858,Human Phenotype Ontology:HP:0001305,MedGen:C0010964,OMIM:220200,Orphanet:ORPHA217,SNOMED CT:14447001;MedGen:C4310801,OMIM:616901,Orphanet:ORPHA459061;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0000238,MedGen:C1963137	Cerebellar vermis hypoplasia;Dandy-Walker syndrome;Developmental delay with short stature, dysmorphic features, and  sparse hair;Global developmental delay;Hydrocephalus	germline	17	2039760	CTTAGCCTCCTTTCCACCCCTGCAGGTATCTTGGAGATGGCCGCTTCCATCTGGAGTCTGT
121908142	19435	NM_001195794.1(CLRN1):c.488T>C (p.Leu163Pro)	CLRN1	Sep 01, 2002	MedGen:C1568248,OMIM:276902,Orphanet:ORPHA231183	Usher syndrome, type 3A	germline	3	150928186	TTTCTTCTGTTGCAGGCTCCTGTGGCTGTCTTGTCATGATATTGTTTGCCTCTGAAGTGAA
111033752	36577	NM_000155.3(GALT):c.677T>C (p.Leu226Pro)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648446	CCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCT
60715293	29689	NM_000424.3(KRT5):c.541T>C (p.Ser181Pro)	KRT5	Feb 01, 2000	MedGen:C0079295,OMIM:131760,Orphanet:ORPHA79396;MedGen:CN517202	Epidermolysis bullosa herpetiformis, Dowling-Meara;not provided	germline	12	52519756	CAGATCAAGACCCTCAACAATAAGTTTGCCTCCTTCATCGACAAGGTGAGCTACGATCTTT
713993047	171851	NM_001563.3(IMPG1):c.461T>C (p.Leu154Pro)	IMPG1	Feb 10, 2015	MedGen:C4015342,OMIM:616151	Macular dystrophy, vitelliform, 4	germline	6	76034628	TCAGCAATTCCCAGGAGCACCTGGATCTTCTCCAGCAGGTGAGCCTAAACACCACATGGTT
757789935	414723	NM_001232.3(CASQ2):c.234+2T>C	CASQ2	Aug 01, 2017	MedGen:CN517202	not provided	germline	1	115768306	AGTTCCAACTGAAAGAAATCGTGCTTGAGGTAAGTAACCAAAGGGCATGCTGTCTGCGCTG
886041401	264207	NM_058172.5(ANTXR2):c.134T>C (p.Leu45Pro)	ANTXR2	May 12, 2017	MedGen:CN517202	not provided	germline	4	80072427	AGCAGCCCTCCTGCAGAAGAGCCTTTGATCTCTACTTCGTCCTGGACAAGTGAGTGTGCGA
587777493	143203	NM_021072.3(HCN1):c.814T>C (p.Ser272Pro)	HCN1	Feb 02, 2017	MedGen:C4014531,OMIM:615871;MedGen:CN517202	Epileptic encephalopathy, early infantile, 24;not provided	germline	5	45645220	ATTCTCAGTCTCTTGCGTTTATTACGACTTTCAAGGTTAATTAGATACATACATCAATGGG
113994202	34034	NM_000430.3(PAFAH1B1):c.569-10T>C	PAFAH1B1	Jun 16, 2017	MedGen:C1843916,OMIM:607432;MedGen:CN517202	Lissencephaly 1;not provided	germline	17	2672645	GGTATATTACTTCATAATATATTGCTGTTATGTGTTTTAGGCCATGACCACAATGTTTCTT
539962457	432261	NM_001144869.2(LIPT2):c.89T>C (p.Leu30Pro)	LIPT2	Sep 15, 2017	MedGen:CN469328,OMIM:617668	ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	germline	11	74493615	TGGGGCTGCAGGACCGCTGGCTGCGGCGGCTGCAGGCCGAGCCAGGCATTGAGGCCCCGTC
137852269	25667	NM_000133.3(F9):c.1357T>C (p.Trp453Arg)	F9	Sep 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139562042	ATATATACCAAGGTATCCCGGTATGTCAACTGGATTAAGGAAAAAACAAAGCTCACTTAAT
878853241	237615	NM_004004.5(GJB2):c.400T>C (p.Trp134Arg)	GJB2	Feb 19, 2016	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	13	20189182	CAGAAGGTCCGCATCGAAGGCTCCCTGTGGTGGACCTACACAAGCAGCATCTTCTTCCGGG
63750640	96720	NM_000251.2(MSH2):c.929T>C (p.Leu310Pro)	MSH2	Dec 26, 2013	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47414405	TGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAA
74315338	22995	NM_000261.1(MYOC):c.1297T>C (p.Cys433Arg)	MYOC	Apr 01, 2000	MedGen:C1842028,OMIM:137750	Primary open angle glaucoma juvenile onset 1	germline	1	171636143	AAGCAGTCAGTCGCCAATGCCTTCATCATCTGTGGCACCTTGTACACCGTCAGCAGCTACA
-1	417146	NM_019098.4(CNGB3):c.129+2T>C	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86743497	GTAATCAGTCTCAGCAAACCACAGCACAGGTATGTCCTCTACATTCCTATGCAAGCCTTGA
1060499542	362521	NM_002609.3(PDGFRB):c.1696T>C (p.Trp566Arg)	PDGFRB	Jun 21, 2017	MedGen:CN177837,SNOMED CT:254146000;MedGen:CN517202	Infantile myofibromatosis;not provided	germline;not applicable;somatic	5	150125556	GTCCTCCAGAAGCCACGTTACGAGATCCGATGGAAGGTGATTGAGTCTGTGAGCTCTGACG
61752909	28157	NM_000329.2(RPE65):c.1022T>C (p.Leu341Ser)	RPE65	Mar 17, 1998	MedGen:C3151086,OMIM:613794;MedGen:CN517202	Retinitis pigmentosa 20;not provided	germline	1	68438293	TTTGCAGATTTGAGTTTGTTTATAATTACTTATATTTAGCCAATTTACGTGAGAACTGGGA
886038212	249262	NM_000223.3(KRT12):c.395T>C (p.Leu132Pro)	KRT12	Sep 26, 2016	Human Phenotype Ontology:HP:0007755,MedGen:C0339277,OMIM:122100,Orphanet:ORPHA98954,SNOMED CT:1674008	Meesman's corneal dystrophy	germline	17	40866792	CTGGATCAGAAAAAGAAACTATGCAAAATCTTAATGATAGATTAGCTTCCTACCTGGATAA
104894914	25547	NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg)	OPN1MW	Jan 01, 2009	Human Phenotype Ontology:HP:0011521,MedGen:C0155016,OMIM:303800;Human Phenotype Ontology:HP:0007939,MedGen:C0339537,OMIM:303700,Orphanet:ORPHA16,SNOMED CT:24704003	Colorblindness, partial, deutan series;Cone monochromatism	germline	X	154191716	AGGTACTGGCCCCACGGCCTGAAGACTTCATGCGGCCCAGACGTGTTCAGCGGCAGCTCGT
122468179	26444	NM_015884.3(MBTPS2):c.1424T>C (p.Phe475Ser)	MBTPS2	Apr 01, 2009	Gene:266959,MedGen:C1839988,OMIM:308205,Orphanet:ORPHA2273	IFAP syndrome with or without BRESHECK syndrome	germline	X	21882519	CTTTGGATGGACAATGGATTCTAAACTCTTTCTTGGATGCCACCCTTACCTCAGTGATTGG
1085307163	414090	NM_001204.6(BMPR2):c.100T>C (p.Cys34Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464832	ATTTTAGCTTCGCAGAATCAAGAACGGCTATGTGCGTTTAAAGATCCGTATCAGCAAGACC
886040855	262084	NM_001415.3(EIF2S3):c.665T>C (p.Ile222Thr)	EIF2S3	Jan 18, 2018	Gene:8422,MedGen:C1846278,OMIM:300148,OMIM:300987,Orphanet:ORPHA85282	MEHMO syndrome	germline	X	24064228	TAGGTACAGTAGCAGAGGGAGCTCCCATTATTCCAATTTCAGCTCAGCTGAAATACAATAT
-1	425896	NM_000314.6(PTEN):c.578T>C (p.Leu193Pro)	PTEN	Jun 22, 2017	MedGen:CN517202	not provided	germline	10	87952203	AGAATCATCTGGATTATAGACCAGTGGCACTGTTGTTTCACAAGATGATGTTTGAAACTAT
200511261	363896	NM_138694.3(PKHD1):c.9530T>C (p.Ile3177Thr)	PKHD1	Jan 06, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003;MedGen:CN517202	Autosomal recessive polycystic kidney disease;not provided	germline	6	51748086	TAGAGAACATTACTCTGGTAGACAATACTATTGGTCTTTTGGCAGTAGTGTATGTATTTTC
80356469	21404	NM_002977.3(SCN9A):c.647T>C (p.Phe216Ser)	SCN9A	Aug 26, 2008	MedGen:C0014805,OMIM:133020,Orphanet:ORPHA90026,SNOMED CT:403390002	Primary erythromelalgia	germline	2	166304279	ACCTAGGCAATGTTTCAGCTCTTCGAACTTTCAGAGTATTGAGAGCTTTGAAAACTATTTC
104894321	20164	NM_020661.3(AICDA):c.317T>C (p.Leu106Pro)	AICDA	Sep 01, 2000	MedGen:C1720956,OMIM:605258,Orphanet:ORPHA101089	Immunodeficiency with hyper IgM type 2	germline	12	8605325	ACTTTCTGCGAGGGAACCCCAACCTCAGTCTGAGGATCTTCACCGCGCGCCTCTACTTCTG
1064796429	411345	NM_001193416.2(DDX3X):c.659T>C (p.Leu220Ser)	DDX3X	Mar 08, 2017	MedGen:CN517202	not provided	germline	X	41343331	CTATTCCTATTATCAAAGAGAAAAGAGACTTGATGGCTTGTGCCCAAACAGGTAAGCTCAA
121917841	23139	NM_006261.4(PROP1):c.263T>C (p.Phe88Ser)	PROP1	Aug 01, 2000	MedGen:C0878683,OMIM:262600	Pituitary hormone deficiency, combined 2	germline	5	177994185	CAGTGCAGTTGGAACAGCTGGAGTCAGCCTTTGGGAGGAACCAGTACCCCGACATCTGGGC
863223295	26787	NM_001110556.1(FLNA):c.720+2T>C	FLNA	Dec 01, 1998	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	germline	X	154367639	AGGCGGATGACTGGCTGGGCATCCCCCAGGTACACCCGCCCGGCCTGGCTACAGCTGTAGG
104886288	36103	NM_000495.4(COL4A5):c.4699T>C (p.Cys1567Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108694817	TTCTCCTTTTCCTTTACCAGATGTGCAGTATGTGAAGCTCCAGCTGTGGTGATCGCAGTTC
267607504	77363	NM_002055.4(GFAP):c.221T>C (p.Met74Thr)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915266	AGACCCGGGCCAGTGAGCGGGCAGAGATGATGGAGCTCAATGACCGCTTTGCCAGCTACAT
118192156	76847	NM_000540.2(RYR1):c.14762T>C (p.Phe4921Ser)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38585058	AGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGC
587776813	29590	NM_000228.2(LAMB3):c.565-3T>C	LAMB3	Jul 01, 2008	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006	Adult junctional epidermolysis bullosa	somatic	1	209633136	TCTTCAGCGCTTCTCTTTCCCTTCCCTCTGTAGGTCCAACTTAACCTTATGGATTTAGTGT
387906965	39606	NM_024513.3(FYCO1):c.4127T>C (p.Leu1376Pro)	FYCO1	Jun 10, 2011	MedGen:C1864908,OMIM:610019	Cataract, autosomal recessive congenital 2	germline	3	45931195	AGCTGTTTGTGAGGTCCAGCACCTACAGCCTGATCCCCATCACTGTGGCCGAGGCAGGCCT
193922348	45049	NM_000206.2(IL2RG):c.455T>C (p.Val152Ala)	IL2RG	Aug 27, 2013	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006	X-linked severe combined immunodeficiency	germline	X	71110295	GAATGACCACATATGCACACATATCTCCAGTGATCCCCTGGGCTCCAGAGAACCTAACACT
121912762	32751	NM_016124.4(RHD):c.329T>C (p.Leu110Pro)	RHD	May 01, 1995	MedGen:C4015919	RhD category D-VII	germline	1	25284753	AGTTCCCTTCTGGGAAGGTGGTCATCACACTGTTCAGGTATTGGGATGGTGGCTGGATCAC
1057519691	434144	NM_174936.3(PCSK9):c.323T>C (p.Leu108Pro)	PCSK9	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	1	55043958	TGCAGGCCCAGGCTGCCCGCCGGGGATACCTCACCAAGATCCTGCATGTCTTCCATGGCCT
119103254	17343	NM_005609.3(PYGM):c.1187T>C (p.Leu396Pro)	PYGM	Jan 01, 1995	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009	Glycogen storage disease, type V	germline	11	64753931	AGCGCTGGCCGGTGCACCTCTTGGAGACGCTGCTGCCGCGGCACCTCCAGATCATCTACGA
36015961	30552	NM_000518.4(HBB):c.344T>C (p.Leu115Pro)	HBB	Feb 27, 2017	MedGen:C0472767,Orphanet:ORPHA231222,SNOMED CT:191189009;na;na	Beta thalassemia intermedia;HEMOGLOBIN BRESCIA;HEMOGLOBIN DURHAM-N.C.	germline	11	5225698	AGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCC
398124593	102501	NM_183050.3(BCKDHB):c.752T>C (p.Val251Ala)	BCKDHB	Aug 09, 2017	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001;MedGen:C1855370	Maple syrup urine disease;Maple syrup urine disease type 1B	germline	6	80200943	TTTTTCCTGTTCTGTATTTAGCGGAAGAAGTCCCTATAGAACCATACAACATCCCACTGTC
587776437	165634	NC_012920.1:m.9478T>C	MT-CO3	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	germline	MT	9478	ACGGGATAATCCTATTTATTACCTCAGAAGTTTTTTTCTTCGCAGGATTTTTCTGAGCCTT
886039370	445701	NM_144997.6(FLCN):c.1062+2T>C	FLCN	Aug 03, 2017	MedGen:CN517202	not provided	germline	17	17219017	TCTTCAAGTCCCTCCGGCACATGAGGCAGGTAGGCGGCAGGGGCACAGCGCATCAGGAGCT
63751006	31047	NM_002087.3(GRN):c.2T>C (p.Met1Thr)	GRN	Aug 24, 2006	MedGen:C1843792,OMIM:607485;MedGen:CN517202	Frontotemporal dementia, ubiquitin-positive;not provided	germline	17	44349166	GACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAAC
879254572	245630	NM_000527.4(LDLR):c.550T>C (p.Cys184Arg)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105456	GAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACA
875989876	227878	NM_000016.5(ACADM):c.464T>C (p.Met155Thr)	ACADM	Feb 20, 2015	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline	1	75734867	ATTTGGGGAGAATGACTGAGGAGCCATTGATGTGTGTGAGTATGTGTAACTGCCGCTTTAT
35256489	30391	NM_000518.4(HBB):c.332T>C (p.Leu111Pro)	HBB	Aug 26, 2016	MedGen:C0599528;MedGen:C3841475;MedGen:C4017522;na;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000	Beta thalassemia major;Beta-plus-thalassemia;Beta-showa-yakushiji thalassemia;HEMOGLOBIN SHOWA-YAKUSHIJI;beta Thalassemia	germline	11	5225710	TCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAA
387907233	44211	NM_012343.3(NNT):c.2930T>C (p.Leu977Pro)	NNT	Jul 20, 2012	MedGen:C3553587,OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	germline	5	43700172	GCCGAATGCCTGGTCAGCTTAATGTGCTGCTGGCTGAGGCTGGTGTGCCATATGACATTGT
121434275	18628	NM_000016.5(ACADM):c.1124T>C (p.Ile375Thr)	ACADM	Dec 01, 1991	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline	1	75761300	CAAATCAGTTAGCTACTGATGCTGTGCAGATACTTGGAGGCAATGGATTTAATACAGAATA
121912647	27732	NM_003235.4(TG):c.3733T>C (p.Cys1245Arg)	TG	Aug 01, 2006	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	Iodotyrosyl coupling defect	germline	8	132906786	TCGGGCCCCACAGGCTCTGCCATGCAGCAGTGCCAATTGCTGTGCCGCCAGGGCTCCTGGA
137852750	23847	NM_001204.6(BMPR2):c.367T>C (p.Cys123Arg)	BMPR2	Jan 01, 2001	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467638	TACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCAC
199472705	77990	NM_000218.2(KCNQ1):c.625T>C (p.Ser209Pro)	KCNQ1	Jun 24, 2016	EFO:EFO_0000275,Human Phenotype Ontology:HP:0005110,MedGen:C1963067;MedGen:C1837014,OMIM:607554;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007	Atrial fibrillation;Atrial fibrillation, familial, 3;Long QT syndrome	germline	11	2571345	CACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGG
587777871	166440	NM_017696.2(MCM9):c.1732+2T>C	MCM9	Dec 04, 2014	MedGen:C4015409,OMIM:616185,Orphanet:ORPHA444048;MedGen:C2749126,OMIM:311360	Ovarian dysgenesis 4;Premature ovarian failure 1	germline;inherited	6	118827925	GTTGGAAAGCTTGATACGATTAGCAGAAGGTCTATTTCATTCAGCGAATGATGCTTGTATT
773952935	271659	NM_001271208.1(NEB):c.294+2T>C	NEB	Jun 10, 2016	MedGen:C1850569,OMIM:256030;MedGen:CN517202	Nemaline myopathy 2;not provided	germline	2	151727689	GTCAGAAAATGCAGGATCTTTTTAGCCCAGTAAGTTTCAAACAACTTCTGCTAACCTGGCT
386833492	19136	NM_000112.3(SLC26A2):c.-26+2T>C	SLC26A2	Jul 18, 2013	MedGen:C0220726,OMIM:222600,Orphanet:ORPHA628,SNOMED CT:58561002	Diastrophic dysplasia	germline	5	149960981	GGTTGCCTGCAGCGGCCCGGACCCGAGAGGTGAGAAGAGGGAAGCGGACCAGGGAAGAGGG
1057519981	363455	NM_000546.5(TP53):c.712T>C (p.Cys238Arg)	TP53	May 31, 2016	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;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: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;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 stomach;Carcinoma of esophagus;Chronic lymphocytic leukemia;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Malignant neoplasm of body of uterus;Multiple myeloma;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 Carcinosarcoma;Uterine cervical neoplasms	germline;somatic	17	7674251	GACTGTACCACCATCCACTACAACTACATGTGTAACAGTTCCTGCATGGGCGGCATGAACC
1057517841	359504	NM_003722.4(TP63):c.1727T>C (p.Ile576Thr)	TP63	Aug 10, 2017	MedGen:CN239305;MedGen:CN517202	TP63-Related Spectrum Disorders;not provided	germline	3	189890863	CGACCCAGGGGCTGACCACCATCTATCAGATTGAGCATTACTCCATGGATGTAAGTAACTG
121918643	27896	NM_003126.3(SPTA1):c.620T>C (p.Leu207Pro)	SPTA1	Dec 15, 2005	MedGen:C1851741,OMIM:130600;Human Phenotype Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED CT:9434008	Elliptocytosis 2;Hereditary pyropoikilocytosis	germline	1	158680641	ATAAGAAATTTGAAGACTTCCAAGTGGAGCTGGTAGCTAAAGAAGGGAGAGTTGTTGAAGT
28935196	25767	NM_000169.2(GLA):c.484T>C (p.Trp162Arg)	GLA	Dec 01, 1993	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101401695	TACGACATTGATGCCCAGACCTTTGCTGACTGGGGAGTAGATCTGCTAAAATTTGATGGTT
397514692	59457	NM_001033053.2(NLRP1):c.230T>C (p.Met77Thr)	NLRP1	Apr 01, 2013	Gene:107988031,MedGen:C3808876,OMIM:615225,OMIM:616964	Palmoplantar carcinoma, multiple self-healing	germline	17	5583728	GGGACCTAGCCCTCCATACCTGGGAGCAGATGGGGCTGAGGTCACTGTGCGCCCAAGCCCA
869312727	225900	NM_017671.4(FERMT1):c.1139+2T>C	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6094937	AAACTTGCAGATAATCTCAAATTATTTAGGTAAGTAAACTTTTATGGGGAAAAGGAGTTAC
121912726	32967	NM_000039.2(APOA1):c.220T>C (p.Trp74Arg)	APOA1	Jun 15, 1996	MedGen:C0268389,OMIM:105200,Orphanet:ORPHA85450,SNOMED CT:66451004	Familial visceral amyloidosis, Ostertag type	germline	11	116836392	TCACCCTCCAGCCTAAAGCTCCTTGACAACTGGGACAGCGTGACCTCCACCTTCAGCAAGC
387906586	38545	NM_001458.4(FLNC):c.752T>C (p.Met251Thr)	FLNC	Jun 10, 2011	MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273	Myopathy, distal, 4	germline	7	128837450	TGGACCCCAACGTGGATGAGCATTCTGTTATGACCTACCTGTCCCAGTTCCCCAAGGCCAA
104893939	28803	NM_003122.4(SPINK1):c.41T>C (p.Leu14Pro)	SPINK1	May 01, 2007	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Hereditary pancreatitis	germline	5	147831537	CAGGCATCTTTCTTCTCAGTGCCTTGGCCCTGTTGAGTCTATCTGGTAAGTGTTGCATATT
-1	439491	NM_153223.3(CEP120):c.581T>C (p.Val194Ala)	CEP120	Nov 06, 2017	MedGen:CN593637,OMIM:617761	JOUBERT SYNDROME 31	germline	5	123399167	AATACTGTACTGACTCCTTTATTATGTCAGTGACCATAGCATTTGCTACCCAGTTGGAACA
780724594	368693	NM_181523.2(PIK3R1):c.1568+2T>C	PIK3R1	Jun 16, 2015	MedGen:CN517202	not provided	germline	5	68294680	CGTGAAGGCAATGAGAAAGAAATACAAAGGTTGGTGTTTCCCTTGTTCTTGTGCTAGAGAT
104894795	26532	NM_006579.2(EBP):c.53T>C (p.Leu18Pro)	EBP	Sep 15, 2004	MedGen:C4085243,OMIM:300960,Orphanet:ORPHA401973	MEND syndrome	germline	X	48523824	TGCACCCATACTGGCCTCAGCACCTAAGACTGGACAACTTTGTACCTAATGACCGCCCCAC
199472999	78292	NM_000238.3(KCNH2):c.2414T>C (p.Phe805Ser)	KCNH2	Feb 02, 2012	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150949034	CTCCATGGCCTCCAGGGAAGAATGACATCTTTGGGGAGCCTCTGAACCTGTATGCAAGGCC
267607020	16119	NM_015272.4(RPGRIP1L):c.1975T>C (p.Ser659Pro)	RPGRIP1L	Feb 23, 2015	MedGen:C1857662,OMIM:216360,Orphanet:ORPHA1454;MedGen:C1969053,OMIM:611560	COACH syndrome;Joubert syndrome 7	germline;unknown	16	53652712	CGAGGCCTTCATCCCGAATATAACTTCACTTCTCAATATCTTGTTCATGTTAATGACTTAT
1131692149	418954	NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser)	HPS5	Mar 14, 2017	MedGen:C3888004,OMIM:614074	Hermansky-Pudlak syndrome 5	paternal	11	18291663	CAAGTGGTCTTCGGAACGACCTGGCTGAATTGACAACATTATGTTTGGAGTTGAATGTATT
267606890	24751	m.10191T>C	MT-ND3	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1838979,OMIM:252010	Leigh syndrome;Mitochondrial complex I deficiency	germline	MT	10191	ACCCCTTACGAGTGCGGCTTCGACCCTATATCCCCCGCCCGCGTCCCTTTCTCCATAAAAT
121913521	362794	NM_000222.2(KIT):c.1679T>C (p.Val560Ala)	KIT	Oct 02, 2014	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Malignant melanoma	somatic	4	54727447	AACCCATGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTA
121912820	32550	NM_020549.4(CHAT):c.629T>C (p.Leu210Pro)	CHAT	Feb 13, 2001	MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Familial infantile myasthenia	germline	10	49620544	ATGACATGTATCTCAACAACCGCCTGGCCCTGCCTGTCAACTCCAGCCCTGCCGTGATCTT
121908646	21374	NM_000050.4(ASS1):c.535T>C (p.Trp179Arg)	ASS1	Aug 07, 2017	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187;MedGen:C4016834;MedGen:CN517202	Citrullinemia type I;Citrullinemia, mild;not provided	germline;unknown	9	130470873	ATTCCCATCCCGGTCACTCCCAAGAACCCGTGGAGCATGGATGAGAACCTCATGCACATCA
886041909	264734	NM_001127221.1(CACNA1A):c.4105T>C (p.Cys1369Arg)	CACNA1A	Jul 20, 2016	MedGen:CN517202	not provided	germline	19	13261598	GTCAACTCCACCCCACAGGCTGTGTTTGACTGTGTGGTGAACTCACTTAAAAACGTCTTCA
374259530	203840	NM_000026.3(ADSL):c.340T>C (p.Tyr114His)	ADSL	Oct 20, 2017	MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008;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	Adenylosuccinate lyase deficiency;Difficulty standing;Generalized myoclonic seizures;Inability to walk;Progressive neurologic deterioration;Severe global developmental delay;not provided	germline;unknown	22	40350018	GGCATTATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGTAGGCGCCTGTG
397507512	48969	NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu)	PTPN11	Mar 27, 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	112450391	GATTACTATGACCTGTATGGAGGGGAGAAATTTGCCACTTTGGCTGAGTTGGTCCAGTATT
267606706	28850	NM_005188.3(CBL):c.1111T>C (p.Tyr371His)	CBL	Dec 09, 2016	Human Phenotype Ontology:HP:0004377,MeSH:D019337,MedGen:C0376545,SNOMED CT:129154003;MedGen:C4016301;MedGen:CN517202	Hematologic neoplasm;Noonan syndrome-like disorder with juvenile myelomonocytic leukemia;not provided	germline;somatic;unknown	11	119278181	TTTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTAT
121434264	18311	NM_024529.4(CDC73):c.191T>C (p.Leu64Pro)	CDC73	Dec 01, 2002	MedGen:C1840402,OMIM:145000	Hyperparathyroidism 1	germline	1	193125171	ACTACACATTGGATTCCATTTTATTTCTACTTAATAACGTGCACCTTTCTCATCCTGTTTA
199473692	171896	NM_001130823.2(DNMT1):c.1531T>C (p.Tyr511His)	DNMT1	Oct 13, 2015	MedGen:C3279885,OMIM:614116,Orphanet:ORPHA456318;MedGen:CN517202	Hereditary sensory neuropathy type IE;not provided	germline	19	10155018	GAATACATTCTGATGGATCCCAGTCCCGAGTATGCGCCCATATTTGGGCTGATGCAGGAGA
730882156	181300	NM_000899.4(KITLG):c.98T>C (p.Val33Ala)	KITLG	Feb 26, 2015	Gene:780897,MedGen:C1840392,OMIM:145250,Orphanet:ORPHA280628	Familial progressive hyperpigmentation with or without hypopigmentation	germline	12	88545783	TCAAAACTGAAGGGATCTGCAGGAATCGTGTGACTAATAATGTAAAAGACGTCACTAAATT
104893758	28650	NM_001122757.2(POU1F1):c.655T>C (p.Trp219Arg)	POU1F1	Apr 01, 2001	MedGen:C2751608,OMIM:613038	Pituitary hormone deficiency, combined 1	germline	3	87262098	GCATGCAAACTGAAAGCAATATTATCCAAATGGCTGGAGGAAGCTGAGCAAGTAGGAGGTA
121918110	28411	NM_001042465.2(PSAP):c.1055T>C (p.Leu352Pro)	PSAP	Dec 01, 2007	MedGen:C1864651,OMIM:610539,Orphanet:ORPHA309252	Gaucher disease, atypical, due to saposin C deficiency	germline	10	71819860	TCGACGCTTTTGACAAAATGTGCTCGAAGCTGCCGAAGTCCCTGTCGGAAGAGTGCCAGGA
5030777	187217	NM_000510.2(FSHB):c.298T>C (p.Cys100Arg)	FSHB	Apr 06, 2015	MedGen:C1856716,OMIM:229070,Orphanet:ORPHA52901	Follicle-stimulating hormone deficiency, isolated	germline	11	30233708	TCCTTGTATACATACCCAGTGGCCACCCAGTGTCACTGTGGCAAGTGTGACAGCGACAGCA
1085307409	414388	NM_000020.2(ACVRL1):c.818T>C (p.Leu273Pro)	ACVRL1	-	MedGen:C1832529	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	12	51915270	ACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGG
587777627	153734	NM_001256849.1(POLD1):c.1421T>C (p.Leu474Pro)	POLD1	Oct 20, 2016	Gene:100271691,MedGen:C2675481,OMIM:612591;MedGen:C0027672,SNOMED CT:699346009	Colorectal cancer 10;Hereditary cancer-predisposing syndrome	germline;unknown	19	50406444	TGCGGGAGTACAAGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCACTTCCTGGGCGA
1064792864	224755	NM_001257989.1(TYMP):c.478T>C (p.Ser160Pro)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50528550	CACACAGGAGGCACCTTGGATAAGCTGGAGTCTATTCCTGGATTCAATGTCATCCAGAGCC
774843953	204362	NM_000083.2(CLCN1):c.1283T>C (p.Phe428Ser)	CLCN1	Sep 18, 2015	MedGen:C0027127,Orphanet:ORPHA206973;MedGen:CN517202	Myotonia congenita;not provided	germline	7	143332755	TGATGCCCCGCGAAGCCATCAGTACTTTGTTTGACAACAATACATGGGTGAAACACGCGGG
879254558	245609	NM_000527.4(LDLR):c.517T>C (p.Cys173Arg)	LDLR	Apr 24, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841	Familial hypercholesterolemia;Familial hypercholesterolemias	germline	19	11105423	CAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGC
587780577	139903	NM_130838.1(UBE3A):c.2T>C (p.Met1Thr)	UBE3A	Jan 28, 2015	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25405461	CTCAGTCTGACGACATTGAAGCTAGCCGAATGTAAGTGTAACTTGGTTGAGACTGTGGTTC
140807148	245493	NM_000527.4(LDLR):c.325T>C (p.Cys109Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11105231	GGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATG
398122838	97331	NM_001271723.1(FBXO38):c.616T>C (p.Cys206Arg)	FBXO38	Nov 07, 2013	MedGen:C3711384,OMIM:615575	Distal hereditary motor neuronopathy 2D	germline	5	148404708	GTTTTAGGGGTGAATGTTCCTGAAATTCCTTGTATCCCAATGCTAAGGCACCTTTATATGA
-1	426951	NM_001171.5(ABCC6):c.2258T>C (p.Leu753Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16178955	TGTTCCTTTTGTGGCCACAGGGCATGAATCTCTCCGGAGGCCAGAAGCAGCGGCTGAGCCT
121965064	26931	NM_000128.3(F11):c.901T>C (p.Phe301Leu)	F11	Jun 14, 2016	MedGen:C0015523,OMIM:612416,Orphanet:ORPHA329,SNOMED CT:49762007	Hereditary factor XI deficiency disease	germline;unknown	4	186280258	TGCCATTCTTCATTTTACCATGACACTGATTTCTTGGGAGAAGAACTGGATATTGTTGCTG
886037965	248904	NM_006545.4(NPRL2):c.314T>C (p.Leu105Pro)	NPRL2	Sep 21, 2016	MedGen:C4310709,OMIM:617116	Epilepsy, familial focal, with variable foci 2	germline	3	50349690	CCTGCGCCCTCGAGCCCATTGTTAAAAAGCTGGCTGGCTATCTGACCACACTAGAGGTCTG
397514570	48323	NM_000431.3(MVK):c.764T>C (p.Leu255Pro)	MVK	Nov 15, 2012	MedGen:C1867981,OMIM:175900	Porokeratosis, disseminated superficial actinic 1	germline	12	109590857	CCCTTGTGGCTGGCGTCAGAAACAGGCTGCTCAAGGTGACTCTTGTTCCCTTCTTGGGCAG
121909247	23167	NM_004970.2(IGFALS):c.1618T>C (p.Cys540Arg)	IGFALS	Nov 01, 2007	MedGen:CN069120,OMIM:615961	Acid-labile subunit deficiency	germline	16	1790800	CGCCTGTGGCTGGAGGGTAACCCCTGGGACTGTGGCTGCCCTCTCAAGGCGCTGCGGGACT
28928893	29658	NM_000526.4(KRT14):c.356T>C (p.Met119Thr)	KRT14	Sep 01, 2011	MedGen:C0079295,OMIM:131760,Orphanet:ORPHA79396;MedGen:CN517202	Epidermolysis bullosa herpetiformis, Dowling-Meara;not provided	germline	17	41586479	GGCTTCTGGTGGGCAGTGAGAAGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTA
5030841	15647	NM_000277.2(PAH):c.143T>C (p.Leu48Ser)	PAH	Mar 30, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102912816	TCTTCTCACTCAAAGAAGAAGTTGGTGCATTGGCCAAAGTATTGCGCTTATTTGAGGTCAG
121912588	17478	NM_001173464.1(KIF21A):c.1067T>C (p.Met356Thr)	KIF21A	Jan 14, 2016	MedGen:C1851102,OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	germline	12	39358326	CATGTGTCAGCCCTTCAGACAGAGACTTTATGGAAACGTTAAACACCCTGAAATACGCCAA
-1	432151	NM_000444.5(PHEX):c.1216T>C (p.Cys406Arg)	PHEX	Jun 12, 2017	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22114500	ACCACAACTTTGCTGCCTCAATGGGACAAATGTGTAAACTTTATTGAAAGTGCCCTCCCTT
1085307413	414392	NM_000020.2(ACVRL1):c.950T>C (p.Ile317Thr)	ACVRL1	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	12	51915402	CATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGC
121917834	28247	NM_003018.3(SFTPC):c.218T>C (p.Ile73Thr)	SFTPC	Jul 01, 2009	MedGen:C1970470,OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2	germline	8	22163096	TGCCCTTTCCCCAGGTTCTGGAGATGAGCATTGGGGCGCCGGAAGCCCAGCAACGCCTGGC
80356668	28417	NM_000207.2(INS):c.143T>C (p.Phe48Ser)	INS	Jan 15, 1993	MedGen:C0342283,OMIM:616214	Hyperproinsulinemia	germline	11	2160829	CTCTCTACCTAGTGTGCGGGGAACGAGGCTTCTTCTACACACCCAAGACCCGCCGGGAGGC
886039819	260581	NM_001235.3(SERPINH1):c.710T>C (p.Met237Thr)	SERPINH1	Oct 12, 2016	MedGen:C3151211,OMIM:613848	Osteogenesis imperfecta type 10	germline	11	75568818	CTCGGTCCTATACCGTGGGTGTCATGATGATGCACCGGACAGGTAGGTGCTGTGAGGAGCA
794726821	187752	NM_001165963.1(SCN1A):c.4055T>C (p.Leu1352Pro)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166002701	GAGCAATTCCATCCATCATGAATGTGCTTCTGGTTTGTCTTATATTCTGGCTAATTTTCAG
199476191	47874	NM_207352.3(CYP4V2):c.655T>C (p.Tyr219His)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186197583	ATTGGTGCTCAAAGTAATGATGATTCCGAGTATGTCCGTGCAGTTTATAGGTAAATGGAGT
398123317	187338	NM_000314.6(PTEN):c.202T>C (p.Tyr68His)	PTEN	Jul 11, 2017	MedGen:CN072330,OMIM:158350;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	Cowden syndrome 1;Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided	germline	10	87925550	GATTCAAAGCATAAAAACCATTACAAGATATACAATCTGTAAGTATGTTTTCTTATTTGTA
121912662	27414	NM_000546.5(TP53):c.1031T>C (p.Leu344Pro)	TP53	Oct 01, 1999	Gene:553989,MedGen:C1835398,OMIM:151623	Li-Fraumeni syndrome 1	germline	17	7670678	GGCGTGAGCGCTTCGAGATGTTCCGAGAGCTGAATGAGGCCTTGGAACTCAAGGATGCCCA
72556273	103111	NM_000531.5(OTC):c.490T>C (p.Ser164Pro)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401378	GAAGCATCCATCCCAATTATCAATGGGCTGTCAGATTTGTACCATCCTATCCAGATCCTGG
137853296	28131	NM_000321.2(RB1):c.2134T>C (p.Cys712Arg)	RB1	Dec 09, 2014	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	48463758	TAGATTATGATGTGTTCCATGTATGGCATATGCAAAGTGAAGAATATAGACCTTAAATTCA
28936678	23704	NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro)	KCNJ11	Mar 16, 2015	MedGen:C0027773,OMIM:601820,SNOMED CT:42681006	Islet cell hyperplasia	germline;paternal	11	17387652	TGGTGACTGAGGAGTGCCCACTGGCCATCCTGATCCTCATCGTGCAGAACATCGTGGGGCT
1057520728	374156	NM_000138.4(FBN1):c.7465T>C (p.Cys2489Arg)	FBN1	May 18, 2015	MedGen:CN517202	not provided	germline	15	48422057	CTCTTGCATTTTCTTGTAGATCTTGATGAGTGTGCAACCAAGCAACACAACTGCCAGTTCC
61750146	105173	NM_000350.2(ABCA4):c.4462T>C (p.Cys1488Arg)	ABCA4	Oct 12, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94029522	AAATGGACACAGGTCAACCCTTCACCATCCTGCAGGTGCAGCACCAGGGAGAAGCTCACCA
886041874	263935	NM_006623.3(PHGDH):c.290+2T>C	PHGDH	Jul 06, 2016	Human Phenotype Ontology:HP:0200134,MedGen:C0543888;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;MedGen:CN517202	Epileptic encephalopathy;Seizures;not provided	germline;unknown	1	119721323	GCAACAAGGAAGGGCATCTTGGTTATGAAGTAAGTCATGGAGGCTGCGGGCGGTTTGGGGG
104893938	28800	NM_003122.4(SPINK1):c.2T>C (p.Met1Thr)	SPINK1	Jun 01, 2000	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Hereditary pancreatitis	germline	5	147831576	AACTGACCTCTGGACGCAGAACTTCAGCCATGAAGGTAACAGGCATCTTTCTTCTCAGTGC
1085307418	414397	NM_000020.2(ACVRL1):c.1195T>C (p.Trp399Arg)	ACVRL1	-	MedGen:C1832529	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	12	51916182	TGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTG
387906982	39662	NM_025132.3(WDR19):c.20T>C (p.Leu7Pro)	WDR19	Nov 11, 2011	MedGen:C3280598,OMIM:614376	Asphyxiating thoracic dystrophy 5	germline	4	39185739	TTGTGTTTATTTTTTAGCGTATTTTCTCACTGCTAGAAAAGACTTGGCTTGGCGCACCAAT
111033757	36585	NM_000155.3(GALT):c.745T>C (p.Trp249Arg)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648819	TGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTC
180177254	200528	NM_000030.2(AGXT):c.661T>C (p.Ser221Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240874043	CTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCC
121913346	180119	NM_000551.3(VHL):c.473T>C (p.Leu158Pro)	VHL	Oct 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	10149796	ATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAG
111033695	36510	NM_000155.3(GALT):c.425T>C (p.Met142Thr)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647879	ACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGA
72554320	103017	NM_000531.5(OTC):c.167T>C (p.Met56Thr)	OTC	Feb 02, 2017	MedGen:CN517202;MedGen:CN169374	not provided;not specified	germline;unknown	X	38367380	AAAACTTTACCGGAGAAGAAATTAAATATATGCTATGGCTATCAGCAGATCTGAAATTTAG
-1	440199	NM_001080463.1(DYNC2H1):c.10126T>C (p.Phe3376Leu)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	11	103253347	ATTATTGACTACAATGAAGAATTCCGCCTCTTTTTGTCAACAAGAAACCCAAATCCTTTTA
397509210	70007	NM_007294.3(BRCA1):c.4986+2T>C	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43070926	TGGTGTCTGGCCTGACCCCAGAAGAATTTGTGAGTGTATCCATATGTATCTCCCTAATGAC
121434261	18336	NM_000268.3(NF2):c.185T>C (p.Phe62Ser)	NF2	Aug 01, 2002	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29636821	GGACTCTGGGGCTCCGAGAAACCTGGTTCTTTGGACTGCAGTACACAATCAAGGACACAGT
587776451	166050	NM_002049.3(GATA1):c.2T>C (p.Met1Thr)	GATA1	Apr 17, 2014	MedGen:C1845837,OMIM:300367,Orphanet:ORPHA67044	GATA-1-related thrombocytopenia with dyserythropoiesis	germline	X	48791111	GTCCTCGCAGGTTAATCCCCAGAGGCTCCATGGAGTTCCCTGGCCTGGGGTCCCTGGGGAC
-1	440162	NM_001080463.1(DYNC2H1):c.6866T>C (p.Leu2289Pro)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103186474	TAAGTTCTGATACTAAACAGCCCTTTATTCTGGTAGGACCAGAAGGATGTGGCAAAGGGTA
864309738	216043	NM_000255.3(MUT):c.1553T>C (p.Leu518Pro)	MUT	Dec 01, 2016	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49447677	CTTCAGTGCGAAACAGGCAGATTGAAAAACTTAAGAAGGTATTAATAGCTTGCTTTTTTTT
886041346	265013	NM_000267.3(NF1):c.2T>C (p.Met1Thr)	NF1	Oct 04, 2016	MedGen:CN517202	not provided	germline	17	31095311	CTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCA
756007198	353988	NM_172107.3(KCNQ2):c.1203T>C (p.Ser401=)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63428381	GGAGCTGCTGAGGAACCTCAAGAGTAAATCTGGACTCGCTTTCAGGTCAGCTGGGGAGCTC
-1	426899	NM_001171.5(ABCC6):c.3074T>C (p.Leu1025Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16165855	GGGCATCCAGGTTGCTCTTCCAGAGGCTCCTGTGGGATGTGGTGCGATCTCCCATCAGCTT
772683361	486934	NM_000182.4(HADHA):c.676+2T>C	HADHA	Jun 26, 2017	MedGen:CN074230,OMIM:609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	germline	2	26230190	ACTGGTTGACCAACTGGTGGAACCCCTGGGTAAGTGTTAGCACATCTCAGAGTCAGACCTT
121912446	29807	NM_000454.4(SOD1):c.434T>C (p.Leu145Ser)	SOD1	May 03, 2016	MedGen:C1862939,OMIM:105400;MedGen:CN517202	Amyotrophic lateral sclerosis type 1;not provided	germline	21	31668547	GTACAAAGACAGGAAACGCTGGAAGTCGTTTGGCTTGTGGTGTAATTGGGATCGCCCAATA
80338766	34306	NM_006329.3(FBLN5):c.649T>C (p.Cys217Arg)	FBLN5	Jan 01, 2013	MedGen:CN033664,OMIM:219100	Autosomal recessive cutis laxa type IA	germline	14	91887283	GATGTGAACGAGTGTGCCACCGAGAACCCCTGCGTGCAAACCTGCGTCAACACCTACGGCT
-1	442981	NM_021007.2(SCN2A):c.386+2T>C	SCN2A	Nov 01, 2015	MedGen:CN517202	not provided	germline	2	165297137	AAATTAGCTATTAAGATTTTGGTACATTCATATCCTTTTTCAAATCGTCACTTAATATGAT
483352888	136642	NM_000271.4(NPC1):c.2054T>C (p.Ile685Thr)	NPC1	-	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23544420	TCAGCTACATTGGGTTGCCCTTGACCCTCATTGTGATTGAAGTCATCCCGTTCCTGGTGCT
146795505	247698	NM_014321.3(ORC6):c.2T>C (p.Met1Thr)	ORC6	Aug 30, 2016	MedGen:C3151113,OMIM:613803;MedGen:CN517202	Meier-Gorlin syndrome 3;not provided	germline	16	46689707	CGGGAATTGTTCGCTTTAGTGCCGGCGCCATGGGGTCGGAGCTGATCGGGCGCCTAGCCCC
397514488	45743	NM_001161581.1(POC1A):c.398T>C (p.Leu133Pro)	POC1A	Aug 10, 2012	MedGen:C3542022,OMIM:614813,Orphanet:ORPHA314394	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	germline	3	52147039	TGTCTGCCAGTGATGACAAGACTGTTAAGCTGTGGGACAAGAGCAGCCGGGAATGTGTCCA
864622780	222925	NM_001001438.2(LSS):c.1741T>C (p.Trp581Arg)	LSS	Jan 17, 2017	MedGen:C4225300,OMIM:616509	Cataract 44	germline	21	46195752	CTGAGGCTCTCCCTGTTTCCCTCCAGCTCCTGGGGAGTTTGCTTCACCTACGGCACCTGGT
879254951	246230	NM_000527.4(LDLR):c.1597T>C (p.Trp533Arg)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116104	ATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCA
199472833	78441	NM_000238.3(KCNH2):c.92T>C (p.Ile31Thr)	KCNH2	Sep 20, 2013	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150974926	TCCCCGCCCCCCTAGGCCGTAAGTTCATCATCGCCAACGCTCGGGTGGAGAACTGCGCCGT
121909337	23502	NM_001451.2(FOXF1):c.1138T>C (p.Ter380Arg)	FOXF1	Jun 01, 2009	Human Phenotype Ontology:HP:0011726,MedGen:C0031190,OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins	germline	16	86513083	ACCTACCAAGACATCAAGCCTTGCGTGATGTGAGGCTGCCGCCGCAGGCCCTCCTGGTGCA
104893693	23361	NM_000388.3(CASR):c.2417T>C (p.Phe806Ser)	CASR	May 01, 1996	MedGen:C0342345,OMIM:601198	Hypocalcemia, autosomal dominant 1	germline	3	122284371	AGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCAT
387906430	25180	NM_000132.3(F8):c.985T>C (p.Cys329Arg)	F8	Mar 01, 1990	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969355	TTGATGGACCTTGGACAGTTTCTACTGTTTTGTCATATCTCTTCCCACCAACATGGTAATA
59985777	77411	NM_002055.4(GFAP):c.992T>C (p.Leu331Pro)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911371	CGGCCAGTTATCAGGAGGCGCTGGCGCGGCTGGAGGAAGAGGGGCAGAGCCTCAAGGACGA
387906924	39481	NM_020191.2(MRPS22):c.644T>C (p.Leu215Pro)	MRPS22	Apr 01, 2011	MedGen:C2673642,OMIM:611719,Orphanet:ORPHA137908	Combined oxidative phosphorylation deficiency 5	germline	3	139350318	TGACACCAATAATTTTCAAGGAAGAAAATCTTAGGGTAAGGTGACTTAGGTTTTATGTTTT
104894052	23933	NM_000193.3(SHH):c.995T>C (p.Val332Ala)	SHH	May 15, 2004	Human Phenotype Ontology:HP:0006315,MedGen:C1840235,OMIM:147250	Single median maxillary incisor	germline	7	155803294	ACGGGGACCGCCGGCTCCTGCCCGCCGCTGTGCACAGCGTGACCCTAAGCGAGGAGGCCGC
1135402749	424968	NM_007103.3(NDUFV1):c.1118T>C (p.Phe373Ser)	NDUFV1	-	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	biparental	11	67611934	TCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTAC
74315492	18321	NM_000268.3(NF2):c.1079T>C (p.Leu360Pro)	NF2	Jun 10, 1993	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	unknown	22	29671905	AACGCACGAGGGATGAGTTGGAGAGGAGGCTGCTGCAGATGAAAGAAGAAGCAACAATGGC
879253816	214553	NM_000532.4(PCCB):c.1498+2T>C	PCCB	-	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136328859	TGCCAACCCTTTCCCTGCAGCAGTGCGAGGTAGGGGACTGTGGTGAAGAGGGCAGCTTTGT
137852636	24296	NM_001166107.1(HMGCS2):c.520T>C (p.Phe174Leu)	HMGCS2	Mar 01, 2001	MedGen:C2751532,OMIM:605911,Orphanet:ORPHA35701	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency	germline	1	119764211	AATGCCTGCTACGGTGGTACTGCCTCCCTCTTCAATGCTGCCAACTGGATGGAGTCCAGTT
606231448	170990	NM_152296.4(ATP1A3):c.1144T>C (p.Trp382Arg)	ATP1A3	May 04, 2014	MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Dystonia 12	germline	19	41981956	ACTCAGAACCGCATGACAGTCGCCCACATGTGGTTTGACAACCAGATCCACGAGGCTGACA
1131692163	423701	NM_003403.4(YY1):c.1097T>C (p.Leu366Pro)	YY1	Jul 07, 2017	MedGen:CN303159,OMIM:617557	GABRIELE-DE VRIES SYNDROME	germline	14	100277452	CGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAAT
45517255	58757	NM_000548.4(TSC2):c.2690T>C (p.Phe897Ser)	TSC2	Jun 17, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2076118	GTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGA
121909530	33329	NM_001100.3(ACTA1):c.668T>C (p.Leu223Pro)	ACTA1	Apr 11, 2013	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007	Congenital myopathy with fiber type disproportion	germline	1	229432134	ACATCAAGGAGAAGCTGTGCTACGTGGCCCTGGACTTCGAGAACGAGATGGCGACGGCCGC
121918634	27883	NM_003126.3(SPTA1):c.779T>C (p.Leu260Pro)	SPTA1	May 27, 2016	MedGen:C1851741,OMIM:130600;MedGen:CN517202	Elliptocytosis 2;not provided	germline	1	158678434	GTGGTTTGGCTCTCCAGAGACAGAAAGCTCTGTCCAATGCTGCAAACTTACAACGATTCAA
774648925	427004	NM_001171.5(ABCC6):c.1589T>C (p.Leu530Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16190210	AGGAGCTGGGCGCCTTGCGGACCTCCGGCCTCCTCTTCTCTGTGTCGCTGGTGTCCTTCCA
137853018	20558	NM_014363.5(SACS):c.9742T>C (p.Trp3248Arg)	SACS	Jan 13, 2004	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98	Spastic ataxia Charlevoix-Saguenay type	germline	13	23334134	TTTGCAAGTGAGTCTTGGCTTAAGAATGCATGGCATTTTATTAGTGAATCTGTAAGTGTGA
28936683	23420	NM_000557.4(GDF5):c.1322T>C (p.Leu441Pro)	GDF5	Mar 01, 2006	MedGen:C1856738,OMIM:228900,Orphanet:ORPHA2639;Human Phenotype Ontology:HP:0009372,MedGen:C1832702,OMIM:112600,Orphanet:ORPHA93396	Fibular hypoplasia and complex brachydactyly;Type A2 brachydactyly	germline	20	35434093	GGCTGTGCGAGTTCCCATTGCGCTCCCACCTGGAGCCCACGAATCATGCAGTCATCCAGAC
137852656	24234	NM_000095.2(COMP):c.1042T>C (p.Cys348Arg)	COMP	Nov 22, 2001	MedGen:C0410538,OMIM:177170,Orphanet:ORPHA750,SNOMED CT:22567005	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	germline	19	18787584	AACACGGACGAGGACAAGTGGGGCGATGCGTGCGACAACTGCCGGTCCCAGAAGAACGACG
80356501	34138	NM_001457.3(FLNB):c.4804T>C (p.Ser1602Pro)	FLNB	Oct 09, 2008	MedGen:C3668942,OMIM:108721,Orphanet:ORPHA56305	Atelosteogenesis type 3	not provided	3	58136111	GTCACCTACGGGGGTGACGACATCCCACTTTCTCCTTATCGCATCCGAGCCACACAGACGG
878853250	237762	NM_014191.3(SCN8A):c.800T>C (p.Leu267Ser)	SCN8A	-	Human Phenotype Ontology:HP:0002376,MedGen:C1855009;Human Phenotype Ontology:HP:0006834,MedGen:C1836829;Human Phenotype Ontology:HP:0200134,MedGen:C0543888;Human Phenotype Ontology:HP:0010818,MedGen:C1836508;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0010864,MedGen:C0036857	Developmental regression;Developmental stagnation at onset of seizures;Epileptic encephalopathy;Generalized tonic seizures;Global developmental delay;Intellectual disability, severe	de novo	12	51699663	TGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCT
690016552	171828	NM_005211.3(CSF1R):c.2566T>C (p.Tyr856His)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150055325	CTGATCTTGGCCTTTGCAGGGCTGAATCCCTACCCTGGCATCCTGGTGAACAGCAAGTTCT
199422253	47541	NM_001363.4(DKC1):c.1193T>C (p.Leu398Pro)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	not provided	X	154774639	AGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCAC
74315487	31986	NM_001886.2(CRYBA4):c.206T>C (p.Leu69Pro)	CRYBA4	Oct 01, 2006	MedGen:C3808012,OMIM:610425	Cataract 23, multiple types	germline	22	26625528	ATGCTGGCTTCCAAGGGCAGCAGTACATTCTGGAACGAGGCGAATATCCAAGCTGGGATGC
863225304	214559	NM_001134771.1(SLC12A5):c.1277T>C (p.Leu426Pro)	SLC12A5	Sep 03, 2015	MedGen:C4225257,OMIM:616645	Early infantile epileptic encephalopathy 34	germline	20	46043294	TCAGTGATATGACCTCCTACTTCACCCTGCTGGTTGGCATCTACTTCCCCTCAGTCACAGG
28940293	17309	NM_014874.3(MFN2):c.227T>C (p.Leu76Pro)	MFN2	Sep 05, 2017	MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2A2A;not provided	germline	1	11992606	TGGACCCCGTTACCACAGAAGAACAGGTTCTGGACGTCAAAGGTTACCTATCCAAAGTGAG
77173848	15546	NM_000037.3(ANK1):c.-108T>C	ANK1	Jun 01, 1996	MedGen:CN068423	Spherocytosis, type 1, autosomal recessive	germline	8	41797646	CCTCTGGGGCCGATAAGGCCCTCGGGGGCCTGGCCCGCACGTCACAGGCCCCGCAGAGGCT
121434276	18629	NM_000016.5(ACADM):c.730T>C (p.Cys244Arg)	ACADM	Dec 01, 1991	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline	1	75749440	TCTTATTAGGAATTAAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCTTCGAAG
76811038	17939	NM_000419.4(ITGA2B):c.1787T>C (p.Ile596Thr)	ITGA2B	Feb 26, 2013	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005;MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia;Glanzmann thrombasthenia	germline;unknown	17	44379780	AGGCAGACTTCCGGGACAAGCTGAGCCCCATTGTGCTCAGCCTCAATGTGTCCCTACCGCC
1057519515	362301	NM_001003694.1(BRPF1):c.1165T>C (p.Cys389Arg)	BRPF1	Feb 09, 2017	MedGen:C4310617,OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	germline	3	9739564	CCAGCTCGCTGGAAGCTCACCTGCTACATTTGCAAACAACGGGGCTCAGGGGCCTGCATCC
386834180	71401	NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser)	TMEM67	May 18, 2017	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:C2673874,OMIM:615991;MedGen:C1857662,OMIM:216360,Orphanet:ORPHA1454;Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C1853153,OMIM:610688;MedGen:C1853153,OMIM:610688;MedGen:C1846357,OMIM:607361;MedGen:C1846357,OMIM:607361;MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005;MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005;MedGen:C3150796,OMIM:613550	Bardet-Biedl syndrome;Bardet-Biedl syndrome 14;COACH syndrome;Joubert syndrome;Joubert syndrome 6;Joubert syndrome 6;Meckel syndrome type 3;Meckel syndrome type 3;Meckel-Gruber syndrome;Meckel-Gruber syndrome;Nephronophthisis 11	germline;unknown	8	93781725	TAAGAGGAAATTTTCTCAAGTGGCAAACTTTAGAAGGAGGTGTTTTACAGGTAAGCATGAT
606231468	171280	NM_021911.2(GABRB2):c.236T>C (p.Met79Thr)	GABRB2	Jan 22, 2018	MedGen:CN757794,OMIM:617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	germline	5	161545228	CCAGCATCGATATGGTTTCTGAAGTCAATATGGTGAGTATTGACATTTATGACTACTTCTT
760043106	213398	NM_000546.5(TP53):c.584T>C (p.Ile195Thr)	TP53	Jan 16, 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;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:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;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;MedGen:C0280630;MedGen:CN517202	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of stomach;Carcinoma of esophagus;Chronic lymphocytic leukemia;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Li-Fraumeni syndrome;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;Uterine Carcinosarcoma;not provided	germline;somatic	17	7674947	TCTTAGGTCTGGCCCCTCCTCAGCATCTTATCCGAGTGGAAGGAAATTTGCGTGTGGAGTA
121918646	27874	NM_001355437.1(SPTB):c.604T>C (p.Trp202Arg)	SPTB	Aug 01, 1993	MedGen:C2674219,OMIM:616649	Spherocytosis type 2	germline	14	64801797	CATGTTAATGTCACCAACTTTACCTCCAGCTGGAAGGATGGCTTGGCCTTTAATGCCCTGA
769713780	368072	NM_002887.3(RARS):c.2T>C (p.Met1Thr)	RARS	Dec 15, 2016	MedGen:CN517202	not provided	germline	5	168486500	CACTTGGCGAGTGAGACGCTGATGGGAGGATGGACGTACTGGTGTCTGAGTGCTCCGCGCG
118203884	24617	m.4409T>C	MT-TM	Dec 05, 2008	Human Phenotype Ontology:HP:0003737,MedGen:C0162670,OMIM:251900,Orphanet:ORPHA206966	Mitochondrial myopathy	germline	MT	4409	CCACCTATCACACCCCATCCTAAAGTAAGGTCAGCTAAATAAGCTATCGGGCCCATACCCC
786205688	188264	NM_016218.3(POLK):c.*66T>C	POLK	Sep 24, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75598084	CTAGTTATTTTATAATCAATGAATTTGTTCTTTCTGATTTTAAGTTTGCAGATTTATTTAG
193922228	44771	NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr)	FBN1	Jul 04, 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:CN229799;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;MedGen:CN517202;MedGen:CN169374	Acromicric dysplasia;Ectopia lentis, isolated, autosomal dominant;Geleophysic dysplasia 2;MASS syndrome;Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;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;not provided;not specified	germline;unknown	15	48430736	CTGAAAAACAAATGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGG
-1	380155	NM_001024847.2(TGFBR2):c.1456T>C (p.Cys486Arg)	TGFBR2	Mar 01, 2017	MedGen:C2674876,OMIM:610168	Loeys-Dietz syndrome 2	de novo	3	30674231	GCTCTGGTGCTCTGGGAAATGACATCTCGCTGTAATGCAGTGGGAGGTAGGTGTGGACCAG
-1	417151	NM_019098.4(CNGB3):c.2T>C (p.Met1Thr)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86743626	AGAGGGTTTTCAGAACCACCTCAGAGAAGATGTTTAAATCGCTGACAAAAGTCAACAAGGT
794726782	187850	NM_001165963.1(SCN1A):c.1033T>C (p.Cys345Arg)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166047764	AATACTTTCTTTTACCCCACTTGCAGCCAATGTCCAGAGGGATATATGTGTGTGAAAGCTG
786205507	414017	NM_000088.3(COL1A1):c.1002+2T>C	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	17	50196153	ATGGTGCTACTGGTGCTGCCGGGCCCCCTGTGAGTGTGGCCTGTAGGCCTCAGGGCCTGGG
199476133	24681	m.8993T>C	MT-ATP6	May 22, 2017	MedGen:C1838916,OMIM:500010;MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C0751651,Orphanet:ORPHA68380	Ataxia and polyneuropathy, adult-onset;Leigh syndrome;Mitochondrial diseases	germline	MT	8993	CCATCAGCCTACTCATTCAACCAATAGCCCTGGCCGTACGCCTAACCGCTAACATTACTGC
121434284	18601	NM_002225.3(IVD):c.134T>C (p.Leu45Pro)	IVD	Jul 01, 1991	MedGen:CN801076	Isovaleric acidemia, type I	germline	15	40405952	TTTTGCCCGTGGACGATGCAATCAATGGGCTAAGCGAGGAGCAGAGGCAGGTGAGGAGACT
1114167579	419606	NM_000038.5(APC):c.1312+2T>C	APC	Jul 27, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112819346	ACCAGGCATGGACCAGGACAAAAATCCAAGTATGTTCTCTATAGTGTACATCGTAGTGCAT
267607515	77325	NM_002055.4(GFAP):c.1070T>C (p.Leu357Pro)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911293	AGGAGTACCAGGACCTGCTCAATGTCAAGCTGGCCCTGGACATCGAGATCGCCACCTACAG
587777866	152978	NM_000076.2(CDKN1C):c.*5+2T>C	CDKN1C	-	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002	Beckwith-Wiedemann syndrome	not provided	11	2883997	ACCCCGCGCAAGAGGCTGCGGTGAGCCAAGTGAGTACAGCGCACCTGGGGGGGCGCGGAGG
199476104	24727	NC_012920.1:m.14484T>C	MT-ND6	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:CN517202;MedGen:CN169374	Leber's optic atrophy;Leigh syndrome;not provided;not specified	germline	MT	14484	CCATCGCTGTAGTATATCCAAAGACAACCATCATTCCCCCTAAATAAATTAAAAAAACTAT
1131692319	424510	NM_000280.4(PAX6):c.1183+2T>C	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	de novo;maternal	11	31790708	AATGGGCACCTCGGGCACCACTTCAACAGGTGAGCCACTGCTTTCTGCAGGCTGCACAGAG
281860284	39843	NM_018713.2(SLC30A10):c.266T>C (p.Leu89Pro)	SLC30A10	Aug 30, 2012	OMIM:613280	Hypermanganesemia with dystonia 1	germline	1	219928175	TGGTGGGCGCGCTGAGCAACGCGGTCTTCCTCACCGCGCTCTGCTTCACCATCTTCGTGGA
137852430	25278	NM_000132.3(F8):c.1958T>C (p.Val653Ala)	F8	Feb 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154947853	GTTTGCAGTTGTCAGTTTGTTTGCATGAGGTGGCATACTGGTACATTCTAAGCATTGGAGC
104894320	20163	NM_020661.3(AICDA):c.238T>C (p.Trp80Arg)	AICDA	Sep 01, 2000	MedGen:C1720956,OMIM:605258,Orphanet:ORPHA101089	Immunodeficiency with hyper IgM type 2	germline	12	8605404	CTAGACCCTGGCCGCTGCTACCGCGTCACCTGGTTCACCTCCTGGAGCCCCTGCTACGACT
121918734	79489	NM_006920.4(SCN1A):c.272T>C (p.Ile91Thr)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo;germline	2	166058681	TATGTTGTGTTCCTGTCTTACAGACTTTTATAGTATTGAATAAAGGGAAGGCCATCTTCCG
1114167892	420008	NM_004928.2(C21orf2):c.671T>C (p.Leu224Pro)	C21orf2	Jun 23, 2017	MedGen:C1865695,OMIM:602271,Orphanet:ORPHA168549	Spondylometaphyseal dysplasia axial	germline	21	44330298	AGAACGTCCTGACTGCCATCCTGCTGCTGCTGCGGGAGCTGGATGCAGAGGGGCTGGAGGC
111033264	57514	NM_206933.2(USH2A):c.10561T>C (p.Trp3521Arg)	USH2A	Jun 25, 2017	MeSH:D052245,MedGen:C0271097,Orphanet:ORPHA886;MedGen:C1848634,OMIM:276901	Usher syndrome;Usher syndrome, type 2A	germline;unknown	1	215782762	GACAATCTTGAAGATACAATTGTCTTAAACTGGAGAAAACCTATACAATCAAATGGTATTG
730880306	19953	NM_145693.3(LPIN1):c.1441+2T>C	LPIN1	Oct 01, 2008	MedGen:C1849386,OMIM:268200	Myoglobinuria, acute recurrent, autosomal recessive	germline	2	11785078	CCTCAGCGACCACCGGGAGATCACGAAAGGTACCGCGGGCCTCGCGCGGGCGCCCTCTGGT
180177195	186653	NM_000030.2(AGXT):c.302T>C (p.Leu101Pro)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240869306	TCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCG
137852296	25555	NM_000273.2(GPR143):c.397T>C (p.Trp133Arg)	GPR143	Apr 01, 1998	MedGen:C0342684,OMIM:300500,Orphanet:ORPHA54,SNOMED CT:78642008;MedGen:CN517202	Ocular albinism, type I;not provided	germline	X	9759390	ATCCAGCTGTTGTACAGTGCCTGCTTCTGGTGGCTGTTTTGCTATGCAGTGGATGCTTATC
762679102	75585	NM_001290343.1(CERS3):c.43T>C (p.Trp15Arg)	CERS3	Sep 01, 2013	Gene:101202687,MedGen:C3554349,OMIM:615023	Autosomal recessive congenital ichthyosis 9	germline	15	100501807	TTTAAAGAATGGTTCTGGTTGGAAAGATTCTGGCTTCCTCCAACAATAAAGTGGTCAGATC
121908300	19348	NM_001005741.2(GBA):c.751T>C (p.Tyr251His)	GBA	Jun 15, 1993	MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher's disease, type 1	germline	1	155238144	GGAGACATCTACCACCAGACCTGGGCCAGATACTTTGTGAAGTAAGGGATCAGCAAGGATG
137853892	39097	NM_001235.3(SERPINH1):c.233T>C (p.Leu78Pro)	SERPINH1	Mar 12, 2010	MedGen:C3151211,OMIM:613848	Osteogenesis imperfecta type 10	germline	11	75566582	TGGTGTCACCCGTGGTGGTGGCCTCGTCGCTAGGGCTCGTGTCGCTGGGCGGCAAGGCGAC
119103215	16971	NM_020166.4(MCCC1):c.1310T>C (p.Leu437Pro)	MCCC1	Feb 01, 2001	MedGen:CN028786,OMIM:210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	germline	3	183039093	CCGTGCATTATGACCCCATGATTGCGAAGCTGGTCGTGTGGGCAGCAGATCGCCAGGCGGC
387906788	39102	NM_005921.1(MAP3K1):c.566T>C (p.Leu189Pro)	MAP3K1	Dec 10, 2010	MedGen:C3151064,OMIM:613762	46,XY sex reversal, type 6	germline	5	56856683	GTCCAGAGGAACGAATGATCAGGGAGAAACTGAAGGCAACCTGTATGCCAGCCTGGAAGCA
118204013	16685	NM_018105.2(THAP1):c.241T>C (p.Phe81Leu)	THAP1	Mar 01, 2009	MedGen:C1414216,OMIM:602629,Orphanet:ORPHA98806	Dystonia 6, torsion	germline	8	42839212	TTACTGAAAGAGAATGCTGTGCCCACAATATTTCTTTGTACTGAGCCACATGACAAGGTAA
74552543	17888	NM_020184.3(CNNM4):c.971T>C (p.Leu324Pro)	CNNM4	Feb 01, 2009	MedGen:C1857588,OMIM:217080,Orphanet:ORPHA1021	Cone-rod dystrophy amelogenesis imperfecta	germline	2	96761970	TCCCCCTCAGTTTTCCCATTAGCAAGCTCCTGGACTTTTTTCTGGGCCAGGAGATTCGCAC
515726207	136366	NM_003122.4(SPINK1):c.160T>C (p.Tyr54His)	SPINK1	Mar 13, 2014	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Hereditary pancreatitis	germline	5	147828056	GACCCTGTCTGTGGGACTGATGGAAATACTTATCCCAATGAATGCGTGTTATGTTTTGAAA
121908158	19716	NM_001033855.2(DCLRE1C):c.2T>C (p.Met1Thr)	DCLRE1C	Jun 01, 2005	MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006	Histiocytic medullary reticulosis	germline	10	14954009	GGGTCCCGGACTCTGGGATCGGCGGCGCTATGAGTTCTTTCGAGGGGCAGATGGCCGAGTA
28931586	32788	NM_001250.5(CD40):c.247T>C (p.Cys83Arg)	CD40	Dec 23, 2010	MedGen:C1720957,OMIM:606843,Orphanet:ORPHA101090	Immunodeficiency with hyper IgM type 3	germline	20	46122349	AGAGAGACACACTGCCACCAGCACAAATACTGCGACCCCAGTGCGTGCGCTGTTGGGAAAG
267607049	16452	NM_001041.3(SI):c.1022T>C (p.Leu341Pro)	SI	Jul 01, 2000	MedGen:C1283620,OMIM:222900,Orphanet:ORPHA35122,SNOMED CT:360854006,SNOMED CT:78373000	Sucrase-isomaltase deficiency	germline	3	165060026	AAACTAATTACATGCTCATTTACTTTAAGCTTGTTGGACTACCAGCAATGCCAGCATATTG
878853880	242663	NM_000267.3(NF1):c.3046T>C (p.Cys1016Arg)	NF1	Feb 09, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31230315	GTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGA
121912734	32833	NM_001681.3(ATP2A2):c.1678T>C (p.Cys560Arg)	ATP2A2	Sep 01, 1999	MedGen:C0022595,OMIM:124200,Orphanet:ORPHA218,SNOMED CT:48611009	Keratosis follicularis	germline	12	110339638	GAGTGGGGTAGTGGCAGCGACACACTGCGATGCCTGGCCCTGGCCACTCATGACAACCCAC
730882085	181231	NM_000527.4(LDLR):c.589T>C (p.Cys197Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;not applicable	19	11105495	CTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTG
80356689	33901	NM_000083.2(CLCN1):c.857T>C (p.Val286Ala)	CLCN1	Apr 12, 2011	MedGen:C0027127,Orphanet:ORPHA206973	Myotonia congenita	not provided	7	143330775	CCCAACCACACTTCTGTGCCCCTGCAGGAGTGCTATTTAGCATCGAGGTCACCTCCACCTA
118203969	16077	NM_138387.3(G6PC3):c.554T>C (p.Leu185Pro)	G6PC3	Jan 01, 2009	MedGen:C2675526,OMIM:612541,Orphanet:ORPHA331176	Severe congenital neutropenia 4, autosomal recessive	germline	17	44075328	CCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGA
121908439	20603	NM_001040108.1(MLH3):c.3826T>C (p.Trp1276Arg)	MLH3	Sep 07, 2006	MedGen:C1858380,OMIM:614385	Hereditary nonpolyposis colorectal cancer type 7	germline	14	75032069	ACAGTGACAGAGGAACAAAGGAGACTCTTATGGTCAGTACCACCATGAGAATGTGATGTTG
121909367	23693	NM_000163.4(GHR):c.512T>C (p.Ile171Thr)	GHR	Dec 01, 1998	MedGen:C0271568,OMIM:262500,Orphanet:ORPHA633,SNOMED CT:38196001	Laron-type isolated somatotropin defect	germline	5	42699896	ACGTCAGTTTAACTGGGATTCATGCAGATATCCAAGTGAGATGGGAAGCACCACGCAATGC
137852678	24084	NM_007315.3(STAT1):c.1799T>C (p.Leu600Pro)	STAT1	Apr 02, 2013	MedGen:C3151088,OMIM:613796,Orphanet:ORPHA391311	Mycobacterial and viral infections, susceptibility to, autosomal recessive	germline	2	190978930	TGTTGAAGGACCAGCAGCCGGGGACCTTCCTGCTGCGGTTCAGTGAGAGCTCCCGGGAAGG
137854499	24541	NM_005502.3(ABCA1):c.6026T>C (p.Phe2009Ser)	ABCA1	May 21, 2002	MedGen:C1704429,OMIM:604091,Orphanet:ORPHA425,SNOMED CT:15346004	Familial hypoalphalipoproteinemia	germline	9	104788469	AGCTGTTGACTGGGAGAGAACACGTGGAGTTCTTTGCCCTTTTGAGAGGAGTCCCAGAGAA
62636291	20776	NM_201253.2(CRB1):c.3541T>C (p.Cys1181Arg)	CRB1	Jul 01, 2001	MedGen:C1838647,OMIM:600105;MedGen:CN517202	Retinitis pigmentosa 12;not provided	germline	1	197435404	GGGAAACACTGTGAACTCAACATCGATGAATGCTTTTCAAACCCCTGTATCCATGGCAACT
724160002	172125	NM_153818.1(PEX10):c.2T>C (p.Met1Thr)	PEX10	Jan 12, 2015	MedGen:C3553948,OMIM:614871	Peroxisome biogenesis disorder 6B	germline	1	2412501	GCTGCTCGGGACCACCCGAACCCGCGGCCATGGCCCCGGCCGCCGCCAGCCCCCCGGAGGT
775963992	431978	NM_004188.6(GFI1B):c.923T>C (p.Leu308Pro)	GFI1B	Sep 08, 2017	MedGen:C1861194,OMIM:187900	Platelet-type bleeding disorder 17	germline	9	132990980	ACACAGGCTTCAAGCCCTTCAGCTGTGAGCTGTGCACCAAAGGCTTCCAGCGCAAGGTGGA
587777338	132638	NM_021803.3(IL21):c.146T>C (p.Leu49Pro)	IL21	Apr 17, 2014	MedGen:C4014258,OMIM:615767,Orphanet:ORPHA477661	Common variable immunodeficiency 11	germline	4	122620866	TGCGTCAACTTATAGATATTGTTGATCAGCTGAAAAATTATGTGAATGACTTGGTAAGACT
886038209	249259	NM_014728.3(FRMPD4):c.1657T>C (p.Cys553Arg)	FRMPD4	Sep 26, 2016	MedGen:C4310817,OMIM:300983	Mental retardation, X-linked 104	germline	X	12716116	AAGCATAACCTCCTTGGCCCAGATTGGAACTGTATACCCCAAATGACCACCTTTATTGGCG
387906763	39043	NM_007315.3(STAT1):c.520T>C (p.Cys174Arg)	STAT1	Aug 01, 2011	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	germline	2	190999647	GAAGATTTACAAGATGAATATGACTTCAAATGCAAAACCTTGCAGAACAGAGGTAAGGGTT
746091400	245735	NM_000527.4(LDLR):c.691T>C (p.Cys231Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11105597	GACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGG
886040975	262484	NM_001734.3(C1S):c.880T>C (p.Cys294Arg)	C1S	Oct 31, 2016	MedGen:C4310681,OMIM:617174;Gene:791254,MedGen:C0268347,OMIM:130080,Orphanet:ORPHA75392,SNOMED CT:50869007	Ehlers-Danlos syndrome, periodontal type, 2;Ehlers-Danlos syndrome, type 8	germline	12	7066526	TCCCAACTTCTGTTCTTTCAAGCAATGCCCTGCCCTAAGGAAGACACTCCCAATTCTGTTT
587779503	106946	NM_000090.3(COL3A1):c.3093+2T>C (p.Gly1014_Lys1031del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006261	CAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGT
199472805	67675	NM_000218.2(KCNQ1):c.1700T>C (p.Ile567Thr)	KCNQ1	Dec 13, 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	11	2777000	GTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTC
879255581	205709	NM_001830.3(CLCN4):c.662T>C (p.Leu221Pro)	CLCN4	Mar 22, 2016	MedGen:CN232948	CLCN4-related disorder	de novo	X	10206464	TGGTGCTGGTAGTGTCCTCCGGTCTGAGCCTTGGGAAGGAAGGGCCGCTAGTGCACGTGGC
63750599	33192	NM_000021.3(PSEN1):c.254T>C (p.Leu85Pro)	PSEN1	Nov 01, 2004	MedGen:C1843015;MedGen:CN517202	Alzheimer disease, familial, 3, with spastic paraparesis and apraxia;not provided	germline	14	73170963	TGAAATATGGCGCCAAGCATGTGATCATGCTCTTTGTCCCTGTGACTCTCTGCATGGTGGT
121918249	16917	NM_000255.3(MUT):c.313T>C (p.Trp105Arg)	MUT	Sep 30, 2016	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	49459154	CCATATCCTACCATGTATACCTTTAGGCCCTGGACCATCCGCCAGTATGCTGGTTTTAGTA
1064793551	406677	NM_021911.2(GABRB2):c.737T>C (p.Ile246Thr)	GABRB2	Feb 24, 2017	MedGen:CN517202	not provided	germline	5	161334847	TTAAGCTTAAGAGAAACATTGGCTACTTTATCCTGCAAACATACATGCCTTCCATCCTGAT
549543886	426533	NM_002052.4(GATA4):c.*1168T>C	GATA4	Jan 07, 2017	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11759643	AGACGACTGCTAAGACACGGCAGGGGGGCCTGGAGGGAGCCTCCGACTCTGAGCTGCTCCG
1135401729	223314	NM_018297.3(NGLY1):c.730T>C (p.Trp244Arg)	NGLY1	Jan 07, 2016	MedGen:C3808991,OMIM:615273,Orphanet:ORPHA404454	Congenital disorder of deglycosylation	inherited	3	25739728	TTGCACTGGTTTAAGGAAGAATTTTTTCACTGGGTGAATAACGTTTTGTGCAGCAAATGTG
387907012	39743	NM_016097.4(IER3IP1):c.233T>C (p.Leu78Pro)	IER3IP1	Nov 01, 2012	MedGen:C3280240,OMIM:614231,Orphanet:ORPHA306558	Microcephaly, epilepsy, and diabetes syndrome	germline	18	47156193	TAATAGTAAACTCAATTGCAATTGTGTTACTTTTATTATTTGGATGAATATCAGTGGAGAA
202247822	47483	NM_000532.4(PCCB):c.1556T>C (p.Leu519Pro)	PCCB	May 17, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	not provided	3	136329962	CTTCCACACGTGCCCGAATCTGCTGTGACCTGGATGTCTTGGCCAGCAAGAAGGTACAACG
730880485	179889	NM_002294.2(LAMP2):c.864+2T>C	LAMP2	Jun 29, 2016	MedGen:CN517202	not provided	germline	X	120446303	TTAAGTATCTAGACTTTGTCTTTGCTGTGGTGAGTAACAGATTTTTTAAAGTTAGGTTCAT
1057518161	359551	NM_006846.3(SPINK5):c.882+2T>C	SPINK5	Oct 19, 2016	MedGen:CN517202	not provided	germline	5	148095907	AAAAAACTAAAGTTAAAAGAGAAATTGTGGTGAGAATCAGTTTGATCAATCTAGTTACAAC
886041954	264326	NM_003070.4(SMARCA2):c.3650T>C (p.Leu1217Pro)	SMARCA2	Sep 01, 2016	MedGen:CN517202	not provided	germline	9	2116015	AGTCTTCAAGCCACGAGCGGAGGGCATTCCTGCAGGCCATCTTGGAGCATGAGGAGGAAAA
368657015	52458	NM_000260.3(MYO7A):c.5573T>C (p.Leu1858Pro)	MYO7A	Jun 18, 2015	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77205554	ACATCCTCCTGCCCCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCAT
121912533	29445	NM_000233.3(LHCGR):c.1103T>C (p.Leu368Pro)	LHCGR	Dec 01, 2000	MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED CT:237818003	Gonadotropin-independent familial sexual precocity	germline	2	48688694	GCTATGACTTCCTTAGGGTCCTGATTTGGCTGATTAATATTCTAGCCATCATGGGAAACAT
-1	426927	NM_001171.5(ABCC6):c.2501T>C (p.Met834Thr)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16177541	TAGTGCTGGCAAATGGGGCCATCGCAGAGATGGGTTCCTACCAGGAGCTTCTGCAGAGGAA
80358207	20043	NM_153212.2(GJB4):c.409T>C (p.Phe137Leu)	GJB4	Apr 01, 2003	MedGen:CN258420,OMIM:617524	Erythrokeratodermia variabilis et progressiva 2	germline	1	34761663	CTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCT
1064794150	411297	NM_000444.5(PHEX):c.2197T>C (p.Cys733Arg)	PHEX	Sep 08, 2015	MedGen:CN517202	not provided	germline	X	22247900	AACTTTGAAGAATTCCAGAAAGCTTTTAACTGTCCACCCAATTCCACGATGAACAGAGGCA
183589498	152834	NM_001142800.1(EYS):c.9209T>C (p.Ile3070Thr)	EYS	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	6	63720822	TAAATAACAGTCTAATTCTTTCCGAGGATATTGATCCACATAAAAACTTTGTGGCTCTAAA
119103258	17351	NM_005609.3(PYGM):c.2392T>C (p.Trp798Arg)	PYGM	Sep 26, 2016	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009;MedGen:CN517202	Glycogen storage disease, type V;not provided	germline;unknown	11	64746796	CTTCCCTTTGACCTGCAGAACCCAAGAGAGTGGACGCGGATGGTGATCCGGAACATAGCCA
74315405	28440	NM_000311.4(PRNP):c.593T>C (p.Phe198Ser)	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	4699813	CGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCG
312262809	49480	NM_003611.2(OFD1):c.111+2T>C	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006;MedGen:CN517202	Oral-facial-digital syndrome;not provided	germline	X	13735348	AGGATCGGGGTATACTGGATACACTCAAGGTATCGGATTTAGGCGTATCTGTGTCAGCTTT
62641235	26542	NM_003159.2(CDKL5):c.215T>C (p.Ile72Thr)	CDKL5	Apr 26, 2016	MedGen:C1839333,OMIM:300672;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:CN517202	Early infantile epileptic encephalopathy 2;Rett syndrome;not provided	de novo;germline	X	18575423	AAATGCTTCGGACTCTCAAGCAGGAAAACATTGTGGAGTTGAAGGAAGCATTTCGTCGGAG
28934583	27295	NM_003361.3(UMOD):c.649T>C (p.Cys217Arg)	UMOD	Dec 17, 2004	MedGen:C0268113,OMIM:162000,Orphanet:ORPHA209886,SNOMED CT:46785007	Familial juvenile gout	germline	16	20348652	GGCCAGGGCGGTGCGCGCATGGCCGAGACCTGCGTGCCAGTCCTGCGCTGCAACACGGCCG
1060505038	404678	NM_016532.3(INPP5K):c.149T>C (p.Ile50Thr)	INPP5K	Apr 04, 2017	MedGen:CN241833,OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	germline	17	1513875	ACCGGAACCTCAATCTTGACATATATGTTATTGGGTAGGTATCTGCAGGCTCCTTCGCCCA
397514515	48102	NM_183075.2(CYP2U1):c.784T>C (p.Cys262Arg)	CYP2U1	Jan 28, 2013	MedGen:C3539507,OMIM:615030,Orphanet:ORPHA320411	Spastic paraplegia 56, autosomal recessive	germline	4	107945263	CTTGGTTTTATGTCACGAGGCCTAGAAATCTGTCTGAACAGTCAAGTCCTCCTGGTCAACA
281860270	46935	NM_005211.3(CSF1R):c.2297T>C (p.Met766Thr)	CSF1R	Aug 30, 2012	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	not provided	5	150057309	TTCACTTCTCCAGCCAAGTAGCCCAGGGCATGGCCTTCCTCGCTTCCAAGAATGTGAGTAG
1064796344	411373	NM_003688.3(CASK):c.59+2T>C	CASK	Feb 07, 2017	MedGen:CN517202	not provided	germline	X	41922928	GTGTACGAGCTGTGCGAGGTGATCGGAAAGTGAGTCTCCACGCGAGGGAGCGGGAGTGTGG
111033702	36516	NM_000155.3(GALT):c.460T>C (p.Trp154Arg)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647914	GTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCC
121909497	24482	NM_002427.3(MMP13):c.224T>C (p.Phe75Ser)	MMP13	Oct 01, 2005	MedGen:C1865832,OMIM:602111,Orphanet:ORPHA93356	Spondyloepimetaphyseal dysplasia, Missouri type	germline	11	102955390	CTGAGAGGCTCCGAGAAATGCAGTCTTTCTTCGGCTTAGAGGTGACTGGCAAACTTGACGA
121434634	24118	NM_024420.2(PLA2G4A):c.331T>C (p.Ser111Pro)	PLA2G4A	Jun 01, 2008	MedGen:C4016672	Phospholipase a2, group IV a, deficiency of	germline	1	186894164	ACTCTAGGGACAGCAACATTTACTGTATCTTCTATGAAGGTGGGAGAAAAGAAAGAAGTTC
104894329	32868	NM_000486.5(AQP2):c.646T>C (p.Ser216Pro)	AQP2	Apr 01, 1994	MedGen:C4015884	Diabetes insipidus, nephrogenic, autosomal recessive	germline	12	49955438	ATCGGACCCCTGGTGGGCGCCATCCTGGGCTCCCTCCTCTACAACTACGTGCTGTTTCCGC
118204061	16568	NM_000237.2(LPL):c.662T>C (p.Ile221Thr)	LPL	Jun 14, 2016	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19954240	CATTCACCAGAGGGTCCCCTGGTCGAAGCATTGGAATCCAGAAACCAGTTGGGCATGTTGA
1064793731	410334	NM_024422.4(DSC2):c.2250+2T>C	DSC2	Jun 26, 2015	MedGen:CN517202	not provided	germline	18	31070724	ACACAGAAGCTCCTGGAGATGACAAAGTGGTAAGTAGTCTGGCTTTTTAAATAAATACAAA
-1	438533	NM_017807.3(OSGEP):c.332T>C (p.Ile111Thr)	OSGEP	Oct 26, 2017	MedGen:CN570505,OMIM:617729	GALLOWAY-MOWAT SYNDROME 3	germline	14	20452053	ATAAGCCATTGGTGGGTGTGAACCACTGTATAGGCCACATTGAGATGGGCCGCCTCATCAC
137852772	23773	NM_000182.4(HADHA):c.1025T>C (p.Leu342Pro)	HADHA	Nov 10, 2010	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Mitochondrial trifunctional protein deficiency	germline	2	26209840	TGACCAAAGAATCAAAGGCCTTGATGGGACTCTACCATGGTCAGGTCCTGTGCAAGAAGAA
180177264	200547	NM_000030.2(AGXT):c.757T>C (p.Cys253Arg)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240875185	GACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGG
72653785	426961	NM_001171.5(ABCC6):c.2177T>C (p.Leu726Pro)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182482	AGCTGGACCCACCCTGGCTGGAGAGAGTACTAGAAGCCTGTGCCCTGCAGCCAGATGTGGA
794726793	187877	NM_001165963.1(SCN1A):c.323T>C (p.Leu108Pro)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166058630	CCATCTTCCGGTTCAGTGCCACCTCTGCCCTGTACATTTTAACTCCCTTCAATCCTCTTAG
137853584	28680	NM_000175.4(GPI):c.1574T>C (p.Ile525Thr)	GPI	Mar 01, 1993	MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	germline	19	34399933	TGGAGCTGGGAAAGCAGCTGGCTAAGAAAATAGAGCCTGAGCTTGATGGCAGTGCTCAAGT
1057517991	360366	NM_005912.2(MC4R):c.811T>C (p.Cys271Arg)	MC4R	Oct 26, 2016	MedGen:CN517202	not provided	germline	18	60371539	TTCTTCCTCCACTTAATATTCTACATCTCTTGTCCTCAGAATCCATATTGTGTGTGCTTCA
121909572	33082	NM_000488.3(SERPINC1):c.667T>C (p.Ser223Pro)	SERPINC1	Nov 01, 2001	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173910849	CAATCCAGAGCGGCCATCAACAAATGGGTGTCCAATAAGACCGAAGGCCGAATCACCGATG
-1	432169	NM_000444.5(PHEX):c.1700+2T>C	PHEX	Apr 14, 2015	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22212960	CCTTTCTTTTGGGGAACAGAATATCCTCGGTGAGTAAATGAGTACAGAAACCAGTTACTGA
876657406	199850	NM_013254.3(TBK1):c.2138+2T>C	TBK1	May 01, 2015	MedGen:C4225325,OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	germline	12	64498041	CTTGCTGAAAATAACCACATTTTAGAAAGGTGAGTAATGCAAAAATAATTACTGTGATTTT
1057519340	362085	NM_015692.3(CPAMD8):c.4351T>C (p.Ser1451Pro)	CPAMD8	Jan 27, 2017	MedGen:C4310622,OMIM:617319	Anterior segment dysgenesis 8	germline	19	16904267	GCTGCCGCCCTGCCTGTGGTGAAGTGGCTGTCCCAGCAGCGAAATGCACTTGGGGGCTTCT
104894463	29083	NM_006177.4(NRL):c.479T>C (p.Leu160Pro)	NRL	Jun 01, 2007	MedGen:C1834330	Retinal degeneration, autosomal recessive, clumped pigment type	germline	14	24081471	GGGGCTGCGGGCGCGACGAGGCGCTGCGGCTGAAGCAGAGGCGCCGCACGCTGAAGAACCG
121434218	18067	NM_000051.3(ATM):c.7967T>C (p.Leu2656Pro)	ATM	Jan 13, 1998	MedGen:C4017102	Ataxia-telangiectasia without immunodeficiency	germline	11	108333925	ATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTAC
398123223	98477	NM_000169.2(GLA):c.899T>C (p.Leu300Pro)	GLA	Mar 08, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398470	TGGCTGCTCCTTTATTCATGTCTAATGACCTCCGACACATCAGCCCTCAAGCCAAAGCTCT
104894504	27496	NM_001018005.1(TPM1):c.284T>C (p.Val95Ala)	TPM1	Oct 06, 2014	MedGen:C1861863,OMIM:115196;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 3;Primary familial hypertrophic cardiomyopathy;not provided	germline	15	63057028	TAGCTTCTCTGAACAGACGCATCCAGCTGGTTGAGGAAGAGTTGGATCGTGCCCAGGAGCG
869312988	226854	NM_000048.3(ASL):c.461T>C (p.Leu154Pro)	ASL	-	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	germline	7	66086599	TCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGC
797044547	181289	NM_001199107.1(TBC1D24):c.313T>C (p.Cys105Arg)	TBC1D24	Dec 22, 2014	MedGen:C1857345,OMIM:220500	Digitorenocerebral syndrome	germline	16	2496461	TTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGC
606231149	19939	NM_022458.3(LMBR1):c.423+4842T>C	LMBR1	Jul 15, 2003	MedGen:C1868114,OMIM:174500,Orphanet:ORPHA93336;MedGen:C0241397,SNOMED CT:205308004	Polydactyly, preaxial II;Triphalangeal thumb	germline	7	156791547	GGAGGAACAAAGATTTTTTTAATATGTTTCTATCCTGTGTCACAGTTTGAAATTGTCCTGG
104894143	16836	NM_000102.3(CYP17A1):c.1216T>C (p.Trp406Arg)	CYP17A1	Jan 01, 2004	MedGen:CN042980	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency	germline	10	102831535	CTGTGGGCGCTGCATCACAATGAGAAGGAGTGGCACCAGCCGGATCAGTTCATGCCTGGTG
1085307312	414259	NM_001204.6(BMPR2):c.1202T>C (p.Leu401Ser)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532658	CTGTGAACTTGAGGGACTGTGAATCAGCTTTGAAACAAGTAGACATGTATGCTCTTGGACT
199476132	24661	m.5728T>C	MT-TN	Aug 01, 2006	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000;MedGen:C1838979,OMIM:252010	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;Mitochondrial complex I deficiency	germline	MT	5728	GCTAAGCACCCTAATCAACTGGCTTCAATCTACTTCTCCCGCCGCCGGGAAAAAAGGCGGG
61750562	105227	NM_000350.2(ABCA4):c.5018+2T>C	ABCA4	Dec 31, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline;unknown	1	94021238	ACCAAGGAGCAGCTCTCAGAGATTACAGTGTAAGCCACCACAGCCCCAGCCTCACCACTTT
128621198	26412	NM_000061.2(BTK):c.1223T>C (p.Leu408Pro)	BTK	Oct 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101356910	ATCCAAAGGACCTGACCTTCTTGAAGGAGCTGGGGACTGGACAATTTGGGGTAGTGAAGTA
879254456	245454	NM_000527.4(LDLR):c.283T>C (p.Cys95Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102756	CAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTC
575112817	22737	NM_003865.2(HESX1):c.357+2T>C	HESX1	Nov 01, 2006	MedGen:C2750026	Pituitary hormone deficiency, combined 5	germline	3	57198751	GACCAAGAACTGCTTTTACTCAAAACCAGGTGGGAAGTTTTTTCACCCAATAATGATAATA
-1	17876	NM_000019.3(ACAT1):c.1163+2T>C	ACAT1	Jan 01, 1993	MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007	Deficiency of acetyl-CoA acetyltransferase	germline	11	108146361	GGAGCTGTTTCTCTGGGACATCCAATTGGGTAGGTAAAAATAATAACTATATCTAGGTTAA
137854226	58317	NM_000548.4(TSC2):c.138+2T>C	TSC2	Feb 28, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2048755	AGTTTATCATCACCGCGGAAATACTGAGAGTGAGTGAGCTACCTGTGTCTTTGCTAGGCTA
121908656	21341	NM_003839.3(TNFRSF11A):c.523T>C (p.Cys175Arg)	TNFRSF11A	Jul 01, 2008	MedGen:C2676766,OMIM:612301,Orphanet:ORPHA178389	Osteopetrosis autosomal recessive 7	germline	18	62359956	AAAGCACTGAACCACCTTTTCCCCCACAGCTGTACCTTCCTTGGAAAGAGAGTAGAACATC
201060167	244678	NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro)	IGHMBP2	Aug 10, 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	68929204	TTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGT
397514408	36405	NM_000060.4(BTD):c.1252T>C (p.Cys418Arg)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645108	GTCTGGGGAAAGGAAGGCTATCTCCACGTCTGTTCCAATGGCCTCTGCTGTTATTTACTTT
387906695	38865	NM_002734.4(PRKAR1A):c.980T>C (p.Ile327Thr)	PRKAR1A	Apr 06, 2012	MedGen:C3276228,OMIM:101800	Acrodysostosis 1 with or without hormone resistance	germline	17	68530283	GTTACCCATCTTTGCTTTCTCCAGGTGAAATTGCACTACTGATGAATCGTCCTCGTGCTGC
878853780	239176	NM_000249.3(MLH1):c.1667+2T>C	MLH1	Dec 28, 2015	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37040296	TTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGC
1135401754	424613	NM_000487.5(ARSA):c.98T>C (p.Leu33Pro)	ARSA	May 01, 2017	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	unknown	22	50627682	CCAACATCGTGCTGATCTTTGCCGACGACCTCGGCTATGGGGACCTGGGCTGCTATGGGCA
863223377	205490	NM_001083961.1(WDR62):c.2030T>C (p.Leu677Pro)	WDR62	Oct 31, 2014	Human Phenotype Ontology:HP:0002269,MedGen:C1837249	Abnormality of neuronal migration	maternal	19	36090516	AGGGCTCCCAGGGTGACGAAGGGTCCTTGCTGAAGGTGAGGAGTTGGAGACCCCTGTCTGT
786204027	185768	NM_005957.4(MTHFR):c.1530+2T>C	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11793905	GCCCCAGCGGGGGCTATGTCTTCCAGAAGGTGTGGTAGGGAGGCACGGGGTGCCCCCCTCT
200913791	76936	NM_015896.3(ZMYND10):c.797T>C (p.Leu266Pro)	ZMYND10	May 02, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C3809543,OMIM:615444;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia;Ciliary dyskinesia, primary, 22;Kartagener syndrome	germline	3	50342473	GCAAGTTGGACGGGCAAGTGTGGATCGCCCTGTACAACCTGCTGCTAAGCCCTGAGGCTCA
104894588	20908	NM_004870.3(MPDU1):c.2T>C (p.Met1Thr)	MPDU1	Dec 01, 2001	MedGen:C1836669,OMIM:609180,Orphanet:ORPHA79323	Congenital disorder of glycosylation type 1F	germline	17	7583864	GAGAGACTGGCGGAAGCTAGCTTTGCAATATGGCGGCCGAGGCGGACGGACCGCTTAAACG
72554315	103007	NM_000531.5(OTC):c.143T>C (p.Phe48Ser)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367356	AGGGCCGTGACCTTCTCACTCTAAAAAACTTTACCGGAGAAGAAATTAAATATATGCTATG
104893698	23366	NM_000388.3(CASR):c.1835T>C (p.Phe612Ser)	CASR	Oct 10, 1996	MedGen:C0342345,OMIM:601198	Hypocalcemia, autosomal dominant 1	germline	3	122283789	AGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCCGTGCT
1064793295	407109	NM_005431.1(XRCC2):c.2T>C (p.Met1Thr)	XRCC2	Feb 12, 2015	MedGen:CN517202	not provided	germline	7	152676078	AGTCTCTCCTGCGCCGAGCCTTCGGGGCGATGTGTAGTGCCTTCCATAGGGCTGAGTCTGG
-1	468281	NM_000419.4(ITGA2B):c.2094+2T>C	ITGA2B	Jul 18, 2017	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	44378360	ACTACATGCGGGCCCTAAGCAATGTCGAGGTATGGCCCCCACCCTGGGAACAGTACCCGGG
281874745	36097	NM_000495.4(COL4A5):c.4690T>C (p.Cys1564Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108694808	TTATGTTCCTTCTCCTTTTCCTTTACCAGATGTGCAGTATGTGAAGCTCCAGCTGTGGTGA
121909565	33071	NM_000488.3(SERPINC1):c.1141T>C (p.Ser381Pro)	SERPINC1	Mar 01, 1992	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173909564	GGCCTTGTCGATCTGTTCAGCCCTGAAAAGTCCAAACTCCCAGGTTTGTCTAGGAAGGAGT
369586696	39937	NM_000035.3(ALDOB):c.1027T>C (p.Tyr343His)	ALDOB	Dec 01, 2010	Human Phenotype Ontology:HP:0005973,MedGen:C0016751,OMIM:229600,Orphanet:ORPHA469,SNOMED CT:20052008	Hereditary fructosuria	germline	9	101421877	TAGGCTAACTGCCAGGCGGCCAAAGGACAGTATGTTCACACGGGTTCTTCTGGGGCTGCTT
397517153	49150	NM_005633.3(SOS1):c.1649T>C (p.Leu550Pro)	SOS1	Jul 01, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	2	39022779	CATTGATATCTTTACAGTACCGGAGTACACTGGAAAGGATGCTTGATGTAACAATGCTACA
199476134	24682	m.9101T>C	MT-ATP6	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	9101	CAACCATTAACCTTCCCTCTACACTTATCATCTTCACAATTCTAATTCTACTGACTATCCT
786205107	32856	NM_031226.2(CYP19A1):c.743+2T>C	CYP19A1	Sep 01, 1992	MedGen:C0878680,OMIM:613546,Orphanet:ORPHA91	Aromatase deficiency	germline	15	51218539	TGGCTATACAAAAAGTATGAGAAGTCTGTGTAAGTAATACAACTTTGGAAGATTTATGAGT
-1	432128	NM_000444.5(PHEX):c.253T>C (p.Cys85Arg)	PHEX	Oct 28, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22047115	GATCCTTGTGATAATTTCTTCCGGTTCGCTTGTGATGGCTGGATAAGCAATAATCCAATTC
137852817	26572	NM_003688.3(CASK):c.802T>C (p.Tyr268His)	CASK	May 01, 2009	MedGen:C1845546,OMIM:300422	FG syndrome 4	germline	X	41660468	ATGCTGGATCCAGCTGAAAGGATCACTGTTTATGAAGCACTGAATCACCCATGGCTTAAGG
57749775	29670	NM_002273.3(KRT8):c.160T>C (p.Tyr54His)	KRT8	May 24, 2001	MedGen:C0267809;MedGen:CN517202	Cirrhosis, cryptogenic;not provided	germline	12	52904822	AGCAACTTTCGCGGTGGCCTGGGCGGCGGCTATGGTGGGGCCAGCGGCATGGGAGGCATCA
886039374	259815	NM_021911.2(GABRB2):c.845T>C (p.Val282Ala)	GABRB2	Aug 18, 2017	MedGen:CN517202	not provided	germline	5	161331115	TCTCCCATTTTTTTTCAGGAATCACAACTGTCCTCACAATGACCACAATCAACACCCACCT
200911567	165637	NC_012920.1:m.11984T>C	MT-ND4	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	germline	MT	11984	AACATACTAGTCACAGCCCTATACTCCCTCTACATATTTACCACAACACAATGGGGCTCAC
1057517676	359123	NM_001142443.2(EDC3):c.161T>C (p.Phe54Ser)	EDC3	Jul 10, 2015	MedGen:C4225319,OMIM:616460	Mental retardation, autosomal recessive 50	germline	15	74674964	GAGTGAAGTGTCTTGTTCCAGAAGTCACCTTCAGGTGAGTGTCCTGACTGACTCTTCTGAA
80358264	34310	NM_006432.3(NPC2):c.295T>C (p.Cys99Arg)	NPC2	Jul 22, 2008	MedGen:C1843366,OMIM:607625	Niemann-Pick disease type C2	not provided	14	74484483	GAGCCTGATGGTTGTAAGAGTGGAATTAACTGCCCTATCCAAAAAGACAAGACCTATAGCT
1064796861	405653	NM_004238.2(TRIP12):c.4770+2T>C	TRIP12	Mar 16, 2017	MedGen:CN517202	not provided	germline	2	229787503	GAGTTGCACCTAGATTGGATAGAAAAAAAGTAAGTTTCTCCCCAAAATCTTTAAATAATCT
387907170	40285	NM_004453.3(ETFDH):c.1130T>C (p.Leu377Pro)	ETFDH	Oct 24, 2017	MedGen:C4016438;MedGen:C0268596,OMIM:231680,Orphanet:ORPHA26791,SNOMED CT:22886006;MeSH:D030342,MedGen:C0950123	Glutaric acidemia iic, late-onset;Glutaric aciduria, type 2;Inborn genetic diseases	germline	4	158703436	AATCTTTGTTTCCTCAGTCTATACCAAAACTCACCTTTCCTGGTGGTTTACTAATTGGTTG
587783580	169861	NM_178151.2(DCX):c.683T>C (p.Leu228Pro)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401012	TCAAACTGGAGACCGGGGTTGTCAAAAAACTCTACACTCTGGATGGAAAACAGGTAGGTAC
80358152	69847	NM_007294.3(BRCA1):c.4357+2T>C	BRCA1	May 05, 2008	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43082402	AAATCCAGAACAAAGCACATCAGAAAAAGGTGTGTATTGTTGGCCAAACACTGATATCTTA
886039569	260060	NM_000153.3(GALC):c.749T>C (p.Ile250Thr)	GALC	May 04, 2016	MedGen:CN517202	not provided	germline	14	87976361	ATGCCGAACTCTTCAAGGTGGTTGATGTTATAGGGTAAGGCATGTTTTACTTGGAAAACTA
121909385	23634	NM_000339.2(SLC12A3):c.1868T>C (p.Leu623Pro)	SLC12A3	Dec 01, 1996	MedGen:C0268450,OMIM:263800,Orphanet:ORPHA358,SNOMED CT:3188003	Familial hypokalemia-hypomagnesemia	germline	16	56885307	GCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGA
118192127	76866	NM_000540.2(RYR1):c.10817T>C (p.Leu3606Pro)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38527777	TCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTT
781760379	273887	NM_000231.2(SGCG):c.158T>C (p.Leu53Pro)	SGCG	Aug 18, 2016	MedGen:C0410173,OMIM:253700,Orphanet:ORPHA353,SNOMED CT:240056002	Severe autosomal recessive muscular dystrophy of childhood - North African type	germline	13	23203852	TACTCATCATCCTCGTTGTGAATTTAGCTCTTACAATTTGGATTCTTAAAGTGATGTGGTT
121917706	28880	NM_005247.2(FGF3):c.17T>C (p.Leu6Pro)	FGF3	Sep 20, 2012	MedGen:C1853144,OMIM:610706,Orphanet:ORPHA90024	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	germline	11	69818917	GGCGCGATGCCACGATGGGCCTAATCTGGCTGCTACTGCTCAGCCTGCTGGAGCCCGGCTG
121918627	27931	NM_006920.4(SCN1A):c.4250T>C (p.Val1417Ala)	SCN1A	Aug 28, 2001	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	166002473	TAGGATTTGGGTATCTCTCTTTGCTTCAAGTTGTAAGTGAACACTATTTTCTCTGAATATT
104894548	17645	NM_001128085.1(ASPA):c.454T>C (p.Cys152Arg)	ASPA	Jan 01, 1995	MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005	Spongy degeneration of central nervous system	germline	17	3483520	TTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCC
121964953	27065	NM_004453.3(ETFDH):c.2T>C (p.Met1Thr)	ETFDH	May 25, 2012	MedGen:C3278156	Glutaric acidemia IIC	germline	4	158672458	TCCGACCGAGAGTCCTGGTGACTTTGAACATGCTGGTGCCGCTAGCCAAGCTGTCCTGCCT
137852375	25187	NM_000132.3(F8):c.5372T>C (p.Met1791Thr)	F8	May 01, 1992	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154906421	ATATAAGAGCAGAAGTTGAAGATAATATCATGGTGAGTTAAGGACAGTGGAATTACAAGAA
138504221	39416	NM_000199.3(SGSH):c.892T>C (p.Ser298Pro)	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	80212128	CCGGGCACTGCTGAACCCTTACTGGTGTCATCCCCGGAGCACCCAAAACGCTGGGGCCAAG
74315493	18325	NM_000268.3(NF2):c.1604T>C (p.Leu535Pro)	NF2	Jun 01, 1995	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29681468	GAGTGGAATACATGGAAAAGAGCAAGCATCTGCAGGAGCAGCTCAATGAACTCAAGACAGA
201893545	18589	NM_016247.3(IMPG2):c.370T>C (p.Phe124Leu)	IMPG2	Dec 01, 2014	MedGen:C4015343,OMIM:616152	Macular dystrophy, vitelliform, 5	germline	3	101304277	CAGGAAGCTGTCTGGGAAGCCTTCAGGACTTTTTGGGATCGACTTCCTGGGCGTGAGGAAT
886044721	237707	NM_000350.2(ABCA4):c.160+2T>C	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline;unknown	1	94112971	TGCCAACCCACTCTACAGCCATCATGAATGTAAGCATAGCAGGGTAGCTTGGGCAAGCCCT
121912537	29426	NM_000233.3(LHCGR):c.1627T>C (p.Cys543Arg)	LHCGR	Jun 01, 2002	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008	Leydig cell agenesis	germline	2	48688170	ATTCTCAATGTGGTGGCCTTCTTCATAATTTGTGCTTGCTACATTAAAATTTATTTTGCAG
72556259	103087	NM_000531.5(OTC):c.416T>C (p.Leu139Ser)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401304	GTGTATTGTCTAGCATGGCAGATGCAGTATTGGCTCGAGTGTATAAACAATCAGATTTGGA
878853276	237803	NM_001183.5(ATP6AP1):c.431T>C (p.Leu144Pro)	ATP6AP1	Feb 13, 2017	MedGen:C3151226,OMIM:613860,Orphanet:ORPHA331190	Immunodeficiency due to ficolin 3 deficiency	germline	X	154432333	CTGCCGTCGACTGGTATGCAGTCAGCACTCTGACCACTTACCTGCAGGAGAAGCTCGGGGC
-1	428921	NM_000118.3(ENG):c.662T>C (p.Leu221Pro)	ENG	Apr 15, 2017	MedGen:CN034812	Hereditary hemorrhagic telangiectasia type 1	germline	9	127825722	GCGTGGCCGGCCACAAGGAGGCGCACATCCTGAGGGTCCTGCCGGGCCACTCGGCCGGGTA
267607211	18695	NM_000229.1(LCAT):c.508T>C (p.Trp170Arg)	LCAT	Jul 01, 1990	MedGen:C0023195,OMIM:245900,Orphanet:ORPHA650	Norum disease	germline	16	67942686	GACGAGACTGTGCGCGCCGCCCCCTATGACTGGCGGCTGGAGCCCGGTGAGTGTCTCTGCG
137852534	24989	NM_000291.3(PGK1):c.758T>C (p.Ile253Thr)	PGK1	Jun 01, 2006	MedGen:C1970848,OMIM:300653,Orphanet:ORPHA713	Phosphoglycerate kinase 1 deficiency	germline	X	78123196	ACCTCCATCATTTTGGCTCCCCTGTGTAGATTGGCACTTCTCTGTTTGATGAAGAGGGAGC
-1	362595	NM_182548.3(LHFPL5):c.575T>C (p.Leu192Pro)	LHFPL5	Feb 12, 2017	MedGen:CN206293,Orphanet:ORPHA88616;MedGen:C1853223,OMIM:610265	Autosomal recessive non-syndromic intellectual disability;Deafness, autosomal recessive 67	germline	6	35814708	CCATCCTCAGCATTGGCGACGCCCTCATCCTCTCCTTCCTGGCCTTCGTGTTGGGCTACCG
80358131	97024	NM_007294.3(BRCA1):c.134+2T>C	BRCA1	Jan 31, 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	43115724	TCCACAAAGTGTGACCACATATTTTGCAAGTAAGTTTGAATGTGTTATGTGGCTCCATTAT
690016549	171836	NM_005211.3(CSF1R):c.2450T>C (p.Leu817Pro)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150056130	ATAACTGGGGACTGTCATCCCAGGCCCGCCTGCCTGTGAAGTGGATGGCCCCAGAGAGCAT
-1	426878	NM_001171.5(ABCC6):c.3370T>C (p.Cys1124Arg)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16163129	CGCTTGGAGTCAGCCAGCTACTCGTCTGTCTGCTCCCACATGGCTGAGACGTTCCAGGGCA
28935488	25770	NM_000169.2(GLA):c.806T>C (p.Val269Ala)	GLA	Jul 01, 1993	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398563	TTGAATTATTTCATTCTTTTTCTCAGTTAGTGATTGGCAACTTTGGCCTCAGCTGGAATCA
587777586	152010	NM_002880.3(RAF1):c.1808T>C (p.Leu603Pro)	RAF1	Jun 01, 2014	MedGen:C4014656,OMIM:615916	Cardiomyopathy, dilated, 1NN	germline	3	12584653	GAGAGCATTCTTGGGCTTTGTTTCAGATCCTGTCTTCCATTGAGCTGCTCCAACACTCTCT
878852981	236888	NM_018946.3(NANS):c.562T>C (p.Tyr188His)	NANS	Jun 20, 2017	MedGen:C1864872,OMIM:610442,Orphanet:ORPHA168454	Spondyloepimetaphyseal dysplasia Genevieve type	germline	9	98078306	AACTTCTGCTTCTTGCAGTGTACCAGCGCATACCCGCTCCAGCCTGAGGACGTCAACCTGC
397515552	76588	NM_004595.4(SMS):c.449T>C (p.Ile150Thr)	SMS	Jun 27, 2013	MedGen:C0796160,OMIM:309583,Orphanet:ORPHA3063	Snyder Robinson syndrome	not provided	X	21977180	TATATGACGAAGATTCACCTTATCAAAATATAAAAATTCTACACTCGAAGCAGTTTGGAAA
121908093	19311	NM_005857.4(ZMPSTE24):c.1018T>C (p.Trp340Arg)	ZMPSTE24	Aug 15, 2003	MedGen:C1837756,OMIM:608612,Orphanet:ORPHA90154;MedGen:CN517202	Mandibuloacral dysplasia with type B lipodystrophy;not provided	germline	1	40285988	CTCGCTGTACTAGGCCATGAACTGGGGCACTGGAAGTTGGGACATACAGTCAAAAATATCA
1085307113	404624	NM_004958.3(MTOR):c.7280T>C (p.Leu2427Pro)	MTOR	Apr 11, 2017	MedGen:C1846385,OMIM:607341,Orphanet:ORPHA268994	Focal cortical dysplasia type II	somatic	1	11114338	TGCTGGAAGCCTTTGTCTATGACCCCTTGCTGAACTGGAGGCTGATGGACAGTGAGTATCA
267606679	17790	NM_004183.3(BEST1):c.704T>C (p.Val235Ala)	BEST1	Sep 01, 2009	MedGen:C1860406,OMIM:193220,Orphanet:ORPHA3086	Vitreoretinochoroidopathy	germline	11	61957454	ATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAG
200145866	76417	m.11253T>C	MT-ND4	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	not provided	MT	11253	TAGGCTCCCTTCCCCTACTCATCGCACTAATTTACACTCACAACACCCTAGGCTCACTAAA
121913587	29211	NM_000530.7(MPZ):c.404T>C (p.Ile135Thr)	MPZ	Jan 06, 2017	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003;MedGen:CN517202	Charcot-Marie-Tooth disease, demyelinating, type 1b;not provided	germline	1	161306752	TCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTA
28933690	24807	NM_021083.3(XK):c.880T>C (p.Cys294Arg)	XK	Dec 01, 2001	MedGen:C0398568,OMIM:300842,Orphanet:ORPHA59306	McLeod neuroacanthocytosis syndrome	germline	X	37728007	ACTTTACTCTATACTGGTATCAACATGTTCTGCTGGTCTGCTGTACAGCTGAAAATTGACA
397514651	48685	NM_000108.4(DLD):c.140T>C (p.Ile47Thr)	DLD	Jul 15, 2006	MedGen:CN043137,OMIM:246900	Maple syrup urine disease, type 3	germline	7	107901759	TTATCGTAGTTGATGCTGATGTAACAGTTATAGGTTCTGGTCCTGGAGGATATGTTGCTGC
104894010	31177	NM_000162.3(GCK):c.391T>C (p.Ser131Pro)	GCK	Jun 01, 1993	MedGen:C1841962,OMIM:125851	Maturity-onset diabetes of the young,  type 2	germline	7	44151048	CAGCTCTTCGACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCATCAGATGAAAC
121909100	22306	NM_005603.4(ATP8B1):c.1982T>C (p.Ile661Thr)	ATP8B1	Oct 29, 2016	MedGen:C1855731,OMIM:243300,Orphanet:ORPHA99960;MedGen:C0268312,OMIM:211600,Orphanet:ORPHA172,SNOMED CT:74162007	Cholestasis, benign recurrent intrahepatic 1;Progressive intrahepatic cholestasis	germline	18	57669433	TTAGAACCCTATGCCTTTGCTACAAGGAAATTGAAGAAAAAGAATTTACAGAATGGAATAA
587779826	132814	NM_000051.3(ATM):c.2638+2T>C	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	11	108267344	CGAACCTGGAGAGAGCCAAAGTACCATAGGTAAATACATATTTACTACTTGGGATTTCTTT
-1	481378	NM_153717.2(EVC):c.2894+3A>G	EVC	Dec 09, 2017	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005	Chondroectodermal dysplasia	paternal	4	5810453	CCGGGGACCAGACCTCAGGCTCACTCAGGTATGACTGGGCCCCGGACCTGTTGCCTGTGGC
58982919	49660	NM_006158.4(NEFL):c.293A>G (p.Asn98Ser)	NEFL	Mar 06, 2018	MedGen:CN847583,OMIM:617882;MedGen:C1843225,OMIM:607684,Orphanet:ORPHA99939;MedGen:C1843164,OMIM:607734,Orphanet:ORPHA101085;MedGen:CN517202	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G;Charcot-Marie-Tooth disease type 2E;Charcot-Marie-Tooth disease, demyelinating, type 1f;not provided	germline	8	24956223	CGCAGGAGAAGGCGCAGCTCCAGGACCTCAATGACCGCTTCGCCAGCTTCATCGAGCGCGT
398123211	98462	NM_000169.2(GLA):c.548-2A>G	GLA	Nov 01, 2012	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101400759	TCCCTTATTTTACCCATTGTTTTCTCATACAGGTTATAAGCACATGTCCTTGGCCCTGAAT
770842408	404696	NM_001440.3(EXTL3):c.1970A>G (p.Asn657Ser)	EXTL3	Apr 05, 2017	MedGen:CN241841,OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	germline	8	28718029	GCAAGGAATTTCAGGCAGCGCTTGGAGGCAATGTTCCCCGAGAGCAGTTCACGGTGGTGAT
72558405	103156	NM_000531.5(OTC):c.595A>G (p.Asn199Asp)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403672	CTTACCCTCAGCTGGATCGGGGATGGGAACAATATCCTGCACTCCATCATGATGAGCGCAG
81002863	66890	NM_000059.3(BRCA2):c.6938-2A>G	BRCA2	May 24, 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	32346825	CTAATATGTAATATAAAATAATTGTTTCCTAGGCACAATAAAAGATCGAAGATTGTTTATG
121965046	15199	NM_000274.3(OAT):c.734A>G (p.Tyr245Cys)	OAT	Feb 15, 1992	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124403835	AAGCAGGCGTTGTTGTTCCGGATCCAGGTTACCTAATGGGAGTGCGAGAGCTCTGCACCAG
267607174	15060	NM_001006657.1(WDR35):c.1877A>G (p.Glu626Gly)	WDR35	Sep 12, 2013	MedGen:C3150874,OMIM:613610	Cranioectodermal dysplasia 2	germline	2	19945787	GAATGTATGTTTTCAGAAACTTGGATCCTGAGGTAAAAACAAGAAATGAGTGTTAACAGTC
-1	439842	NM_001136191.2(KANK2):c.541A>G (p.Ser181Gly)	KANK2	Nov 27, 2017	MedGen:CN651336,OMIM:617783	NEPHROTIC SYNDROME 16	germline	19	11193539	AGTTCAGGACTGTCCACACCGGTGCCTCCCAGTGCCGGGCACCTGGCCCACGTGCGGGAGC
769547477	438666	NM_004629.1(FANCG):c.1077-2A>G	FANCG	May 31, 2017	MedGen:CN517202	not provided	germline	9	35076030	TAGGGTGAGGCTTATGGGCTTTTACTCCTCAGGGCAGGAGACGCTGCAGAGCATTACTTGG
121908847	21586	NM_003722.4(TP63):c.1054A>G (p.Arg352Gly)	TP63	Aug 06, 2015	MedGen:C1863204,OMIM:103285,Orphanet:ORPHA978;MedGen:C1851878	ADULT syndrome;Orofacial cleft 8	germline	3	189868641	GCCCGGATCTGTGCTTGCCCAGGAAGAGACAGGAAGGCGGATGAAGATAGCATCAGAAAGC
-1	463899	NM_000321.2(RB1):c.1333-2A>G	RB1	Mar 21, 2017	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	germline	13	48379592	AGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTA
879255232	59541	NM_001256240.1(PGAP2):c.296A>G (p.Tyr99Cys)	PGAP2	Apr 04, 2013	Gene:100689013,MedGen:C3280153,OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	germline	11	3824013	TCTTGGTGGCCTTCGCCTACTGGAACCACTACCTCAGCTGCACCTCCCCGTGTTCCTGCTA
587777055	77010	NM_020988.2(GNAO1):c.521A>G (p.Asp174Gly)	GNAO1	Sep 05, 2013	MedGen:C3809606,OMIM:615473	Early infantile epileptic encephalopathy 17	unknown	16	56334785	GGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGG
587777594	152760	NM_025150.4(TARS2):c.695+3A>G	TARS2	Aug 01, 2014	MedGen:C4014668,OMIM:615918,Orphanet:ORPHA420733	Combined oxidative phosphorylation deficiency 21	germline	1	150491665	TGACAGGTCCAACAGCAACAGTATATGGGTAAGAGTTGTCAAGATTAAGGCAAACAGAGAG
397517172	49121	NM_005633.3(SOS1):c.508A>G (p.Lys170Glu)	SOS1	Jul 19, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	2	39056704	CAAGATATTAAAGTGGCAATGTGTGCTGACAAGGTAGGAAACTGAGCTTTTCTATTTTTTT
63750211	95732	NM_000249.3(MLH1):c.544A>G (p.Arg182Gly)	MLH1	Aug 04, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37008904	GAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTC
111033175	52484	NM_000260.3(MYO7A):c.6029A>G (p.Asp2010Gly)	MYO7A	Oct 28, 2006	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77208781	CCACGGTGCCAGGGAAGGATCCCATGGCCGATTCCATCTTCCACTATTACCAGGTGGGCAC
387906907	39433	NM_021625.4(TRPV4):c.826A>G (p.Lys276Glu)	TRPV4	Oct 25, 2016	MedGen:C0265281,OMIM:156530,Orphanet:ORPHA2635,SNOMED CT:22764001;MedGen:C0027868,Orphanet:ORPHA68381;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;MedGen:CN517202	Metatrophic dysplasia;Neuromuscular Diseases;Skeletal dysplasia;not provided	germline	12	109800645	GCCCAGGCCCGTGGGCGCTTCTTCCAGCCCAAGGATGAGGGGGGCTACTTCTACTTTGGTA
398123420	99037	NM_000489.4(ATRX):c.134-2A>G	ATRX	Jul 17, 2013	MedGen:CN517202	not provided	germline	X	77698631	ATAAATAATGTTCTTTATTTCTTCTTTTTTAGATAAAATCAGTGGTTCTGGAAGTAACTCT
483352887	136641	NM_000271.4(NPC1):c.1832A>G (p.Asp611Gly)	NPC1	-	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23545075	TTTCCTTCACTGCTGAACGAAGTATTGAAGATGAACTAAATCGTGAAAGTGACAGTGATGT
786205483	188848	NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly)	RNASEH2B	Feb 22, 2016	MedGen:C3489724,OMIM:610181;MedGen:CN517202	Aicardi Goutieres syndrome 2;not provided	germline;inherited	13	50934919	AGTTTCAGCCCCTTGATCAAGTTGTGGTGGATAACGTGTTTCCAAATTGCATCTTGTTGCT
-1	446567	NM_001456.3(FLNA):c.6203-2A>G	FLNA	Oct 31, 2015	MedGen:CN517202	not provided	germline	X	154352926	AGCACCGAGGCTCAGGGGTATCCATCCCCTAGGCTATGGTGGGCTCAGCCTGTCCATTGAG
312262748	49722	NM_025137.3(SPG11):c.2833A>G (p.Arg945Gly)	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44620191	ATGAGGAATGAAATTTTAGATAAGCTGGCCAGGTATTATAACTGTTGAACTAATACCCAAT
746770617	181563	NM_017534.5(MYH2):c.1975-2A>G	MYH2	May 01, 2010	MedGen:C1854106,OMIM:605637	Inclusion body myopathy 3	germline	17	10535367	CTAAAATGACAGGATTTTTCCTGGTTTTACAGGAGAATTTGAACAAGCTGATGACCAACCT
104894917	26104	NM_001015877.1(PHF6):c.700A>G (p.Lys234Glu)	PHF6	Dec 01, 2002	MedGen:C0265339,OMIM:301900,SNOMED CT:21634003	Borjeson-Forssman-Lehmann syndrome	germline	X	134413937	GCACGAGGAAAACTGCATATATTTAATGCCAAGAAGGCAGCTGCCCATTATAAGTGCATGG
398124100	100755	NM_004006.2(DMD):c.9650-2A>G	DMD	Jul 31, 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	31204120	TTGACTGTTGCAATTTTCTTCTTCCTTTGTAGACCTTTTCAAGCAAGTGGCAAGTTCAACA
398122940	71446	NM_001927.3(DES):c.1289-2A>G	DES	Jul 01, 2013	MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543	Muscular dystrophy, limb-girdle, type 2r	germline	2	219425661	TCAGGCTGAGTGTGCGATGGACCCTGTTACAGAAACCAGCCCTGAGCAAAGGGGTTCTGAG
587778866	132300	NM_000321.2(RB1):c.1927A>G (p.Lys643Glu)	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48456316	ACCTCAGCCTTCCAGACCCAGAAGCCATTGAAATCTACCTCTCTTTCACTGTTTTATAAAA
122461163	26483	NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser)	HSD17B10	Sep 01, 2005	MedGen:C1845517,OMIM:300438,Orphanet:ORPHA391417	2-methyl-3-hydroxybutyric aciduria	germline	X	53431450	TACAGGCCATCATCGAGAACCCATTCCTCAATGGAGAGGTCATCCGGCTGGATGGGGCCAT
121434443	21847	NM_004984.3(KIF5A):c.827A>G (p.Tyr276Cys)	KIF5A	Jul 11, 2017	MedGen:C0037772;MedGen:C1858712,OMIM:604187,Orphanet:ORPHA100991;MedGen:CN517202	Spastic paraplegia;Spastic paraplegia 10;not provided	germline	12	57569263	TCCTGGTCTCCTTCCTCCCCCAGAAAAGCTATGTTCCATATCGTGACAGCAAAATGACAAG
527853872	206623	NM_033409.3(SLC52A3):c.403A>G (p.Thr135Ala)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	765372	ACCTTCCTGCCGTTCATGAGCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTG
-1	446452	NM_000061.2(BTK):c.119A>G (p.Tyr40Cys)	BTK	Jun 29, 2017	MedGen:CN517202	not provided	germline	X	101375166	TTCTCTTGACCGTGCACAAACTCTCCTACTATGAGTATGACTTTGAACGTGGGGTAAGTTT
886039728	260268	NM_001184880.1(PCDH19):c.2849-2A>G	PCDH19	Aug 25, 2016	MedGen:CN517202	not provided	germline	X	100296877	GATGAAATTGATATTTTCTTTTTTCCAAACAGATCAGAATGAAGGATTTCATTGCCGGGAA
28941775	18792	NM_000375.2(UROS):c.184A>G (p.Thr62Ala)	UROS	Feb 01, 1992	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	germline	10	125815094	CATCCTGAAGATTACGGGGGACTCATTTTTACCAGCCCCAGAGCAGTGGAAGCAGCAGAGT
886041636	264482	NM_007055.3(POLR3A):c.491-2A>G	POLR3A	Mar 12, 2016	MedGen:CN517202	not provided	germline	10	78024705	TTATTTCTTGGTAAATAAACTAACCCTTATAGGTACCGTAAAGAAGTGTGGACTGCTGAAA
281875322	39106	NM_005359.5(SMAD4):c.1498A>G (p.Ile500Val)	SMAD4	Sep 18, 2017	MedGen:C0796081,OMIM:139210,Orphanet:ORPHA2588;MedGen:CN517202	Myhre syndrome;not provided	germline;unknown	18	51078306	ATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGG
587777013	71440	NM_001142519.2(FAM111A):c.1583A>G (p.Asp528Gly)	FAM111A	Jun 27, 2013	MedGen:C1865639,OMIM:602361,Orphanet:ORPHA2763	Gracile bone dysplasia	germline	11	59153251	GAAGTTTCCAGAAAATAGTTCACAACCCTGATGTGATTACCTATGACACTGAATTTTTCTT
758477536	365372	NM_015506.2(MMACHC):c.1A>G (p.Met1Val)	MMACHC	Jan 04, 2017	MedGen:CN517202	not provided	germline	1	45500333	CCCCAGCAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGA
397514710	71460	NM_002163.2(IRF8):c.322A>G (p.Lys108Glu)	IRF8	Sep 18, 2014	MedGen:C4016741,OMIM:614894	Immunodeficiency 32b	germline	16	85909137	CGGTCCCAACTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGC
758194385	226401	NM_000527.4(LDLR):c.1691A>G (p.Asn564Ser)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116198	CGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACA
28940892	18305	NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)	MC2R	Sep 01, 2002	MedGen:C4049650,OMIM:202200	ACTH resistance	germline	18	13884758	TCTGCCCAAGTAACCCCTACTGCGCCTGCTACATGTCTCTCTTCCAGGTGAACGGCATGTT
119476048	19387	NM_015915.4(ATL1):c.773A>G (p.His258Arg)	ATL1	Sep 21, 2010	MedGen:C2931355,OMIM:182600,Orphanet:ORPHA100984	Spastic paraplegia 3	germline	14	50614422	AAGAACTACAGAACGTCAGAAAACACATCCATTCCTGTTTCACCAACATTTCCTGTTTTCT
1057519424	361760	NM_007198.3(PLPBP):c.320-2A>G	PLPBP	Jan 07, 2017	MedGen:C4310632,OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	germline	8	37772753	AGGAATACTACTTTGCCTCTGTCTCATTACAGCTGTCCCCAATCTCTTCATGCTGGAAACA
763006761	439905	NM_000441.1(SLC26A4):c.1667A>G (p.Tyr556Cys)	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791	Enlarged vestibular aqueduct	germline	7	107700135	AGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTAT
137853595	15132	NM_004315.5(ASAH1):c.155A>G (p.Tyr52Cys)	ASAH1	Mar 01, 2001	MedGen:C0268255,OMIM:228000,SNOMED CT:79935000	Farber's lipogranulomatosis	germline	8	18075559	AGTGGACAGAGGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACAT
121964987	27003	NM_000108.4(DLD):c.214A>G (p.Lys72Glu)	DLD	Aug 01, 2011	MedGen:CN043137,OMIM:246900	Maple syrup urine disease, type 3	germline	7	107902340	TTTCTTTGGTTGTAGACAGTCTGCATTGAGAAAAATGAAACACTTGGTGGAACATGCTTGA
879255695	247712	NM_014191.3(SCN8A):c.643A>G (p.Asn215Arg)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51688786	AGGTATATAACAGAGTTTGTAAACCTAGGCAATGTTTCAGCTCTACGCACTTTCAGGGTAC
-1	431520	NM_005862.2(STAG1):c.646A>G (p.Arg216Gly)	STAG1	Aug 31, 2017	MedGen:CN429988,OMIM:617635;na	MENTAL RETARDATION, AUTOSOMAL DOMINANT 47;STAG1-related disorder	de novo;germline	3	136521243	CTTTTGACGGGTTTGTCAGACTCCCAGGTCAGAGCTTTTAGGCATACAAGTACCCTGGCTG
121918412	31104	NM_001146040.1(GLRA1):c.910A>G (p.Lys304Glu)	GLRA1	Oct 04, 2012	MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197	Hyperekplexia hereditary	germline	5	151851392	CAGAGCTCCGGCTCTCGAGCATCTCTGCCCAAGGTAAGTCCCATTGCCCAAGAGCACAGAA
121913494	30974	NM_000516.5(GNAS):c.680A>G (p.Gln227Arg)	GNAS	Jan 07, 2015	MedGen:C0242292,OMIM:174800,Orphanet:ORPHA562;MedGen:CN495005,OMIM:617686	McCune-Albright syndrome;PITUITARY ADENOMA 3, MULTIPLE TYPES	germline;somatic	20	58909541	TCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTG
1057519451	362158	NM_004796.5(NRXN3):c.196A>G (p.Lys66Glu)	NRXN3	-	Human Phenotype Ontology:HP:0004482,MedGen:C1849075;Human Phenotype Ontology:HP:0004322,MedGen:C0349588	Relative macrocephaly;Short stature	germline	14	78709310	AAGATGAAAATCTATGGCGAAGTTGTGTTTAAGTGTGAGAATGTGGCCACACTGGACCCCA
118203950	15900	NM_013319.2(UBIAD1):c.335A>G (p.Asp112Gly)	UBIAD1	Aug 01, 2007	Human Phenotype Ontology:HP:0007760,MedGen:C0271287,OMIM:121800,Orphanet:ORPHA98967,SNOMED CT:39662004,SNOMED CT:419395007	Schnyder crystalline corneal dystrophy	germline	1	11273866	ACACTTACTATGACTTTTCCAAGGGCATTGACCACAAAAAGAGTGATGACAGGACACTTGT
794726794	187806	NM_001165963.1(SCN1A):c.2537A>G (p.Glu846Gly)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166039475	ACGGTTTTATTGTGACGCTTAGCCTGGTAGAACTTGGACTCGCCAATGTGGAAGGATTATC
80358069	46203	NM_007294.3(BRCA1):c.5194-2A>G	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	43057137	TATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGT
1057516168	354123	NM_023067.3(FOXL2):c.644A>G (p.Tyr215Cys)	FOXL2	Jul 18, 2017	MedGen:C0220663,OMIM:110100,Orphanet:ORPHA126;MedGen:CN517202	Blepharophimosis, ptosis, and epicanthus inversus;not provided	germline	3	138946079	CGCTACCGCAGCCTCCCTCACCCATGCCCTATGCCTCCTGCCAGATGGCGGCAGCCGCAGC
-1	487525	NM_000053.3(ATP7B):c.2294A>G (p.Asp765Gly)	ATP7B	Apr 08, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline	13	51958372	AGGCGGAGAGGAGCCCTGTGACATTCTTCGACACGCCCCCCATGCTCTTTGTGTTCATTGC
1131690892	420540	NM_000321.2(RB1):c.1128-2A>G	RB1	Sep 18, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48373403	TTAACACATTTTCCTATTTTTATCCCCTCTAGGACTGTTATGAACACTATCCAACAATTAA
869320653	227102	NM_000255.3(MUT):c.653A>G (p.Gln218Arg)	MUT	Jul 28, 2014	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49457791	TACCTAAAGAGAAGCTTACTGGTACCATCCAAAATGATATACTAAAGGAATTTATGGTTCG
56307355	20933	NM_006502.2(POLH):c.1603A>G (p.Lys535Glu)	POLH	Mar 18, 2016	MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342	Xeroderma pigmentosum, variant type	germline	6	43614018	AGTACAGGAACTGAGCCCTTCTTTAAGCAGAAAAGTCTGCTTCTAAAGCAGAAACAGCTTA
587776905	40288	NM_004963.3(GUCY2C):c.1160A>G (p.Asp387Gly)	GUCY2C	May 04, 2012	MedGen:C0270246,OMIM:614665	Meconium ileus	germline	12	14672883	GTACCATGGTGCTTCTGTATACCTCTGTGGACACCAAGAAAGTATGTCTCACTGCTTATCA
199524907	195191	NM_000019.3(ACAT1):c.473A>G (p.Asn158Ser)	ACAT1	Aug 07, 2017	MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007	Deficiency of acetyl-CoA acetyltransferase	germline	11	108138935	TGGTGGCAGGTGGGATGGAGAGCATGTCCAATGTTCCATATGTAATGAACAGAGGATCAAC
1057519040	361717	NM_000141.4(FGFR2):c.923A>G (p.Tyr308Cys)	FGFR2	Sep 17, 2016	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008	Crouzon syndrome	germline	10	121519995	GCAGTAAATACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAGGTGAGGACTTTCTG
587777689	165474	NM_005726.5(TSFM):c.57+4A>G	TSFM	Aug 19, 2014	MedGen:C1864840,OMIM:610505,Orphanet:ORPHA168566	Combined oxidative phosphorylation deficiency 3	germline	12	57782862	CTGGTCGCGCGGACCGGGAGCTACCCGGTGAGAAGTCCTGGTGCTGGTACCGACCTGCTGT
398122779	97294	NM_000059.3(BRCA2):c.426-2A>G	BRCA2	Oct 02, 2015	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	32326099	TAACCTAAGGGATTTGCTTTGTTTTATTTTAGTCCTGTTGTTCTACAATGTACACATGTAA
730880805	179504	NM_000257.3(MYH7):c.4664A>G (p.Glu1555Gly)	MYH7	May 24, 2012	MedGen:CN517202	not provided	germline	14	23416293	CCCCTTCCCAGGCCTCCCTGGAGCACGAGGAGGGCAAGATCCTCCGGGCCCAGCTGGAGTT
-1	438515	NM_002010.2(FGF9):c.184A>G (p.Arg62Gly)	FGF9	Oct 25, 2017	MedGen:C2751826,OMIM:612961	Multiple synostoses syndrome 3	germline	13	21672096	ACGGACTTGGATCATTTAAAGGGGATTCTCAGGCGGAGGCAGCTATACTGCAGGACTGGAT
1064794014	407117	NM_001277115.1(DNAH11):c.1426-2A>G	DNAH11	Aug 27, 2015	MedGen:CN517202	not provided	germline	7	21571804	GTGGAAAGGTCTTTACTGTGTTTTTTACAAAGGATATATTTGCCACCACTTTGGAATTTGA
104894647	17550	NM_000346.3(SOX9):c.517A>G (p.Lys173Glu)	SOX9	Aug 28, 2000	MedGen:C1861923	Acampomelic campomelic dysplasia	germline	17	72122804	GTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGA
864622431	222596	NM_000267.3(NF1):c.3975-2A>G	NF1	Oct 04, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline	17	31248982	AGTGTTAGGATTTTATTTTTATTTTTTTGTAGGTTAGAACCATCAGAGAGCCTTGAGGAAA
690016554	171826	NM_005211.3(CSF1R):c.2655-2A>G	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150054432	TGCCCATGGGCATCCTCTGTCCTATCTCCCAGATACAGCATCATGCAGGCCTGCTGGGCCT
267608011	405816	NM_000251.2(MSH2):c.2459-2A>G	MSH2	Jan 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	2	47480694	TGTCCCCTCACGCTTCCCCAAATTTCTTATAGGTGTCTGTGATCAAAGTTTTGGGATTCAT
796052629	203784	NM_172107.3(KCNQ2):c.692A>G (p.Glu231Gly)	KCNQ2	May 09, 2013	MedGen:CN517202	not provided	germline	20	63442530	TCATGATGGTGGTGCCGTCTGCCTCTCAGGAGCTGGTCACTGCCTGGTACATCGGCTTCCT
398123429	99069	NM_000512.4(GALNS):c.1171A>G (p.Met391Val)	GALNS	Jun 13, 2013	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88824838	CCTATCTTCTATTACCGTGGCGACACGCTGATGGCGGCCACCCTCGGGCAGCACAAGGCTC
80338678	34060	NM_000528.3(MAN2B1):c.1831-2A>G	MAN2B1	Sep 22, 2016	MedGen:C0024748,OMIM:248500,Orphanet:ORPHA61,SNOMED CT:124466001	Deficiency of alpha-mannosidase	unknown	19	12652462	ACAAACCCATCTGTGGACCCTTTTCTGCCCAGCACATCCGGGCAACGTTTGATCCTGACAC
797044499	177747	NM_000169.2(GLA):c.802-2A>G	GLA	Feb 15, 2014	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398569	TCTTGTTTGAATTATTTCATTCTTTTTCTCAGTTAGTGATTGGCAACTTTGGCCTCAGCTG
587783974	168443	NM_133433.3(NIPBL):c.5428-2A>G	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37022242	TAAATTGTTTTTTTCTCTTCATTTTTCTTTAGCTTGATATGCAACGAGGTGTTCATGGACG
587777562	150445	NM_015599.2(PGM3):c.737A>G (p.Asn246Ser)	PGM3	Jul 03, 2014	MedGen:C4014371,OMIM:615816,Orphanet:ORPHA443811	Immunodeficiency 23	germline;inherited	6	83181786	TGTTTAATGATGGGTCCAAGGGCAAACTCAATCATTTATGTGGAGCTGACTTTGTGAAAAG
121918014	28718	NM_000478.5(ALPL):c.1250A>G (p.Asn417Ser)	ALPL	Jul 16, 2015	MedGen:C0268413,OMIM:146300,Orphanet:ORPHA247676,SNOMED CT:20756002;MedGen:C2673477,Orphanet:ORPHA247623;Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Adult hypophosphatasia;Hypophosphatasia, perinatal lethal;Infantile hypophosphatasia	germline;unknown	1	21576582	AGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGA
886041053	263498	NM_021942.5(TRAPPC11):c.1893+3A>G	TRAPPC11	Feb 21, 2017	MedGen:C3809236,OMIM:615356	Limb-girdle muscular dystrophy, type 2S	germline	4	183686751	CAAGCTCTGTGTCAGCTTTAATAATCAGGTAATGATGCCATGTCATGTGTTTTTACCACGT
201851934	367125	NM_000388.3(CASR):c.514A>G (p.Arg172Gly)	CASR	Jun 22, 2015	MedGen:CN517202	not provided	germline	3	122261549	TCTCTCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTCAAGT
879255688	247688	NM_012062.4(DNM1L):c.106A>G (p.Ser36Gly)	DNM1L	Sep 20, 2016	MedGen:C3280660,OMIM:614388,Orphanet:ORPHA330050;MedGen:CN517202	Encephalopathy due to defective mitochondrial and peroxisomal fission 1;not provided	germline	12	32701418	TTGCTCTTGTATATATTCTGTTTTCAGAGCAGCGGAAAGAGCTCAGTGCTAGAAAGCCTGG
121434504	23404	NM_006267.4(RANBP2):c.1966A>G (p.Ile656Val)	RANBP2	Dec 04, 2014	MedGen:C2675556,OMIM:608033,Orphanet:ORPHA88619	Encephalopathy, acute, infection-induced, 3, suceptibility to	germline	2	108753474	TATGAAGAAGACGCACACATAACTTTTGCTATATTGGATGCAGTAAATGGAAATATAGAAG
869312750	217271	NM_004230.3(S1PR2):c.419A>G (p.Tyr140Cys)	S1PR2	Oct 19, 2017	MedGen:C1835854,OMIM:610419	Deafness, autosomal recessive 68	germline	19	10224487	GCCACGTGGCCATTGCCAAGGTCAAGCTGTATGGCAGCGACAAGAGCTGCCGCATGCTTCT
763333945	405698	NM_000183.2(HADHB):c.1A>G (p.Met1Val)	HADHB	Feb 21, 2017	MedGen:CN517202	not provided	germline	2	26254255	ACTTTTGTTCTTCTCTTTTTAGATTCCAGAATGACTATCTTGACTTACCCCTTTAAAAATC
121908589	28591	NM_006206.5(PDGFRA):c.1664A>G (p.Tyr555Cys)	PDGFRA	Dec 01, 2006	MedGen:C2674636	Gastrointestinal stromal tumor, familial	germline	4	54274851	CCTGTCCTGGTCATTTATAGAAACCGAGGTATGAAATTCGCTGGAGGGTCATTGAATCAAT
200660051	434203	NM_000527.4(LDLR):c.262A>G (p.Arg88Gly)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102735	CGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACG
104894447	22029	NM_002408.3(MGAT2):c.785A>G (p.His262Arg)	MGAT2	Oct 01, 1996	MedGen:C0349654,OMIM:212066,SNOMED CT:277894008	Carbohydrate-deficient glycoprotein syndrome type II	germline	14	49622053	CTGGCCTTATACTTTTCCTAGAAGAGGATCACTACTTAGCCCCAGACTTTTACCATGTCTT
587777609	153586	NM_198282.3(TMEM173):c.461A>G (p.Asn154Ser)	TMEM173	Nov 28, 2017	MedGen:C4014722,OMIM:615934,Orphanet:ORPHA425120	Sting-associated vasculopathy, infantile-onset	unknown	5	139480849	TCTCTGCAGTGTGTGAAAAAGGGAATTTCAACGTGGCCCATGGGCTGGCATGGTCATATTA
-1	481215	NM_017780.3(CHD7):c.2915A>G (p.Gln972Arg)	CHD7	Oct 27, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	de novo	8	60822103	ATAAAAACAATAACAAACTCAGGGAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAA
961876891	431981	NM_023077.2(COA7):c.410A>G (p.Tyr137Cys)	COA7	Sep 08, 2017	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	1	52688006	GCCAGCCTGACTTGGGAAAGGCCAGGGACTACTACACAAGGGCCTGTGATGGTGGCTATAC
387907341	51107	NM_021629.3(GNB4):c.265A>G (p.Lys89Glu)	GNB4	Apr 22, 2013	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	Charcot-Marie-Tooth disease, dominant intermediate F	germline	3	179416495	TTAATTATTTGGGATAGCTATACAACAAATAAGGTAGAATTTCTTCATAATTCTTTTAAAT
397514591	48387	NM_001083614.1(EARS2):c.502A>G (p.Arg168Gly)	EARS2	Nov 20, 2012	MedGen:C3554079,OMIM:614924,Orphanet:ORPHA314051	Combined oxidative phosphorylation deficiency 12	germline	16	23535344	CTGCTCCCCATCAGGTATGACAATCGGTGCAGGAACATGAGCCAGGAGCAGGTGGCCCAGA
180177319	200620	NM_012203.1(GRHPR):c.84-2A>G	GRHPR	Nov 27, 2014	MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria, type II	germline	9	37424843	TGCTTCTCCTGAGGGCCTCCCTTTCCCCGCAGCTGTGAGGTGGAGCAGTGGGACTCGGATG
113304476	418952	NM_181507.1(HPS5):c.3058+3A>G	HPS5	Mar 14, 2017	MedGen:C3888004,OMIM:614074	Hermansky-Pudlak syndrome 5	unknown	11	18283792	GATATGAGCCTGATGGAAGGGGACAATGGTATGTCAATCCTAACTGGTTACTCTTGGTTGT
121913565	29372	NM_005912.2(MC4R):c.289A>G (p.Asn97Asp)	MC4R	Mar 20, 2003	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline	18	60372061	GCTGTGGCTGATATGCTGGTGAGCGTTTCAAATGGATCAGAAACCATTGTCATCACCCTAT
200017313	190727	NM_000182.4(HADHA):c.919-2A>G	HADHA	Feb 09, 2017	MedGen:CN074230,OMIM:609016;MedGen:C0342786,OMIM:609015,SNOMED CT:237999008;MedGen:CN517202	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency;not provided	germline;unknown	2	26212628	AACGCTGAGCAAGTGCTTTATATGTTTTTTAGGTGGTAAAGACTGGAATTGAGCAAGGGAG
766061024	359021	NM_032667.6(BSCL2):c.672-2A>G	BSCL2	Dec 08, 2016	MedGen:C1720863,OMIM:269700	Congenital generalized lipodystrophy type 2	germline	11	62691423	TACTACCTTCTTGTCCCTACTTCCTGCCTCAGATACCTGCTATACAACTTCCCGATGACCT
876657392	188220	NM_001288953.1(TTC7A):c.1102-2A>G	TTC7A	Apr 01, 2014	MedGen:C0220744,OMIM:243150,Orphanet:ORPHA436252,SNOMED CT:95472001	Multiple gastrointestinal atresias	germline	2	47006639	GTGGGTAAATGCTGACTATCTCCCCTCCCCAGTGCCTGGAGCGAGCCATGAAGTTTGCGTT
137852578	24870	NM_000044.4(AR):c.2632A>G (p.Thr878Ala)	AR	Jun 01, 1994	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	germline	X	67723710	CTACAGATTGCGAGAGAGCTGCATCAGTTCACTTTTGACCTGCTAATCAAGTCACACATGG
786205183	188033	NM_001110556.1(FLNA):c.1829-2A>G	FLNA	Dec 07, 2010	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	germline	X	154364721	AGGGCACTGAGGGGACTGGTGGCTGTTGTCAGGCTTCTCGGTGGAAGGGCCATCGCAGGCT
63751128	30527	NM_000518.4(HBB):c.*111A>G	HBB	Jun 30, 2017	MedGen:C3841475;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202	Beta-plus-thalassemia;beta Thalassemia;not provided	germline	11	5225487	AGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCAATGATGTA
104893665	27980	NM_003124.4(SPR):c.448A>G (p.Arg150Gly)	SPR	Jun 19, 2017	MedGen:C0268468,OMIM:612716,Orphanet:ORPHA70594,SNOMED CT:45116002;MedGen:CN517202	Sepiapterin reductase deficiency;not provided	germline	2	72888457	AAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTG
-1	426966	NM_001171.5(ABCC6):c.2153A>G (p.Asp718Gly)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182506	TAGAGAATGTGTGCTTCGGGCAGGAGCTGGACCCACCCTGGCTGGAGAGAGTACTAGAAGC
606231239	48238	NM_144577.3(CCDC114):c.487-2A>G	CCDC114	Feb 06, 2013	MedGen:C3540844,OMIM:615067	Ciliary dyskinesia, primary, 20	germline	19	48306325	GTGGCACTGATTTTTTTCTCCTCCCCCCACAGGAGATCCACCACCTGCATCACCTGGTCAG
267607048	21860	NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly)	SHOC2	Oct 31, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1860991,OMIM:609942;MedGen:C1843181,OMIM:607721;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202;MedGen:CN169374	Noonan syndrome;Noonan syndrome 3;Noonan syndrome-like disorder with loose anagen hair 1;Rasopathy;not provided;not specified	de novo;germline;unknown	10	110964362	GTAGTTTTTGTCCAGGCTTGAGTCACCATGAGTAGTAGTTTAGGAAAAGAAAAAGACTCTA
104894354	28525	NM_000217.2(KCNA1):c.676A>G (p.Thr226Ala)	KCNA1	Jan 30, 2017	MedGen:C1719788,OMIM:160120,Orphanet:ORPHA37612,SNOMED CT:421182009	Episodic ataxia type 1	germline	12	4912054	ATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGC
387906765	39045	NM_007315.3(STAT1):c.862A>G (p.Thr288Ala)	STAT1	Aug 01, 2011	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	germline	2	190995143	AAAAAGTTGGAGGAATTGGAACAGAAATACACCTACGAACATGACCCTATCACAAAAAACA
904293109	429011	NM_175073.2(APTX):c.875-2A>G	APTX	Nov 23, 2015	MedGen:C1859598,OMIM:208920,Orphanet:ORPHA1168	Adult onset ataxia with oculomotor apraxia	germline	9	32973654	GCTGGGATTTGACTTTTCTTCCTTGCCTGCAGCTGTGATCGAGATGGTACAAGAGGCTGGT
397515535	76531	NM_001006657.1(WDR35):c.2912A>G (p.Tyr971Cys)	WDR35	Sep 12, 2013	MedGen:C3150874,OMIM:613610	Cranioectodermal dysplasia 2	not provided	2	19931354	GAAGTAAACCTTTACGTGTCAAGAAGCTCTATGTACTGTCAGCCTTACTTATAGAGCAATA
-1	445666	NM_013275.5(ANKRD11):c.7471-2A>G	ANKRD11	Aug 11, 2017	MedGen:CN517202	not provided	germline	16	89275193	GCTGACCCCCCACACTCACCTTTTGCCTGTAGATCGCACCCCCTCCCTCCCTGGCGGAGCC
398123194	98442	NM_000159.3(GCDH):c.542A>G (p.Glu181Gly)	GCDH	Sep 07, 2012	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005	Glutaric aciduria, type 1	germline	19	12896028	GGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCAT
-1	418818	NM_000329.2(RPE65):c.1101A>G (p.Arg367=)	RPE65	May 09, 2017	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001	Leber congenital amaurosis	germline	1	68438214	CAGAAAGGCTCCCCAACCTGAAGTTAGGAGATATGTACTTCCTTTGAATATTGACAAGGTA
886040954	262860	NM_000059.3(BRCA2):c.9257-2A>G	BRCA2	Nov 26, 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	32394687	AATAACATTCTTTTCTTTTTTTTCCATTCTAGGACTTGCCCCTTTCGTCTATTTGTCAGAC
28358569	24673	m.827A>G	MT-RNR1	Apr 11, 2008	MedGen:C1838854,OMIM:580000,Orphanet:ORPHA168609;MedGen:C3151897,OMIM:500008	Aminoglycoside-induced deafness;Deafness, nonsyndromic sensorineural, mitochondrial	germline	MT	827	CCACACCCCCACGGGAAACAGCAGTGATTAACCTTTAGCAATAAACGAAAGTTTAACTAAG
137853117	16883	NM_138701.3(MPLKIP):c.430A>G (p.Met144Val)	MPLKIP	Mar 01, 2005	MedGen:C1961117,OMIM:234050	Trichothiodystrophy, nonphotosensitive 1	germline	7	40133169	AATGAGTTGGAAAATTATTTCAAGCCTTCAATGCTTGAAGATCCTTGGGCTGGCCTAGAAC
267607277	48357	NM_006888.4(CALM1):c.293A>G (p.Asn98Ser)	CALM1	Sep 20, 2016	MedGen:C4053736,OMIM:604772;MedGen:C4015671,OMIM:616247;MedGen:C3554047,OMIM:614916;MedGen:C3554047,OMIM:614916	Catecholaminergic polymorphic ventricular tachycardia type 1;Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4;Ventricular tachycardia, catecholaminergic polymorphic, 4	de novo;germline	14	90404386	TAACAATTGCTGAATGTTCACAGGATGGCAATGGTTATATCAGTGCAGCAGAACTACGTCA
118192248	34266	NM_004519.3(KCNQ3):c.914A>G (p.Asp305Gly)	KCNQ3	Apr 27, 2010	MedGen:C1852581,OMIM:121201	Benign familial neonatal seizures 2	not provided	8	132175472	AGATGAAAGAGGAGTTTGAGACCTATGCAGATGCCCTGTGGTGGGGCCTGGTGAGTCACTA
121908057	18712	NM_000229.1(LCAT):c.463A>G (p.Asn155Asp)	LCAT	Dec 01, 1995	MedGen:C0342895,OMIM:136120,Orphanet:ORPHA79292,SNOMED CT:238092004	Fish-eye disease	germline	16	67942731	CTGCACACACTGGTGCAGAACCTGGTCAACAATGGCTACGTGCGGGACGAGACTGTGCGCG
879255559	247601	NM_006701.4(TXNL4A):c.153+3A>G	TXNL4A	Mar 28, 2016	MedGen:C1837822,OMIM:608572,Orphanet:ORPHA1200	Burn-McKeown syndrome	germline	18	79988237	CGAGGTCCTGTACAGCATCGCCGAGAAGGTAGCGCGCCGGACTCTCCCGCTCTGCGGGCTG
-1	467001	NM_000088.3(COL1A1):c.3647A>G (p.Tyr1216Cys)	COL1A1	Nov 11, 2016	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline	17	50186807	AAGAGAAGGCTCACGATGGTGGCCGCTACTACCGGGCTGATGATGCCAATGTGGTTCGTGA
587777283	132027	NM_012338.3(TSPAN12):c.413A>G (p.Tyr138Cys)	TSPAN12	May 14, 2012	MedGen:C2750079,OMIM:613310	Exudative vitreoretinopathy 5	germline	7	120810518	TGGTCACTTTGAAAGCCAGGATGACAAATTATGGATTACCTAGATATCGGTGGCTTACTCA
397515418	48313	NM_018486.2(HDAC8):c.1001A>G (p.His334Arg)	HDAC8	Sep 13, 2012	MedGen:C3550903,OMIM:300882	Cornelia de Lange syndrome 5	germline	X	72462008	GGAAAACACTATCCTCTGAGATCCCAGATCATGAGGTAAGTAAGGCTCTGACAAGTCCTCT
1060500358	401633	NM_000267.3(NF1):c.1063-2A>G	NF1	Oct 04, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31201035	AAGGCTTTTGTTTTCTGTTGGGGTTTTTATAGAACCTGCTTTTTAATCCAAGTAAGCCATT
1060501418	397093	NM_000118.3(ENG):c.1A>G (p.Met1Val)	ENG	Apr 17, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;MedGen:CN169374	Osler hemorrhagic telangiectasia syndrome;not specified	germline	9	127854355	GCCCAGCGCACAGGCCCCCACGTGGACAGCATGGACCGCGGCACGCTCCCTCTGGCTGTTG
886041976	264653	NM_013275.5(ANKRD11):c.7714-2A>G	ANKRD11	Sep 21, 2016	MedGen:CN517202	not provided	germline	16	89270911	CCTGATGAAACTCCCGTGTTTGGTTTCCACAGGGTGACGAGAACAAGTCAGTGCGCGACCG
28936668	24229	NM_000095.2(COMP):c.1358A>G (p.Asn453Ser)	COMP	Feb 01, 1998	MedGen:C4016660	Epiphyseal dysplasia, multiple, 1, severe	germline	19	18786096	ACTCTCGGGACAACTGTCCCACGGTGCCTAACAGTGCCCAGGAGGACTCAGACCACGATGG
1060499803	389241	NM_001127180.1(MYO7A):c.4153-2A>G	MYO7A	Jun 04, 2016	MedGen:C1838701,OMIM:600060	Deafness, autosomal recessive 2	germline	11	77194352	CCAATGCATGACCGAGGCCTCCCCCCACCTAGGAGGACGACCTGGCTGAGCTGGCCTCCCA
121909537	33114	NM_001145.4(ANG):c.121A>G (p.Lys41Glu)	ANG	Apr 01, 2006	MedGen:C2678468,OMIM:611895	Amyotrophic lateral sclerosis type 9	germline	14	20693685	ACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTG
121434639	23826	NM_000107.2(DDB2):c.730A>G (p.Lys244Glu)	DDB2	Dec 10, 1999	MedGen:C1848411,OMIM:278740,SNOMED CT:56048001	Xeroderma pigmentosum, group E	germline	11	47234784	CAGCTTTGGAATCTCAGAATGCACAAAAAGAAAGTGACGCATGTGGCCCTGAACCCATGCT
587782774	152575	NM_000059.3(BRCA2):c.8332-2A>G	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;unknown	13	32370400	TACTAAATCAATATATTTATTAATTTGTCCAGATTTCTGCTAACAGTACTCGGCCTGCTCG
121918711	27560	NM_004612.3(TGFBR1):c.1199A>G (p.Asp400Gly)	TGFBR1	Mar 01, 2005	MedGen:C2697933,OMIM:609192	Loeys-Dietz syndrome 1	germline	9	99146553	TGAAACATTTTGAATCCTTCAAACGTGCTGACATCTATGCAATGGGCTTAGTATTCTGGGA
730882120	181163	NM_017777.3(MKS1):c.1382A>G (p.Tyr461Cys)	MKS1	Jan 01, 2014	MedGen:C2673873,OMIM:615990	Bardet-Biedl syndrome 13	germline	17	58207110	GCGGTTCTCTGGAACTGGAGGACCTCTCCTATGTACGGATACCAGGATCCTTCAAGGTGAC
797045477	208723	NM_001848.2(COL6A1):c.1003-2A>G	COL6A1	Nov 03, 2014	Human Phenotype Ontology:HP:0003198,MedGen:C0026848	Myopathy	germline	21	45990771	GTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGG
886041593	264172	NM_001080517.2(SETD5):c.2347-7A>G	SETD5	Aug 18, 2016	MedGen:CN517202	not provided	germline	3	9453732	TAATTATTGATAATTCTCTGGTTCTTTTCAATTATAGCGCTGGATAAAACAAGCCTTAGAA
104894918	26106	NM_001015877.1(PHF6):c.686A>G (p.His229Arg)	PHF6	Dec 01, 2002	MedGen:C0265339,OMIM:301900,SNOMED CT:21634003	Borjeson-Forssman-Lehmann syndrome	germline	X	134413923	AGGAAGAAAATGAAGCACGAGGAAAACTGCATATATTTAATGCCAAGAAGGCAGCTGCCCA
574462207	418825	NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=)	RPGRIP1	May 09, 2017	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001	Leber congenital amaurosis	germline	14	21302561	GGAGCATGCGACAAATGAAAACAGAGGTGAAGTAGCCAGTAAACCCAGTGAACTGTGAGTT
104894425	19375	NM_014239.3(EIF2B2):c.638A>G (p.Glu213Gly)	EIF2B2	Jun 01, 2003	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854;MedGen:C1847967,Orphanet:ORPHA99853	Leukoencephalopathy with vanishing white matter;Ovarioleukodystrophy	germline	14	75005906	TGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTT
121913082	31549	NM_000043.5(FAS):c.763A>G (p.Asn255Asp)	FAS	Apr 11, 2013	MedGen:C4016044	SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC	somatic	10	89014205	GTTAAAGGCTTTGTTCGAAAGAATGGTGTCAATGAAGCCAAAATAGATGAGATCAAGAATG
141488085	167356	NM_001813.2(CENPE):c.4063A>G (p.Lys1355Glu)	CENPE	Aug 01, 2014	MedGen:C4015080,OMIM:616051	Primary autosomal recessive microcephaly 13	germline	4	103147427	AAATCTCTAACCAAGGAAAGAGACAACCTTAAAACGATAAAAGAAGCCCTTGAAGTTAAAC
180177452	103852	NM_001243133.1(NLRP3):c.2576A>G (p.Tyr859Cys)	NLRP3	Feb 22, 2012	MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000;MedGen:CN517202	Familial cold urticaria;not provided	germline	1	247436053	TGAGCACCAGCCATTCCCTGACCAGACTCTATGTGGGGGAGAATGCCTTGGGAGACTCAGG
137854541	15416	NM_000308.3(CTSA):c.200A>G (p.Gln67Arg)	CTSA	Jun 01, 1993	MedGen:C0268233,OMIM:256540,Orphanet:ORPHA351,SNOMED CT:35691006	Combined deficiency of sialidase AND beta galactosidase	germline	20	45891714	CCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTC
1131691240	421017	NM_000143.3(FH):c.379-2A>G	FH	Sep 16, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	1	241512145	TTTAAAATACATTTTTAACATTTTTTCTGCAGGTAGCTGAAGGTAAATTAAATGATCATTT
794727073	191270	NM_019109.4(ALG1):c.1188-2A>G	ALG1	Oct 30, 2014	MedGen:C2931005,OMIM:608540,Orphanet:ORPHA79327	Congenital disorder of glycosylation type 1K	germline	16	5083680	CAGCTCTCAGGCTCCCTTGGTTCTCTCTGCAGTTTACATGAGCTGGTGAAACATGAAGAAA
118204046	15802	NM_015702.2(MMADHC):c.746A>G (p.Tyr249Cys)	MMADHC	Apr 03, 2008	MedGen:C1848553	Homocystinuria, cblD type, variant 1	germline	2	149570119	ACAACACTCTTTTTGAAACTGATGAACGCTACCGACATTTAGGATTCTCTGTTGATGACCT
587777648	153769	NM_139276.2(STAT3):c.1175A>G (p.Lys392Arg)	STAT3	Aug 01, 2014	MedGen:C4014795,OMIM:615952,Orphanet:ORPHA438159	Autoimmune disease, multisystem, infantile-onset, 1	germline	17	42329612	GGAAATTTAACATTCTGGGCACAAACACAAAAGTGATGAACATGGAAGAATCCAACAACGG
33914668	34043	NM_000518.4(HBB):c.316-2A>G	HBB	Jun 30, 2017	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202;MedGen:CN169374	beta Thalassemia;not provided;not specified	germline;unknown	11	5225728	TCATGTTCATACCTCTTATCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCT
121918410	31102	NM_001146040.1(GLRA1):c.920A>G (p.Tyr307Cys)	GLRA1	Oct 04, 2012	MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197	Hyperekplexia hereditary	germline	5	151829060	TTTCTCCTCCACCCCCACTCTAGGTGTCCTATGTGAAAGCCATTGACATTTGGATGGCAGT
879255033	246348	NM_000527.4(LDLR):c.1820A>G (p.His607Arg)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116973	CCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTG
1060501226	401994	NM_004360.4(CDH1):c.49-2A>G	CDH1	May 13, 2016	MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary diffuse gastric cancer	germline	16	68738295	ACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGA
72556290	103136	NM_000531.5(OTC):c.542A>G (p.Glu181Gly)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403619	TTTCATCTCCTTCATCCCGTGCCTTTTAGGAACACTATAGCTCTCTGAAAGGTCTTACCCT
397515553	94346	NM_004595.4(SMS):c.983A>G (p.Tyr328Cys)	SMS	Sep 15, 2013	MedGen:C0796160,OMIM:309583,Orphanet:ORPHA3063	Snyder Robinson syndrome	germline	X	21992634	GTGTCAATCTGACAGAAGCACTGTCGCTCTATGAAGAACAGCTGGGGCGCCTGTATTGTCC
60723330	29641	NM_005557.3(KRT16):c.374A>G (p.Asn125Ser)	KRT16	Feb 22, 2016	MedGen:C1706595,OMIM:167200;MedGen:C2751804,OMIM:613000;MedGen:CN517202	Pachyonychia congenita 1;Palmoplantar keratoderma, nonepidermolytic, focal;not provided	germline	17	41612315	GCAGTGAGAAGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGT
104894730	27464	NM_000363.4(TNNI3):c.532A>G (p.Lys178Glu)	TNNI3	Jan 01, 2003	MedGen:C1861861,OMIM:115210	Familial restrictive cardiomyopathy 1	germline	19	55154047	GACCTGCGGGCCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTGAGTGTGGGCT
387906847	39251	NM_002552.4(ORC4):c.521A>G (p.Tyr174Cys)	ORC4	Aug 12, 2016	MedGen:C3151097,OMIM:613800;MedGen:CN517202	Meier-Gorlin syndrome 2;not provided	germline	2	147952440	TTGCTCATCATAAAAACCAAACACTTCTCTATAATCTTTTTGACATTTCTCAGTCTGCACA
869312722	225909	NM_017671.4(FERMT1):c.-20A>G	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6122775	GAGGCTGGACGCTACGGGCTCCTGGAAAGGAGGTGGGTGCTCCGGAGCTAGGGCTGGGGAG
587776815	29620	NM_000421.3(KRT10):c.1374-2A>G	KRT10	Oct 01, 2010	MedGen:C1836681,OMIM:609165	Erythroderma, ichthyosiform, congenital reticular	germline	17	40819163	GAGATAACCGAATGTGACCTCACCCCGTTTAGTTCCGGAGGCGGCGGACGCGGCGGCGGAA
727504006	177826	NM_020166.4(MCCC1):c.137-2A>G	MCCC1	Dec 06, 2017	MedGen:CN028786,OMIM:210200;MedGen:CN517202	3 Methylcrotonyl-CoA carboxylase 1 deficiency;not provided	germline	3	183092547	TTTCTGTGTGATTTTCATGGTGTTTTAAACAGGAAGAAACATTACCAAGGTCCTCATTGCA
267606887	18561	NM_005957.4(MTHFR):c.971A>G (p.Asn324Ser)	MTHFR	May 01, 2003	MedGen:CN068661	Homocystinuria due to MTHFR deficiency	germline	1	11795158	TGGTGCCAGGCCTCCACTTCTACACCCTCAACCGCGAGATGGCTACCACAGAGGTGCTGAA
863225428	214760	NM_014008.4(CCDC22):c.49A>G (p.Thr17Ala)	CCDC22	Jan 01, 2012	MedGen:C4225419,OMIM:300963	Ritscher-schinzel syndrome 2	germline	X	49235685	ATCCTCATCCATTCGCTGCGCCAGGCCGGCACGTAAGGACAGAGCCCCCGCCCACCCCCGA
398124303	101630	NM_015560.2(OPA1):c.983A>G (p.Lys328Arg)	OPA1	Nov 12, 2015	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009;MedGen:CN517202	Dominant hereditary optic atrophy;not provided	germline	3	193638064	CTGGGGAGATGATGACACGTTCTCCAGTTAAGGTAAGAACATAGGCCGTCTCAGTGAGGTT
28933671	25248	NM_000132.3(F8):c.1226A>G (p.Glu409Gly)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154966471	AAACTTGGGTACATTACATTGCTGCTGAAGAGGAGGACTGGGACTATGCTCCCTTAGTCCT
794728019	197405	NM_001613.2(ACTA2):c.1A>G (p.Met1Val)	ACTA2	May 05, 2015	MedGen:CN517202	not provided	germline	10	88948930	TCTATAGAATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGG
886041855	265166	NM_004187.3(KDM5C):c.1402-2A>G	KDM5C	Jul 05, 2016	MedGen:CN517202	not provided	germline	X	53210859	CATGCCCTTTTTACAAATACCTGACCTGGCAGGAGTATGCTACCAGTGGTTGGAACCTAAA
137852624	24399	NM_000215.3(JAK3):c.299A>G (p.Tyr100Cys)	JAK3	Nov 01, 2001	MedGen:C1833275,OMIM:600802,Orphanet:ORPHA35078	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	germline	19	17843786	TGGAGGATGCCAGCACCCAAGTCCTGCTGTACAGGATTCGGTAGGAAGTGCCCCCCAGCCC
137854614	24414	NM_000335.4(SCN5A):c.5381A>G (p.Tyr1794Cys)	SCN5A	Aug 17, 2001	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C1859062,OMIM:603830	Congenital long QT syndrome;Long QT syndrome 3	germline	3	38550988	CCCTGAGTGAGGACGACTTCGATATGTTCTATGAGATCTGGGAGAAATTTGACCCAGAGGC
137852540	24967	NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser)	PRPS1	Dec 15, 1993	MedGen:C1970827,OMIM:300661,Orphanet:ORPHA3222	Phosphoribosylpyrophosphate synthetase superactivity	germline	X	107640936	GGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGCTATCTGTAGCAGGTGCAGATCATAT
397516441	52769	NM_000551.3(VHL):c.467A>G (p.Tyr156Cys)	VHL	Jun 28, 2017	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	10149790	CTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGT
947976672	442153	NM_000435.2(NOTCH3):c.773A>G (p.Tyr258Cys)	NOTCH3	May 20, 2015	MedGen:CN517202	not provided	germline	19	15191774	GGGGGACATGCGTGGATGGCGTCAACACCTATAACTGCCAGTGCCCTCCTGAGTGGACAGG
104886379	35934	NM_000495.4(COL4A5):c.3107-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108626208	GTAAAATATTATATATCACATATTTTCAACAGGGCCTCAGGGTGTGGAAGGGCCTCCTGGA
45517096	58362	NM_000548.4(TSC2):c.226-2A>G	TSC2	Sep 03, 2013	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2053340	ATCCTCACCGCTGTCCCCTCTGCTGGTGACAGCACGCAGTGGAAGCACTCTGGAAGGCGGT
144422014	26920	NM_002769.4(PRSS1):c.161A>G (p.Asn54Ser)	PRSS1	Apr 01, 2005	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Hereditary pancreatitis	germline	7	142750675	GCTACCACTTCTGTGGTGGCTCCCTCATCAACGAACAGTGGGTGGTATCAGCAGGCCACTG
773432002	226967	NM_001242875.2(ELP2):c.812A>G (p.His271Arg)	ELP2	Jun 07, 2017	na;MeSH:D030342,MedGen:C0950123;MedGen:C4310641,OMIM:617270;MedGen:CN517202	ELP2-Related Disorders;Inborn genetic diseases;Mental retardation, autosomal recessive 58;not provided	germline	18	36142309	AGTTTCAGAAAGTGCTTTCTCTCTGTGGACATGAGGATTGGATTAGAGGAGTGGAATGGGC
121912818	32548	NM_020549.4(CHAT):c.1444A>G (p.Arg482Gly)	CHAT	Feb 13, 2001	MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Familial infantile myasthenia	germline	10	49649569	GACTCCGTCAGCGAGCTCCCCGCCCCCCGGAGGCTGCGGTGGAAATGCTCCCCGGAAATTC
886041717	264894	NM_001271.3(CHD2):c.3067-2A>G	CHD2	Mar 24, 2017	MedGen:CN517202	not provided	germline	15	92984328	GAAATGTCAGACAATGGGTTGTCTGTTTTAAGGTTGCCAACTTTGCAACAATGGAAGATGA
104894922	26719	NM_000307.4(POU3F4):c.1000A>G (p.Lys334Glu)	POU3F4	Feb 03, 1995	MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383	Deafness, X-linked 2	germline	X	83509324	GTCTGGTTCTGTAATCGAAGACAAAAAGAGAAAAGAATGACTCCGCCAGGGGATCAGCAGC
143951267	21161	NM_001029.4(RPS26):c.1A>G (p.Met1Val)	RPS26	Feb 12, 2010	MedGen:C2750080,OMIM:613309	Diamond-Blackfan anemia 10	germline	12	56042167	CGTCTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGG
119473032	19285	NM_021020.3(LZTS1):c.355A>G (p.Lys119Glu)	LZTS1	Mar 30, 1999	MedGen:C4016881	Esophageal squamous cell carcinoma, somatic	somatic	8	20253576	CGCGGTCCTTTTCCTCTACAGGGCTCCGAGAAGGGTGCAGTGAGGCCCACAGCCTTCAAGC
62514927	15629	NM_000277.2(PAH):c.611A>G (p.Tyr204Cys)	PAH	Jul 20, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102855231	TGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGA
141952252	94576	NM_012243.2(SLC35A3):c.886A>G (p.Ser296Gly)	SLC35A3	Jan 21, 2016	MedGen:C3809910,OMIM:615553,Orphanet:ORPHA370943	Arthrogryposis, mental retardation, and seizures	germline	1	100017814	TATTTTTGGCTTCAAGATTTTGTGCCAACCAGGTAAAATGTTCTTTTCTATTTTTTTAAAT
387906638	38694	NM_001244710.1(GFPT1):c.43A>G (p.Thr15Ala)	GFPT1	Feb 11, 2011	MedGen:C3552335,OMIM:610542	Congenital myasthenic syndrome 12	germline	2	69374078	TTTGCTTACTTAAACTACCATGTTCCTCGAACGAGACGAGAAATCCTGGAGACCCTAATCA
74315336	22993	NM_000261.1(MYOC):c.1267A>G (p.Lys423Glu)	MYOC	Aug 01, 1998	MedGen:C1842028,OMIM:137750	Primary open angle glaucoma juvenile onset 1	germline	1	171636173	CTCGAACAAACCTGGGAGACAAACATCCGTAAGCAGTCAGTCGCCAATGCCTTCATCATCT
886042268	266176	NM_000271.4(NPC1):c.3246-2A>G	NPC1	Nov 18, 2016	MedGen:C3179455,OMIM:257220;MedGen:CN517202	Niemann-Pick disease type C1;not provided	germline	18	23535702	AGCTTTAATGAGGCCTCCCCTCTCCCCTCCAGTGTGTTTTATGTCTTCTACGAACAGTACC
199474718	51283	NM_152263.3(TPM3):c.733A>G (p.Arg245Gly)	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	154170442	CAGGCAGAGACCCGTGCTGAGTTTGCTGAGAGATCGGTAGCCAAGCTGGAAAAGACAATTG
794729133	198427	NM_004572.3(PKP2):c.1171-2A>G	PKP2	Aug 22, 2016	MedGen:CN517202	not provided	germline	12	32850975	ATATTAGAAATATGCATCTGCTTCTTCCCCAGGTTAACCAGCTTCGTGGCATCCTCAAGCT
-1	481427	NM_002495.3(NDUFS4):c.178-2A>G	NDUFS4	Nov 08, 2017	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	inherited	5	53646231	GAAACGTGTTTTTTTTTCTTGTTTTTCTGTAGGATATCACTACTTTAACTGGAGTTCCAGA
137854591	25965	NM_000397.3(CYBB):c.302A>G (p.His101Arg)	CYBB	Jun 01, 1991	MedGen:C1844378;MedGen:CN517202	Granulomatous disease, chronic, X-linked, variant;not provided	germline	X	37792024	GAAGACAACTGGACAGGAATCTCACCTTTCATAAAATGGTGGCATGGATGATTGCACTTCA
527236159	15246	NM_001194958.2(KCNJ18):c.1097A>G (p.Lys366Arg)	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	21703883	GCTGCAGTGCGAAGGATCTGGTAGAGAACAAGTTCCTGCTGCCCAGTGCCAACTCCTTCTG
267607712	152570	NM_000249.3(MLH1):c.117-2A>G	MLH1	Mar 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	germline	3	36996617	ACTGATAAATTATTTTCTGTTTGATTTGCCAGTTTAGATGCAAAATCCACAAGTATTCAAG
796053522	204232	NM_052859.3(RFT1):c.1222A>G (p.Met408Val)	RFT1	Dec 01, 2012	MedGen:C2677590,OMIM:612015,Orphanet:ORPHA244310	Congenital disorder of glycosylation type 1N	germline	3	53092605	TCCTGTCTCCTCCCCAGGTACAATTTTGTGATGCTGGCCCTGTCCTCCTCATTCCTGGTGT
121912750	32809	NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala)	SLC4A1	Jan 01, 1998	MedGen:C2675212,OMIM:612653	Spherocytosis type 4	germline	17	44251305	CAGGTGAAGACCTGGCGCATGCACTTATTCACGGGCATCCAGATCATCTGCCTGGCAGTGC
199422302	47720	NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys)	TERT	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	Aplastic anemia	not provided	5	1268565	TCCTCTCCACGCTGCTCTGCAGCCTGTGCTACGGCGACATGGAGAACAAGCTGTTTGCGGG
-1	439899	NM_000441.1(SLC26A4):c.82A>G (p.Ser28Gly)	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791	Enlarged vestibular aqueduct	germline	7	107661723	TGCAGCTACATGGTGTCGCGGCCGGTCTACAGCGAGCTCGCTTTCCAGCAACAGCACGAGC
879253733	227430	NM_001289067.1(HELLS):c.2234A>G (p.Gln745Arg)	HELLS	Jun 10, 2011	MedGen:C4310798,OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	germline	10	94594702	TTATTTTTCTTTTTAACTTTAAGAACCCCCAGTCGGATCTTCAGGCCCAGGATAGATGTCA
111033830	36553	NM_000155.3(GALT):c.574A>G (p.Ser192Gly)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648343	TCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTG
794726661	18507	NM_000280.4(PAX6):c.1033-2A>G	PAX6	Dec 09, 2016	MedGen:C0344542,OMIM:106210;MedGen:CN517202	Aniridia 1;not provided	germline	11	31790862	CAGTAACCACAGGTTTGCCTCTCTCCTCACAGCCCCCAGTCCCCAGCCAGACCTCCTCATA
397508233	67958	NM_000492.3(CFTR):c.1585-2A>G	CFTR	Apr 13, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117587737	GTGACTCTCTAATTTTCTATTTTTGGTAATAGGACATCTCCAAGTTTGCAGAGAAAGACAA
587776515	15536	NM_173560.3(RFX6):c.224-12A>G	RFX6	Feb 11, 2010	MedGen:C2748662,OMIM:615710,Orphanet:ORPHA293864	Mitchell-Riley syndrome	germline	6	116877784	TATATTCTATTTTTCTTTATCATCCCTTCAACTGGCAATCAGAAATGCACTTAAACAATGG
-1	439569	NM_000829.3(GRIA4):c.1921A>G (p.Asn641Asp)	GRIA4	Feb 07, 2018	MedGen:CN800195,OMIM:617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	de novo;germline	11	105926814	ACACTCATCATTATATCATCTTATACTGCTAACCTCGCTGCTTTCCTGACGGTTGAGCGAA
397514610	48423	NM_006567.4(FARS2):c.431A>G (p.Tyr144Cys)	FARS2	Jun 22, 2016	MedGen:C3554168,OMIM:614946,Orphanet:ORPHA319519;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:C0162666,SNOMED CT:447292006;MedGen:CN517202	Combined oxidative phosphorylation deficiency 14;Global developmental delay;Mitochondrial encephalomyopathy;not provided	germline;inherited	6	5369001	ATCACCCCAGCAGGAAGAAGGGGGACAACTATTACCTGAATCGGACTCACATGCTGAGAGC
797044610	190198	NM_000033.3(ABCD1):c.887A>G (p.Tyr296Cys)	ABCD1	Sep 11, 2014	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153726153	TGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGT
1057519518	362305	NM_001005463.2(EBF3):c.196A>G (p.Asn66Asp)	EBF3	Feb 07, 2017	MedGen:C4310618,OMIM:617330	Hypotonia, ataxia, and delayed development syndrome	germline	10	129963462	AAGCAGCCGCCTTCCAACCTCCGGAAATCCAATTTCTTCCACTTCGTGCTGGCGCTCTACG
886041597	264096	NM_014946.3(SPAST):c.1331A>G (p.Asp444Gly)	SPAST	Jul 07, 2016	MedGen:CN517202	not provided	germline	2	32136886	TTATACTTGTATTTCCTCTAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGA
121913560	29362	NM_005912.2(MC4R):c.508A>G (p.Ile170Val)	MC4R	Aug 01, 2001	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline	18	60371842	ATTATGACAGTTAAGCGGGTTGGGATCATCATAAGTTGTATCTGGGCAGCTTGCACGGTTT
727504434	178209	NM_000501.3(ELN):c.890-2A>G	ELN	Mar 02, 2012	Human Phenotype Ontology:HP:0004381,MedGen:C0003499,OMIM:185500,Orphanet:ORPHA3193,SNOMED CT:268185002	Supravalvar aortic stenosis	germline	7	74051922	AAGGACCTCACCCTCTGTGGCTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT
863225086	214749	NM_002435.2(MPI):c.1205A>G (p.Glu402Gly)	MPI	-	MedGen:C1865145,OMIM:602579,Orphanet:ORPHA79319	Congenital disorder of glycosylation type 1B	inherited	15	74897663	GTGGTGGCGTGCTCTTCATTGGGGCCAATGAGAGTGTCTCACTGAAGCTTACTGAGCCGAA
104894248	23716	NM_000525.3(KCNJ11):c.776A>G (p.His259Arg)	KCNJ11	Sep 01, 2005	MedGen:C0027773,OMIM:601820,SNOMED CT:42681006	Islet cell hyperplasia	germline	11	17387316	TCTTCCTGGTGGCCCCGCTGATCATCTACCATGTCATTGATGCCAACAGCCCACTCTACGA
371271054	39529	NM_022445.3(TPK1):c.656A>G (p.Asn219Ser)	TPK1	Jun 17, 2015	MedGen:C3280866,OMIM:614458,Orphanet:ORPHA293955;MedGen:CN517202	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type);not provided	germline	7	144453621	TTGCTTTTGGAACATTGGTCAGTACTTCCAATACCTACGACGGGTCTGGTGTTGTGACTGT
587776986	65676	NM_002972.3(SBF1):c.1249A>G (p.Met417Val)	SBF1	Jul 09, 2013	MedGen:C3695063,OMIM:615284,Orphanet:ORPHA363981	Charcot-Marie-Tooth disease, type 4B3	germline	22	50465084	CAGCGTGGGCTGGTAGAGGACGATTTCCTGATGAAGGTGCTGGAGGGCATGGCCTTTGCTG
387907048	39868	NM_020320.4(RARS2):c.1024A>G (p.Met342Val)	RARS2	Aug 01, 2010	MedGen:C1969084,OMIM:611523,Orphanet:ORPHA166073	Pontocerebellar hypoplasia type 6	germline	6	87521475	GATCGAATGGACAAGTATAATTTTGATACAATGATATATGTGGTAAGTAATCAGAACAAAA
786204991	187580	NM_003159.2(CDKL5):c.91A>G (p.Arg31Gly)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo	X	18510846	ATAGGAGCCTATGGAGTTGTACTTAAATGCAGACACAAGGCAAGTACATTATTTTTAAAAA
1057520789	374565	NM_170665.3(ATP2A2):c.2384A>G (p.Asn795Ser)	ATP2A2	Jun 05, 2015	MedGen:CN517202	not provided	germline	12	110343297	CTTTGATTCCTGTTCAGCTGCTCTGGGTCAATCTGGTGACAGATGGCCTGCCTGCCACTGC
878854401	227686	NM_024665.5(TBL1XR1):c.734A>G (p.Tyr245Cys)	TBL1XR1	Oct 18, 2017	MedGen:C0795942,OMIM:270710,OMIM:616944,Orphanet:ORPHA2823	Fitzsimmons-Guilbert syndrome	germline	3	177047518	GTGAAGGTACACTTCTAGCAACTGGTTCCTATGATGGGTTTGCCAGAATATGGACTAAAGA
28939094	19390	NM_015915.4(ATL1):c.1222A>G (p.Met408Val)	ATL1	Sep 21, 2010	MedGen:C2931355,OMIM:182600,Orphanet:ORPHA100984	Spastic paraplegia 3	germline	14	50628133	TCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACC
72555371	15987	NM_000404.3(GLB1):c.1772A>G (p.Tyr591Cys)	GLB1	Jan 01, 2000	MedGen:C1968747	GM1-gangliosidosis, type I, with cardiac involvement	germline	3	32997307	TCTGGATTAATGGCTTTAACCTTGGCCGCTATTGGCCAGCCCGGGGCCCTCAGTTGACCTT
1057519280	361777	NM_014727.2(KMT2B):c.7050-2A>G	KMT2B	Dec 09, 2017	MedGen:C4310633,OMIM:617284	Dystonia 28, childhood-onset	de novo;germline	19	35733761	CCTTCCCCTTCCTGACAGGTCTCTTCTCGCAGGCCCCTCCAGGAACGGTCCCCTTTGCTGC
387907109	40064	NM_201269.2(ZNF644):c.2014A>G (p.Ser672Gly)	ZNF644	Jun 01, 2011	MedGen:C3279997,OMIM:614167	Myopia 21, autosomal dominant	germline	1	90939340	AAGCGAACATTTGGATCAACCTCACAATCAAGTAGTTTTTCAAAAATTCATAAGCGGCCAC
199422243	47546	NM_001363.4(DKC1):c.127A>G (p.Lys43Glu)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	not provided	X	154765486	GCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGC
1085307407	414386	NM_000020.2(ACVRL1):c.602A>G (p.Gln201Arg)	ACVRL1	-	MedGen:C1832529	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	12	51914050	CCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCA
1085307285	414229	NM_001204.6(BMPR2):c.992A>G (p.His331Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202530818	AAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGT
137852306	25515	NM_000032.4(ALAS2):c.1702A>G (p.Ser568Gly)	ALAS2	Jul 01, 1999	MedGen:C0221018,OMIM:300751,Orphanet:ORPHA98362,SNOMED CT:62677000	Hereditary sideroblastic anemia	germline	X	55009242	TGTCGCCGTCCTGTACACTTTGAGCTCATGAGTGAGTGGGAACGTTCCTACTTCGGGAACA
121918461	28369	NM_002834.4(PTPN11):c.182A>G (p.Asp61Gly)	PTPN11	Aug 10, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C0041409,OMIM:163950;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Noonan syndrome 1;Rasopathy;not provided	germline	12	112450362	TCACCCACATCAAGATTCAGAACACTGGTGATTACTATGACCTGTATGGAGGGGAGAAATT
-1	446482	NM_002294.2(LAMP2):c.929-2A>G	LAMP2	Aug 22, 2017	MedGen:CN517202	not provided	germline	X	120441896	AGAAGTTACTAACCTGTTTCTTTTCTTTGAAGTTTTCAGCATTGCAAATAACAATCTCAGC
-1	417116	NM_019098.4(CNGB3):c.1056-2A>G	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86643875	GAATCTTACTTTGCATCTATTCTCTCTGACAGAGTTATTCGAACAACTGGATACTTGCTGT
104886341	35818	NM_000495.4(COL4A5):c.2042-18A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108601867	CTTCTTTCTTTGAACGTTTTCCTTTCAATAACTGCTGTTTCTCCATAGGTGACCCTGGACT
61348633	29677	NM_000424.3(KRT5):c.1424A>G (p.Glu475Gly)	KRT5	Mar 19, 1992	MedGen:C0079295,OMIM:131760,Orphanet:ORPHA79396;MedGen:CN517202	Epidermolysis bullosa herpetiformis, Dowling-Meara;not provided	germline	12	52516652	TGGAGATCGCCACTTACCGCAAGCTGCTGGAGGGCGAGGAATGCAGGTGAGTAGACAGCAT
587776512	15445	NM_000353.2(TAT):c.236-5A>G	TAT	Oct 01, 1992	MedGen:C0268487,OMIM:276600,Orphanet:ORPHA28378	Tyrosinemia type 2	germline	16	71576031	TCTTGGCTCCTTTTGTGTTTTCCTCCCATAAAAAGGGGACCCTACTGTGTTTGGAAACCTG
104893975	16734	NM_182548.3(LHFPL5):c.380A>G (p.Tyr127Cys)	LHFPL5	Aug 01, 2006	MedGen:C1853223,OMIM:610265	Deafness, autosomal recessive 67	germline	6	35806050	TGTTCTTCATCTGCAACACGGCCACAGTCTATAAGATCTGTGCATGGATGCAGCTGGCTGC
111033635	36452	NM_000155.3(GALT):c.67A>G (p.Thr23Ala)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34646771	CAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGG
796053217	202742	NM_014191.3(SCN8A):c.4435A>G (p.Ile1479Val)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51790413	TCTTCCCTCCTTTACTTCGGAGGTCAGGACATCTTCATGACCGAAGAACAGAAGAAGTACT
1057516076	354032	NM_172107.3(KCNQ2):c.340A>G (p.Thr114Ala)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63446794	TTCTCCTGCCTCGTGCTGTCTGTGTTTTCCACCATCAAGGAGTATGAGAAGAGCTCGGAGG
121917990	79404	NM_006920.4(SCN1A):c.1876A>G (p.Ser626Gly)	SCN1A	Dec 20, 2014	MedGen:C0014548,SNOMED CT:19598007;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Generalized epilepsy;Severe myoclonic epilepsy in infancy	de novo;unknown	2	166043836	GAGAGACGCAACAGCAACCTGAGTCAGACCAGTAGGTCATCCCGGATGCTGGCAGTGTTTC
267607732	231606	NM_000249.3(MLH1):c.307-2A>G	MLH1	Aug 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	3	37004399	TTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCA
587780259	133666	NM_058216.2(RAD51C):c.706-2A>G	RAD51C	Jun 15, 2017	MedGen:C3150659,OMIM:613399;MedGen:C3150659,OMIM:613399;MedGen:C3150653,OMIM:613390;MedGen:C3150653,OMIM:613390;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 3;Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome;not provided	germline;maternal;unknown	17	58709857	AACAAATCTAATATTATCTCTTCTGTATTTAGGTTCGACTAGTGATAGTGGATGGTATTGC
137853221	31013	NM_000515.4(GH1):c.413A>G (p.Asp138Gly)	GH1	Sep 01, 1997	MedGen:C1849779,OMIM:262650,Orphanet:ORPHA629	Kowarski syndrome	germline	17	63917803	TGTACGGCGCCTCTGACAGCAACGTCTATGACCTCCTAAAGGACCTAGAGGAAGGCATCCA
137852476	25391	NM_000132.3(F8):c.104A>G (p.Tyr35Cys)	F8	Oct 15, 2002	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	155022449	ACCTGGGTGCAGTGGAACTGTCATGGGACTATATGCAAAGTGATCTCGGTGAGCTGCCTGT
786204836	172289	NM_003392.4(WNT5A):c.257A>G (p.Tyr86Cys)	WNT5A	Apr 24, 2015	MedGen:C0265205,OMIM:180700,SNOMED CT:76520005	Robinow syndrome	germline	3	55479448	CTCAAGGACAGAAGAAACTGTGCCACTTGTATCAGGACCACATGCAGTACATCGGAGAAGG
587777479	143173	NM_003108.3(SOX11):c.347A>G (p.Tyr116Cys)	SOX11	Jun 02, 2014	MedGen:C4014528,OMIM:615866	Mental retardation, autosomal dominant 27	germline	2	5693068	GGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAAT
121912975	31950	NM_000941.2(POR):c.1733A>G (p.Tyr578Cys)	POR	Jan 01, 2005	MedGen:C1860042,OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	germline	7	75985986	GCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGA
864621968	204424	NM_001114978.1(TP63):c.740A>G (p.His247Arg)	TP63	Jun 09, 2016	MedGen:C1858562,OMIM:604292;MedGen:CN517202	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;not provided	germline	3	189864392	TCACGGAGGTGGTGAAGCGGTGCCCCAACCATGAGCTGAGCCGTGAATTCAACGAGGGTAA
121918036	28569	NM_000174.4(GP9):c.110A>G (p.Asp37Gly)	GP9	May 01, 1993	MedGen:C1856448	Bernard-Soulier syndrome type C	germline	3	129061849	GCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCC
587776590	19399	NM_015629.3(PRPF31):c.527+3A>G	PRPF31	Mar 01, 2007	MedGen:C1838601,OMIM:600138	Retinitis pigmentosa 11	germline	19	54123563	TCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTA
137852362	25155	NM_000132.3(F8):c.5183A>G (p.Tyr1728Cys)	F8	Feb 01, 1990	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154928607	TTATTGCTGCAGTGGAGAGGCTCTGGGATTATGGGATGAGTAGCTCCCCACATGTTCTAAG
137853333	24466	NM_001014797.2(KCNMA1):c.1301A>G (p.Asp434Gly)	KCNMA1	Jul 01, 2005	MedGen:C1836173,OMIM:609446,Orphanet:ORPHA79137	Generalized epilepsy and paroxysmal dyskinesia	germline	10	77090433	TCCTGAAGGACTTTCTGCACAAGGACCGGGATGACGTCAATGTGGAGATCGTTTTTCTTCA
74315346	20406	NM_014625.3(NPHS2):c.479A>G (p.Asp160Gly)	NPHS2	Apr 01, 2000	MedGen:C1868672,OMIM:600995,Orphanet:ORPHA656	Nephrotic syndrome, idiopathic, steroid-resistant	germline	1	179559734	TAGGTCTTTTCTTTTTTTTGCCCTGCCTGGATACCTACCACAAGGTTGACCTTCGTCTCCA
111033294	53930	NM_004004.5(GJB2):c.617A>G (p.Asn206Ser)	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: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 specified	germline;unknown	13	20188965	TTGCAGTGTCTGGAATTTGCATCCTGCTGAATGTCACTGAATTGTGTTATTTGCTAATTAG
121434633	24166	NM_006180.4(NTRK2):c.2165A>G (p.Tyr722Cys)	NTRK2	Nov 01, 2004	MedGen:C3151303,OMIM:613886	Obesity, hyperphagia, and developmental delay	germline	9	84955510	GGATGTCCCGGGACGTGTACAGCACTGACTACTACAGGGTGAGTAGCTGTGCAGATCAGAG
121909803	30684	NM_000517.4(HBA2):c.1A>G (p.Met1Val)	HBA2	Sep 01, 1987	MedGen:CN077787	Hemoglobin H disease, nondeletional	germline	16	172913	TGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACG
886041732	264954	NM_004992.3(MECP2):c.325A>G (p.Lys109Glu)	MECP2	May 03, 2016	MedGen:CN517202	not provided	germline	X	154032259	ACCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAATCTGGCCGCTCTGCTGGGA
1057520757	370574	NM_018294.5(CWF19L1):c.850-2A>G	CWF19L1	Jun 16, 2015	MedGen:CN517202	not provided	germline	10	100245915	AACATTTAATCTTCTGCTTTTGGCCATTCCAGGAAGAATCAGCCTGTCAGTTTTTCTTTGA
587784120	168186	NM_022455.4(NSD1):c.4498-3A>G	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177248178	TACAGATGTGGGACATTATTTTTTCTTTGCAAGGGAGAACTAATGCCTCACAGGACGGCCA
137852420	25266	NM_000132.3(F8):c.1682A>G (p.Asp561Gly)	F8	Aug 15, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154957027	ATTACTCTAGTTTCGTTAATATGGAGAGAGATCTAGCTTCAGGACTCATTGGCCCTCTCCT
765368797	226065	NM_004134.6(HSPA9):c.383A>G (p.Tyr128Cys)	HSPA9	Jul 12, 2017	MedGen:C4225180,OMIM:616854	Even-plus syndrome	germline	5	138570987	ATGCTACCAAGCGTCTCATTGGCCGGCGATATGATGATCCTGAAGTACAGAAAGACATGTG
797044442	28658	NM_000293.2(PHKB):c.306-2A>G	PHKB	Dec 01, 1997	MedGen:C0543514,OMIM:261750,Orphanet:ORPHA79240	Glycogen storage disease IXb	germline	16	47502989	AATTAGTTTCATGAGTTATCTCTCTCACCCAGGCGAATTGATGATGACAAGGGAAGGACCC
121908376	20129	NM_015560.2(OPA1):c.1745A>G (p.Tyr582Cys)	OPA1	Jan 01, 2008	MedGen:C1852267,OMIM:125250,Orphanet:ORPHA1215	Autosomal dominant optic atrophy plus syndrome	germline	3	193648109	TTAACCTTGAAACTGAATGGAAGAATAACTATCCTCGCCTGCGGGAACTTGACCGGGTAAT
1085308041	416954	NM_000314.6(PTEN):c.1027-2A>G	PTEN	Sep 25, 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;paternal	10	87965285	GTGGGTTTTCATTTTAAATTTTCTTTCTCTAGGTGAAGCTGTACTTCACAAAAACAGTAGA
794726773	187825	NM_001165963.1(SCN1A):c.1662+3A>G	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166045040	TGAAAAGAGGTACTCCTCCCCACACCAGGTATGGCACTGCTGAGTTTACTGATGCATGGTT
62636300	38828	NM_000329.2(RPE65):c.1292A>G (p.Tyr431Cys)	RPE65	Feb 01, 2004	MedGen:C1859844,OMIM:204100;MedGen:CN517202	Leber congenital amaurosis 2;not provided	germline	1	68431328	TCAATTACCAGAAGTATTGTGGGAAACCTTACACATATGCGTATGGACTTGGCTTGAATCA
28936382	23779	NM_005263.3(GFI1):c.1208A>G (p.Lys403Arg)	GFI1	Jul 01, 2003	MedGen:C1842930,OMIM:607847,Orphanet:ORPHA2688	Neutropenia, nonimmune chronic idiopathic, of adults	germline	1	92476090	TCAAGCCCTTCGGCTGCGACCTCTGTGGGAAGGGTTTCCAGAGGAAGGTGGACCTCCGAAG
397515442	59596	NM_018972.2(GDAP1):c.368A>G (p.His123Arg)	GDAP1	Aug 18, 2016	MedGen:C1842983,OMIM:607831,Orphanet:ORPHA101097;MedGen:CN517202	Charcot-Marie-Tooth disease type 2K;not provided	germline	8	74360194	AAGAAAGCATGTATTACCCACGGGTACAACATTACCGAGAGCTGCTTGACTCCTTGCCAAT
137853215	31036	NM_002890.2(RASA1):c.1198A>G (p.Lys400Glu)	RASA1	Nov 01, 1993	MedGen:C3838465	Basal cell carcinoma, somatic	somatic	5	87349309	TTCCGGACCAATGAAAATATTCAGCGATTTAAAATATGTCCAACGCCAAACAATCAGTTTA
-1	432134	NM_000444.5(PHEX):c.591A>G (p.Gln197=)	PHEX	Nov 06, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline;maternal	X	22077630	TCTGCAGACACTTGCAACGTTTCGTGGTCAATACAGCAATTCTGTGTTCATCCGTTTGTAT
121908362	19864	NM_000441.1(SLC26A4):c.2168A>G (p.His723Arg)	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	107710132	TTAGAAAGGACACATTCTTTTTGACGGTCCATGATGCTATACTCTATCTACAGAACCAAGT
137853139	20764	NM_194456.1(KRIT1):c.410A>G (p.Asp137Gly)	KRIT1	Jun 01, 2002	MedGen:C1366911	Cerebral cavernous malformations 1	germline	7	92236488	CAGGATGCCCAATTTTTTACTGCTTACAAGATATTATGCGAGTCTGTAGTGAATCCAGTAC
730882252	181363	NM_006888.4(CALM1):c.389A>G (p.Asp130Gly)	CALM1	Mar 05, 2013	MedGen:C4015671,OMIM:616247	Long QT syndrome 14	germline	14	90404482	AAGAAGTAGATGAAATGATCAGAGAAGCAGATATTGATGGAGACGGACAAGTCAACTATGA
397517978	57552	NM_206933.2(USH2A):c.12067-2A>G	USH2A	May 10, 2016	MedGen:C3151138,OMIM:613809;MedGen:C1848634,OMIM:276901;MedGen:C1848634,OMIM:276901;MedGen:CN517202	Retinitis pigmentosa 39;Usher syndrome, type 2A;Usher syndrome, type 2A;not provided	germline	1	215680378	AACAACAACTTAACCTGTTAATTTTCTTACAGGGAACAAGCCATCAAGCCCACCTGTACGG
587783497	169226	NM_004380.2(CREBBP):c.4508A>G (p.Tyr1503Cys)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3736702	TACCCAAGCCAAAACGACTGCAGGAGTGGTACAAAAAGATGCTGGACAAGGCGTTTGCAGA
587781784	151199	NM_000314.6(PTEN):c.493-2A>G	PTEN	May 26, 2017	MedGen:CN072330,OMIM:158350;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Cowden syndrome 1;Hereditary cancer-predisposing syndrome;not provided	germline	10	87952116	AATTTGGCTTCTCTTTTTTTTCTGTCCACCAGGGAGTAACTATTCCCAGTCAGAGGCGCTA
28933074	31064	NM_000406.2(GNRHR):c.851A>G (p.Tyr284Cys)	GNRHR	Jan 01, 1998	Human Phenotype Ontology:HP:0000044,MedGen:C0271623,OMIM:146110,Orphanet:ORPHA181387,SNOMED CT:33927004	Hypogonadotropic hypogonadism 7 with or without anosmia	germline	4	67740616	CTTCATTTACTGTCTGCTGGACTCCCTACTATGTCCTAGGAATTTGGTATTGGTTTGATCC
397517146	54511	NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala)	SOS1	Aug 10, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN517202	Noonan syndrome;not provided	germline	2	39024080	GAAGACAAGGAATGTTTAAAACAAGCAATAACAGCTTTGCTTAATGTTCAGAGTGGTATGG
267606851	28685	NM_000175.4(GPI):c.1028A>G (p.Gln343Arg)	GPI	Sep 15, 1996	MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	germline	19	34394032	GTGAGACACACGCCATGCTGCCCTATGACCAGTACCTGCACCGCTTTGCTGCGTACTTCCA
112111568	369745	NM_003165.3(STXBP1):c.579-2A>G	STXBP1	May 28, 2015	MedGen:CN517202	not provided	germline	9	127665245	TGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTC
878854405	227837	NM_177433.2(MAGED2):c.991-2A>G	MAGED2	Sep 23, 2016	MedGen:C4310820,OMIM:300971	Bartter syndrome, type 5, antenatal, transient	germline	X	54812155	GTCATCTCACAAGCTGTTCTCCCCATCCACAGGTATTTGGGATTCAATTGAAGGAAATTGA
118192238	34666	NM_172107.3(KCNQ2):c.1764-2A>G	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63408538	AACTCATGCTTTGGGGTCTCTGTTCCCGGTAGAGTGGACCAGATCGTGGGGCGGGGCCCAG
104894816	25463	NM_002049.3(GATA1):c.653A>G (p.Asp218Gly)	GATA1	Apr 17, 2014	MedGen:C1845837,OMIM:300367,Orphanet:ORPHA67044;MedGen:C4016508	GATA-1-related thrombocytopenia with dyserythropoiesis;Thrombocytopenia, X-linked, without dyserythropoietic anemia	germline	X	48792377	GAGCAACAGCCACTCCACTGTGGCGGAGGGACAGGACAGGCCACTACCTATGCAACGCCTG
794729668	199858	NM_030973.3(MED25):c.116A>G (p.Tyr39Cys)	MED25	Jun 01, 2015	MedGen:C4225323,OMIM:616449,Orphanet:ORPHA464738	Basel-Vanagaite-Smirin-Yosef syndrome	germline	19	49818457	GACCCTACTTCGAGGGGCTCCGCAAGCACTACCTGCTCCCGGCCATCGAGTGAGTGCTGTT
121909574	32976	NM_001042425.1(TFAP2A):c.751A>G (p.Arg251Gly)	TFAP2A	Apr 01, 2010	MedGen:C0376524,OMIM:113620	Branchiooculofacial syndrome	de novo;germline	6	10404509	AACGCGTCGCTGCTGGGCGGAGTGCTCCGGAGGTGAGGCCCGGCACGGCCCCGCCCGCCCC
1057519326	361917	NM_000248.3(MITF):c.649A>G (p.Arg217Gly)	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	69956469	TGCTCTTTTCTTGAAGTTGAACGAAGAAGAAGATTTAACATAAATGACCGCATTAAAGAAC
794728365	197297	NM_000238.3(KCNH2):c.1129-2A>G	KCNH2	Aug 01, 2014	MedGen:CN517202	not provided	germline	7	150952855	CTCACCCACACCTCCGCCTTCCCCGGGTGCAGGTCCTGTCCCTGGGCGCCGACGTGCTGCC
-1	214854	NM_016218.3(POLK):c.1289A>G (p.Glu430Gly)	POLK	Jun 10, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75590373	GGACATTCAGTGAGATAAATAAAGCGGAAGAGCAATACAGCCTATGTCAAGAACTTTGCAG
796053135	201368	NM_021007.2(SCN2A):c.4036A>G (p.Ile1346Val)	SCN2A	Jun 12, 2014	MedGen:CN517202	not provided	germline	2	165374748	TCTATCATGAATGTACTTCTGGTTTGTCTGATCTTTTGGCTAATATTCAGTATCATGGGAG
28937590	21206	NM_001257342.1(BCS1L):c.232A>G (p.Ser78Gly)	BCS1L	Sep 20, 2017	MedGen:C1864002,OMIM:603358,Orphanet:ORPHA53693;MedGen:CN517202	GRACILE syndrome;not provided	germline;unknown	2	218661219	ACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGA
35518301	30126	NM_000519.3(HBD):c.-81A>G	HBD	Jan 01, 2005	MedGen:C4016190	Delta-plus-thalassemia	germline	11	5234514	GCTCACTGGAGCAGGGAGGACAGGACCAGCATAAAAGGCAGGGCAGAGTCGACTGTTGCTT
397507547	49032	NM_002834.4(PTPN11):c.1510A>G (p.Met504Val)	PTPN11	May 22, 2017	MedGen:CN230736;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202;MedGen:CN169374	Cardiovascular phenotype;Noonan syndrome;Rasopathy;not provided;not specified	germline;unknown	12	112489086	ATCCAGATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAGCACAGTACCGATTTA
199815268	172305	NM_001199252.2(SGO1):c.67A>G (p.Lys23Glu)	SGO1	Nov 01, 2014	MedGen:C4015474,OMIM:616201,Orphanet:ORPHA435988	Chronic atrial and intestinal dysrhythmia	germline	3	20183961	GATAGTCTTGAAGACATAAAGAAGCGAATGAAAGAGAAAAGGAATAAAAACTTGGCAGAGA
587776757	27041	NM_000151.3(G6PC):c.230+4A>G	G6PC	May 01, 1996	MedGen:C2919796,OMIM:232200	Glycogen storage disease type 1A	germline	17	42901110	AGACTGGCTCAACCTCGTCTTTAAGTGGTAAGAACCATATAGAGAGGAGATCAGCAAGAAA
587777215	108178	NM_001040436.2(YARS2):c.1303A>G (p.Ser435Gly)	YARS2	Jan 16, 2014	MedGen:C3150802,OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	germline	12	32747335	AGGTATCGAATGATAACAGAAGGCGGAGTCAGCATAAATCACCAACAAGTAACAAATCCTG
29001653	28069	NM_000539.3(RHO):c.886A>G (p.Lys296Glu)	RHO	Oct 01, 1992	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129532722	ATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCT
1057517765	359363	NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser)	MUTYH	Apr 12, 2016	MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	MYH-associated polyposis;not provided	germline	1	45332466	TGTGCCAGGCAACCGGTGTGGTGGATGGCAACGTAGCACGGGTGCTGTGCCGTGTCCGAGC
886042359	266494	NM_025114.3(CEP290):c.181-2A>G	CEP290	Aug 12, 2015	MedGen:C1857780,OMIM:610188;MedGen:C1970161,OMIM:611134	Joubert syndrome 5;Meckel syndrome type 4	germline	12	88139566	GCATATTGAAATAACCTTTTTTTAATGTTTAGATGAAAGCTCAAGAAGTGGAGCTGGCTTT
121434338	17061	NM_017780.3(CHD7):c.3082A>G (p.Ile1028Val)	CHD7	Aug 24, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline	8	60822627	CCTTTTTTAGTAATTGCCCCATTGTCCACAATCCCCAACTGGGAAAGGGAATTCCGAACCT
1131691089	420794	NM_001042492.2(NF1):c.3198-2A>G	NF1	Jun 02, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31232071	AAATTTTTTTTTTTTTTTTTTTTTTTTTTCAGAGATTTGGACCAGGCAAGCATGGAAGCAG
281860306	38772	NM_005247.2(FGF3):c.317A>G (p.Tyr106Cys)	FGF3	Sep 20, 2012	MedGen:C1853144,OMIM:610706,Orphanet:ORPHA90024	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	germline	11	69816327	ACCTGGCCATGAACAAGAGGGGACGACTCTATGCTTCGGTGAGTCCAGGCTGTCACGTGGG
886039282	259405	NM_198525.2(KIF7):c.3179A>G (p.Asn1060Ser)	KIF7	Dec 15, 2017	Gene:260403,MedGen:C1846722,OMIM:607131,Orphanet:ORPHA166024	Macrocephaly with multiple epiphyseal dysplasia and distinctive facies	germline	15	89630426	AGGCCCTGGATGCTGCCATTGAGTATAAGAATGAGGCCATCACATGCCGCCAGCGGGTGCT
193922515	68282	NM_000492.3(CFTR):c.2989-2A>G	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117610517	TACTCACCAACATGTTTTCTTTGATCTTACAGTTGTTATTAATTGTGATTGGAGCTATAGC
1114167341	260536	NM_001885.2(CRYAB):c.326A>G (p.Asp109Gly)	CRYAB	May 01, 2016	MedGen:C1861861,OMIM:115210	Familial restrictive cardiomyopathy 1	germline	11	111908966	CTGCCTCTTTCCTCATTCTTTTGGGTTAGGATGAACATGGTTTCATCTCCAGGGAGTTCCA
281875324	36165	NM_005359.5(SMAD4):c.989A>G (p.Glu330Gly)	SMAD4	Feb 24, 2014	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	18	51065456	CTGAGTATTGGTGTTCCATTGCTTACTTTGAAATGGATGTTCAGGTAGGAGAGACATTTAA
104893663	20451	NM_014585.5(SLC40A1):c.470A>G (p.Asp157Gly)	SLC40A1	Sep 01, 2003	MedGen:C1853733,OMIM:606069,Orphanet:ORPHA139491	Hemochromatosis type 4	germline	2	189571759	GTACTGCTACTGCAATCACAATCCAAAGGGATTGGATTGTTGTTGTTGCAGGAGAAGACAG
138081800	19186	NM_016327.2(UPB1):c.105-2A>G	UPB1	Nov 15, 2004	MedGen:C1291512,OMIM:613161,Orphanet:ORPHA65287,SNOMED CT:124511000	Deficiency of beta-ureidopropionase	germline	22	24500105	ATCCCCTTCCCTCTTTTTTCCTGCCCATCTAGGAAGCTTGATCTGCCCAGGGAAGCTTTCG
886039608	259624	NM_021222.2(PRUNE1):c.521-2A>G	PRUNE1	Sep 19, 2017	MedGen:CN243994,OMIM:617481;MedGen:CN517202	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies;not provided	germline	1	151025513	GATTCAAGTTCCACCATCTCCCTTCTCCACAGGAACCATCATCCTGGACTGTGTCAACATG
74315399	20355	NM_170784.2(MKKS):c.169A>G (p.Thr57Ala)	MKKS	Jan 01, 2001	MedGen:C1858054,OMIM:605231	Bardet-Biedl syndrome 6	germline	20	10413346	CACAATGGCTTTGGAGGTTACGTGTGTACAACCTCACAGTCCTCAGCTCTGCTCAGTCACC
79635528	22249	NM_000492.3(CFTR):c.3254A>G (p.His1085Arg)	CFTR	Nov 20, 2014	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117611695	AAACTCTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAAC
121912889	32428	NM_001844.4(COL2A1):c.4172A>G (p.Tyr1391Cys)	COL2A1	Dec 01, 2007	MedGen:C1835437,OMIM:151210,Orphanet:ORPHA85166;MedGen:C0796173,OMIM:271700,Orphanet:ORPHA1856	Platyspondylic lethal skeletal dysplasia Torrance type;Spondyloperipheral dysplasia	germline	12	47974234	TGTCCACGGAAGGCTCCCAGAACATCACCTACCACTGCAAGAACAGCATTGCCTATCTGGA
80358002	70234	NM_007294.3(BRCA1):c.5407-2A>G	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43047705	CTTTGAATGCTCTTTCCTTCCTGGGGATCCAGGGTGTCCACCCAATTGTGGTTGTGCAGCC
864309723	215786	NM_004991.3(MECOM):c.2816A>G (p.His939Arg)	MECOM	Dec 03, 2015	MedGen:C4225221,OMIM:616738	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	germline	3	169100918	TTTTTCCAAGGTCTGCAAACCTAACACGGCACTTGAGAACCCACACAGGAGAGCAGCCTTA
1057519640	362642	NM_015295.2(SMCHD1):c.1043A>G (p.His348Arg)	SMCHD1	Feb 27, 2017	MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135	Arhinia choanal atresia microphthalmia	de novo;germline;unknown	18	2697034	AGTATAAAATTATTCTTCTCTATTTTAGGCATATTTATCACTACTATATTCATGGCCCAAA
387907185	40326	NM_005850.4(SF3B4):c.1A>G (p.Met1Val)	SF3B4	Sep 07, 2012	Gene:171,MedGen:C0265245,OMIM:154400,SNOMED CT:35520007	Nager syndrome	germline;inherited	1	149927759	CTGCTGGGAGACGGCGGGATCTCTTTCGCCATGGCTGCCGGGCCGATCTCCGAGCGGAATC
137852582	24874	NM_000044.4(AR):c.2708A>G (p.Gln903Arg)	AR	May 25, 1995	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	germline	X	67723786	CGGAAATGATGGCAGAGATCATCTCTGTGCAAGTGCCCAAGATCCTTTCTGGGAAAGTCAA
1131690951	420699	NM_000455.4(STK11):c.374+1A>G	STK11	Feb 10, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	19	1218501	TGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCC
587781262	150246	NM_002764.3(PRPS1):c.343A>G (p.Met115Val)	PRPS1	Sep 03, 2014	MedGen:C1839566,OMIM:311070,Orphanet:ORPHA99014;MedGen:C1844677,OMIM:304500,OMIM:304590	Charcot-Marie-Tooth disease, X-linked recessive, type 5;Deafness, X-linked 1	germline;inherited	X	107640938	GCGCCAATCTCAGCCAAGCTTGTTGCAAATATGCTATCTGTAGCAGGTGCAGATCATATTA
1057517679	359128	NM_176869.2(PPA2):c.280A>G (p.Met94Val)	PPA2	Nov 23, 2016	MedGen:C4310664,OMIM:617222	Sudden cardiac failure, infantile	germline	4	105449391	TTTTGTTTTTAACTGCAGAATCTGTTTAATATGATTGTAGAAATACCTCGGTGGACAAATG
267607150	39425	NM_021625.4(TRPV4):c.1805A>G (p.Tyr602Cys)	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	109792671	TCACCCGTGGGCTGAAGCTGACGGGGACCTATAGCATCATGATCCAGAAGGTACGGGCTGG
121965018	15291	NM_000398.6(CYB5R3):c.719A>G (p.Asp240Gly)	CYB5R3	May 01, 2008	MedGen:C2749559	Methemoglobinemia, type I	germline	22	42623803	CTGCACGCTTCAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGGTGAGTGAGGGAGGCC
756826030	485965	NM_001145079.1(COG6):c.785A>G (p.Tyr262Cys)	COG6	Feb 22, 2018	MedGen:C3553230,OMIM:614576,Orphanet:ORPHA464443	Congenital disorder of glycosylation type 2L	germline	13	39682261	TGGAAGCCCTGCAGGACAGACCTGTCTTATATAAGTTGGTGACTTTTTCTTAATTAAAAAT
-1	446607	NM_000284.3(PDHA1):c.900-2A>G	PDHA1	Sep 18, 2017	MedGen:CN517202	not provided	germline	X	19358914	ACTGATCGATTACTACTTTTCCCTCCCCATAGTTACCGTACACGAGAAGAAATTCAGGAAG
376155665	167463	NM_002354.2(EPCAM):c.556-14A>G	EPCAM	Oct 10, 2016	MedGen:C2750737,OMIM:613217,Orphanet:ORPHA92050;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Diarrhea 5, with tufting enteropathy, congenital;Lynch syndrome	germline	2	47378939	GATTATATTAGTATTAATTTGTATTATTCAATTTTTTTCCCCAGTATGAGAATAATGTTAT
1135402753	424950	NM_025257.2(SLC44A4):c.466A>G (p.Met156Val)	SLC44A4	Jan 24, 2018	MedGen:CN381220,OMIM:617606	DEAFNESS, AUTOSOMAL DOMINANT 72	germline	6	31874723	AACTTTTGTCTGCCAGGGGTACCCTGGAATATGGTGAATATTGCCCCTAACCTCATCACTG
587783821	169982	NM_000252.2(MTM1):c.343-2A>G	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150619036	ACTGAACTGTCATACTTCTCCTTTGCCCCCAGGACATGAGAAACCTGAGGTTCGCTTTGAA
121964923	15223	NM_001385.2(DPYS):c.1001A>G (p.Gln334Arg)	DPYS	Sep 01, 1998	MedGen:C0342803,OMIM:222748,SNOMED CT:238014002	Dihydropyrimidinase deficiency	germline	8	104428071	GGACTGATAACTGCACTTTCAACACCTGCCAGAAAGCTCTTGGGAAGGATGATTTTACCAA
121918081	28480	NM_000371.3(TTR):c.205A>G (p.Thr69Ala)	TTR	Jan 01, 1992	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31595124	TTAATCCAGACTTTCACACCTTATAGGAAAACCAGTGAGTCTGGAGAGCTGCATGGGCTCA
796052624	203791	NM_172107.3(KCNQ2):c.611A>G (p.Gln204Arg)	KCNQ2	Sep 11, 2012	MedGen:CN517202	not provided	germline	20	63444738	CATCTGCGCTCCGGAGCCTGCGCTTCCTGCAGATTCTGCGGATGATCCGCATGGACCGGCG
587783072	166445	NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp)	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095;MedGen:CN517202	Atypical Rett syndrome;not provided	germline;unknown	X	18575419	CTTAAAATGCTTCGGACTCTCAAGCAGGAAAACATTGTGGAGTTGAAGGAAGCATTTCGTC
727505391	178396	NM_001110792.1(MECP2):c.520A>G (p.Arg174Gly)	MECP2	Dec 10, 2014	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	de novo	X	154031344	CCTAATGATTTTGACTTCACGGTAACTGGGAGAGGGAGCCCCTCCCGGCGAGAGCAGAAAC
1131692289	424542	NM_000280.4(PAX6):c.140A>G (p.Gln47Arg)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	de novo	11	31802705	CCCGGCCGTGCGACATTTCCCGAATTCTGCAGGTGATCCTCCCGGCGCCGCCCCACTCGCC
796051958	200072	NM_004453.3(ETFDH):c.929A>G (p.Tyr310Cys)	ETFDH	Aug 26, 2013	MedGen:CN517202	not provided	germline	4	158697656	ACAGACATACCTATGGAGGATCTTTCCTCTATCATTTGAATGAAGGTGAACCCCTAGTAGC
786204024	185773	NM_005957.4(MTHFR):c.1114A>G (p.Lys372Glu)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11794781	GTACGTCCCATCTTCTGGGCCTCCAGACCAAAGAGTTACATCTACCGTACCCAGGAGTGGG
-1	456312	NM_001080.3(ALDH5A1):c.610-2A>G	ALDH5A1	May 07, 2017	MedGen:C0268631,OMIM:271980,Orphanet:ORPHA22,SNOMED CT:49748000	Succinate-semialdehyde dehydrogenase deficiency	germline	6	24504867	CTCACATACTTCCTCTGCTCTTCTAACCCCAGTGGAATTTCCCCAGTGCCATGATCACCCG
104893920	19132	NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp)	SLC26A2	Jul 18, 2013	MedGen:C0265274,OMIM:600972,Orphanet:ORPHA93298,SNOMED CT:14870002;MedGen:C0220726,OMIM:222600,Orphanet:ORPHA628,SNOMED CT:58561002	Achondrogenesis, type IB;Diastrophic dysplasia	germline	5	149980866	AACCAGGAAATGTATGCCATTGGCTTTTGTAATATCATCCCTTCCTTCTTCCACTGTTTTA
199469656	39279	NM_003590.4(CUL3):c.1238A>G (p.Asp413Gly)	CUL3	Jan 22, 2012	MedGen:C3469606,OMIM:614496,Orphanet:ORPHA300530;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism type 2E;Pseudohypoaldosteronism, type 2	germline	2	224503791	TAACAGAACAAGAAGTAGAAACAATATTGGATAAAGCAATGGTCCTTTTTAGGTTTATGCA
387906444	25254	NM_000132.3(F8):c.1418A>G (p.Tyr473Cys)	F8	Oct 01, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154965995	ATGAATCAGGAATCTTGGGACCTTTACTTTATGGGGAAGTTGGAGACACACTGTTGGTAAG
878854402	227687	NM_024665.5(TBL1XR1):c.1337A>G (p.Tyr446Cys)	TBL1XR1	Nov 10, 2017	MedGen:C1865644,OMIM:602342	Pierpont syndrome	germline	3	177033050	ATACCTTGACAAAACACCAAGAGCCTGTGTACAGTGTAGCTTTCAGTCCTGATGGCAGGTA
-1	440113	NM_052844.3(WDR34):c.1060A>G (p.Thr354Ala)	WDR34	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	maternal	9	128634843	AGCTTTGACCCTAGGCTGTTCATTCTGGGCACGGAAGGCGGCTTCCCGCTCAAGTGTTCCC
587783553	169894	NM_178151.2(DCX):c.451A>G (p.Lys151Glu)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401244	AATGTCAATCCCAACTGGTCTGTCAACGTAAAAACATCTGCCAATATGAAAGCCCCCCAGT
1085307331	414284	NM_001204.6(BMPR2):c.1277-9A>G	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202542302	AGAAATTTTATTCTGTCATTCTTTTCTACAAATCCACAGGGGAATCCGTACCAGAGTACCA
121907908	18538	NM_024426.4(WT1):c.1021A>G (p.Ser341Gly)	WT1	Dec 01, 1993	MedGen:C0025500,Orphanet:ORPHA50251	Mesothelioma	somatic	11	32400025	TGTGTTTGCAGCCACAGCACAGGGTACGAGAGCGATAACCACACAACGCCCATCCTCTGCG
137852369	25179	NM_000132.3(F8):c.5821A>G (p.Asn1941Asp)	F8	Feb 01, 1990	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904083	CAGGCTTCTCTGTGTCCTTCTCCAGCAATCAATGGCTACATAATGGATACACTACCTGGCT
398123158	98350	NM_000117.2(EMD):c.450-2A>G	EMD	Nov 12, 2013	MedGen:CN517202	not provided	germline	X	154380880	CCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTG
34598529	30508	NM_000518.4(HBB):c.-50-29A>G	HBB	Jun 16, 2017	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	5227100	GCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTAC
1064795835	410241	NM_000747.2(CHRNB1):c.1A>G (p.Met1Val)	CHRNB1	May 27, 2017	MedGen:CN517202	not provided	germline	17	7445128	GAGCGAAGTCACTGAGCGAGCCGCCAGGCTATGACCCCAGGGGCTCTGCTGATGCTGCTGG
80338909	39008	NM_000459.4(TEK):c.2690A>G (p.Tyr897Cys)	TEK	Apr 01, 2010	MedGen:C1838437,OMIM:600195,Orphanet:ORPHA2451	Multiple Cutaneous and Mucosal Venous Malformations	germline	9	27212710	AGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCA
775440641	187231	NM_177405.2(ADA2):c.355A>G (p.Thr119Ala)	ADA2	Apr 07, 2015	MedGen:C0282492,OMIM:182410,Orphanet:ORPHA820,SNOMED CT:238776001	Idiopathic livedo reticularis with systemic involvement	germline	22	17188342	AAGCTGCCTTACTTCTTCCACGCCGGAGAAACAGGTGAGCCTGCGGGATGCGAGCAGAGGC
1131691608	422482	NM_001193416.2(DDX3X):c.1498-2A>G	DDX3X	Sep 14, 2015	MedGen:CN517202	not provided	germline	X	41346503	GTGGGCCATATCTCATAAAAGTTATTTTCCAGGTAGCAGCAAGAGGACTGGACATTTCAAA
120074145	17882	NM_000019.3(ACAT1):c.278A>G (p.Asn93Ser)	ACAT1	Jan 01, 1998	MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007	Deficiency of acetyl-CoA acetyltransferase	germline	11	108134260	AAGAAGAAGTGAAAGAAGCATACATGGGTAATGTTCTACAAGGAGGTGAAGGACAAGCTCC
121908331	19781	NM_013391.3(DMGDH):c.326A>G (p.His109Arg)	DMGDH	Sep 18, 2017	MedGen:C1853892,OMIM:605850,Orphanet:ORPHA243343;MedGen:CN517202	Dimethylglycine dehydrogenase deficiency;not provided	germline	5	79055859	TTCATCCTGGAATAAACTTGAAGAAAATACATTATGATAGCATCAAACTTTATGAGAAACT
527236035	152910	NM_004830.3(MED23):c.3638A>G (p.His1213Arg)	MED23	-	MedGen:C3280265,OMIM:614249	Mental retardation, autosomal recessive 18	inherited	6	131591361	TGAGTTGTAGCTATACGTTAGCTCTTGCACATGCTGTGTGGCACCATTCTAGCATCGGACA
121908064	19194	NM_000173.6(GP1BA):c.763A>G (p.Met255Val)	GP1BA	Apr 01, 1993	MedGen:C1280798,OMIM:177820,Orphanet:ORPHA52530,SNOMED CT:128115005	Pseudo von Willebrand disease	germline	17	4933367	GTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTG
863225277	214500	NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg)	OPA1	Jan 07, 2016	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009;MedGen:CN517202	Dominant hereditary optic atrophy;not provided	germline	3	193643625	AGAATCCTAATGCCATCATACTGTGTATTCAAGGTAAATCATATCAAAAGATTTTAATGTA
121913131	29883	NM_000183.2(HADHB):c.788A>G (p.Asp263Gly)	HADHB	May 01, 1996	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Mitochondrial trifunctional protein deficiency	germline	2	26279292	AGAAGGCACAGGATGAAGGACTCCTTTCTGATGTGGTACCCTTCAAAGTACCAGGTGAAAT
267608423	165869	NM_003159.2(CDKL5):c.100-2A>G	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	de novo	X	18564475	ATGACTTTCCTTCTGCTTCTTTTCCCTTGCAGGAAACACATGAAATTGTGGCGATCAAGAA
-1	438551	NM_001449.4(FHL1):c.502-2A>G	FHL1	Oct 31, 2017	MedGen:C1846010,OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	germline	X	136208453	ATCTGAATCCGGTGCTACACTCCCTGGTCTAGGCCATCACATCTGGAGGAATCACTTACCA
104893836	31062	NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg)	GNRHR	Oct 31, 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	67754019	CACTGGATGGGATGTGGAACATTACAGTCCAATGGTATGCTGGAGAGTTACTCTGCAAAGT
104894450	29029	NM_000270.3(PNP):c.383A>G (p.Asp128Gly)	PNP	Oct 01, 1992	MedGen:C0268125,OMIM:613179,Orphanet:ORPHA760,SNOMED CT:60743005	Purine-nucleoside phosphorylase deficiency	germline	14	20474870	GAGGGCTGAACCCCAAGTTTGAGGTTGGAGATATCATGCTGATCCGTGACCATATCAACCT
387906267	17008	NM_000022.3(ADA):c.219-2A>G	ADA	Nov 05, 1988	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Severe combined immunodeficiency due to ADA deficiency	germline	20	44626601	GGTTGTTCCCAACCCCTTTCTTCCCTTCCCAGGGGCTGCCGGGAGGCTATCAAAAGGATCG
398124633	31513	NM_000146.3(FTL):c.-160A>G	FTL	Feb 19, 2013	MedGen:C1833213,OMIM:600886,Orphanet:ORPHA163	Hyperferritinemia cataract syndrome	germline	19	48965348	CGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCT
121912498	29504	NM_001754.4(RUNX1):c.328A>G (p.Lys110Glu)	RUNX1	Feb 15, 2002	MedGen:C1832388,OMIM:601399,Orphanet:ORPHA71290	Familial platelet disorder with associated myeloid malignancy	germline	21	34886866	TCCGTGCTGCCTACGCACTGGCGCTGCAACAAGACCCTGCCCATCGCTTTCAAGGTACTGG
1064796827	411352	NM_001193416.2(DDX3X):c.1438A>G (p.Arg480Gly)	DDX3X	Oct 16, 2017	MedGen:CN517202	not provided	germline	X	41346351	AGCATCCATGGAGACCGTTCTCAGAGGGATAGAGAAGAGGCCCTTCACCAGTTCCGCTCAG
104894749	25877	NM_000054.4(AVPR2):c.614A>G (p.Tyr205Cys)	AVPR2	Aug 18, 2011	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	153906120	GCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGT
121434482	23112	NM_000430.3(PAFAH1B1):c.446A>G (p.His149Arg)	PAFAH1B1	Aug 14, 2001	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2670209	CTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGA
61748392	26864	NM_004992.3(MECP2):c.410A>G (p.Glu137Gly)	MECP2	Dec 01, 2003	MedGen:C1968550,OMIM:300055	Mental retardation, X-linked, syndromic 13	germline	X	154031418	CCCAGGGAAAAGCCTTTCGCTCTAAAGTGGAGTTGATTGCGTACTTCGAAAAGGTAGGCGA
199474662	24634	m.3251A>G	MT-TL1	Mar 01, 1996	MedGen:C4016616	Progressive external ophthalmoplegia, proximal myopathy, and sudden death	germline	MT	3251	ACAGGGTTTGTTAAGATGGCAGAGCCCGGTAATCGCATAAAACTTAAAACTTTACAGTCAG
786201291	182319	NM_000038.5(APC):c.221-2A>G	APC	Aug 25, 2017	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline	5	112767187	GTTGTATAAAAACTTGTTTCTATTTTATTTAGAGCTTAACTTAGATAGCAGTAATTTCCCT
199476103	29247	RMRP:n.71A>G	RMRP	Nov 22, 2016	MedGen:C1846796,Orphanet:ORPHA93347;MedGen:C0220748,OMIM:250250,Orphanet:ORPHA175,SNOMED CT:7720002;MedGen:C1834821,OMIM:250460;MedGen:CN517202	Anauxetic dysplasia;Metaphyseal chondrodysplasia, McKusick type;Metaphyseal dysplasia without hypotrichosis;not provided	germline;unknown	9	35657948	GACTCTGTTCCTCCCCTTTCCGCCTAGGGGAAAGTCCCCGGACCTCGGGCAGAGAGTGCCA
1057524663	378016	NM_003159.2(CDKL5):c.419A>G (p.Asn140Ser)	CDKL5	Feb 03, 2017	MedGen:CN517202	not provided	germline	X	18581906	ATCTTGACACTCCAGATATAAAACCAGAAAATCTCTTAATCAGCCACAATGATGTCCTAAA
397514038	31856	NM_001943.4(DSG2):c.1880-2A>G	DSG2	Jul 21, 2014	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	31541191	CCTTATCTGTGTTCAATTTTGTGTCTGTACAGTGGTACCACTTTTACTGCTGATGTGCCAT
397514480	40314	NM_000933.3(PLCB4):c.1868A>G (p.Tyr623Cys)	PLCB4	Sep 17, 2012	Gene:100381211,MedGen:C1865295,OMIM:602483;MedGen:C3553404,OMIM:614669	Auriculocondylar syndrome 1;Auriculocondylar syndrome 2	de novo;germline	20	9409086	GTTATAACAAACGGCAAATGAGTCGCATTTACCCCAAGGGAGGCCGAGTCGATTCCAGTAA
878854610	239135	NM_003242.5(TGFBR2):c.1271A>G (p.Tyr424Cys)	TGFBR2	Jan 23, 2016	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	3	30674121	TGTTTTTGCTATAGGTGGGAACTGCAAGATACATGGCTCCAGAAGTCCTAGAATCCAGGAT
1064793838	406155	NM_006218.3(PIK3CA):c.3131A>G (p.Asn1044Ser)	PIK3CA	Jul 20, 2015	MedGen:CN517202	not provided	germline	3	179234288	AGGCTTTGGAGTATTTCATGAAACAAATGAATGATGCACATCATGGTGGCTGGACAACAAA
104894919	26108	NM_001015877.1(PHF6):c.769A>G (p.Arg257Gly)	PHF6	Oct 01, 2004	MedGen:C0265339,OMIM:301900,SNOMED CT:21634003	Borjeson-Forssman-Lehmann syndrome	germline	X	134415055	TCTGGCACAGTCCAGCTCACAACAACATCAAGAGCAGAATTTGGAGACTTTGATATTAAAA
58536923	77404	NM_002055.4(GFAP):c.835A>G (p.Lys279Glu)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911743	GCCCGCAACGCGGAGCTGCTCCGCCAGGCCAAGCACGAAGCCAACGACTACCGGCGCCAGT
128626244	26290	NM_004006.2(DMD):c.2317A>G (p.Lys773Glu)	DMD	Jul 01, 1994	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32501818	CTGCAGGCCATAGAGCGAGAAAAAGCTGAGAAGTTCAGAAAACTGCAAGATGCCAGCAGAT
120074173	18212	NM_000187.3(HGD):c.1102A>G (p.Met368Val)	HGD	Dec 18, 2015	MedGen:C0002066,OMIM:203500,Orphanet:ORPHA56	Alkaptonuria	germline;unknown	3	120633233	CTGCCAGGGGGAGGGAGTCTACACAGCACAATGACCCCCCATGGACCTGATGCTGACTGCT
758746181	213928	NM_001414.3(EIF2B1):c.824A>G (p.Tyr275Cys)	EIF2B1	Feb 01, 2008	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	12	123621850	ACCTCAAAGAGGAGCATCCGTGGGTCGACTACACTGCCCCTTCCTTAATCACTCTGCTGTT
201738997	104999	NM_000350.2(ABCA4):c.1A>G (p.Met1Val)	ABCA4	Sep 23, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;Stargardt disease 1;not provided	germline	1	94121045	GACCAATCTGGTCTTCGTGTGGTCATTAGCATGGGCTTCGTGAGACAGATACAGCTTTTGC
120074123	18027	NM_000543.4(SMPD1):c.1154A>G (p.Asn385Ser)	SMPD1	Jan 01, 1992	MedGen:C0268243,OMIM:607616,Orphanet:ORPHA77293,SNOMED CT:39390005	Niemann-Pick disease, type B	germline	11	6393278	CCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTT
587783570	169872	NM_178151.2(DCX):c.607A>G (p.Thr203Ala)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401088	AAGGCTGTGCGTGTGCTTCTGAACAAGAAGACAGCCCACTCTTTTGAGCAAGTCCTCACTG
80359862	34086	NM_001017420.2(ESCO2):c.1132-7A>G	ESCO2	Sep 08, 2017	MedGen:C0392475,OMIM:268300,OMIM:269000,SNOMED CT:48718006;MedGen:CN517202	Roberts-SC phocomelia syndrome;not provided	germline	8	27788840	ATTTAAATGGGTTTCTTTTTTTACCCCCCAATTATAGGACGCTGGTCAGAAACATTTTGGG
104886385	35996	NM_000495.4(COL4A5):c.3605-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668317	ATTTATCTTCTAATTATACTTTACTTTCATAGGCCAAAAGGGTGATGGAGGATTACCTGGG
397514605	48414	NM_005465.4(AKT3):c.686A>G (p.Asn229Ser)	AKT3	Aug 08, 2016	MedGen:C1865285,OMIM:602501;MedGen:C4014738,OMIM:615937	Megalencephaly cutis marmorata telangiectatica congenita;Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	de novo;germline	1	243613681	ACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAGGTGAGTCAAGAAGTAAATCC
398123057	76393	NM_001651.3(AQP5):c.367A>G (p.Asn123Asp)	AQP5	Aug 08, 2013	MedGen:C1838359,OMIM:600231,Orphanet:ORPHA2337	Diffuse palmoplantar keratoderma, Bothnian type	germline	12	49963495	GGGTCCTAACCCGCTATCCCCTTGCAGCTCAACAACAACACAACGCAGGGCCAGGCCATGG
786200913	26379	NM_003588.3(CUL4B):c.901-2A>G	CUL4B	Feb 01, 2007	Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293	Syndromic X-linked mental retardation, Cabezas type	germline	X	120545519	ACTTGTTTGATTTCTTTTTTTTTCATTGGCAGATCATGATCAGGAGCATTTTTTTGTTTCT
121912677	33366	NM_005159.4(ACTC1):c.373A>G (p.Met125Val)	ACTC1	Jan 15, 2008	MedGen:C2748552,OMIM:612794	Atrial septal defect 5	germline	15	34793326	AAGGCCAACCGGGAGAAGATGACTCAGATCATGTTTGAGACCTTCAATGTCCCTGCCATGT
137853037	21509	NM_001430.4(EPAS1):c.1603A>G (p.Met535Val)	EPAS1	Apr 03, 2009	MedGen:C2673187,OMIM:611783	Erythrocytosis, familial, 4	germline	2	46380275	GACTTGGAGACACTGGCACCCTATATCCCCATGGACGGGGAAGACTTCCAGCTAAGCCCCA
121908497	20805	NM_004211.4(SLC6A5):c.1526A>G (p.Asn509Ser)	SLC6A5	Oct 04, 2012	MedGen:C3553288,OMIM:614618	Hyperekplexia 3	germline	11	20630717	CCAGGGACACTCTAATTGTCACCTGCACCAACAGTGCCACAAGCATCTTTGCCGGCTTCGT
121434396	21187	NM_003705.4(SLC25A12):c.1769A>G (p.Gln590Arg)	SLC25A12	Jul 30, 2009	MedGen:C2751855,OMIM:612949,Orphanet:ORPHA353217	Hypomyelination, global cerebral	germline	2	171787637	TTTCAGCTCGAGTGTTTCGATCCTCTCCCCAGTTTGGTGTTACCTTGGTCACTTATGAACT
387907351	57809	NM_032415.5(CARD11):c.401A>G (p.Glu134Gly)	CARD11	May 01, 2013	MedGen:CN231446,OMIM:616452	B-cell expansion with NFKB and T-cell anergy	germline	7	2944495	ACGAGGGCCTCACGCACTTCCTGATGAACGAGGTCATCAAGCTGCAGCAGCAGATGAAGGC
1060499810	389224	NM_182548.3(LHFPL5):c.1A>G (p.Met1Val)	LHFPL5	Jun 04, 2016	MedGen:C1853223,OMIM:610265	Deafness, autosomal recessive 67	germline	6	35805671	GACCCCAGCCCAGGGCCTGCTGCCCTCACCATGGTGAAATTGCTGCCGGCCCAGGAGGCAG
797044818	204299	NM_020533.2(MCOLN1):c.1406A>G (p.Asn469Ser)	MCOLN1	Jul 30, 2015	MedGen:C0238286,OMIM:252650,Orphanet:ORPHA578,SNOMED CT:111384001	Mucolipidosis type IV	germline	19	7530332	TGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGC
180177245	200519	NM_000030.2(AGXT):c.596-2A>G	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240873976	TCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAG
80356753	34353	NM_012463.3(ATP6V0A2):c.732-2A>G	ATP6V0A2	Sep 23, 2010	MedGen:C0268355,OMIM:219200,Orphanet:ORPHA357058,SNOMED CT:73856006	Cutis laxa with osteodystrophy	not provided	12	123735529	ATGTGAGACTGTGTTCAACTCTTGTCTTCCAGCTACCACTGCCACGTGTACCCCTATCCAA
376960358	38572	NM_001202.5(BMP4):c.362A>G (p.His121Arg)	BMP4	Oct 01, 2011	MedGen:C1864689,OMIM:607932,Orphanet:ORPHA139471	Microphthalmia syndromic 6	germline	14	53951861	CCAGCCGGGCCAACACCGTGAGGAGCTTCCACCACGAAGGTCAGTCTCTTCCCCCAGTCTG
398123339	98778	NM_000350.2(ABCA4):c.67-2A>G	ABCA4	Jun 12, 2016	Human Phenotype Ontology:HP:0000603,MedGen:C0152191;Human Phenotype Ontology:HP:0000608,MedGen:C0024437;Human Phenotype Ontology:HP:0001105,MedGen:C0521694;MeSH:C535804,MedGen:C1855465,OMIM:248200;Human Phenotype Ontology:HP:0000505,MedGen:C0042798,SNOMED CT:397540003	Central scotoma;Macular degeneration;Retinal atrophy;Stargardt disease 1;Visual impairment	germline;unknown	1	94113068	GAACTTTCTCTCTTTTTGTTTTGTTTTTCCAGATTCGCTTTGTGGTGGAACTCGTGTGGCC
1057516112	353991	NM_172107.3(KCNQ2):c.1118+3A>G	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63433806	AGCGAACGGTCACCGTGCCCATGTACAGGTACCGCCGCCGGGCACCTGCCACCAAGCAACT
66867430	103117	NM_000531.5(OTC):c.503A>G (p.His168Arg)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401391	CAATTATCAATGGGCTGTCAGATTTGTACCATCCTATCCAGATCCTGGCTGATTACCTCAC
370761964	38978	NM_172337.2(OTX2):c.674A>G (p.Asn225Ser)	OTX2	Nov 01, 2008	MedGen:C3151440,OMIM:613986	Pituitary hormone deficiency, combined 6	germline	14	56801931	CAGGGGCCACACTCAGTCCCATGGGTACCAATGCAGTCACCAGCCATCTCAATCAGTCCCC
121913492	362835	NM_002072.4(GNAQ):c.626A>G (p.Gln209Arg)	GNAQ	Oct 02, 2014	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Malignant melanoma	somatic	9	77794572	AACCTTGCAGAATGGTCGATGTAGGGGGCCAAAGGTCAGAGAGAAGAAAATGGATACACTG
864622773	222898	NM_000202.7(IDS):c.1433A>G (p.Asp478Gly)	IDS	May 22, 2013	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	maternal	X	149482966	GGCCTTCAGACATCCCTCAGTGGAATTCTGACAAGCCGAGTTTAAAAGATATAAAGATCAT
587779502	107169	NM_000090.3(COL3A1):c.3418-2A>G (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008033	TCTGGCATTGTGATGTCATGATACTTTCTTAGGGACCTGTTGGACCCAGTGGACCTCCTGG
767982852	243979	NM_014687.3(RUBCN):c.1642A>G (p.Thr548Ala)	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	197694417	AAGATCCGCCTTCGGCGCCAGCAAATCCGCACCAAGAACCTGCTCCCCATGTACCAGGAGG
760040426	178854	NM_016356.4(DCDC2):c.349-2A>G	DCDC2	Jan 08, 2015	MedGen:C4015542,OMIM:616217	Nephronophthisis 19	germline	6	24302046	TGGTTTATATTTTTTTTCCTTTGCTTTTAAAGGTAAAACCAGTAATCCATAGCAGGATCAA
371802902	200977	NM_203290.3(POLR1C):c.221A>G (p.Asn74Ser)	POLR1C	Jul 07, 2015	MedGen:C4225305,OMIM:616494	Leukodystrophy, hypomyelinating, 11	germline	6	43519412	ACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGT
268	16589	NM_000237.2(LPL):c.953A>G (p.Asn318Ser)	LPL	Sep 01, 1995	Human Phenotype Ontology:HP:0008158,MedGen:C0020474,OMIM:144250	Hyperlipidemia, familial combined	germline	8	19956018	ACCGCTGCAACAATCTGGGCTATGAGATCAATAAAGTCAGAGCCAAAAGAAGCAGCAAAAT
72556271	103108	NM_000531.5(OTC):c.482A>G (p.Asn161Ser)	OTC	May 22, 2015	MedGen:CN517202	not provided	germline;unknown	X	38401370	TGGCTAAAGAAGCATCCATCCCAATTATCAATGGGCTGTCAGATTTGTACCATCCTATCCA
724160005	172135	NM_014305.3(TGDS):c.892A>G (p.Asn298Asp)	TGDS	Jan 14, 2015	Gene:100862706,MedGen:C1844887,OMIM:616145,Orphanet:ORPHA1388	Catel Manzke syndrome	germline	13	94576404	TTAAATCTGTTTTGTTTTCCAAGACCCACCAATGACATGAGATACCCAATGAAGTCAGAAA
104894852	25810	NM_000169.2(GLA):c.1228A>G (p.Thr410Ala)	GLA	Mar 01, 2003	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101397871	ACTTCAAGGTTAAGAAGTCACATAAATCCCACAGGCACTGTTTTGCTTCAGCTAGAAAATA
28936379	23885	NM_000447.2(PSEN2):c.715A>G (p.Met239Val)	PSEN2	Aug 31, 1995	MedGen:C1847200,OMIM:606889;MedGen:CN517202	Alzheimer disease, type 4;not provided	germline	1	226888977	CAGGCCTACCTCATCATGATCAGTGCGCTCATGGCCCTAGTGTTCATCAAGTACCTCCCAG
727502787	165518	NM_001077494.3(NFKB2):c.2594A>G (p.Asp865Gly)	NFKB2	Dec 19, 2014	MedGen:C3809991,OMIM:615577,Orphanet:ORPHA293978	Common variable immunodeficiency 10	de novo;germline	10	102402267	CCCATTTACCCCCAGCAGAGGTGAAGGAAGACAGTGCGTACGGGAGCCAGTCAGTGGAGCA
397516815	49088	NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly)	RAF1	Jun 20, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	3	12585760	TCCATGAAGGCTTAACAGTGAAAATTGGAGATTTTGGTTTGGCAACAGTAAAGTCACGCTG
121909088	22316	NM_001005360.2(DNM2):c.1684A>G (p.Lys562Glu)	DNM2	Mar 01, 2005	MedGen:C2751367	Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia	germline	19	10819992	TTTTCCCTCCACCCTCAGGAGAAAGAGAAGAAGTACATGCTGCCTCTGGACAACCTCAAGA
387907354	59405	NM_005430.3(WNT1):c.624+4A>G	WNT1	May 07, 2013	MedGen:C3808844,OMIM:615220	Osteogenesis imperfecta, type xv	germline	12	48980693	CTTCACAACAACGAGGCAGGCCGTACGGTGAGCTTTGAGAGGCTCCGCACCCTAAGCGGAG
886040902	262997	NM_007294.3(BRCA1):c.-19-2A>G	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43124117	ATATATATATATGTTTTTCTAATGTGTTAAAGTTCATTGGAACAGAAAGAAATGGATTTAT
121917897	28175	NM_000536.3(RAG2):c.115A>G (p.Arg39Gly)	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	36594054	TTCTTCTTTGGACAAAAAGGCTGGCCCAAAAGATCCTGCCCCACTGGAGTTTTCCATCTGG
121918517	28289	NM_002739.4(PRKCG):c.1081A>G (p.Ser361Gly)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	germline	19	53898100	TTCAGCTTCCTCATGGTTCTAGGAAAAGGCAGTTTTGGGAAGGTTGGATTCCTGGGGTTCT
672601372	171796	NM_002887.3(RARS):c.5A>G (p.Asp2Gly)	RARS	Apr 29, 2014	MedGen:C4015323,OMIM:616140,Orphanet:ORPHA438114	Leukodystrophy, hypomyelinating, 9	germline	5	168486503	TTGGCGAGTGAGACGCTGATGGGAGGATGGACGTACTGGTGTCTGAGTGCTCCGCGCGGCT
397514595	48392	NM_001083614.1(EARS2):c.193A>G (p.Lys65Glu)	EARS2	Feb 01, 2013	MedGen:C3554079,OMIM:614924,Orphanet:ORPHA314051	Combined oxidative phosphorylation deficiency 12	germline	16	23552251	CGCACTGCCTTGTACAACTACATCTTTGCTAAGAAGTACCAGGGGAGCTTCATCCTGAGGC
118192146	76912	NM_000540.2(RYR1):c.14591A>G (p.Tyr4864Cys)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38580449	TGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGA
121908961	21717	NM_001130978.1(DYSF):c.5264A>G (p.Glu1755Gly)	DYSF	Apr 17, 2007	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71667376	TGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGG
773386777	360949	NM_025114.3(CEP290):c.3104-2A>G	CEP290	Jan 29, 2014	Human Phenotype Ontology:HP:0000077,MedGen:C0266292;Human Phenotype Ontology:HP:0002350,MedGen:C1847762;Human Phenotype Ontology:HP:0001320,MedGen:C1840379;Human Phenotype Ontology:HP:0004719,MedGen:C3275899;Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;Human Phenotype Ontology:HP:0000113,MedGen:C0022680	Abnormality of the kidney;Cerebellar cyst;Cerebellar vermis hypoplasia;Hyperechogenic kidneys;Joubert syndrome;Polycystic kidney dysplasia	unknown	12	88093977	CATGAGATTGACTTAAATATTATTGCATGTAGGTAATGAATCTAGCATGGATAAGGCAAAG
397514370	36358	NM_000060.4(BTD):c.583A>G (p.Asn195Asp)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644439	AGGTGCCCAAAAGATGGGAGATACCAGTTCAACACAAATGTCGTGTTCAGCAATAATGGAA
111033567	26917	NM_002769.4(PRSS1):c.68A>G (p.Lys23Arg)	PRSS1	Mar 01, 2012	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Hereditary pancreatitis	germline	7	142750582	CAGTTGCTGCCCCCTTTGATGATGATGACAAGATCGTTGGGGGCTACAACTGTGAGGAGAA
796053251	201152	NM_006516.2(SLC2A1):c.848A>G (p.Gln283Arg)	SLC2A1	Jun 23, 2013	MedGen:CN517202	not provided	germline	1	42929612	TCATCGCTGTGGTGCTGCAGCTGTCCCAGCAGCTGTCTGGCATCAACGCTGTGAGTGCCCC
879255518	178801	NM_005886.2(KATNB1):c.1A>G (p.Met1Val)	KATNB1	Feb 06, 2015	MedGen:C4015525,OMIM:616212	Lissencephaly 6, with microcephaly	germline	16	57737244	GTGGGGCTTCAGGTGCCAGCCAGCTGAAGGATGGCCACCCCTGTGGTCACCAAGACAGCCT
770791100	480596	NM_015312.3(KIAA1109):c.3986A>G (p.Tyr1329Cys)	KIAA1109	Jan 11, 2018	MedGen:CN737163,OMIM:617822	ALKURAYA-KUCINSKAS SYNDROME	germline	4	122239668	GAAGTACTAAGAGTCTTACTGCTGCTTTCTATGGGGACAAGCAGCCTGTAACAGTTGGAGT
1057517741	359698	NM_032119.3(ADGRV1):c.11122-2A>G	ADGRV1	Jul 16, 2015	MedGen:CN517202	not provided	germline	5	90753572	ATAAATAACATCTTCTTTCTTTAAAATTCTAGATTTTATTTACTGAAGGCCAGGTACTGTC
114216685	20677	NM_012415.3(RAD54B):c.1778A>G (p.Asn593Ser)	RAD54B	Dec 06, 2013	Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004	Malignant lymphoma, non-Hodgkin	somatic	8	94391640	TATGTATAGGAGCTCTTAAAAAACTGTGCAATCACCCCTGCCTTTTGTTCAACTCTATAAA
121907976	18970	NM_000520.5(HEXA):c.611A>G (p.His204Arg)	HEXA	Jan 01, 1993	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72351194	CGTACAATAAATTGAACGTGTTCCACTGGCATCTGGTAGATGATCCTTCCTTCCCATATGA
57983345	77688	NM_170707.3(LMNA):c.116A>G (p.Asn39Ser)	LMNA	May 12, 2017	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005;MedGen:CN043576;MedGen:CN517202	Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not provided	germline	1	156115034	TGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGT
199469627	106418	NM_017415.2(KLHL3):c.926A>G (p.Gln309Arg)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137639955	CTCCGGAGGTCATGATTGTGGTTGGCGGCCAGGCACCCAAGGCAATCCGCAGTGTGGAGTG
794728216	197703	NM_000138.4(FBN1):c.4337-2A>G	FBN1	Jun 14, 2013	MedGen:CN517202	not provided	germline	15	48470758	AAGTTTTTTGCTTTTTTCTCCCTCCCCCCAAGATATTGATGAGTGCTCCCTTCCGAACATC
782367133	248716	NM_004187.3(KDM5C):c.3068A>G (p.Lys1023Arg)	KDM5C	Aug 15, 2016	MedGen:CN238491	Smith-Magenis Syndrome-like	unknown	X	53195968	CTGTTCACCTGCCCAACATCCAGGCTCTCAAGGAGGCTCTTGCTAAGGCCCGGGCCTGGAT
72549402	272792	NM_003742.2(ABCB11):c.1445A>G (p.Asp482Gly)	ABCB11	Jun 23, 2016	MedGen:C2608083,OMIM:605479,Orphanet:ORPHA99961;MedGen:C1866138,OMIM:601847	Benign recurrent intrahepatic cholestasis 2;Progressive familial intrahepatic cholestasis 2	germline	2	168972040	GTTGTGCCCATGCTCTCTAGGTGACCGTGGATGGCCATGACATTCGCTCTCTTAACATTCA
281874756	35627	NM_000495.4(COL4A5):c.547-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108575908	TTTCATCATTTTCTTTACTCACTTTATAACAGGGCCTACCTGGTCCCACTGGTATACCAGG
1085307259	414197	NM_001204.6(BMPR2):c.794A>G (p.Glu265Gly)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202518994	ACAACATTGCCCGCTTTATAGTTGGAGATGAGAGAGTCACTGCAGATGGACGCATGGAATA
121918474	28357	NM_000313.3(PROS1):c.586A>G (p.Lys196Glu)	PROS1	Jun 14, 2016	MedGen:C2676728,OMIM:612336	Protein S deficiency	germline	3	93905799	TGTAAAAATGGTTTTGTTATGCTTTCAAATAAGAAAGATTGTAAAGGTAAGAGCAGGATGG
200198778	18260	NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)	POMT2	May 18, 2017	MedGen:C3150411,OMIM:613150;MedGen:C3150411,OMIM:613150;MedGen:C3150416,OMIM:613156;MedGen:C3150416,OMIM:613156;MedGen:C3150418,OMIM:613158,Orphanet:ORPHA206559;Human Phenotype Ontology:HP:0003560,MedGen:C1864711;MedGen:CN033898,OMIM:236670;MedGen:CN517202	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;Muscular dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;not provided	germline;unknown	14	77278764	TGATGGGCCGGGTCCTCTACTTCCACCACTACTTCCCAGCCATGCTCTTCTCAAGCATGTT
72554317	103012	NM_000531.5(OTC):c.155A>G (p.Glu52Gly)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367368	TTCTCACTCTAAAAAACTTTACCGGAGAAGAAATTAAATATATGCTATGGCTATCAGCAGA
587784191	168265	NM_022455.4(NSD1):c.6356A>G (p.Asp2119Gly)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177292051	CCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCA
786205896	190088	NM_194277.2(FRMD7):c.556A>G (p.Met186Val)	FRMD7	Jan 01, 2015	MedGen:C1839580,OMIM:310700	Infantile nystagmus, X-linked	maternal	X	132085670	CTGCTACTGGACATAGCAAGGAAGCTGGATATGTATGGCATCAGGCCTCACCCCGCCAGTG
-1	444565	NM_000141.4(FGFR2):c.1019A>G (p.Tyr340Cys)	FGFR2	Oct 12, 2017	MedGen:CN517202	not provided	germline	10	121517384	GGAATGTAACTTTTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTGGGAT
72558432	103191	NM_000531.5(OTC):c.717+3A>G	OTC	-	MedGen:CN517202	not provided	unknown	X	38408798	CAAGTTGGCAGAGCAGTATGCCAAAGAGGTATGCTCTTTACATGTAAAGCTATTATTGCCT
111033661	36476	NM_000155.3(GALT):c.253-2A>G	GALT	Jun 15, 2017	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN517202	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided	germline;unknown	9	34647490	AGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCT
121917869	29394	NM_012064.3(MIP):c.401A>G (p.Glu134Gly)	MIP	May 01, 2000	MedGen:C3809001,OMIM:615274	Cataract 15, multiple types	germline	12	56453715	CGGTGAGCGTGGGCCAGGCAACCACAGTGGAGATCTTCCTGACGCTCCAGTTCGTGCTCTG
397508266	68006	NM_000492.3(CFTR):c.1680-886A>G	CFTR	Aug 11, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117589467	TATAAACAGAGAATCCTATGTACTTGAGATATAAGTAAGGTTACTATCAATCACACCTGAA
794726816	187757	NM_001165963.1(SCN1A):c.3880-2A>G	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166009843	TTTATTAATTGTTATTATTTTTGTGTGTGCAGGTTTCATTGGTCAGTTTAACAGCAAATGC
779612399	225905	NM_017671.4(FERMT1):c.889A>G (p.Arg297Gly)	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6097592	GTCCGAATAAACCAACTCTATGAGCAAGCCAGGTGGGCCATTCTCTTAGAAGAAATTGATT
797044588	188167	NM_002055.4(GFAP):c.1085A>G (p.Glu362Gly)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44911278	TGCTCAATGTCAAGCTGGCCCTGGACATCGAGATCGCCACCTACAGGAAGCTGCTAGAGGG
267607759	95741	NM_000249.3(MLH1):c.546-2A>G	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline;unknown	3	37011818	TCTTTTCTTACTCTTTTGTTTTTCTTTTCCAGGTATTCAGTACACAATGCAGGCATTAGTT
587777098	102950	NM_052844.3(WDR34):c.1307A>G (p.Lys436Arg)	WDR34	Feb 10, 2014	MedGen:C3810200,OMIM:615633	Short-rib thoracic dysplasia 11 with or without polydactyly	germline	9	128634291	CTCCCTTGACTTCGCTGCAGCTCTCCCTCAAGTATCTGTTTGCTGTGCGCTGGTCCCCAGT
137852686	24059	NM_004387.3(NKX2-5):c.547A>G (p.Lys183Glu)	NKX2-5	Jul 15, 2005	MedGen:C1833590	Atrioventricular septal defect, somatic	somatic	5	173232997	AGCGTGCTGAAACTCACGTCCACGCAGGTCAAGATCTGGTTCCAGAACCGGCGCTACAAGT
72551351	27322	NM_000463.2(UGT1A1):c.1070A>G (p.Gln357Arg)	UGT1A1	May 01, 2002	MedGen:C0010324,OMIM:218800,Orphanet:ORPHA79234	Crigler Najjar syndrome, type 1	germline	2	233767922	ACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATT
137852901	17638	NM_058172.5(ANTXR2):c.1142A>G (p.Tyr381Cys)	ANTXR2	Apr 01, 2012	MedGen:C2745948,OMIM:228600,SNOMED CT:238861002,SNOMED CT:238867003	Hyaline fibromatosis syndrome	germline	4	79983915	AAAAGTGGCCAACTGTGGATGCTTCCTATTATGGTGGTCGAGGGGTTGGAGGAATTAAAAG
886043786	272258	NM_023073.3(CPLANE1):c.1372-2A>G	CPLANE1	May 17, 2016	MedGen:C2745997,OMIM:277170,Orphanet:ORPHA2754	Orofaciodigital syndrome 6	germline	5	37227394	CTCTTGGAAATCTTTCATCTTTTCTTCTTTAGCCAAAAGGCAAAGGACTGAACTTGCGATC
587777336	132635	NM_002234.3(KCNA5):c.143A>G (p.Glu48Gly)	KCNA5	May 01, 2013	MedGen:C2677106,OMIM:612240	Atrial fibrillation, familial, 7	germline	12	5044290	CGACGGCTGGGCTCAGCGATGGGCCCAAGGAGCCGGCGCCAAAGGGGCGCGGCGCGCAGAG
72558411	103162	NM_000531.5(OTC):c.613A>G (p.Met205Val)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403690	GGGGATGGGAACAATATCCTGCACTCCATCATGATGAGCGCAGCGAAATTCGGAATGCACC
387906362	22177	NM_000492.3(CFTR):c.3717+4A>G	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117627774	TCCTTCTCAATAAGTCCTGGCCAGAGGGTGAGATTTGAACACTGCTTGCTTTGTTAGACTG
364897	19353	NM_000157.3(GBA):c.680A>G (p.Asn227Ser)	GBA	Jun 02, 2017	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	155238215	CCTGGACATCACCCACTTGGCTCAAGACCAATGGAGCGGTGAATGGGAAGGGGTCACTCAA
121913566	29373	NM_005912.2(MC4R):c.185A>G (p.Asn62Ser)	MC4R	Mar 20, 2003	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline	18	60372165	TGACTCTGGGTGTCATCAGCTTGTTGGAGAATATCTTAGTGATTGTGGCAATAGCCAAGAA
121918291	17785	NM_004183.3(BEST1):c.707A>G (p.Tyr236Cys)	BEST1	Sep 01, 2009	MedGen:C1860406,OMIM:193220,Orphanet:ORPHA3086	Vitreoretinochoroidopathy	germline	11	61957457	CCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCT
886037887	248577	NM_138348.5(OTULIN):c.731A>G (p.Tyr244Cys)	OTULIN	Sep 01, 2016	MedGen:C4310614,OMIM:617099	Autoinflammation, panniculitis, and dermatosis syndrome	germline	5	14690175	TTCTAATGCTAAACAGAGCCATTGAACTATATAATGATAAAGAGAAAGGAAAGGAAGTACC
864309513	215039	NM_000434.3(NEU1):c.353-2A>G	NEU1	Jun 22, 2014	MedGen:C0455988,OMIM:236750,Orphanet:ORPHA363999,SNOMED CT:276509008;MedGen:C0268226,OMIM:256550	Non-immune hydrops fetalis;Sialidosis, type II	germline	6	31861452	CACTCTGGGTTTCTTCCTCCAATTTTTTTCAGGCAGCACATGGTCTCCTACAGCGTTCATT
762515973	260846	NM_019023.2(PRMT7):c.1159A>G (p.Arg387Gly)	PRMT7	Oct 17, 2016	MedGen:C4310689,OMIM:617157,Orphanet:ORPHA464288	Short stature, brachydactyly, intellectual developmental disability, and seizures	germline	16	68346248	CCTCGGTTTGGAGAGATCAATGACCAGGACAGAACTGATCGATACGTCCAGGCTCTGAGGA
1057518702	361266	NM_000284.3(PDHA1):c.292-23A>G	PDHA1	Jan 25, 2015	MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243	Pyruvate dehydrogenase E1-alpha deficiency	maternal	X	19351258	TATTTAGAAACATGTATCATATTGCCTCATAGTTTCTCCTTCCTCTAACACAGGAAGCTTG
1064797078	411523	NM_000094.3(COL7A1):c.1A>G (p.Met1Val)	COL7A1	Nov 29, 2017	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004;MedGen:CN517202	Recessive dystrophic epidermolysis bullosa;not provided	germline;paternal	3	48595159	GGTCCTAGCTGACGGCTTTTACTGCCTAGGATGACGCTGCGGCTTCTGGTGGCCGCGCTCT
756328339	193336	NM_003494.3(DYSF):c.3041A>G (p.Tyr1014Cys)	DYSF	Aug 05, 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	71570608	GACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCC
869312979	226861	NM_016937.3(POLA1):c.1375-354A>G	POLA1	Jul 18, 2016	Gene:5171,MedGen:C1845050,OMIM:301220,Orphanet:ORPHA85453	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	germline	X	24726579	TTCTGACAGTGGTGATGAAAAGTATTTTCAATGAGTTCCACTCTGTTGCTTTCATTCTTCT
-1	440156	NM_001080463.1(DYNC2H1):c.6271A>G (p.Asn2091Asp)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103179157	GGAGAAAGGATTCAGTTTGGCCCAAATGTTAACTTTGTATTTGAAACTCATGATTTAAGTT
730881002	49086	NM_002880.3(RAF1):c.1279A>G (p.Ser427Gly)	RAF1	Jul 10, 2014	MedGen:CN517202	not provided	germline	3	12590889	CTGGCAATTGTGACCCAGTGGTGCGAGGGCAGCAGCCTCTACAAACACCTGCATGTCCAGG
118192185	34626	NM_172107.3(KCNQ2):c.1A>G (p.Met1Val)	KCNQ2	Sep 28, 2017	MedGen:C1852587,OMIM:121200;MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN517202	Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy;not provided	germline	20	63472463	CCCGACCCGGGGCGCCTCCCGCCAGGCACCATGGTGCAGAAGTCGCGCAACGGCGGCGTAT
143946794	59840	NM_001946.3(DUSP6):c.566A>G (p.Asn189Ser)	DUSP6	May 02, 2013	MedGen:C3808981,OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia	germline	12	89350860	ACATCGAGTCTGACCTTGACCGAGACCCCAATAGTGCAACAGACTCGGATGGTAGTCCGCT
121909360	23674	NM_000163.4(GHR):c.594A>G (p.Glu198=)	GHR	Feb 01, 2002	MedGen:C0271568,OMIM:262500,Orphanet:ORPHA633,SNOMED CT:38196001	Laron-type isolated somatotropin defect	germline	5	42699978	GGTTCTGGAGTATGAACTTCAATACAAAGAAGTAAATGAAACTAAATGGAAAATGGTAAGA
121912443	29803	NM_000454.4(SOD1):c.140A>G (p.His47Arg)	SOD1	Jun 27, 2016	MedGen:C1862939,OMIM:105400;MedGen:CN517202	Amyotrophic lateral sclerosis type 1;not provided	germline	21	31663857	AAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATACAGCAGG
199472854	197344	NM_000238.3(KCNH2):c.296A>G (p.Tyr99Cys)	KCNH2	May 09, 2013	MedGen:CN517202	not provided	germline	7	150974722	CCGAGGAGCGCAAAGTGGAAATCGCCTTCTACCGGAAAGATGGTAGGAGCGGGCCGGGGCG
1131691557	421599	NM_004415.3(DSP):c.1A>G (p.Met1Val)	DSP	Sep 24, 2015	MedGen:CN517202	not provided	germline	6	7541916	GCTGAGCCGCTCTCCCGATTGCCCGCCGACATGAGCTGCAACGGAGGCTCCCACCCGCGGA
199472836	78078	NM_000238.3(KCNH2):c.128A>G (p.Tyr43Cys)	KCNH2	May 10, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150974890	ACGCTCGGGTGGAGAACTGCGCCGTCATCTACTGCAACGACGGCTTCTGCGAGCTGTGCGG
267608468	153550	NM_003159.2(CDKL5):c.380A>G (p.His127Arg)	CDKL5	Feb 13, 2015	MedGen:C2748910,Orphanet:ORPHA3095;MedGen:CN517202	Atypical Rett syndrome;not provided	de novo;germline	X	18579945	ATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTA
121913079	31542	NM_000043.5(FAS):c.695A>G (p.Tyr232Cys)	FAS	Feb 01, 1997	MedGen:C1866119	Autoimmune lymphoproliferative syndrome, type 1a	germline	10	89014137	TCTATTTTTCAGATGTTGACTTGAGTAAATATATCACCACTATTGCTGGAGTCATGACACT
200488568	65677	NM_002972.3(SBF1):c.4768A>G (p.Thr1590Ala)	SBF1	Jul 09, 2013	MedGen:C3695063,OMIM:615284,Orphanet:ORPHA363981	Charcot-Marie-Tooth disease, type 4B3	germline	22	50454858	TGGGAGTATGTGGACCGGCTGAGCAAGAGGACGCCTGTGTTCCACAATTACATGTATGCGC
80356778	24100	NM_001876.3(CPT1A):c.1361A>G (p.Asp454Gly)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	germline	11	68780737	CACACATGTGTGTTTCACGTAGGTGGTTTGACAAGTCGTTCACGTTTGTTGTCTTCAAAAA
58420087	30948	NM_006121.3(KRT1):c.1445A>G (p.Tyr482Cys)	KRT1	Apr 01, 1994	Human Phenotype Ontology:HP:0007475,MedGen:C0079153,OMIM:113800,Orphanet:ORPHA312,SNOMED CT:254167000;MedGen:CN517202	Bullous ichthyosiform erythroderma;not provided	germline	12	52676305	AGCTGGCCCTGGATCTGGAGATTGCCACCTACAGGACCCTCCTGGAGGGAGAAGAAAGCAG
397508464	68274	NM_000492.3(CFTR):c.293A>G (p.Gln98Arg)	CFTR	May 01, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN169374	Cystic fibrosis;not specified	germline	7	117530918	CCCTTTTGTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTC
767790696	246600	NM_000527.4(LDLR):c.2390-2A>G	LDLR	Nov 26, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11129511	AGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTC
1057519042	361715	NM_000141.4(FGFR2):c.1007A>G (p.Asp336Gly)	FGFR2	Sep 17, 2016	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008	Crouzon syndrome	germline	10	121517396	TTCTCTATATTCGGAATGTAACTTTTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAA
-1	481193	NM_001157.2(ANXA11):c.119A>G (p.Asp40Gly)	ANXA11	Jan 29, 2018	MedGen:CN778765,OMIM:617839	AMYOTROPHIC LATERAL SCLEROSIS 23	germline	10	80170852	CTCCGCCCAGCATGCCCCCCATCGGGCTGGATAACGTGGCCACCTATGCGGGGCAGTTCAA
1064796820	411346	NM_001193416.2(DDX3X):c.862A>G (p.Lys288Glu)	DDX3X	Mar 07, 2017	MedGen:CN517202	not provided	germline	X	41344126	TTGGCAGTACAGATCTACGAGGAAGCCAGAAAAGTAAGTATGAGTTCCAGTGATTATTAGC
875989867	227895	NM_000016.5(ACADM):c.742A>G (p.Arg248Gly)	ACADM	Feb 20, 2015	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline	1	75749452	TTAAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCTTCGAAGATGTGAAAGTGC
869025202	213913	NM_032682.5(FOXP1):c.1393A>G (p.Arg465Gly)	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	70977678	AACCAAGAATTTTATAAGAACGCAGAAGTTAGACCACCATTTACATATGCATCTTTAATTA
121912458	29821	NM_000454.4(SOD1):c.242A>G (p.His81Arg)	SOD1	Nov 01, 2002	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31667260	AATCCATCTGATGCTTTTTCATTATTAGGCATGTTGGAGACTTGGGCAATGTGACTGCTGA
869312149	214035	NM_000169.2(GLA):c.638A>G (p.Lys213Arg)	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	101400667	AGTGGCCTCTTTATATGTGGCCCTTTCAAAAGGTGAGATAGTGAGCCCAGAATCCAATAGA
121918465	28377	NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly)	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;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MedGen:CN517202	Astrocytoma;Colorectal Neoplasms;Juvenile myelomonocytic leukemia;Multiple myeloma;Neuroblastoma;Squamous cell carcinoma of lung;not provided	germline;somatic	12	112450407	ATGGAGGGGAGAAATTTGCCACTTTGGCTGAGTTGGTCCAGTATTACATGGAACATCACGG
33985472	30512	NM_000518.4(HBB):c.*113A>G	HBB	May 14, 2015	MedGen:C3841475;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000	Beta-plus-thalassemia;beta Thalassemia	germline	11	5225485	GGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCAATGATGTATT
267606573	49622	NM_003977.3(AIP):c.721A>G (p.Lys241Glu)	AIP	Jun 21, 2012	MedGen:C0346302,OMIM:102200,Orphanet:ORPHA96256,SNOMED CT:254957009	Somatotroph adenoma	not provided	11	67490391	ACGCCGCTGCTGCTCAACTACTGCCAGTGCAAGCTGGTGGTCGAGGAGTACTACGAGGTGC
387906738	38984	NM_001376.4(DYNC1H1):c.917A>G (p.His306Arg)	DYNC1H1	Jan 05, 2018	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C3280220,OMIM:614228,Orphanet:ORPHA284232;MedGen:C1834690,OMIM:158600,Orphanet:ORPHA209341	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, axonal, type 2O;Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant	germline	14	101980506	AAGTTCTCCTGACTCTGGATATCTTGAAACATGGCAAGCGCTTCCATGCCACCGTCAGTTT
104893849	18198	NM_172250.2(MMAA):c.620A>G (p.Tyr207Cys)	MMAA	Nov 26, 2002	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145646043	TGACTGAGTTATCAAGAGATATGAATGCATACATCAGGCCATCTCCTACTAGAGGAACTTT
1064793979	410781	NM_017671.4(FERMT1):c.1371+4A>G	FERMT1	Aug 19, 2015	MedGen:CN517202	not provided	germline	20	6087773	AATGAAATGTATTTGAGATGTGACCATGTGAGTAAAACCCCAAAAATATTAAGTCACTTCA
-1	439504	NM_016169.3(SUFU):c.527A>G (p.His176Arg)	SUFU	Nov 07, 2017	MedGen:CN596207,OMIM:617757	JOUBERT SYNDROME 32	germline	10	102592654	CTTTGGATAACAGTGAGTCAAGAATTCAGCACATGCTGCTGACAGAGGACCCACAGATGCA
775256658	214277	NM_153704.5(TMEM67):c.978+3A>G	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93780985	AAATTTCAGTTTTAAAGGAGAAAACCAGGTAAAAGTGTCTAATATCATTAGAGGATAACTA
387906644	38729	NM_002292.3(LAMB2):c.440A>G (p.His147Arg)	LAMB2	Jun 01, 2011	MedGen:C3280113,OMIM:614199,Orphanet:ORPHA306507	Nephrotic syndrome, type 5, with or without ocular abnormalities	germline	3	49132135	TGGACCTGGAGGCTGAGTTTCATTTCACACACCTCATTATGACCTTCAAGGTGCCTGCATA
397514568	48320	NM_178012.4(TUBB2B):c.767A>G (p.Asn256Ser)	TUBB2B	Feb 28, 2013	MedGen:C2750247,OMIM:610031	Polymicrogyria, asymmetric	germline	6	3225322	TGAACGCAGACCTGCGCAAGCTGGCGGTGAACATGGTGCCCTTCCCTCGCCTGCACTTCTT
187015338	170217	NM_012275.2(IL36RN):c.104A>G (p.Lys35Arg)	IL36RN	Nov 25, 2014	MedGen:C0343055,OMIM:614204,Orphanet:ORPHA247353	Pustular psoriasis, generalized	germline	2	113060926	AGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAGGTTGGTGATGAAACATGAC
875989952	228217	NM_024312.4(GNPTAB):c.3250-2A>G	GNPTAB	Aug 21, 2016	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	germline	12	101757659	GTGATATCTGATCTACTTATATTTTCTCATAGCCACCGGTCACTAAAAGTCTAGTAACAAA
1131692284	424547	NM_000280.4(PAX6):c.1A>G (p.Met1Val)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	de novo	11	31806411	GGAATCCCGCGGCCCCCAGCCAGAGCCAGCATGCAGAACAGTAAGTGCCTCTGGTCTTTCT
267607483	77316	NM_001927.3(DES):c.735+3A>G	DES	Oct 19, 2017	Human Phenotype Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED CT:699269005;MedGen:CN517202	Myofibrillar myopathy;not provided	germline	2	219420349	CGCGTTCCTTAAGAAAGTGCATGAAGAGGTATACCTTGGCCCCTCTTCCTGGGGTCACTGG
1057519639	362641	NM_015295.2(SMCHD1):c.1034A>G (p.Gln345Arg)	SMCHD1	Feb 27, 2017	Human Phenotype Ontology:HP:0000458,MedGen:C0003126,OMIM:301700;MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135	Anosmia;Arhinia choanal atresia microphthalmia	germline;maternal	18	2694687	TGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGTAAGTAATTATATTTGGCTTAGG
1064797087	411537	NM_001271010.1(FLI1):c.835A>G (p.Lys279Glu)	FLI1	Apr 25, 2017	MedGen:CN242283,OMIM:617443	Bleeding disorder, platelet-type, 21	germline	11	128810662	CTGAGCCGGGCCCTCCGTTATTACTATGATAAAAACATTATGACCAAAGTGCACGGCAAAA
121909766	21829	NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys)	DHCR7	Feb 15, 2002	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	germline	11	71437936	CAGCGGCTGCTTCTGTCTTGCAGGCCATCTACGTGATTGACTTCTTCTGGAACGAAACCTG
777295041	224714	NM_000203.4(IDUA):c.386-2A>G	IDUA	Feb 11, 2016	MedGen:C0023786,Orphanet:ORPHA579	Mucopolysaccharidosis type I	germline	4	1000880	GTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGC
369973784	16138	NM_000642.2(AGL):c.4260-12A>G	AGL	Mar 26, 2017	MedGen:C1968739;MedGen:C1968740;MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease IIIa;Glycogen storage disease IIIb;Glycogen storage disease type III	germline;unknown	1	99916398	CTGATCATCTTTTATTTAACTTAAATTTCAATCATTTTGCAGTGATATGGTTTACTGTGGA
863225135	214231	NM_001134831.1(AHI1):c.2687A>G (p.His896Arg)	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135427244	TCAAGTCACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGCATTCTGTGC
539590514	359938	NM_000448.2(RAG1):c.2974A>G (p.Lys992Glu)	RAG1	Jul 31, 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	36576278	TCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACC
-1	432884	NM_004360.4(CDH1):c.833-2A>G	CDH1	Dec 08, 2016	MedGen:CN517202	not provided	germline	16	68811682	GTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACA
587779682	107187	NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del)	COL3A1	Feb 06, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006935	TATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGG
80338704	22751	NM_000303.2(PMM2):c.563A>G (p.Asp188Gly)	PMM2	Dec 30, 2013	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002	Carbohydrate-deficient glycoprotein syndrome type I	germline	16	8813030	TCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAA
28933679	25327	NM_000132.3(F8):c.5600A>G (p.His1867Arg)	F8	Oct 01, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904511	ATGTCTTCCCTCCCTAGGAAAAAGATGTGCACTCAGGCCTGATTGGACCCCTTCTGGTCTG
5030860	15632	NM_000277.2(PAH):c.1241A>G (p.Tyr414Cys)	PAH	May 18, 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	102840474	CCACAATACCTCGGCCCTTCTCAGTTCGCTACGACCCATACACCCAAAGGATTGAGGTCTT
875989831	226045	NM_017819.3(TRMT10C):c.814A>G (p.Thr272Ala)	TRMT10C	Feb 08, 2018	MedGen:C4310773,OMIM:616974,Orphanet:ORPHA478042	Combined oxidative phosphorylation deficiency 30	germline	3	101565595	TATCAAGAAAAATGGGACAAATTGCTTTTAACATCAACAGAAAAGTCTCATGTAGATTTAT
199476183	17230	NM_207352.3(CYP4V2):c.1091-2A>G	CYP4V2	Jun 14, 2016	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	germline	4	186208863	TTCAGGTCATCTTATCTACTTGCTTTCATCAGGGAAGTCTGACCGTCCCGCTACAGTAGAA
81002886	46728	NM_000059.3(BRCA2):c.8633-2A>G	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32376668	TTAGTGAATTAATAATCCTTTTGTTTTCTTAGAAAACACAACAAAACCATATTTACCATCA
397514415	36414	NM_000060.4(BTD):c.1313A>G (p.Tyr438Cys)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645169	ACGAGAGGCCCACCTTATCCAAAGAGCTGTATGCCCTGGGGGTCTTTGATGGGCTTCACAC
63750643	33141	NM_000484.3(APP):c.2140A>G (p.Thr714Ala)	APP	May 28, 2002	MedGen:C1863052;MedGen:CN517202	Alzheimer disease, type 1;not provided	germline	21	25891793	GGACTCATGGTGGGCGGTGTTGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGA
398123217	98469	NM_000169.2(GLA):c.647A>G (p.Tyr216Cys)	GLA	Dec 18, 2012	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398939	AAGAGTCATATCTGTTTTCACAGCCCAATTATACAGAAATCCGACAGTACTGCAATCACTG
730880311	24098	NM_001698.2(AUH):c.263-2A>G	AUH	Dec 01, 2005	MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046,SNOMED CT:237950009	3-Methylglutaconic aciduria	germline	9	91356157	AAGTGCTTGTACTTTTTTTCCCCTTTAACTAGGAATTGTGGTGCTTGGAATAAACAGAGCT
-1	442415	NM_004006.2(DMD):c.7661-2A>G	DMD	Oct 19, 2015	MedGen:CN517202	not provided	germline	X	31679588	CTACTATATATTTATTTTTCCTTTTATTCTAGTTGAAAGAATTCAGAATCAGTGGGATGAA
786204926	187343	NM_000314.6(PTEN):c.254-2A>G	PTEN	Aug 20, 2014	MedGen:CN517202	not provided	germline	10	87933011	TTTCTTATTCTGAGGTTATCTTTTTACCACAGTTGCACAATATCCTTTTGAAGACCATAAC
886041286	264634	NM_004380.2(CREBBP):c.4439A>G (p.Asp1480Gly)	CREBBP	Sep 23, 2016	MedGen:CN517202	not provided	germline	16	3736771	ACATCTGGGCCTGTCCTCCAAGTGAAGGAGATGATTACATCTTCCATTGCCACCCACCTGA
398123203	190222	NM_000169.2(GLA):c.137A>G (p.His46Arg)	GLA	Jun 02, 2014	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101407767	TGGCAAGGACGCCTACCATGGGCTGGCTGCACTGGGAGCGCTTCATGTGCAACCTTGACTG
113994099	28534	NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys)	POLG	Apr 07, 2017	MedGen:C1834846,OMIM:157640;MedGen:C0751651,Orphanet:ORPHA68380	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Mitochondrial diseases	germline	15	89320883	ATGCCAAAATCTTCAACTACGGCCGCATCTATGGTGCTGGGCAGCCCTTTGCTGAGCGCTT
796051853	16067	NM_020223.3(FAM20C):c.1364-2A>G	FAM20C	Nov 01, 2007	MedGen:C1850106,OMIM:259775,Orphanet:ORPHA1832	Raine syndrome	germline	7	257003	CGAGCTGTGACACTTTCTGCCTCTCTCCGCAGGAAACATGGACCGTCACCACTACGAGACT
541910371	434040	NM_001006657.1(WDR35):c.3203A>G (p.Tyr1068Cys)	WDR35	Feb 06, 2018	MedGen:C3150874,OMIM:613610;MedGen:CN169374	Cranioectodermal dysplasia 2;not specified	germline	2	19914229	ATGAAGACATCATCCCTCCTGTGGAGATCTACTCTCTGCTAGCACTCTGCGCATGCGCCAG
113994180	34558	NM_024649.4(BBS1):c.1340-2A>G	BBS1	Oct 13, 2009	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004	Bardet-Biedl syndrome	not provided	11	66529817	CCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTA
398123010	48201	NM_007332.2(TRPA1):c.2564A>G (p.Asn855Ser)	TRPA1	Jan 30, 2013	MedGen:C3808667,OMIM:615040	Familial episodic pain syndrome 1	germline	8	72034369	TTTTTTTTTTTTACTTTTCTAGATTTGAAAATTGTGGAATTTTTATTGTTATGTTGGAGGT
28999114	33287	NM_001151.3(SLC25A4):c.311A>G (p.Asp104Gly)	SLC25A4	May 01, 2002	MedGen:C1836460,OMIM:609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	germline	4	185144963	AGTACAAGCAGCTCTTCTTAGGGGGTGTGGATCGGCATAAGCAGTTCTGGCGCTACTTTGC
104886193	35902	NM_000495.4(COL4A5):c.2746A>G (p.Ser916Gly)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108621871	CCACCAGGACCTTTGGGAATTCCTGGCAGGAGTGGTGTACCTGGTCTTAAAGGTAATAATC
587777730	165915	NM_032492.3(JAGN1):c.485A>G (p.Gln162Arg)	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	9893310	TGGTGTTGGCAGTGCAAGTGCATGCCTGGCAGTTGTACTACAGCAAGAAGCTCCTAGACTC
786205226	188138	NM_001987.4(ETV6):c.1252A>G (p.Arg418Gly)	ETV6	May 13, 2015	MedGen:C4015537,OMIM:616216	Thrombocytopenia 5	germline	12	11886025	AGGAAGGAGCCAGGACAAAGGCTTTTGTTCAGGTAGCACTTCCTTTTTCTCCTTTCCTTCT
1057519309	361832	NM_015213.3(DENND5A):c.1622A>G (p.Asp541Gly)	DENND5A	Apr 03, 2017	MedGen:C4310635,OMIM:617281	Epileptic encephalopathy, early infantile, 49	germline	11	9178907	ATGAGGTGTTTGTCATCCAACCCAGCCAGGATAAGGAATCCTGGTTTACCAACAGGGAGCA
1060505039	404680	NM_016532.3(INPP5K):c.277A>G (p.Met93Val)	INPP5K	Apr 04, 2017	MedGen:CN241833,OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	germline	17	1509784	CTCTCTCTCCTGCAGGTCTCCCATGTCCGTATGCAGGGGATCCTCTTACTGGTCTTTGCCA
267607498	77296	NM_001927.3(DES):c.1333A>G (p.Thr445Ala)	DES	Sep 25, 2013	MedGen:CN517202	not provided	germline	2	219425707	CAAAGGGGTTCTGAGGTCCATACCAAGAAGACGGTGATGATCAAGACCATCGAGACACGGG
387906826	39186	NM_004153.3(ORC1):c.380A>G (p.Glu127Gly)	ORC1	Feb 27, 2011	MedGen:CN030358,OMIM:224690	Meier-Gorlin syndrome 1	germline	1	52397707	ACCCGGCCTGTGACAGCAACATTAATGCGGAGACCATCATTGGCCTTGTTCGGGTAGGTGA
397518445	26097	NM_000252.2(MTM1):c.1261-10A>G	MTM1	Dec 13, 2017	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001;MedGen:CN517202	Severe X-linked myotubular myopathy;not provided	germline;maternal	X	150659654	CCCATTAATTAAAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAA
28940881	18846	NM_000372.4(TYR):c.1A>G (p.Met1Val)	TYR	Apr 17, 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	89177954	CCTGCAGACCTTGTGAGGACTAGAGGAAGAATGCTCCTGGCTGTTTTGTACTGCCTGCTGT
397508310	68066	NM_000492.3(CFTR):c.1826A>G (p.His609Arg)	CFTR	Feb 28, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117591993	CTAGGATTTTGGTCACTTCTAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTT
587782276	151881	NM_000051.3(ATM):c.3994-2A>G	ATM	Jun 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	108287598	ATTAAATATATTTTAATTTTGTGCCCTTGCAGATTGATCACTTATTCATTAGTAATTTACC
121913160	29753	NM_000208.3(INSR):c.1372A>G (p.Asn458Asp)	INSR	Sep 01, 2003	MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005	Leprechaunism syndrome	germline	19	7170648	ATCACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACA
879254714	245847	NM_000527.4(LDLR):c.902A>G (p.Asp301Gly)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107476	CCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAA
80357287	69099	NM_007294.3(BRCA1):c.1A>G (p.Met1Val)	BRCA1	Oct 13, 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	43124096	ATGTGTTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAG
561425038	133341	NM_002878.3(RAD51D):c.1A>G (p.Met1Val)	RAD51D	May 24, 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	35119613	CCCCTGGGGCTGTTCCGGCCTGCGGGGAACATGGGCGTGCTCAGGGTCGGACTGTGCCCTG
-1	487825	NM_004937.2(CTNS):c.853-2A>G	CTNS	Feb 02, 2017	MedGen:CN035091,Orphanet:ORPHA213,SNOMED CT:190681003	Cystinosis	germline	17	3659856	CCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCAC
121964967	15162	NM_000071.2(CBS):c.1150A>G (p.Lys384Glu)	CBS	Jan 01, 1997	MedGen:CN068394	Homocystinuria, pyridoxine-responsive	germline	21	43059299	GACTCGGTGACTCCCCCATCCCGCAGGACCAAGTTCCTGAGCGACAGGTGGATGCTGCAGA
886042846	268553	NM_001135659.2(NRXN1):c.3365-2A>G	NRXN1	Dec 02, 2015	MedGen:C3280479,OMIM:614325	Pitt-Hopkins-like syndrome 2	germline	2	50465563	AGAACCCAAGTTTCCTTTGGATTGTTTTGCAGGGCCCAGCACAACCTGCCAAGAGGACTCA
864321681	215791	NM_006494.3(ERF):c.1A>G (p.Met1Val)	ERF	Nov 01, 2015	Human Phenotype Ontology:HP:0004443,MedGen:C1833340,OMIM:600775	Craniosynostosis 4	germline	19	42254999	ATCGGGGCGCTTCGCCCCGGGCCCCCCAGCATGAAGACCCCGGCGGACACAGGTGGGGGCG
587776912	44148	NM_017565.3(FAM20A):c.813-2A>G	FAM20A	Jul 11, 2012	MedGen:C2931783,OMIM:204690,Orphanet:ORPHA1031,SNOMED CT:109477002	Enamel-renal syndrome	germline	17	68542811	CCTCAGATGGAACAGAGCTTCCTCTCTTGCAGGATTCTGGACTTCCGACGGGTGCCGCCAA
587777565	150448	NM_015599.2(PGM3):c.1352A>G (p.Gln451Arg)	PGM3	Jul 03, 2014	MedGen:C4014371,OMIM:615816,Orphanet:ORPHA443811	Immunodeficiency 23	germline;inherited	6	83171950	ATGCTCTCTATACAGATCTTCCAAACAGACAACTTAAAGTTCAGGTGTGAGAGAAACTTTA
587780073	133277	NM_000546.5(TP53):c.701A>G (p.Tyr234Cys)	TP53	Jun 16, 2017	MedGen:C0007112;MedGen:C0278701;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;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:0006740,MedGen:C0279680;MedGen:CN517202	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Adrenocortical carcinoma;Carcinoma of esophagus;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;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;Transitional cell carcinoma of the bladder;not provided	germline;somatic	17	7674262	AGGTTGGCTCTGACTGTACCACCATCCACTACAACTACATGTGTAACAGTTCCTGCATGGG
74315429	18368	NM_020436.4(SALL4):c.2663A>G (p.His888Arg)	SALL4	Jan 15, 2015	MedGen:C1623209,OMIM:607323,Orphanet:ORPHA93293	Duane-radial ray syndrome	germline	20	51788940	ACTTCTCGTCTGCTAGCGCTCTTCAGATCCACGAGCGGACTCACACTGGAGAGAAGCCTTT
367543015	51229	NM_000057.3(BLM):c.1088-2A>G	BLM	Mar 28, 2013	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006	Bloom syndrome	not provided	15	90760145	AGAAAAATATTAACAACATAATTATTTTATAGCTAGACAGATAAGTTTACAGCAGCAGCTT
786205436	178768	NM_003002.3(SDHD):c.275A>G (p.Asp92Gly)	SDHD	May 26, 2015	MedGen:C3532243;MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208	Fatal infantile mitochondrial cardiomyopathy;Mitochondrial complex II deficiency	germline	11	112088972	CTGCTTATTTGAATCCTTGCTCTGCGATGGACTATTCCCTGGCTGCAGCCCTCACTCTTCA
587779722	107242	NM_000090.3(COL3A1):c.1762-2A>G (p.Gly588_Gln605del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997163	GGATTAGTAAATACCGACCACTTCTTCTTTAGGGTGCTCCTGGTAAGAATGGAGAACGAGG
544203837	228119	NM_000527.4(LDLR):c.191-2A>G	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102662	TGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTC
587782455	187379	NM_000314.6(PTEN):c.802-2A>G	PTEN	May 26, 2017	MedGen:CN072330,OMIM:158350;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	Cowden syndrome 1;Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	germline	10	87960892	TTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATAC
28933386	28365	NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11	Aug 22, 2017	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:C0041409,OMIM:163950;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202;MedGen:CN169374	Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome;Noonan syndrome 1;Noonan syndrome 1;Noonan syndrome 1;Rasopathy;not provided;not specified	de novo;germline;maternal;unknown	12	112477719	AATGAGCCTGTTTCAGATTACATCAATGCAAATATCATCATGGTAAGCTTTGCTTTTCACA
387906810	39153	NM_153427.2(PITX2):c.262A>G (p.Lys88Glu)	PITX2	Mar 01, 2003	MedGen:C3714873,OMIM:180500	Axenfeld-Rieger syndrome type 1	germline	4	110618679	CCTTGCCCCAACCGCCCCCAGGTTTGGTTCAAGAATCGTCGGGCCAAATGGAGAAAGAGGG
1805010	29705	NM_000418.3(IL4R):c.223A>G (p.Ile75Val)	IL4R	May 14, 2015	MedGen:C1840084;MedGen:C4016232	Acquired immunodeficiency syndrome, slow progression to;Atopy, resistance to	germline	16	27344882	AGCCCCTGTGTCTGCAGAGCCCACACGTGTATCCCTGAGAACAACGGAGGCGCGGGGTGCG
387907132	40145	NM_016464.4(TMEM138):c.287A>G (p.His96Arg)	TMEM138	Jul 21, 2017	MedGen:C3280906,OMIM:614465;MedGen:CN517202	Joubert syndrome 16;not provided	germline	11	61366203	CTGTGTACTTTGCCCTCAGCATCTCCCTTCATGTCTGGGTCATGGTAAGAGTGGCAGTCTG
879253784	244086	NM_001127511.2(APC):c.-192A>G	APC	Jul 12, 2016	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112707526	GCGCATTGTAGTCTTCCCACCTCCCACAAGATGGCGGAGGGCAAGTAGCAAGGGGGCGGGG
144055758	44525	NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys)	CFTR	Mar 13, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN169374	Cystic fibrosis;not specified	germline	7	117610625	TGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACA
763615602	247473	NM_080916.2(DGUOK):c.137A>G (p.Asn46Ser)	DGUOK	Aug 18, 2016	na;MedGen:C4310735,OMIM:617068;MedGen:C4310733,OMIM:617070,Orphanet:ORPHA329314	MITOCHONDRIAL DNA DEPLETION SYNDROME 3;Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	not provided	2	73927047	GCGGGCCCCGAAGGCTCTCCATCGAAGGCAACATTGGTAAGGGCCGGAAAGCGGCTGCCAA
4784677	19615	NM_031885.3(BBS2):c.209A>G (p.Asn70Ser)	BBS2	Sep 21, 2001	MedGen:C4016908	Bardet-biedl syndrome 2/6, digenic	germline	16	56514589	GCCCCCTGGAATCTGATGTTTCTCTTCTCAGCATTAACCAGGCAGTCAGCTGTCTGACTGC
1057517726	359572	NM_000094.3(COL7A1):c.6176A>G (p.Glu2059Gly)	COL7A1	Apr 01, 2015	MedGen:CN517202	not provided	germline	3	48575343	GGGGTGTGGGAGAGGCAGGAAGGCCAGGAGAGAGGGTGAGGCTGGGGGCTGGCCAGGAGAG
121918466	28379	NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg)	PTPN11	Nov 08, 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:C1860991,OMIM:609942;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome;Noonan syndrome 1;Noonan syndrome 1;Noonan syndrome 3;Rasopathy;not provided	germline;unknown	12	112450416	AGAAATTTGCCACTTTGGCTGAGTTGGTCCAGTATTACATGGAACATCACGGGCAATTAAA
72554332	99126	NM_000531.5(OTC):c.238A>G (p.Lys80Glu)	OTC	Nov 05, 2012	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38369817	GATTTATAGTATTTGCCTTTATTGCAAGGGAAGTCCTTAGGCATGATTTTTGAGAAAAGAA
28934601	16940	NM_000060.4(BTD):c.755A>G (p.Asp252Gly)	BTD	Oct 27, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN517202	Biotinidase deficiency;not provided	germline;unknown	3	15644611	TCTTCACATGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTACAA
587784423	170159	NM_006306.3(SMC1A):c.616-2A>G	SMC1A	Feb 08, 2013	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009	Congenital muscular hypertrophy-cerebral syndrome	germline	X	53413140	GCACCCCTGCCACCATTCCCCTGTTTGCACAGGCTGACCGGTACCAGCGCCTGAAGGATGA
1057517746	360669	NM_003639.4(IKBKG):c.672-2A>G	IKBKG	Jul 25, 2016	MedGen:CN517202	not provided	germline	X	154561686	TGGTTTCTCCAGCAAAAGCTCCCTTTCCTCAGGAGGAAGCTGGCCCAGTTGCAGGTGGCCT
1064792853	40150	NM_177965.3(C8orf37):c.156-2A>G	C8orf37	Jan 13, 2012	MedGen:C3281045,OMIM:614500	Cone-rod dystrophy 16	germline	8	95263776	GTAAGTTTTCTTTGTGTATGTCTTCTTTTCAGATCAACAGAAACATTTAAAAAAGAAGATG
398123046	76331	NM_001070.4(TUBG1):c.275A>G (p.Tyr92Cys)	TUBG1	Jun 01, 2013	MedGen:C3809420,OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	germline	17	42610535	ATGCCAAGCTCTACAACCCAGAGAACATCTACCTGTCGGAACATGGAGGAGGAGCTGGCAA
863225054	213947	NM_000264.4(PTCH1):c.1502A>G (p.Gln501Arg)	PTCH1	Sep 28, 2015	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002	Gorlin syndrome	maternal	9	95477548	TCGGAATTTCCTTTAACGCTGCAACAACTCAGGTACTAAAGGAGCCATTTATCTGCTGTCC
121434466	24641	m.4269A>G	MT-TI	Jul 15, 1992	MedGen:C4016613	Cardiomyopathy, fatal	germline	MT	4269	CTCCAGCATTCCCCCTCAAACCTAAGAAATATGTCTGATAAAAGAGTTACTTTGATAGAGT
864309488	200399	NM_015895.4(GMNN):c.50A>G (p.Lys17Arg)	GMNN	Dec 03, 2015	MedGen:C1868684,Orphanet:ORPHA2554;MedGen:C4225188,OMIM:616835	Meier-Gorlin syndrome;Meier-gorlin syndrome 6	de novo;germline	6	24777296	AGAAACAAGAAGAAATCAAAGAGAATATAAAGGTATGTGATTGAATAACTTTAATTTTTTT
80356731	20274	NM_007375.3(TARDBP):c.1028A>G (p.Gln343Arg)	TARDBP	Apr 01, 2008	MedGen:C2677565,OMIM:612069	Amyotrophic lateral sclerosis type 10	germline	1	11022437	GTTGGGGTATGATGGGCATGTTAGCCAGCCAGCAGAACCAGTCAGGCCCATCGGGTAATAA
199474663	24635	m.3260A>G	MT-TL1	Mar 01, 1994	MedGen:CN069301	Cardiomyopathy with or without skeletal myopathy	germline	MT	3260	GTTAAGATGGCAGAGCCCGGTAATCGCATAAAACTTAAAACTTTACAGTCAGAGGTTCAAT
121918473	28356	NM_000313.3(PROS1):c.773A>G (p.Asn258Ser)	PROS1	Oct 01, 1995	MedGen:C2676728,OMIM:612336	Protein S deficiency	germline	3	93898524	CTGAGAACATGTGTGCTCAGCTTTGTGTCAATTACCCTGGAGGTTACACTTGCTATTGTGA
199473690	38637	NM_001130823.2(DNMT1):c.1532A>G (p.Tyr511Cys)	DNMT1	Apr 12, 2016	MedGen:C3279885,OMIM:614116,Orphanet:ORPHA456318;MedGen:CN517202	Hereditary sensory neuropathy type IE;not provided	germline;unknown	19	10155017	AATACATTCTGATGGATCCCAGTCCCGAGTATGCGCCCATATTTGGGCTGATGCAGGAGAA
121918075	28458	NM_000371.3(TTR):c.401A>G (p.Tyr134Cys)	TTR	Oct 01, 1992	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31598632	GCTACACCATTGCCGCCCTGCTGAGCCCCTACTCCTATTCCACCACGGCTGTCGTCACCAA
137852320	25414	NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)	G6PD	May 24, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na;na;na;na	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD IOWA;G6PD IOWA CITY;G6PD SPRINGFIELD;G6PD WALTER REED	germline	X	154532698	GTGGCCGGCGACATCTTCCACCAGCAGTGCAAGCGCAACGAGCTGGTGATCCGCGTGCAGC
797045674	208928	NM_000425.4(L1CAM):c.2351A>G (p.Tyr784Cys)	L1CAM	Aug 14, 2014	MedGen:CN221283	Hydrocephalus due to aqueductal stenosis	germline	X	153866729	TGGTGTCCAACACGTCCACCTTCGTGCCCTATGAGATCAAAGTCCAGGCCGTCAACAGCCA
62321379	227153	NM_001163436.2(TBCK):c.2060-2A>G	TBCK	Jun 20, 2016	MedGen:C4225161,OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	germline;paternal	4	106171272	TACATTTGCTTTTTTAAAACATTTCTATCTAGAAATTGACATTGAACGCTGTGTGAGAGAA
772395858	195739	NM_020166.4(MCCC1):c.640-2A>G	MCCC1	Mar 22, 2017	MedGen:CN028786,OMIM:210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	germline	3	183071122	TGTTGTAGTCATAATCATCTTTTCTCTCTTAGGGAATGAGGATTGTTAGATCAGAACAAGA
-1	444020	NM_183050.3(BCKDHB):c.275-2A>G	BCKDHB	Jan 21, 2016	MedGen:CN517202	not provided	germline	6	80129159	ATAAAATGTATTATTTAAATACTGTTTTTCAGTAATATTTGGTGAAGATGTTGCCTTTGGT
199476106	24730	m.14495A>G	MT-ND6	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	14495	GTATATCCAAAGACAACCATCATTCCCCCTAAATAAATTAAAAAAACTATTAAACCCATAT
118204022	16620	NM_139281.2(WDR36):c.1064A>G (p.Asn355Ser)	WDR36	Mar 15, 2005	MedGen:C1835933,OMIM:609887	Glaucoma 1, open angle, G	germline	5	111104342	AGCCACTTCTTGTCACAAATGGCGCTGACAATGCTCTTAGGGTATTATGATTATTGTTAAC
140547520	45723	NM_005022.3(PFN1):c.350A>G (p.Glu117Gly)	PFN1	Aug 23, 2012	MedGen:C3553719,OMIM:614808	Amyotrophic lateral sclerosis 18	germline	17	4945973	CTCCAGCGCTAGTCCTGCTGATGGGCAAAGAAGGTGTCCACGGTGGTTTGATCAACAAGAA
-1	17599	NM_024079.4(ALG8):c.96-2A>G	ALG8	Jul 01, 2004	MedGen:C2931002,OMIM:608104,Orphanet:ORPHA79325	Congenital disorder of glycosylation type 1H	germline	11	78127438	TCTCATTTTATTTATCTAATTGTTTTGAGTAGCCATTCCACAGATTTTGAAGTACACCGAA
28936397	23423	NM_000557.4(GDF5):c.517A>G (p.Met173Val)	GDF5	Feb 01, 2004	Human Phenotype Ontology:HP:0009373,MedGen:C1862103,OMIM:113100,Orphanet:ORPHA93384	Type C brachydactyly	germline	20	35437412	CGCCCACCCCCCATCACACCCCACGAGTACATGCTCTCGCTGTACAGGACGCTGTCCGATG
397514711	71461	NM_002163.2(IRF8):c.238A>G (p.Thr80Ala)	IRF8	Jul 14, 2011	MedGen:C3808589,OMIM:614893,Orphanet:ORPHA319600	Immunodeficiency 32a	germline	16	85909053	GGGGACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTACGCTGTGCTTTGAATAAGAGCC
869312968	226906	NM_006303.3(AIMP2):c.575-2A>G	AIMP2	Jun 12, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	7	6023301	GTGATGCTACCTGGCGTGTTTTTTCTTTTCAGTGCCGAAGACGCAGATGAAATTCAGCATC
121912732	32831	NM_170665.3(ATP2A2):c.2300A>G (p.Asn767Ser)	ATP2A2	Oct 01, 2015	MedGen:C1852296;MedGen:CN517202	Darier disease, acral hemorrhagic type;not provided	germline	12	110342430	AACAGTTCATCCGCTACCTCATCTCGTCCAACGTCGGGGAAGTTGTCTGGTAGGTCTCTGT
886041091	263820	NM_006180.4(NTRK2):c.1301A>G (p.Tyr434Cys)	NTRK2	Jan 22, 2018	MedGen:CN757795,OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	de novo;germline	9	84751990	TAACCACCCTCCCTTCCTTTCTCTAGGTCTATGCTGTGGTGGTGATTGCGTCTGTGGTGGG
121913684	28897	NM_000222.2(KIT):c.2386A>G (p.Arg796Gly)	KIT	Jan 06, 1998	MedGen:C4016294	Piebaldism with sensorineural deafness	germline	4	54733094	TAATAGTGTATTCACAGAGACTTGGCAGCCAGAAATATCCTCCTTACTCATGGTCGGATCA
886039383	260234	NM_000516.5(GNAS):c.971-2A>G	GNAS	Jan 27, 2016	MedGen:CN517202	not provided	germline	20	58910332	ATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGC
886041683	264854	NM_000444.5(PHEX):c.1701-2A>G	PHEX	May 31, 2016	MedGen:CN517202	not provided	germline	X	22219034	AATTGTCTCCAAATTATGTATTAATGCCATAGATCTCTGAGTTATGGTGCTATAGGAGTAA
372660425	221555	NM_001182.4(ALDH7A1):c.584A>G (p.Asn195Ser)	ALDH7A1	Apr 05, 2017	MedGen:C1849508,OMIM:266100;MedGen:CN517202	Pyridoxine-dependent epilepsy;not provided	germline	5	126577145	TAGGCCTGGTTGGAATCATCACGGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAA
148639841	98208	NM_000019.3(ACAT1):c.472A>G (p.Asn158Asp)	ACAT1	Aug 04, 2017	MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007;MedGen:CN517202	Deficiency of acetyl-CoA acetyltransferase;not provided	germline	11	108138934	ATGGTGGCAGGTGGGATGGAGAGCATGTCCAATGTTCCATATGTAATGAACAGAGGATCAA
879254519	245553	NM_000527.4(LDLR):c.419A>G (p.Glu140Gly)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105325	CAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCC
587784470	169444	NM_001083962.1(TCF4):c.991-2A>G	TCF4	Apr 01, 2013	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896	Pitt-Hopkins syndrome	germline	18	55260029	GGGTGTTTTTTTTTTCTCCTTATTGTTTTAAGATCTATTCTCCAGATCACACTAACAACAG
28936381	23778	NM_005263.3(GFI1):c.1145A>G (p.Asn382Ser)	GFI1	Jul 01, 2003	MedGen:C2751288,OMIM:613107	Severe congenital neutropenia 2, autosomal dominant	germline	1	92476153	TGTGCGGCAAGGCATTCAGCCAGAGCTCCAACCTCATCACCCACAGCCGCAAACACACAGG
786205608	189062	NM_153704.5(TMEM67):c.1413-2A>G	TMEM67	Aug 01, 2016	MedGen:CN517202	not provided	germline	8	93787842	TGATTACTATAAATGCATTTTCTTTTAAATAGTGTCCACCTTGTACCCAACACAATAAATG
33915112	30593	NM_000518.4(HBB):c.80A>G (p.Glu27Gly)	HBB	May 01, 1996	na	Hb aubenas	germline	11	5226942	GCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACA
797045946	206781	NM_006642.4(SDCCAG8):c.221-2A>G	SDCCAG8	Apr 29, 2015	MedGen:C3150877,OMIM:613615	Senior-Loken syndrome 7	germline	1	243270976	AGGTTAATAAACCCTCTGCTTTTGCTCTATAGTTAATCAGCTCAAAGATTTGTTGCGCCAA
1085308047	416934	NM_000314.6(PTEN):c.40A>G (p.Arg14Gly)	PTEN	Mar 01, 2017	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	PTEN hamartoma tumor syndrome;not provided	germline;maternal	10	87864509	ATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAG
74315420	16229	NM_001029871.3(RSPO4):c.194A>G (p.Gln65Arg)	RSPO4	Nov 01, 2006	MedGen:C0265998,OMIM:206800,Orphanet:ORPHA79143,SNOMED CT:23610003	Anonychia	germline	20	968024	TCCTGTTCATCCGCCGGGAAGGCATCCGCCAGTACGGCAAGTGCCTGCACGACTGTCCCCC
879253801	214887	NM_000282.3(PCCA):c.284A>G (p.Asp95Gly)	PCCA	Jan 01, 2011	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100112045	TGGGCATTAAGACAGTTGCCATCCACAGTGATGTTGATGCTAGTTCTGTAAGTATATTTTT
137854492	26634	NM_001363.4(DKC1):c.1069A>G (p.Thr357Ala)	DKC1	May 01, 2005	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154773163	ATTGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAAGATCA
200449378	424688	NM_181507.1(HPS5):c.285-10A>G	HPS5	Aug 02, 2017	MedGen:C3888004,OMIM:614074	Hermansky-Pudlak syndrome 5	germline	11	18310943	CACTGTTGCCACGTTTGCCTCTGTGACTCAATTCTTGCAGTCAAGGTCTTGTGGTTGTTTG
148924904	133271	NM_000546.5(TP53):c.488A>G (p.Tyr163Cys)	TP53	Jul 13, 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;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;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;MedGen:C0280630;MedGen:CN517202	Adenocarcinoma of lung;Brainstem glioma;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 lung;Squamous cell carcinoma of the head and neck;Uterine Carcinosarcoma;not provided	germline;somatic	17	7675124	CCGGCACCCGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACATGACGGAGGTTGT
1057519576	362391	NM_001733.4(C1R):c.905A>G (p.Tyr302Cys)	C1R	Aug 23, 2016	Gene:791254,MedGen:C0268347,OMIM:130080,Orphanet:ORPHA75392,SNOMED CT:50869007	Ehlers-Danlos syndrome, type 8	germline	12	7088850	CGGGGGACAGCCGGGGCTGGAAGCTGCGCTACACCACCGAGAGTAAGGCTCCCTGCAGGCC
397516439	52764	NM_000546.5(TP53):c.920-2A>G	TP53	May 15, 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	7673610	ACTTTTATCACCTTTCCTTGCCTCTTTCCTAGCACTGCCCAACAACACCAGCTCCTCTCCC
199422224	29270	NM_005006.6(NDUFS1):c.755A>G (p.Asp252Gly)	NDUFS1	May 19, 2017	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline	2	206145009	ATGTGTTTCTCAGAAAGACAGAATCCATTGATGTAATGGATGCGGTTGGAAGTAATATTGT
797044545	181177	NM_001242896.1(DEPDC5):c.2355-2A>G (p.Arg785_Gly839del)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31838683	CATCTGTATGAGCAATCATCTGTTGTTTTCAGGAGGGACGAAGATGGTGTGCAGATGACAG
886041591	264943	NM_005027.3(PIK3R2):c.1126A>G (p.Lys376Glu)	PIK3R2	Aug 28, 2017	MedGen:CN517202	not provided	germline	19	18162983	CTCTCCTCCCCCAGGAAAGGCGGGAACAATAAGCTGATCAAGGTCTTCCACCGAGATGGGC
886039768	260411	NM_021815.4(SLC5A7):c.143A>G (p.Asp48Gly)	SLC5A7	Oct 07, 2016	MedGen:C4310694,OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	germline	2	107988298	GCAGCGAAGCCATCATAGTTGGTGGCCGAGATATTGGTTTATTGGTTGGTGGATTTACCAT
886041602	265059	NM_005027.3(PIK3R2):c.1690A>G (p.Lys564Glu)	PIK3R2	Apr 01, 2016	MedGen:CN517202	not provided	germline	19	18167260	AGAGAGATCGACAAGCGCATGAACAGCCTCAAGCCGGACCTCATGCAGCTGCGCAAGATCC
886037877	247770	NM_013417.3(IARS):c.2974A>G (p.Asn992Asp)	IARS	Aug 31, 2016	MedGen:C4310720,OMIM:617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	germline	9	92243242	GTAGATGAAGGAATGGCTCGGGAAGTCATCAATCGCATACAGAAACTTCGCAAAAAGGTTA
1131692153	424375	NM_017780.3(CHD7):c.5405-2A>G	CHD7	May 05, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	not applicable	8	60850491	GTGTTTTCTGTGCACGGATGGGCACGGCACAGGCTATGAGAAGTACAACTCCATGCGAGCT
128620184	26382	NM_000061.2(BTK):c.1288A>G (p.Lys430Glu)	BTK	Apr 01, 2012	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101356845	AAATGGAGAGGCCAGTACGACGTGGCCATCAAGATGATCAAAGAAGGCTCCATGTCTGAAG
886044726	237698	NM_000350.2(ABCA4):c.1357-2A>G	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline;unknown	1	94077889	GCAGAGCAGTGACTGTATTTCTTCTTCCCAAGGATACCCTGGGGAACCCAACAGTAAAAGA
104886461	20170	NM_020533.2(MCOLN1):c.406-2A>G	MCOLN1	Oct 30, 2017	MedGen:C0238286,OMIM:252650,Orphanet:ORPHA578,SNOMED CT:111384001;MedGen:CN517202	Mucolipidosis type IV;not provided	germline;unknown	19	7526759	GACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGG
794727994	196415	NM_001098398.1(COPA):c.728A>G (p.Asp243Gly)	COPA	Jun 01, 2015	MedGen:C4225334,OMIM:616414,Orphanet:ORPHA444092	Autoimmune interstitial lung, joint, and kidney disease	germline;inherited	1	160314104	GTCCTTCAGAATCAAAGGCATGGGAGGTTGATACCTGCCGGGGCCATTACAACAATGTATC
863224166	211195	NM_020381.3(PDSS2):c.877-2A>G	PDSS2	Nov 28, 2012	MedGen:CN517202	not provided	germline	6	107210572	CACTAATTTACTCATTTAATTGCTTCTTGTAGATAAATTCTGATGTCCAGCCTTTTATTAA
80356621	23710	NM_000525.3(KCNJ11):c.509A>G (p.Lys170Arg)	KCNJ11	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	germline	11	17387583	ACGCCATCATGCTTGGCTGCATCTTCATGAAGACTGCCCAAGCCCACCGCAGGGCTGAGAC
1013079991	359023	NM_032667.6(BSCL2):c.574-2A>G	BSCL2	Dec 08, 2016	MedGen:C1720863,OMIM:269700	Congenital generalized lipodystrophy type 2	germline	11	62692475	CCTGACGCCACCCTCACCCCACCCCCTCACAGTACGTGCCGACCACTGGAGCGATCATTGA
386833441	70598	NM_000100.3(CSTB):c.169-2A>G	CSTB	Nov 25, 2014	MedGen:C0751785,OMIM:254800,Orphanet:ORPHA308,SNOMED CT:230423006	Unverricht-Lundborg syndrome	germline	21	43774332	CAGAGGCTTCGCTCACTCCGCTCTCTTCCCAGGTGCACGTCGGCGACGAGGACTTCGTACA
281865495	47596	NM_004614.4(TK2):c.562A>G (p.Thr188Ala)	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	66517192	ACCTCAGTTTACCTTCGGACCAATCCTGAGACTTGTTACCAGAGGTTAAAGAAGAGATGCA
33940051	30600	NM_000518.4(HBB):c.247A>G (p.Lys83Glu)	HBB	Jul 01, 1997	na	Hb gambara	germline	11	5226645	AGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGC
879254800	246002	NM_000527.4(LDLR):c.1124A>G (p.Tyr375Cys)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111577	GCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCT
-1	480763	NM_021911.2(GABRB2):c.908A>G (p.Lys303Arg)	GABRB2	Jan 22, 2018	MedGen:CN757794,OMIM:617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	germline	5	161331052	GGGAAACTCTCCCTAAAATCCCCTATGTGAAGGCCATTGACATGTACCTGATGGGGTGCTT
587784299	203932	NM_001184880.1(PCDH19):c.695A>G (p.Asn232Ser)	PCDH19	Jun 23, 2015	MedGen:CN517202	not provided	germline	X	100407903	TTGGCCTTAGTATCAAGGTGACCGACTCCAATGACAACAACCCGGTGTTTAGCGAGTCCAC
1057518247	359398	NM_000096.3(CP):c.147-2A>G	CP	Nov 21, 2016	MedGen:CN517202	not provided	germline	3	149212700	TTCTGATAGAGTTGTCTTGTTTTTCTTTGCAGGGAACATTCCAATATCTATCTTCAAAATG
794726849	187872	NM_001165963.1(SCN1A):c.433A>G (p.Met145Val)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166056451	ATGTGCACTATTTTGACAAACTGTGTGTTTATGACAATGAGTAACCCTCCTGATTGGACAA
199422149	34417	NM_018136.4(ASPM):c.2761-25A>G	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197128690	TTATAAGCAAAATTATAATATTGGAATATAATATCTGGAACTTATTTCTTTATAGGCTAGT
121912297	47549	NM_001363.4(DKC1):c.196A>G (p.Thr66Ala)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154765931	TTGTAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGCATGTGGTT
-1	443767	NM_022455.4(NSD1):c.6170A>G (p.Asn2057Ser)	NSD1	Jul 27, 2017	MedGen:CN517202	not provided	germline	5	177288837	TCTCTTATGCAGGCACTGAACTTACCTTCAACTACAACCTAGAATGTCTTGGGAATGGAAA
1064794270	404981	NM_003000.2(SDHB):c.287-2A>G	SDHB	Mar 17, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	1	17028738	GTGAGGATGTGTTAAATGTGTGTCTCTTTCAGGCATCTGTGGCTCTTGTGCAATGAACATC
878853099	237389	NM_000425.4(L1CAM):c.992-2A>G	L1CAM	Feb 03, 2015	MedGen:CN517202	not provided	germline	X	153869936	CGGGCTCAGGGCGGCTCTCCCCTTCCTCCCAGCTGCCCCGTACTGGCTGCACAAGCCCCAG
80356696	32577	NM_000083.2(CLCN1):c.1655A>G (p.Gln552Arg)	CLCN1	May 11, 2017	MedGen:C0027127,Orphanet:ORPHA206973;MedGen:C0270959;MedGen:CN517202	Myotonia congenita;Myotonia levior;not provided	germline	7	143342001	CAGCTGTGATTTGCTTCGAATTAACGGGTCAGATTGCTCACATCCTGCCCATGATGGTGGC
863225290	214546	NM_003159.2(CDKL5):c.353A>G (p.Gln118Arg)	CDKL5	Jul 01, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo	X	18579918	CACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAA
727504370	176031	NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys)	MAP2K2	May 09, 2017	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Cardio-facio-cutaneous syndrome;Rasopathy;not provided	germline	19	4110558	AATGCAACTCGCCGTACATCGTGGGCTTCTACGGGGCCTTCTACAGTGACGGGGAGATCAG
-1	441384	NM_005271.4(GLUD1):c.956A>G (p.Tyr319Cys)	GLUD1	Mar 24, 2017	MedGen:CN517202	not provided	germline	10	87061018	TTGGTAATGTGGGCCTACACTCTATGAGATATTTACATCGTTTTGGTGCTAAATGTATTGC
81002823	66913	NM_000059.3(BRCA2):c.7008-2A>G	BRCA2	Oct 17, 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	32354859	CAATAAACTTATATATTTTCTCCCCATTGCAGCACAACTAAGGAACGTCAAGAGATACAGA
80356653	24143	NM_000352.4(ABCC8):c.4270A>G (p.Ile1424Val)	ABCC8	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	germline	11	17395647	CTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGTCCTCTTCAGCGGCA
104894279	15522	NM_000317.2(PTS):c.347A>G (p.Asp116Gly)	PTS	Jun 29, 2016	MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13;MedGen:CN068421	6-pyruvoyl-tetrahydropterin synthase deficiency;Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency	germline	11	112233464	CGACTGAAAATGTAGCTGTTTATATCTGGGACAACCTCCAGAAAGTTCTTCCTGTAGGAGT
72555361	15968	NM_000404.3(GLB1):c.947A>G (p.Tyr316Cys)	GLB1	May 01, 1992	MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007	Infantile GM1 gangliosidosis	germline	3	33051766	ACATGTTTATAGGTGGGACCAATTTTGCCTATTGGAATGGTAAGAGCACTTTAATATCTGT
398123068	102594	NM_024531.4(SLC52A2):c.914A>G (p.Tyr305Cys)	SLC52A2	Mar 17, 2015	MedGen:C3553538,OMIM:614707	Brown-Vialetto-Van Laere syndrome 2	germline	8	144360406	CTGCCGTGCAGAGCTTTTCCTGCTTACCCTACGGGCGTCTGGCCTACCACCTGGCTGTGGT
137854479	31499	NM_000138.4(FBN1):c.2261A>G (p.Tyr754Cys)	FBN1	Jun 01, 2016	MedGen:CN229799;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan syndrome	germline	15	48497298	GGACCTATAAATGTATATGCAATTCAGGATATGAAGTGGATTCAACTGGGAAAAACTGCGT
368587966	202956	NM_002693.2(POLG):c.2636A>G (p.Gln879Arg)	POLG	Mar 05, 2014	MedGen:CN517202	not provided	germline	15	89321223	GAGTAGGCAGTGAGTTGAAAGCCATGGTGCAGGCCCCACCTGGCTACACCCTTGTGGGTGC
794726844	187849	NM_001165963.1(SCN1A):c.1046A>G (p.Tyr349Cys)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	inherited	2	166047751	ACCCCACTTGCAGCCAATGTCCAGAGGGATATATGTGTGTGAAAGCTGGTAGAAATCCCAA
104894830	25756	NM_000169.2(GLA):c.886A>G (p.Met296Val)	GLA	Nov 23, 2015	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:C1970820	Fabry disease;Fabry disease, cardiac variant	germline	X	101398483	CTCTGGGCTATCATGGCTGCTCCTTTATTCATGTCTAATGACCTCCGACACATCAGCCCTC
11541796	28467	NM_000371.3(TTR):c.185A>G (p.Glu62Gly)	TTR	Aug 01, 1992	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31593011	TGTTCAGAAAGGCTGCTGATGACACCTGGGAGCCATTTGCCTCTGGGTAAGTTGCCAAAGA
1085307307	414254	NM_001204.6(BMPR2):c.1157A>G (p.Glu386Gly)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532613	AGGTTGGCACTATCAGATATATGGCACCAGAAGTGCTAGAAGGAGCTGTGAACTTGAGGGA
587783842	170002	NM_000252.2(MTM1):c.629A>G (p.Asp210Gly)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641369	CTCTTTTGGTGGTTCCGTATCGTGCCTCAGATGATGACCTCCGGAGAGTTGCAACTTTTAG
28942106	18003	NM_000271.4(NPC1):c.3263A>G (p.Tyr1088Cys)	NPC1	Jul 01, 1999	MedGen:CN389718	Niemann-Pick disease, type C1, juvenile form	germline	18	23535683	CTCTCCCCTCCAGTGTGTTTTATGTCTTCTACGAACAGTACCTGACCATCATTGACGACAC
104886388	35974	NM_000495.4(COL4A5):c.3455-9A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108666487	TGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCA
80356546	24820	NM_003334.3(UBA1):c.1639A>G (p.Ser547Gly)	UBA1	Sep 13, 2012	MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145	Arthrogryposis multiplex congenita, distal, X-linked	germline	X	47206011	CGCCAAATGAATCCACATATCCGGGTGACAAGCCACCAGAACCGTGTGGGTCCTGACACGG
72555368	15981	NM_000404.3(GLB1):c.1498A>G (p.Thr500Ala)	GLB1	Aug 01, 2001	MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004	Mucopolysaccharidosis, MPS-IV-B	germline	3	33014292	TCTGCTTTGCAGGGTTTGGTTTCTAACCTGACTCTCAGTTCCAATATCCTCACGGACTGGA
745379	426531	NM_002052.4(GATA4):c.1147-107A>G	GATA4	Jan 07, 2017	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11758186	AAGTGCTCCTTGGTCCCTTCCTGAGGGCTGAAGCCATCCTGGGGACATCTGCATAGCAGGG
-1	481279	NM_177452.3(TRAPPC6B):c.150-2A>G	TRAPPC6B	Mar 13, 2018	MedGen:CN787271,OMIM:617862	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY	germline	14	39158404	AATACTGTATTACTTCTAGTTGATCTTTTTAGGTTTACAAAAGATACTGCAAGGTTCAAGG
374665929	213827	NM_000070.2(CAPN3):c.1194-9A>G	CAPN3	Apr 28, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline	15	42399483	TGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATC
111033767	36606	NM_000155.3(GALT):c.821-2A>G	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648996	ACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTG
-1	446877	NM_001142966.2(GREB1L):c.4607A>G (p.His1536Arg)	GREB1L	Dec 18, 2017	MedGen:CN703737,OMIM:617805	RENAL HYPODYSPLASIA/APLASIA 3	germline	18	21508463	GACATGAGCACGGACTCCTAAACCTTTTCCACGCCATGGAGGGCATCAGCCACCTTCACCT
3212989	237162	NM_001297590.1(CD3EAP):c.850A>G (p.Thr284Ala)	CD3EAP;ERCC1	Oct 28, 2015	MedGen:CN517202	not provided	germline	19	45408812	GAACAGATTAACACTGAGCCTCTAGAAGACACAGTCCTGTCCCCGACCAAAAAGAGAAAGA
59628143	77338	NM_002055.4(GFAP):c.1121A>G (p.Glu374Gly)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911242	CCACCTACAGGAAGCTGCTAGAGGGCGAGGAGAACCGGTGAGCCCTCATCACAGCCCCTGG
72549322	31352	NM_006894.5(FMO3):c.182A>G (p.Asn61Ser)	FMO3	Oct 01, 2015	Human Phenotype Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED CT:237959005	Trimethylaminuria	germline	1	171103834	GGGCTAGCATTTACAAATCAGTCTTTTCCAACTCTTCCAAAGAGATGATGTGTTTCCCAGA
387906666	38779	NM_005188.3(CBL):c.1112A>G (p.Tyr371Cys)	CBL	Apr 28, 2017	Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:C4016301	Juvenile myelomonocytic leukemia;Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	not provided	11	119278182	TTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATG
146370051	40086	NM_001198799.2(ASCC1):c.953A>G (p.Asn318Ser)	ASCC1	Jul 27, 2011	MedGen:C3277074	Barrett esophagus/esophageal adenocarcinoma	germline	10	72133059	TTATGAATACACTATTCAGGAAAGACCCCAATGGTAAGTCCCCCAGAGAACTATAGCACAG
863225213	214374	NM_003611.2(OFD1):c.149A>G (p.His50Arg)	OFD1	Feb 23, 2015	MedGen:C2749019,OMIM:300804	Joubert syndrome 10	unknown	X	13736515	TTCGAAACCAGCTAATTCATGAGTTGATGCACCCTGTATTGAGTGGAGAACTGCAGCCTCG
121434606	28415	NM_006006.5(ZBTB16):c.1849A>G (p.Met617Val)	ZBTB16	Nov 01, 2008	MedGen:C2676231,OMIM:612447	Skeletal defects, genital hypoplasia, and mental retardation	germline	11	114250382	TGCCACCAGCGCTCCCGGGACTACTCGGCCATGATCAAGCACCTGAGAACGCACAACGGCG
80357276	68833	NM_007294.3(BRCA1):c.122A>G (p.His41Arg)	BRCA1	Aug 22, 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	43115738	TCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAGTAAGTTTGAATGTGTTA
-1	441129	NM_000162.4(GCK):c.46-2A>G	GCK	Jan 09, 2017	MedGen:CN517202	not provided	germline	7	44153465	GCCCGACTGCTCCCATCCCCCTCCCTGTGCAGGTAGAGCAGATCCTGGCAGAGTTCCAGCT
766466297	187251	NM_004990.3(MARS):c.1031A>G (p.Tyr344Cys)	MARS	May 07, 2015	MedGen:C4225400,OMIM:615486;Human Phenotype Ontology:HP:0006517,MedGen:C0034050,SNOMED CT:10501004	Interstitial lung and liver disease;Pulmonary alveolar proteinosis	germline	12	57498563	ACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTT
202247823	47484	NM_000532.4(PCCB):c.1606A>G (p.Asn536Asp)	PCCB	Dec 02, 2014	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136330012	AAGGTACAACGTCCTTGGAGAAAACATGCAAATATTCCATTGTAAACAAATCAAAGGAAAA
121908514	20708	NM_014946.3(SPAST):c.1157A>G (p.Asn386Ser)	SPAST	Jun 01, 2004	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline	2	32127006	GAGGGCTGTTACTCTTTGGTCCACCTGGGAATGGGAAGACAATGCTGGTAAGGGTTCTCTT
121909031	22236	NM_000492.3(CFTR):c.326A>G (p.Tyr109Cys)	CFTR	Feb 13, 2013	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117530951	CTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTAT
-1	444980	NM_004572.3(PKP2):c.1689-2A>G	PKP2	May 18, 2017	MedGen:C1836906,OMIM:609040;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided	germline	12	32824164	CTTACTTTTTTGTTTTTTGTTTTTTCTGATAGAAACATGAGTTCTGCTGGCGCTGATGGGA
1085307167	414094	NM_001204.6(BMPR2):c.125A>G (p.Gln42Arg)	BMPR2	-	MedGen:CN243982	Pulmonary arterial hypertension associated with congenital heart disease	germline	2	202464857	GGCTATGTGCGTTTAAAGATCCGTATCAGCAAGACCTTGGGATAGGTGAGAGTAGAATCTC
121434221	18078	NM_000051.3(ATM):c.7268A>G (p.Glu2423Gly)	ATM	Mar 14, 2000	MedGen:C0334634	Mantle cell lymphoma	germline	11	108329199	AGCAAGCTCTCCTGAAAAGAGCCAAAGAGGAAGTAGGTCTCCTTAGGGAACATAAAATTCA
-1	426469	NM_004187.3(KDM5C):c.89A>G (p.Tyr30Cys)	KDM5C	May 24, 2017	MedGen:CN517202	not provided	germline	X	53224801	GCTGGGCCGAGTTCCGAGACCCTCTTGGCTACATCGCGAAAATCAGGCCCATCGCAGAGAA
724159963	171922	NM_032228.5(FAR1):c.1094A>G (p.Asp365Gly)	FAR1	Jan 05, 2015	MedGen:C4015344,OMIM:616154,Orphanet:ORPHA438178	Peroxisomal fatty acyl-coa reductase 1 disorder	germline	11	13714647	TAAGCCATAAGGCCCCAGCATTCCTGTATGATATCTACCTCAGGATGACTGGAAGAAGCCC
118192184	76898	NM_000540.2(RYR1):c.14740A>G (p.Arg4914Gly)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38585036	GACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCT
137853322	26488	NM_003639.4(IKBKG):c.1219A>G (p.Met407Val)	IKBKG	May 25, 2000	MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:367520004	Incontinentia pigmenti syndrome	germline	X	154564420	TGTCCCAAGTGCCAGTATCAGGCCCCTGATATGGACACCCTGCAGATACATGTCATGGAGT
397514371	36359	NM_000060.4(BTD):c.584A>G (p.Asn195Ser)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644440	GGTGCCCAAAAGATGGGAGATACCAGTTCAACACAAATGTCGTGTTCAGCAATAATGGAAC
121912634	20034	NM_021625.4(TRPV4):c.998A>G (p.Asp333Gly)	TRPV4	Apr 02, 2014	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;MedGen:C0265280,OMIM:184252,Orphanet:ORPHA93314	Skeletal dysplasia;Spondylometaphyseal dysplasia, Kozlowski type	germline	12	109798768	CAGTGCTGCATGCGCTGGTGGCCATTGCTGACAACACCCGTGAGAACACCAAGTTTGTTAC
879253872	244132	NM_001136239.3(PRDM6):c.1385A>G (p.Gln462Arg)	PRDM6	Jul 20, 2016	MedGen:C4310753,OMIM:617039	Patent ductus arteriosus 3	germline	5	123170997	GAGTCCTGGCAAGCCCAACTTCCACAAGCCAGCTCCACTCGGAGTTCAGTGACTGGCATCT
387906979	39655	NM_032580.3(HES7):c.172A>G (p.Ile58Val)	HES7	Jun 01, 2010	MedGen:C1852521,OMIM:122600	Spondylocostal dysostosis 5	germline	17	8122397	CTCCGGAACCCGAAGCTGGAGAAAGCGGAGATATTGGAGTTCGCCGTGGGCTACTTGAGGG
-1	482133	NM_000263.3(NAGLU):c.1A>G (p.Met1Val)	NAGLU	Nov 09, 2015	MedGen:CN517202	not provided	germline	17	42536273	GGCCGTCGCGGGACCCGCAGGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGG
1057520088	363795	NM_000018.3(ACADVL):c.364A>G (p.Asn122Asp)	ACADVL	Jun 01, 2016	MedGen:CN517202	not provided	germline	17	7220945	CTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCA
41457746	30718	NM_000517.4(HBA2):c.96-2A>G	HBA2	Feb 01, 2003	MedGen:C1456873	Alpha plus thalassemia	germline	16	173123	AACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGA
387906997	39706	NM_016952.4(CDON):c.2368A>G (p.Thr790Ala)	CDON	Aug 12, 2011	MedGen:C3280215,OMIM:614226	Holoprosencephaly 11	germline	11	125995047	TGTTTGTTTTTGTTTTCCCTCAAAGGTTCAACATACAAATTTAGGGTCATTGCCATCAACC
121434623	24487	NM_002835.3(PTPN12):c.182A>G (p.Lys61Arg)	PTPN12	Dec 06, 2013	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	Carcinoma of colon	somatic	7	77571160	CCACTGGAGAAAAAGAAGAAAATGTTAAAAAGAACAGATACAAGGACATACTGCCATGTAA
786200905	23090	NM_005055.4(RAPSN):c.-210A>G	RAPSN	Jul 14, 2016	MedGen:C0751882,Orphanet:ORPHA590;MedGen:C4225367,OMIM:616326	Congenital myasthenic syndrome;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	germline	11	47449174	CTGACATTCCTCAGAGGCCATGTGGCCCCAACTGGCAGCGACAGCTGCAGACGGGCTGAAC
587782928	165957	NM_004387.3(NKX2-5):c.461A>G (p.Glu154Gly)	NKX2-5	Jan 01, 2014	MedGen:C1862388,OMIM:108900	Atrial septal defect 7 with or without atrioventricular conduction defects	germline	5	173233083	TCTTCTCGCAGGCGCAGGTCTATGAGCTGGAGCGGCGCTTCAAGCAGCAGCGGTACCTGTC
104893660	28826	NM_013953.3(PAX8):c.160A>G (p.Ser54Gly)	PAX8	Sep 01, 2004	Human Phenotype Ontology:HP:0008188,MedGen:C1563716,OMIM:218700	Thyroid agenesis	germline	2	113246785	CCCTGCGACATCTCTCGCCAGCTCCGCGTCAGCCATGGCTGCGTCAGCAAGATCCTTGGCA
796052973	201582	NM_001165963.1(SCN1A):c.1277A>G (p.Tyr426Cys)	SCN1A	Sep 02, 2015	MedGen:CN517202	not provided	germline;unknown	2	166046870	ATTTGATCCTGGCTGTGGTGGCCATGGCCTACGAGGAACAGAATCAGGCCACCTTGGAAGA
149977726	31695	NM_001953.3(TYMP):c.665A>G	TYMP	Sep 09, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298;MedGen:CN517202	Mitochondrial DNA depletion syndrome 1 (MNGIE type);not provided	germline	22	50527265	CCTCCCCCAAAGCCTCCATTCTCAGTAAGAAACTCGTGGAGGGGCTGTCCGCTCTGGTGGT
864309541	215116	NM_001271.3(CHD2):c.2567A>G (p.Asp856Gly)	CHD2	Sep 10, 2015	MedGen:C3809278,OMIM:615369	Epileptic encephalopathy, childhood-onset	germline	15	92974940	GAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTG
1085308043	416937	NM_000314.6(PTEN):c.165-2A>G	PTEN	May 26, 2017	MedGen:CN072330,OMIM:158350;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	Cowden syndrome 1;PTEN hamartoma tumor syndrome	de novo;germline	10	87925511	GGTGGCTTTTTGTTTGTTTGTTTTGTTTTAAGGTTTTTGGATTCAAAGCATAAAAACCATT
606231307	170198	NM_003937.2(KYNU):c.592A>G (p.Thr198Ala)	KYNU	Nov 24, 2014	MedGen:C0268474,OMIM:236800,Orphanet:ORPHA79155,SNOMED CT:17820009,SNOMED CT:33116002,SNOMED CT:72945002	Hydroxykynureninuria	germline	2	142960633	CTTGTGCCTAACTTGATTTAGGGGGAAGAAACCTTAAGAATAGAGGATATCCTTGAAGTAA
80356699	32585	NM_000083.2(CLCN1):c.382A>G (p.Met128Val)	CLCN1	Apr 12, 2011	MedGen:C2936781,OMIM:160800,SNOMED CT:57938005;MedGen:C0027127,Orphanet:ORPHA206973	Congenital myotonia, autosomal dominant form;Myotonia congenita	germline	7	143320744	GGGATCTTTCTGGTGCTTCTGGGACTGCTGATGGCTCTGGTCAGCTGGAGCATGGACTACG
28934877	27325	NM_000463.2(UGT1A1):c.1198A>G (p.Asn400Asp)	UGT1A1	Sep 17, 2013	MedGen:C2931132,OMIM:606785,Orphanet:ORPHA79235,SNOMED CT:68067009;MedGen:C0017551,OMIM:143500,SNOMED CT:27503000	Crigler-Najjar syndrome, type II;Gilbert's syndrome	germline	2	233768333	ATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTG
387906274	17528	NM_018249.5(CDK5RAP2):c.4005-15A>G	CDK5RAP2	Sep 01, 2009	MedGen:C1858108,OMIM:604804	Primary autosomal recessive microcephaly 3	germline	9	120419975	ATTTTAGCATGGGAGATGATTTATCTTTCAATCTCAATGGTTAAGGATTGAGGAAGACAAC
74315320	21527	NM_024009.2(GJB3):c.421A>G (p.Ile141Val)	GJB3	Jan 01, 2000	MedGen:C1846647,OMIM:607197	Deafness, autosomal recessive	germline	1	34785183	TACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACA
577069249	393390	NM_181426.1(CCDC39):c.1167+1261A>G	CCDC39	Jul 06, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	3	180650140	AAACTTCAAAGTGAACTATAAGTGTGAACTATAAGTGTGACCTGACTCTACTTCTTGCTTT
587783004	165806	NM_000060.4(BTD):c.683A>G (p.Asp228Gly)	BTD	-	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	germline	3	15644539	AGGCAGCATTCGATGTTCCTCTTAAAGTGGATCTCATCACCTTTGATACCCCCTTTGCTGG
121913485	31381	NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys)	FGFR3	Aug 09, 2017	Human Phenotype Ontology:HP:0002862,MedGen:C0699885;Human Phenotype Ontology:HP:0030731,MeSH:D002277,MedGen:C0007097;Human Phenotype Ontology:HP:0005547,MeSH:D009196,MedGen:C0027022,SNOMED CT:425333006;MeSH:C538614,MedGen:C1336078;MedGen:C1868678,OMIM:187600,Orphanet:ORPHA1860;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:CN517202;MedGen:CN169374	Bladder carcinoma;Carcinoma;Myeloproliferative disorder;Papillary renal cell carcinoma, sporadic;Thanatophoric dysplasia type 1;Transitional cell carcinoma of the bladder;not provided;not specified	germline;somatic	4	1804372	TGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTT
367956522	186894	NM_000053.3(ATP7B):c.2731-2A>G	ATP7B	Jan 20, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN517202	Wilson disease;not provided	germline;unknown	13	51949798	TTTCCCATGGTCTTGGTGTTTTATTTTCATAGGCACCCATTCAGCAGCTGGCTGACCGGTT
767045134	187809	NM_001165963.1(SCN1A):c.2353A>G (p.Met785Val)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166041293	ACCATCTGTATTGTCTTAAATACTCTTTTCATGGCCATGGAGCACTATCCAATGACGGACC
879254750	245912	NM_000527.4(LDLR):c.1007A>G (p.Tyr336Cys)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11110718	CCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCT
1057519705	362796	NM_000222.2(KIT):c.1696A>G (p.Asn566Asp)	KIT	Oct 02, 2014	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Malignant melanoma	somatic	4	54727464	CAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAAC
121913364	29005	NM_004333.4(BRAF):c.1801A>G (p.Lys601Glu)	BRAF	Sep 02, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,SNOMED CT:277473004,SNOMED CT:51092000;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;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:0006731,MedGen:C0206682,OMIM:188470	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Carcinoma of colon;Chronic lymphocytic leukemia;Malignant melanoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm;Neoplasm of the thyroid gland;Non-small cell lung cancer;Thyroid cancer, follicular	somatic	7	140753334	AAAATAGGTGATTTTGGTCTAGCTACAGTGAAATCTCGATGGAGTGGGTCCCATCAGTTTG
886039816	260553	NM_001232.3(CASQ2):c.539A>G (p.Lys180Arg)	CASQ2	Oct 13, 2016	MedGen:C2677794,OMIM:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2	germline	1	115732968	CTTCATCTTTATTTTTCCCCTTAGACTACAAGGCTTTTGAAGAAGCAGCTGAACACTTCCA
-1	446597	NM_003916.4(AP1S2):c.289-2A>G	AP1S2	Apr 21, 2016	MedGen:CN517202	not provided	germline	X	15845518	CTTTTCTTTTTTCTTTTTTTTTTCCTTTTCAGGTCTGTGAACTAGATATCATCTTTAATTT
267607111	16687	NM_018105.2(THAP1):c.266A>G (p.Lys89Arg)	THAP1	May 01, 2009	MedGen:C1414216,OMIM:602629,Orphanet:ORPHA98806	Dystonia 6, torsion	germline	8	42839187	CAATATTTCTTTGTACTGAGCCACATGACAAGGTAATATGCATTTTAAAATATTGGGTTGC
374400438	187262	NM_025132.3(WDR19):c.407-2A>G	WDR19	Apr 10, 2015	MedGen:C4225376,OMIM:616307	Senior-Loken syndrome 8	germline	4	39199476	ACATGTCTGTATAAAAATAATCTCTTTTTCAGGAAAACATACTAAGAGAATCACTTGTGGA
370148688	186612	NM_000228.2(LAMB3):c.565-2A>G	LAMB3	Jun 21, 2014	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006	Junctional epidermolysis bullosa gravis of Herlitz	unknown	1	209633135	CTTCAGCGCTTCTCTTTCCCTTCCCTCTGTAGGTCCAACTTAACCTTATGGATTTAGTGTC
121918414	31107	NM_000171.3(GLRA1):c.523A>G (p.Met175Val)	GLRA1	Oct 04, 2012	MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197;MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197	Hyperekplexia hereditary;Hyperekplexia hereditary	germline	5	151856337	GCCTGCCCCATGGACTTGAAGAATTTCCCCATGGATGTCCAGACATGTATCATGCAACTGG
137854593	25970	NM_000397.3(CYBB):c.1499A>G (p.Asp500Gly)	CYBB	May 01, 1994	MedGen:C1844376,OMIM:306400;MedGen:CN517202	Chronic granulomatous disease, X-linked;not provided	germline	X	37809604	ACTTTGCTGTGCACCATGATGAGGAGAAAGATGTGATCACAGGCCTGAAACAAAAGACTTT
745305932	211657	NM_005888.3(SLC25A3):c.158-9A>G	SLC25A3	Jan 21, 2013	MedGen:CN517202	not provided	germline	12	98595424	AGAAATACTTACTTGATTTTTTTTTTTCCAATCAAACAGAGCAGTATAGCTGTGACTATGG
121909239	22888	NM_000314.6(PTEN):c.755A>G (p.Asp252Gly)	PTEN	Apr 01, 2005	MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548	Macrocephaly/autism syndrome	germline	10	87957973	AGTTCCCTCAGCCGTTACCTGTGTGTGGTGATATCAAAGTAGAGTTCTTCCACAAACAGAA
1064793722	408703	NM_014191.3(SCN8A):c.4419+1A>G	SCN8A	Jun 12, 2015	MedGen:CN517202	not provided	germline	12	51789419	ATTGATAACTTCAATCAACAAAAGAAAAAGATAGGTCTCCTCCCCTCATTGCCAGTGGTTG
1060499733	389102	NM_138615.2(DHX30):c.1685A>G (p.His562Arg)	DHX30	Dec 18, 2017	Human Phenotype Ontology:HP:0000750,MedGen:C0454644;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0008936,MedGen:C1853743;MedGen:CN703736,OMIM:617804;Human Phenotype Ontology:HP:0002360,MedGen:C0037317;Human Phenotype Ontology:HP:0000486,MedGen:C0038379	Delayed speech and language development;Global developmental delay;Hearing impairment;Microcephaly;Muscular hypotonia of the trunk;NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE;Sleep disturbance;Strabismus	de novo;germline	3	47846757	GCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCT
199473004	78303	NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly)	KCNH2	Jan 03, 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	150948938	ACTGTGACCTACACAAGATCCATCGGGACGACCTGCTGGAGGTGCTGGACATGTACCCTGA
66539573	103063	NM_000531.5(OTC):c.350A>G (p.His117Arg)	OTC	-	MedGen:CN517202	not provided	unknown	X	38381393	ATCCTTGTTTTCTTACCACACAAGATATTCATTTGGGTGTGAATGAAAGTCTCACGGACAC
863224854	213668	NM_003688.3(CASK):c.2303-2A>G	CASK	Sep 09, 2014	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	de novo	X	41531211	TTTTAAACCTCTTGTGCCATGCGACTTTGCAGATACAACCAGACCTCCAAAGAAAGACGAA
59151893	29626	NM_000422.2(KRT17):c.275A>G (p.Asn92Ser)	KRT17	Jul 26, 2016	MedGen:C1721007,OMIM:167210;MedGen:CN517202	Pachyonychia congenita 2;not provided	germline	17	41624235	GAGGTGAGAAGGCCACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGT
794728573	197489	NM_000218.2(KCNQ1):c.1515-2A>G	KCNQ1	Sep 16, 2014	MedGen:CN517202	not provided	germline	11	2768842	ACTCACAATCTCCTCTCCTCTCTCCACTGCAGGCTGCGGGAACACCATCGGGCCACCATTA
-1	361944	NM_002609.3(PDGFRB):c.1699A>G (p.Lys567Glu)	PDGFRB	Dec 01, 2016	MedGen:C0432284,OMIM:228550,Orphanet:ORPHA2591	Infantile myofibromatosis 1	germline;not applicable	5	150125553	CTCCAGAAGCCACGTTACGAGATCCGATGGAAGGTGATTGAGTCTGTGAGCTCTGACGGCC
199472974	78237	NM_000238.3(KCNH2):c.1933A>G (p.Met645Val)	KCNH2	Nov 22, 2013	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150951460	AACTCAGAGAAGATCTTCTCCATCTGCGTCATGCTCATTGGCTGTGAGTGTGCCCAGGGGC
1131690788	420430	NM_006060.5(IKZF1):c.584A>G (p.His195Arg)	IKZF1	Apr 05, 2017	MedGen:C4225173,OMIM:616873,Orphanet:ORPHA317473	Immunodeficiency, common variable, 13	maternal	7	50382702	GGGACGCCCTCACTGGCCACCTGAGGACGCACTCCGGTAGGTCCCCTGGATGCAGTCCGGG
104894290	28184	NM_000448.2(RAG1):c.2735A>G (p.Tyr912Cys)	RAG1	May 29, 1998	MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006	Histiocytic medullary reticulosis	germline	11	36576039	CTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCT
587780835	139867	NM_058216.2(RAD51C):c.1027-2A>G	RAD51C	Jun 11, 2014	MedGen:C3150653,OMIM:613390	Fanconi anemia, complementation group O	germline	17	58734116	GCATATTTGTATATATATTTTTTATCTTTCAGCCTCAGGGATTTAGAGATACTGTTGTTAC
121912765	32740	NM_001202.5(BMP4):c.278A>G (p.Glu93Gly)	BMP4	Feb 01, 2008	MedGen:C1864689,OMIM:607932,Orphanet:ORPHA139471	Microphthalmia syndromic 6	germline	14	53951945	TGCGGGATCTTTACCGGCTTCAGTCTGGGGAGGAGGAGGAAGAGCAGATCCACAGCACTGG
755236236	265658	NM_005677.3(COLQ):c.529-2A>G	COLQ	Jun 16, 2015	MedGen:C1864233,OMIM:603034,Orphanet:ORPHA98915	Endplate acetylcholinesterase deficiency	germline	3	15474953	TGATTGTAAATGTACCTTCTGCTTTCTTTTAGGGCTACCCTGGATCCAGAGGGGAAAAGGT
281865065	16056	NM_139241.3(FGD4):c.1762-2A>G	FGD4	Sep 13, 2012	MedGen:C1836336,OMIM:609311,Orphanet:ORPHA99954	Charcot-Marie-Tooth disease, type 4H	germline	12	32633547	TGATTACTGTTCATTTTTCTTTTAAATTTAAGGTGGTTTGTTGGAAATGCTCCGACTACAA
1057517233	358216	NM_000053.3(ATP7B):c.3904-2A>G	ATP7B	Sep 15, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51937395	CCCCTTCCTCACTGTGTGCTCCTCTCCATCAGAATGATTTGCTGGATGTGGTGGCTAGCAT
483352896	16275	NM_152419.2(HGSNAT):c.372-2A>G	HGSNAT	Aug 18, 2016	MedGen:C0086649,OMIM:252930,Orphanet:ORPHA79271,SNOMED CT:75238000;MedGen:C0026706,SNOMED CT:88393000	Mucopolysaccharidosis, MPS-III-C;Sanfilippo syndrome	germline	8	43158921	CCACTTGTCTTAATTTTACCTAATGTTTGTAGGTTGGAATACAGATTTGGAGAATTTGGAA
139732572	102582	NM_000146.3(FTL):c.1A>G (p.Met1Val)	FTL	Jun 01, 2004	MedGen:C3810090,OMIM:615604,Orphanet:ORPHA440731	L-ferritin deficiency	germline	19	48965508	TTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCA
794728779	196694	NM_001035.2(RYR2):c.11965A>G (p.Asn3989Asp)	RYR2	Nov 09, 2012	MedGen:CN517202	not provided	germline	1	237783677	TAAACAAATGCAACTGCTTTACCACCAGGTAATGTTGTTAATGGAACGATTGGCAAACAGA
397508201	67911	NM_000492.3(CFTR):c.1393-2A>G	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117559462	AATGACCTAATAATGATGGGTTTTATTTCCAGACTTCACTTCTAATGGTGATTATGGGAGA
-1	433574	NM_144997.6(FLCN):c.1301-2A>G	FLCN	May 09, 2017	MedGen:CN169374	not specified	germline	17	17215318	GATGAGGAGCCACGGGCCTTGTGTTGTTACAGAGTTTGCTGTCATCGTGGAGGTCCACGCA
5030764	28568	NM_000174.4(GP9):c.182A>G (p.Asn61Ser)	GP9	Jun 14, 2016	MedGen:C0005129,OMIM:231200,Orphanet:ORPHA274,SNOMED CT:234478007,SNOMED CT:54569005;MedGen:C1856448	Bernard Soulier syndrome;Bernard-Soulier syndrome type C	germline	3	129061921	CCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTT
1057516111	353992	NM_172107.3(KCNQ2):c.1085A>G (p.Tyr362Cys)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63433842	CGCGCACAGACCTGCACTCCACGTGGCAGTACTACGAGCGAACGGTCACCGTGCCCATGTA
137854488	31364	NM_212482.2(FN1):c.2918A>G (p.Tyr973Cys)	FN1	Feb 19, 2008	MedGen:C1866075,OMIM:601894	Glomerulopathy with fibronectin deposits 2	germline	2	215406306	AAGTCACCGGGCTGTCCCCTGGGGTCACCTATTACTTCAAAGTCTTTGCAGTGAGCCATGG
63751656	96192	NM_000251.2(MSH2):c.1660A>G (p.Ser554Gly)	MSH2	Jul 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47466807	ATCCAGAAGAATGGTGTTAAATTTACCAACAGGTTTGCAAGTCGTTATTATATTTTTAACC
200969445	439630	NM_005390.4(PDHA2):c.679A>G (p.Met227Val)	PDHA2	-	MedGen:C0403810,OMIM:258150,SNOMED CT:236803007	Oligosynaptic infertility	germline	4	95840829	GTTTTCATCTGTGAGAATAACCTATATGGAATGGGAACATCTACTGAGAGAGCAGCAGCCA
730880531	179329	NM_000256.3(MYBPC3):c.1227-2A>G	MYBPC3	Aug 18, 2015	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47343147	TTTCCTGCCACTTCCCTGCGGCCCCCACCCAGGTACATCTTTGAGTCCATCGGTGCCAAGC
121918394	32896	NM_000041.3(APOE):c.490A>G (p.Lys164Glu)	APOE	Aug 01, 1995	MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED CT:398796005	Familial type 3 hyperlipoproteinemia	germline	19	44908786	CGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGC
760048191	224696	NM_006745.4(MSMO1):c.731A>G (p.Tyr244Cys)	MSMO1	Mar 01, 2011	MedGen:C4225189,OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	germline	4	165341795	CTCTCAACCCTTTAAATCTGATCCCTTTCTATGCTGGTTCTCGGCATCATGATTTCCACCA
886037617	24567	NM_194442.2(LBR):c.166-2A>G	LBR	Aug 01, 2002	MedGen:C0030779,OMIM:169400,SNOMED CT:85559002	Pelger-Huët anomaly	germline	1	225422279	GTAAAGCTCTTTGCCTTCTTCCCCCTTTCTAGCCTTTAACTTCCTTTAGGCAAAGGAAAGG
1131691648	421829	NM_001197104.1(KMT2A):c.11147-2A>G	KMT2A	Sep 29, 2015	MedGen:CN517202	not provided	germline	11	118519616	CCTCACTTCCCTGGTGCTTCTGATTCTTCTAGGTGTTAACGGTTTGAGGATGCTGGGGATT
148642312	196434	NM_207111.3(RNF216):c.1616A>G (p.Tyr539Cys)	RNF216	Apr 28, 2015	MedGen:C1859305,OMIM:212840,Orphanet:ORPHA1173	Gordon Holmes syndrome	germline	7	5721061	TTCCAGCTGTGCAACAAGAGCAGGAGTTCTATGAGCAGAAAATCAAAGAGATGGCAGAGGT
797044897	205313	NM_152296.4(ATP1A3):c.971A>G (p.Glu324Gly)	ATP1A3	-	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	19	41984940	TCATCGGCATCATCGTGGCCAATGTCCCAGAGGGTCTGCTGGCCACTGTCACTGTAAGGCC
771019366	228126	NM_000527.4(LDLR):c.269A>G (p.Asp90Gly)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102742	ACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGA
772751654	429909	NM_000135.3(FANCA):c.1A>G (p.Met1Val)	FANCA	Nov 11, 2016	MedGen:C3469521,OMIM:227650	Fanconi anemia, complementation group A	germline	16	89816615	GCCGCCGCCGGGGCTGTAGGCGCCAAGGCCATGTCCGACTCGTGGGTCCCGAACTCCGCCT
121918605	28001	NM_001035.2(RYR2):c.12602A>G (p.Gln4201Arg)	RYR2	Feb 16, 2012	MedGen:C4053736,OMIM:604772	Catecholaminergic polymorphic ventricular tachycardia type 1	germline	1	237784314	ACTTCTGCGAGGACACCATCTTTGAAATGCAGCTGGCGGCTCAGATCTCGGAGTCGGACTT
118192144	76877	NM_000540.2(RYR1):c.14572A>G (p.Asn4858Asp)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38580430	GTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCG
-1	425578	NM_000248.3(MITF):c.626A>G (p.His209Arg)	MITF	Jun 19, 2017	MedGen:CN517202	not provided	germline	3	69951878	TGGCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGAGTAAGTTGGTTTTATTTATGTT
886041445	264164	NM_002948.4(RPL15):c.310-2A>G	RPL15	Jan 13, 2016	MedGen:CN517202	not provided	germline	3	23919194	AGATTGACCTTGGGCCTTTTTTCCTATTCTAGGAGCGAGCTGGACGCCACTGTGGGGCTCT
587776690	23346	NM_001184.3(ATR):c.2022A>G (p.Gly674=)	ATR	Apr 01, 2003	MedGen:CN033164,OMIM:210600	Seckel syndrome 1	unknown	3	142556439	TGAAGTAATCCGGGCTAGTTGTGTTAGTGGATTTTTTATCTTATTGCAGCAGCAGAATTCT
786205156	187694	NM_015929.3(LIPT1):c.535A>G (p.Thr179Ala)	LIPT1	Dec 17, 2013	MedGen:C4225379,OMIM:616299,Orphanet:ORPHA401862	Lipoyltransferase 1 deficiency	germline	2	99162492	ATCGGCCGGACTACTGCCTATCACCATTGCACTTTATTATGTAGTACTGATGGGACGTTCT
146457619	264231	NM_000083.2(CLCN1):c.1453A>G (p.Met485Val)	CLCN1	Jul 12, 2017	MedGen:CN517202	not provided	germline	7	143339304	ACCACTATGCCCATACCCTGCGGAGGCTTCATGCCTGTGTTTGTGCTAGGTAAGTTCTGAT
28933370	28919	NM_001005862.2(ERBB2):c.2480A>G (p.Asn827Ser)	ERBB2	May 13, 2016	Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001;MedGen:C0948216,Orphanet:ORPHA213504	Neoplasm of ovary;Ovarian Adenocarcinoma	somatic	17	39725125	CCGCTCGGAACGTGCTGGTCAAGAGTCCCAACCATGTCAAAATTACAGACTTCGGGCTGGC
72556270	103107	NM_000531.5(OTC):c.481A>G (p.Asn161Asp)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401369	CTGGCTAAAGAAGCATCCATCCCAATTATCAATGGGCTGTCAGATTTGTACCATCCTATCC
606231437	170981	NM_152296.4(ATP1A3):c.2318A>G (p.Asn773Ser)	ATP1A3	May 04, 2014	MedGen:C3553788,OMIM:614820	Alternating hemiplegia of childhood 2	de novo	19	41970488	AGAAGTCCATTGCCTACACCCTGACCAGCAATATCCCGGAGATCACGCCCTTCCTGCTGTT
267608553	165891	NM_003159.2(CDKL5):c.978-2A>G	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	unknown	X	18603900	AAACTGATATACTTCTTTTGTTTTTAACATAGAAACCAAGCCGGCAAAAGTACTGCTTTGC
118203894	24592	m.5843A>G	MT-TY	Dec 01, 2003	MedGen:C4016633	Focal segmental glomerulosclerosis and dilated cardiomyopathy	germline	MT	5843	ATCACCTCGGAGCTGGTAAAAAGAGGCCTAACCCCTGTCTTTAGATTTACAGTCCAATGCT
587777223	125788	NM_024301.4(FKRP):c.1A>G (p.Met1Val)	FKRP	Sep 21, 2016	MedGen:C3150413,OMIM:613153;MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	germline	19	46755451	GAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGG
387907206	40606	NM_004985.4(KRAS):c.439A>G (p.Lys147Glu)	KRAS	Jul 24, 2017	MedGen:C3809005,OMIM:615278;MedGen:CN517202	Cardiofaciocutaneous syndrome 2;not provided	germline	12	25225625	TATGGAATTCCTTTTATTGAAACATCAGCAAAGACAAGACAGGTAAGTAACACTGAAATAA
786205854	188776	NM_144499.2(GNAT1):c.386A>G (p.Asp129Gly)	GNAT1	Mar 13, 2012	MedGen:C4225345,OMIM:616389	Night blindness, congenital stationary, type 1g	germline	3	50193600	TGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGC
886041438	264136	NM_015560.2(OPA1):c.2708-2A>G	OPA1	Dec 10, 2015	MedGen:CN517202	not provided	germline	3	193667168	GCTCCTCAGGTTTTTTAACTTTCTTTAAACAGTTAGGCGATTAGAGAAAAATGTTAAAGAG
121917884	19602	NM_025243.3(SLC19A3):c.1264A>G (p.Thr422Ala)	SLC19A3	Nov 15, 2016	MedGen:C1843807,OMIM:607483,Orphanet:ORPHA65284;MedGen:CN517202	Basal ganglia disease, biotin-responsive;not provided	germline	2	227688216	TTTATTGCCTTGGTGATTCAGACCATCATGACTGTGATTGTAGTAGATCAGAGAGGGCTCA
180177186	200458	NM_000030.2(AGXT):c.248A>G (p.His83Arg)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869252	CACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGT
118192166	28031	NM_000540.2(RYR1):c.13909A>G (p.Thr4637Ala)	RYR1	Mar 03, 2016	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	germline;unknown	19	38572181	AACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTC
-1	445742	NM_000267.3(NF1):c.4270-2A>G	NF1	Jun 13, 2017	MedGen:CN517202	not provided	germline	17	31259030	CTGATTATTTATAACCCTGTTTTATTGTGTAGATACTTCAGAGTATTGCCAATCATGTTCT
397514514	48100	NM_183075.2(CYP2U1):c.1139A>G (p.Glu380Gly)	CYP2U1	Jan 28, 2013	MedGen:C3539507,OMIM:615030,Orphanet:ORPHA320411	Spastic paraplegia 56, autosomal recessive	germline	4	107947388	TTTTCCCTTTTTACATAGAAAAGGTTCATGAAGAAATTGAAAGAGTCATTGGCGCCAACCG
119481074	19912	NM_000197.1(HSD17B3):c.703A>G (p.Met235Val)	HSD17B3	May 01, 1994	MedGen:C0268296,OMIM:264300,Orphanet:ORPHA752,SNOMED CT:50658006	Testosterone 17-beta-dehydrogenase deficiency	germline	9	96240877	GTGCTGACCCCATATGCTGTCTCGACTGCAATGACAAAGTATCTAAATACAAATGTGATAA
140022350	367131	NM_000388.3(CASR):c.2405A>G (p.Asn802Ser)	CASR	Jun 15, 2015	MedGen:CN517202	not provided	germline	3	122284359	TCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCAAGTTCATCACCTTCAGCATGCT
207460002	24722	m.15579A>G	MT-CYB	Oct 01, 2001	MedGen:C0559758	Multisystem disorder	germline	MT	15579	TCAAGCCCGAATGATATTTCCTATTCGCCTACACAATTCTCCGATCCGTCCCTAACAAACT
201861847	76387	NM_020117.10(LARS):c.1118A>G (p.Tyr373Cys)	LARS	Jul 01, 2012	MedGen:C3809522,OMIM:615438,Orphanet:ORPHA370088	Infantile liver failure syndrome 1	germline	5	146153928	CTGCACCTTTAACATCATACAAGGTGATCTATGTTCTCCCAATGCTAACTATTAAGGAGGA
-1	426967	NM_001171.5(ABCC6):c.2126A>G (p.Glu709Gly)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182533	AGGCCTGGGTGCAGAACACCTCTGTGGTAGAGAATGTGTGCTTCGGGCAGGAGCTGGACCC
199422314	47526	NM_001099274.1(TINF2):c.850A>G (p.Thr284Ala)	TINF2	May 10, 2012	MedGen:C1851970,OMIM:127550	Dyskeratosis congenita autosomal dominant	not provided	14	24240630	TCCACTAGGGGAGGCCATAAGGAGCGCCCCACAGTCATGCTGTTTCCCTTTAGGAATCTCG
112518413	29381	NM_001190839.2(MGP):c.137-2A>G	MGP	Jan 01, 1999	MedGen:C1855607,OMIM:245150,Orphanet:ORPHA85202	Keutel syndrome	germline	12	14884247	TGATATAATGAATCTTTTTTTTTTAATTTCAGAATCACATGAAAGCATGGAATCTTATGAA
786202545	184885	NM_007294.3(BRCA1):c.5153-2A>G	BRCA1	Apr 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	43063375	TATGTAACCTGTCTTTTCTATGATCTCTTTAGGGGTGACCCAGTCTATTAAAGAAAGAAAA
28934876	27335	NM_001382.3(DPAGT1):c.509A>G (p.Tyr170Cys)	DPAGT1	Aug 01, 2003	MedGen:C2931004,OMIM:608093,Orphanet:ORPHA86309	Congenital disorder of glycosylation type 1J	germline	11	119100396	TACCATCTCTCCCCGCAGGAATCCTGTACTATGTCTACATGGGGCTGCTGGCAGTGTTCTG
80338959	34008	NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val)	SCN4A	Mar 16, 2017	MedGen:CN074266,OMIM:170500	Hyperkalemic Periodic Paralysis Type 1	germline	17	63943036	GTGACGAAGCAGGCCTTCGACATCACCATCATGATCCTCATCTGCCTCAACATGGTCACCA
387907179	40315	NM_001172646.1(PLCB4):c.986A>G (p.Asn329Ser)	PLCB4	May 04, 2012	MedGen:C3553404,OMIM:614669	Auriculocondylar syndrome 2	germline	20	9384333	TGGCTCACTACTTCATCAGTTCTTCCCATAACACTTATCTCACTGGCAGACAGTTCGGCGG
879254939	246211	NM_000527.4(LDLR):c.1558A>G (p.Arg520Gly)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113734	ACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGT
1057516120	353981	NM_172107.3(KCNQ2):c.1621A>G (p.Arg541Gly)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63414098	GACCTGACCCCGGGCCTCAAAGTCAGCATCAGAGCCGTGTGGTGAGGCCCCTGCCCAGCCG
12720458	67621	NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg)	KCNQ1	Jul 12, 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	2585264	CCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGC
863223906	212023	NM_000032.4(ALAS2):c.1699A>G (p.Met567Val)	ALAS2	Oct 03, 2014	MedGen:CN517202	not provided	germline	X	55009245	TTCTGTCGCCGTCCTGTACACTTTGAGCTCATGAGTGAGTGGGAACGTTCCTACTTCGGGA
774923951	226903	NM_020320.4(RARS2):c.1A>G (p.Met1Val)	RARS2	Jul 01, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	6	87589957	GGACTGCGGCGCACTTCCGTAGAGGTGGACATGGCGTGCGGCTTTCGCCGCGCTATTGCTT
122445093	26760	NM_000489.4(ATRX):c.4826A>G (p.His1609Arg)	ATRX	Mar 24, 1995	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847	ATR-X syndrome	germline	X	77633696	CTGTTTTCTTATAGGTGGTAAGTTTTCTTCATACAGTTCTTTTGTGTGACAAACTGGATTT
119450944	17505	NM_000026.3(ADSL):c.736A>G (p.Lys246Glu)	ADSL	Jan 27, 2017	MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008	Adenylosuccinate lyase deficiency	germline	22	40360436	TTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGG
796052839	203925	NM_001184880.1(PCDH19):c.1019A>G (p.Asn340Ser)	PCDH19	Aug 10, 2017	MedGen:C1848137,OMIM:300088,Orphanet:ORPHA101039;MedGen:CN517202	Early infantile epileptic encephalopathy 9;not provided	germline	X	100407579	GCAAGGTCACCGTCAGCGTGCTGGACACCAATGACAATCCGCCGGTCATCAACCTGCTGTC
397508940	226210	NM_007294.3(BRCA1):c.213-2A>G	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	17	43104958	CTGAGTGTGTTTCTCAAACAATTTAATTTCAGGAGCCTACAAGAAAGTACGAGATTTAGTC
397514715	71564	NM_001127217.2(SMAD9):c.127A>G (p.Lys43Glu)	SMAD9	Dec 01, 2011	MedGen:C3888002,OMIM:615342	Primary pulmonary hypertension 2	germline	13	36879563	TGGGCAGAGAAGGCAGTGGACTCTCTAGTGAAGAAGTTAAAGAAGAAGAAGGGAGCCATGG
397514491	45891	NM_005340.6(HINT1):c.152A>G (p.His51Arg)	HINT1	Oct 01, 2012	MedGen:CN074193,OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	germline	5	131162636	TCCATGACATTTCCCCTCAAGCACCAACACATTTTCTGGTGATACCCAAGAAACATATATC
869312916	226960	NM_000833.4(GRIN2A):c.1841A>G (p.Asn614Ser)	GRIN2A	Jan 06, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	16	9829589	CTATATGGCTTCTTTGGGGCCTGGTGTTCAATAACTCCGTGCCTGTCCAGAATCCTAAAGG
-1	442114	NM_000435.2(NOTCH3):c.3062A>G (p.Tyr1021Cys)	NOTCH3	Jun 20, 2014	MedGen:CN517202	not provided	germline	19	15180761	ACGGGGGTCGCTGCGTCCAGACTGGGGCCTATTGCCTTTGTCCCCCTGGATGGAGCGGACG
137853299	27716	NM_000362.4(TIMP3):c.572A>G (p.Tyr191Cys)	TIMP3	Dec 01, 1994	MedGen:C1850938,OMIM:136900	Sorsby fundus dystrophy	germline	22	32859313	ACTACGCCTGCATCCGGCAGAAGGGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCCCC
786205899	190091	NM_000512.4(GALNS):c.542A>G (p.Tyr181Cys)	GALNS	Feb 14, 2016	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	inherited	16	88837646	ACAACAAGGCCAGGCCCAACATCCCTGTGTACAGGGACTGGGAGATGGTTGGCAGGTAATG
63751287	33880	NM_000021.3(PSEN1):c.697A>G (p.Met233Val)	PSEN1	Dec 23, 2010	MedGen:C1843013,OMIM:607822	Alzheimer disease, type 3	not provided	14	73192792	CAGGCATATCTCATTATGATTAGTGCCCTCATGGCCCTGGTGTTTATCAAGTACCTCCCTG
1131691818	421904	NM_015335.4(MED13L):c.1A>G (p.Met1Val)	MED13L	May 19, 2017	MedGen:CN517202	not provided	germline	12	116277131	CCGCTCTGGCGGCCGGGCTCGCGGAGGATCATGACTGCGGCAGCGAACTGGGTGGCGAACG
120074172	18211	NM_000187.3(HGD):c.1112A>G (p.His371Arg)	HGD	Dec 01, 1999	MedGen:C0002066,OMIM:203500,Orphanet:ORPHA56	Alkaptonuria	germline	3	120633223	GAGGGAGTCTACACAGCACAATGACCCCCCATGGACCTGATGCTGACTGCTTTGAGAAGGC
-1	482156	NM_004110.5(FDXR):c.1A>G (p.Met1Val)	FDXR	Dec 04, 2017	MedGen:CN517202	not provided	germline	17	74872944	AGATCCACTTGCAGGTTGCTGCTCCCAGCCATGGCTTCGCGCTGCTGGCGCTGGTGGGGCT
727502784	39939	NM_001145901.1(SARS2):c.1175A>G (p.Asp392Gly)	SARS2	Feb 11, 2011	MedGen:C3151209,OMIM:613845,Orphanet:ORPHA363694	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	germline	19	38916306	ACACCTTCGTCCTTGACCGCAGGGTCCTGGATATGCCCACCCAAGAACTGGGCCTCCCCGC
398122394	76988	NM_001257235.2(ALG13):c.8A>G (p.Asn3Ser)	ALG13	Jul 15, 2017	MedGen:C3550904,OMIM:300884,Orphanet:ORPHA324422;MedGen:CN517202	Epileptic encephalopathy, early infantile, 36;not provided	de novo;germline	X	111685040	TAGTGGTTATAAACGAAAAGTTGATGAACAATCATCAGCTGGAACTGGCAAAGCAGCTACA
137854549	15427	NM_000308.3(CTSA):c.1411A>G (p.Lys471Glu)	CTSA	Jan 01, 2000	MedGen:CN068412	Galactosialidosis, late infantile	germline	20	45898107	GAGTTCTCCCACATCGCCTTTCTCACGATCAAGGTAGGGACTGGGCCTGCTGAGAGATAAC
199469645	39478	NM_017415.2(KLHL3):c.1670A>G (p.Tyr557Cys)	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	137625818	GATCCTGCAACTTGGCTTCGGTGGAGTACTACAATCCTGTCACTGACAAATGGACGCTGCT
-1	426995	NM_001171.5(ABCC6):c.1780-2A>G	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16187213	TGCTGGGTGACCTGCGGCTTCGGTTTTCCTAGGCCCGGGTGTCCTTTGACCGTCTGGTCAC
121912560	23620	NM_004999.3(MYO6):c.737A>G (p.His246Arg)	MYO6	Jul 30, 2015	MedGen:CN043648,Orphanet:ORPHA87884;MedGen:C3501265	Nonsyndromic hearing loss and deafness;Sensorineural deafness with hypertrophic cardiomyopathy	germline	6	75841299	GTGTTCAAGGCAAAGAGGAAAGAAATTATCATATCTTTTATAGGTTGTGTGCTGGTGCTTC
398124533	102375	NM_144997.6(FLCN):c.250-2A>G	FLCN	Aug 24, 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	17226324	CTAACAGATTTACTTTTCCTTTTCATGGACAGGGCTGCCGGTCACTTGCTGCAGGGCACCC
4253196	187997	NM_000124.3(ERCC6):c.2599-26A>G	ERCC6	Apr 17, 2012	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322	Cockayne syndrome B	germline	10	49473613	CACTCACTGGGAATGTGTATTTGCTTTGCAAACTCCTATCCCCCACCTCCAAACAGATGCT
758972393	214169	NM_182896.2(ARL13B):c.461A>G (p.Asn154Ser)	ARL13B	Feb 23, 2015	MedGen:C2676771,OMIM:612291	Joubert syndrome 8	unknown	3	94035411	TTGAATGTCTATCTCTGGAAAAATTGGTCAATGAGCACAAGTGCCTGTGTCAGATAGTAAG
387906622	38651	NM_000138.4(FBN1):c.5096A>G (p.Tyr1699Cys)	FBN1	Jan 04, 2018	MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED CT:254090007;MedGen:C3280054,OMIM:614185	Acromicric dysplasia;Geleophysic dysplasia 2	germline	15	48463210	ATATGAGAAGAAGTTTGTGCTACAGAAACTACTATGCTGACAACCAGACCTGTGATGGAGA
727503036	176795	NM_000117.2(EMD):c.266-2A>G	EMD	Aug 24, 2010	MedGen:CN069573,Orphanet:ORPHA98863	Emery-Dreifuss muscular dystrophy, X-linked	germline	X	154380232	CCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGC
28935197	25769	NM_000169.2(GLA):c.644A>G (p.Asn215Ser)	GLA	May 18, 2017	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:CN517202	Fabry disease;not provided	germline;unknown	X	101398942	CAGAAGAGTCATATCTGTTTTCACAGCCCAATTATACAGAAATCCGACAGTACTGCAATCA
786203988	249193	NM_052867.3(NALCN):c.1733A>G (p.Tyr578Cys)	NALCN	Sep 08, 2016	MedGen:CN517202	not provided	germline	13	101191948	GACATATGTGGGCACCCGTGGTTGCCATCTATTTCATTCTCTATCATCTTTTTGCCACTCT
-1	481082	NM_001110556.1(FLNA):c.82A>G (p.Met28Val)	FLNA	-	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	de novo	X	154371164	GGCGGCGGCGTCGACACGCGGGACGCCGAGATGCCGGCCACCGAGAAGGACCTGGCGGAGG
-1	457577	NM_194456.1(KRIT1):c.1A>G (p.Met1Val)	KRIT1	Nov 01, 2016	MedGen:C1861784,OMIM:116860;MedGen:CN517202	Cerebral cavernous malformation;not provided	germline	7	92242135	AAAGGATTTTTTTATTTGTTTTGTAAAGCAATGGGAAATCCAGAAAACATAGAAGATGCAT
111584802	214852	NM_016218.3(POLK):c.1256A>G (p.Glu419Gly)	POLK	Apr 16, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75587055	GGGATGGAGAGAGGAAAAGTATGAGCGTTGAGAGGTAATGTTTTATTATTTATTGTTAATT
869025193	181511	NM_006912.5(RIT1):c.242A>G (p.Glu81Gly)	RIT1	Jan 05, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C3809233,OMIM:615355;MedGen:CN517202;MedGen:CN169374	Noonan syndrome;Noonan syndrome 8;not provided;not specified	germline;maternal;unknown	1	155904498	ACATAATGACCCTTGTTTCCCTCTAGGCAGAGTTTACAGCCATGCGGGACCAGTATATGAG
121913233	170209	NM_005343.3(HRAS):c.182A>G (p.Gln61Arg)	HRAS	Oct 12, 2017	MedGen:C0265318,OMIM:163200,SNOMED CT:239112008;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;MedGen:CN517202	Epidermal nevus syndrome;Neoplasm;Neoplasm of the thyroid gland;not provided	germline;somatic	11	533874	GCCTGTTGGACATCCTGGATACCGCCGGCCAGGAGGAGTACAGCGCCATGCGGGACCAGTA
35801418	16976	NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys)	LRRK2	Sep 13, 2012	MedGen:C1846862,OMIM:607060	Parkinson disease 8, autosomal dominant	germline	12	40321114	AAATTATCATCCGACTATATGAAATGCCTTATTTTCCAATGGGATTTTGGTCAAGATTAAT
730882140	181183	NM_001039550.1(DNAJB2):c.14A>G (p.Tyr5Cys)	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	219279847	ACGACTGACCAGTTGCCATGGCATCCTACTACGAGATCCTAGACGTGCCGCGAAGTGCGTC
587781664	151046	NM_000546.5(TP53):c.1101-2A>G	TP53	Jul 12, 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	7669692	TCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTGAAGTCCAAAAAGGGTCAGTCTA
1057520704	371881	NM_000051.3(ATM):c.6096-2A>G	ATM	May 07, 2015	MedGen:CN517202	not provided	germline	11	108316009	CCCAAAGCTATTTTCACAATCTTTTCTTATAGACTACGAACATATGAACACGAAGCAATGT
-1	445702	NM_144997.6(FLCN):c.780-2A>G	FLCN	May 10, 2016	MedGen:CN517202	not provided	germline	17	17221630	AGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGA
-1	433497	NM_004006.2(DMD):c.9560A>G (p.Asp3187Gly)	DMD	Aug 17, 2016	MedGen:CN169374	not specified	germline	X	31209501	TGTGTCTGAACTGGCTGCTGAATGTTTATGATACGTACGTATGGCATGTTTTTATTTCCCG
879255656	209390	NM_016008.3(DYNC2LI1):c.993+3A>G	DYNC2LI1	Jun 16, 2015	MedGen:C4310724,OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	germline;unknown	2	43805249	CGATGAGATGAGAATTCAGAAGGATCTGGTATTATCCTAAACATTTACTTAATTTCATCTG
121912895	32436	NM_001844.4(COL2A1):c.2974A>G (p.Arg992Gly)	COL2A1	Sep 01, 2005	Human Phenotype Ontology:HP:0002657,MedGen:C0700635,OMIM:184250,Orphanet:ORPHA93346	Spondylometaphyseal dysplasia	germline	12	47978320	ATCGTCGGTCTGCCTGGGCAACGTGGTGAGAGAGGATTCCCTGGCTTGCCTGGCCCGTCGG
202151337	39079	NM_014191.3(SCN8A):c.5302A>G (p.Asn1768Asp)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51806788	GTGAACATGTACATTGCCATCATCCTGGAGAACTTCAGTGTAGCCACAGAGGAAAGTGCAG
80356787	24101	NM_001876.3(CPT1A):c.1079A>G (p.Glu360Gly)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	germline	11	68784899	ATGGGCGGCTGCTGAAGCCCCGGGAGATGGAGCAGCAGATGCAGAGGATCCTGGACAATAC
-1	438527	NM_016058.3(TPRKB):c.446A>G (p.Tyr149Cys)	TPRKB	Oct 27, 2017	MedGen:CN570507,OMIM:617731	GALLOWAY-MOWAT SYNDROME 5	germline	2	73730025	TCATAATTTGTCTTTCATTTTTACAGATATATAAACTCTCTTCACAAGAAGAAAGTATTGG
137852406	25236	NM_000132.3(F8):c.940A>G (p.Thr314Ala)	F8	Oct 01, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969400	TCCTTGGAAATCTCGCCAATAACTTTCCTTACTGCTCAAACACTCTTGATGGACCTTGGAC
121434597	28781	NM_000316.2(PTH1R):c.668A>G (p.His223Arg)	PTH1R	Sep 05, 1996	MedGen:C0265295,OMIM:156400,Orphanet:ORPHA33067,SNOMED CT:24629003	Metaphyseal chondrodysplasia, Jansen type	germline	3	46898691	GGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCG
786204132	185965	NM_014946.3(SPAST):c.1165A>G (p.Thr389Ala)	SPAST	Oct 29, 2014	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline	2	32127014	TTACTCTTTGGTCCACCTGGGAATGGGAAGACAATGCTGGTAAGGGTTCTCTTCAAATTTG
121909663	31291	NM_000145.3(FSHR):c.1345A>G (p.Thr449Ala)	FSHR	Apr 01, 2004	MedGen:C0085083,OMIM:608115,Orphanet:ORPHA64739,SNOMED CT:129635004	Ovarian hyperstimulation syndrome	germline	2	48963476	GGGGCAGGCTGTGATGCTGCTGGCTTTTTCACTGTCTTTGCCAGTGAGCTGTCAGTCTACA
121912565	23602	NM_000901.4(NR3C2):c.2327A>G (p.Gln776Arg)	NR3C2	Jun 01, 2003	MedGen:C1449842,OMIM:177735,Orphanet:ORPHA171871	Pseudohypoaldosteronism type 1 autosomal dominant	germline	4	148154589	TCTCCACGCTCAACCGCTTAGCAGGCAAACAGATGATCCAAGTCGTGAAGTGGGCAAAGGT
74315301	23459	NM_000396.3(CTSK):c.990A>G (p.Ter330Trp)	CTSK	Aug 30, 1996	MedGen:C0238402,OMIM:265800,Orphanet:ORPHA763,SNOMED CT:89647000	Pyknodysostosis	germline	1	150796799	TGCCAACCTGGCCAGCTTCCCCAAGATGTGACTCCAGCCAGCCAAATCCATCCTGCTCTTC
782792356	360564	NM_018196.3(TMLHE):c.359-2A>G	TMLHE	Oct 17, 2016	MedGen:CN517202	not provided	germline	X	155514267	ATTATAGTGCCTTTTATTTTTCCCCTTAAAAGGGCCAGATGGTCATGTGACTAAATATGAT
864321643	224907	NM_000551.3(VHL):c.293A>G (p.Tyr98Cys)	VHL	Feb 26, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10142140	GGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCG
121908888	21459	NM_003060.3(SLC22A5):c.632A>G (p.Tyr211Cys)	SLC22A5	Jan 13, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline;unknown	5	132384281	TCCTTGTAGGCATGGGCCAGATCTCCAACTATGTGGCAGCATTTGTCCTGGGTATGGCCAT
199472957	78211	NM_000238.3(KCNH2):c.1886A>G (p.Asn629Ser)	KCNH2	May 09, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150951507	TCAGCAGCCTCACCAGTGTGGGCTTCGGCAACGTCTCTCCCAACACCAACTCAGAGAAGAT
-1	444321	NM_017890.4(VPS13B):c.11571-2A>G	VPS13B	Jul 04, 2017	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline	8	99871446	GCCCCTGGCCTCACTTTTCTCCTTTTAAACAGGAAAATGCTTCAGTCTCTGGGCAGACCAG
794727649	194493	NM_022124.5(CDH23):c.146-2A>G	CDH23	Jul 30, 2014	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71510080	TTTCCCTCTGCTCTCTCCCTTGGCTACTCCAGGTTCTTCTGTGACCCAGTTGCTGGCCCAA
879254670	245780	NM_000527.4(LDLR):c.767A>G (p.Asp256Gly)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11106637	GAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGA
-1	425329	NM_001001430.2(TNNT2):c.817A>G (p.Lys273Glu)	TNNT2	Sep 28, 2017	MedGen:CN517202	not provided	germline	1	201359627	GTTCTCCGAAACAGGATCAACGATAACCAGAAAGTGTAAGTGTCTGAGGTCATTCTCGCCT
587777101	102960	NM_001130010.2(C15orf41):c.281A>G (p.Tyr94Cys)	C15orf41	Feb 20, 2014	MedGen:C3810185,OMIM:615631	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib	germline	15	36657840	TTTTCTACTTCTGTTTTATAAAGGTGGACTATGCGCCCTCATTAATGGCTCGGCTTATACT
137852570	24853	NM_000044.4(AR):c.2362A>G (p.Met788Val)	AR	May 01, 1992	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67721876	AAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGC
775802030	195260	NM_000553.5(WRN):c.561A>G (p.Lys187=)	WRN	Oct 14, 2014	MedGen:C0043119,OMIM:277700,Orphanet:ORPHA902,SNOMED CT:51626007	Werner syndrome	germline	8	31067089	TAACAGTCTGGTTAAACACCTCTTAGGTAAACAGCTCCTGAAAGACAAGTCTATCCGCTGT
727504140	178043	NM_006920.4(SCN1A):c.2557-2A>G	SCN1A	Apr 29, 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	germline	2	166038134	ATACAAATATATATTAATCTTTCATTTTCCAGCTGCGAGTTTTCAAGTTGGCAAAATCTTG
397514584	48367	NM_001866.2(COX7B):c.41-2A>G	COX7B	Dec 10, 2012	MedGen:C3550921,OMIM:300887	Linear skin defects with multiple congenital anomalies 2	germline	X	77902641	GCTTCTGTATTCTTTTTTCGTTTTCCTGTAAGTTCGAAGCATTCAGCAAACAATGGCAAGG
387906915	39450	NM_024022.2(TMPRSS3):c.308A>G (p.Asp103Gly)	TMPRSS3	Feb 01, 2002	MedGen:C1832827,OMIM:601072,OMIM:605316	Deafness, autosomal recessive 8	germline	21	42388943	ACGGAGTCTCGGATTGCAAAGACGGGGAGGACGAGTACCGCTGTGGTAAGGTCATGGCTCT
121908023	18788	NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys)	ALG9	Jul 15, 2005	MedGen:C2931006,OMIM:608776,Orphanet:ORPHA79328,SNOMED CT:720978005	ALG9 congenital disorder of glycosylation	germline	11	111853415	TGGTGATTGCACCACTCAACATTGTTTTGTATAATGTCTTTACTCCTCATGGACCTGATCT
-1	434184	NM_000527.4(LDLR):c.-150A>G	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089399	AGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTC
121912612	16453	NM_001041.3(SI):c.350A>G (p.Gln117Arg)	SI	Jun 29, 2001	MedGen:C1283620,OMIM:222900,Orphanet:ORPHA35122,SNOMED CT:360854006,SNOMED CT:78373000	Sucrase-isomaltase deficiency	germline	3	165069101	TCTTCGTTGATAATCATGGTTATAACGTTCAAGACATGACAACAACAAGTATTGGTAAGAA
793888530	481724	NM_005859.4(PURA):c.1A>G (p.Met1Val)	PURA	Dec 26, 2017	MedGen:CN517202	not provided	germline	5	140114182	GGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGG
199588390	206629	NM_033409.3(SLC52A3):c.62A>G (p.Asn21Ser)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	765713	TCTTCGGAATGGGCTCCTGGGTGACCATCAATGGGCTCTGGGTAGAGCTGCCCCTGCTGGT
398123210	98461	NM_000169.2(GLA):c.509A>G (p.Asp170Gly)	GLA	Nov 06, 2012	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101401670	CTGACTGGGGAGTAGATCTGCTAAAATTTGATGGTTGTTACTGTGACAGTTTGGAAAATTT
281865005	47665	NM_024312.4(GNPTAB):c.2867A>G (p.His956Arg)	GNPTAB	May 10, 2012	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	not provided	12	101761612	TTGGATTCACATCGCGGAAAGTCCCTGCTCACATGCCTCACATGATTGACCGGATTGTTAT
1057517685	359153	NM_020810.3(TRMT5):c.1156A>G (p.Met386Val)	TRMT5	Dec 27, 2017	MedGen:C4225290,OMIM:616539,Orphanet:ORPHA477684	Combined oxidative phosphorylation deficiency 26	germline	14	60975763	AAAGAAAGAAAACCCTCTGTGCACGTTGTCATGAACTTGCCAGCAAAAGCTATAGAGTTTC
121909184	23054	NM_001089.2(ABCA3):c.1702A>G (p.Asn568Asp)	ABCA3	Mar 25, 2004	MedGen:C1970456,OMIM:610921,Orphanet:ORPHA440402	Surfactant metabolism dysfunction, pulmonary, 3	germline	16	2299442	GAGGGACAGATCACCGTCCTGCTGGGCCACAACGGTGCCGGGAAGACCACCACCCTCTCCA
794728244	360174	NM_000138.4(FBN1):c.6164-2A>G	FBN1	Nov 09, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48437919	CAACTGAAGGGTGTCATAAATTTATGCTGCAGATTTGCGAATGAGCTACTGTTATGCGAAG
398122990	97615	NM_000133.3(F9):c.278-3A>G	F9	Nov 06, 2009	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139541073	CGTGCCAATTCAATTTCTTAACCTATCTCAAAGATGGAGATCAGTGTGAGTCCAATCCATG
77722678	31388	NM_000142.4(FGFR3):c.1619A>G (p.Asn540Ser)	FGFR3	Sep 26, 2013	MedGen:C0410529,OMIM:146000,Orphanet:ORPHA429,SNOMED CT:205468002	Hypochondroplasia	germline	4	1805643	AGATGATCGGGAAACACAAAAACATCATCAACCTGCTGGGCGCCTGCACGCAGGGCGGTAG
375644378	440089	NM_025132.3(WDR19):c.817A>G (p.Asn273Asp)	WDR19	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal;unknown	4	39205663	GAGCTTGGTCAAGAGATATTTCAGGCTCGTAACCATAAAGATAATCTAACCAGCATTGCAG
763983337	424506	NM_001042492.2(NF1):c.1722-2A>G	NF1	Mar 17, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	unknown	17	31223442	TGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGA
104893834	23614	NM_004407.3(DMP1):c.1A>G (p.Met1Val)	DMP1	Oct 01, 2015	MedGen:C0342643,OMIM:241520,SNOMED CT:90505000;MedGen:CN517202	Autosomal recessive hypophosphatemic vitamin D refractory rickets;not provided	germline	4	87656493	TCATTCCAGGTAGAGGTATCACACCCAACTATGAAGATCAGCATCCTGCTCATGTTCCTTT
875989902	245623	NM_000527.4(LDLR):c.533A>G (p.Asp178Gly)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105439	ACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTA
199472847	78153	NM_000238.3(KCNH2):c.173A>G (p.Glu58Gly)	KCNH2	Sep 19, 2016	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150974845	TCTGCGAGCTGTGCGGCTACTCGCGGGCCGAGGTGATGCAGCGACCCTGCACCTGCGACTT
267607102	20277	NM_007375.3(TARDBP):c.787A>G (p.Lys263Glu)	TARDBP	Sep 15, 2009	MedGen:C3150170	FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED	germline	1	11022196	ATCAGCGTTCATATATCCAATGCCGAACCTAAGCACAATAGCAATAGACAGTTAGAAAGAA
779149681	424937	NM_017613.3(DONSON):c.1047-9A>G	DONSON	Aug 04, 2017	MedGen:CN373593,OMIM:617604;MedGen:C1855079,OMIM:251230	MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;Microcephaly-micromelia syndrome	not provided	21	33582064	GCTTGTGAAATAGGGACTCTAACTGTAGCAATTTCCTAGGGAGCAAGCCATCAGTGATGAG
267607777	95888	NM_000249.3(MLH1):c.884+4A>G	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37017603	AAACACACACCCATTCCTGTACCTCAGGTAATGTAGCACCAAACTCCTCAACCAAGACTCA
759218713	361786	NM_016011.4(MECR):c.854A>G (p.Tyr285Cys)	MECR	Jan 07, 2017	MedGen:C4310634,OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	germline	1	29196235	TTTTCAGGCGTGGAGGAACCATGGTAACCTATGGGGGGATGGCCAAGCAGCCCGTCGTAGC
28939683	22420	NM_172107.3(KCNQ2):c.851A>G (p.Tyr284Cys)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63439674	CGCTGACCACCATTGGCTACGGGGACAAGTACCCCCAGACCTGGAACGGCAGGCTCCTTGC
111033809	36648	NM_000155.3(GALT):c.1001A>G (p.Lys334Arg)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649506	CTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCA
886041030	23649	NM_000256.3(MYBPC3):c.2309-26A>G	MYBPC3	Mar 01, 1997	MedGen:C1861862,OMIM:115197	Familial hypertrophic cardiomyopathy 4	germline	11	47337820	TTACTCAAGGCCCTGAGCGGGGCAGGGCTGATGTGGGTCCATCCCACCCCATCCAGACGTG
121909653	31302	NM_182925.4(FLT4):c.3104A>G (p.His1035Arg)	FLT4	Aug 01, 2000	MedGen:C1704423,OMIM:153100,Orphanet:ORPHA79452,SNOMED CT:399889006	Hereditary lymphedema type I	germline	5	180616482	CCTGCCGCCTCCCCGCACCCCAGTGCATCCACAGAGACCTGGCTGCTCGGAACATTCTGCT
398122699	97130	NM_007294.3(BRCA1):c.5468-2A>G	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43045804	CACTAATCTCTGCTTGTGTTCTCTGTCTCCAGCAATTGGGCAGATGTGTGAGGCACCTGTG
193922592	45475	NM_000545.6(HNF1A):c.1A>G (p.Met1Val)	HNF1A	Sep 19, 2016	MedGen:C1838100,OMIM:600496;MedGen:CN517202	Maturity-onset diabetes of the young, type 3;not provided	germline	12	120978769	CGGGCCGCGTGGCCCTGTGGCAGCCGAGCCATGGTTTCTAAACTGAGCCAGCTGCAGACGG
606231409	150305	NM_000216.3(ANOS1):c.1A>G (p.Met1Val)	ANOS1	May 01, 2013	MedGen:C1563719,OMIM:308700	Kallmann syndrome 1	germline	X	8732036	CGCCCTCGCCCTCGCCCTCGACCCGCAGCCATGGTGCCCGGGGTGCCCGGCGCGGTCCTGA
747912710	408505	NM_018082.5(POLR3B):c.2084-6A>G	POLR3B	Oct 13, 2017	MedGen:CN517202	not provided	germline	12	106454496	GAATGTTGTATTTTGTTTTCTCCCATATCAATGCAGGTACTATAGGATACAACCAGCGAAA
201124247	68071	NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly)	CFTR	May 11, 2016	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117592008	CTTCTAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAG
886041594	263992	NM_015284.3(SZT2):c.8655-2A>G	SZT2	Mar 04, 2016	MedGen:CN517202	not provided	germline	1	43445892	CTCATCCTCTTATCCCTCCTCCTTTTCTATAGCACCAGCCGGCCACGGGCCATGGCTATCC
1114167354	248696	NM_019619.3(PARD3):c.2348A>G (p.Asp783Gly)	PARD3	May 01, 2016	Human Phenotype Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED CT:253098009	Neural tube defect	maternal	10	34341696	TCTCTGACCAGTCCTCTTCCAGCTCCCATGATGATGTGGGGTTTGTGACGGCAGATGCTGG
267608412	165842	NM_004992.3(MECP2):c.27-2A>G	MECP2	Dec 03, 2007	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:CN517202	Rett syndrome;not provided	unknown	X	154032559	TGTGATACTTACATACTTGTTTAACACTTCAGGGAAGAAAAGTCAGAAGACCAGGACCTCC
-1	432195	NM_000444.5(PHEX):c.2148-2A>G	PHEX	Nov 06, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22247849	TATGACATATGCTTTGACATATCGTTTTTCAGGGTCAATGGTGCAATTAGTAACTTTGAAG
1060500312	402492	NM_000267.3(NF1):c.6365-2A>G	NF1	Nov 30, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31337366	CTGTCTTTACTTGTTCCTTTATTCTCTTACAGAAGAGACCAAGCAAGTTTTGAGACTCAGT
104893777	28065	NM_000539.3(RHO):c.569A>G (p.Asp190Gly)	RHO	Aug 01, 1991	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129532289	CCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAA
267606987	28779	NM_198965.1(PTHLH):c.534A>G (p.Ter178Trp)	PTHLH	Mar 12, 2010	MedGen:C3150644,OMIM:613382	Brachydactyly type E2	germline	12	27958559	TTCTCTTCCTTCTTTTTGCAGGAGGCATTGAAATTTTCAGCAGAGACCTTCCAAGGACATA
72558467	103254	NM_000531.5(OTC):c.929A>G (p.Glu310Gly)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411923	TTTTACACTGCTTGCCCAGAAAGCCAGAAGAAGTGGATGATGAAGTCTTTTATTCTCCTCG
199472754	67817	NM_000218.2(KCNQ1):c.964A>G (p.Thr322Ala)	KCNQ1	Oct 09, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2583477	ACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCT
483352872	94317	NC_000007.14:g.62535490A>G	-	Feb 15, 2013	MedGen:C2748571,OMIM:612781,Orphanet:ORPHA231671	Isolated growth hormone deficiency type 1B	inherited	7	62535490	TATATGGAGAGTTTTGAGGCCTGTGGTTGAAATGGAAATATCTTCACAGAAAAACTAGACA
886039730	260129	NM_004483.4(GCSH):c.1A>G (p.Met1Val)	GCSH	Aug 23, 2016	MedGen:CN517202	not provided	germline	16	81096278	TAGCGCTGCGACCCCCGCACCCCTGCGAACATGGCGCTGCGAGTGGTGCGGAGCGTGCGGG
118203986	16366	NM_012073.4(CCT5):c.440A>G (p.His147Arg)	CCT5	Oct 06, 2016	MedGen:C1850395,OMIM:256840,Orphanet:ORPHA139578;MedGen:CN517202	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive;not provided	germline	5	10256063	ATGAGCAGGCTGCTCGTGTTGCTATTGAACACCTGGACAAGATCAGCGATAGCGTCCTTGT
-1	481837	NM_003165.3(STXBP1):c.170-2A>G	STXBP1	Jan 31, 2018	MedGen:CN517202	not provided	germline	9	127658373	TCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAG
104894602	21730	NM_005450.4(NOG):c.665A>G (p.Tyr222Cys)	NOG	Sep 01, 2001	Human Phenotype Ontology:HP:0100264,MedGen:C1861385,OMIM:185800,Orphanet:ORPHA3250;MedGen:C1861305,OMIM:186570	Cushing's symphalangism;Tarsal carpal coalition syndrome	germline	17	56594888	GCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTG
113994144	34072	NM_000920.3(PC):c.1705A>G (p.Thr569Ala)	PC	Jul 21, 2011	MedGen:C0034341,OMIM:266150,SNOMED CT:87694001	Pyruvate carboxylase deficiency	not provided	11	66852559	AACCACCCGGGGCTGCTGCTGATGGACACGACCTTCAGGGACGCCCACCAGTCACTGCTGG
121917868	15492	NM_000097.5(CPOX):c.1210A>G (p.Lys404Glu)	CPOX	Jun 26, 2017	MedGen:C0342859;MedGen:CN517202	Harderoporphyria;not provided	germline	3	98581474	GAATTTAATCTGCTGTATGATCGGGGCACAAAGTTTGGCCTCTTCACTCCAGGATCCAGAA
398123262	98567	NM_000232.4(SGCB):c.1A>G (p.Met1Val)	SGCB	Jan 30, 2013	MedGen:C1858593,OMIM:604286,Orphanet:ORPHA119	Limb-girdle muscular dystrophy, type 2E	germline	4	52038259	GGGGAGCTCGGCGGCGGCGGGCGCGGGAAGATGGCGGCAGCGGCGGCGGCGGCTGCAGAAC
111033786	45904	NM_000155.3(GALT):c.950A>G (p.Gln317Arg)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649455	CAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCT
121918230	16475	NM_015697.7(COQ2):c.890A>G (p.Tyr297Cys)	COQ2	Jun 07, 2016	MedGen:CN229570,Orphanet:ORPHA35656;MedGen:C1843920,OMIM:607426	Coenzyme Q10 deficiency, primary;Coenzyme Q10 deficiency, primary 1	germline	4	83269882	ATTTTTCTGGAGTTATGTGGACACTAATATATGATACTATTTATGCCCATCAGGTAAAGAA
1060499547	361696	NM_007313.2(ABL1):c.734A>G (p.Tyr245Cys)	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	Abnormality of skeletal morphology;CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME;Congenital heart disease;Failure to thrive	germline	9	130862890	CAGCCCCAAAGCGCAACAAGCCCACTGTCTATGGTGTGTCCCCCAACTACGACAAGTGGGA
373725296	414366	NM_001204.6(BMPR2):c.2708A>G (p.Asn903Ser)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202556373	GGCCACTAGAAGGTGGCCGAACTAATTCCAATAACAACAACAGCAATCCATGTTCAGAACA
387906825	39184	NM_000414.3(HSD17B4):c.650A>G (p.Tyr217Cys)	HSD17B4	Aug 13, 2010	MedGen:C0685838,OMIM:233400,Orphanet:ORPHA2855,SNOMED CT:93466004	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	germline	5	119489219	CAGATCTTGTGGAAGCCCTGAAGCCAGAGTATGTGGCACCTCTTGTCCTTTGGCTTTGTCA
886040940	262835	NM_000059.3(BRCA2):c.7618-2A>G	BRCA2	Apr 22, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32357740	TTTTCTTTTTTGTGTGTGTTTATTTTGTGTAGCTGTATACGTATGGCGTTTCTAAACATTG
773906241	433544	NM_000135.3(FANCA):c.1226-2A>G	FANCA	Apr 10, 2017	MedGen:CN169374	not specified	germline	16	89791538	CTTGCTGTGACTATGTCATGGTTCTTAACTAGACTGGGTGGCGCGTTTGATGGCCCAGGCA
267606604	15398	NM_000267.3(NF1):c.5944-5A>G	NF1	Jun 22, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1834235,OMIM:162210;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1	germline	17	31336328	TGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGATCTGCTTGATGTTGTACT
267608001	427162	NM_000251.2(MSH2):c.2211-2A>G	MSH2	Mar 03, 2015	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47478270	GATGGGAAATTTCATGTAATTATGTGCTTCAGGTCTGCAACCAAAGATTCATTAATAATCA
75389940	22254	NM_000492.3(CFTR):c.3700A>G (p.Ile1234Val)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117627753	AATGCCATATTAGAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAGGGTGAGATTTGAAC
72653760	427040	NM_001171.5(ABCC6):c.1108A>G (p.Asn370Asp)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16202069	GCCTGCCTGCAAACGCTGTTTGAGCAGCAGAACATGTACAGGCTCAAGGTGCTGCAGATGA
121913512	28905	NM_000222.2(KIT):c.1924A>G (p.Lys642Glu)	KIT	May 31, 2016	MedGen:C0278701;Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;MedGen:C2674636;Human Phenotype Ontology:HP:0004377,MeSH:D019337,MedGen:C0376545,SNOMED CT:129154003;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004	Adenocarcinoma of stomach;Gastrointestinal stroma tumor;Gastrointestinal stromal tumor, familial;Hematologic neoplasm;Malignant melanoma;Malignant melanoma of skin	germline;somatic	4	54728055	ACAGAACGGGAAGCCCTCATGTCTGAACTCAAAGTCCTGAGTTACCTTGGTAATCACATGA
62517165	108630	NM_000277.2(PAH):c.913-7A>G	PAH	Apr 18, 2016	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102846958	CAGGAACAGAACAGGTTCTATTTTCCCCCAATTACAGGAAATTGGCCTTGCCTCTCTGGGT
397507174	46830	NM_000060.4(BTD):c.629A>G (p.Tyr210Cys)	BTD	Jul 16, 2014	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	germline	3	15644485	TCAGCAATAATGGAACCCTTGTTGACCGCTACCGTAAACACAACCTCTACTTTGAGGCAGC
878854355	205364	NM_001017980.3(VMA21):c.*6A>G	VMA21	Mar 01, 2013	MedGen:C1839615,OMIM:310440,Orphanet:ORPHA25980	Myopathy, X-linked, with excessive autophagy	germline	X	151405064	GTGGCGTGAAGGCAAACAGGATTAAAGTGAACATCACCTTTTTATAGCATTAAATTCATTT
397518469	94308	NM_000833.4(GRIN2A):c.1123-2A>G	GRIN2A	Sep 01, 2013	MedGen:C1832814,OMIM:245570	Epilepsy, focal, with speech disorder and with or without mental retardation	germline	16	9849963	AGCACAGCTGTGTCTTTGTGTTTGTGCTGCAGGTGGGCAAGTGGGAGAACCATACGCTGAG
121964957	47474	NM_000282.3(PCCA):c.862A>G (p.Arg288Gly)	PCCA	May 17, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	not provided	13	100268731	AAACATGGGAATGCTTTATGGCTTAATGAAAGAGAGTGCTCAATTCAGAGAAGAAATCAGA
730881044	179033	NM_005633.3(SOS1):c.1430A>G (p.Gln477Arg)	SOS1	Aug 30, 2013	MedGen:CN517202	not provided	germline	2	39022998	TAATGATTTGCTGTAAATCAAATCATGGGCAGCCAAGACTTCCTGGTGCTAGCAATGCAGA
758727391	440204	NM_001080463.1(DYNC2H1):c.11291A>G (p.Gln3764Arg)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	11	103304608	TTTTTTTGCTTTTGTAGGTTGCCATGGGTCAAGGTCAAGCTGATTTAGCAATTCAAATGCT
376785840	125893	NM_001282227.1(ADA2):c.1232A>G (p.Tyr411Cys)	ADA2	Mar 06, 2014	MedGen:C3887654,OMIM:615688	Polyarteritis nodosa, childhoood-onset	germline	22	17181904	CAGCTATGTTTGGTGCCAAAGGCTTGTCCTATGATTTCTATGAGGTCTTCATGGGCATTGG
397516801	53770	NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg)	PTPN11	Feb 03, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	12	112450389	GTGATTACTATGACCTGTATGGAGGGGAGAAATTTGCCACTTTGGCTGAGTTGGTCCAGTA
80338962	20936	NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	SCN4A	Apr 06, 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	63941508	ATCATCATCTCCTTCCTCATCGTGGTCAACATGTACATCGCCATCATCCTGGAGAACTTCA
80356672	33972	NM_000207.2(INS):c.323A>G (p.Tyr108Cys)	INS	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	2159862	GCATCTGCTCCCTCTACCAGCTGGAGAACTACTGCAACTAGACGCAGCCCGCAGGCAGCCC
1064793022	406489	NM_000038.5(APC):c.835-8A>G	APC	Jan 29, 2015	MedGen:CN517202	not provided	germline	5	112815487	GTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCA
151148854	57554	NM_206933.2(USH2A):c.12295-2A>G	USH2A	Aug 28, 2012	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215675618	AAGTTATCCCTTTTGCTTCTGTCCTTCTGTAGACATACAACATCTTCAGTGACGGGTTCCT
63750306	33168	NM_000021.3(PSEN1):c.436A>G (p.Met146Val)	PSEN1	Oct 01, 1995	MedGen:C1843013,OMIM:607822	Alzheimer disease, type 3	germline	14	73173663	GCTGCCATCATGATCAGTGTCATTGTTGTCATGACTATCCTCCTGGTGGTTCTGTATAAAT
797044593	188202	NM_002755.3(MAP2K1):c.305A>G (p.Glu102Gly)	MAP2K1	May 14, 2015	MedGen:C3809006,OMIM:615279	Cardiofaciocutaneous syndrome 3	germline	15	66436759	CTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCAT
730880312	24099	NM_001698.2(AUH):c.943-2A>G	AUH	Sep 21, 2010	MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046,SNOMED CT:237950009	3-Methylglutaconic aciduria	germline	9	91214427	TTTTGACATATTTAATATTTTGTTTTTCTTAGACCATTCCAACAAAAGACAGACTTGAAGG
886041670	264645	NM_014191.3(SCN8A):c.4441A>G (p.Met1481Val)	SCN8A	Apr 04, 2016	MedGen:CN517202	not provided	germline	12	51790419	CTCCTTTACTTCGGAGGTCAGGACATCTTCATGACCGAAGAACAGAAGAAGTACTACAATG
759672616	237659	NM_000350.2(ABCA4):c.4773+3A>G	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline;unknown	1	94021843	CCTTGGCCGGATCATGAATGTGAGCGGGGTATGTAAACAGACTGGAGATTTGAGTAGGATT
397515431	48561	NM_004247.3(EFTUD2):c.623A>G (p.His208Arg)	EFTUD2	Feb 19, 2013	MedGen:C1864652,OMIM:610536,Orphanet:ORPHA79113	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	germline	17	44879635	ATGACTTACTTAGTATTTGCTTTTCAGGACATGTGAATTTCTCTGATGAGGTCACAGCTGG
-1	438553	NM_018890.3(RAC1):c.116A>G (p.Asn39Ser)	RAC1	Oct 31, 2017	MedGen:CN580791,OMIM:617751	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48	germline	7	6391932	CCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAA
730880930	179641	NM_000257.3(MYH7):c.1615A>G (p.Met539Val)	MYH7	Sep 26, 2011	MedGen:CN517202	not provided	germline	14	23427858	GGCATCATGTCCATCCTGGAAGAGGAGTGCATGTTCCCCAAGGCCACCGACATGACCTTCA
755416052	186747	NM_000492.3(CFTR):c.3368-2A>G	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117614611	GAGGTTCATTTACGTCTTTTGTGCATCTATAGGAGAAGGAGAAGGAAGAGTTGGTATTATC
1057519721	362830	NM_004972.3(JAK2):c.2047A>G (p.Arg683Gly)	INSL6;JAK2	May 13, 2016	Gene:8009,MedGen:C1855472,OMIM:247640;Human Phenotype Ontology:HP:0005547,MeSH:D009196,MedGen:C0027022,SNOMED CT:425333006	Lymphoblastic leukemia, acute, with lymphomatous features;Myeloproliferative disorder	somatic	9	5078360	AATGTATGTGCCAAAAATATTCTGCTTATCAGAGAAGAAGACAGGAAGACAGGAAATCCTC
137852251	25643	NM_000133.3(F9):c.917A>G (p.Asn306Ser)	F9	Sep 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561602	TGATTCGAATTATTCCTCACCACAACTACAATGCAGCTATTAATAAGTACAACCATGACAT
1131690857	420570	NM_000321.2(RB1):c.2105A>G (p.Gln702Arg)	RB1	May 31, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48459832	ATGAACTCATGAGAGACAGGCATTTGGACCAAGTAAGAAAATCAAGCACTTCACCTTCTCT
878854415	243889	NM_016239.3(MYO15A):c.6178-2A>G	MYO15A	Jun 06, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline;inherited	17	18144495	CTGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCC
137853107	16410	NM_153704.5(TMEM67):c.1538A>G (p.Tyr513Cys)	TMEM67	Feb 23, 2015	MedGen:C1857662,OMIM:216360,Orphanet:ORPHA1454;MedGen:C1853153,OMIM:610688	COACH syndrome;Joubert syndrome 6	germline;unknown	8	93791282	TTAAATATCAGGTTTCTTTCTCAGTCACATATGAAATGGATCATGGAGAAGCACATGTCCA
151340632	26831	NM_000052.6(ATP7A):c.3911A>G (p.Asn1304Ser)	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	78042694	AACGGGTAGCAATGGTGGGAGATGGAATCAATGACTCCCCAGCTCTGGCAATGGCTAATGT
45517382	58497	NM_000548.4(TSC2):c.4952A>G (p.Asn1651Ser)	TSC2	Sep 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	2086834	TGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCAC
879255633	247513	NM_003504.4(CDC45):c.203A>G (p.Gln68Arg)	CDC45	Oct 20, 2016	MedGen:C4310738,OMIM:617063	Meier-gorlin syndrome 7	germline	22	19481044	TTGAAACTGCATTTCTTGAGCATAAAGAACAGGTATTGAAGATGCGTTTTAGAATAACGTG
879255706	247732	NM_014191.3(SCN8A):c.4813A>G (p.Ile1605Val)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51806299	TTCCTCTTCTTAGGAATGTTCCTGGCAGATATAATTGAGAAATACTTTGTTTCCCCAACCC
121917809	33195	NM_000021.3(PSEN1):c.998A>G (p.Asp333Gly)	PSEN1	Jun 24, 2013	MedGen:C3160720,OMIM:613694;MedGen:C0018801;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004	Cardiomyopathy, dilated, 1u;Heart failure;Primary dilated cardiomyopathy	germline;unknown	14	73211811	AGTCACAAGACACTGTTGCAGAGAATGATGATGGCGGGTTCAGTGAGGAATGGGAAGCCCA
137854461	31470	NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser)	FBN1	Aug 09, 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;unknown	15	48437026	CCGATGTCTGTAAACATGGACAGTGCATCAATACAGATGGTTCCTATCGCTGCGAGTGTCC
104893817	27556	NM_003242.5(TGFBR2):c.1273A>G (p.Met425Val)	TGFBR2	Jan 01, 2006	MedGen:C2674876,OMIM:610168	Loeys-Dietz syndrome 2	germline	3	30674123	TTTTTGCTATAGGTGGGAACTGCAAGATACATGGCTCCAGAAGTCCTAGAATCCAGGATGA
121913594	29218	NM_000530.7(MPZ):c.242A>G (p.His81Arg)	MPZ	May 28, 2015	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003;MedGen:CN517202	Charcot-Marie-Tooth disease, demyelinating, type 1b;not provided	germline	1	161306914	ATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGA
-1	445471	NM_000057.3(BLM):c.2308-2A>G	BLM	Nov 19, 2015	MedGen:CN517202	not provided	germline	15	90769131	GTTTTTACATGTCTAATGTATTTCTGGCCTAGATCTGTGCAAGTAACAGACTCATTTCTAC
374349989	40033	NM_024809.4(TCTN2):c.1506-2A>G	TCTN2	Jun 14, 2016	MedGen:C3836857,OMIM:613885;MedGen:CN239412	Meckel syndrome type 8;TCTN2-Related Disorders	germline	12	123699702	CATGAGCTGAGAAATGTCTTACTCTCTTGCAGGGAGAATGCTGTTGAAAGACTTGATTCAT
796053439	202575	NM_000391.3(TPP1):c.833A>G (p.Gln278Arg)	TPP1	Feb 10, 2015	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349;MedGen:CN517202	Ceroid lipofuscinosis neuronal 2;not provided	germline;unknown	11	6616714	GGGCCGGGATTGAGGCCAGTCTAGATGTGCAGTACCTGATGAGTGCTGGTGCCAACATCTC
770003315	434934	NM_173701.1(WARS):c.770A>G (p.His257Arg)	WARS	Oct 18, 2017	MedGen:CN547335,OMIM:617721	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX	germline	14	100346802	TCTACAAAAATGTGGTGAAGATTCAAAAGCATGTTACCTTCAACCAAGTGAAAGGCATTTT
28933685	25726	NM_000266.3(NDP):c.1A>G (p.Met1Val)	NDP	Jan 01, 1995	MedGen:C0266526,OMIM:310600,SNOMED CT:15228007	Atrophia bulborum hereditaria	germline	X	43958645	GTTCTTCTAGAGAAGTTTTTCCTTACAACAATGAGAAAACATGTACTAGCTGCATCCTTTT
143889283	75253	NM_003793.3(CTSF):c.692A>G (p.Tyr231Cys)	CTSF	Apr 01, 2013	MedGen:C3715049,OMIM:615362,Orphanet:ORPHA352709	Ceroid lipofuscinosis, neuronal, 13	germline	11	66566320	TCCAGGCCCTGGACCGTGGCACAGCTCAGTATGGAGTCACCAAGTTCAGTGATCTCACAGG
386834207	16406	NM_153704.5(TMEM67):c.870-2A>G	TMEM67	Feb 01, 2006	MedGen:C1846357,OMIM:607361	Meckel syndrome type 3	germline	8	93780872	TCCATTATTAAAACAGTTGTAACTGTTTATAGGAGACAGAATCTTCCTTGGCTGTTTTATG
137852331	25432	NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)	G6PD	Dec 01, 2016	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;MedGen:C1851319,OMIM:134700;na;MedGen:CN169374	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Favism, susceptibility to;G6PD TAIWAN-HAKKA 2;not specified	germline	X	154534489	ACGCAGCTCCGGGCTCCCAGCAGAGGCTGGAACCGCATCATCGTGGAGAAGCCCTTCGGGA
375145370	365720	NM_001271208.1(NEB):c.9619-2A>G	NEB	Nov 15, 2017	MedGen:C1850569,OMIM:256030;MedGen:CN517202	Nemaline myopathy 2;not provided	germline;paternal	2	151630821	ATTTTTAATCAGCATCTTATCTTCTTTTATAGCGTTTATACACAGAGGCCTGGGACAAAGA
121434521	19112	NM_015474.3(SAMHD1):c.760A>G (p.Met254Val)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36919456	CTTATTAATTCTAATGGAATTAAGCCTGTCATGGAACAATATGGTCTCATCCCTGAAGAAG
387906817	39167	NM_005257.5(GATA6):c.1354A>G (p.Thr452Ala)	GATA6	Dec 11, 2011	MedGen:C1838780,OMIM:600001	Pancreatic agenesis and congenital heart disease	germline	18	22181504	TTGTCCTGTGCCAACTGTCACACCACAACTACCACCTTATGGCGCAGAAACGCCGAGGGTG
137852457	25347	NM_000132.3(F8):c.6278A>G (p.Asp2093Gly)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154896228	AAATAAAGTGTTATTTTAATTGGTAGGTGGATCTGTTGGCACCAATGATTATTCACGGCAT
63750590	33163	NM_000021.3(PSEN1):c.488A>G (p.His163Arg)	PSEN1	Apr 17, 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	73186860	TATTGAAATGCTTTCTTTTCTAGGTCATCCATGCCTGGCTTATTATATCATCTCTATTGTT
397515937	51755	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Sep 14, 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;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Left ventricular noncompaction 10;Primary familial hypertrophic cardiomyopathy;not provided	germline;unknown	11	47339792	CGTTTCTCTGAACTACATTGTGTCTTCTGCAGAACCTCCCAAGATCCACCTGGACTGCCCA
62635294	77482	NM_005554.3(KRT6A):c.511A>G (p.Asn171Asp)	KRT6A	Feb 15, 2016	MedGen:C3714948,OMIM:615726;MedGen:CN517202	Pachyonychia congenita 3;not provided	germline	12	52492678	GCTGAGGAGCGTGAACAGATCAAGACCCTCAACAACAAGTTTGCCTCCTTCATCGACAAGG
121912666	133276	NM_000546.5(TP53):c.659A>G (p.Tyr220Cys)	TP53	Jul 12, 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: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;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;MeSH:C538614,MedGen:C1336078;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;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MedGen:CN517202	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;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;Papillary renal cell carcinoma, sporadic;Renal cell carcinoma, papillary, 1;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;not provided	germline;somatic	17	7674872	ACACTTTTCGACATAGTGTGGTGGTGCCCTATGAGCCGCCTGAGGTCTGGTTTGCAACTGG
104893635	29913	NM_000523.3(HOXD13):c.974A>G (p.Gln325Arg)	HOXD13	Feb 01, 2007	MedGen:C1861348,OMIM:186300,Orphanet:ORPHA93406	Syndactyly, type V	germline	2	176094672	TATCTGAGAGACAAGTGACCATTTGGTTTCAGAACCGAAGAGTGAAGGACAAGAAAATTGT
878853235	237613	NM_000260.3(MYO7A):c.620A>G (p.Asn207Ser)	MYO7A	Feb 19, 2016	MedGen:C1838701,OMIM:600060	Deafness, autosomal recessive 2	germline	11	77156889	CAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACAT
886041638	264415	NM_000368.4(TSC1):c.914-2A>G	TSC1	Jul 20, 2016	MedGen:CN517202	not provided	germline	9	132911570	CTAACCCCCTGTGTTCTTCTCTTCCATTTTAGGGTGTGCTACTTCTACCCCTTACTCCACG
121917899	26024	NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys)	PQBP1	Jun 18, 2010	MedGen:C0796135,OMIM:309500,Orphanet:ORPHA3242	Renpenning syndrome 1	germline	X	48901944	TCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTG
387907270	45733	NM_005349.3(RBPJ):c.188A>G (p.Glu63Gly)	RBPJ	Aug 10, 2012	MedGen:C3553748,OMIM:614814	Adams-Oliver syndrome 3	germline	4	26406264	CAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTAAGATTATTTTTCTGGTGGATA
1085307193	414124	NM_001204.6(BMPR2):c.248-2A>G	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467517	GTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAA
267607326	39966	NM_000552.4(VWF):c.3437A>G (p.Tyr1146Cys)	VWF	Jun 10, 2010	MedGen:CN517202;MedGen:C1264040,OMIM:613554,Orphanet:ORPHA166081,SNOMED CT:128107007	not provided;von Willebrand disease type 2	germline	12	6022841	GGGAGAACGGGTATGAGTGTGAGTGGCGCTATAACAGCTGTGCACCTGCCTGTCAAGTCAC
281860272	46937	NM_005211.3(CSF1R):c.2320-2A>G	CSF1R	Aug 30, 2012	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	not provided	5	150056343	CCCAAGACTAACCCTGCAGTGCTTTCCCTCAGTGCATCCACCGGGACGTGGCAGCGCGTAA
104894292	28186	NM_000448.2(RAG1):c.1286A>G (p.Asp429Gly)	RAG1	May 29, 1998	MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006	Histiocytic medullary reticulosis	germline	11	36574590	AAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCT
201471607	237685	NM_000350.2(ABCA4):c.2894A>G (p.Asn965Ser)	ABCA4	Jan 05, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94046943	AGAACCAGATCACCGCATTCCTGGGCCACAATGGAGCTGGGAAAACCACCACCTTGTGAGT
886039339	260276	NM_178153.2(DCX):c.706-2A>G	DCX	May 27, 2015	MedGen:CN517202	not provided	germline	X	111333155	ATATACAATCAGTGTTTCTGCTTTCTCCATAGGTAACTTGTCTCCATGATTTCTTTGGTGA
515726191	136339	NM_015713.4(RRM2B):c.581A>G (p.Glu194Gly)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102218917	GGGAAAGAGTGGTGGCCTTTGCTGCTGTAGAAGGAGTTTTCTTCTCAGGATCTTTTGCTGC
772050759	426872	NM_001171.5(ABCC6):c.3475A>G (p.Arg1159Gly)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16163024	CAGAACAATGCTCGCGTAGATGAAAGCCAGAGGATCAGTTTCCCGCGACTGGTGGCTGACA
587776867	38911	NM_015884.3(MBTPS2):c.1523A>G (p.Asn508Ser)	MBTPS2	Nov 19, 2015	MedGen:C0343057,OMIM:308800,Orphanet:ORPHA2340,SNOMED CT:238626006;MedGen:CN517202	Keratosis pilaris decalvans;not provided	germline	X	21882618	TGCTGGGTGGCAGTGTACTTTTGGCTGCCAATGTGACCCTGGGACTCTGGATGGTTACAGC
121913682	28892	NM_000222.2(KIT):c.2459A>G (p.Asp820Gly)	KIT	Feb 01, 1997	MeSH:D034721,MedGen:C0221013	Mast cell disease, systemic	germline	4	54733167	ATTTTGGTCTAGCCAGAGACATCAAGAATGATTCTAATTATGTGGTTAAAGGAAACGTGAG
772348111	402535	NM_000267.3(NF1):c.7127-2A>G	NF1	Aug 29, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31349118	TGTTTGTTTGTTTGTTTGTTTGTTTTTTGTAGGGTACAGGCATCCTTCACCTGCTATTGTT
80338743	34272	NM_004525.2(LRP2):c.770-2A>G	LRP2	Jun 28, 2011	MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143	Donnai Barrow syndrome	not provided	2	169290999	TGGCCTGTAACTCTCTCTTTTTCCCCCCACAGAAAGCGGTCCTCATGATGTTCATAAATGT
137852419	25265	NM_000132.3(F8):c.1660A>G (p.Ser554Gly)	F8	Mar 08, 2017	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008;MedGen:CN169374	Hereditary factor VIII deficiency disease;not specified	germline	X	154957049	GATCCTCGGTGCCTGACCCGCTATTACTCTAGTTTCGTTAATATGGAGAGAGATCTAGCTT
727503110	48922	NM_004985.4(KRAS):c.65A>G (p.Gln22Arg)	KRAS	Aug 01, 2017	MedGen:C3809005,OMIM:615278;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1860991,OMIM:609942;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202;MedGen:CN169374	Cardiofaciocutaneous syndrome 2;Noonan syndrome;Noonan syndrome 3;Rasopathy;not provided;not specified	germline	12	25245320	GTGGCGTAGGCAAGAGTGCCTTGACGATACAGCTAATTCAGAATCATTTTGTGGACGAATA
111033692	36509	NM_000155.3(GALT):c.424A>G (p.Met142Val)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647878	CACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTG
281865052	47818	NM_198578.3(LRRK2):c.5605A>G (p.Met1869Val)	LRRK2	Sep 13, 2012	MedGen:C1846862,OMIM:607060	Parkinson disease 8, autosomal dominant	not provided	12	40323255	TTGATTTTGGCTGACCTGCCTAGAAATATTATGTTGAATAATGATGAGTTGGAATTTGAAC
397514598	48400	NM_033109.4(PNPT1):c.1160A>G (p.Gln387Arg)	PNPT1	Nov 02, 2012	MedGen:C3554129,OMIM:614932,Orphanet:ORPHA319514	Combined oxidative phosphorylation deficiency 13	germline	2	55667007	TTAAAACCCTTCATGGATCAGCATTATTTCAAAGAGGACAAACACAGGTAATTTATATAAA
587777108	102969	NM_001290048.1(ATL3):c.521A>G (p.Tyr174Cys)	ATL3	Mar 01, 2014	MedGen:C3810194,OMIM:615632	Hereditary sensory neuropathy type IF	germline	11	63646550	ATGCTTCTTTTTTAAAGCTCTTCACAGAATACGGTCGTCTGGCAATGGATGAAATTTTCCA
5030856	15664	NM_000277.2(PAH):c.1169A>G (p.Glu390Gly)	PAH	Jan 03, 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	102843676	CGGAGTTCCAGCCCCTCTATTACGTGGCAGAGAGTTTTAATGATGCCAAGGAGAAAGTAAG
876659521	233673	NM_002485.4(NBN):c.995-2A>G	NBN	Jul 03, 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	89958856	TGATTCTTTCTTTCTACTTGTGTGATTTACAGGATTAAAGACAACAACTCCAGGACCAAGC
28940883	18717	NM_001008216.1(GALE):c.308A>G (p.Asp103Gly)	GALE	Jan 01, 1998	MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004	UDPglucose-4-epimerase deficiency	germline	1	23798160	CCGTGGGCGAGTCGGTGCAGAAGCCTCTGGATTATTACAGAGTTAACCTGACCGGGACCAT
58410481	22962	NM_000223.3(KRT12):c.403A>G (p.Arg135Gly)	KRT12	Dec 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	17	40866784	GAAAAAGAAACTATGCAAAATCTTAATGATAGATTAGCTTCCTACCTGGATAAGGTGCGAG
727502821	172195	NM_172362.2(KCNH1):c.1508A>G (p.Gln503Arg)	KCNH1	Jan 01, 2015	MedGen:C2678486,OMIM:611816,Orphanet:ORPHA420561	Temple-Baraitser syndrome	germline	1	210804121	CCATCTTCGGGAATGTGACGACTATTTTCCAACAGATGTATGCCAACACCAACAGATACCA
138568622	48120	NM_006364.3(SEC23A):c.2104A>G (p.Met702Val)	SEC23A	Aug 01, 2011	MedGen:C1843042,OMIM:607812,Orphanet:ORPHA50814	Craniolenticulosutural dysplasia	germline	14	39040770	GCACAGGAAATTCTTCACTCCAGATTTCCAATGCCAAGATACATTGACACTGAACATGGAG
797045204	206682	NM_017662.4(TRPM6):c.3173A>G (p.Tyr1058Cys)	TRPM6	Apr 01, 2014	MedGen:C1865974,OMIM:602014,Orphanet:ORPHA30924	Hypomagnesemia 1, intestinal	germline	9	74782398	TCTTGCAAGCTGTCTACCTCTTCGTGCAATATATCATCATGGTGAACCTGTTGATTGCTTT
397514719	75083	NM_080605.3(B3GALT6):c.193A>G (p.Ser65Gly)	B3GALT6	Jun 06, 2013	MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED CT:254100000	Spondyloepimetaphyseal dysplasia with joint laxity	germline	1	1232471	GCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCG
281865157	47489	NM_000553.4(WRN):c.2089-3024A>G	WRN	Nov 17, 2011	MedGen:C0043119,OMIM:277700,Orphanet:ORPHA902,SNOMED CT:51626007	Werner syndrome	not provided	8	31108591	CTTAATCAAAGGAAAAATACATTTAAGATTATAAGTCTGGTTATAAGCTTAAAAAGTGACC
5030832	224931	NM_000551.3(VHL):c.362A>G (p.Asp121Gly)	VHL	Feb 26, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10146535	TCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAA
-1	431885	NM_000382.2(ALDH3A2):c.631A>G (p.Lys211Glu)	ALDH3A2	Jun 01, 2017	MedGen:C0037231,OMIM:270200,Orphanet:ORPHA816,SNOMED CT:111303009	Sjögren-Larsson syndrome	germline;not applicable	17	19656525	CTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
876657373	19187	NM_016327.2(UPB1):c.917-2A>G	UPB1	Nov 15, 2004	MedGen:C1291512,OMIM:613161,Orphanet:ORPHA65287,SNOMED CT:124511000	Deficiency of beta-ureidopropionase	germline	22	24523617	GCTCACAGATGTGTTTCTTTGTTCCTTTAAAGCTCACCAGGACTTTGGCTACTTTTATGGC
778094136	75117	NM_015697.7(COQ2):c.382A>G (p.Met128Val)	COQ2	Jun 07, 2016	MedGen:CN229570,Orphanet:ORPHA35656;MedGen:C0037019,OMIM:146500,SNOMED CT:16576004	Coenzyme Q10 deficiency, primary;Shy-Drager syndrome	germline	4	83284533	CCCCGCCCCCTGCAGCCGTACTTGCGCCTCATGCGGTTGGACAAGCCCATTGGTGAGTGCG
75391579	18653	NM_000155.3(GALT):c.563A>G (p.Gln188Arg)	GALT	Oct 20, 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	34648170	TGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTT
267606834	16081	NM_138387.3(G6PC3):c.346A>G (p.Met116Val)	G6PC3	Oct 01, 2010	MedGen:C2751630	Dursun syndrome	germline	17	44074700	TTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAA
587777629	153736	NM_007315.3(STAT1):c.854A>G (p.Gln285Arg)	STAT1	Sep 01, 2013	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	germline	2	190995151	AGCAGCTTAAAAAGTTGGAGGAATTGGAACAGAAATACACCTACGAACATGACCCTATCAC
863224491	213285	NM_000267.3(NF1):c.5749+332A>G	NF1	Jul 28, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline	17	31330830	AGCATTTCTCTTCATAGCAGAAAAGTCCACATAAGTATCCATGTTGCCTCCTTAATTTTAG
104894331	32873	NM_000486.5(AQP2):c.203A>G (p.Asn68Ser)	AQP2	Feb 01, 1997	MedGen:C4015884	Diabetes insipidus, nephrogenic, autosomal recessive	germline	12	49951033	CTCTGGGCCACATAAGCGGGGCCCACATCAACCCTGCCGTGACTGTGGCCTGCCTGGTGGG
312262745	49717	NM_025137.3(SPG11):c.2608A>G (p.Ile870Val)	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44621771	CTAACACAAGAATCCATCCTTCTCCCCAGGATAAGTCCAGAAGGCAAGTGTGAGAGAGCCT
397516743	53594	NM_002294.2(LAMP2):c.65-2A>G	LAMP2	May 21, 2010	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED CT:419097006	Danon disease	germline	X	120456771	TTTTAAAATATTATTTTTTTAAATGAATCCAGGAGCTGTGCGGTCTTATGCATTGGAACTT
28940283	17460	NM_001875.4(CPS1):c.1010A>G (p.His337Arg)	CPS1	Jan 01, 2001	MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004	Congenital hyperammonemia, type I	germline	2	210591893	ACAAACAGGCTTTCATTACTGCTCAGAATCATGGCTATGCCTTGGACAACACCCTCCCTGC
28937313	24527	NM_005502.3(ABCA1):c.2804A>G (p.Asn935Ser)	ABCA1	Aug 01, 1999	MedGen:C0039292,OMIM:205400,Orphanet:ORPHA31150	Tangier disease	germline	9	104822520	AGGGCCAGATCACCTCCTTCCTGGGCCACAATGGAGCGGGGAAGACGACCACCATGTAAGA
61742739	27944	NM_003041.3(SLC5A2):c.1961A>G (p.Asn654Ser)	SLC5A2	Feb 01, 2004	Gene:2759,MedGen:C0017980,OMIM:233100,Orphanet:ORPHA69076,SNOMED CT:226309007	Familial renal glucosuria	germline	16	31490477	GCGAGGACCCGAGCTGGGCCCGTGTGGTCAACCTCAATGCCCTGCTCATGATGGCAGTGGC
137852640	24301	NM_001166107.1(HMGCS2):c.500A>G (p.Tyr167Cys)	HMGCS2	Apr 01, 2003	MedGen:C2751532,OMIM:605911,Orphanet:ORPHA35701	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency	germline	1	119764231	TTGAGGGCATAGATACCACCAATGCCTGCTACGGTGGTACTGCCTCCCTCTTCAATGCTGC
-1	443122	NM_007315.3(STAT1):c.1063A>G (p.Asn355Asp)	STAT1	Oct 19, 2017	MedGen:CN517202	not provided	germline	2	190989649	TCCAGACTGTTGGTGAAATTGCAAGAGCTGAATTATAATTTGAAAGTCAAAGTCTTATTTG
119481079	19919	NM_000197.1(HSD17B3):c.389A>G (p.Asn130Ser)	HSD17B3	Aug 01, 1998	MedGen:C0268296,OMIM:264300,Orphanet:ORPHA752,SNOMED CT:50658006	Testosterone 17-beta-dehydrogenase deficiency	germline	9	96251482	CATTTTTGTTTTGCTTCTTTCTGCCAGTCAACAATGTCGGAATGCTTCCAAACCTTCTCCC
-1	442145	NM_000435.2(NOTCH3):c.1268A>G (p.Tyr423Cys)	NOTCH3	Aug 09, 2016	MedGen:CN517202	not provided	germline	19	15189099	GCTCCTTCCTGTGCCAGTGCGGTCGTGGCTACACTGGACCTCGCTGTGAGACCGATGTCAA
796051882	188197	NM_006017.2(PROM1):c.2077-521A>G	PROM1	Dec 01, 2014	MedGen:CN074280,OMIM:120970	Cone-rod dystrophy 2	inherited	4	15988237	ATGTGATTTGCTGTTCTTCACAGCTTTAGGATATGTATCCAATGTTTTCTTCAGGTTTTCT
1114167293	243991	NM_138425.3(C12orf57):c.53-2A>G	C12orf57	Jan 10, 2016	Human Phenotype Ontology:HP:0007018,MedGen:C1263846,OMIM:143465,SNOMED CT:406506008;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0000126,MedGen:C0020295;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0012585,MedGen:C0341698;Human Phenotype Ontology:HP:0000076,MedGen:C1835578	Attention deficit hyperactivity disorder;Global developmental delay;Hydronephrosis;Intellectual disability;Renal atrophy;Vesicoureteral reflux	inherited	12	6944474	GGACGCCTCCCTGGGATGCTTCTGGCGCGCAGTGGTCCTCGCGGAGGTGATCCAGGCGTTC
-1	478174	NM_000267.3(NF1):c.2326-2A>G	NF1	Dec 30, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31227521	TTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGA
104894962	26477	NM_003413.3(ZIC3):c.1213A>G (p.Lys405Glu)	ZIC3	Jan 01, 2004	MedGen:C1844020,OMIM:306955	Heterotaxy, visceral, X-linked	germline	X	137569054	AAGTCCTACACGCACCCGAGCTCCCTGCGCAAACACATGAAGGTAATTACCTCTTTATTAG
397516822	49064	NM_002880.3(RAF1):c.524A>G (p.His175Arg)	RAF1	May 23, 2013	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006	Noonan syndrome	germline	3	12608823	GTCAGACTTGTGGCTACAAATTTCATGAGCACTGTAGCACCAAAGTACCTACTATGTGTGT
387907250	45607	NM_198253.2(TERT):c.2705A>G (p.Lys902Arg)	TERT	May 26, 2011	MedGen:C3553617,OMIM:614742	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	germline	5	1264542	CTGAGTATGGCTGCGTGGTGAACTTGCGGAAGACAGTGGTGAACTTCCCTGTAGAAGACGA
879254823	246036	NM_000527.4(LDLR):c.1187-2A>G	LDLR	Mar 13, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;not applicable	19	11113276	TGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAAC
1057520655	367004	NM_025216.2(WNT10A):c.650A>G (p.Asp217Gly)	WNT10A	Apr 24, 2015	MedGen:CN517202	not provided	germline	2	218890257	ACTCCTGGGAGTGGGGCGGCTGCAGCCCCGACATGGGCTTCGGGGAGCGCTTTTCTAAGGA
66556380	103076	NM_000531.5(OTC):c.387-2A>G	OTC	-	MedGen:CN517202	not provided	unknown	X	38401273	TCTTAGATTATCTTTTTCTTGGTTTGCCACAGTGTATTGTCTAGCATGGCAGATGCAGTAT
772725807	417095	NM_019098.4(CNGB3):c.1579-2A>G	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86611673	TTTCTATAAGAATTATTTTTCTTTTTATATAGGGTTGTGATACACAGATGATTTATGACAT
797044844	204364	NM_004456.4(EZH2):c.458A>G (p.Tyr153Cys)	EZH2	Aug 06, 2015	MedGen:C0265210,OMIM:277590,SNOMED CT:63119004	Weaver syndrome	germline	7	148829754	GTACTTTCATTGAAGAACTAATAAAAAATTATGATGGGAAAGTACACGGGGATAGAGGTGA
886037956	259241	NM_017644.3(KLHL24):c.1A>G (p.Met1Val)	KLHL24	Mar 27, 2017	MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:90496008;MedGen:C4310631,OMIM:617294;MedGen:CN517202	Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, generalized, with scarring and hair loss;not provided	de novo;germline;not applicable	3	183650357	TCAACAATTATATAGTCAACTGATGTAACAATGGTACTAATATTGGGACGCAGACTAAACA
869320619	190109	NM_000535.6(PMS2):c.2002A>G (p.Ile668Val)	PMS2	May 01, 2015	MedGen:C0265325,OMIM:276300,Orphanet:ORPHA252202,SNOMED CT:61665008	Turcot syndrome	germline	7	5986763	CAAGCAGCCGAAGATGAACTAAGAAAAGAGATAAGGTAAAGTTTTAATTTTTTACTTTTTC
730880444	179877	NM_000169.2(GLA):c.370-2A>G	GLA	Jan 25, 2014	MedGen:CN517202	not provided	germline	X	101401811	AATGGTGACTCTTTTCCTCCCTCTCATTTCAGGTTCACAGCAAAGGACTGAAGCTAGGGAT
532178791	260387	NM_024818.4(UBA5):c.169A>G (p.Met57Val)	UBA5	Oct 06, 2016	MedGen:C4310700,OMIM:617132	Epileptic encephalopathy, early infantile, 44	germline	3	132665830	AACATATTTTTCTTTGTTTTAAGCCGCTTGATGGCATTGAAACGAATGGGAATTGTAAGCG
113994191	214078	NM_033028.4(BBS4):c.406-2A>G	BBS4	Oct 05, 2015	MedGen:C2936864,OMIM:615982	Bardet-Biedl syndrome 4	inherited	15	72722792	TGAGTTGTTTTCCTTCTTTTTTATGAGCCTAGGAGATCAGCCATAACCTAGGAGTTTGCTA
876661319	236859	NM_000271.4(NPC1):c.3127A>G (p.Thr1043Ala)	NPC1	Nov 01, 2015	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23536791	GTCGGAGCCACGTACTTCATGACCTACCACACCGTGCTGCAGACCTCTGCTGACTTTATTG
398123026	59846	NM_003867.3(FGF17):c.560A>G (p.Asn187Ser)	FGF17	May 02, 2013	MedGen:C3808983,OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia	germline	8	22048158	GCCTCTACCAAGGCCAGCTGCCCTTCCCCAACCACGCCGAGAAGCAGAAGCAGTTCGAGTT
1057518904	361009	NM_000267.3(NF1):c.1721+3A>G	NF1	Dec 07, 2016	Human Phenotype Ontology:HP:0007565,MedGen:C1861975,OMIM:114030,Orphanet:ORPHA2678;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0001067,MedGen:C0162678;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Cafe au lait spots, multiple;Hereditary cancer-predisposing syndrome;Neurofibromas;Neurofibromatosis, type 1	germline;unknown	17	31221932	CTCCTGTAGAAACATTTTGGGAGATTAGGTATATGTACTTTTATTTTTTAAATTCAACTTT
397515534	15059	NM_001006657.1(WDR35):c.25-2A>G	WDR35	Sep 10, 2010	MedGen:C3150874,OMIM:613610	Cranioectodermal dysplasia 2	germline	2	19989284	AGTTGCTAGTGCGGCTGTGGTTGCTTTTTCAGATTTCCATTCCCAATAACGTGAAGCTGCA
587777122	106515	NM_005763.3(AASS):c.874A>G (p.Ile292Val)	AASS	Feb 20, 2014	Human Phenotype Ontology:HP:0002161,MedGen:C0268553,OMIM:238700,SNOMED CT:58558003	Hyperlysinemia	germline	7	122116653	GCAGAGTATGACAAACATCCGGAGCGCTACATAAGTCGTTTTAATACTGATGTGAGTATCA
63751297	48619	NM_001128085.1(ASPA):c.433-2A>G	ASPA	Jul 14, 2014	MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005	Spongy degeneration of central nervous system	germline	17	3483497	TACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGT
587777014	71441	NM_001142519.2(FAM111A):c.1012A>G (p.Thr338Ala)	FAM111A	Jun 27, 2013	MedGen:C1865639,OMIM:602361,Orphanet:ORPHA2763	Gracile bone dysplasia	germline	11	59152680	GAATTGCATAGAACAACGTTTGGGAAAGTAACAAAAAATTCTTCTTCGATTAAAGTAGTGA
727503963	176929	NM_000191.2(HMGCL):c.698A>G (p.His233Arg)	HMGCL	Jan 23, 2014	MedGen:CN517202	not provided	germline	1	23808187	AGGAAGTGCCTCTGGCTGCCCTGGCTGTCCACTGCCATGACACCTATGGTCAAGCCCTGGC
74315411	28446	NM_000311.4(PRNP):c.547A>G (p.Thr183Ala)	PRNP	Dec 18, 2008	MedGen:C0162534,Orphanet:ORPHA56970;MedGen:C1847650,OMIM:606688	Genetic prion diseases;Spongiform encephalopathy with neuropsychiatric features	germline	20	4699767	AACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCA
144109267	177092	NM_207352.3(CYP4V2):c.1393A>G (p.Arg465Gly)	CYP4V2	Apr 11, 2014	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	germline	4	186209260	TATGCCTACGTGCCCTTCTCTGCTGGCCCCAGGAACTGTATAGGTTTGTATCCATCTGAAT
863225197	214298	NM_019892.5(INPP5E):c.1684A>G (p.Ser562Gly)	INPP5E	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	9	136430395	ATCTTCCCAAAGGACCGCGTCTTGTACAGAAGCCGCCACAAGGGTGACATCTGTCCTGTGA
797045022	205047	NM_001080508.2(TBX18):c.487A>G (p.Lys163Glu)	TBX18	Aug 06, 2015	Gene:7945,MedGen:C1840451,OMIM:143400	Multicystic renal dysplasia, bilateral	germline	6	84762554	CATGAGATAGGCACTGAGATGATCATCACCAAGGCCGGCAGGTAATGGGCAAGCTGGCGTG
34563000	432704	NM_000518.4(HBB):c.1A>G (p.Met1Val)	HBB	Jun 22, 2017	MedGen:CN517202	not provided	germline	11	5227021	TGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTG
397507442	46927	NM_002769.4(PRSS1):c.65A>G (p.Asp22Gly)	PRSS1	Mar 01, 2012	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Hereditary pancreatitis	not provided	7	142750579	CTCCAGTTGCTGCCCCCTTTGATGATGATGACAAGATCGTTGGGGGCTACAACTGTGAGGA
137852662	24163	NM_033163.3(FGF8):c.298A>G (p.Lys100Glu)	FGF8	Aug 01, 2008	MedGen:C2675188,OMIM:612702	Kallmann syndrome 6	germline	10	101774771	AGCGGGAAGCACGTGCAGGTCCTGGCCAACAAGCGCATCAACGCCATGGCAGAGGACGGCG
28933682	25333	NM_000132.3(F8):c.5822A>G (p.Asn1941Ser)	F8	Feb 09, 2017	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008;MedGen:CN169374	Hereditary factor VIII deficiency disease;not specified	germline	X	154904082	AGGCTTCTCTGTGTCCTTCTCCAGCAATCAATGGCTACATAATGGATACACTACCTGGCTT
137852454	25344	NM_000132.3(F8):c.6113A>G (p.Asn2038Ser)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154902053	GGATGAGCACACTTTTTCTGGTGTACAGCAATAGTGAGTAGCAATGTGGGCAGAGGTTCCC
587776519	15562	NM_001999.3(FBN2):c.3725-15A>G	FBN2	Apr 01, 1997	MedGen:C0220668,OMIM:121050,Orphanet:ORPHA115,SNOMED CT:205821003	Congenital contractural arachnodactyly	unknown	5	128335592	TAAGGAAGCAGACCTGACAATGTGGTTGCAATGCTGTTTTCACAGATATTGATGAATGTAT
62508578	98663	NM_000277.2(PAH):c.974A>G (p.Tyr325Cys)	PAH	Aug 14, 2012	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102844427	GCTCTCAGATTGACTTTCCATTCCAGATTTACTGGTTTACTGTGGAGTTTGGGCTCTGCAA
121909750	31077	NM_000407.4(GP1BB):c.338A>G (p.Tyr113Cys)	GP1BB	Apr 01, 1997	MedGen:CN071127	Macrothrombocytopenia, familial, Bernard-Soulier type	germline	22	19724181	GGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGC
796053272	201174	NM_006516.2(SLC2A1):c.19-2A>G	SLC2A1	Jan 31, 2012	MedGen:CN517202	not provided	germline	1	42943323	CGCCTATAACAGTGTGGTTTGTTTCTCCGCAGAAGCTGACGGGTCGCCTCATGCTGGCCGT
267607962	96163	NM_000251.2(MSH2):c.1511-2A>G	MSH2	Mar 17, 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	47466656	GAATACTTTTTCTTTTCTTCTTGATTATCAAGGCTTGGACCCTGGCAAACAGATTAAACTG
61755781	104556	NM_000322.4(PRPH2):c.422A>G (p.Tyr141Cys)	PRPH2	Dec 01, 2014	MedGen:C1842914,OMIM:608161,Orphanet:ORPHA99000;MedGen:C1868569,OMIM:169150,Orphanet:ORPHA63454;MedGen:CN517202	Macular dystrophy, vitelliform, adult-onset;Patterned dystrophy of retinal pigment epithelium;not provided	germline	6	42721913	GCCAAGGGCTCAAGAACGGCATGAAGTACTACCGGGACACAGACACCCCTGGCAGGTGTTT
-1	17601	NM_024079.4(ALG8):c.673+4A>G	ALG8	Jul 01, 2004	MedGen:C2931002,OMIM:608104,Orphanet:ORPHA79325	Congenital disorder of glycosylation type 1H	germline	11	78114262	CCTACTGTTTCACTGCAAATAAACCAGGCAAGTTTTGGTAATAATAGCAAAAACATTTTCG
1064797103	362594	NM_016023.3(OTUD6B):c.647A>G (p.Tyr216Cys)	OTUD6B	May 03, 2017	MedGen:CN235126;MedGen:CN243958,OMIM:617452;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C0014544,Orphanet:ORPHA166463	Dysmorphic features;Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies;Intellectual disability;Seizure Disorders	germline;inherited	8	91078597	TGGTTGCCTTGAGAAGTCAGACCGCTGAGTATATGCAAAGCCATGTGGAAGACTTTCTGCC
863224989	213888	NM_004006.2(DMD):c.265-2A>G	DMD	Aug 03, 2015	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32823389	ACCTTCAAATGTTTTACCCCTTTCTTTAACAGGTTGATTTAGTGAATATTGGAAGTACTGA
41362547	24652	m.10044A>G	MT-TG	May 09, 2003	Human Phenotype Ontology:HP:0001699,MedGen:C0011071	Sudden death	germline	MT	10044	GTTAACTTCCAATTAACTAGTTTTGACAACATTCAAAAAAGAGTAATAAACTTCGCCTTAA
111033314	52663	NM_000441.1(SLC26A4):c.1149+3A>G	SLC26A4	Nov 11, 2008	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	107689203	GTATGATTACACCATCGATGGGAACCAGGTATGGGTGCCCTTTTGCTGAACTGGTTTTATA
387907199	40569	NM_005006.6(NDUFS1):c.1783A>G (p.Thr595Ala)	NDUFS1	Jun 18, 2012	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	2	206127898	CCAGGAGCTGCTTACACAGAGAAGTCTGCTACATATGTCAACACTGAGGGTAGAGCTCAGC
121918543	20663	NM_001099274.1(TINF2):c.838A>G (p.Lys280Glu)	TINF2	May 10, 2012	MedGen:C1851970,OMIM:127550;MedGen:C3151445,OMIM:613990	Dyskeratosis congenita autosomal dominant;Dyskeratosis congenita, autosomal dominant, 3	germline	14	24240642	TCCCAATGGGCCTCCACTAGGGGAGGCCATAAGGAGCGCCCCACAGTCATGCTGTTTCCCT
72554344	103047	NM_000531.5(OTC):c.277A>G (p.Thr93Ala)	OTC	-	MedGen:CN517202	not provided	unknown	X	38369856	GGCATGATTTTTGAGAAAAGAAGTACTCGAACAAGATTGTCTACAGAAACAGGTAAGTCCA
137852631	24354	NM_000423.2(KRT2):c.556A>G (p.Asn186Asp)	KRT2	Jan 01, 2000	MedGen:C0432306,OMIM:146800,Orphanet:ORPHA455,SNOMED CT:254169002	Ichthyosis bullosa of Siemens	germline	12	52651587	GCCCAAGAGCGTGAGCAGATCAAAACTCTCAACAACAAATTTGCCTCCTTCATTGACAAGG
104894752	25882	NM_000054.4(AVPR2):c.839A>G (p.Tyr280Cys)	AVPR2	Aug 30, 1994	MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus, X-linked	germline	X	153906345	TGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGT
879253721	28338	NM_000141.4(FGFR2):c.1084+3A>G	FGFR2	Jul 15, 2016	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008;MedGen:C1863356,OMIM:101600	Crouzon syndrome;Pfeiffer syndrome	germline	10	121517316	CACTCTGCATGGTTGACAGTTCTGCCAGGTATATACTGTTCTTTCTCTCTGGGTTTTTTTC
193302855	34573	NM_032520.4(GNPTG):c.610-2A>G	GNPTG	Jul 05, 2012	MedGen:C1854896,OMIM:252605,Orphanet:ORPHA423470	Mucolipidosis III Gamma	not provided	16	1362609	CTGGGTGCTGCCCCTGCATCCTCCACCTTCAGGGCCATGAGAAGTTGCTGAGGACACTTTT
121912856	38590	NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg)	COL7A1	May 08, 2017	MedGen:C2673612;MedGen:CN517202	Epidermolysis bullosa dystrophica inversa, autosomal recessive;not provided	germline	3	48593538	TGCCCCAGCTGGCCCGACCTGGTGTCCCCAAGGTGATCCCTACCCCTACCATGCCTCCCAA
587777704	165689	NM_007315.3(STAT1):c.2018A>G (p.Lys673Arg)	STAT1	Sep 01, 2012	MedGen:C4013950,OMIM:614892,Orphanet:ORPHA319595	Immunodeficiency 31a	germline	2	190976881	CCCTGAAGTATCTGTATCCAAATATTGACAAAGACCATGCCTTTGGAAAGTATTACTCCAG
121917964	79412	NM_006920.4(SCN1A):c.251A>G (p.Tyr84Cys)	SCN1A	Jan 08, 2016	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	germline;unknown	2	166073371	CAGAGCCCCTGGAGGACCTGGACCCCTACTATATCAATAAGAAAGTGAGTGTTTTTTATCA
796052891	202950	NM_002693.2(POLG):c.2840A>G (p.Lys947Arg)	POLG	Oct 05, 2016	MedGen:CN517202	not provided	germline	15	89320907	CTACTGTGGGCATCAGCCGTGAGCATGCCAAAATCTTCAACTACGGCCGCATCTATGGTGC
1064793923	408696	NM_014191.3(SCN8A):c.718A>G (p.Ile240Val)	SCN8A	Jul 20, 2015	MedGen:CN517202	not provided	germline	12	51699581	GGGGATTCTGTCTCCTCAGGCCTGAAGACAATTGTGGGTGCCCTGATTCAGTCTGTGAAGA
61752435	98776	NM_000350.2(ABCA4):c.4540-2A>G	ABCA4	Nov 20, 2013	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94025050	AGGTAATTAACGTGGGTGTCTCATTGCCTCAGAGAACACAGCGCAGCACGGAAATTCTACA
397514587	48374	NM_001099922.2(ALG13):c.339A>G (p.Ala113=)	ALG13	Nov 08, 2012	MedGen:C3550904,OMIM:300884,Orphanet:ORPHA324422	Epileptic encephalopathy, early infantile, 36	germline	X	111685059	GTTGATGAACAATCATCAGCTGGAACTGGCAAAGCAGCTACACAAAGAGGGTCATCTCTTC
764211125	359071	NM_004199.2(P4HA2):c.419A>G (p.Gln140Arg)	P4HA2	Dec 05, 2016	MedGen:C4310655,OMIM:617238	Myopia 25, autosomal dominant	germline	5	132213966	TAGGAGCTGCCAAAGCCCTGATGAGACTTCAGGACACATACAGGCTGGACCCAGGCACAAT
863224194	211329	NM_015713.4(RRM2B):c.205-2A>G	RRM2B	Jun 14, 2012	MedGen:CN517202	not provided	germline	8	102226036	AATTAAAATTTTTGAAAATCTTTTTATTCCAGGTCGACTTATCAAAGGATCTCCCTCACTG
587777231	125809	NM_001955.4(EDN1):c.271A>G (p.Lys91Glu)	EDN1	Dec 05, 2013	MedGen:C3810332,OMIM:615706	Auriculocondylar syndrome 3	germline	6	12293978	GTTCCGTATGGACTTGGAAGCCCTAGGTCCAAGAGAGCCTTGGAGAATTTACTTCCCACAA
397514729	75244	NM_000388.3(CASR):c.85A>G (p.Lys29Glu)	CASR	Jul 01, 2006	MedGen:CN178679	Hypocalcemia, autosomal dominant 1, with bartter syndrome	germline	3	122254274	GCCTACGGGCCAGACCAGCGAGCCCAAAAGAAGGGGGACATTATCCTTGGGGGGCTCTTTC
121908166	19682	NM_006492.2(ALX3):c.608A>G (p.Asn203Ser)	ALX3	May 01, 2009	MedGen:C1876203,OMIM:136760	Frontonasal dysplasia 1	germline	1	110061550	CCACAACCTGCCCCCAGGTCTGGTTCCAGAACCGCAGAGCCAAGTGGCGGAAGCGCGAGCG
80358083	69134	NM_007294.3(BRCA1):c.212+3A>G	BRCA1	Jul 21, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN169374	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	germline	17	43106453	CTTTATGTAAGAATGATATAACCAAAAGGTATATAATTTGGTAATGATGCTAGGTTGGAAG
267606602	15391	NM_000267.3(NF1):c.1642-8A>G	NF1	Jul 01, 1998	Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1	germline	17	31221842	AGTCTTCTCTTTGTCTTTCTCTTTTTTAAAAAATTCAGGCTCTGCTGGTTCTTCATCAGTT
886037686	248859	NM_177438.2(DICER1):c.2236A>G (p.Arg746Gly)	DICER1	Nov 10, 2014	MedGen:CN072455,OMIM:601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	somatic	14	95111337	GTTCCAGGAAGACCAGGTTCCACGAAACGAAGGCAGTGCTACCCAAAAGCAGTTAGTATTG
796052615	203802	NM_172107.3(KCNQ2):c.297-2A>G	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200;MedGen:CN517202	Benign familial neonatal seizures 1;not provided	germline	20	63446839	CCTGTCTGAGAGCGCGCGTTCCCTGCCCCCAGGTTCCTCCTGGTTTTCTCCTGCCTCGTGC
886041001	262701	NM_006494.3(ERF):c.266A>G (p.Tyr89Cys)	ERF	Feb 21, 2017	MedGen:C4310679,OMIM:617180;MedGen:CN517202	Chitayat syndrome;not provided	germline	19	42249934	AATGGCATTTCTGTACCCACAGCTATTACTATAACAAGCGCATTCTGCACAAGACCAAGGG
137852697	23940	NM_000310.3(PPT1):c.236A>G (p.Asp79Gly)	PPT1	Feb 01, 1998	MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329	Ceroid lipofuscinosis neuronal 1	germline	1	40092171	CTCTCACTTCTCTCTGGCTTCTTTTTTAGGACGTGGAGAACAGCTTCTTCTTGAATGTCAA
864321620	217212	NM_173630.3(RTTN):c.2885+8A>G	RTTN	Dec 03, 2015	Human Phenotype Ontology:HP:0011451,MedGen:C4020749;MedGen:C3553831,OMIM:614833,Orphanet:ORPHA468631	Congenital microcephaly;Microcephaly, short stature, and polymicrogyria with or without seizures	germline	18	70135176	GAAGTATCGAGAATGGATATGTGGTGAGATATAAGAATTTATAAGTTTTTTACTCTTAACT
864309722	215785	NM_004991.3(MECOM):c.2830A>G (p.Thr944Ala)	MECOM	Dec 03, 2015	MedGen:C4225221,OMIM:616738	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	germline	3	169100904	GCAAACCTAACACGGCACTTGAGAACCCACACAGGAGAGCAGCCTTACAGGTCTGACAATG
137853863	34117	NM_001129765.1(NSDHL):c.1046A>G (p.Tyr349Cys)	NSDHL	Feb 01, 2011	MedGen:C0265267,OMIM:308050,Orphanet:ORPHA139,SNOMED CT:17608003	Child syndrome	not provided	X	152869040	GCTGCGAGAGAGCCAAAAAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGCTAT
119468008	18682	NM_020247.4(COQ8A):c.1541A>G (p.Tyr514Cys)	COQ8A	Jun 07, 2016	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485	Coenzyme Q10 deficiency, primary, 4	germline	1	226984910	CTCTTTTGGATTTTGGGGCAACGCGGGAATATGACAGATCCTTCACCGACCTCTACATTCA
1057524339	374099	NM_001170629.1(CHD8):c.2487-2A>G	CHD8	Jan 12, 2017	MedGen:CN517202	not provided	germline	14	21408557	AACATTTTTTTTTTCCCATGGTGAATCTGCAGGCAGAACTGCATCCTGGCTGATGAGATGG
121912518	29423	NM_000233.3(LHCGR):c.1733A>G (p.Asp578Gly)	LHCGR	May 10, 2017	MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED CT:237818003;Human Phenotype Ontology:HP:0008185,MedGen:C1859979;MedGen:CN517202	Gonadotropin-independent familial sexual precocity;Precocious puberty in males;not provided	germline	2	48688064	CTAAGAAAATGGCAATCCTCATCTTCACCGATTTCACCTGCATGGCACCTATCTCTTTTTT
397514341	36322	NM_000060.4(BTD):c.194A>G (p.His65Arg)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15635573	CTGAATATTATGTGGCTGCCGTGTATGAGCATCCATCCATCCTGAGTCTGAACCCTCTGGC
777153067	429811	NM_014321.3(ORC6):c.1A>G (p.Met1Val)	ORC6	May 24, 2017	MedGen:C3151113,OMIM:613803	Meier-Gorlin syndrome 3	germline	16	46689706	ACGGGAATTGTTCGCTTTAGTGCCGGCGCCATGGGGTCGGAGCTGATCGGGCGCCTAGCCC
121434255	18347	NM_000383.3(AIRE):c.247A>G (p.Lys83Glu)	AIRE	Dec 01, 1997	MedGen:C0085859,OMIM:240300,Orphanet:ORPHA3453,SNOMED CT:11244009	Polyglandular autoimmune syndrome, type 1	germline	21	44286671	GCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGC
199474743	79242	NM_001042492.2(NF1):c.4465A>G (p.Ser1489Gly)	NF1	Jun 30, 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	31260403	TTCCTTGATATAGCATCTGATTGTCCTACAAGTGATGCAGTAAATCATAGTCTTTCCTTCA
548521732	455412	NM_001369.2(DNAH5):c.5710-2A>G	DNAH5	Apr 11, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13839530	CAGAGCTCTAACATATACCTTTTGAATTTCAGTGTCATATGCATATCAAGAGTCCCATGGA
281874691	35855	NM_000495.4(COL4A5):c.2394A>G (p.Lys798=)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108606891	CACTGGCTTAGATGGGCTCCCTGGACCAAAAGGTATGGAGGCTGTCACTGCATCTCAACTT
121913115	31396	NM_001163213.1(FGFR3):c.833A>G (p.Tyr278Cys)	FGFR3	Jun 23, 2015	MedGen:C0410529,OMIM:146000,Orphanet:ORPHA429,SNOMED CT:205468002;Human Phenotype Ontology:HP:0004322,MedGen:C0349588	Hypochondroplasia;Short stature	germline;unknown	4	1801928	GCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATCCAGTGGCT
137852390	25212	NM_000132.3(F8):c.404A>G (p.Asp135Gly)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154993133	TTCTTCCTGCTATAGGAGCTGAATATGATGATCAGACCAGTCAAAGGGAGAAAGAAGATGA
183973249	15579	NM_017866.5(TMEM70):c.317-2A>G	TMEM70	Nov 16, 2017	MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194;MedGen:CN517202	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2;not provided	germline	8	73981153	GTATTGATCCTCTCTCTTTTTTTCCCATTTAGGTGTGAAATGTTTCTCTTATTCTACGAGT
61748478	15351	NM_000552.4(VWF):c.2384A>G (p.Tyr795Cys)	VWF	Oct 01, 2004	MedGen:CN517202;MedGen:C1282975,Orphanet:ORPHA166093,SNOMED CT:359732009	not provided;von Willebrand disease type 2N	germline	12	6044349	GGCTCGAGTGTACCAAAACGTGCCAGAACTATGACCTGGAGTGCATGAGCATGGGCTGTGT
387906986	39674	NM_024700.3(SNIP1):c.1097A>G (p.Glu366Gly)	SNIP1	Jan 01, 2012	MedGen:C3281055,OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	germline	1	37537842	ATGTACTCAAATTTGGATTCAGTAGCAGAGAATACGTCTTGCTCCATGAGTCGTCGGACAC
397515420	48360	NM_172107.3(KCNQ2):c.1636A>G (p.Met546Val)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63413577	TCACAGCCCCACCCACCCCCCTGCAGTGTCATGCGGTTCCTGGTGTCCAAGCGGAAGTTCA
72656355	32309	NM_000089.3(COL1A2):c.226-2A>G	COL1A2	Dec 21, 2017	MedGen:CN706304,OMIM:617821;MedGen:CN517202	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2;not provided	germline	7	94401565	ATATATATAATTTTTTTTTTTTACTTCTCTAGAACTTTGCTGCTCAGTATGATGGAAAAGG
267606977	21893	NM_016203.3(PRKAG2):c.1589A>G (p.His530Arg)	PRKAG2	Mar 08, 2012	MedGen:C1833236,OMIM:600858;MedGen:CN517202	Familial hypertrophic cardiomyopathy 6;not provided	germline	7	151560613	CACGTGTCCTGCTTTTCTCTTTGCAGGTCCATCGGCTGGTGGTGGTAAATGAAGCAGATAG
387906813	39171	NM_005257.5(GATA6):c.1396A>G (p.Asn466Asp)	GATA6	Dec 11, 2011	MedGen:C1838780,OMIM:600001	Pancreatic agenesis and congenital heart disease	germline	18	22181546	CGCAGAAACGCCGAGGGTGAACCCGTGTGCAATGCTTGTGGACTCTACATGAAACTCCATG
-1	433562	NM_000138.4(FBN1):c.1532A>G (p.Tyr511Cys)	FBN1	Apr 14, 2017	MedGen:CN169374	not specified	germline	15	48513605	GTGGTGAGTGTATTAACAACCAGGGTTCGTACACCTGTCAGTGCCGAGCTGGATATCAGAG
121434414	21682	NM_001084.4(PLOD3):c.668A>G (p.Asn223Ser)	PLOD3	Oct 01, 2008	MedGen:C2676285,OMIM:612394,Orphanet:ORPHA300284	Bone fragility with contractures, arterial rupture, and deafness	germline	7	101215100	ATCATAAGTCTCGGATCTTTCAGAACCTCAACGGGGCTTTAGGTGAGGAGGAAGACAGCCG
104894322	20165	NM_020661.3(AICDA):c.415A>G (p.Met139Val)	AICDA	Sep 01, 2000	MedGen:C1720956,OMIM:605258,Orphanet:ORPHA101089	Immunodeficiency with hyper IgM type 2	germline	12	8605227	CTGCACCGCGCCGGGGTGCAAATAGCCATCATGACCTTCAAAGGTGCGAAAGGGCCTTCCG
137852745	23840	NM_001204.6(BMPR2):c.1454A>G (p.Asp485Gly)	BMPR2	Sep 01, 2000	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202552756	CACTCAAGGAGACAATCGAAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTTACTGCACA
121909520	33319	NM_001100.3(ACTA1):c.350A>G (p.Asn117Ser)	ACTA1	Jun 01, 2001	MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904	Nemaline myopathy 3	germline	1	229432660	TCACCGAGGCCCCCCTCAATCCCAAGGCCAACCGCGAGAAGATGACCCAGATCATGTTTGA
115047866	482317	NM_015971.3(MRPS7):c.550A>G (p.Met184Val)	MRPS7	Feb 12, 2018	MedGen:CN807947,OMIM:617872	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	germline	17	75265744	CTACCCGACCGGCGTCGCCGCTTCCTAGCCATGAAGTGGATGATCACTGAGTGCCGGGATA
80356791	24105	NM_001876.3(CPT1A):c.1493A>G (p.Tyr498Cys)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	germline	11	68775398	TCATGTCCATTGACAGCCTCCAGCTGGGCTATGCGGAGGATGGGCACTGCAAAGGCGACAT
33931746	30510	NM_000518.4(HBB):c.-78A>G	HBB	Jun 16, 2017	MedGen:C3841475;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202	Beta-plus-thalassemia;beta Thalassemia;not provided	germline;unknown	11	5227099	CAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACA
386834116	71336	NM_017890.4(VPS13B):c.8697-9A>G	VPS13B	Nov 21, 2016	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline	8	99819403	ATCTGATAATTATTCTTGGTTTTTATTTCAATTTCCTAGAGAAGAATATGATCCTTCAGAT
387906925	39493	NM_019109.4(ALG1):c.1129A>G (p.Met377Val)	ALG1	Nov 01, 2010	MedGen:C2931005,OMIM:608540,Orphanet:ORPHA79327	Congenital disorder of glycosylation type 1K	germline	16	5082615	CACACGTCCTCCAGTGGCCTGGACCTGCCCATGAAGGTGGTGGACATGTTCGGGTGCTGTT
1064796927	411274	NM_000444.5(PHEX):c.1174-2A>G	PHEX	Mar 09, 2017	MedGen:CN517202	not provided	germline	X	22114456	GAAGTTTAATCTGGATCAATTATCTCCCACAGGTAATCCAGGGGACCACAACTTTGCTGCC
387907576	71503	NM_001287.5(CLCN7):c.296A>G (p.Tyr99Cys)	CLCN7	Mar 01, 2017	MedGen:C1833700,OMIM:166600;MedGen:C1969106,OMIM:611490;MedGen:CN517202	Osteopetrosis autosomal dominant type 2;Osteopetrosis autosomal recessive 4;not provided	germline;inherited	16	1461460	CTTGCTGTCCCGGCCTGCAGAGCTTGGACTATGACAACAGTGAGAACCAGCTGTTCCTGGA
786205133	166020	NM_183353.2(RLIM):c.1067A>G (p.Tyr356Cys)	RLIM	Mar 04, 2015	MedGen:C4283894,OMIM:300978;MedGen:C3501611,Orphanet:ORPHA777	Mental retardation, X-linked 61;Non-syndromic X-linked intellectual disability	germline	X	74592248	GGTCTCAGACACCAAACAACACTGTCACCTATGAAAGTGAACGAGGAGGTTTTAGGCGTAC
199469661	106403	NM_003590.4(CUL3):c.1377+3A>G	CUL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	2	224503649	TGAAAAAAACATGATATCTAAGTTAAAGGTAAGGTGTGTTTTAGATGAAATAGAGTGCACC
63751037	33167	NM_000021.3(PSEN1):c.415A>G (p.Met139Val)	PSEN1	Dec 23, 2010	MedGen:C1843013,OMIM:607822;MedGen:CN517202	Alzheimer disease, type 3;not provided	germline	14	73173642	GCCCTGCACTCAATTCTGAATGCTGCCATCATGATCAGTGTCATTGTTGTCATGACTATCC
1057518753	359180	NM_032171.2(CEP78):c.1629-2A>G	CEP78	May 18, 2017	MedGen:C4310657,OMIM:617236	Cone-rod dystrophy and hearing loss	germline	9	78265370	TTGCCTTTTCCTCCTTTTCTTCTCTCGACCAGGCTTGGGCAGCTTGCCACAATGGCTGGGA
199474666	24637	m.3274A>G	MT-TL1	Nov 27, 2001	MedGen:C4016618	Neuropsychiatric disorder and early-onset cataract	germline	MT	3274	GCCCGGTAATCGCATAAAACTTAAAACTTTACAGTCAGAGGTTCAATTCCTCTTCTTAACA
796052013	200389	NM_000531.5(OTC):c.919A>G (p.Lys307Glu)	OTC	Jul 06, 2015	MedGen:CN517202	not provided	germline	X	38411913	GACTGGACATTTTTACACTGCTTGCCCAGAAAGCCAGAAGAAGTGGATGATGAAGTCTTTT
121912439	29800	NM_000454.4(SOD1):c.302A>G (p.Glu101Gly)	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	31667320	ACAAAGATGGTGTGGCCGATGTGTCTATTGAAGATTCTGTGATCTCACTCTCAGGAGACCA
879254396	245358	NM_000527.4(LDLR):c.68-2A>G	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100221	GAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTC
387906742	38988	NM_001376.4(DYNC1H1):c.2011A>G (p.Lys671Glu)	DYNC1H1	May 29, 2012	MedGen:C1834690,OMIM:158600,Orphanet:ORPHA209341	Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant	germline	14	101986236	TACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGA
1057520528	375786	NM_144997.5(FLCN):c.1177-2A>G	FLCN	Dec 28, 2016	MedGen:CN517202	not provided	germline	17	17216505	GTCCTTGGTCTGAGTCCTGCTGTCCTCCTCAGACCATGCTTCCCGTGGGCTGCGTCCGCAT
370231886	414703	NM_021830.4(TWNK):c.1052A>G (p.Asn351Ser)	TWNK	Apr 07, 2017	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	10	100989262	GTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCC
886041691	264434	NM_020822.2(KCNT1):c.1546A>G (p.Met516Val)	KCNT1	Nov 16, 2016	MedGen:CN240507;MedGen:CN517202	Malignant migrating partial seizures of infancy;not provided	germline;unknown	9	135769982	GTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGA
80338920	17519	NM_024577.3(SH3TC2):c.530-2A>G	SH3TC2	Mar 31, 2008	MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949	Charcot-Marie-Tooth disease, type 4C	germline	5	149041619	TAGAAAGCCATTGCTTTTCTCATTATCCACAGGCCACTTCTTCTGCAGAGCCCTGTGCTCC
104894307	21950	NM_003002.3(SDHD):c.1A>G (p.Met1Val)	SDHD	May 20, 2016	Human Phenotype Ontology:HP:0030074,MedGen:C0007279;MedGen:C1868633,OMIM:168000;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Carotid body paraganglioma;Paragangliomas 1;Pheochromocytoma	germline;somatic	11	112086908	GGTGGATGACCTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTT
786205083	21719	NM_003494.3(DYSF):c.3443-33A>G	DYSF	Apr 11, 2006	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71590178	AGCCCCAGCTCTTAACCACTCCAGCCACTCACTCTGGCACCTCTGTTTTTTCCCTTGGTGA
80358293	20526	NM_012193.3(FZD4):c.1024A>G (p.Met342Val)	FZD4	Oct 01, 2004	MedGen:C1851402,OMIM:133780	Exudative vitreoretinopathy 1	germline	11	86951732	GGACTCAAATGGGGTCATGAAGCCATTGAAATGCACAGCTCTTATTTCCACATTGCAGCCT
121908604	21170	NM_012082.3(ZFPM2):c.2527A>G (p.Thr843Ala)	ZFPM2	Sep 01, 2007	MedGen:C1857781,OMIM:610187	Diaphragmatic hernia 3	germline	8	105802609	AGCAAAAAGTGTTTATCTCAGTCTGAGCGGACGACCACGTCTCCCAAAAGGCTGCTGGACT
121918709	27608	NM_001128177.1(THRB):c.1009A>G (p.Thr337Ala)	THRB	Feb 01, 1999	MedGen:C1840364,OMIM:145650,Orphanet:ORPHA165994	Thyroid hormone resistance, selective pituitary	germline	3	24127634	ACTTTAACCTTGAATGGGGAAATGGCAGTGACACGGGGCCAGCTGAAAAATGGGGGTCTTG
386134137	51296	NM_000096.3(CP):c.1209-2A>G	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149202243	CCCCAGCATTAAACACTTTTTTCCCCCTGCAGTGACTCAGCGGTGTTTTTTGAACAAGGTA
121907965	18953	NM_000520.5(HEXA):c.1A>G (p.Met1Val)	HEXA	Apr 01, 1992	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72375972	GCCCCCTCCGAGAGGGGAGACCAGCGGGCCATGACAAGCTCCAGGCTTTGGTTTTCGCTGC
112321280	15988	NM_203447.3(DOCK8):c.1418A>G (p.Lys473Arg)	DOCK8	Nov 19, 2009	MedGen:C1968689,OMIM:243700,Orphanet:ORPHA217390	Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive	germline	9	336714	CCTCCACTCTGAGCGTTAGCAGCTTTTTCAAGCAGGTATCTCTTCACATTACAGTGTGTCT
121434415	21644	NM_006702.4(PNPLA6):c.3034A>G (p.Met1012Val)	PNPLA6	Mar 01, 2008	MedGen:C2677586,OMIM:612020,Orphanet:ORPHA139480	Spastic paraplegia 39	germline	19	7556507	GTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCA
199472961	78219	NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser)	KCNH2	May 16, 2016	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150951495	CCAGTGTGGGCTTCGGCAACGTCTCTCCCAACACCAACTCAGAGAAGATCTTCTCCATCTG
397515473	76959	NM_002336.2(LRP6):c.1298A>G (p.Asn433Ser)	LRP6	Sep 01, 2013	MedGen:C1970440,OMIM:610947	Coronary artery disease, autosomal dominant 2	germline	12	12181118	GCACTGATCGAATAGAAGTGACAAGGCTCAATGGGACCATGAGGAAGATCTTGATTTCAGA
886037936	248785	NM_004434.2(EML1):c.727A>G (p.Thr243Ala)	EML1	Sep 19, 2016	MedGen:C1838239,OMIM:600348	Band heterotopia	germline	14	99897194	GACTGCCGTAACAACCTGTACTTGCTTCCGACGGGAGAGACCGTCTACTTCATCGCATCCG
781222705	23770	NM_000182.4(HADHA):c.180+3A>G	HADHA	Jul 01, 2016	MedGen:CN074230,OMIM:609016;MedGen:C0342786,OMIM:609015,SNOMED CT:237999008;MedGen:CN517202	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency;not provided	germline	2	26238931	TGTTCGAATTAACTCTCCCAATTCAAAGGTATCTCATTTAATTTGCAGTTTTTTTCTGCTA
121918546	20091	NM_015071.5(ARHGAP26):c.1250A>G (p.Asn417Ser)	ARHGAP26	Aug 01, 2000	Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834	Juvenile myelomonocytic leukemia	somatic	5	143041855	AGCAAGGGCTGTATCGAATTGTGGGTGTCAACTCCAGAGTGCAGAAGTTGCTGAGTGTCCT
587778998	95590	NM_000249.3(MLH1):c.244A>G (p.Thr82Ala)	MLH1	Jul 10, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;not specified	germline	3	37000991	GATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTCCTTTGAGGATTTAG
121908389	20297	NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly)	CYLD	Oct 01, 2003	MedGen:C1275122,OMIM:601606,Orphanet:ORPHA867,SNOMED CT:403825008;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493	Familial multiple trichoepitheliomata;Spiegler-Brooke syndrome	germline	16	50791689	CTTTTATCAACAGTAACCTGAAATTTGCAGAGGTTAGTGATACTCACCTGTGGTATTTTAT
397514451	24477	NM_000023.3(SGCA):c.410A>G (p.Glu137Gly)	SGCA	Sep 01, 1995	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle muscular dystrophy, type 2D	germline	17	50168398	TCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGA
199473419	78259	NM_000238.3(KCNH2):c.209A>G (p.His70Arg)	KCNH2	Jun 30, 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	150974809	TGCAGCGACCCTGCACCTGCGACTTCCTGCACGGGCCGCGCACGCAGCGCCGCGCTGCCGC
121918098	28502	NM_000371.3(TTR):c.113A>G (p.Asp38Gly)	TTR	Mar 01, 2012	MedGen:C3151470;MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED;Amyloidogenic transthyretin amyloidosis	germline	18	31592939	CCAAGTGTCCTCTGATGGTCAAAGTTCTAGATGCTGTCCGAGGCAGTCCTGCCATCAATGT
-1	446803	NM_000390.3(CHM):c.820-2A>G	CHM	Jul 05, 2016	MedGen:CN517202	not provided	germline	X	85957977	GTTTCTTAACTTAAAATCATAATATTTTTCAGGTTCCGTGTTCCAGAGCAGATGTCTTTAA
1060500252	401594	NM_000267.3(NF1):c.1A>G (p.Met1Val)	NF1	Sep 27, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31095310	CCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCC
119470018	19199	NM_024996.5(GFM1):c.521A>G (p.Asn174Ser)	GFM1	Nov 11, 2004	MedGen:C1836797,OMIM:609060,Orphanet:ORPHA137681	Combined oxidative phosphorylation deficiency 1	germline	3	158646896	GCTACAACGTTCCGTTTCTAACTTTTATTAACAAATTGGACCGAATGGGCTCCAACCCAGC
1060503670	403906	NM_000268.3(NF2):c.517-2A>G	NF2	Jul 09, 2016	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29655592	TAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGA
201777056	45894	NM_005050.3(ABCD4):c.956A>G (p.Tyr319Cys)	ABCD4	Oct 12, 2012	MedGen:C3553915,OMIM:614857,Orphanet:ORPHA369955;MedGen:CN517202	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE;not provided	germline	14	74292623	ATCCTGTCCAGAATGCCTTTGTGTGCATCTACCTCATCAGCTGCTTCACCCAGCTCATCGA
-1	440161	NM_001080463.1(DYNC2H1):c.6634-2A>G	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	maternal	11	103186240	GTGAAAACTTATCACAATTTTTTCCTCTTAAGGTTTTTCATTGGGCACGAGAATCTCCTCC
786205233	188156	NM_014423.3(AFF4):c.760A>G (p.Thr254Ala)	AFF4	Apr 01, 2015	MedGen:C4085597,OMIM:616368,Orphanet:ORPHA444077	Chops syndrome	germline	5	132934305	TCAAAGTCCAATTCAATGTTACAGAAACCCACTGCCTATGTGCGGCCCATGGACGGACAGG
267607256	46914	NM_002437.4(MPV17):c.262A>G (p.Lys88Glu)	MPV17	May 17, 2012	MedGen:C1850406,OMIM:256810,Orphanet:ORPHA255229	Navajo neurohepatopathy	not provided	2	27312697	CCTGGCACCACCAAAGTGGATGCACTGAAGAAGATGTTGTTGGATCAGGTGAGCAGGAGAA
28936696	22896	NM_018488.3(TBX4):c.1592A>G (p.Gln531Arg)	TBX4	Jun 01, 2004	MedGen:C1840061,OMIM:147891,Orphanet:ORPHA1509	Ischiopatellar dysplasia	germline	17	61483470	CCTTCTCCTTGTCCCGAGAATCTTCCTTACAGTACCATTCAGGAATGGGGACTGTGGAGAA
764139009	389253	NM_002473.5(MYH9):c.5137A>G (p.Ser1713Gly)	MYH9	Jun 04, 2016	MedGen:CN206424,Orphanet:ORPHA90636	Autosomal recessive non-syndromic sensorineural deafness type DFNB	germline	22	36285878	CGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGGTGAGCTGAGTGAGGGG
879253839	224634	NM_000255.3(MUT):c.1084-2A>G	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49451716	TTTGAGTTTTTGTTTTTTATCAAATATTTTAGGATCCCTACAATAATATTGTCCGTACTGC
1085307330	414281	NM_001204.6(BMPR2):c.1276+4A>G	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532736	TTATGAGATGTACAGACCTCTTCCCAGGTAAAAACTACTGTCAAAAGTTGATATTTTTTGA
121918663	27771	NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys)	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	1272252	AGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGA
118203945	15895	NM_013319.2(UBIAD1):c.305A>G (p.Asn102Ser)	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	11273836	TGGCTGTGCACGGGGCCGGTAATTTGGTCAACACTTACTATGACTTTTCCAAGGGCATTGA
104893932	24217	NM_000344.3(SMN1):c.784A>G (p.Ser262Gly)	SMN1	Jan 01, 2005	MedGen:C0152109,OMIM:253400,Orphanet:ORPHA83419,SNOMED CT:54280009	Kugelberg-Welander disease	germline	5	70946126	GATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCT
397517201	54633	NM_006218.3(PIK3CA):c.1637A>G (p.Gln546Arg)	PIK3CA	May 31, 2016	MedGen:C0007112;MedGen:C0278701;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;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: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;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MeSH:D002583,MedGen:CN236667	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Colorectal Neoplasms;Glioblastoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Neoplasm of brain;Neoplasm of ovary;Neoplasm of the breast;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;Uterine cervical neoplasms	somatic	3	179218307	CACGAGATCCTCTCTCTGAAATCACTGAGCAGGAGAAAGATTTTCTATGGAGTCACAGGTA
863225311	214682	NM_000038.5(APC):c.1312+3A>G	APC	Aug 09, 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	112819347	CCAGGCATGGACCAGGACAAAAATCCAAGTATGTTCTCTATAGTGTACATCGTAGTGCATG
1131692206	424319	NM_000527.4(LDLR):c.1359-25A>G	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113510	CCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCA
113993976	38457	NM_002863.4(PYGL):c.1016A>G (p.Asn339Ser)	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	germline	14	50916718	CTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGA
72554626	31924	NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala)	CYP11B2	Jun 01, 2003	MedGen:C3463917,OMIM:610600	Corticosterone methyloxidase type 2 deficiency	germline	8	142912000	ATATTGAGGCCTGGCACGTCCCCCCTCCTCACTTTCAGAGCGATTAACTAGTCTTGCATCT
397509365	246278	NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116197	TCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGAC
199476113	24748	m.11084A>G	MT-ND4	Oct 01, 1993	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	germline	MT	11084	CTAATCTCCCTACAAATCTCCTTAATTATAACATTCACAGCCACAGAACTAATCATATTTT
28937317	24409	NM_000335.4(SCN5A):c.3971A>G (p.Asn1324Ser)	SCN5A	Mar 10, 1995	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C1859062,OMIM:603830	Congenital long QT syndrome;Long QT syndrome 3	germline	3	38560418	CACTTCTCTGTCCACTTGAGGTGGTGGTCAATGCCCTGGTGGGCGCCATCCCGTCCATCAT
137852865	16612	NM_001171993.1(HPD):c.362A>G (p.Tyr121Cys)	HPD	Jun 01, 2000	MedGen:C0268623,OMIM:276710,Orphanet:ORPHA69723,SNOMED CT:413356003	4-Hydroxyphenylpyruvate dioxygenase deficiency	germline	12	121849726	TGAACTACATCGGCCAATTCTTGCCTGGATATGAGGCCCCAGCGTTCATGGACCCCCTACT
796052651	203727	NM_172107.3(KCNQ2):c.1666A>G (p.Lys556Glu)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63413547	ATGCGGTTCCTGGTGTCCAAGCGGAAGTTCAAGGAGAGCCTGCGGCCCTACGACGTGATGG
80338759	26560	NM_005120.2(MED12):c.3020A>G (p.Asn1007Ser)	MED12	Aug 08, 2008	MedGen:C0796022,OMIM:309520,SNOMED CT:422437002	X-linked mental retardation with marfanoid habitus syndrome	germline	X	71127931	GCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTG
587777271	131973	NM_000097.5(CPOX):c.980A>G (p.His327Arg)	CPOX	Feb 01, 2011	MedGen:C0342859	Harderoporphyria	germline	3	98585633	CCAGGTGTGATGATTACTTCTTTATAGCCCATCGTGGAGAACGGCGGGGCATTGGTGGTAT
200542114	439310	NM_025243.3(SLC19A3):c.980-14A>G	SLC19A3	Jun 01, 2017	MedGen:CN517202	not provided	germline	2	227696095	ATGCAAAGTCATTATGTTTGATTGCCTTCAATGTTTTTTTTCAGGGGCTGTGGCTGCCTTT
121918382	32942	NM_000040.2(APOC3):c.232A>G (p.Lys78Glu)	APOC3	May 01, 1991	MedGen:C3151467,OMIM:614028	Hyperalphalipoproteinemia 2	germline	11	116832816	AGTTCCCTGAAAGACTACTGGAGCACCGTTAAGGACAAGTTCTCTGAGTTCTGGGATTTGG
118203931	15953	NM_000067.2(CA2):c.52A>G (p.Lys18Glu)	CA2	Oct 01, 1982	na	CARBONIC ANHYDRASE II VARIANT	germline	8	85465289	TTCTTTCCCCCAGGACCTGAGCACTGGCATAAGGACTTCCCCATTGCCAAGGGAGAGCGCC
137852666	24152	NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg)	IGHMBP2	Sep 01, 2001	MedGen:C0043116,OMIM:253300,Orphanet:ORPHA83330,SNOMED CT:64383006	Werdnig-Hoffmann disease	germline	11	68911530	CGCTGTCTCAGAAAGAACTTGCCATCATCCATGGACCTCCTGGCACTGGGAAAACCACGAC
730880517	49239	NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu)	MAP2K2	Apr 02, 2013	MedGen:CN029449,OMIM:115150,SNOMED CT:403770008;MedGen:CN517202	Cardiofaciocutaneous syndrome 1;not provided	de novo;germline	19	4117541	AAGAAGCGGCTGGAAGCCTTTCTCACCCAGAAAGCCAAGGTCGGCGAACTCAAAGACGATG
281864779	27708	NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val)	PRKAR1A	Jul 14, 2017	MedGen:C2607929,OMIM:160980;MedGen:CN517202	Carney complex, type 1;not provided	germline	17	68515400	CATGTGTGTGTTTTTTTCTCGCAGAGAACCATGGAGTCTGGCAGTACCGCCGCCAGTGAGG
886042005	265141	NM_005629.3(SLC6A8):c.1255-2A>G	SLC6A8	Sep 29, 2016	MedGen:CN517202	not provided	germline	X	153694128	GCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGG
104894015	31183	NM_000162.3(GCK):c.641A>G (p.Tyr214Cys)	GCK	Aug 01, 2004	MedGen:C1865290,OMIM:602485,Orphanet:ORPHA79299	Hyperinsulinemic hypoglycemia familial 3	germline	7	44149798	ATGACACGGTGGCCACGATGATCTCCTGCTACTACGAAGACCATCAGTGCGAGGTCGGCAT
28938472	23570	NM_000178.3(GSS):c.656A>G (p.Asp219Gly)	GSS	Feb 01, 2001	MedGen:C1856399,OMIM:231900,Orphanet:ORPHA289849	Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to	germline	20	34936976	TTGCTCAAGAGAAGGAAAGAAACATATTTGACCAGCGTGCCATAGAGAATGAGCTACTGGC
368654019	440211	NM_001080463.1(DYNC2H1):c.12850A>G (p.Arg4284Gly)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:CN674505	Jeune thoracic dystrophy;Short-rib polydactyly syndrome type III	inherited;maternal;unknown	11	103479158	ATCTCTTTGCCTGTTTACACAAGTGCTGAAAGGGATCGTGTGGTTACCAATATTGATGTTC
886041167	264281	NM_017780.3(CHD7):c.3089A>G (p.Asn1030Ser)	CHD7	Feb 21, 2017	MedGen:CN517202	not provided	germline	8	60822634	TAGTAATTGCCCCATTGTCCACAATCCCCAACTGGGAAAGGGAATTCCGAACCTGGACAGA
786205101	32231	NM_000093.4(COL5A1):c.655-2A>G	COL5A1	Sep 01, 2002	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009	Ehlers-Danlos syndrome, classic type	germline	9	134727264	CTGCTTTTTCATGAGCGTCTCTTCTTTTCCAGGGTGACATCCAGCAGCTGCTCTTTGTCTC
786203997	185739	NM_001031.4(RPS28):c.1A>G (p.Met1Val)	RPS28	Mar 14, 2018	MedGen:C1853576,OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	germline	19	8321531	TCTCCGCCAGACCGCCGCCGCGCCGCCATCATGGACACCAGCCGTGTGCAGCCTATCAAGC
121908844	21580	NM_003722.4(TP63):c.1052A>G (p.Asp351Gly)	TP63	May 18, 2016	MedGen:C1858562,OMIM:604292;MedGen:CN517202	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;not provided	germline	3	189868639	AGGCCCGGATCTGTGCTTGCCCAGGAAGAGACAGGAAGGCGGATGAAGATAGCATCAGAAA
104894351	17657	NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)	HSPB8	Apr 30, 2015	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C1834692,OMIM:158590	Charcot-Marie-Tooth disease;Distal hereditary motor neuronopathy type 2A	germline	12	119187078	GAAGGTGGCATTGTTTCTAAGAACTTCACAAAGAAAATCCAGTAAGTAACCTGGAGTCATG
199472801	77943	NM_000218.2(KCNQ1):c.1669A>G (p.Lys557Glu)	KCNQ1	Apr 26, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;not provided	germline	11	2776038	CAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAA
-1	432485	NM_001278064.1(GRM1):c.2375A>G (p.Tyr792Cys)	GRM1	Sep 25, 2017	MedGen:CN492437,OMIM:617691	SPINOCEREBELLAR ATAXIA 44	germline	6	146399414	ACGAGGCCAAATATATCGCGTTCACCATGTACACCACCTGTATCATCTGGCTAGCTTTTGT
587783560	169885	NM_178151.2(DCX):c.538A>G (p.Lys180Glu)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401157	GCCAGGGAGAACAAGGACTTTGTGCGCCCCAAGCTGGTTACCATCATCCGCAGTGGGGTGA
67752076	103022	NM_000531.5(OTC):c.1A>G (p.Met1Val)	OTC	-	MedGen:CN517202	not provided	unknown	X	38352697	TAGAATCGTCCTTTACACAATTAAAAGAAGATGCTGTTTAATCTGAGGATCCTGTTAAACA
797045888	208794	NM_003560.3(PLA2G6):c.1349-2A>G	PLA2G6	Oct 02, 2014	MedGen:C1857747,OMIM:610217	Neurodegeneration with brain iron accumulation 2b	germline	22	38126451	GACCACAGCATGCCCTGCTCTGTGCCTCACAGAACTACAGGATCTCATGCACATCTCACGG
121917859	23911	NM_002181.3(IHH):c.284A>G (p.Glu95Gly)	IHH	Jan 01, 2003	Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388	Type A1 brachydactyly	germline	2	219060184	ACAATCCAGACATCATCTTCAAGGACGAGGAGAACACAGGCGCCGACCGCCTCATGACCCA
1131691728	421217	NM_001100.3(ACTA1):c.217A>G (p.Ile73Val)	ACTA1	Sep 24, 2015	MedGen:CN517202	not provided	germline	1	229432793	AAGAGAGGTATCCTGACCCTGAAGTACCCTATCGAGCACGGCATCATCACCAACTGGGATG
63750231	33171	NM_000021.3(PSEN1):c.839A>G (p.Glu280Gly)	PSEN1	Oct 14, 2003	MedGen:C4015780;MedGen:C1843013,OMIM:607822;MedGen:CN517202	Alzheimer disease, familial, with spastic paraparesis and unusual plaques;Alzheimer disease, type 3;not provided	germline	14	73198100	TGCTGGTTGAAACAGCTCAGGAGAGAAATGAAACGCTTTTTCCAGCTCTCATTTACTCCTG
-1	481437	NM_000284.3(PDHA1):c.491A>G (p.Asn164Ser)	PDHA1	Dec 09, 2017	MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243	Pyruvate dehydrogenase E1-alpha deficiency	germline	X	19353154	ACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTAGTCAAGGA
398123316	187337	NM_000314.6(PTEN):c.182A>G (p.His61Arg)	PTEN	Mar 01, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	germline;paternal	10	87925530	GTTTTGTTTTAAGGTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCTGTA
121913011	31854	NM_001943.4(DSG2):c.797A>G (p.Asn266Ser)	DSG2	Mar 07, 2006	MedGen:C1857777,OMIM:610193	Arrhythmogenic right ventricular cardiomyopathy, type 10	germline	18	31524554	CTCAAGTTCAGATTCGTATTTTGGATGTCAATGACAATATACCTGTAGTAGAAAATAAAGT
797044543	178874	NC_012920.1:m.4279A>G	MT-TI	Jan 29, 2015	MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551	Myoclonus with epilepsy with ragged red fibers	germline	MT	4279	CCCCCTCAAACCTAAGAAATATGTCTGATAAAAGAGTTACTTTGATAGAGTAAATAATAGG
796052004	200108	NM_000255.3(MUT):c.1885A>G (p.Arg629Gly)	MUT	Mar 12, 2014	MedGen:CN517202	not provided	germline	6	49440277	GTAGCAAAAATGGGACAAGATGGCCATGACAGAGGAGCAAAAGTTATTGCTACAGGATTTG
1064793978	407786	NM_000264.4(PTCH1):c.1348-2A>G	PTCH1	Aug 05, 2015	MedGen:CN517202	not provided	germline	9	95477704	TTTGTTCTGTGCCCCCATTGTTCTGCTTGCAGCTCGCCTATGCCTGTCTAACCATGCTGCG
121913338	29011	NM_004333.4(BRAF):c.1781A>G (p.Asp594Gly)	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: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: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 lymphoma, non-Hodgkin;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	140753354	TTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTACAGTGAAATCTCGATG
386134184	19455	NM_020919.3(ALS2):c.2980-2A>G	ALS2	Feb 10, 2011	MedGen:C1853396,OMIM:606353,Orphanet:ORPHA247604	Juvenile primary lateral sclerosis	germline	2	201726868	TTAAACTTATTGACGTTACTTTTTGCTCCTAGACAAAGTGGCTACGAGCTATAAGCCAAGC
370481987	434165	NM_000384.2(APOB):c.10808A>G (p.His3603Arg)	APOB	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21006060	CATGGCAAATGTCAGCTCTTGTTCAGGTCCATGCAAGTCAGCCCAGTTCCTTCCATGATTT
121913074	31574	NM_000129.3(F13A1):c.851A>G (p.Tyr284Cys)	F13A1	Jun 01, 2001	Human Phenotype Ontology:HP:0040233,MedGen:C2750514,OMIM:613225	Factor xiii, a subunit, deficiency of	germline	6	6224808	GTGTCCTCGTTGGATCCTGGGACAATATCTATGCCTATGGCGTCCCCCCATCGGCCTGGAC
267607482	77285	NM_001927.3(DES):c.1024A>G (p.Asn342Asp)	DES	Dec 27, 2016	MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909;MedGen:CN517202	Myofibrillar myopathy 1;not provided	germline	2	219421340	TCCTTGACCTGGGTTCCCCCTCTCCTGCAGAACGATTCCCTGATGAGGCAGATGCGGGAAT
34805604	16978	NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val)	LRRK2	Sep 13, 2012	MedGen:C1846862,OMIM:607060	Parkinson disease 8, autosomal dominant	germline	12	40299125	TCTCTTGTGACTAGAAATAAAATATCAGGGATATGCTCCCCCTTGAGACTGAAGGAACTGA
587783831	169991	NM_000252.2(MTM1):c.529-2A>G	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641267	ATACTGACTTGAATTTCTTTTTTTCCTCACAGGGCTTGCCCAATCACCATTGGAGAATAAC
267607760	95734	NM_000249.3(MLH1):c.545+3A>G	MLH1	Nov 10, 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	37008908	ATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAG
397515416	48310	NM_018486.2(HDAC8):c.539A>G (p.His180Arg)	HDAC8	Sep 13, 2012	MedGen:C3550903,OMIM:300882	Cornelia de Lange syndrome 5	germline	X	72495167	AGCGTATTCTCTACGTGGATTTGGATCTGCACCATGGAGATGGTAAGCCCTTTGGTTTTAA
121908423	20385	NM_004795.3(KL):c.578A>G (p.His193Arg)	KL	Sep 01, 2007	MedGen:C4016904	Tumoral calcinosis, hyperphosphatemic	germline	13	33017018	TGGGCGTGCAGCCCGTGGTCACCCTGTACCACTGGGACCTGCCCCAGCGCCTGCAGGACGC
118192193	34638	NM_172107.3(KCNQ2):c.356A>G (p.Glu119Gly)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63446778	TGTCTGTGTTTTCCACCATCAAGGAGTATGAGAAGAGCTCGGAGGGGGCCCTCTACATCCT
786203989	185715	NM_016069.10(PAM16):c.226A>G (p.Asn76Asp)	PAM16	May 01, 2014	MedGen:C2750075,OMIM:613320,Orphanet:ORPHA401979	Spondylometaphyseal dysplasia, megarbane-dagher-melki type	germline	16	4340985	GCCCTCTCACCCGTCCCCTCTCCTCTGCAGAACTATGAACACTTATTTAAGGTGAATGATA
267607170	17277	NM_000551.3(VHL):c.491A>G (p.Gln164Arg)	VHL	Feb 04, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10149814	CAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAA
864309737	216046	NM_000255.3(MUT):c.1097A>G (p.Asn366Ser)	MUT	Jan 07, 2016	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49451701	TTTATCAAATATTTTAGGATCCCTACAATAATATTGTCCGTACTGCAATAGAAGCAATGGC
876661038	232141	NM_000116.4(TAZ):c.461-2A>G	TAZ	May 07, 2015	MedGen:CN517202	not provided	germline	X	154419541	GTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGAC
119491109	20657	NM_012434.4(SLC17A5):c.548A>G (p.His183Arg)	SLC17A5	Dec 01, 1999	MedGen:C1096902,OMIM:269920,Orphanet:ORPHA309324,SNOMED CT:34566007	Sialic acid storage disease, severe infantile type	germline	6	73638477	TCTCTCAGGGTGTTACATTTCCAGCCATGCATGCCATGTGGTCTTCTTGGGCTCCCCCTCT
143246552	190166	NM_001003811.1(TEX11):c.511A>G (p.Met171Val)	TEX11	May 28, 2015	Gene:100820759,MedGen:C1839841,OMIM:309120	Spermatogenic failure, X-linked, 2	germline	X	70853093	CAAAGGAGCTCCCCTGAGGCTGACTTGACCATGGAGAAGATTACTGTTGAGAGTGACCACT
137853272	25843	NM_153252.4(BRWD3):c.4786A>G (p.Lys1596Glu)	BRWD3	Aug 01, 2007	MedGen:C1970841,OMIM:300659	Mental retardation, X-linked 93	germline	X	80677232	GGAGGAGAAGATAAAGAGAAAAAAGAAACAAAAGAGAAATCTCATTTATCCACCTCAGAGA
397509253	262927	NM_007294.3(BRCA1):c.5278-2A>G	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	43051119	CCCTGTCCCTCTCTCTTCCTCTCTTCTTCCAGATCTTCAGGGGGCTAGAAATCTGTTGCTA
118192167	28018	NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys)	RYR1	May 11, 2010	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	38580004	GCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAA
587779898	132984	NM_000136.2(FANCC):c.-78-2A>G	FANCC	Jan 31, 2014	MedGen:CN517202	not provided	germline	9	95249371	AGAAATGCTTCTATTTGTTCCCTTTCTTACAGATTTAATGTGTGCCGACCATTTCCTTCAG
267608429	153504	NM_003159.2(CDKL5):c.125A>G (p.Lys42Arg)	CDKL5	Feb 08, 2013	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	germline;unknown	X	18564502	TGCAGGAAACACATGAAATTGTGGCGATCAAGAAATTCAAGGACAGTGAAGGTAGATATAT
886044256	274002	NM_013382.5(POMT2):c.924-2A>G	POMT2	Aug 03, 2016	MedGen:CN517202	not provided	germline	14	77298773	TTGACTCTCTTCTGCTCTTCCTCTCCCCACAGTGGCCCTGGTGACGGTTTCTTCAGTTCTG
797045037	205780	NM_004380.2(CREBBP):c.5614A>G (p.Met1872Val)	CREBBP	Sep 13, 2017	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004;MedGen:CN517202	Rubinstein-Taybi syndrome;not provided	de novo;germline	16	3729433	GCCCAGCTCATGCGCCGGCGGATGGCCACCATGAACACCCGCAACGTGCCTCAGCAGAGTC
869312663	225807	NM_001040142.1(SCN2A):c.4468A>G (p.Met1490Val)	SCN2A	Apr 10, 2004	MedGen:C3150987,OMIM:613721	Early infantile epileptic encephalopathy 11	de novo	2	165381114	TTTCTTTACTTTGGAGGTCAAGACATTTTTATGACAGAAGAACAGAAGAAATACTACAATG
121918724	27530	NM_000359.2(TGM1):c.1469A>G (p.Asp490Gly)	TGM1	Feb 01, 2003	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24256011	TCAAGAATGGCCTGGTCTACATGAAGTACGACACGCCTTTCATTTTTGCTGAGGTGAGGGC
370874727	193855	NM_003494.3(DYSF):c.3349-2A>G	DYSF	Jul 14, 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	71589591	AGAATCTGCCATAACCAGCTTCGTGTCTCCAGGGCGGCGTGATGGATGACAAGAGTGAAGA
863224079	211905	NM_175614.4(NDUFA11):c.314-2A>G	NDUFA11	Oct 07, 2014	MedGen:CN517202	not provided	germline	19	5894856	CCGGGCCTGACATCACCTCCCCACTCCCACAGCGCACAACTACGGGATTGGCGCCGCCGCC
387907107	40055	NM_052873.2(IFT43):c.1A>G (p.Met1Val)	IFT43	Sep 12, 2013	MedGen:C3279807,OMIM:614099	Cranioectodermal dysplasia 3	germline	14	75985787	TCCAGGAAGTGACGTCAGGCGGCCGCGGAGATGGAGGATTTGCTCGACTTGGACGAGGAGC
387906687	38844	NM_001040142.1(SCN2A):c.754A>G (p.Met252Val)	SCN2A	May 01, 2010	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927	Benign familial neonatal-infantile seizures	germline	2	165310379	ATCCAGTCAGTGAAGAAGCTTTCTGATGTCATGATCTTGACTGTGTTCTGTCTAAGCGTGT
869025637	224926	NM_000551.3(VHL):c.341-2A>G	VHL	Mar 08, 2017	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10146512	GGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGG
267607206	16651	NM_024884.2(L2HGDH):c.293A>G (p.His98Arg)	L2HGDH	Oct 05, 2017	Human Phenotype Ontology:HP:0040144,MedGen:C1855995,OMIM:236792,Orphanet:ORPHA79314;MedGen:CN517202	L-2-hydroxyglutaric aciduria;not provided	germline	14	50302132	ACCAGACTGGACATAACAGTGGTGTCATACATAGTGGAATTTATTATAAACCTGAGTCTCT
-1	432042	NM_003000.2(SDHB):c.73-9A>G	SDHB	-	MedGen:C1708353,Orphanet:ORPHA29072	Hereditary Paraganglioma-Pheochromocytoma Syndromes	germline	1	17044897	AATTTTTTTTTCCTTTTTGTGAACTTTAAAAAATTTCAGGCCTCCCGAGGAGCCCAGACAG
1085307416	414395	NM_000020.2(ACVRL1):c.1124A>G (p.Tyr375Cys)	ACVRL1	-	MedGen:C1832529	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	12	51916111	GCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGAT
1057518643	262524	NM_001733.4(C1R):c.869A>G (p.Asp290Gly)	C1R	Oct 31, 2016	Gene:791254,MedGen:C0268347,OMIM:130080,Orphanet:ORPHA75392,SNOMED CT:50869007	Ehlers-Danlos syndrome, type 8	germline	12	7088886	GCAATGCTGTGGATCTGCTGTTCTTCACAGATGAGTCGGGGGACAGCCGGGGCTGGAAGCT
121913677	28929	NM_001127500.2(MET):c.3785A>G (p.Lys1262Arg)	MET	Oct 07, 2013	MedGen:C0279606	Childhood hepatocellular carcinoma	somatic	7	116783402	ACTATAGTGTACACAACAAAACAGGTGCAAAGCTGCCAGTGAAGTGGATGGCTTTGGAAAG
281865130	49448	NM_000530.7(MPZ):c.347A>G (p.Asn116Ser)	MPZ	Mar 26, 2015	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161306809	GCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCAC
28934589	27177	NM_000387.5(SLC25A20):c.713A>G (p.Gln238Arg)	SLC25A20	Dec 17, 2013	MedGen:C0342791,OMIM:212138,Orphanet:ORPHA159,SNOMED CT:238003000;MedGen:CN517202	Carnitine acylcarnitine translocase deficiency;not provided	germline	3	48859097	TCCCCCCAGATGTGCTCAAGTCTCGATTCCAGACTGGTGAGTGGAAGGTAGTGGGGTGGAC
794728523	197467	NM_000218.2(KCNQ1):c.1033-2A>G	KCNQ1	Nov 25, 2015	MedGen:CN517202	not provided	germline	11	2585210	TGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAA
587776954	51108	NM_138425.3(C12orf57):c.1A>G (p.Met1Val)	C12orf57	Oct 06, 2017	MedGen:C2931500;MedGen:C2750932;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;MedGen:C1857512,OMIM:218340,Orphanet:ORPHA1777;MedGen:CN517202	Colobomatous microphthalmia;Corpus callosum abnormalities;Global developmental delay;Seizures;Temtamy syndrome;not provided	germline	12	6944122	CTCCGCTGAACCTAGAGCTTCAGACGCCCTATGGCGTCCGCCTCGACCCAACCGGCGGCCT
180177039	29017	NM_004333.4(BRAF):c.1502A>G (p.Glu501Gly)	BRAF	Feb 16, 2017	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MedGen:CN029449,OMIM:115150,SNOMED CT:403770008;Human Phenotype Ontology:HP:0000494,MedGen:C0423110;Human Phenotype Ontology:HP:0000348,MedGen:C0239676;Human Phenotype Ontology:HP:0000368,MedGen:C1857486;Human Phenotype Ontology:HP:0002643,MedGen:C0852283;Human Phenotype Ontology:HP:0001622,MedGen:C0233315;Human Phenotype Ontology:HP:0001642,MedGen:C1956257,OMIM:265500;Human Phenotype Ontology:HP:0001714,MedGen:C0340279;Human Phenotype Ontology:HP:0001629,MedGen:C1859213;Human Phenotype Ontology:HP:0000465,MedGen:C0221217;Human Phenotype Ontology:HP:0006610,MedGen:C1827524;MedGen:CN517202	Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 1;Downslanted palpebral fissures;High forehead;Low-set, posteriorly rotated ears;Neonatal respiratory distress;Premature birth;Pulmonic stenosis;Ventricular hypertrophy;Ventricular septal defect;Webbed neck;Wide intermamillary distance;not provided	de novo;germline;unknown	7	140778006	CACCTCAGCAGTTACAAGCCTTCAAAAATGAAGTAGGAGTACTCAGGTGAGCTTGTGTGAA
267606778	31689	NM_207034.2(EDN3):c.335A>G (p.His112Arg)	EDN3	Oct 01, 2009	MedGen:C2750457,OMIM:613265	Waardenburg syndrome type 4B	germline	20	59301692	ACAAGGACAAGGAGTGTGTCTACTATTGCCACCTGGACATCATTTGGATCAACACTCCCGA
869320688	206679	NM_003998.3(NFKB1):c.730+4A>G	NFKB1	Sep 03, 2015	MedGen:C4225277,OMIM:616576	Immunodeficiency, common variable, 12	germline	4	102579043	TGGTATCAGACGCCATCTATGACAGTAGTGAGTACTTCACTTCCAACAGGGGGCACACCAA
863225224	214285	NM_153704.5(TMEM67):c.1674+3A>G	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93793299	CATTGGGAGTCCCATGATTGATTTACAGGTATAATCTCAGGAGTTTTTTAAGAATATTTTT
267607505	77401	NM_002055.4(GFAP):c.770A>G (p.Tyr257Cys)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44913279	CCAGCAACATGCATGAAGCCGAAGAGTGGTACCGCTCCAAGGTAGCCCTGCCTGTGGGCCA
587777355	132673	NM_178014.3(TUBB):c.895A>G (p.Met299Val)	TUBB	Dec 27, 2012	MedGen:C4014283,OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	germline	6	30723957	CTCACCCAGCAGGTCTTCGATGCCAAGAACATGATGGCTGCCTGTGACCCCCGCCACGGCC
367543252	36486	NM_000155.3(GALT):c.308A>G (p.Gln103Arg)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647547	TCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGC
104894028	19525	NM_001002010.2(NT5C3A):c.686A>G (p.Asn229Ser)	NT5C3A	Sep 01, 2003	MedGen:C1849507,OMIM:266120,Orphanet:ORPHA35120	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to	germline	7	33017461	TTTATCATCCCAATGTCAAAGTTGTGTCCAATTTTATGGATTTTGATGAAACTGTAAGAAT
200379491	465015	NM_000070.2(CAPN3):c.2120A>G (p.Asp707Gly)	CAPN3	Aug 31, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42410432	GTGTAGCCCTGACCTCCCTCCTCCAGACAGATGGCTCTGGAAAGCTCAACCTGCAGGAGTT
121912305	26631	NM_001363.4(DKC1):c.361A>G (p.Ser121Gly)	DKC1	Nov 19, 2016	MedGen:C1148551,OMIM:305000;MedGen:C1846142,Orphanet:ORPHA3322;MedGen:CN517202	Dyskeratosis congenita X-linked;Hoyeraal Hreidarsson syndrome;not provided	germline	X	154766313	CGGATACTTCGGGTGGAGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTT
1057519313	361894	NM_001024845.2(SLC6A9):c.1000A>G (p.Ser334Gly)	SLC6A9	Jan 19, 2017	MedGen:C4310943,OMIM:617301,Orphanet:ORPHA289863	Glycine encephalopathy with normal serum glycine	germline	1	44001590	GTCATCATCAGCATCACCAACTGTGCCACCAGCGTCTATGCTGGCTTCGTCATCTTCTCCA
796053169	201279	NM_021007.2(SCN2A):c.387-2A>G	SCN2A	Mar 24, 2017	MedGen:CN517202	not provided	germline	2	165307846	ATTGAACTTTGTCTTCCTTGACGATATTCTACTTTATTCAATATGCTCATTATGTGCACGA
121918329	16184	NM_014362.3(HIBCH):c.365A>G (p.Tyr122Cys)	HIBCH	Nov 09, 2016	MedGen:C0342738,OMIM:250620,Orphanet:ORPHA88639,SNOMED CT:237958002;MedGen:CN517202	Beta-hydroxyisobutyryl-CoA deacylase deficiency;not provided	germline	2	190290425	AGATAGCTCCAGTTTTCTTCAGAGAAGAATATATGCTGAATAATGCTGTTGGTATGTGTAT
81002862	67427	NM_000059.3(BRCA2):c.9118-2A>G	BRCA2	Dec 13, 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	32380005	CATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTATTTCAGATTTA
587776846	32092	NM_001735.2(C5):c.1115A>G (p.Lys372Arg)	C5	Apr 01, 2005	MedGen:C0343047,OMIM:609536	Leiner disease	germline	9	121023405	TCCTGAAGCCTGGGATTCCATATCCCATCAAGGTAGATTGGGTGAGGGGGTAGACGTTGCT
387906929	39508	NM_006886.3(ATP5F1E):c.35A>G (p.Tyr12Cys)	ATP5F1E	Sep 01, 2010	MedGen:C3279708,OMIM:614053	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3	germline	20	59030427	CCATATACCTTCTCTCATTTTCTCCCAGCTACATCCGATACTCCCAGATCTGTGCAAAAGC
886041239	264423	NM_005445.3(SMC3):c.1942A>G (p.Met648Val)	SMC3	Aug 04, 2016	MedGen:CN517202	not provided	germline	10	110593202	GTTTCAACCCAGCTGGCCCGTGCTTTCACTATGGACTGTATTACTTTGGAAGGTTTGTAAT
58608173	77505	NM_005557.3(KRT16):c.373A>G (p.Asn125Asp)	KRT16	Jan 04, 2016	MedGen:C1706595,OMIM:167200;MedGen:CN517202	Pachyonychia congenita 1;not provided	germline	17	41612316	GGCAGTGAGAAGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGG
199474818	24602	m.7445A>G	MT-TS1	Jul 03, 2014	MedGen:C3151897,OMIM:500008;MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202	Deafness, nonsyndromic sensorineural, mitochondrial;Keratoderma palmoplantar deafness	germline	MT	7445	ATTCGAAGAACCCGTATACATAAAATCTAGACAAAAAAGGAAGGAATCGAACCCCCCAAAG
121918528	24007	NM_000098.2(CPT2):c.359A>G (p.Tyr120Cys)	CPT2	Jul 07, 2016	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005;MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305;MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308;MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302	Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, lethal neonatal;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	germline;unknown	1	53210033	TTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAA
527236213	153639	NM_032018.6(SPRTN):c.350A>G (p.Tyr117Cys)	SPRTN	Nov 01, 2014	MedGen:C4015461,OMIM:616200,Orphanet:ORPHA435953	Ruijs-Aalfs syndrome	germline	1	231347825	AGACCCTCCTGCATGAAATGATACATGCCTATTTATTTGTCACTAATAACGACAAAGACCG
387906762	39042	NM_007315.3(STAT1):c.604A>G (p.Met202Val)	STAT1	Aug 01, 2011	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	germline	2	190998246	CAGAAACAAGAACAGCTGTTACTCAAGAAGATGTATTTAATGCTTGACAATAAGAGAAAGG
-1	485702	NM_000348.3(SRD5A2):c.282-2A>G	SRD5A2	Jul 27, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31533768	GAATCCTAACCTTTCCTCCCTGTGTGTCCCAGGACATTTGTGTACTCACTGCTCAATCGAG
113994149	17164	NM_025265.3(TSEN2):c.926A>G (p.Tyr309Cys)	TSEN2	Jan 01, 2011	MedGen:C2676466,OMIM:612389	Pontocerebellar hypoplasia type 2B	germline	3	12516627	TGCTGTATTTTCAGGCCTTTTTCTTGGTCTATGCTCTGGGATGTTTAAGTATTTACTATGA
1061517	239796	NM_004168.3(SDHA):c.1A>G (p.Met1Val)	SDHA	Aug 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C3279992,OMIM:614165;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Paragangliomas 5;not provided	germline	5	218356	TGGCGGGACTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCCTGTCGCGGCTGC
587776879	39257	NM_004656.3(BAP1):c.438-2A>G	BAP1	Aug 28, 2011	MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539	Tumor susceptibility linked to germline BAP1 mutations	unknown	3	52407318	ATTTTTTGGGCCCTGACTCTGTTTTTCCCCAGGCCCGAGCCACGCCACCTCCCTGAGAAGC
730882221	181433	NM_001082538.2(TCTN1):c.342-2A>G	TCTN1	Feb 23, 2015	Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:C3280031,OMIM:614173;MedGen:CN228298	Global developmental delay;Joubert syndrome 13;Typical Joubert syndrome MRI findings	germline;unknown	12	110626360	TAACTTTGTATTATTATTTTTTTAATTTTCAGGGGCGACAGCCAGTTTTGTAGTCAAAAAG
80338904	17401	NM_206933.2(USH2A):c.14020A>G (p.Arg4674Gly)	USH2A	Dec 23, 2010	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151138,OMIM:613809	Retinitis pigmentosa;Retinitis pigmentosa 39	germline	1	215671085	AATGGAAAAGTTTTGTATTACGAATTATACAGAAGACAAATAGCAACTCAGCCTAGAAAAT
753085250	214254	NM_001134831.1(AHI1):c.1152-2A>G	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135455928	TTGTGTTAATGGAAGTATCTTTTTTTGTACAGTGGACGGCCTGTTTCATCTTACTATGAAA
121912540	29451	NM_000233.3(LHCGR):c.1691A>G (p.Asp564Gly)	LHCGR	Jun 01, 2001	MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED CT:237818003	Gonadotropin-independent familial sexual precocity	germline	2	48688106	GAAACCCAGAATTAATGGCTACCAATAAAGATACAAAGATTGCTAAGAAAATGGCAATCCT
118192201	34645	NM_172107.3(KCNQ2):c.622A>G (p.Met208Val)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63444727	CGGAGCCTGCGCTTCCTGCAGATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCACCT
281864799	27703	NM_212472.2(PRKAR1A):c.891+3A>G	PRKAR1A	Sep 20, 2012	MedGen:C2607929,OMIM:160980	Carney complex, type 1	germline	17	68528994	AGGGGATGAGTTCTTCATTATTTTAGAGGTAAAGAACTCAGAATTTAATACTTGAATTTTA
149277003	222542	NM_000135.2(FANCA):c.3349A>G (p.Arg1117Gly)	FANCA	Jul 17, 2017	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002;MedGen:CN517202	Fanconi anemia;not provided	germline	16	89746890	TTTTCTTACCTGCCTTGAACTCTTTTGCAGAGAAACTTCTGCTCCCACGGAGGTGCCCTGA
756235547	212296	NM_181426.1(CCDC39):c.610-2A>G	CCDC39	Apr 23, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	3	180659582	CACAGAAATGTTCTTTGCTCTCTGTTTGACAGTTAGAATTGGATAAAGCAGCACAAGATTT
1135401757	424607	NM_000487.5(ARSA):c.1274A>G (p.His425Arg)	ARSA	May 01, 2017	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	unknown	22	50625401	CCTGCCACGCCTCCAGCTCTCTGACTGCTCATGAGCCCCCGCTGCTCTATGACCTGTCCAA
72656340	413975	NM_000088.3(COL1A1):c.3790A>G (p.Met1264Val)	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	17	50186664	AACCCCGCCCGCACCTGCCGTGACCTCAAGATGTGCCACTCTGACTGGAAGAGTGGTGAGG
886039239	259310	NM_000833.4(GRIN2A):c.2927A>G (p.Asn976Ser)	GRIN2A	Mar 16, 2016	MedGen:C1832814,OMIM:245570	Epilepsy, focal, with speech disorder and with or without mental retardation	germline	16	9764617	TTGTGGCCAACCGGCAGAAGGATAACCTCAATAACTATGTATTCCAGGGACAACATCCTCT
121918613	27962	NM_000702.3(ATP1A2):c.1033A>G (p.Thr345Ala)	ATP1A2	Jan 13, 2012	MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine type 2	germline	1	160128667	CTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCC
886043149	269827	NM_001130987.1(DYSF):c.3757-2A>G	DYSF	Jan 21, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71600700	TGCTGATTCTTGTCTCTCTACGCTTGGTCTAGGGTGCAGACGAGTTTATGGGTCGCTGCAT
80357382	32732	NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly)	BRCA1	Jul 18, 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;MedGen:CN169374	Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	germline;somatic;unknown	17	43106457	TGTCCTTTATGTAAGAATGATATAACCAAAAGGTATATAATTTGGTAATGATGCTAGGTTG
760180709	443390	NM_020166.4(MCCC1):c.1682-3A>G	MCCC1	Jul 29, 2016	MedGen:CN517202	not provided	germline	3	183025807	ATTTTTCTTCATTTTTTCCCTTTTTCCATAAAGATGTAGCCATAGCTGTAACGTATAACCA
869312823	226499	NM_002074.4(GNB1):c.233A>G (p.Lys78Arg)	GNB1	Sep 29, 2017	Human Phenotype Ontology:HP:0011198,MedGen:C4023476;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001510,MedGen:C3552463;Human Phenotype Ontology:HP:0008947,MedGen:C1860834;MedGen:C4310774,OMIM:616973;Human Phenotype Ontology:HP:0001252,MedGen:C0026827;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;Human Phenotype Ontology:HP:0000486,MedGen:C0038379;MedGen:CN517202	EEG with generalized epileptiform discharges;Feeding difficulties;Global developmental delay;Growth delay;Infantile muscular hypotonia;Mental retardation, autosomal dominant 42;Muscular hypotonia;Seizures;Strabismus;not provided	de novo;germline	1	1806509	GGCTTCTCGTCAGTGCCTCGCAGGATGGTAAACTTATCATCTGGGACAGCTACACCACCAA
5030816	224950	NM_000551.3(VHL):c.464-2A>G	VHL	Aug 01, 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	10149785	TGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAG
776631281	440063	NM_001006657.1(WDR35):c.1433+3A>G	WDR35	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	2	19953831	CACGGTCTCGAAAAGAAGGGAGAGAAAGGTATATCTTTTGATACATACTTTTTAGTAGCTC
28941472	17438	NM_000048.3(ASL):c.857A>G (p.Gln286Arg)	ASL	Jan 12, 2017	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004;MedGen:CN517202	Argininosuccinate lyase deficiency;not provided	germline	7	66089114	TCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGAT
28942105	17998	NM_000271.4(NPC1):c.3467A>G (p.Asn1156Ser)	NPC1	Aug 01, 2016	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23535479	GCATCAGTCTGAACGCTGTATCCTTGGTCAACCTGGTGATGGTGAGTCCTCATACAGTCTC
137853134	20785	NM_005094.3(SLC27A4):c.899A>G (p.Gln300Arg)	SLC27A4	Aug 01, 2009	MedGen:C1837610,OMIM:608649,Orphanet:ORPHA88621	Ichthyosis prematurity syndrome	germline	9	128352659	TGCCTCCAGGAAACATCGTGGGAATCGGCCAGTGCCTGCTGCATGGCATGACGGTGGTGAT
112366278	245887	NM_000527.4(LDLR):c.941-2A>G	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11110650	GTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGC
111033744	36565	NM_000155.3(GALT):c.626A>G (p.Tyr209Cys)	GALT	Sep 30, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN517202	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided	germline;unknown	9	34648395	CCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAAT
387907291	45796	NM_022787.3(NMNAT1):c.817A>G (p.Asn273Asp)	NMNAT1	Sep 01, 2012	MedGen:C1837873,OMIM:608553	Leber congenital amaurosis 9	germline	1	9982678	GCTGGGGTCATCCTGGCCCCTTTGCAGAGAAACACTGCAGAAGCTAAGACATAGGAATTCT
778899140	227467	NM_001130690.2(PDE10A):c.320A>G (p.Tyr107Cys)	PDE10A	Apr 29, 2016	MedGen:C4310792,OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset	germline	6	165450268	ACACAGGAGGAGACAACCAGCTACTCCTCTATGAACTGAGCAGCATCATTAAAATAGGTAA
28939079	20254	NM_018965.3(TREM2):c.401A>G (p.Asp134Gly)	TREM2	Sep 01, 2002	MedGen:C1857316,OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	germline	6	41159873	TCATGGCTCTGCCTCCCATAGACCCCCTGGATCACCGGGATGCTGGAGATCTCTGGTTCCC
121918493	28309	NM_000141.4(FGFR2):c.983A>G (p.Tyr328Cys)	FGFR2	Sep 17, 2016	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008	Crouzon syndrome	germline	10	121517420	ACACCACGGACAAAGAGATTGAGGTTCTCTATATTCGGAATGTAACTTTTGAGGACGCTGG
121918336	16737	NM_015040.3(PIKFYVE):c.3308A>G (p.Lys1103Arg)	PIKFYVE	Jul 01, 2008	MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED CT:417183007	Fleck corneal dystrophy	germline	2	208326119	AAGAATTCAAAGAAATGGAGAACAGGAGGAAGAAACAGCTGCTCAGGGATCTCTCTGGACT
1060501414	396844	NM_000118.3(ENG):c.524-2A>G	ENG	Dec 13, 2016	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004	Osler hemorrhagic telangiectasia syndrome	germline	9	127825862	GGGAAGGGACTGAGGTGCGCGTGTCTCTGCAGCCCAGGGGTCACTGTCCTTCTGCATGCTG
72551348	27309	NM_000463.2(UGT1A1):c.992A>G (p.Gln331Arg)	UGT1A1	Oct 01, 1993	MedGen:C2931132,OMIM:606785,Orphanet:ORPHA79235,SNOMED CT:68067009	Crigler-Najjar syndrome, type II	germline	2	233767161	CAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTC
879254518	245549	NM_000527.4(LDLR):c.416A>G (p.Asp139Gly)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105322	ACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGG
397514743	75286	NM_022114.3(PRDM16):c.2447A>G (p.Asn816Ser)	PRDM16	Jul 11, 2013	MedGen:C3809288,OMIM:615373	Left ventricular noncompaction 8	germline	1	3412644	GCATCGGCAGCCGGGCCCGTGCCAGCCAAAACGGCGGCGGGCGGGAGCCCCGCAAGAACCA
397507529	48995	NM_002834.4(PTPN11):c.844A>G (p.Ile282Val)	PTPN11	Dec 21, 2016	MedGen:C0041409,OMIM:163950;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome 1;Rasopathy;not provided	germline	12	112473031	GAAAACAAAAACAAAAATAGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGCTC
769448730	264185	NM_032682.5(FOXP1):c.1409A>G (p.Tyr470Cys)	FOXP1	Mar 28, 2016	MedGen:CN517202	not provided	germline	3	70977662	AGAACGCAGAAGTTAGACCACCATTTACATATGCATCTTTAATTAGGCAGGTAAGTAAATA
281865007	49680	NM_024312.4(GNPTAB):c.3053A>G (p.Asp1018Gly)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101761209	TGAATATATCTCAAGTCTTTGATGAAGTTGATACAGATCAATCTGGTGTCTTGTCTGACAG
886037618	24570	NM_194442.2(LBR):c.1484-9A>G	LBR	Nov 01, 2003	MedGen:C0030779,OMIM:169400,SNOMED CT:85559002	Pelger-Huët anomaly	germline	1	225404715	ACTAAGTTATTAACATAGGAAAATATTTTAAAATTGCAGTTTGTGGTTATGTAATCTTCCG
121909197	22975	NM_000503.5(EYA1):c.1639A>G (p.Arg547Gly)	EYA1	Feb 12, 2000	MedGen:C4016751	Anterior segment anomalies and cataract	germline	8	71211215	TGTTTTGAGAGAATAATTCAAAGGTTTGGAAGAAAAGTGGTGTATGTTGTTATAGGAGATG
879255599	227105	NM_001144967.2(NEDD4L):c.2036A>G (p.Tyr679Cys)	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	58366201	TCTTACTGTCCAAAGAGATGTTCAACCCCTACTACGGCCTCTTTGAGTACTCTGCCACGTA
794726865	190182	NM_000921.4(PDE3A):c.1333A>G (p.Thr445Ala)	PDE3A	Jun 01, 2015	Gene:8080,MedGen:C1862170,OMIM:112410,Orphanet:ORPHA1276	Brachydactyly with hypertension	germline	12	20616293	AGACGAGTTTCTTCCACTTGGACCACCACCACCTCGGCCACAGGTCTACCCACCTTGGAGC
1057519707	362801	NM_000222.2(KIT):c.1964A>G (p.Asn655Ser)	KIT	Oct 02, 2014	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Malignant melanoma	somatic	4	54728095	GTTACCTTGGTAATCACATGAATATTGTGAATCTACTTGGAGCCTGCACCATTGGAGGTAA
121918507	28334	NM_000141.4(FGFR2):c.1576A>G (p.Lys526Glu)	FGFR2	Aug 01, 2005	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008;MedGen:C1865070,OMIM:609579,Orphanet:ORPHA168624	Crouzon syndrome;Scaphocephaly, maxillary retrusion, and mental retardation	germline	10	121498591	TGCCTACTGTTCATAGATGATGCCACAGAGAAAGACCTTTCTGATCTGGTGTCAGAGATGG
104894304	21939	NM_003002.3(SDHD):c.341A>G (p.Tyr114Cys)	SDHD	Sep 28, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1868633,OMIM:168000	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 1	germline	11	112094831	TTAGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGC
387906626	38656	NM_000138.4(FBN1):c.5099A>G (p.Tyr1700Cys)	FBN1	Jan 04, 2018	MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED CT:254090007;MedGen:CN517202	Acromicric dysplasia;not provided	germline	15	48463207	TGAGAAGAAGTTTGTGCTACAGAAACTACTATGCTGACAACCAGACCTGTGATGGAGAATT
876658214	233046	NM_000038.5(APC):c.1959-2A>G	APC	Dec 29, 2014	MedGen:CN240755;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis;Hereditary cancer-predisposing syndrome	germline	5	112837551	CTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTAC
121908219	23538	NM_001127221.1(CACNA1A):c.4151A>G (p.Tyr1384Cys)	CACNA1A	Oct 10, 2000	MedGen:C1832894,OMIM:141500	Familial hemiplegic migraine type 1	germline	19	13261552	TTAAAAACGTCTTCAACATCCTCATCGTCTACATGCTATTCATGTTCATCTTCGCCGTGGT
104886050	35555	NM_000495.4(COL4A5):c.1A>G (p.Met1Val)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108440126	TGCTGAAGGAGCTGCGGGAGCCGGAGAAGAATGAAACTGCGTGGAGTCAGCCTGGCTGCCG
28357970	24769	m.3796A>G	MT-ND1	Aug 01, 2003	MedGen:C0752197	Dystonia, adult-onset	germline	MT	3796	TTACTAATAAGTGGCTCCTTTAACCTCTCCACCCTTATCACAACACAAGAACACCTCTGAT
-1	432498	NM_000016.5(ACADM):c.1055A>G (p.Tyr352Cys)	ACADM	Mar 28, 2017	MedGen:CN517202	not provided	germline	1	75761231	GGGAGGTTGATTCTGGTCGTCGAAATACCTATTATGCTTCTATTGCAAAGGCATTTGCTGG
-1	472083	NM_000033.3(ABCD1):c.521A>G (p.Tyr174Cys)	ABCD1	Apr 22, 2017	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153725787	GCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAG
764831063	481160	NM_024887.3(DHDDS):c.441-24A>G	DHDDS	Jan 24, 2018	na	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1bb (1 patient)	germline	1	26447535	CAATCATCAGTCCCTGTCCCCCTTTGGTAAATTATTCTCTTCTTCCCTCCTCAGGTGTTTC
281865192	16376	NM_025114.3(CEP290):c.2991+1655A>G	CEP290	Oct 13, 2017	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C1857780,OMIM:610188;MedGen:C1857821,OMIM:611755;MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005;MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008;MedGen:CN517202	Joubert syndrome;Joubert syndrome 5;Leber congenital amaurosis 10;Meckel-Gruber syndrome;Nephronophthisis;not provided	germline	12	88101183	CACCGCACCTGGCCCCAGTTGTAATTGTGAATATCTCATACCTATCCCTATTGGCAGTGTC
143781303	202868	NM_017882.2(CLN6):c.767A>G (p.Asp256Gly)	CLN6	Jun 27, 2013	MedGen:CN517202	not provided	germline	15	68208309	TGCACCAGAAGCGCAAGCGCCTCTTCCTGGACAGCAACGGCCTCTTCCTCTTCTCCTCCTT
104894227	27644	NM_005343.3(HRAS):c.350A>G (p.Lys117Arg)	HRAS	Apr 03, 2017	MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008;MedGen:CN517202	Costello syndrome;not provided	germline	11	533553	ATGACGTGCCCATGGTGCTGGTGGGGAACAAGTGTGACCTGGCTGCACGCACTGTGGAATC
1085307408	414387	NM_000020.2(ACVRL1):c.788A>G (p.Asp263Gly)	ACVRL1	-	MedGen:C1832529	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	12	51915240	CCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCT
397509415	70551	NM_004315.5(ASAH1):c.965+4A>G	ASAH1	Jul 01, 2013	MedGen:C0268255,OMIM:228000,SNOMED CT:79935000	Farber's lipogranulomatosis	germline	8	18059568	CAGAAAGGAATCATTGGATGTATATGAGTAAGTAGGTTTGTTAAAGCAAAAGAAGTAGAAA
397509386	59645	NM_032237.4(POMK):c.773A>G (p.Gln258Arg)	POMK	Apr 26, 2013	MedGen:C3808964,OMIM:615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	germline	8	43122597	AGCTGCATGGGGATTTCGTGGCTCCAGAGCAACTGTGGCCCTATGGAGAGGACGTGCCTTT
863224962	213833	NM_000070.2(CAPN3):c.2381-2A>G	CAPN3	May 28, 2015	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42411285	AACTGGCCTCTGGCCTGTGCATTCTTTCACAGGAGCTTTTCATGCATTTGACAAGGATGGA
797044573	188184	NM_002055.4(GFAP):c.256A>G (p.Lys86Glu)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44915231	CTCAATGACCGCTTTGCCAGCTACATCGAGAAGGTTCGCTTCCTGGAACAGCAAAACAAGG
398123130	98279	NM_000050.4(ASS1):c.496-2A>G	ASS1	Nov 01, 2012	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline	9	130470832	TTACCTCCACCTGTGCTGTCTCTTTCCTGCAGCAACACGGGATTCCCATCCCGGTCACTCC
281864974	47631	NM_024312.4(GNPTAB):c.1285-2A>G	GNPTAB	May 10, 2012	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	not provided	12	101768162	GTCATTTTATTTTCTCTTTGGTTTTATCGTAGGTTTATTTGACATGGCCTGTGCCAAACTG
267606869	22383	NM_005144.4(HR):c.-218A>G	HR	Feb 01, 2009	Gene:50823,MedGen:C2750815,OMIM:146550	Hypotrichosis 4	germline	8	22130605	CGGAGTCCGACCCCTCCAACCTGCGGCCCTAGAGCGCCCCCGCCGCCCCGGGGGAAGGAGA
76763715	19329	NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser)	GBA	Oct 31, 2017	MedGen:C0268250,OMIM:230900,Orphanet:ORPHA77260,SNOMED CT:12246008;Human Phenotype Ontology:HP:0002304,MedGen:C0085623;na;MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1856476,OMIM:231005,Orphanet:ORPHA2072;MedGen:C1842704,OMIM:608013,Orphanet:ORPHA85212;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009;MedGen:C0752347,OMIM:127750;MedGen:C3160718,OMIM:168600,SNOMED CT:49049000;MedGen:C3160718,OMIM:168600,SNOMED CT:49049000;Human Phenotype Ontology:HP:0002063,MedGen:C0026837;MedGen:C0268251,OMIM:231000,Orphanet:ORPHA77261,SNOMED CT:5963005;MedGen:CN239381;MedGen:CN517202	Acute neuronopathic Gaucher's disease;Akinesia;Dementia, Lewy body, susceptibility to;Gaucher disease;Gaucher disease type 3C;Gaucher disease, perinatal lethal;Gaucher's disease, type 1;Gaucher's disease, type 1;Lewy body dementia;Parkinson disease, late-onset;Parkinson disease, late-onset;Rigidity;Subacute neuronopathic Gaucher's disease;Susceptibility to Parkinson's Disease;not provided	germline;maternal;unknown	1	155235843	TTGTCTCTTTGCCTTTGTCCTTACCCTAGAACCTCCTGTACCATGTGGTCGGCTGGACCGA
33972047	30297	NM_000518.4(HBB):c.59A>G (p.Asn20Ser)	HBB	Jun 30, 2017	MedGen:C4017510;MedGen:C3841475;na;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202	Beta-malay-thalassemia;Beta-plus-thalassemia;HEMOGLOBIN MALAY;beta Thalassemia;not provided	germline	11	5226963	CTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGG
151344514	39380	NM_006796.2(AFG3L2):c.1996A>G (p.Met666Val)	AFG3L2	May 17, 2011	MedGen:C1853249,OMIM:610246,Orphanet:ORPHA101109	Spinocerebellar ataxia 28	germline	18	12337520	TTATGTATTTTTCAGATTGTTCAGTTTGGCATGAATGAAAAGGTTGGGCAAATCTCCTTTG
121908133	19468	NM_175073.2(APTX):c.602A>G (p.His201Arg)	APTX	Aug 27, 2002	MedGen:C1859598,OMIM:208920,Orphanet:ORPHA1168	Adult onset ataxia with oculomotor apraxia	germline	9	32984799	TAAAGGATAAATACCCAAAGGCCCGTTACCATTGGCTGGTCTTACCGTGGACCTCCATTTC
72468700	100360	NM_004006.2(DMD):c.1332-9A>G	DMD	Apr 20, 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	32614462	TTTCAAAGAGGTCATAATAGGCTTCTTTCAAATTTTCAGTTTACATAGAGTTTTAATGGAT
869025269	223649	NM_022369.3(STRA6):c.1313A>G (p.Gln438Arg)	STRA6	Jan 01, 2013	MedGen:CN235161	Anophthalmia - microphthalmia	inherited	15	74182448	CACTCCCGCCCCTGGCAGGGCTCCTGGTGCAGCAGATCATCTTCTTCCTGGGAACCACGGC
199422319	47530	NM_001099274.1(TINF2):c.871A>G (p.Arg291Gly)	TINF2	May 10, 2012	MedGen:C1851970,OMIM:127550	Dyskeratosis congenita autosomal dominant	not provided	14	24240609	GAGCGCCCCACAGTCATGCTGTTTCCCTTTAGGAATCTCGGCTCACCAACCCAGGTCATAT
104886298	36112	NM_000495.4(COL4A5):c.4790A>G (p.Tyr1597Cys)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108694908	CTCAGGGATGGGATTCTCTGTGGATTGGTTATTCCTTCATGATGGTATTTTACACTCTTCC
587777453	141336	NM_022068.3(PIEZO2):c.2134A>G (p.Met712Val)	PIEZO2	Jun 04, 2014	MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154	Oculomelic amyoplasia	de novo;germline	18	10789114	GGTAAAATCGTAATGTACAAAATCATCTACATGGTGCTGTTCCTGTTCTGTGTGGCCCTAT
886042757	268217	NM_000231.2(SGCG):c.386-2A>G	SGCG	Oct 13, 2015	MedGen:C0410173,OMIM:253700,Orphanet:ORPHA353,SNOMED CT:240056002	Severe autosomal recessive muscular dystrophy of childhood - North African type	germline	13	23279357	ACAGTTTATAATAAACTGTTTTAATTCTTCAGGTCCCAAAATGGTAGAAGTCCAGAATCAA
121908344	19757	NM_015166.3(MLC1):c.422A>G (p.Asn141Ser)	MLC1	Mar 01, 2002	MedGen:C1858854,OMIM:604004,Orphanet:ORPHA2478	Megalencephalic leukoencephalopathy with subcortical cysts 1	germline	22	50079919	GCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGC
121913561	29363	NM_005912.2(MC4R):c.821A>G (p.Asn274Ser)	MC4R	Jul 01, 2001	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline	18	60371529	ACTTAATATTCTACATCTCTTGTCCTCAGAATCCATATTGTGTGTGCTTCATGTCTCACTT
-1	439564	NM_001300953.1(ACER3):c.98A>G (p.Glu33Gly)	ACER3	Nov 10, 2017	MedGen:CN603947,OMIM:617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	germline	11	76861074	AGAACTACTCCGTGACCTGGTACATCGCCGAGTTCTGTGAGTGTGGCCTGAGGAGGGGAGT
587783818	169979	NM_000252.2(MTM1):c.301A>G (p.Ser101Gly)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150614658	TCGAGAATTGAAAAAATGGGAGGCGCGACAAGTAGAGGAGAAAATTCCTATGGTCTAGATA
121908549	20945	NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val)	SCN4A	May 10, 2017	MedGen:C4016869;MedGen:CN517202	Myotonia congenita, atypical, acetazolamide-responsive;not provided	germline	17	63945602	GTGAACGCCCTCCTAGGCGCCATCCCCTCCATCATGAATGTGCTGCTTGTCTGCCTCATCT
727503027	176781	NM_001278939.1(ELN):c.800-2A>G	ELN	Jul 27, 2017	Human Phenotype Ontology:HP:0004381,MedGen:C0003499,OMIM:185500,Orphanet:ORPHA3193,SNOMED CT:268185002	Supravalvar aortic stenosis	germline	7	74051748	GAAACTACATTGCACTGTCCCCATCTCAACAGGTGCTGGAGCAGCCGGAGTCCTCCCTGGT
146011150	46853	NM_000060.4(BTD):c.128A>G (p.His43Arg)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	germline	3	15635507	GCGGCTGTTACGTGGTTGCCCTGGGAGCCCACACCGGGGAGGAGAGCGTGGCTGACCATCA
-1	440571	NM_001267550.2(TTN):c.106375-2A>G	TTN	Oct 05, 2016	MedGen:CN517202	not provided	germline	2	178530118	TTTTTAAAACACAAATCATTTGCATTCTACAGGCCATTACACAAGGAGGTAAATATAAACT
755235380	390864	NM_003001.3(SDHC):c.1A>G (p.Met1Val)	SDHC	Sep 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1854336,OMIM:605373	Hereditary cancer-predisposing syndrome;Paragangliomas 3	germline	1	161314406	GCGTCACTTCCGTCCAGACCGGAACCCAAGATGGCTGCGCTGTTGCTGAGGTGACTTCAGT
786205050	187648	NM_021098.2(CACNA1H):c.4645A>G (p.Met1549Val)	CACNA1H	Mar 20, 2015	Human Phenotype Ontology:HP:0011736,MedGen:C1384514,Orphanet:ORPHA181415	Primary hyperaldosteronism	de novo;maternal;paternal;unknown	16	1212024	CTGCTCATCGTCAGCTTCTTCGTGCTCAACATGTTCGTGGGCGTCGTGGTCGAGAACTTCC
752232718	421011	NM_000143.3(FH):c.689A>G (p.Lys230Arg)	FH	May 08, 2017	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002;MedGen:C0027672,SNOMED CT:699346009	Fumarase deficiency;Hereditary cancer-predisposing syndrome	germline	1	241508652	CAAAATCCAAAGAGTTTGCACAGATCATCAAGATTGGACGTACTCATACTCAGGATGCTGT
1135402745	424983	NM_015295.2(SMCHD1):c.1571A>G (p.Asn524Ser)	SMCHD1	-	MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135	Arhinia choanal atresia microphthalmia	unknown	18	2700842	TCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAA
863225036	213797	NM_001165963.1(SCN1A):c.4477-2A>G	SCN1A	Mar 27, 2013	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	germline	2	165996119	GTTTTAACCAGTTTGATTTTTCTTTTCTATACTTTGGAGGTCAAGACATCTTTATGACAGA
370471013	165633	NC_012920.1:m.5559A>G	MT-TW	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	germline	MT	5559	ACAGACCAAGAGCCTTCAAAGCCCTCAGTAAGTTGCAATACTTAATTTCTGTAACAGCTAA
137852972	19582	NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser)	BSCL2	Jun 29, 2017	MedGen:CN043576;MedGen:C1833308,OMIM:600794,Orphanet:ORPHA139536;MedGen:C2931276,Orphanet:ORPHA100998;MedGen:CN517202;MedGen:CN169374	Charcot-Marie-Tooth disease, type 2;Distal hereditary motor neuronopathy type 5;Silver spastic paraplegia syndrome;not provided;not specified	germline	11	62702499	CCACCTCACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGTGATCG
63751269	362633	NM_000517.4(HBA2):c.*94A>G	HBA2	Dec 29, 2016	MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001;MedGen:CN169374	alpha Thalassemia;not specified	germline	16	173694	TTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCT
121918423	31093	NM_021957.3(GYS2):c.116A>G (p.Asn39Ser)	GYS2	Aug 01, 1998	MedGen:C1855861,OMIM:240600,Orphanet:ORPHA2089	Hypoglycemia with deficiency of glycogen synthetase in the liver	germline	12	21604477	TGCTCTTTGAAGTTGCTTGGGAAGTGACCAATAAAGGTTTGTACTGCTCCTGAAGGTGGAT
397514603	48408	NM_000390.3(CHM):c.1520A>G (p.His507Arg)	CHM	Dec 01, 2011	Human Phenotype Ontology:HP:0001139,MedGen:C0008525,OMIM:303100,Orphanet:ORPHA180,SNOMED CT:75241009	Choroideremia	germline	X	85879054	CAAATATTTTTTTTTTAACAGATTTGGTTCATTTGACTTGCACATCTTCTAAAACAGCAAG
121908859	21470	NM_000369.2(TSHR):c.1856A>G (p.Asp619Gly)	TSHR	Oct 14, 1993	MedGen:C1863960	Thyroid adenoma, hyperfunctioning	somatic	14	81143914	GAAATCCGCAGTACAACCCAGGGGACAAAGATACCAAAATTGCCAAGAGGATGGCTGTGTT
121908403	20244	NM_021102.3(SPINT2):c.488A>G (p.Tyr163Cys)	SPINT2	Mar 01, 2014	MedGen:C2678346	Diarrhea 3, secretory sodium, congenital, syndromic	germline	19	38290215	TGGAGAGGAACTCCTGCAATAACTTCATCTATGGAGGCTGCCGGGGCAATAAGAACAGCTA
74315417	18489	NM_144773.3(PROKR2):c.629A>G (p.Gln210Arg)	PROKR2	Jan 01, 2009	MedGen:C2930927,OMIM:244200	Kallmann syndrome 3	germline	20	5302566	TCAAGAGCCAGGAGAAGATCTTCTGTGGCCAGATCTGGCCTGTGGATCAGCAGCTCTACTA
-1	471386	NM_153638.3(PANK2):c.680A>G (p.Tyr227Cys)	PANK2	May 24, 2017	MedGen:C0018523,OMIM:234200,Orphanet:ORPHA157850,SNOMED CT:2992000	Pigmentary pallidal degeneration	germline	20	3907977	ATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGA
730880293	178823	NM_004793.3(LONP1):c.2353A>G (p.Arg785Gly)	LONP1	Jan 08, 2015	MedGen:C1838180,OMIM:600373,Orphanet:ORPHA1458	CODAS syndrome	germline	19	5693737	GGCTCCACGCTGTTTGTGGAGACATCCCTGAGACGGCCACAGGACAAGGATGCCAAGGGTG
121917770	27299	NM_003361.3(UMOD):c.383A>G (p.Asn128Ser)	UMOD	Mar 01, 2003	MedGen:C0268113,OMIM:162000,Orphanet:ORPHA209886,SNOMED CT:46785007	Familial juvenile gout	germline	16	20348918	GCCACTGCCACGCCCTGGCCACATGTGTCAATGTGGTGGGCAGCTACTTGTGCGTATGCCC
398123985	446634	NM_004006.2(DMD):c.531-2A>G	DMD	Jun 22, 2017	MedGen:CN517202	not provided	germline	X	32809613	TTTGTGTATGTGTGTATGTGTATGTGTTTTAGGCCAGACCTATTTGACTGGAATAGTGTGG
587777301	132072	NM_199189.2(MATR3):c.1864A>G (p.Thr622Ala)	MATR3	Mar 30, 2014	MedGen:C3807521,OMIM:606070	Amyotrophic lateral sclerosis 21	germline	5	139322683	ACTGATGGTTCCCAGAAGACTGAGAGTTCAACCGAAGGTAAAGAACAAGAAGAGAAGTCCG
121918644	27897	NM_003126.3(SPTA1):c.143A>G (p.Lys48Arg)	SPTA1	Jan 01, 1991	Human Phenotype Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED CT:9434008	Hereditary pyropoikilocytosis	germline	1	158685229	TCAAGGAGCGGGTCGCTGAGAGGGGTCAGAAGCTTGAGGATTCCTATCACTTACAAGTTTT
797045213	207857	NM_000352.4(ABCC8):c.563A>G (p.Asn188Ser)	ABCC8	Jun 16, 2017	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005;MedGen:CN517202	Persistent hyperinsulinemic hypoglycemia of infancy;not provided	germline;unknown	11	17463454	TCTATGGGATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGGTGAGGGTAAGCAGGCCACC
373822756	181233	NM_000527.4(LDLR):c.662A>G (p.Asp221Gly)	LDLR	Apr 03, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;inherited;not applicable	19	11105568	ACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTG
121908851	21531	NM_024009.2(GJB3):c.497A>G (p.Asn166Ser)	GJB3	Feb 01, 2009	MedGen:C2673761	Deafness, digenic, GJB2/GJB3	germline	1	34785259	TCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTG
121909251	23107	NM_198217.2(ING1):c.515A>G (p.Asn172Ser)	ING1	Jun 15, 2000	MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037	Squamous cell carcinoma of the head and neck	somatic	13	110719739	ACCCCAACGAACCCACGTACTGTCTGTGCAACCAGGTCTCCTATGGGGAGATGATCGGCTG
104893748	29100	NM_000258.2(MYL3):c.445A>G (p.Met149Val)	MYL3	Aug 31, 2017	MedGen:C1837471,OMIM:608751;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN517202	Familial hypertrophic cardiomyopathy 8;Hypertrophic cardiomyopathy;not provided	germline	3	46859511	GTCTTCGACAAGGAGGGCAATGGCACTGTCATGGGTGCTGAGCTTCGCCACGTGCTGGCCA
120074112	17618	NM_000483.4(APOC2):c.1A>G (p.Met1Val)	APOC2	Dec 15, 1989	na;MedGen:C1720779,OMIM:207750,Orphanet:ORPHA309020	APOLIPOPROTEIN C-II (PARIS);Apolipoprotein C2 deficiency	germline	19	44948479	CCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTC
-1	427318	NM_138694.3(PKHD1):c.5825A>G (p.Asp1942Gly)	PKHD1	May 26, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	51959953	ACAGCTGGTTTCCTGAAAGGCTGCCACAAGATGGCGACAACGTCACAGTGGAGAATGGCCA
113994156	47511	NM_001039958.1(MESP2):c.271A>G (p.Lys91Glu)	MESP2	Aug 25, 2009	MedGen:C1837549,OMIM:608681	Spondylocostal dysostosis 2	not provided	15	89776628	GGACAGCGGCAGAGCGCCAGCGAGCGGGAGAAACTGCGCATGCGCACGCTGGCCCGCGCCC
376517859	192996	NM_020366.3(RPGRIP1):c.3749-2A>G	RPGRIP1	Mar 02, 2015	MedGen:C2750720,OMIM:608194	Cone-rod dystrophy 13	germline	14	21351102	GAGTGATGCTGTTTTTTTCCCTTTCCCAACAGTTGTTAGCCCTGAAGATCTGGCTACCCCA
794728569	197437	NM_000218.2(KCNQ1):c.605A>G (p.Asp202Gly)	KCNQ1	Oct 25, 2011	MedGen:CN517202	not provided	germline	11	2571325	GAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGT
397515891	51681	NM_000256.3(MYBPC3):c.1224-2A>G	MYBPC3	Jul 13, 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	47343264	GGAACACTTCAACGGCCCCTTCTGTTCTACAGCAAGTAAGTTCCCCTCTGGATGGCTTGGG
727502767	172190	NM_005360.4(MAF):c.172A>G (p.Thr58Ala)	MAF	May 07, 2015	MedGen:C1832812,OMIM:601088,Orphanet:ORPHA477668	Ayme-gripp syndrome	de novo;germline	16	79599731	CGTCTCATCGCCGGGGGCTCGCTGTCCTCCACCCCCATGAGCACGCCGTGCAGCTCGGTGC
794728010	15269	NM_001914.3(CYB5A):c.130-2A>G	CYB5A	Mar 20, 1986	MedGen:C2673427,OMIM:250790	Methemoglobinemia type 4	germline	18	74263479	AAAAATTTTTATTCTACCTCTCCTTTGAACAGCATCCTGGTGGGGAAGAAGTTTTAAGGGA
121913083	31550	NM_000043.5(FAS):c.353A>G (p.Asn118Ser)	FAS	Apr 11, 2013	MedGen:C4016044	SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC	somatic	10	89008907	CTGATTTTCTAGGCTTAGAAGTGGAAATAAACTGCACCCGGACCCAGAATACCAAGTGCAG
794728859	196933	NM_198056.2(SCN5A):c.2788-2A>G	SCN5A	Jul 10, 2013	MedGen:CN517202	not provided	germline	3	38581373	GCCTTGGTGAGCCTGACCCATTATCTCGACAGGTCCTGAATCTCTTCCTGGCCTTGCTGCT
387906873	39350	NM_004544.3(NDUFA10):c.425A>G (p.Gln142Arg)	NDUFA10	Mar 01, 2011	MedGen:C1838951	Leigh syndrome due to mitochondrial complex I deficiency	germline	2	240021232	AGTCCTGGTTGTACAGCAGTCGCCTGCTGCAGTACTCAGATGCCTTGGAGCACTTGCTGAC
77335374	33249	NM_000477.6(ALB):c.714-2A>G	ALB	Apr 01, 1988	MedGen:C0878666,OMIM:616000,Orphanet:ORPHA86816	Analbuminemia	germline	4	73411994	AATACCATTTTGATTGGCGATTTTCTTTTTAGGGCAGTAGCTCGCCTGAGCCAGAGATTTC
104894502	27494	NM_001018005.1(TPM1):c.539A>G (p.Glu180Gly)	TPM1	Apr 17, 2017	MedGen:C1861863,OMIM:115196;MedGen:CN517202	Familial hypertrophic cardiomyopathy 3;not provided	germline	15	63060915	TCATCATTGAGAGCGACCTGGAACGTGCAGAGGAGCGGGCTGAGCTCTCAGAAGGGTAAGC
794726768	187848	NM_001165963.1(SCN1A):c.1048A>G (p.Met350Val)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166047749	CCCACTTGCAGCCAATGTCCAGAGGGATATATGTGTGTGAAAGCTGGTAGAAATCCCAATT
869312131	225788	NM_183050.3(BCKDHB):c.964A>G (p.Thr322Ala)	BCKDHB	Jan 01, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	6	80273147	TTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTC
869320694	226760	NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu)	FGFR1	Aug 11, 2016	Human Phenotype Ontology:HP:0009592,MeSH:D001254,MedGen:C0004114,Orphanet:ORPHA94,SNOMED CT:38713004;MedGen:C0406612,OMIM:613001,Orphanet:ORPHA2396,SNOMED CT:238905009;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;Gene:8009,MedGen:C1855472,OMIM:247640;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;Human Phenotype Ontology:HP:0006740,MedGen:C0279680	Astrocytoma;Encephalocraniocutaneous lipomatosis;Glioblastoma;Hepatocellular carcinoma;Lymphoblastic leukemia, acute, with lymphomatous features;Medulloblastoma;Transitional cell carcinoma of the bladder	somatic;unknown	8	38414790	CGGGACATTCACCACATCGACTACTATAAAAAGACAACCAACGTGAGTGCCGACAAGGCCG
755495846	260477	NR_033294.1(SNORD118):n.58A>G	SNORD118	Oct 10, 2016	MedGen:C3281200,OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	germline	17	8173531	TTCCTCCTCCGGAGGGCAGATTAGAACATGATGATTGGAGATGCATGAAACGTGATTAACG
111033639	36446	NM_000155.3(GALT):c.1A>G (p.Met1Val)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34646705	AGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAAC
-1	444567	NM_001609.3(ACADSB):c.303+3A>G	ACADSB	Sep 09, 2016	MedGen:CN517202	not provided	germline	10	123037850	AGTAATACAAGGATTATTTCAACAAGGGGTACATTTCATAATTCTTCCACTTTCAAGCTTC
606231260	167375	NM_023073.3(CPLANE1):c.3290-2A>G	CPLANE1	Mar 01, 2014	MedGen:C2745997,OMIM:277170,Orphanet:ORPHA2754	Orofaciodigital syndrome 6	germline	5	37201810	TAACTATTTTACCAAATTTTTGTATTTGATAGATCCCATTGAAGAGGAAGATGCAAATCTG
398123446	99104	NM_000521.3(HEXB):c.1243-2A>G	HEXB	Mar 19, 2015	MedGen:C0036161,OMIM:268800,Orphanet:ORPHA796,SNOMED CT:23849003;MedGen:CN517202	Sandhoff disease;not provided	germline	5	74718795	ATAATATGTATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATG
1131690801	420017	NM_004928.2(C21orf2):c.320A>G (p.Tyr107Cys)	C21orf2	Jun 23, 2017	MedGen:CN270122,OMIM:617547	RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA	germline	21	44333086	ACCCGTGCTGCGGCACCAGCCCCCACCGCTACCGCATGACCGTGCTGCGCACCCTGCCGCG
121912435	29795	NM_000454.4(SOD1):c.131A>G (p.His44Arg)	SOD1	Apr 01, 1995	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31663848	GAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAA
104894039	18374	NM_203288.1(RP9):c.509A>G (p.Asp170Gly)	RP9	Jun 01, 2006	MedGen:C1867300,OMIM:180104	Retinitis pigmentosa 9	germline	7	33095391	TAAAACAGTTACTGGAGGATTCTACCTCAGATGAAGATAGGAGCAGCTCCAGTTCCTCTGA
121917858	21558	NM_007035.3(KERA):c.740A>G (p.Asn247Ser)	KERA	Jan 01, 2002	MedGen:C1857574,OMIM:217300	Cornea plana 2	germline	12	91055542	CTAAAGTGGCCTTTTTGAGACTAAATCACAACAAACTGTCAGATGAGGGTCTCCCATCAAG
397508328	68091	NM_000492.3(CFTR):c.1A>G (p.Met1Val)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117480095	CCTAGCAGGGACCCCAGCGCCCGAGAGACCATGCAGAGGTCGCCTCTGGAAAAGGCCAGCG
1135401769	424616	NM_016628.4(WAC):c.498-2A>G	WAC	Aug 01, 2017	MedGen:C4225239,OMIM:616708	Desanto-shinawi syndrome	de novo	10	28590718	TTTTATATGTTTATCTTTTTTTTTATTTTTAGAGAACAGAGACAAAAAGAAGCAAACAAGA
142291440	47586	NM_004614.4(TK2):c.278A>G (p.Asn93Ser)	TK2	Dec 06, 2012	MedGen:C3149750,OMIM:609560	Mitochondrial DNA depletion syndrome 2	not provided	16	66536971	TGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATG
886039469	259940	NM_002247.3(KCNMA1):c.2984A>G (p.Asn995Ser)	KCNMA1	Sep 11, 2017	MedGen:C1836173,OMIM:609446,Orphanet:ORPHA79137;MedGen:CN517202	Generalized epilepsy and paroxysmal dyskinesia;not provided	germline	10	76891709	CACTTTCTCTCCTTCCCCAGACGTACTTCAATGACAATATCCTCACCCTGATACGGACCCT
781525096	420976	NM_016589.3(TIMMDC1):c.597-1340A>G	TIMMDC1	Jun 28, 2017	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	3	119515865	CTGTCAGTTCTTCTGTTTTTATTAGTTGGTATTTGTCTGACTAGAAGAGTGCTACCTTCGT
28941769	19003	NM_000356.3(TCOF1):c.149A>G (p.Tyr50Cys)	TCOF1	Jul 01, 2002	MedGen:CN119605,OMIM:154500	Treacher Collins syndrome 1	germline	5	150361196	TGGCTCAGCCCGTAACCCTTCTGGACATCTATACACACTGGCAACAGTAAGTGGTGGGGCC
121913243	28926	NM_001127500.2(MET):c.3335A>G (p.His1112Arg)	MET	Oct 04, 2017	MedGen:C1378703;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;MedGen:CN517202	Kidney Carcinoma;Renal cell carcinoma, papillary, 1;not provided	germline;somatic	7	116777410	TTTGCACAGGGCATTTTGGTTGTGTATATCATGGGACTTTGTTGGACAATGATGGCAAGAA
119103264	17316	NM_014874.3(MFN2):c.827A>G (p.Gln276Arg)	MFN2	Feb 01, 2006	MedGen:C0393807,OMIM:601152,Orphanet:ORPHA90120,SNOMED CT:128203003	Hereditary motor and sensory neuropathy with optic atrophy	germline	1	12001411	CACATTTGTTTGGGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGT
397515756	51453	NM_000138.4(FBN1):c.1148-2A>G	FBN1	Sep 09, 2015	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48516364	CTGTTGTGTTTTGTTTTGTTGTGTTTTTCTAGAGGATTTCAACAAGCTGTGCTCTGTTCCT
543163491	266484	NM_024301.4(FKRP):c.545A>G (p.Tyr182Cys)	FKRP	Sep 04, 2015	MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	germline	19	46755995	ACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGA
281875236	40163	NM_001004334.3(GPR179):c.659A>G (p.Tyr220Cys)	GPR179	Feb 10, 2012	MedGen:C3281215,OMIM:614565;MedGen:CN517202	Congenital stationary night blindness, type 1E;not provided	germline	17	38343131	GCAGCCCCAAGTGGCCGCAGGCAGATGGATATGTGGGGGACACGCAGCAGGTGAGGCTGTC
104886397	36039	NM_000495.4(COL4A5):c.3998-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108680883	TTGCCATAAAACTGTATGTACCTTCTGTGCAGGCATGAAAGGACCCAGTGGAGTACCTGGA
137852818	26573	NM_003688.3(CASK):c.2129A>G (p.Asp710Gly)	CASK	May 01, 2009	MedGen:C1845546,OMIM:300422	FG syndrome 4	germline	X	41542717	GGTTTGGCAAGAAAAAGAAGCAGTACAAAGATAAATATTTGGCAAAGCACAATGCAGGTAG
121908895	21440	NM_001457.3(FLNB):c.604A>G (p.Met202Val)	FLNB	Apr 01, 2004	MedGen:C0265283,OMIM:108720,Orphanet:ORPHA1190;MedGen:C3668942,OMIM:108721,Orphanet:ORPHA56305	Atelosteogenesis type 1;Atelosteogenesis type 3	germline	3	58078779	CAGAAGCCTGTGGATAATGCACGAGAAGCCATGCAGCAGGCAGATGACTGGCTGGGTGTCC
137852965	19593	NM_153638.3(PANK2):c.700A>G (p.Thr234Ala)	PANK2	Aug 01, 2001	MedGen:C2751506	Neurodegeneration with brain iron accumulation 1, atypical	germline	20	3907997	AAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAA
886041974	265040	NM_004493.2(HSD17B10):c.634A>G (p.Lys212Glu)	HSD17B10	May 10, 2017	MedGen:C1845517,OMIM:300438,Orphanet:ORPHA391417;MedGen:CN517202	2-methyl-3-hydroxybutyric aciduria;not provided	germline	X	53431556	GGCACCCCACTGCTGACCAGCCTCCCAGAGAAAGTGTGCAACTTCTTGGCCAGCCAAGTGC
587779575	107171	NM_000090.3(COL3A1):c.1870-2A>G (p.Gly624_Gln641del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997698	TTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGG
869025581	224702	NM_024989.3(PGAP1):c.1090-2A>G	PGAP1	Feb 25, 2016	MedGen:C4014343,OMIM:615802	Mental retardation, autosomal recessive 42	germline	2	196890913	AGCTATATTGAGTGTTTTCCTTCTTTTTGTAGGAATCTGAGAAGATATATTTTACATTTCC
80338669	76437	NM_000081.3(LYST):c.10127A>G (p.Asn3376Ser)	LYST	Feb 16, 2012	MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chédiak-Higashi syndrome	not provided	1	235709107	AAAAGGGGAAGGCTTCTGTTCAAGCGATCAATGTTTTTCATCCTGCTGTAAGTGACTCTTT
137852842	17723	NM_031443.3(CCM2):c.1A>G (p.Met1Val)	CCM2	Mar 22, 2017	MedGen:C1864041,OMIM:603284;MedGen:CN517202	Cerebral cavernous malformations 2;not provided	germline	7	45000334	GGGCGGGCCGCGGGAGCCGCACGCGGCGATATGGAAGAGGAGGGCAAGAAGGGCAAGAAGG
142634031	264584	NM_000359.2(TGM1):c.877-2A>G	TGM1	Nov 03, 2017	MedGen:CN517202	not provided	germline	14	24259813	CTGTCACCTCTGCCCTCCATCCCTCCTTCCAGTTTGACCACGGGGTGCTGGATGCCTGCTT
397515523	76498	NM_000370.3(TTPA):c.191A>G (p.Asp64Gly)	TTPA	Jun 27, 2013	MedGen:C1848533,OMIM:277460,Orphanet:ORPHA96	Ataxia with vitamin E deficiency	not provided	8	63085831	GGTTCCTGCGCGCCCGGGATTTCGATCTGGACCTGGCCTGGCGGGTAAGCGTGCGTGCCCA
267607716	95505	NM_000249.3(MLH1):c.208-2A>G	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37000953	GATTATTTACTCATCTTTTTGGTATCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAG
199469624	106415	NM_017415.2(KLHL3):c.232A>G (p.Met78Val)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137709759	CTGGCAGCCTGCAGCCCCTACTTCTGTGCGATGTTCACAGGTATGGTGAGTGGCCACCATT
267606677	17788	NM_004183.3(BEST1):c.680A>G (p.Tyr227Cys)	BEST1	Feb 07, 2017	MedGen:C2750789;MedGen:C0339510,OMIM:153700,Orphanet:ORPHA1243,SNOMED CT:90036004;MedGen:CN517202	Retinitis pigmentosa, concentric;Vitelliform macular dystrophy type 2;not provided	germline	11	61957430	TGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATAC
104894275	15518	NM_000317.2(PTS):c.155A>G (p.Asn52Ser)	PTS	Sep 25, 2016	MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13	6-pyruvoyl-tetrahydropterin synthase deficiency	germline	11	112228665	AATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGGTGAGAGAAAAACTGATGACAT
387907193	40343	NM_014714.3(IFT140):c.932A>G (p.Tyr311Cys)	IFT140	May 04, 2012	MedGen:C1849437,OMIM:266920,Orphanet:ORPHA140969	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	germline	16	1587275	GATTCTGGGACATAGAACGAGGAGAGAATTATATACTGAGTCCAGATGAGAAGTTTGGCTT
281875331	38556	NM_001101.4(ACTB):c.34A>G (p.Asn12Asp)	ACTB	Sep 17, 2015	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995;MedGen:CN517202	Baraitser-Winter syndrome 1;not provided	germline	7	5529624	GATGATGATATCGCCGCGCTCGTCGTCGACAACGGCTCCGGCATGTGCAAGGCCGGCTTCG
121964961	27057	NM_000532.4(PCCB):c.1304A>G (p.Tyr435Cys)	PCCB	Mar 20, 2017	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136327638	ACACTCAGCATTTGGATCTGTTTTAGGCCTATGGAGGTGCCTATGATGTCATGAGCTCTAA
81002836	67086	NM_000059.3(BRCA2):c.7806-2A>G	BRCA2	Apr 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of ovary	germline;unknown	13	32362521	TTTATGATAATATTCTACTTTTATTTGTTCAGGGCTCTGTGTGACACTCCAGGTGTGGATC
386834103	71323	NM_017890.4(VPS13B):c.6733-2A>G	VPS13B	May 06, 2015	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline	8	99720343	AAAGCTACTAGAATTTTTTTATGATTTTAAAGGTCTTCTGGGGTCAAGAACATTTGAATTG
61752717	17577	NM_000243.2(MEFV):c.2080A>G (p.Met694Val)	MEFV	Jul 19, 2017	MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED CT:12579009;MedGen:CN517202;MedGen:CN169374	Familial Mediterranean fever;not provided;not specified	germline;unknown	16	3243407	CCAGAGAATGGCTACTGGGTGGTGATAATGATGAAGGAAAATGAGTACCAGGCGTCCAGCG
-1	442479	NM_000127.2(EXT1):c.1418-2A>G	EXT1	Apr 06, 2017	Human Phenotype Ontology:HP:0002762,MedGen:C0015306,OMIM:133700,SNOMED CT:254044004	Multiple congenital exostosis	germline	8	117819796	TTCATTAGGCTCTACTCTCCTTTTTATTTCAGGTTTAAAGCCCCCCTCCAAATTCACTGCA
1057524880	380180	NM_203446.2(SYNJ1):c.3365-2A>G	SYNJ1	Jan 17, 2018	MedGen:CN240908,OMIM:617389	Epileptic encephalopathy, early infantile, 53	germline	21	32645791	GCTGATCTTCTTACCTCCTGTGCGCTTTTTAGGTTCTCCTATTGACGCGCAGCCAGCAACG
886041088	263802	NM_002024.5(FMR1):c.420-8A>G	FMR1	Feb 11, 2016	Human Phenotype Ontology:HP:0001249,MedGen:C1843367	Intellectual disability	maternal	X	147929940	GTAATTATTCATCTTAATTTTTTTTTTTAAATTTCTAGGTGTGCCAAAGAGGCGGCACATA
587776766	27318	NM_000463.2(UGT1A1):c.1085-2A>G	UGT1A1	Mar 01, 1998	MedGen:C0010324,OMIM:218800,Orphanet:ORPHA79234	Crigler Najjar syndrome, type 1	germline	2	233768218	ACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACC
144078282	185683	NM_030813.5(CLPB):c.1222A>G (p.Arg408Gly)	CLPB	Oct 05, 2017	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038;MedGen:CN517202	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia;not provided	germline;paternal	11	72302339	TACTTGCTTGTTTCCACACAGGGCTTCATCAGGCTGGACATGTCCGAGTTCCAGGAGCGAC
137852429	25276	NM_000132.3(F8):c.1892A>G (p.Asn631Ser)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154953903	AGCTTGAGGATCCAGAGTTCCAAGCCTCCAACATCATGCACAGTGAGTAAAGCAGCACTTA
80358066	246810	NM_007294.3(BRCA1):c.5075-2A>G	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43063953	TTCTAATCCTTTGAGTGTTTTTCATTCTGCAGATGCTGAGTTTGTGTGTGAACGGACACTG
1131691562	421983	NM_000257.3(MYH7):c.1810A>G (p.Thr604Ala)	MYH7	Sep 28, 2015	MedGen:CN517202	not provided	germline	14	23427663	CTGCAGAAGAACAAGGATCCTCTCAATGAGACTGTCGTGGGCTTGTATCAGAAGTCTTCCC
80356890	70031	NM_007294.3(BRCA1):c.5053A>G (p.Thr1685Ala)	BRCA1	Jul 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	43067629	ACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAGGTATACCAA
755659290	361953	NM_000243.2(MEFV):c.1211A>G (p.His404Arg)	MEFV	Jan 25, 2017	MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:310701003	Behcet's syndrome	germline	16	3249480	TCTGCCTCATCTGCAGTCTGAGTCAGGAGCACCAAGGCCACCGGGTGCGCCCCATTGAGGA
397514501	48033	NM_007171.3(POMT1):c.430A>G (p.Asn144Asp)	POMT1	Dec 01, 2012	MedGen:C1836373,OMIM:609308,Orphanet:ORPHA86812	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	germline	9	131508913	ATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGC
886041921	264901	NM_015295.2(SMCHD1):c.848A>G (p.Tyr283Cys)	SMCHD1	Sep 02, 2016	MedGen:CN517202	not provided	germline	18	2688722	AGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGGTACA
397515449	71450	NM_014795.3(ZEB2):c.3134A>G (p.His1045Arg)	ZEB2	Jul 01, 2013	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144389962	CGTTTAAACACAAGCACCACCTTATCGAGCACTCAAGGCTTCACTCGGGCGAGAAGCCCTA
786200938	75079	NM_080605.3(B3GALT6):c.1A>G (p.Met1Val)	B3GALT6	Jun 06, 2013	MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED CT:254100000	Spondyloepimetaphyseal dysplasia with joint laxity	germline	1	1232279	GGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGC
104894728	27462	NM_000363.4(TNNI3):c.569A>G (p.Asp190Gly)	TNNI3	Jan 01, 2003	MedGen:C1860752,OMIM:613690;MedGen:C1861861,OMIM:115210	Familial hypertrophic cardiomyopathy 7;Familial restrictive cardiomyopathy 1	germline	19	55151898	CCATCCTCCAGGAAAACCGGGAGGTGGGAGACTGGCGCAAGAACATCGATGCACTGAGTGG
397515519	76489	NM_000207.2(INS):c.*59A>G	INS	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	2159793	CCGCCTCCTGCACCGAGAGAGATGGAATAAAGCCCTTGAACCAGCCCTGCTGTGCCGTCTG
81002895	67553	NM_000059.3(BRCA2):c.9649-2A>G	BRCA2	Dec 23, 2003	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32398160	TATGATAGGCTACGTTTTCATTTTTTTATCAGATGTCTTCTCCTAATTGTGAGATATATTA
878853279	237806	NM_001197181.1(TUBB3):c.946A>G (p.Met316Val)	TUBB3	Sep 22, 2016	MedGen:C3279670,OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	germline	16	89935613	TTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGT
199472700	77985	NM_000218.2(KCNQ1):c.592A>G (p.Ile198Val)	KCNQ1	Sep 10, 2015	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2570742	TGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCT
727504239	175632	NM_000257.3(MYH7):c.1954A>G (p.Arg652Gly)	MYH7	Nov 18, 2016	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	23427242	TCGTCCTTTCAGACTGTGTCAGCTCTGCACAGGGTGAGTGGGACACAGCCCCAGCCAACTT
1057516211	354190	NM_004208.3(AIFM1):c.1436A>G (p.Gln479Arg)	AIFM1	Dec 12, 2016	MedGen:C3151753,OMIM:300816,Orphanet:ORPHA238329	Combined oxidative phosphorylation deficiency 6	germline	X	130133325	TGACTGGAGCTGCTAAGCCGTACTGGCATCAGTCAATGTTCTGGTAATAGTGGTGTGCCTT
398123639	99790	NM_001848.2(COL6A1):c.805-2A>G	COL6A1	Aug 28, 2012	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	45989082	CTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGG
119466001	18054	NM_176824.2(BBS7):c.968A>G (p.His323Arg)	BBS7	Mar 01, 2003	MedGen:C1859565,OMIM:615984	Bardet-Biedl syndrome 7	germline	4	121847473	GGGTTACAGGTCTGACAACAGAGCCCATTCATAAGGAAAGTGGACCAGGAGAAGAACTAAA
1114167468	419879	NM_000548.4(TSC2):c.5161-2A>G	TSC2	Nov 16, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	2088225	ATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTC
483353013	136583	NM_002332.2(LRP1):c.3734A>G (p.Lys1245Arg)	LRP1	Nov 14, 2016	MedGen:C0263429,OMIM:209700,Orphanet:ORPHA79100,SNOMED CT:2736005;MedGen:C0263383,OMIM:604093,SNOMED CT:5132005	Atrophoderma vermiculatum;Keratosis pilaris	germline	12	57175646	AAAAGTGCGACCAGAACAAGTTCAGCGTGAAGTGCTCCTGCTACGAGGGCTGGGTCCTGGA
61749457	105083	NM_000350.2(ABCA4):c.3055A>G (p.Thr1019Ala)	ABCA4	Mar 18, 2015	MedGen:CN517202	not provided	germline	1	94043471	CTTTTCTCGTTGTCCCATCCTCCTAGCCTCACGGTGGCTGAGCACATGCTGTTCTATGCCC
398123425	99048	NM_000489.4(ATRX):c.536A>G (p.Asn179Ser)	ATRX	Jun 02, 2016	MedGen:CN517202	not provided	germline	X	77688876	TGAGCTGCACTGCTTGTGGACAACAGGTCAATCATTTTCAAAAAGATTCCATTTATAGACA
312262820	49529	NM_003611.2(OFD1):c.290A>G (p.Glu97Gly)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13736656	ATGAATATTCACTTTCTGTTTTCTTTCCAGAAAGTGGTTTGGCAAAAGAAAAGGTAAAGTC
762873763	440123	NM_001080463.1(DYNC2H1):c.767-2A>G	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	maternal	11	103117629	TCCCTTAAACTCTTTGCTTTATGTTTTATTAGGTGGTTCATTTGGAAGGTTTGTTCAGAAA
727503873	177617	NM_013382.5(POMT2):c.1726-2A>G	POMT2	Feb 17, 2014	MedGen:CN517202	not provided	germline	14	77280082	CCTGGGTCAGCAGGGTGGTCTCTATTCCACAGGGCCTACGCTTCTCAGGGGTCAATGACAC
-1	468384	NM_000546.5(TP53):c.673-2A>G	TP53	Mar 21, 2017	MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001	Li-Fraumeni syndrome	germline	17	7674292	TGGCCTCATCTTGGGCCTGTGTTATCTCCTAGGTTGGCTCTGACTGTACCACCATCCACTA
-1	214858	NM_016218.3(POLK):c.1381A>G (p.Lys461Glu)	POLK	Apr 17, 2014	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75593902	TTATAGGGTAGAACTGTTACCATTAAGTTGAAGAATGTGAATTTTGAAGTAAAAACTCGTG
104894510	17300	NM_000101.3(CYBA):c.281A>G (p.His94Arg)	CYBA	Nov 01, 1992	MedGen:C1856255,OMIM:233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	germline	16	88646761	CCAGGAATTACTATGTTCGGGCCGTCCTGCATCTCCTGTGAGTCCCCGTCCCGCACCCCCT
267607599	77708	NM_170707.3(LMNA):c.1366A>G (p.Asn456Asp)	LMNA	Oct 17, 2016	MedGen:CN043576;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;not provided	germline	1	156136422	GATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAG
724160004	172132	NM_014305.3(TGDS):c.269A>G (p.Glu90Gly)	TGDS	Dec 04, 2014	Gene:100862706,MedGen:C1844887,OMIM:616145,Orphanet:ORPHA1388	Catel Manzke syndrome	germline	13	94590897	CTCACTTTGTGAAACTGCTTTTTGAAACAGAGAAAATAGATATAGTACTACATTTTGCCGC
397514731	75250	NM_003793.3(CTSF):c.962A>G (p.Gln321Arg)	CTSF	May 25, 2016	MedGen:C3715049,OMIM:615362,Orphanet:ORPHA352709	Ceroid lipofuscinosis, neuronal, 13	germline	11	66565833	ACCAGGGGACCCTGCTCTCCCTCTCTGAACAGGGTGAGCATCTCGCTCTACTCCTCTGTCC
45517174	58795	NM_000548.4(TSC2):c.1444-2A>G	TSC2	Jun 07, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2064270	GGCGCTCATTGGCCTCCCTTGTGCCTGTGCAGGAGGAGCTGATTAACTCAGTGGTCATCTC
118204440	15740	NM_000512.4(GALNS):c.1460A>G (p.Asn487Ser)	GALNS	Jan 01, 1995	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88818029	AGGCCTTGGTCCCCGCGCAGCCCCAGCTCAACGTGTGCAACTGGGCGGTCATGGTAAGTGG
121913478	28316	NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys)	FGFR2	Jul 06, 2017	MedGen:C1852406,OMIM:123790;Human Phenotype Ontology:HP:0012114,MedGen:C0476089,OMIM:608089,SNOMED CT:254878006;MeSH:D016889,MedGen:C0014170;MedGen:CN231480;MedGen:CN517202	Cutis Gyrata syndrome of Beare and Stevenson;Endometrial carcinoma;Endometrial neoplasm;FGFR2 related craniosynostosis;not provided	de novo;germline;somatic;unknown	10	121515280	GAGAAAAGGAGATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACTGCATAGGGGT
11554290	28939	NM_002524.4(NRAS):c.182A>G (p.Gln61Arg)	NRAS	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;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:0005600,MedGen:C1842036,OMIM:137550,Orphanet:ORPHA626;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:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;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:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009303,MedGen:C0027439;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;MedGen:C0544862,OMIM:249400,Orphanet:ORPHA2481;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MedGen:C0279663;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;Human Phenotype Ontology:HP:0006731,MedGen:C0206682,OMIM:188470;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:CN517202	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of stomach;Adrenocortical carcinoma;Chronic lymphocytic leukemia;Colorectal Neoplasms;Congenital giant melanocytic nevus;Epidermal nevus;Epidermal nevus syndrome;Glioblastoma;Hepatocellular carcinoma;Malignant melanoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Nasopharyngeal Neoplasms;Neoplasm of brain;Neurocutaneous melanosis;Non-small cell lung cancer;Ovarian Serous Cystadenocarcinoma;Renal cell carcinoma, papillary, 1;Thyroid cancer, follicular;Transitional cell carcinoma of the bladder;not provided	germline;somatic	1	114713908	GTTTGTTGGACATACTGGATACAGCTGGACAAGAAGAGTACAGTGCCATGAGAGACCAATA
869312883	226596	NM_006060.5(IKZF1):c.629A>G (p.Tyr210Cys)	IKZF1	Aug 25, 2016	MedGen:C4225173,OMIM:616873,Orphanet:ORPHA317473	Immunodeficiency, common variable, 13	germline	7	50387384	CTCACAAATGTGGATATTGTGGCCGAAGCTATAAACAGCGAAGCTCTTTAGAGGAACATAA
200926928	186936	NM_000520.5(HEXA):c.986+3A>G	HEXA	Oct 13, 2016	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	maternal;unknown	15	72349076	GAGGAGATGAGGTTGATTTCACCTGCTGGTATGAGCCCTTTGATCTTCCCACTGTGGCCTG
587779401	106588	NM_000203.4(IDUA):c.1874A>G (p.Tyr625Cys)	IDUA	-	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473	Hurler syndrome	inherited	4	1004305	CTGGCTCCTACCGAGTTCGAGCCCTGGACTACTGGGCCCGACCAGGCCCCTTCTCGGACCC
886039387	260341	NM_000206.2(IL2RG):c.270-15A>G	IL2RG	Sep 20, 2016	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006;MedGen:CN517202	X-linked severe combined immunodeficiency;not provided	germline	X	71110703	AGATTGGCCCCACTGTTCCTCTTCCTTCCAACCTTTCTCCTCTAGGTACAAGAACTCGGAT
886044152	273560	NM_001277115.1(DNAH11):c.4818-2A>G	DNAH11	Jul 12, 2016	MedGen:C2678473,OMIM:611884	Ciliary dyskinesia, primary, 7	germline	7	21638937	GATATGCTTAAAAACATTTTTCATTCATGTAGGCTTTCTCTTTGTGAAAAAGCTCTCGCTG
587783557	169889	NM_178151.2(DCX):c.520A>G (p.Lys174Glu)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401175	AGCAGCAACAGTGCACAGGCCAGGGAGAACAAGGACTTTGTGCGCCCCAAGCTGGTTACCA
61754010	15357	NM_000552.4(VWF):c.1583A>G (p.Asn528Ser)	VWF	Jun 03, 2010	MedGen:CN517202;MedGen:C1282968,Orphanet:ORPHA166084	not provided;von Willebrand disease, type 2a	germline	12	6057995	GGAAGACCTGCGGCCTGTGTGGGAATTACAATGGCAACCAGGGCGACGACTTCCTTACCCC
137852891	17827	NM_000158.3(GBE1):c.1883A>G (p.His628Arg)	GBE1	Apr 02, 2009	MedGen:C1856305,Orphanet:ORPHA308698;MedGen:C0017923,OMIM:232500,SNOMED CT:11179002	Glycogen storage disease IV, childhood neuromuscular;Glycogen storage disease, type IV	germline	3	81535246	GAGCAGGTCTTCTTTTCATTTTCAACTTCCATCCAAGCAAGAGCTACACTGACTACCGAGT
121918232	16478	NM_015697.7(COQ2):c.683A>G (p.Asn228Ser)	COQ2	Jun 07, 2016	MedGen:CN229570,Orphanet:ORPHA35656;MedGen:C1843920,OMIM:607426	Coenzyme Q10 deficiency, primary;Coenzyme Q10 deficiency, primary 1	germline	4	83273505	CCCTGGCACTGGGTGTTCTTCTGTGTCTAAATTACTACAGGTATATTAAACGTTTTCCACA
1024611	29246	NG_012123.1:g.2493A>G	CCL2	Jan 15, 2009	MedGen:C1834751;MedGen:C1834750;MedGen:C1834752,OMIM:607948;na	Coronary artery disease, development of, in hiv;Coronary artery disease, modifier of;Mycobacterium tuberculosis, susceptibility to;Spina bifida, susceptibility to	germline	17	34252769	TGACAGAGCAGAAGTGGGAGGCAGACAGCTATCACTTTCCAGAAGACTTTCTTTTCTGATT
397514353	36338	NM_000060.4(BTD):c.356A>G (p.Asn119Ser)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15641954	TGTTTCCAGAAGATGGCATTCATGGATTCAACTTTACAAGAACATCCATTTATCCATTTTT
1057519432	362155	NM_052867.3(NALCN):c.1639A>G (p.Met547Val)	NALCN	-	MedGen:C4225398,OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	de novo	13	101192042	TTGTTCTTTTCCTCTTAGGCATTTATGTCCATGTTCCAGATCCTCACCCAGGAAGGATGGG
137852277	25689	NM_000133.3(F9):c.1231A>G (p.Ser411Gly)	F9	Mar 01, 1992	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561916	GAAGGAGGTAGAGATTCATGTCAAGGAGATAGTGGGGGACCCCATGTTACTGAAGTGGAAG
121964993	27011	NM_000108.4(DLD):c.1081A>G (p.Met361Val)	DLD	Nov 01, 2001	MedGen:CN043137,OMIM:246900	Maple syrup urine disease, type 3	germline	7	107917307	TATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCACAAAGCAGAGGATGAAGGCA
869312814	226423	NM_033419.4(PGAP3):c.845A>G (p.Asp282Gly)	PGAP3	Oct 04, 2016	MedGen:C3810354,OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	germline;unknown	17	39673105	TTGACTTCCCACCGCTCTTCTGGGTCCTGGATGCCCATGCCATCTGGCACATCAGCACCAT
374270071	362107	NM_182476.2(COQ6):c.1235A>G (p.Tyr412Cys)	COQ6	Jun 07, 2016	MedGen:C3553349,OMIM:614650,Orphanet:ORPHA280406	Coenzyme Q10 deficiency, primary, 6	germline	14	73961761	CTTCAGGTTCCGTGAGCCACCTCACAGGTTATGAAACAGAAAGACAGCGTCACAACACTGC
-1	486796	NM_178517.4(PIGW):c.460A>G (p.Arg154Gly)	PIGW	Mar 09, 2018	MedGen:C4014958,OMIM:616025	Hyperphosphatasia with mental retardation syndrome 5	germline	17	36537561	ATTTTGGCTGTGGACTTCCCACTTTTTCCCAGAAGATTTGCCAAAACTGAGCTCTATGGGA
-1	443453	NM_001904.3(CTNNB1):c.937-2A>G	CTNNB1	May 26, 2016	MedGen:CN517202	not provided	germline	3	41227206	GACTAACAAGATATATATATATATCTTTCTAGCTCATCATACTGGCTAGTGGTGGACCCCA
78950939	18666	NM_000250.1(MPO):c.518A>G (p.Tyr173Cys)	MPO	Jun 15, 1998	MedGen:C0398595,OMIM:254600,Orphanet:ORPHA2587,SNOMED CT:129644003,SNOMED CT:234433009	Myeloperoxidase deficiency	germline	17	58279553	TGGGGGTGACTTGCCCGGAGCAGGACAAATACCGCACCATCACCGGGATGTGCAACAACAG
104886344	35831	NM_000495.4(COL4A5):c.2147-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108602962	TGGTGGTTAAAAAATGACTTATCATTTTACAGGCTTTCCTGGAATTCCAGGACCTCCAGGA
68033093	103124	NM_000531.5(OTC):c.524A>G (p.Asp175Gly)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401412	ATTTGTACCATCCTATCCAGATCCTGGCTGATTACCTCACGCTCCAGGTTGGTTTATTTAT
762028704	434168	NM_000384.2(APOB):c.10739A>G (p.Asn3580Ser)	APOB	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21006129	ACTTACAGCTAGAGGGCCTCTTTTTCACCAACGGAGAACATACAAGCAAAGCCACCCTGGA
104894541	17248	NM_024006.5(VKORC1):c.172A>G (p.Arg58Gly)	VKORC1	Feb 05, 2004	MedGen:CN078029,OMIM:122700	Warfarin response	germline	16	31094558	GCCATCAGCTGTTCGCGCGTCTTCTCCTCCAGGTGTGCACGGGAGTGGGAGGCGTGGGGCC
5030804	99233	NM_000551.3(VHL):c.233A>G (p.Asn78Ser)	VHL	Jun 13, 2017	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	10142080	CGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATG
1064796581	411189	NM_001456.3(FLNA):c.2566-2A>G	FLNA	Feb 27, 2017	MedGen:CN517202	not provided	germline	X	154362334	CCTCTAAGGCCTTCTCCTCCCACTGCCTGCAGGCCACGCCCACCAGCCCCATCCGAGTCAA
121918178	15938	NM_000181.3(GUSB):c.1484A>G (p.Tyr495Cys)	GUSB	Apr 01, 1995	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	germline	7	65967900	GGGCTCTGCTGCTCTGGTCCTAGGCTCCGTATGTGGATGTGATCTGTTTGAACAGCTACTA
72547575	16683	NM_000382.2(ALDH3A2):c.1157A>G (p.Asn386Ser)	ALDH3A2	May 01, 2000	MedGen:C0037231,OMIM:270200,Orphanet:ORPHA816,SNOMED CT:111303009	Sjögren-Larsson syndrome	germline	17	19664997	ATGAGACATCCAGTGGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTC
587781525	150855	NM_000546.5(TP53):c.842A>G (p.Asp281Gly)	TP53	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;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;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:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C0027819,OMIM:256700;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	Adenocarcinoma of lung;Adenocarcinoma of stomach;Chronic lymphocytic leukemia;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of the breast;Neuroblastoma;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	germline;somatic	17	7673778	AGGTGCGTGTTTGTGCCTGTCCTGGGAGAGACCGGCGCACAGAGGAAGAGAATCTCCGCAA
121908634	21075	NM_001128227.2(GNE):c.604A>G (p.Met202Val)	GNE	Dec 10, 2002	MedGen:C1853926,OMIM:605820	Nonaka myopathy	germline	9	36246136	ACCCGCAGTGCAGAGCAGCACCTGATATCCATGTGTGAGGACCATGATCGCATCCTTTTGG
371981035	55440	NM_032119.3(ADGRV1):c.14973-2A>G	ADGRV1	Apr 24, 2012	MedGen:C1854237,OMIM:605472	Usher syndrome, type 2C	germline	5	90810231	TCAATTTCTTCATGATTTAATTTTTTTCCCAGATCAGGTTTCATTGTTGCTGAAATTGAAC
587777530	143267	NM_017565.3(FAM20A):c.720-2A>G	FAM20A	Jan 01, 2013	MedGen:C2931783,OMIM:204690,Orphanet:ORPHA1031,SNOMED CT:109477002	Enamel-renal syndrome	germline	17	68543723	AGTCCAGGGCGTGATTCCTTCCTTCCTTCCAGACAGCAGCGAGATGAGGAGACACCAGTGG
879254212	245080	NM_000546.5(TP53):c.97-2A>G	TP53	Feb 01, 2016	MedGen:CN517202	not provided	germline	17	7676274	GTCCTCTGACTGCTCTTTTCACCCATCTACAGTCCCCCTTGCCGTCCCAAGCAATGGATGA
28937272	25251	NM_000132.3(F8):c.1331A>G (p.Lys444Arg)	F8	Aug 15, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154966082	GCCCTCAGCGGATTGGTAGGAAGTACAAAAAAGTCCGATTTATGGCATACACAGATGAAAC
886041408	264642	NM_003482.3(KMT2D):c.401-3A>G	KMT2D	Feb 20, 2016	MedGen:CN517202	not provided	germline	12	49054419	TTCCTTTCTCTTTACCTCTTCCCACCTGTAAAGGGTCCTGCTGGGCTCACCATTGGTGTGC
104893866	15533	NM_000320.2(QDPR):c.449A>G (p.Tyr150Cys)	QDPR	Jan 01, 1998	MedGen:C0268465,OMIM:261630,Orphanet:ORPHA226,SNOMED CT:58256000	Dihydropteridine reductase deficiency	germline	4	17492328	CTTCTCCCCATTTCCCAGGTATGATCGGGTACGGCATGGCCAAGGGTGCTGTTCACCAGCT
397516161	52092	NM_000257.3(MYH7):c.2681A>G (p.Glu894Gly)	MYH7	Jul 10, 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;MedGen:CN169374	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided;not specified	germline	14	23424148	ACAGCCTCCCCTCTGTTCCTCACCTTCAGGAACAAGACAACCTGGCAGATGCTGAGGAGCG
786203157	182959	NM_004329.2(BMPR1A):c.1A>G (p.Met1Val)	BMPR1A	Aug 17, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome	germline	10	86876019	ACAGTACACAGGAAACATTACAATTGAACAATGCCTCAGCTATACATTTACATCAGATTAT
863223424	209588	NM_001204.6(BMPR2):c.853-2A>G	BMPR2	Jul 11, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN517202	Primary pulmonary hypertension;not provided	germline	2	202520085	TTTTTTTTTTTCGCATTTTTTCCTCTATATAGGGATCTTTATGCAAGTATTTAAGTCTCCA
267607780	95789	NM_000249.3(MLH1):c.677+3A>G	MLH1	Mar 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;unknown	3	37012102	GCTCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAAATCTTTTA
63750399	33135	NM_000484.3(APP):c.2146A>G (p.Ile716Val)	APP	Nov 01, 1997	MedGen:C1863052;MedGen:CN517202	Alzheimer disease, type 1;not provided	germline	21	25891787	ATGGTGGGCGGTGTTGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGAAGAAGA
121913583	29205	NM_000530.7(MPZ):c.286A>G (p.Lys96Glu)	MPZ	Jan 01, 1994	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161306870	CAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTC
193922886	28026	NM_000540.2(RYR1):c.14647-1449A>G	RYR1	May 15, 2003	Human Phenotype Ontology:HP:0003789,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905;MedGen:CN517202	Minicore myopathy;not provided	germline;unknown	19	38583494	CAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAG
1114167431	417343	NM_020988.2(GNAO1):c.737A>G (p.Glu246Gly)	GNAO1	Jun 02, 2017	MedGen:CN244050,OMIM:617493	Neurodevelopmental disorder with involuntary movements	germline	16	56351397	CCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAA
59593133	426960	NM_001171.5(ABCC6):c.2224A>G (p.Ile742Val)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182435	CAGCCAGATGTGGACAGCTTCCCTGAGGGAATCCACACTTCAATTGGGGAGCAGGTGAGAG
121908148	19411	NM_001243133.1(NLRP3):c.1880A>G (p.Glu627Gly)	NLRP3	Nov 01, 2001	MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000	Familial cold urticaria	germline	1	247425329	AAAAGCTGCAGATCCAGCCCAGCCAGCTGGAATTGTTCTACTGTTTGTACGAGATGCAGGA
119467003	18463	NM_018319.3(TDP1):c.1478A>G (p.His493Arg)	TDP1	Oct 01, 2002	MedGen:C1846574,OMIM:607250,Orphanet:ORPHA94124	Spinocerebellar ataxia autosomal recessive with axonal neuropathy	germline	14	89993420	AGACTTCTGGCCGCAGCAATGCCATGCCACATATTAAGACATATATGAGGCCTTCTCCAGA
587777651	153772	NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly)	HSD17B10	Feb 01, 2010	MedGen:C1845517,OMIM:300438,Orphanet:ORPHA391417	2-methyl-3-hydroxybutyric aciduria	germline	X	53432347	CTCTAGCAAAAGGAAAGTTTGGCCGTGTGGATGTAGCTGTCAACTGTGCAGGCATCGCGGT
28936669	24230	NM_000095.2(COMP):c.1418A>G (p.Asp473Gly)	COMP	Dec 01, 1998	MedGen:C0410538,OMIM:177170,Orphanet:ORPHA750,SNOMED CT:22567005	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	germline	19	18786036	GCCAGGGTGATGCCTGCGACGACGACGACGACAATGACGGAGTCCCTGACAGTCGGGACAA
397509212	70012	NM_007294.3(BRCA1):c.4987-2A>G	BRCA1	Oct 02, 2015	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	43067697	TCATGATAATGGAATATTTGATTTAATTTCAGATGCTCGTGTACAAGTTTGCCAGAAAACA
104894452	29032	NM_000270.3(PNP):c.575A>G (p.Tyr192Cys)	PNP	Dec 01, 1996	MedGen:C0268125,OMIM:613179,Orphanet:ORPHA760,SNOMED CT:60743005	Purine-nucleoside phosphorylase deficiency	germline	14	20475175	GGGAGCAACGTGAGCTACAGGAAGGCACCTATGTGATGGTGGCAGGCCCCAGCTTTGAGAC
5030773	29452	NM_000894.2(LHB):c.221A>G (p.Gln74Arg)	LHB	Jan 16, 1992	MedGen:C0271582,OMIM:228300,Orphanet:ORPHA325448,SNOMED CT:8829008	Isolated lutropin deficiency	germline	19	49016273	TGCTGCAGGCGGTCCTGCCGCCCCTGCCTCAGGTGGTGTGCACCTACCGTGATGTGCGCTT
267607900	220983	NM_000249.3(MLH1):c.2263A>G (p.Arg755Gly)	MLH1	Nov 24, 2015	MedGen:C2936783,OMIM:120435	Lynch syndrome I	germline	3	37050645	AACCTGCCTGATCTATACAAAGTCTTTGAGAGGTGTTAAATATGGTTATTTATGCACTGTG
104886319	35740	NM_000495.4(COL4A5):c.1340-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591559	TTAGCTTGCTATCCTTTCTTTATCTTACTCAGGTGATGAGATATGTGAACCAGGCCCTCCA
104894199	27792	NM_000073.2(CD3G):c.1A>G (p.Met1Val)	CD3G	Aug 20, 1992	MedGen:C3810107,OMIM:615607,Orphanet:ORPHA169082	Immunodeficiency 17	germline	11	118344424	CCACGCTTTTGCCGGAGGACAGAGACTGACATGGAACAGGGGAAGGGCCTGGCTGTCCTCA
869025216	217241	NM_004423.3(DVL3):c.1715-2A>G	DVL3	Apr 04, 2016	MedGen:C0265205,OMIM:180700,SNOMED CT:76520005;MedGen:C4225164,OMIM:616894	Robinow syndrome;Robinow syndrome, autosomal dominant 3	germline	3	184170317	TGCCCCACCCCGGCCCTGTTTGCCTCCTACAGGCAGTCGGAGCAGTGGCTCCAACCGTAGC
374343844	226718	NM_002296.3(LBR):c.1640A>G (p.Asn547Ser)	LBR	-	MedGen:CN235880	Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia	germline	1	225404451	CTGGATGGTGGGGCTTTGTTCGCCACCCCAATTACTTGGGTGATCTCATCATGGCCTTGGC
312262901	49418	NM_000095.2(COMP):c.1760A>G (p.His587Arg)	COMP	Dec 19, 2016	MedGen:C0410538,OMIM:177170,Orphanet:ORPHA750,SNOMED CT:22567005;MedGen:CN517202	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;not provided	germline	19	18785050	TCAATGGCGTGGACTTCGAGGGCACGTTCCATGTGAACACGGTCACGGATGACGACTATGC
80358284	226404	NM_012193.3(FZD4):c.313A>G (p.Met105Val)	FZD4	Nov 03, 2016	Gene:1283,Human Phenotype Ontology:HP:0007898,MedGen:C0154832,OMIM:300216,Orphanet:ORPHA190,SNOMED CT:25506007;MeSH:C580083,MedGen:C0339539,Orphanet:ORPHA891;MedGen:CN517202	Exudative retinopathy;Familial exudative vitreoretinopathy;not provided	germline	11	86952443	CAGTTCTTCCTTTGTTCTGTTTATGTGCCAATGTGCACAGAGAAGATCAACATCCCCATTG
387907111	40070	NM_018699.3(PRDM5):c.320A>G (p.Tyr107Cys)	PRDM5	Jun 10, 2011	MedGen:C3280011,OMIM:614170	Brittle cornea syndrome 2	germline	4	120821326	ATTTGTTTCAGGAAGGAGAAAACATTTTCTATTTGGCAGTTGAAGATATAGAAACAGACAC
-1	485768	NM_001042492.2(NF1):c.1393-2A>G	NF1	Oct 06, 2014	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31214449	TGTCTGATACCATGTTTTTGTTTTGTTTTTAGAGTCTTACATTTAAAGAAAAAGTAACAAG
398122404	94423	NM_001256864.1(DNAJC6):c.801-2A>G	DNAJC6	Feb 01, 2014	MedGen:C3809811,OMIM:615528	Parkinson disease 19a, juvenile-onset	germline	1	65385710	GGCCCCAAGAGAGTGCCAACCTTCTGTTTCAGATACCTGGGCTATATGTGTGACCTACTGG
121909222	22855	NM_000314.6(PTEN):c.368A>G (p.His123Arg)	PTEN	Jun 28, 2017	MedGen:CN072330,OMIM:158350;MedGen:CN517202	Cowden syndrome 1;not provided	germline	10	87933127	GTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGT
28937579	21759	NM_001701.3(BAAT):c.226A>G (p.Met76Val)	BAAT	May 01, 2003	MedGen:C1843139,OMIM:607748,Orphanet:ORPHA238475	Hypercholanemia, familial	germline	9	101371179	CTTGGAGGGGATTATATGGGAGTCCACCCCATGGGTCTCTTCTGGTCTCTGAAACCTGAAA
879254914	246173	NM_000527.4(LDLR):c.1466A>G (p.Tyr489Cys)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113642	TGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTC
796052005	200126	NM_000255.3(MUT):c.329A>G (p.Tyr110Cys)	MUT	Jun 12, 2017	MedGen:CN517202	not provided	germline	6	49459138	ATACCTTTAGGCCCTGGACCATCCGCCAGTATGCTGGTTTTAGTACTGTGGAAGAAAGCAA
387906957	39580	NM_016013.3(NDUFAF1):c.758A>G (p.Lys253Arg)	NDUFAF1	Jul 11, 2007	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	15	41394860	CCCGCGGGGGACCCTACTGGCAGGAGGTCAAGGTAACAGCATAAATCTTCATTGTTTATAA
28937877	20110	NM_021615.4(CHST6):c.521A>G (p.Lys174Arg)	CHST6	Jun 14, 2016	MedGen:C1636149,OMIM:217800,Orphanet:ORPHA98969,SNOMED CT:418054005	Macular corneal dystrophy Type I	germline	16	75479308	CCTGCCGCTCCTACAGCCACGTGGTGCTCAAGGAGGTGCGCTTCTTCAACCTGCAGGTGCT
886039465	259835	NM_017651.4(AHI1):c.2493-2A>G	AHI1	Mar 14, 2015	MedGen:CN517202	not provided	germline	6	135428761	AGTTACATTTGTAAAATCTTTTTTGCTTGTAGATTAGTAGCAAGGAAGTTTGTAGGAGCAG
781565158	359188	NM_024854.3(PYROXD1):c.464A>G (p.Asn155Ser)	PYROXD1	Dec 19, 2016	MedGen:C4310645,OMIM:617258	Myopathy, myofibrillar, 8	germline	12	21452130	CTAAAGCTAAAAGAATAATGATCATAGGGAACGGTGGTATTGCACTTGAGTTAGTGTAAGT
863225429	214761	NM_014008.4(CCDC22):c.1670A>G (p.Tyr557Cys)	CCDC22	May 01, 2015	MedGen:C4225419,OMIM:300963	Ritscher-schinzel syndrome 2	germline	X	49249543	CCAAGAAGGACGATGCTGTTCGGAAGGCCTATAAGTATCTAGCTGCTCTGCACGAGGTGAG
121918500	28321	NM_000141.4(FGFR2):c.874A>G (p.Lys292Glu)	FGFR2	May 01, 1997	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008	Crouzon syndrome	germline	10	121520044	AGTGATGCCCAGCCCCACATCCAGTGGATCAAGCACGTGGAAAAGAACGGCAGTAAATACG
121908879	21492	NM_000369.2(TSHR):c.548A>G (p.Lys183Arg)	TSHR	Dec 17, 1998	MedGen:C1863959,OMIM:603373,Orphanet:ORPHA99819	Hyperthyroidism, familial gestational	germline	14	81096641	TGATTTCTCTTCTCTCTGTTGGTTGTAGGAAGCTGTACAACAATGGCTTTACTTCAGTCCA
587777828	21196	NM_152384.2(BBS5):c.522+3A>G	BBS5	May 14, 2004	MedGen:C3892039,OMIM:615983	Bardet-Biedl syndrome 5	germline	2	169493012	TGGAGTTTGGAATTTATCCAGTGATCAGGTATTGTGCAAAGAGCTAGTGAACCTTTTGGGA
886039478	260308	NM_004006.2(DMD):c.8218-2A>G	DMD	Mar 02, 2016	MedGen:CN517202	not provided	germline	X	31507455	CTGCACATATTCTTCTTCCTGCTGTCCTGTAGGACCTCCAAGGTGAAATTGAAGCTCACAC
797044626	190711	NM_000033.3(ABCD1):c.1992-2A>G	ABCD1	Sep 04, 2014	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153743487	CGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCG
606231150	19941	NM_022458.3(LMBR1):c.423+5252A>G	LMBR1	Jan 01, 2007	MedGen:C1868114,OMIM:174500,Orphanet:ORPHA93336;MedGen:C0241397,SNOMED CT:205308004	Polydactyly, preaxial II;Triphalangeal thumb	germline	7	156791137	GTCATGTTTTGATCTTAGTGTTTATTACAGAAAATGAAGCCATATCTCACTAACTATTGTT
111033755	36587	NM_000155.3(GALT):c.752A>G (p.Tyr251Cys)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648826	TACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGT
120074192	18182	NM_000218.2(KCNQ1):c.418A>G (p.Ser140Gly)	KCNQ1	Jan 10, 2003	EFO:EFO_0000275,Human Phenotype Ontology:HP:0005110,MedGen:C1963067;MedGen:C1837014,OMIM:607554	Atrial fibrillation;Atrial fibrillation, familial, 3	germline	11	2527959	TTCCTCATCGTCCTGGTCTGCCTCATCTTCAGCGTGCTGTCCACCATCGAGCAGTATGCCG
121918050	28545	NM_002693.2(POLG):c.2591A>G (p.Asn864Ser)	POLG	Jul 01, 2003	MedGen:C3150914,OMIM:613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	germline	15	89321743	CTGTGGAGCCCACATGGCTCACCGCCAGCAATGCCCGGGTATGTGACCTCTGTACCTCTGG
1057519531	362327	NM_001165963.1(SCN1A):c.603-2A>G	SCN1A	Nov 16, 2016	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166052945	TTTTGTGTTTGTGTGTGAACTCCCTATTACAGGTACGTCACAGAGTTTGTGGACCTGGGCA
141437721	190961	NM_000159.3(GCDH):c.1213A>G (p.Met405Val)	GCDH	Dec 15, 2016	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005;MedGen:CN517202	Glutaric aciduria, type 1;not provided	germline;unknown	19	12897833	TCTGACGAGTATCACGTGATCCGGCACGCCATGAACCTGGAGGCCGTGAACACCTACGAAG
137852470	25367	NM_000132.3(F8):c.6794A>G (p.Gln2265Arg)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154860538	AGACAATGAAAGTCACAGGAGTAACTACTCAGGGAGTAAAATCTCTGCTTACCAGCATGTA
137854887	39507	NM_031885.3(BBS2):c.472-2A>G	BBS2	Oct 05, 2012	MedGen:C2936863,OMIM:615981	Bardet-Biedl syndrome 2	germline	16	56510923	GGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGC
387906778	39081	NM_000890.4(KCNJ5):c.472A>G (p.Thr158Ala)	KCNJ5	Apr 23, 2017	MedGen:C4017656;MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008;MedGen:C3150933,OMIM:613677,Orphanet:ORPHA251274	Aldosterone-producing adrenal adenoma, somatic;Andersen Tawil syndrome;Familial hyperaldosteronism type 3	germline;somatic	11	128911745	ACAACCATTGGGTATGGCTTCCGAGTCATCACAGAGAAGTGTCCAGAGGGGATTATACTCC
886039270	259375	NM_001242896.1(DEPDC5):c.4033+5A>G	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31879757	ACGGAGCCAGGCGGCAGCACTTTTAGGTACATGCTCAACCCAGACAAGGTCTGAGGGTGTG
-1	438517	NM_000474.3(TWIST1):c.350A>G (p.Glu117Gly)	TWIST1	Oct 26, 2017	MedGen:CN570503,OMIM:617746	SWEENEY-COX SYNDROME	germline	7	19116972	AGACGCAGCGGGTCATGGCCAACGTGCGGGAGCGCCAGCGCACCCAGTCGCTGAACGAGGC
119476045	19396	NM_022051.2(EGLN1):c.1121A>G (p.His374Arg)	EGLN1	Dec 18, 2008	MedGen:C1853286,OMIM:609820	Erythrocytosis, familial, 3	germline	1	231370589	TGTTTTTCTGGTCTGACCGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTA
797045181	206572	NM_207352.3(CYP4V2):c.1396A>G (p.Asn466Asp)	CYP4V2	Jun 14, 2013	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	germline	4	186209263	GCCTACGTGCCCTTCTCTGCTGGCCCCAGGAACTGTATAGGTTTGTATCCATCTGAATTGG
730882052	181172	NM_001231.4(CASQ1):c.731A>G (p.Asp244Gly)	CASQ1	Oct 01, 2014	MedGen:C4015624,OMIM:616231,Orphanet:ORPHA88635	Myopathy, vacuolar, with casq1 aggregates	germline	1	160195976	CCTTCATGGAAGAGCCTGTGACCATCCCAGACAAGCCCAATAGCGAAGAGGAGATTGTCAA
121434456	24662	m.10438A>G	MT-TR	Aug 01, 2004	MedGen:C0162666,SNOMED CT:447292006	Mitochondrial encephalomyopathy	germline	MT	10438	TATATAGTTTAAACAAAACGAATGATTTCGACTCATTAAATTATGATAATCATATTTACCA
397518464	94303	NM_000165.4(GJA1):c.617A>G (p.Lys206Arg)	GJA1	Oct 01, 2013	MedGen:C0812437,OMIM:164200	Oculodentodigital dysplasia	germline	6	121447464	TGGACTGTTTCCTCTCTCGCCCCACGGAGAAAACCATCTTCATCATCTTCATGCTGGTGGT
28931576	32910	NM_000041.3(APOE):c.178A>G (p.Thr60Ala)	APOE	Aug 05, 2016	na	APOE3(-)-FREIBURG	germline	19	44907894	CGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGC
587783083	166456	NM_003159.2(CDKL5):c.449A>G (p.Lys150Arg)	CDKL5	Jun 06, 2013	MedGen:CN517202	not provided	germline	X	18581936	ATCTCTTAATCAGCCACAATGATGTCCTAAAACTGTGTGACTTTGGTAAGTTAAAAAGAAA
199474661	24633	m.3252A>G	MT-TL1	Dec 01, 1993	MedGen:C0162666,SNOMED CT:447292006	Mitochondrial encephalomyopathy	germline	MT	3252	CAGGGTTTGTTAAGATGGCAGAGCCCGGTAATCGCATAAAACTTAAAACTTTACAGTCAGA
72554340	103038	NM_000531.5(OTC):c.268A>G (p.Ser90Gly)	OTC	-	MedGen:CN517202	not provided	unknown	X	38369847	AAGTCCTTAGGCATGATTTTTGAGAAAAGAAGTACTCGAACAAGATTGTCTACAGAAACAG
-1	439518	NM_013352.3(DSE):c.799A>G (p.Arg267Gly)	DSE	Nov 08, 2017	MedGen:C3809845,OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type 2	germline	6	116431082	GAAGGAGTTGCGTATGGCAGCTACACCACTAGATCACTCTTCCAATACATGTTTCTCGTCC
281865414	166112	NM_001145026.1(PTPRQ):c.715A>G (p.Arg239Gly)	PTPRQ	Apr 09, 2010	MedGen:C3150654,OMIM:613391	Deafness, autosomal recessive 84	germline	12	80460707	AGTACAGCCAGCCCTTCTCCAACCCTTGGTAGAGTTACACCTCCATCGCGTACCACACATT
869312825	226496	NM_002074.4(GNB1):c.301A>G (p.Met101Val)	GNB1	Mar 17, 2017	Human Phenotype Ontology:HP:0002376,MedGen:C1855009;Human Phenotype Ontology:HP:0011198,MedGen:C4023476;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0002384,MedGen:C0149958;Human Phenotype Ontology:HP:0002069,MedGen:C0494475;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C4310774,OMIM:616973;Human Phenotype Ontology:HP:0010841,MedGen:C4021219;Human Phenotype Ontology:HP:0001252,MedGen:C0026827;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;MedGen:CN517202	Developmental regression;EEG with generalized epileptiform discharges;Expressive language delay;Focal seizures with impairment of consciousness or awareness;Generalized tonic-clonic seizures;Global developmental delay;Intellectual disability;Mental retardation, autosomal dominant 42;Multifocal epileptiform discharges;Muscular hypotonia;Seizures;not provided	de novo;germline	1	1804548	CACGCCATCCCTCTGCGCTCCTCCTGGGTCATGACCTGTGCATATGCCCCTTCTGGGAACT
730881357	180436	NM_000051.3(ATM):c.3154-2A>G	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	108272720	TTTCATATTTAACCACAGTTCTTTTCCCGTAGGCTGATCCTTATTCAAAATGGGCCATTCT
1085307406	414383	NM_000020.2(ACVRL1):c.293A>G (p.Asn98Ser)	ACVRL1	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	12	51913330	ACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAG
267606908	29164	NM_000257.3(MYH7):c.2717A>G (p.Asp906Gly)	MYH7	Oct 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	23424112	ACAACCTGGCAGATGCTGAGGAGCGCTGTGATCAGCTGATCAAAAACAAGATTCAGCTGGA
199422262	47903	NR_001566.1(TERC):n.48A>G	TERC	May 10, 2012	MedGen:C1851970,OMIM:127550	Dyskeratosis congenita autosomal dominant	not provided	3	169765013	CCTGGGAGGGGTGGTGGCCATTTTTTGTCTAACCCTAACTGAGAAGGGCGTAGGCGCCGTG
886039546	260168	NM_139276.2(STAT3):c.1840A>G (p.Ser614Gly)	STAT3	Feb 09, 2016	MedGen:CN517202	not provided	germline	17	42323052	GGCACCTTCCTGCTAAGATTCAGTGAAAGCAGCAAAGAAGGAGGCGTCACTTTCACTTGGG
766132877	39894	NM_024753.4(TTC21B):c.2758-2A>G	TTC21B	Mar 01, 2011	MedGen:C3151186,OMIM:613820	Nephronophthisis 12	germline	2	165899882	GTGTCTGATGAATCTAGCCCTTTGCTCTACAGATTATGTTGGAACTGGCACGATTATACCT
80358222	23953	NM_003051.3(SLC16A1):c.610A>G (p.Lys204Glu)	SLC16A1	Jan 01, 2000	MedGen:C1855577,OMIM:245340,Orphanet:ORPHA171690	Erythrocyte lactate transporter defect	germline	1	112917796	CTCATGCGACCAATCGGGCCCAAGCCAACCAAGGCAGGGAAAGATAAGTCTAAAGCATCCC
137852983	19807	NM_014795.3(ZEB2):c.3356A>G (p.Gln1119Arg)	ZEB2	Jun 01, 2006	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144389740	ACCGGGCTTACTTGCAGAGCATTACCCCTCAGGGGTACTCTGACTCGGAGGAGAGGGAGAG
864309721	215784	NM_001791.3(CDC42):c.191A>G (p.Tyr64Cys)	CDC42	Dec 11, 2017	MedGen:C4225222,OMIM:616737;MedGen:CN517202	Takenouchi-Kosaki syndrome;not provided	germline	1	22086451	TATTTTTCTTTTTTCTAGGGCAAGAGGATTATGACAGATTACGACCGCTGAGTTATCCACA
121918067	28533	NM_000217.2(KCNA1):c.763A>G (p.Asn255Asp)	KCNA1	Jan 01, 2010	MedGen:C4016334	Myokymia 1 with hypomagnesemia	germline	12	4912141	AGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTT
137852814	27910	NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly)	SOS1	Aug 01, 2017	MedGen:CN030594,OMIM:135300;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1853120,OMIM:610733;MedGen:C1853120,OMIM:610733;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Gingival fibromatosis 1;Noonan syndrome;Noonan syndrome 4;Noonan syndrome 4;Rasopathy;not provided	de novo;germline;unknown	2	39022774	ATATCTTTACAGTACCGGAGTACACTGGAAAGGATGCTTGATGTAACAATGCTACAGGAAG
587777878	165479	NM_000166.5(GJB1):c.580A>G (p.Met194Val)	GJB1	-	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	X-linked hereditary motor and sensory neuropathy	germline	X	71224287	CCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCC
104894550	17651	NM_001128085.1(ASPA):c.692A>G (p.Tyr231Cys)	ASPA	Nov 26, 1999	MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005	Spongy degeneration of central nervous system	germline	17	3494407	AGGTCTATAAAATTATAGAGAAAGTTGATTACCCCCGGGATGAAAATGGAGAAATTGCTGC
786205086	21918	NM_003816.2(ADAM9):c.411-8A>G	ADAM9	May 01, 2009	MedGen:C1423873,OMIM:612775	Cone-rod dystrophy 9	germline	8	39017211	TTTTCTTAAAATTTGTATACGTGTAATGCAACATTCAGAGGATTGCTGCATTTAGAGAATG
587776843	31913	NG_012088.1:g.2209A>G	IL10	Jul 01, 2003	MedGen:C1736175	Rheumatoid arthritis, progression of	germline	1	206775286	ACTCTGGGAGGCCAAGGCGGGCGGATCATAAGGTCAGGAGATCGAGACCATCCTGGTTAAC
397514348	36331	NM_000060.4(BTD):c.278A>G (p.Tyr93Cys)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15635657	TGGAGCTCATGAACCAGAACCTTGACATCTATGAACAGCAAGTGATGACTGCAGCCCAAAA
786201161	181613	NM_003000.2(SDHB):c.541-2A>G	SDHB	May 25, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN239418;MedGen:CN517202	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;SDHB-Related Disorders;not provided	germline	1	17024076	CAAGCTCCTGCCTCTCTTTTCTCCCCATACAGGACGGGCTCTACGAGTGCATTCTCTGTGC
118204090	16538	NM_004035.6(ACOX1):c.832A>G (p.Met278Val)	ACOX1	Jan 01, 2002	MedGen:C1849678,OMIM:264470,Orphanet:ORPHA2971	Pseudoneonatal adrenoleukodystrophy	germline	17	75953563	CCGCTGAGTAACAAGCTGACTTACGGGACCATGGTGTTTGTCAGGTCCTTCCTTGTGGGAG
137853035	21552	NM_001080463.1(DYNC2H1):c.5959A>G (p.Thr1987Ala)	DYNC2H1	Oct 16, 2017	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008;MedGen:CN517202	Short-rib thoracic dysplasia 3 with or without polydactyly;not provided	germline	11	103177640	ATTGTTGGTCCAAGTGGTGCTGGAAAATCAACGCTTTGGAGAATGTTAAGGGCTGCGCTTT
62514934	15648	NM_000277.2(PAH):c.662A>G (p.Glu221Gly)	PAH	Aug 01, 1991	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102855180	CACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTC
782726390	214997	NM_003172.3(SURF1):c.107-2A>G	SURF1	Oct 22, 2013	MedGen:C4225246,OMIM:616684,Orphanet:ORPHA391351	Charcot-Marie-Tooth disease, type 4k	germline	9	133354959	TGGCTCCATGTCAGTGTTGTGAAACTCTCCAGGGGTGGCCTGGAGGCCAAGCAGATGTGGC
375032130	370650	NM_004092.3(ECHS1):c.476A>G (p.Gln159Arg)	ECHS1	Nov 16, 2017	MedGen:C4225391,OMIM:616277;MedGen:CN517202	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency;not provided	germline;paternal	10	133368961	GTGATATCATCTATGCCGGTGAGAAGGCCCAGTTTGCACAGCCGGAGATCTTAATAGGAAC
104894861	25533	NM_000202.7(IDS):c.404A>G (p.Lys135Arg)	IDS	Aug 01, 1992	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	germline	X	149503326	AGAATGGCTATGTGACCATGTCGGTGGGAAAAGTCTTTCACCCTGGTACTGCTCCATGTCC
1135402780	425055	NM_000527.4(LDLR):c.2141-2A>G	LDLR	Mar 01, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11123172	GGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAG
1085307221	414157	NM_001204.6(BMPR2):c.370A>G (p.Asn124Asp)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467641	CGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTC
1057518706	361178	NM_000094.3(COL7A1):c.6900+4A>G	COL7A1	May 01, 2016	MedGen:C0432322,OMIM:131750,Orphanet:ORPHA231568	Generalized dominant dystrophic epidermolysis bullosa	paternal	3	48572667	CCTGGCCCCACGGGGGCCCCTGGACAGGTGATCTTTGACCCTGACTTCCACCCCCTGCAGC
1064793739	408507	NM_018082.5(POLR3B):c.2777A>G (p.Asp926Gly)	POLR3B	Jun 10, 2015	MedGen:CN517202	not provided	germline	12	106496118	TGCCATTTTGTGATTCTGGCATCTGTCCGGACATCATCATGAACCCACACGGCTTCCCATC
398123187	98433	NM_000155.3(GALT):c.905-2A>G	GALT	Nov 01, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34649408	TCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCC
879253847	224623	NM_000255.3(MUT):c.1874A>G (p.Asp625Gly)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49440288	CTCGTCTTCTTGTAGCAAAAATGGGACAAGATGGCCATGACAGAGGAGCAAAAGTTATTGC
111033244	19859	NM_000441.1(SLC26A4):c.1151A>G (p.Glu384Gly)	SLC26A4	Aug 10, 2017	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;Pendred's syndrome;Pendred's syndrome;not provided	germline;unknown	7	107690125	GGATCGTTGTCATCCAGTCTCTTCCTTAGGAATTCATTGCCTTTGGGATCAGCAACATCTT
797045825	207198	NM_022455.4(NSD1):c.5990A>G (p.Tyr1997Cys)	NSD1	Oct 17, 2014	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177282562	ATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGG
515726171	132012	NM_021625.4(TRPV4):c.883A>G (p.Thr295Ala)	TRPV4	Apr 02, 2014	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Skeletal dysplasia	germline	12	109798883	GGGGAGCTGCCCCTGTCGCTGGCTGCCTGCACCAACCAGCCCCACATTGTCAACTACCTGA
386134218	36752	NM_003060.3(SLC22A5):c.1340A>G (p.Tyr447Cys)	SLC22A5	Mar 07, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline;unknown	5	132392505	TTGGAGTCACGGCTGCCTTTTCCATGGTCTACGTGTACACAGCCGAGCTGTATCCCACAGT
121908561	20963	NM_000334.4(SCN4A):c.421A>G (p.Ile141Val)	SCN4A	Nov 18, 2008	MedGen:C1868617,OMIM:168300	Paramyotonia congenita of von Eulenburg	germline	17	63972197	ACGCTGTTCAGCATGTTCATCATGATCACCATCTTGACCAACTGCGTATTCATGACCATGA
371837210	431015	NM_000543.4(SMPD1):c.1556A>G (p.Tyr519Cys)	SMPD1	Jun 18, 2017	MedGen:C0268242,OMIM:257200,Orphanet:ORPHA77292,SNOMED CT:52165006	Niemann-Pick disease, type A	inherited	11	6394267	GCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACC
515726153	131990	NM_021625.4(TRPV4):c.1219A>G (p.Lys407Glu)	TRPV4	Apr 02, 2014	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Skeletal dysplasia	germline	12	109796638	GAGGACACACGGCACCTGTCCCGCAAGTTCAAGGACTGGGCCTATGGGCCAGTGTATTCCT
587777618	153711	NM_001759.3(CCND2):c.838A>G (p.Thr280Ala)	CCND2	Aug 08, 2016	MedGen:C4014742,OMIM:615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	germline	12	4299977	AAGTCGGAGGATGAACTGGACCAAGCCAGCACCCCTACAGACGTGCGGGATATCGACCTGT
-1	18690	NM_153603.3(COG7):c.170-7A>G	COG7	Sep 01, 2009	MedGen:C2931010,OMIM:608779,Orphanet:ORPHA79333,SNOMED CT:717773005	COG7 congenital disorder of glycosylation	germline	16	23445968	CTGTTGTTGTTGTTTTTTTTTTTTTTTTTAACTACAGAAACAAGTCACCAAGCTCTCCAGA
531047390	362159	NM_004796.5(NRXN3):c.2023+3A>G	NRXN3	-	Human Phenotype Ontology:HP:0004482,MedGen:C1849075;Human Phenotype Ontology:HP:0004322,MedGen:C0349588	Relative macrocephaly;Short stature	germline	14	78968349	AGCGGACAGATCGAGCGTGGCTGTGAAGGTACAACCTATTTTTTTCTTGTTAAGCTACAGC
786205257	26067	NM_198270.3(NHS):c.853-2A>G	NHS	Sep 01, 2006	MedGen:C0796085,OMIM:302350,SNOMED CT:445257004	Nance-Horan syndrome	germline	X	17721439	GATGGCTGAACCTGATTGTACTTTGTTTGCAGTCCCATCCCCCAGAGGATGAAGATACAGA
387906872	39349	NM_004544.3(NDUFA10):c.1A>G (p.Met1Val)	NDUFA10	Mar 01, 2011	MedGen:C1838951	Leigh syndrome due to mitochondrial complex I deficiency	germline	2	240025301	GGTCCTTGATCCTGAGCTGACCGGGTAGCCATGGCCTTGCGGCTCCTGAAGCTGGCAGCGA
371582179	247388	NM_000404.3(GLB1):c.1733A>G (p.Lys578Arg)	GLB1	Jul 14, 2016	MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002	GM1 gangliosidosis type 2	paternal	3	33014057	ACACCTTTATCCAGTTTCCTGGATGGACCAAGGTACGTGTCTTCATGGGAAGGGTTTGAAT
72551317	76806	NM_000784.3(CYP27A1):c.776A>G (p.Lys259Arg)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218812681	AGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAA
757820624	229545	NM_000441.1(SLC26A4):c.2171A>G (p.Asp724Gly)	SLC26A4	Dec 24, 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	107710135	GAAAGGACACATTCTTTTTGACGGTCCATGATGCTATACTCTATCTACAGAACCAAGTGAA
180177037	29015	NM_004333.4(BRAF):c.1495A>G (p.Lys499Glu)	BRAF	Jul 10, 2017	MedGen:CN029449,OMIM:115150,SNOMED CT:403770008;MedGen:CN517202	Cardiofaciocutaneous syndrome 1;not provided	germline;unknown	7	140778013	GCACCTACACCTCAGCAGTTACAAGCCTTCAAAAATGAAGTAGGAGTACTCAGGTGAGCTT
397514675	49920	NM_003156.3(STIM1):c.251A>G (p.Asp84Gly)	STIM1	Apr 04, 2013	MedGen:C0410207,OMIM:160565,Orphanet:ORPHA2593,SNOMED CT:240087000	Myopathy with tubular aggregates	germline	11	3967663	TGATGGACGATGATGCCAATGGTGATGTGGATGTGGAAGAAAGTGATGAGGTGAGCTCTCC
104893922	24205	NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys)	SMN1	Jun 02, 2017	MedGen:C0043116,OMIM:253300,Orphanet:ORPHA83330,SNOMED CT:64383006;MedGen:CN517202	Werdnig-Hoffmann disease;not provided	germline	5	70946157	GTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATGGTAAGTAATCA
111033669	36480	NM_000155.3(GALT):c.290A>G (p.Asn97Ser)	GALT	Jan 17, 2013	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34647529	CCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCC
370792293	186640	NM_000642.2(AGL):c.664+3A>G	AGL	Apr 21, 2017	MedGen:C1968739;MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease IIIa;Glycogen storage disease type III	germline;unknown	1	99864592	ATTACTGATGTTGTCTACAATCATACTGGTATGAGCTTCATTGACTGCCTTCATTAATTTT
587782360	152001	NM_000314.6(PTEN):c.403A>G (p.Ile135Val)	PTEN	Oct 09, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	87933162	AAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAAAT
137852957	19604	NM_025243.3(SLC19A3):c.130A>G (p.Lys44Glu)	SLC19A3	Apr 23, 2009	MedGen:C1843807,OMIM:607483,Orphanet:ORPHA65284	Basal ganglia disease, biotin-responsive	germline	2	227702189	TTCCTTATCCCATATTTATCTGGACCAGATAAAAACCTGACCAGTGCAGAGGTAAGTTAAC
121908939	21772	NM_006892.3(DNMT3B):c.2450A>G (p.Asp817Gly)	DNMT3B	Nov 11, 1999	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	germline	20	32807791	GGATCTTTGGCTTTCCTGTGCACTACACAGACGTGTCCAACATGGGCCGTGGTGCCCGCCA
387906895	39408	NM_006587.3(CORIN):c.1414A>G (p.Ser472Gly)	CORIN	Mar 21, 2012	MedGen:C3281288,OMIM:614595	Preeclampsia/eclampsia 5	germline	4	47665207	CTCTGCATGAATTTGCCCTACAACAGTACAAGTTATCCAAATTATTTTGGCCACAGGACTC
28928896	29625	NM_000422.2(KRT17):c.274A>G (p.Asn92Asp)	KRT17	Nov 03, 2016	MedGen:C1721007,OMIM:167210;MedGen:CN517202	Pachyonychia congenita 2;not provided	germline	17	41624236	GGAGGTGAGAAGGCCACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGG
121434345	17075	NM_017780.3(CHD7):c.164A>G (p.His55Arg)	CHD7	Oct 01, 2008	MedGen:C2675302,OMIM:612370	Kallmann syndrome 5	germline	8	60741596	AAGGCTTTGCCTCTTTACAGCCATCCCTTCATCATCCTTCAACTAATCAAAATCAAACAAA
1045109000	422252	NM_173483.3(CYP4F22):c.1007-2A>G	CYP4F22	Oct 16, 2015	MedGen:CN517202	not provided	germline	19	15544148	GCCTCCATTCAGATACCCTCATCTCCCTGCAGGTCACGACACAACATCCAGTGGGATCTCT
118203943	15924	NM_000046.3(ARSB):c.629A>G (p.Tyr210Cys)	ARSB	Jul 25, 2013	MedGen:C0026709,OMIM:253200,Orphanet:ORPHA583;MedGen:CN517202	Mucopolysaccharidosis type VI;not provided	germline	5	78964477	AAGAAGTTGCAACAGGATATAAAAATATGTATTCAACAAACATATTCACCAAAAGGGCTAT
104894819	25477	NM_001097642.2(GJB1):c.194A>G (p.Tyr65Cys)	GJB1	Oct 01, 1995	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	X-linked hereditary motor and sensory neuropathy	germline	X	71223901	CACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCG
878853287	237818	NM_000059.3(BRCA2):c.682-2A>G	BRCA2	Apr 15, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32330917	ATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGA
879254032	244423	NM_000038.5(APC):c.1958+3A>G	APC	Oct 14, 2015	MedGen:CN517202	not provided	germline	5	112835168	GCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTTTTAAAGTA
-1	434150	NM_174936.3(PCSK9):c.1402A>G (p.Thr468Ala)	PCSK9	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	1	55058546	AGGACTGTATGGTCAGCACACTCGGGGCCTACACGGATGGCCACAGCCGTCGCCCGCTGCG
73015965	28622	NM_000301.3(PLG):c.112A>G (p.Lys38Glu)	PLG	Jan 27, 2016	MedGen:C1968804,OMIM:217090,Orphanet:ORPHA722	Plasminogen deficiency, type I	germline	6	160706469	ACCCAGGGGGCTTCACTGTTCAGTGTCACTAAGAAGCAGCTGGGAGCAGGAAGTATAGAAG
150857620	263876	NM_030813.5(CLPB):c.1700A>G (p.Tyr567Cys)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72294395	AGTTTCTGGGACGGATCAATGAGATCGTCTACTTCCTCCCCTTCTGCCACTCGGAGCTCAT
267606643	33295	NM_013411.4(AK2):c.494A>G (p.Asp165Gly)	AK2	Jan 01, 2009	MedGen:C0272167,OMIM:267500,Orphanet:ORPHA33355,SNOMED CT:111584000	Reticular dysgenesis	germline	1	33014526	AGTTCAACCCTCCAAAAGAGCCCATGAAAGATGACGTATGTAAACTCAGGACAAAAAATTT
397517202	54634	NM_006218.3(PIK3CA):c.3073A>G (p.Thr1025Ala)	PIK3CA	Aug 10, 2011	Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007	Non-small cell lung cancer	somatic	3	179234230	TCTTTTGATGACATTGCATACATTCGAAAGACCCTAGCCTTAGATAAAACTGAGCAAGAGG
797045031	205724	NM_000069.2(CACNA1S):c.3526-2A>G	CACNA1S	Oct 22, 2014	MedGen:C3714580,OMIM:170400	Hypokalemic periodic paralysis 1	maternal	1	201058493	CCCCCTCGCTTTCCCATCCTTTTCCTTCCCAGGGCTACTTTGGAGACCCCTGGAATGTGTT
267606929	22141	NM_001008211.1(OPTN):c.1433A>G (p.Glu478Gly)	OPTN	May 13, 2010	MedGen:C3150692,OMIM:613435	Amyotrophic lateral sclerosis type 12	germline	10	13132098	TGGAAGTTTACTGTTCTGATTTTCATGCTGAAAGAGCAGCGAGAGAGAAAATTCATGAGGA
121913396	32617	NM_001904.3(CTNNB1):c.95A>G (p.Asp32Gly)	CTNNB1	May 31, 2016	MedGen:C0007112;MedGen:C0278701;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:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;Human Phenotype Ontology:HP:0030434,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:ORPHA91414;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MeSH:D002583,MedGen:CN236667;MedGen:CN517202	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Hepatocellular carcinoma;Malignant melanoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Pilomatrixoma;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms;not provided	somatic	3	41224607	TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCAC
727503774	178384	NM_006306.3(SMC1A):c.2974-2A>G	SMC1A	Dec 02, 2014	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009;MedGen:C1854630,OMIM:605130,Orphanet:ORPHA319182	Congenital muscular hypertrophy-cerebral syndrome;Wiedemann-Steiner syndrome	de novo	X	53383255	CTTCTTGACATTGCTGGGCCTGGGGCTTACAGGATGCCCAGGCTGAGGAAGAGATCAAGCA
878853893	242681	NM_000267.3(NF1):c.4306A>G (p.Lys1436Glu)	NF1	Dec 25, 2015	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31259068	CAGAGTATTGCCAATCATGTTCTCTTCACAAAAGAAGAACATATGCGGCCTTTCAATGATT
121908635	21384	NM_022817.2(PER2):c.1984A>G (p.Ser662Gly)	PER2	Feb 09, 2001	MedGen:C3807327,OMIM:604348	Familial advanced sleep phase syndrome 1	germline	2	238257003	ACCTCGCTGGCACTGCCGGGCAAGGCAGAGAGTGTGGCGTCGCTCACCAGCCAGTGCAGCT
121908838	21570	NM_003722.4(TP63):c.697A>G (p.Lys233Glu)	TP63	Jul 01, 2000	MedGen:C1854442,OMIM:605289	Split-hand/foot malformation 4	germline	3	189864349	GCTGTTATCCGCGCCATGCCTGTCTACAAAAAAGCTGAGCACGTCACGGAGGTGGTGAAGC
34165323	30245	NM_000518.4(HBB):c.199A>G (p.Lys67Glu)	HBB	Apr 27, 1971	MedGen:C0019045,Orphanet:ORPHA68364,SNOMED CT:80141007	Hemoglobinopathy	germline	11	5226693	GGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGG
193922734	362585	NM_032387.4(WNK4):c.1679A>G (p.Glu560Gly)	WNK4	Feb 16, 2017	MedGen:C1840390,OMIM:614491,Orphanet:ORPHA88939	Pseudohypoaldosteronism type 2B	germline	17	42787480	CCCCCAGTGTCTTCCCCCCTGAGCCTGAGGAGCCAGAGGCAGACCAGCACCAGCCCTTCCT
121965002	26991	NM_001918.3(DBT):c.1355A>G (p.His452Arg)	DBT	Apr 23, 2004	MedGen:C4016440	Maple syrup urine disease, thiamine-responsive, type II	germline	1	100196349	AGATAATGAATGTGAGCTGGTCAGCTGATCACAGAGTTATTGATGGTGCTACAATGTCACG
879254278	244556	NM_000399.4(EGR2):c.1151A>G (p.His384Arg)	EGR2	Aug 04, 2016	MedGen:CN517202	not provided	germline	10	62813487	TCTGCATGCGCAACTTCAGCCGCAGTGACCACCTCACCACCCATATCCGCACCCACACCGG
-1	432160	NM_000444.5(PHEX):c.1483-2A>G	PHEX	Nov 06, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22178271	AGAACAATGATGTTGTGGTTTGTTTTATTCAGATCAAGTTTTCAGAAGCCGACTACTTTGG
1060502838	395634	NM_002047.3(GARS):c.1415A>G (p.His472Arg)	GARS	Jun 26, 2017	MedGen:CN043576	Charcot-Marie-Tooth disease, type 2	germline	7	30621448	CTGATCGTTCCTGTTATGACCTCTCCTGTCATGCACGAGCCACCAAAGTCCCACTTGTAGC
398123750	100130	NM_003482.3(KMT2D):c.5645-2A>G	KMT2D	May 28, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49042880	CTTCCTCAACAGTGTCCTTCATTCCCCCACAGAACTGCCCAAGATGGAATCCAAGGACCTG
121918089	28489	NM_000371.3(TTR):c.379A>G (p.Ile127Val)	TTR	Mar 01, 2017	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008;MedGen:CN169374	Amyloidogenic transthyretin amyloidosis;not specified	germline	18	31598610	GCCAACGACTCCGGCCCCCGCCGCTACACCATTGCCGCCCTGCTGAGCCCCTACTCCTATT
869312848	226617	NM_177559.2(CSNK2A1):c.524A>G (p.Asp175Gly)	CSNK2A1	Aug 05, 2016	MedGen:C4310739,OMIM:617062	Okur-chung neurodevelopmental syndrome	germline	20	492351	GGTTTATTCTTTTTCAGCTACGACTAATAGACTGGGGTTTGGCTGAGTTTTATCATCCTGG
63751598	95883	NM_000249.3(MLH1):c.883A>G (p.Ser295Gly)	MLH1	Mar 14, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37017598	CCCAAAAACACACACCCATTCCTGTACCTCAGGTAATGTAGCACCAAACTCCTCAACCAAG
397514517	48111	NM_000344.3(SMN1):c.389A>G (p.Tyr130Cys)	SMN1	Feb 21, 2012	MedGen:C0152109,OMIM:253400,Orphanet:ORPHA83419,SNOMED CT:54280009	Kugelberg-Welander disease	germline	5	70942473	GAGAAACCTGTGTTGTGGTTTACACTGGATATGGAAATAGAGAGGAGCAAAATCTGTCCGA
121918209	16102	NM_018122.4(DARS2):c.133A>G (p.Ser45Gly)	DARS2	Apr 01, 2007	MedGen:C1970180,OMIM:611105,Orphanet:ORPHA137898	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	germline	1	173826692	TTTCTTTTTTTTTTTTTTTTTAAAGAATTCAGTAGCTTTGTTGTCCGGACCAACACATGTG
1064796510	405215	NM_003035.2(STIL):c.2827-2A>G	STIL	Feb 20, 2017	MedGen:CN517202	not provided	germline	1	47260541	TTTTTCAAAAAAATTTTTTTTCTTTTTGTCAGGGTCAAGTAAACCACCTATTAAATAGTTC
886043616	271521	NM_144612.6(LOXHD1):c.4376-2A>G	LOXHD1	May 26, 2016	MedGen:C2746083,OMIM:613079	Deafness, autosomal recessive 77	germline	18	46529333	TTGTCTGTCTGTCTGTCCCACCACCTGCCCAGTTGTGCTGTACTCGGTGCAGATCTTCACA
1057519612	38686	NM_000834.3(GRIN2B):c.2360-2A>G	GRIN2B	Nov 01, 2010	MedGen:C3151411,OMIM:613970	Mental retardation, autosomal dominant 6	germline	12	13567265	TTATCCATTTTCCTTCTCTGTCCTTTCCCCAGGGGAGATGGAAGAACTGGAAGCTCTCTGG
267606894	24738	m.12770A>G	MT-ND5	Jan 01, 2003	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	germline	MT	12770	ACAACCTATTCCAACTGTTCATCGGCTGAGAGGGCGTAGGAATTATATCCTTCTTGCTCAT
121917823	32017	NM_021954.3(GJA3):c.188A>G (p.Asn63Ser)	GJA3	May 01, 1999	MedGen:C1866078,OMIM:601885	Zonular pulverulent cataract 3	germline	13	20143101	CCTGCAACACCCAGCAGCCGGGCTGCGAGAACGTCTGCTACGACAGGGCCTTCCCCATCTC
121912674	33363	NM_005159.4(ACTC1):c.1088A>G (p.Glu363Gly)	ACTC1	May 01, 1998	MedGen:C3150681,OMIM:613424	Dilated cardiomyopathy 1R	germline	15	34790458	CCTTCCAGCAAATGTGGATTAGCAAGCAAGAGTACGATGAGGCAGGCCCATCCATTGTCCA
587777757	20714	NM_014946.3(SPAST):c.1216A>G (p.Ile406Val)	SPAST	Jun 06, 2017	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985;MedGen:CN517202	Spastic paraplegia 4, autosomal dominant;not provided	germline	2	32128450	GCTGCAGAATCGAATGCAACCTTCTTTAATATAAGTGCTGCAAGTTTAACTTCAAAATACG
80358096	131264	NM_007294.3(BRCA1):c.4676-2A>G	BRCA1	Feb 03, 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	43071240	TGTGTAAATTAAACTTCTCCCATTCCTTTCAGAGGGAACCCCTTACCTGGAATCTGGAATC
1085307141	413946	NM_003380.3(VIM):c.623A>G (p.Gln208Arg)	VIM	May 10, 2017	MedGen:C3805411,OMIM:116300	Cataract 30	germline	10	17230709	AAGCCGAAAACACCCTGCAATCTTTCAGACAGGTTTGTAGACTCTCTTCCCACTCGCAGCC
483352906	39386	NM_001199397.1(NEK1):c.869-2A>G	NEK1	Jan 07, 2011	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	Short rib-polydactyly syndrome, Majewski type	germline	4	169577081	GCAGACAAAATTCTTTGTATCTTTTCATCTAGCTAAAAGACCAGCTTCAGGACAAAACTCG
121918678	27657	NM_001063.3(TF):c.1936A>G (p.Lys646Glu)	TF	May 01, 1998	na	Transferrin variant bv	germline	3	133777112	GGCAACTTTTGTTTGTTCCGGTCGGAAACCAAGGACCTTCTGTTCAGAGATGACACAGTAT
137853203	33304	NM_000476.2(AK1):c.491A>G (p.Tyr164Cys)	AK1	Dec 01, 1997	MedGen:C2675459,OMIM:612631,Orphanet:ORPHA86817	Adenylate kinase deficiency, hemolytic anemia due to	germline	9	127868346	ACAAGGCCACAGAACCTGTCATCGCCTTCTATGAGAAACGTGGCATTGTGCGCAAGGTGGG
80358065	131105	NM_007294.3(BRCA1):c.135-2A>G	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	17	43106535	TAAATTGTTCTTTCTTTCTTTATAATTTATAGATTTTGCATGCTGAAACTTCTCAACCAGA
67993095	103244	NM_000531.5(OTC):c.905A>G (p.His302Arg)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411899	AAGTTGCTGCCTCTGACTGGACATTTTTACACTGCTTGCCCAGAAAGCCAGAAGAAGTGGA
1064793921	407785	NM_000264.4(PTCH1):c.1603-2A>G	PTCH1	Jul 04, 2017	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002;MedGen:CN517202	Gorlin syndrome;not provided	germline	9	95476161	CAGCTCTCAGCGCTGTGTTTTTTTATTCCCAGGACAGGACCGGGGAGTGCCTGAAGCGCAC
28940313	17085	NM_152443.2(RDH12):c.677A>G (p.Tyr226Cys)	RDH12	Oct 01, 2004	MedGen:C2675186,OMIM:612712	Leber congenital amaurosis 13	germline	14	67729209	TCTTTGTCCCAGGCACCGGGGTCACCACCTACGCAGTGCACCCAGGCGTCGTCCGCTCTGA
137853262	25899	NM_000276.3(OCRL):c.1436A>G (p.Tyr479Cys)	OCRL	Feb 01, 2005	MedGen:C1845167,OMIM:300555,Orphanet:ORPHA93623	Dent disease 2	germline	X	129567333	GGGAAATCAAGTTCATCCCCACTTATAAGTATGACTCTAAAACAGACCGGTGGGATTCCAG
869312849	426344	NM_001895.3(CSNK2A1):c.149A>G (p.Tyr50Cys)	CSNK2A1	Jun 13, 2017	MedGen:CN517202	not provided	germline	20	505182	AGCTGGTTCGAAAATTAGGCCGAGGTAAATACAGTGAAGTATTTGAAGCCATCAACATCAC
199473311	78872	NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val)	SCN5A	Mar 22, 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	38551070	ATCTCCTTCCTCATCGTGGTCAACATGTACATTGCCATCATCCTGGAGAACTTCAGCGTGG
199472956	78209	NM_000238.3(KCNH2):c.1885A>G (p.Asn629Asp)	KCNH2	Apr 09, 2015	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150951508	TTCAGCAGCCTCACCAGTGTGGGCTTCGGCAACGTCTCTCCCAACACCAACTCAGAGAAGA
121918381	32941	NM_000040.2(APOC3):c.280A>G (p.Thr94Ala)	APOC3	Dec 01, 1987	na	Apolipoprotein c-iii, nonglycosylated	germline	11	116832864	TTCTGGGATTTGGACCCTGAGGTCAGACCAACTTCAGCCGTGGCTGCCTGAGACCTCAATA
58597584	18041	NM_000226.3(KRT9):c.469A>G (p.Met157Val)	KRT9	Jun 13, 2017	Human Phenotype Ontology:HP:0007559,MedGen:C1721006,OMIM:144200,Orphanet:ORPHA2199;MedGen:CN517202	Epidermolytic palmoplantar keratoderma;not provided	germline	17	41571524	GGTATTCTGACTGCTAATGAGAAGAGCACCATGCAGGAACTCAATTCTCGGCTGGCCTCTT
200024253	165956	NM_178517.4(PIGW):c.499A>G (p.Met167Val)	PIGW	Mar 01, 2014	MedGen:C4014958,OMIM:616025	Hyperphosphatasia with mental retardation syndrome 5	germline	17	36537600	GCCAAAACTGAGCTCTATGGGACAGGAGCAATGGATTTTGGAGTAGGTGGCTTTGTTTTTG
150736997	48203	NM_014254.2(RXYLT1):c.1016A>G (p.Tyr339Cys)	RXYLT1	Jan 30, 2013	MedGen:C3554381,OMIM:615041	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	germline	12	63808776	TGTGCCCGGTCGGAGTAAACACAGAATGCTATCGAATCTATGAGGCTTGCTCCTATGGCTC
1114167580	419617	NM_000038.5(APC):c.1957A>G (p.Arg653Gly)	APC	Oct 12, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112835164	TCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTTTTAA
121909238	22887	NM_000314.6(PTEN):c.278A>G (p.His93Arg)	PTEN	Apr 01, 2005	MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548	Macrocephaly/autism syndrome	germline	10	87933037	CCACAGTTGCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACC
11568372	21629	NM_003742.2(ABCB11):c.890A>G (p.Glu297Gly)	ABCB11	Oct 29, 2016	MedGen:C2608083,OMIM:605479,Orphanet:ORPHA99961;MedGen:CN239338;MedGen:C1866138,OMIM:601847	Benign recurrent intrahepatic cholestasis 2;Familial Intrahepatic Cholestasis;Progressive familial intrahepatic cholestasis 2	germline	2	168990819	CAATGAGAACAGTGGCTGCTTTTGGTGGTGAGAAAAGAGAGGTTGAAAGGTTGGTTAATTG
863225229	214275	NM_153704.5(TMEM67):c.730A>G (p.Thr244Ala)	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93780608	ATTGTTCTGTTGTAGGTATATGCCAATCTAACATCTTGTCAAGCTCTTGGAAATATGTGTG
199474760	79197	NM_001042492.2(NF1):c.1748A>G (p.Lys583Arg)	NF1	May 10, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31223470	GCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATCAAATGCTTAGTAG
373842615	172175	NM_000118.3(ENG):c.1273-2A>G	ENG	Mar 08, 2017	MedGen:CN221549;MedGen:CN517202;MedGen:CN169374	Haemorrhagic telangiectasia 1;not provided;not specified	germline	9	127819662	CTCTGACCAGCTCCCTGGCTTTATCCCCGCAGGCGGTGGTCAATATCCTGTCGAGCTCATC
777313457	263879	NM_030813.5(CLPB):c.815A>G (p.Tyr272Cys)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72358930	CCAGTTTCAAGGGCTGCACGGCCTTGCACTATGCTGTTCTTGCTGATGACTACCGCACTGT
878853224	237611	NM_005422.2(TECTA):c.6017A>G (p.Asp2006Gly)	TECTA	Feb 16, 2016	MedGen:C1832187,OMIM:601543	Deafness, autosomal dominant 12	germline	11	121187849	TTTTTCTGAATAGGTGTCAGAACCTCAAAGATAACACCATTGGCATCGAGGAGAATGCAGT
794727575	194058	NM_004006.2(DMD):c.4675-2A>G	DMD	Aug 08, 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	32380682	ACTAAATTACATTTCATTATAATTCTTTTCAGGTAACAGAAAGAAAGCAACAGTTGGAGAA
397517452	55614	NM_033056.3(PCDH15):c.1998-2A>G	PCDH15	Apr 30, 2012	MedGen:C1865885,OMIM:602083	Usher syndrome, type 1F	germline	10	54079426	TTGTCTTATTTGTTTGTTTGTTTTGTCACTAGCACGGGGATTCTAACCTTAGGGAAAGCAC
137852389	25211	NM_000132.3(F8):c.398A>G (p.Tyr133Cys)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154993139	TTTTATTTCTTCCTGCTATAGGAGCTGAATATGATGATCAGACCAGTCAAAGGGAGAAAGA
794728814	196516	NM_001035.2(RYR2):c.568A>G (p.Arg190Gly)	RYR2	Jul 22, 2011	MedGen:CN517202	not provided	germline	1	237377427	GACCTCATCTTAGTTAGCGTGTCCTCTGAAAGGTACTTGGTAAGTGTGGAAAGTAGGATCA
138439950	47581	NM_004614.4(TK2):c.173A>G (p.Asn58Ser)	TK2	Aug 28, 2017	MedGen:C3149750,OMIM:609560;MedGen:CN517202	Mitochondrial DNA depletion syndrome 2;not provided	germline	16	66541937	TCGTCTTTTGCCAGATCTGTGTCGAGGGCAATATTGCAAGTGGGAAGACGACATGCCTGGA
-1	487823	NM_014297.4(ETHE1):c.406A>G (p.Thr136Ala)	ETHE1	Jun 23, 2017	MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188	Ethylmalonic encephalopathy	germline	19	43511536	GCGTTGGAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATG
128627255	26318	NM_004006.2(DMD):c.835A>G (p.Thr279Ala)	DMD	May 20, 1997	MedGen:C3668940,OMIM:302045	Dilated cardiomyopathy 3B	germline	X	32697995	TCCACTCCCCCAAACCCTTCTCTGCAGATCACGGTCAGTCTAGCACAGGGATATGAGAGAA
587776819	29751	NM_000208.3(INSR):c.1124-2A>G	INSR	Feb 01, 1998	MedGen:C0271695,OMIM:262190,Orphanet:ORPHA769,SNOMED CT:33559001	Pineal hyperplasia AND diabetes mellitus syndrome	germline	19	7172436	GAAACCCACTGGATATTCTCTCCTTTCCTTAGACAATCTGGCAGCTGAGCTAGAAGCCAAC
121908466	20872	NM_005682.6(ADGRG1):c.263A>G (p.Tyr88Cys)	ADGRG1	Mar 26, 2004	MedGen:C1847352,OMIM:606854,Orphanet:ORPHA101070	Polymicrogyria, bilateral frontoparietal	germline	16	57651398	CCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGC
879255533	65570	NM_032208.2(ANTXR1):c.1435-12A>G	ANTXR1	May 02, 2013	MedGen:C0406723,OMIM:230740,Orphanet:ORPHA2067,SNOMED CT:239028001	Odontotrichomelic syndrome	germline	2	69245213	AGGCCGTCCGCTCACGTTTCCTTCTCTCCAATTCTTTTCTAGGGGCGCTGCATCAACTTCA
1057518677	361160	NM_000016.5(ACADM):c.287-2A>G	ACADM	Feb 06, 2015	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline;maternal	1	75733526	TTACAATGTGTTGAAACATTTTGATACTGTAGGAGGTCTTGGACTTGGAACTTTTGATGCT
587777204	107249	NM_014740.3(EIF4A3):c.809A>G (p.Asp270Gly)	EIF4A3	Mar 10, 2014	MedGen:C1849348,OMIM:268305,Orphanet:ORPHA3102	Richieri Costa Pereira syndrome	germline	17	80138200	GGGAAGAGTGGAAATTTGACACTCTGTGTGACCTCTACGACACACTGACCATCACTCAGGC
863224237	211318	NM_022445.3(TPK1):c.44-2A>G	TPK1	Dec 26, 2013	MedGen:CN517202	not provided	germline	7	144765953	TGTATTTTATTTTGCTTTCTTTTTTTCTCTAGGGAATTTGAAGTACTGCCTTGTAATTCTT
104886416	35618	NM_000495.4(COL4A5):c.466-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108573572	GTCTTAGAACTTCCATTGATGGCTTCTTTTAGGGTGAACCAGGTAGTATAATTATGTCATC
587776878	39256	NM_004656.3(BAP1):c.2057-2A>G	BAP1	Aug 28, 2011	MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539	Tumor susceptibility linked to germline BAP1 mutations	unknown	3	52402423	GCACCTGCTCAAGGGTCTCTACCTCTTCGCAGGCATGCTGGCCAACCTAGTGGAGCAGAAC
797044748	194800	NM_000169.2(GLA):c.801+3A>G	GLA	Aug 12, 2014	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398782	ACCAGGGGGTTGGAATGACCCAGATATGGTAAAAACTTGAGCCCTCCTTGTTCAAGACCCT
137854543	15419	NM_000308.3(CTSA):c.1238A>G (p.Tyr413Cys)	CTSA	Jun 01, 1993	MedGen:C0268233,OMIM:256540,Orphanet:ORPHA351,SNOMED CT:35691006	Combined deficiency of sialidase AND beta galactosidase	germline	20	45897736	TCCTGCTTTAGAAATACCAGATCCTATTATATAATGGAGATGTAGACATGGCCTGCAATTT
574034197	242537	NM_000135.2(FANCA):c.3391A>G (p.Thr1131Ala)	FANCA	Jul 15, 2017	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002;MedGen:CN517202	Fanconi anemia;not provided	germline	16	89746848	TCCCACGGAGGTGCCCTGACACAGGACATCACTGCCCACTTCTTCAGGGTGAGATGCTCCC
-1	481869	NM_016628.4(WAC):c.382-2A>G	WAC	Nov 01, 2017	MedGen:CN517202	not provided	germline	10	28589734	CATTTTCTAATTGTAAAAAATATATTTTTAAGCCTTATGATTCTGCAGATGACTGGTCTGA
144972972	171703	NM_017909.3(RMND1):c.713A>G (p.Asn238Ser)	RMND1	Oct 26, 2017	MedGen:C3554067,OMIM:614922,Orphanet:ORPHA324535;MedGen:C3554067,OMIM:614922,Orphanet:ORPHA324535;MedGen:C0751651,Orphanet:ORPHA68380;MedGen:CN517202	Combined oxidative phosphorylation deficiency 11;Combined oxidative phosphorylation deficiency 11;Mitochondrial diseases;not provided	germline	6	151430154	AAATCAGGGAAGGAGCTGCTGTGTTTTGGAATGTGAAAGACAAAACTGTAAGTGTAAATAA
387907021	39773	NM_031427.3(DNAL1):c.449A>G (p.Asn150Ser)	DNAL1	Sep 03, 2015	MedGen:C3151460,OMIM:614017;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia, primary, 16;Kartagener syndrome	germline	14	73689432	CATGCCTCGAAGACCTGGTGTTTGTAGGCAATCCCTTGGAAGAGAAACATTCTGCTGAGAA
386134157	51340	NM_002739.4(PRKCG):c.76A>G (p.Arg26Gly)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	not provided	19	53882570	CGGCCCCTGTTTTGCAGAAAGGGGGCCCTGAGGCAGAAGGTGGTCCACGAAGTCAAGAGCC
-1	413182	NM_020843.2(SCAPER):c.2023-2A>G	SCAPER	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	inherited	15	76728739	CTAATATTGGAAACAAATATTTCTAACATTAGGAACGCAAGAGAGCTCTAGAGGCAGAGCG
137852230	25615	NM_000133.3(F9):c.278A>G (p.Asp93Gly)	F9	Jun 25, 1990	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139541076	GCCAATTCAATTTCTTAACCTATCTCAAAGATGGAGATCAGTGTGAGTCCAATCCATGTTT
121909375	23653	NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala)	MYBPC3	Jan 29, 2002	MedGen:C1861862,OMIM:115197	Familial hypertrophic cardiomyopathy 4	germline	11	47351356	ATCAGCGCCAGCAACAAGTACGGCCTGGCCACAGAGGGCACACGGCATACGCTGACAGTGC
587782994	166185	NM_005859.4(PURA):c.289A>G (p.Lys97Glu)	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	140114470	AAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCATGTCAGTGG
587777088	102939	NM_014754.2(PTDSS1):c.1058A>G (p.Gln353Arg)	PTDSS1	Jan 01, 2014	MedGen:C0432269,OMIM:151050,Orphanet:ORPHA2658,SNOMED CT:1393001	Lenz-Majewski hyperostosis syndrome	germline	8	96309607	CCGACACACAGTGCAAGCGCGTAGGAACACAATGCTGGGTGTTTGGGTGAGTAATCTGTTA
515726175	136312	NM_000098.2(CPT2):c.983A>G (p.Asp328Gly)	CPT2	May 15, 2014	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005	Carnitine palmitoyltransferase II deficiency	germline	1	53210657	TGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTT
387906374	22238	NM_000492.3(CFTR):c.273+4A>G	CFTR	May 15, 1994	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117509146	TTCTATGGAATCTTTTTATATTTAGGGGTAAGGATCTCATTTGTACATTCATTATGTATCA
587778888	95122	NM_000249.3(MLH1):c.113A>G (p.Asn38Ser)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	36993660	CAGCTAATGCTATCAAAGAGATGATTGAGAACTGGTACGGAGGGAGTCGAGCCGGGCTCAC
606231328	136670	NM_000257.3(MYH7):c.1952A>G (p.His651Arg)	MYH7	-	MedGen:C0264789,SNOMED CT:35728003	Familial cardiomyopathy	not provided	14	23427244	GCTCGTCCTTTCAGACTGTGTCAGCTCTGCACAGGGTGAGTGGGACACAGCCCCAGCCAAC
863225462	214836	NM_000342.3(SLC4A1):c.2201A>G (p.His734Arg)	SLC4A1	Nov 01, 2005	MedGen:C1861453,OMIM:185020,Orphanet:ORPHA398088	Pseudohyperkalemia Cardiff	germline	17	44253228	TCAGTGCCACCACCGTGCGTTCCGTCACCCATGCCAACGCCCTCACTGTCATGGGCAAAGC
794728538	197505	NM_000218.2(KCNQ1):c.1787A>G (p.Glu596Gly)	KCNQ1	Apr 12, 2014	MedGen:CN517202	not provided	germline	11	2778030	ACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGGCCTGCG
397509387	59800	NM_006463.5(STAMBP):c.125A>G (p.Glu42Gly)	STAMBP	Apr 19, 2017	MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016	Microcephaly-capillary malformation syndrome	germline	2	73830981	CACCCCGTCGGTACTTCCGCTCTGGAGTTGAGATTATCCGAATGGCATCCATTTACTCTGA
-1	440000	NM_172341.3(PSENEN):c.167-2A>G	PSENEN	Dec 01, 2017	MedGen:C3151037,OMIM:613736	Acne inversa, familial, 2	germline	19	35746706	CCAACCCTTCCAGCTTCTGTTTCCCATGACAGATGTCTGGCGCTCAGCTGTGGGCTTCCTC
886039555	260271	NM_000061.2(BTK):c.1632-2A>G	BTK	Mar 31, 2016	MedGen:CN517202	not provided	germline	X	101353990	TCCTAATGCAACAAGTCCTGAATCCCTTGCAGGTATGTCCTGGATGATGAATACACAAGCT
-1	481332	NM_018238.3(AGK):c.298-2A>G	AGK	Sep 08, 2017	MedGen:C1859317,OMIM:212350,Orphanet:ORPHA1369	Cataract and cardiomyopathy	germline	7	141611193	TAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACT
118203905	15682	NM_000130.4(F5):c.1000A>G (p.Arg334Gly)	F5	Oct 01, 1998	MedGen:CN068435	Factor V Hong Kong	germline	1	169555300	ATTGACATTAAAAACTGCCCAAAGAAAACCAGGAATCTTAAGAAAATAACTCGTGAGCAGA
797044909	205332	NM_001017980.3(VMA21):c.163+4A>G	VMA21	Aug 29, 2014	MeSH:D030342,MedGen:C0950123;MedGen:C1839615,OMIM:310440,Orphanet:ORPHA25980	Inborn genetic diseases;Myopathy, X-linked, with excessive autophagy	germline	X	151403744	TCACAACTAAATCTTACATATTTGAAGGTAATCTTAGACCCATTAAAACAAGATGTTTTCC
121908494	20802	NM_004211.4(SLC6A5):c.1472A>G (p.Tyr491Cys)	SLC6A5	Oct 04, 2012	MedGen:C3553288,OMIM:614618	Hyperekplexia 3	germline	11	20628056	CATGGGGAGGCCTGATCACTCTCTCTTCTTACAACAAATTCCACAACAACTGCTACAGGTA
797044603	190041	NM_018965.3(TREM2):c.113A>G (p.Tyr38Cys)	TREM2	Mar 12, 2015	MedGen:C1857316,OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	germline	6	41161541	CGGGCCAGTCCCTGCAGGTGTCTTGCCCCTATGACTCCATGAAGCACTGGGGGAGGCGCAA
398122979	97323	NM_024876.3(COQ8B):c.857A>G (p.Asp286Gly)	COQ8B	Jun 07, 2016	MedGen:C3809965,OMIM:615573	Nephrotic syndrome, type 9	germline	19	40702636	CCTTGCAGCAGGAGCTGGCTTGGGAGTGTGACTACCGTCGTGAGGCGGCTTGTGCCCAGAA
864309717	215753	NM_001143826.2(MAPRE2):c.131A>G (p.Tyr44Cys)	MAPRE2	Dec 03, 2015	MedGen:C4225225,OMIM:616734	Skin creases, congenital symmetric circumferential, 2	germline	18	35097455	ACTGTTCTTGTTTCTTTCCAGGAGCGGCCTATTGCCAATTCATGGACATGCTCTTCCCTGG
376395543	51814	NM_000256.3(MYBPC3):c.26-2A>G	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	47351507	GGGGCCGCTGTAGCCTCCACCTGGCCCTTCAGTCTCAGCTTTTAGCAAGAAGCCACGGTCA
104893993	24343	NM_001024630.3(RUNX2):c.598A>G (p.Thr200Ala)	RUNX2	Aug 29, 2013	MedGen:C0008928,OMIM:119600,Orphanet:ORPHA1452,SNOMED CT:65976001;MedGen:C1838416	Cleidocranial dysostosis;Cleidocranial dysplasia, forme fruste, dental anomalies only	germline	6	45437964	TTTATATCTGCAGGCAAGAGTTTCACCTTGACCATAACCGTCTTCACAAATCCTCCCCAAG
201736037	98316	NM_000070.2(CAPN3):c.1435A>G (p.Ser479Gly)	CAPN3	Jun 14, 2016	MedGen:CN239245;MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	CAPN3-Related Disorders;Limb-girdle muscular dystrophy, type 2A	germline	15	42401721	GATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACC
797045012	205012	NM_006772.2(SYNGAP1):c.388-2A>G	SYNGAP1	Jun 09, 2014	MedGen:C2675473,OMIM:612621	Mental retardation, autosomal dominant 5	de novo	6	33432683	CCCAACCCACCCCATCCCCATTTCCCCCCCAGCAAGGCTTCCTGAGCCGACGGCTAAAAAG
587777521	143253	NM_004817.3(TJP2):c.1992-2A>G	TJP2	Oct 22, 2014	MedGen:C2931067,OMIM:615878	Progressive familial intrahepatic cholestasis 4	germline	9	69236947	TTAGAGATTTACTTCCCGTGGTTTCTTCTCAGAGCTGAACAAATGGCCAGTGTTCAAAATG
141524540	79572	NM_000448.2(RAG1):c.1303A>G (p.Met435Val)	RAG1	May 26, 2017	MedGen:CN517202	not provided	germline	11	36574607	GAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGA
74518351	102999	NM_000531.5(OTC):c.122A>G (p.Asp41Gly)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367335	TACAAAATAAAGTGCAGCTGAAGGGCCGTGACCTTCTCACTCTAAAAAACTTTACCGGAGA
794726722	187714	NM_001165963.1(SCN1A):c.5264A>G (p.Asp1755Gly)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	165992011	AAGTTAACCCTGGAAGCTCAGTTAAGGGAGACTGTGGGAACCCATCTGTTGGAATTTTCTT
180177040	29018	NM_004333.4(BRAF):c.1741A>G (p.Asn581Asp)	BRAF	Aug 23, 2017	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MedGen:CN029449,OMIM:115150,SNOMED CT:403770008;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 1;Rasopathy;not provided	germline	7	140754187	TCAATCATCCACAGAGACCTCAAGAGTAATAGTATCCTTCCTGAAATTTGTCTGCGAAGTT
1060499536	227005	NM_000440.2(PDE6A):c.1408-2A>G	PDE6A	Apr 07, 2016	MedGen:C3151139,OMIM:613810	Retinitis pigmentosa 43	germline	5	149896778	TTTTTTTCCCCTGCCATTTTGGGTCCTGGCAGAAAACCAGAGAGGTGTATGGGAAGGAGCC
398124091	100737	NM_004006.2(DMD):c.9225-647A>G	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	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31261663	AGACAGCTGTGAATGCTTCATTCAGGCCCAAGTAAATATAGGAAGAGGTGTAGTGGTGTAT
886041388	263967	NM_020699.3(GATAD2B):c.1217-2A>G	GATAD2B	Aug 22, 2016	MedGen:CN517202	not provided	germline	1	153813454	TAAAGCCACTGACTATTTTTGTTGGTATCTAGGCAAAAGCTGTGCCTCACTTCTGCGGGTT
1057520784	372914	NM_003070.4(SMARCA2):c.3446A>G (p.Asn1149Ser)	SMARCA2	Jan 20, 2016	MedGen:CN517202	not provided	germline	9	2110407	ATACAGTGGTCATCTTTGACAGCGACTGGAATCCTCATCAGGTCTGCATGTCCCACTCAGG
121908595	28390	NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys)	MAP2K1	Aug 01, 2017	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MedGen:C3809006,OMIM:615279;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 3;Rasopathy;not provided	germline;unknown	15	66436843	AGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAG
730881359	180376	NM_000051.3(ATM):c.1A>G (p.Met1Val)	ATM	Nov 29, 2016	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005	Ataxia-telangiectasia syndrome	germline;unknown	11	108227625	ACAGTGATGTGTGTTCTGAAATTGTGAACCATGAGTCTAGTACTTAATGATCTGCTTATCT
886041317	264157	NM_015560.2(OPA1):c.985-2A>G	OPA1	Oct 05, 2016	MedGen:C1852267,OMIM:125250,Orphanet:ORPHA1215;MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009;MedGen:CN517202	Autosomal dominant optic atrophy plus syndrome;Dominant hereditary optic atrophy;not provided	germline	3	193642763	ATCATTACCTCTCAGTTTTCTGTTACTATCAGGTGACTCTGAGTGAAGGTCCTCACCATGT
273585649	49404	NM_000084.4(CLCN5):c.1637A>G (p.Lys546Arg)	CLCN5	Aug 09, 2012	MedGen:C1848336,OMIM:300009	Dent disease 1	not provided	X	50090218	TGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGG
-1	446667	NM_000240.3(MAOA):c.1263-2A>G	MAOA	Aug 10, 2017	MedGen:CN517202	not provided	germline	X	43743792	TAACTCTGTGTAACCTCTTGGTTCCCTTGAAGGGTGATTCGTCAACCCGTGGGCAGGATTT
121909533	33216	NM_000034.3(ALDOA):c.386A>G (p.Asp129Gly)	ALDOA	Dec 01, 1987	MedGen:C0272066,OMIM:611881,Orphanet:ORPHA57,SNOMED CT:111578003	HNSHA due to aldolase A deficiency	germline	16	30068824	TCTGACCCCTTCCTCTTCTCTTAGGGTTGGATGGGCTGTCTGAGCGCTGTGCCCAGTACAA
387907308	45864	NM_020921.3(NIN):c.5126A>G (p.Asn1709Ser)	NIN	Nov 01, 2012	MedGen:C3553870,OMIM:614851,Orphanet:ORPHA319675	Seckel syndrome 7	germline	14	50744304	AGCAAAAAATCTCTAGTGTTCTAAGCTACAACGAAAAACTGCTGAAAGAAAAGGAAGCTCT
-1	440793	NM_018075.4(ANO10):c.473-2A>G	ANO10	Apr 06, 2017	MedGen:CN517202	not provided	germline	3	43580474	TTCATGCAGTTTGGCACATTTTCCCTGTGCAGTGAGAAGATTGCTCACGTCTGGCATCGTG
61434181	29617	NM_000421.3(KRT10):c.1315A>G (p.Lys439Glu)	KRT10	Apr 01, 1994	Human Phenotype Ontology:HP:0007475,MedGen:C0079153,OMIM:113800,Orphanet:ORPHA312,SNOMED CT:254167000;MedGen:CN517202	Bullous ichthyosiform erythroderma;not provided	germline	17	40819575	AATACTGAATACCAACAACTCCTGGATATTAAGATCCGACTGGAGAATGAAATTCAAACCT
199476120	24765	m.3397A>G	MT-ND1	Jul 18, 1995	Human Phenotype Ontology:HP:0002511,MedGen:C0002395,OMIM:104300,SNOMED CT:26929004;MedGen:C3160718,OMIM:168600,SNOMED CT:49049000	Alzheimer's disease;Parkinson disease, late-onset	germline	MT	3397	ATGCTTACCGAACGAAAAATTCTAGGCTATATACAACTACGCAAAGGCCCCAACGTTGTAG
886040886	262126	NM_015247.2(CYLD):c.2242-2A>G	CYLD	Sep 23, 2016	MedGen:C1851526,OMIM:132700	Cylindromatosis, familial	germline	16	50792595	TTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCC
1057519523	362319	NM_021007.2(SCN2A):c.3967A>G (p.Met1323Val)	SCN2A	Nov 16, 2016	MedGen:CN240507	Malignant migrating partial seizures of infancy	de novo	2	165373342	CCACTGAGAGCTTTGTCCCGGTTTGAAGGAATGAGGGTAAGACTGAATGCCTTAGAGTTTG
128624216	26336	NM_000033.3(ABCD1):c.443A>G (p.Asn148Ser)	ABCD1	Oct 01, 1994	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153725709	TCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACT
72466451	32597	NM_199440.1(HSPD1):c.86A>G (p.Asp29Gly)	HSPD1	Jul 01, 2008	MedGen:C2677109,OMIM:612233,Orphanet:ORPHA280288	Leukodystrophy, hypomyelinating, 4	germline	2	197498763	CTCCTCATCTCACTCGGGCTTATGCCAAAGATGTAAAATTTGGTGCAGATGCCCGAGCCTT
879192165	262350	NC_012920.1:m.14692A>G	MT-TE	Oct 25, 2016	MedGen:C0342289,OMIM:520000,Orphanet:ORPHA225,SNOMED CT:237619009	Diabetes-deafness syndrome maternally transmitted	germline	MT	14692	AGCATACATCATTATTCTCGCACGGACTACAACCACGACCAATGATATGAAAAACCATCGT
121434463	24626	m.12320A>G	MT-TL2	Feb 01, 1997	Human Phenotype Ontology:HP:0003737,MedGen:C0162670,OMIM:251900,Orphanet:ORPHA206966	Mitochondrial myopathy	germline	MT	12320	ATTGGTCTTAGGCCCCAAAAATTTTGGTGCAACTCCAAATAAAAGTAATAACCATGCACAC
28933092	29523	NM_170707.3(LMNA):c.608A>G (p.Glu203Gly)	LMNA	Aug 21, 2015	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	156134497	CTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGA
28935495	25813	NM_000169.2(GLA):c.815A>G (p.Asn272Ser)	GLA	Aug 01, 2004	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398554	TTCATTCTTTTTCTCAGTTAGTGATTGGCAACTTTGGCCTCAGCTGGAATCAGCAAGTAAC
-1	443193	NM_004369.3(COL6A3):c.6309+3A>G	COL6A3	Jun 02, 2016	MedGen:CN517202	not provided	germline	2	237359359	GGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAATGGAA
121918333	17147	NM_015335.4(MED13L):c.6068A>G (p.Asp2023Gly)	MED13L	Dec 09, 2003	MedGen:C1837341,OMIM:608808	Transposition of the great arteries, dextro-looped 1	germline	12	115969097	TTTGTGCTTTTTTTCCCCCCTTCCCTCTAGATGATATGTTTGTTGACCTTCCATTCCCAGA
121918692	27590	NM_001128177.1(THRB):c.1327A>G (p.Lys443Glu)	THRB	May 01, 1994	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24122943	GCCTGCCATGCCAGCCGCTTCCTGCACATGAAGGTGGAATGCCCCACAGAACTCTTCCCCC
-1	427726	NM_000081.3(LYST):c.8802-2A>G	LYST	Nov 23, 2016	MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chédiak-Higashi syndrome	germline	1	235731179	CTTAAAACACCCTTTAATCTTTTTACTTGCAGAGCAGTATGGTATGACCCCATCTACTATC
-1	445985	NM_001083962.1(TCF4):c.1650-2A>G	TCF4	Dec 08, 2015	MedGen:CN517202	not provided	germline	18	55229078	TTAGAAAATGTTGCATCCCTTTTGTCCCACAGCAATAATGACGATGAGGACCTGACACCAG
1131692175	424178	NM_003797.4(EED):c.904A>G (p.Arg302Gly)	EED	Jul 11, 2017	MedGen:CN314204,OMIM:617561	Cohen-Gibson syndrome	germline	11	86268499	CAGAAAATCCATTTTCCTGATTTTTCTACCAGAGACATACATAGGAATTATGTTGATTGTG
774658703	421487	NM_025132.3(WDR19):c.1480-2A>G	WDR19	Sep 20, 2015	MedGen:CN517202	not provided	germline	4	39224882	ATTTTCATGGCTGGATTTTTTTTTTTTTTTAGACTGGTGTCGTTCAGTATTTCTACATTGA
104886033	21833	NM_001360.2(DHCR7):c.1A>G (p.Met1Val)	DHCR7	Aug 16, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline;unknown	11	71444952	TAAGCAAGGTTCTCTTTCTTGCAGGGCCCAATGGCTGCAAAATCGCAACCCAACATTCCCA
796052637	203774	NM_172107.3(KCNQ2):c.848A>G (p.Lys283Arg)	KCNQ2	Jul 17, 2014	MedGen:CN517202	not provided	germline	20	63439677	TCACGCTGACCACCATTGGCTACGGGGACAAGTACCCCCAGACCTGGAACGGCAGGCTCCT
273585644	49407	NM_000084.4(CLCN5):c.815A>G (p.Tyr272Cys)	CLCN5	Aug 09, 2012	MedGen:C1848336,OMIM:300009	Dent disease 1	not provided	X	50086338	TCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATT
1057519719	362828	NM_004333.4(BRAF):c.1415A>G (p.Tyr472Cys)	BRAF	Oct 02, 2014	MedGen:C0684249,OMIM:211980,SNOMED CT:187875007	Lung cancer	somatic	7	140781593	GAATTGGATCTGGATCATTTGGAACAGTCTACAAGGGAAAGTGGCATGGTAAGTATGTAAT
72656354	32315	NM_000089.3(COL1A2):c.70+717A>G	COL1A2	May 01, 2004	MedGen:C1857034,OMIM:225320,Orphanet:ORPHA230851	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	germline	7	94395818	ACTTGGAGTGGGTACATTCTGAAAAGTAATATAAGTGTCTCAATTCACTTTCTAGTCATGG
606231281	167464	NM_002354.2(EPCAM):c.492-2A>G	EPCAM	Sep 11, 2017	MedGen:C2750737,OMIM:613217,Orphanet:ORPHA92050;MedGen:CN517202	Diarrhea 5, with tufting enteropathy, congenital;not provided	germline	2	47377012	TTTTTTTAATACAGATTTTAAATTCTTTACAGTGCACTTCAGAAGGAGATCACAACGCGTT
751381953	188287	NM_002582.3(PARN):c.246-2A>G	PARN	May 01, 2015	MedGen:C4225347,OMIM:616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	germline	16	14627189	CACCTCCTAAGTCTCCTTTTATCTTATCCCAGGTATATAACGAAGTCATTTAACTTCTATG
398123411	99022	NM_000487.5(ARSA):c.1108-2A>G	ARSA	Jul 09, 2015	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:CN517202	Metachromatic leukodystrophy;not provided	germline	22	50625683	CCCCGCCCCGTGACCCCTGACTCTGCCCCCAGAGCCCTCGGCAGTCTCTCTTCTTCTACCC
397515325	76367	NM_001613.2(ACTA2):c.145A>G (p.Met49Val)	ACTA2	May 01, 2011	MedGen:C2673186,OMIM:611788	Aortic aneurysm, familial thoracic 6	germline	10	88947371	GTTGAACCTTTTTAGGGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACG
199473513	78106	NM_000238.3(KCNH2):c.1502A>G (p.Asp501Gly)	KCNH2	Aug 24, 2012	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150952480	TCCACTACTTCAAGGGCTGGTTCCTCATCGACATGGTGGCCGCCATCCCCTTCGACCTGCT
118204455	16207	NM_000505.3(F12):c.158A>G (p.Tyr53Cys)	F12	Jun 15, 1999	na	FACTOR XII (TENRI)	germline	5	177406019	CCGGGGAGCCCTGCCACTTCCCCTTCCAGTACCACCGGCAGCTGTACCACAAATGTACCCA
587784042	168321	NM_133433.3(NIPBL):c.737A>G (p.Asp246Gly)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36971002	CTGATAATCCTAGACATGGTTCAAGTGAGGACTACCTACACATGGTGCACAGGCTAAGTAG
104894634	17989	NM_030665.3(RAI1):c.4685A>G (p.Gln1562Arg)	RAI1	Jun 08, 2012	MedGen:C0795864,OMIM:182290,Orphanet:ORPHA819,SNOMED CT:401315004	Smith-Magenis syndrome	germline	17	17797633	CCTGTAAGGGGCGTGCCAAGCGACGACGACAGCAGCAGGTGCTGCCCCTGGATCCCGCAGA
104894208	22333	NM_001814.5(CTSC):c.857A>G (p.Gln286Arg)	CTSC	Oct 14, 2014	MedGen:C1855627,OMIM:245010,Orphanet:ORPHA2342;MedGen:C0030360,OMIM:245000,Orphanet:ORPHA678,SNOMED CT:40158001	Haim-Munk syndrome;Papillon-Lefèvre syndrome	germline	11	88296165	ACAATTCTCAGACCCCAATCCTAAGCCCTCAGGAGGTTGTGTCTTGTAGCCAGTATGCTCA
797044935	205321	NM_172107.3(KCNQ2):c.710A>G (p.Tyr237Cys)	KCNQ2	Sep 24, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	20	63442512	CTGCCTCTCAGGAGCTGGTCACTGCCTGGTACATCGGCTTCCTTTGTCTCATCCTGGCCTC
886044850	270632	NM_001110556.1(FLNA):c.2405-2A>G	FLNA	Feb 25, 2016	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	germline	X	154362580	GGTCTCAGCCTCCGCTCCTCTCCCCGCCGCAGGGGACGTCAGCATCGGCATCAAGTGTGCC
797044885	205220	NM_205768.2(ZBTB18):c.1382A>G (p.Asn461Ser)	ZBTB18	Oct 04, 2017	MeSH:D030342,MedGen:C0950123;Gene:100190984,MedGen:C2676727,OMIM:612337	Inborn genetic diseases;Mental retardation, autosomal dominant 22	germline	1	244055156	AGTGCGGCAAGAGCTTCCAGTACTCGCACAACCTGAGCCGCCATGCCGTGGTGCACACCCG
1057520551	371398	NM_000280.4(PAX6):c.1184-2A>G	PAX6	Mar 10, 2015	MedGen:CN517202	not provided	germline	11	31790021	TCTACATGGCTATTTCTTTCATCCACTTCTAGGACTCATTTCCCCTGGTGTGTCAGTTCCA
137852385	25207	NM_000132.3(F8):c.328A>G (p.Met110Val)	F8	Aug 15, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154997033	TATGATACAGTGGTCATTACACTTAAGAACATGGCTTCCCATCCTGTCAGTCTTCATGCTG
122445112	26785	NM_000489.4(ATRX):c.6811A>G (p.Arg2271Gly)	ATRX	Nov 15, 2005	MedGen:C4016452	Mental retardation-hypotonic facies syndrome, X-linked	germline	X	77523290	AAAGAAGAAGAAGAGTTGACTGAAGAAGAAAGAAAAGCAGCTTGGGCTGAGTATGAAGCAG
121913240	54282	NM_033360.3(KRAS):c.182A>G (p.Gln61Arg)	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;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006	Colorectal Neoplasms;Neoplasm of the thyroid gland;Non-small cell lung cancer;Noonan syndrome	germline;somatic	12	25227342	GTCTCTTGGATATTCTCGACACAGCAGGTCAAGAGGAGTACAGTGCAATGAGGGACCAGTA
1057521091	409932	NM_139276.2(STAT3):c.1397A>G (p.Asn466Ser)	STAT3	Mar 17, 2017	MedGen:CN517202	not provided	germline	17	42325030	CCCACTCCTTGCCAGTTGTGGTGATCTCCAACATCTGTCAGATGCCAAATGCCTGGGCGTC
587776770	27555	NM_001024847.2(TGFBR2):c.1472-2A>G	TGFBR2	Jan 01, 2006	MedGen:C2674876,OMIM:610168	Loeys-Dietz syndrome 2	germline	3	30688382	AGTGACCCTGTGTTTGCTGGCTTTCTTCACAGAAGTAAAAGATTATGAGCCTCCATTTGGT
370382601	200302	NM_174917.4(ACSF3):c.1A>G (p.Met1Val)	ACSF3	Feb 28, 2014	MedGen:CN517202	not provided	germline	16	89100682	CTTTCTCCAGCTCGGCCGCCTGTCAGTGCAATGCTGCCCCATGTGGTGCTCACCTTCCGGC
730880283	107245	NM_003611.2(OFD1):c.935+706A>G	OFD1	Mar 10, 2014	MedGen:C1845542,OMIM:300424	Retinitis Pigmentosa 23	germline	X	13750239	ACTCTCTTTTTGGCAATAATGAAAAGGTAAATTGATCAAGAGAGAGGAAATAGGCACAAAA
34612342	20332	NM_001128425.1(MUTYH):c.536A>G (p.Tyr179Cys)	MUTYH	Aug 11, 2017	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;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;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;MedGen:CN169374	Carcinoma of colon;Endometrial carcinoma;Hereditary cancer-predisposing syndrome;MUTYH-associated polyposis;MYH-associated polyposis;MYH-associated polyposis;Neoplasm of stomach;Pilomatrixoma;not provided;not specified	germline;unknown	1	45332803	AGGTGAATCAACTCTGGGCTGGCCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGG
57815192	77334	NM_002055.4(GFAP):c.1112A>G (p.Glu371Gly)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911251	TCGAGATCGCCACCTACAGGAAGCTGCTAGAGGGCGAGGAGAACCGGTGAGCCCTCATCAC
377132123	275141	NM_005603.5(ATP8B1):c.2286-2A>G	ATP8B1	Aug 24, 2016	MedGen:C0268318,OMIM:147480,SNOMED CT:235888006;MedGen:C1855731,OMIM:243300,Orphanet:ORPHA99960	Cholestasis of pregnancy;Cholestasis, benign recurrent intrahepatic 1	germline	18	57662617	CACTTTAAACACTGAAATTTGGTTTCCCCTAGTTCTCTTCTTCATGCAAGGATGGAAAACC
797044850	205235	NM_014946.3(SPAST):c.1168A>G (p.Met390Val)	SPAST	Apr 28, 2017	MeSH:D030342,MedGen:C0950123;MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985;MedGen:CN517202	Inborn genetic diseases;Spastic paraplegia 4, autosomal dominant;not provided	germline	2	32127017	CTCTTTGGTCCACCTGGGAATGGGAAGACAATGCTGGTAAGGGTTCTCTTCAAATTTGAGT
397509326	70383	NM_007294.3(BRCA1):c.81-2A>G	BRCA1	Aug 30, 2016	MedGen:C2676676,OMIM:604370;MedGen:CN517202	Breast-ovarian cancer, familial 1;not provided	germline	17	43115781	TATTTTCTTTTTCTCCCCCCCTACCCTGCTAGTCTGGAGTTGATCAAGGAACCTGTCTCCA
1057520683	367321	NM_003722.4(TP63):c.325-18471A>G	TP63	May 04, 2015	MedGen:CN517202	not provided	germline	3	189789801	ACAGCAGCATTGATCAATCTTACAGCTAACATGTTGTACCTGGAAAACAATGCCCAGACTC
766004901	263627	NM_006578.3(GNB5):c.249+3A>G	GNB5	Nov 09, 2016	MedGen:C4310682,OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	germline	15	52153937	TAAGAGGAGGATCGTGAGCTCGTCACAGGTATGTCACACCTGCTGCATAACAGGTGAGCGG
1135401776	424626	NM_033360.3(KRAS):c.440A>G (p.Lys147Arg)	KRAS	Aug 01, 2017	MedGen:C1860991,OMIM:609942	Noonan syndrome 3	unknown	12	25225624	ATGGAATTCCTTTTATTGAAACATCAGCAAAGACAAGACAGGTAAGTAACACTGAAATAAA
-1	424234	NM_032354.4(TMEM107):c.134A>G (p.Glu45Gly)	TMEM107	Jul 14, 2017	MedGen:CN317535,OMIM:617563	OROFACIODIGITAL SYNDROME XVI	germline	17	8175980	CCTGCCTGCCTCTCACGTTCACCCCCGAGGAGTATGACAAGCAGGACATTCAGTGAGCTCT
199474657	24628	m.3243A>G	MT-TL1	Oct 06, 2017	MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046,SNOMED CT:237950009;MedGen:C3495438,OMIM:153800;MedGen:C0152164,OMIM:500007,SNOMED CT:18773000;MedGen:C0342289,OMIM:520000,Orphanet:ORPHA225,SNOMED CT:237619009;MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000;MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003;MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C3151970;MedGen:C0751651,Orphanet:ORPHA68380;MedGen:C1838818;MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551;MedGen:CN517202;MedGen:CN169374	3-Methylglutaconic aciduria;Age-related macular degeneration 2;Cyclical vomiting syndrome;Diabetes-deafness syndrome maternally transmitted;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Leigh syndrome;MERRF/MELAS overlap syndrome;Mitochondrial diseases;Muscle stiffness, painful;Myoclonus with epilepsy with ragged red fibers;not provided;not specified	germline;somatic	MT	3243	ACCCAAGAACAGGGTTTGTTAAGATGGCAGAGCCCGGTAATCGCATAAAACTTAAAACTTT
879255101	362720	NM_000527.4(LDLR):c.1988-2A>G	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120368	TTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTG
768119894	204999	NM_005045.3(RELN):c.2168A>G (p.Tyr723Cys)	RELN	Aug 27, 2015	MedGen:C4225327,OMIM:616436	Epilepsy, familial temporal lobe, 7	germline	7	103636370	AAAGCTTTGGCAGTTCCAGGCTCTCCTCTTACCATAACTTTTACTCTATCCGTGGTGCTGA
-1	440169	NM_001080463.1(DYNC2H1):c.7438-2A>G	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103191515	AGAAAGATTGTTTACTGTATTTTCTTTTTCAGGTGCGAGCCAAATTTACAGTTGATGATTA
80338930	363899	NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser)	SH3TC2	Jul 20, 2017	MedGen:CN043578;MedGen:CN517202	Charcot-Marie-Tooth disease, type IV;not provided	germline	5	149027090	ATGTGCATAACCAGGCAGTGGCTATGGCCAATCTTGGCCACCTGAGCCTTAAGTCCTGGGC
72558202	23455	NM_000392.4(ABCC2):c.4145A>G (p.Gln1382Arg)	ABCC2	Mar 01, 1999	MedGen:C0022350,OMIM:237500,Orphanet:ORPHA234,SNOMED CT:44553005	Dubin-Johnson syndrome	germline	10	99845781	ACCTCCGAGAGAAGCTGACCATCATCCCCCAGGTGAGCTCTAGAACTTACTCGGGCACATG
587781628	150996	NM_001128425.1(MUTYH):c.1187-2A>G	MUTYH	Jun 26, 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	45331558	CCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGACTGTGGGAGTTCCCG
886044023	273079	NM_001849.3(COL6A2):c.1054-2A>G	COL6A2	Jun 20, 2016	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	21	46117872	GTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGG
398122922	48468	NM_003124.4(SPR):c.596-2A>G	SPR	Apr 13, 2015	MedGen:C0268468,OMIM:612716,Orphanet:ORPHA70594,SNOMED CT:45116002	Sepiapterin reductase deficiency	germline	2	72891345	TGTTCCCTCATCGTCTCCTTTTCATCCTCTAGGTCCTCTGGACACAGACATGCAGCAGTTG
879254918	246179	NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113651	ACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGA
-1	440194	NM_001080463.1(DYNC2H1):c.9710-2A>G	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103236428	GTGAAGTATTATCAATATCTTCAACTTTTCAGAATTTGATCTGAGGAGATTTCTTTGTACT
398122522	94573	NM_001204316.1(PRLR):c.635A>G (p.His212Arg)	PRLR	Nov 21, 2013	Human Phenotype Ontology:HP:0000870,MedGen:C0020514,OMIM:615555,Orphanet:ORPHA397685,SNOMED CT:237662005	Hyperprolactinemia	germline	5	35070174	ACCTTGTCCAGGTTCGCTGCAAACCAGACCATGGATACTGGAGTGCATGGAGTCCAGCGAC
398123035	70521	NM_006012.2(CLPP):c.270+4A>G	CLPP	Jun 17, 2013	MedGen:CN233178;Gene:100653390,MedGen:C2681413,OMIM:614129	Autosomal recessive hearing impairment with normal menstrual cycles;Perrault syndrome 3	germline	19	6361944	GAGCGCATCGTGTGCGTCATGGGCCCGGTGAGCGCCCCGCGCCGGGACCCTCCCCAGGACT
122445098	26766	NM_000489.4(ATRX):c.6488A>G (p.Tyr2163Cys)	ATRX	Mar 24, 1995	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847	ATR-X syndrome	germline	X	77558685	GCTTTGGACAAACTAAGCCTGTTTATGTATATAGGTTCTTAGCTCAGGTAGGTTTATAATT
587776926	48151	NM_001004434.2(SLC30A2):c.161A>G (p.His54Arg)	SLC30A2	Dec 22, 2006	MedGen:C1842486,OMIM:608118	Zinc deficiency, transient neonatal	germline	1	26045107	AGCTGGCTGCCCAGAGCAACCATCACTGCCATGCTCAGAAGGGTCCTGACAGTCACTGTGA
886041019	263152	NM_006087.3(TUBB4A):c.1162A>G (p.Met388Val)	TUBB4A	Jan 23, 2017	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441;MedGen:CN517202	Leukodystrophy, hypomyelinating, 6;not provided	germline	19	6495337	TTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCTTGCACTGGT
1064792863	224754	NM_001257988.1(TYMP):c.467A>G (p.Asp156Gly)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50528561	GTGGTCTGGGGCACACAGGAGGCACCTTGGATAAGCTGGAGTCTATTCCTGGATTCAATGT
587776944	48566	NM_001310338.1(MGME1):c.743A>G (p.Tyr248Cys)	MGME1	Feb 01, 2013	MedGen:C3554462,OMIM:615084,Orphanet:ORPHA352447	Mitochondrial DNA depletion syndrome 11	germline	20	17975870	AAAGTGCTGTTCAACATGAAACCTTAAACTATATAGGTCTGCTGGACTGTGTGGCTGAGTA
397516082	51976	NM_000256.3(MYBPC3):c.927-2A>G	MYBPC3	Jun 01, 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	47346372	CCCCCGGCCACAGCCTAGACTGCGGGACACAGGGACTCGAAGCTGGAGGCACCAGCAGAGG
515726190	136338	NM_015713.4(RRM2B):c.556A>G (p.Arg186Gly)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102218942	ATTGAAACGATTTTATGTCTCCCAGGGGAAAGAGTGGTGGCCTTTGCTGCTGTAGAAGGAG
201865375	215649	NM_004092.3(ECHS1):c.176A>G (p.Asn59Ser)	ECHS1	Oct 01, 2015	MedGen:C4225391,OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	germline	10	133370670	TGATCCAACTGAACCGCCCCAAGGCCCTCAATGCACTTTGCGATGGCCTGATTGACGAGCT
1085307206	414141	NM_001204.6(BMPR2):c.304A>G (p.Thr102Ala)	BMPR2	-	MedGen:CN243982	Pulmonary arterial hypertension associated with congenital heart disease	germline	2	202467575	CAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAA
111033554	32519	NM_000493.3(COL10A1):c.1790A>G (p.Tyr597Cys)	COL10A1	Jan 01, 1998	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	germline	6	116120326	GAATCTTTACTTGTCAGATACCAGGAATATACTATTTTTCATACCACGTGCATGTGAAAGG
775621284	419138	NM_014694.3(ADAMTSL2):c.234-2A>G	ADAMTSL2	Jun 17, 2017	MedGen:C3278147,OMIM:231050,SNOMED CT:28557005	Geleophysic dysplasia 1	de novo	9	133538347	GCCCTCACTCCGAGCCTGCATCTTTCTGCCAGGAGGAAGTCCGTCCCGGGCCCCGGGAACA
1064793741	405129	NM_000143.3(FH):c.268-2A>G	FH	Jun 09, 2015	MedGen:CN517202	not provided	germline	1	241513715	TAAATTTGAAATATTTTTCTGATTAATTTTAGACCCCAGTTATTAAAGCTTTTGGCATCTT
199476319	40561	NM_001018005.1(TPM1):c.742A>G (p.Lys248Glu)	TPM1	Apr 15, 2012	MedGen:CN179850;MedGen:CN517202	Left ventricular noncompaction 9;not provided	germline	15	63062615	CGGGCTGAGTTTGCGGAGAGGTCAGTAACTAAATTGGAGAAAAGCATTGATGACTTAGAAG
869025278	222988	NM_014704.3(CEP104):c.2572-2A>G	CEP104	Feb 02, 2016	MedGen:C4084842,OMIM:616781	Joubert syndrome 25	germline	1	3816372	GATTAACACTCTGTGTGCCTCCTCTGCTGCAGGCATGGAAAGCTCACCTGATGGGCCCAGC
886038787	258304	NM_003242.5(TGFBR2):c.1261A>G (p.Thr421Ala)	TGFBR2	Jul 01, 2013	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	3	30674111	CCTCACTGTCTGTTTTTGCTATAGGTGGGAACTGCAAGATACATGGCTCCAGAAGTCCTAG
886042602	267578	NM_000088.3(COL1A1):c.643-2A>G	COL1A1	Oct 05, 2015	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline	17	50197787	CATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGG
886041358	265071	NM_000444.5(PHEX):c.1080-2A>G	PHEX	Jun 30, 2016	MedGen:CN517202	not provided	germline	X	22111465	TACAATAAATGGGCATCTCTCTCTGTTAACAGGACCATTGCCAACTATTTGGTGTGGAGAA
104893967	24189	NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys)	GUCA1A	Oct 28, 2015	MedGen:C1865869,OMIM:602093;Human Phenotype Ontology:HP:0007754,MedGen:C0730292;Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:CN517202	Cone dystrophy 3;Macular dystrophy;Retinitis pigmentosa;not provided	germline;unknown	6	42178374	AACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAACGGCTGCATTGACCG
104894551	17653	NM_001128085.1(ASPA):c.71A>G (p.Glu24Gly)	ASPA	Nov 01, 2002	MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005	Spongy degeneration of central nervous system	germline	17	3476230	TTGCTATCTTTGGAGGAACCCATGGGAATGAGCTAACCGGAGTATTTCTGGTTAAGCATTG
1064793786	407299	NM_000127.2(EXT1):c.812A>G (p.Tyr271Cys)	EXT1	Jul 10, 2015	MedGen:CN517202	not provided	germline	8	118110235	AGTACATGCTGGTATTCAAGGGGAAGAGGTACCTGACAGGGATAGGATCAGACACCAGGAA
104894232	16182	NM_145014.2(HYLS1):c.632A>G (p.Asp211Gly)	HYLS1	Jan 27, 2016	MedGen:C2931104,Orphanet:ORPHA2189;MedGen:C1856016,OMIM:236680	Hydrolethalus syndrome;Hydrolethalus syndrome 1	germline	11	125900000	ACCAGTTAAGCCGAAACCGGGGCAAGACAGACCGGGTAGCCCGGTATTTTGAGTACAAACG
199473371	78463	NM_000891.2(KCNJ2):c.233A>G (p.Asp78Gly)	KCNJ2	Apr 17, 2014	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	70175272	ACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTT
730881077	179845	NM_000363.4(TNNI3):c.547A>G (p.Lys183Glu)	TNNI3	Mar 30, 2013	MedGen:CN517202	not provided	germline	19	55154032	CTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTGAGTGTGGGCTAAGGCCAGGAAAGAG
779696968	213501	NM_000166.5(GJB1):c.305A>G (p.Glu102Gly)	GJB1	May 02, 2017	MedGen:CN118851;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;not provided	germline	X	71224012	CCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGG
-1	432014	NM_020686.5(ABAT):c.817-2A>G	ABAT	Sep 12, 2017	MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007	Gamma-aminobutyric acid transaminase deficiency	germline	16	8772778	CATCGGTGGTCACTTTCCCCTTTGGGATCCAGGTGGAGGATCTGATTGTGAAATATCGGAA
587777496	143207	NM_020435.3(GJC2):c.-170A>G	GJC2	Nov 15, 2016	MedGen:C1837355,OMIM:608804,Orphanet:ORPHA280270	Leukodystrophy, hypomyelinating, 2	germline	1	228149857	AGGGATTCAGACCCTGAGGCCGAGGGGGGAACAATGGGGCCCTTGAGGGCCCCTCCTCCAG
387907242	44263	NM_022912.2(REEP1):c.304-2A>G	REEP1	Aug 01, 2012	MedGen:C3553656,OMIM:614751	Distal hereditary motor neuronopathy type 5B	germline	2	86252072	AGCTCAGTGTGCCTCTGTTTTTCCTTTGACAGGAAATCGATGATTGTCTGGTCCAAGCAAA
121434251	18385	NM_000348.3(SRD5A2):c.692A>G (p.His231Arg)	SRD5A2	Jun 12, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31529313	TTTGTTTCCTTGGGCTGCGAGCTTTTCACCACCATAGGTAAATTTTTCAATAAAAGCGGCA
281874752	36124	NM_000495.4(COL4A5):c.4977-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108696295	TGGATCTGATTGTCTTATTTCTTATTTCCCAGTAAACCTCAGTCAGAAACGCTGAAAGCAG
104894725	179835	NM_000363.4(TNNI3):c.616A>G (p.Lys206Glu)	TNNI3	Jun 28, 2013	MedGen:CN517202	not provided	germline	19	55151851	GATGCACTGAGTGGAATGGAGGGCCGCAAGAAAAAGTTTGAGAGCTGAGCCTTCCTGCCTA
-1	473428	NM_000249.3(MLH1):c.1731+4A>G	MLH1	Jan 10, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	3	37042335	GCCAATTTTGGTGTTCTCAGGTTATCGGTAAGTTTAGATCCTTTTCACTTCTGAAATTTCA
397514536	48171	NM_001168272.1(ITPR1):c.1759A>G (p.Asn587Asp)	ITPR1	Feb 05, 2013	MedGen:C1861732,OMIM:117360,Orphanet:ORPHA208513	Spinocerebellar ataxia 29	germline	3	4667467	GAAGACACTATCACTGCCCTGCTCCACAATAATCGGAAACTCCTGGAAAAACACATTACCG
111033415	52313	NM_000260.3(MYO7A):c.1344-2A>G	MYO7A	Nov 18, 2013	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77162118	AACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCTGCATCAACTTCGCCA
-1	424393	NM_003136.3(SRP54):c.343A>G (p.Thr115Ala)	SRP54	Jul 14, 2017	MedGen:C0272170,OMIM:260400,Orphanet:ORPHA811,SNOMED CT:89454001	Shwachman syndrome	de novo	14	35007370	ATGTTTGTTGGATTGCAAGGGAGTGGTAAAACAACAACATGTTCAAAGGTAAATTGAACTT
-1	430452	NM_006031.5(PCNT):c.1680-2A>G	PCNT	Jun 20, 2016	MedGen:C0432246,OMIM:210720,Orphanet:ORPHA2637	Microcephalic osteodysplastic primordial dwarfism type 2	germline	21	46353985	TGTAAAGCTTTTATAAAATGTTTTCCCTTCAGGTTGTCCTGTGTGGGTTTAGAAGAGAAAC
397518454	76370	NM_031157.3(HNRNPA1):c.956A>G (p.Asn319Ser)	HNRNPA1	Mar 28, 2013	MedGen:C3715156,OMIM:615426	Amyotrophic lateral sclerosis 20	germline	12	54283860	GTGGAAGCTACAATGATTTTGGGAATTACAACAATCAGTCTTCAAATTTTGGACCCATGAA
1085307083	227220	NM_001190879.2(ORC4):c.1A>G (p.Met1Val)	ORC4	Mar 18, 2016	MedGen:C3151097,OMIM:613800	Meier-Gorlin syndrome 2	germline	2	147975958	AATTTTTTTAAAGGATTTGAATTTGTTGAAATGAGCAGTCGTAAATCAAAGAGTAACAGCT
864321678	215757	NM_018960.5(GNMT):c.422A>G (p.Asn141Ser)	GNMT	Jan 01, 2003	MedGen:C1847720,OMIM:606664,Orphanet:ORPHA289891	Glycine N-methyltransferase deficiency	germline	6	42962849	GTGGCTTTGATGCTGTCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGG
118192102	24623	m.8296A>G	MT-TK	Apr 17, 1998	MedGen:C0342289,OMIM:520000,Orphanet:ORPHA225,SNOMED CT:237619009	Diabetes-deafness syndrome maternally transmitted	germline	MT	8296	ATAGCACCCCCTCTACCCCCTCTAGAGCCCACTGTAAAGCTAACTTAGCATTAACCTTTTA
587784418	170140	NM_006306.3(SMC1A):c.3254A>G (p.Tyr1085Cys)	SMC1A	Aug 08, 2017	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009	Congenital muscular hypertrophy-cerebral syndrome	germline	X	53382537	AATCTGTGGCTACCAACATTGATGAGATCTATAAGGCCCTGTCCCGCAATAGCAGTGCCCA
-1	431427	NM_002585.3(PBX1):c.511-2A>G	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	164799697	CAATGACGGTGTTGATTGTCCTGCCATTCCAGGCCTGCAACGAGTTCACCACCCACGTGAT
281860300	38771	NM_005247.2(FGF3):c.146A>G (p.Tyr49Cys)	FGF3	Sep 20, 2012	MedGen:C1853144,OMIM:610706,Orphanet:ORPHA90024	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	germline	11	69818788	TTGGCGGGGCGCCCCGGCGCCGCAAGCTCTACTGCGCCACGAAGTACCACCTCCAGCTGCA
104894201	31992	NM_001885.2(CRYAB):c.358A>G (p.Arg120Gly)	CRYAB	Oct 29, 2012	MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058	Alpha-B crystallinopathy	germline	11	111908934	GAACATGGTTTCATCTCCAGGGAGTTCCACAGGAAATACCGGATCCCAGCTGATGTAGACC
749974929	471749	NM_001849.3(COL6A2):c.1459-2A>G	COL6A2	Mar 09, 2017	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	21	46121554	TGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGG
121918070	28460	NM_000371.3(TTR):c.238A>G (p.Thr80Ala)	TTR	Jul 27, 2017	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008;MedGen:CN517202	Amyloidogenic transthyretin amyloidosis;not provided	germline	18	31595157	AGTGAGTCTGGAGAGCTGCATGGGCTCACAACTGAGGAGGAATTTGTAGAAGGGATATACA
62638632	98758	NM_000328.2(RPGR):c.155-2A>G	RPGR	Jul 01, 2013	MedGen:C1848295,OMIM:300029;MedGen:CN517202	Retinitis pigmentosa 15;not provided	germline	X	38322947	TCAATTGATTATTTCTTTTTCCCTCCTACCAGGAAATAATAAACTTTACATGTTTGGCAGT
397514253	32891	NM_000041.3(APOE):c.237-2A>G	APOE	Feb 15, 1987	MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED CT:398796005	Familial type 3 hyperlipoproteinemia	germline	19	44908531	TGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGT
121964849	27511	NM_001159287.1(TPI1):c.622A>G (p.Ile208Val)	TPI1	Jan 01, 1997	MedGen:C1860808,OMIM:615512,Orphanet:ORPHA868	Triosephosphate isomerase deficiency	germline	12	6869741	GTCGTCCTGGCCTATGAGCCTGTGTGGGCCATTGGTACTGGCAAGACTGCAACACCCCAAC
763296857	451173	NM_000348.3(SRD5A2):c.578A>G (p.Asn193Ser)	SRD5A2	Oct 31, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31529427	GTGGCTTGTTTACGTATGTTTCTGGAGCCAATTTCCTCGGTGAGATCATTGAATGGATCGG
387906899	39417	NM_015560.2(OPA1):c.1294A>G (p.Ile432Val)	OPA1	Apr 07, 2017	MedGen:C1852267,OMIM:125250,Orphanet:ORPHA1215;MedGen:C0751651,Orphanet:ORPHA68380	Autosomal dominant optic atrophy plus syndrome;Mitochondrial diseases	germline	3	193643609	AGCAAAGCTTACATGCAGAATCCTAATGCCATCATACTGTGTATTCAAGGTAAATCATATC
121918470	28384	NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg)	PTPN11	Nov 03, 2015	MedGen:C0041409,OMIM:163950;MedGen:CN517202	Noonan syndrome 1;not provided	germline	12	112489105	AGAGGTCAGGGATGGTCCAGACAGAAGCACAGTACCGATTTATCTATATGGCGGTCCAGCA
397514366	36354	NM_000060.4(BTD):c.515A>G (p.Asn172Ser)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644371	CCATCAGGGGAGATATGTTCTTGGTGGCCAATCTTGGGACAAAGGAGCCTTGTCATAGCAG
755903502	263762	NM_005506.3(SCARB2):c.1412A>G (p.Glu471Gly)	SCARB2	Mar 05, 2015	MedGen:C0751779,OMIM:254900,Orphanet:ORPHA163696	Epilepsy, progressive myoclonic 4, with or without renal failure	germline	4	76161738	TCTCTTCTGTGTTTCAGGGAACAGCGGATGAAAGAGCACCCCTCATTCGAACCTAAACATT
28936071	26750	NM_004429.4(EFNB1):c.472A>G (p.Met158Val)	EFNB1	Jun 08, 2004	MedGen:C0220767,OMIM:304110	Craniofrontonasal dysplasia	germline	X	68839729	CGGGAGGGCGGTGTGTGCCGCACACGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTG
879255231	48179	NM_003647.2(DGKE):c.889-2A>G	DGKE	Feb 01, 2013	MedGen:C3554330,OMIM:615008	Nephrotic syndrome, type 7	germline	17	56848694	GAAAAATCTAAAACATATCTTCCATATTCTAGGGACAAGAAAAGTACATTCCACAAGTTGC
879255630	247505	NM_001256865.1(DNAJC6):c.2569A>G (p.Arg857Gly)	DNAJC6	Aug 09, 2016	MedGen:CN237819	Parkinson disease 19b, early-onset	germline	1	65411394	GTAACACCAGAGCAGGTGAAGAAGGTGTACAGGAAGGCTGTCCTGGTGGTGCACCCAGATA
104894117	24060	NM_178138.5(LHX3):c.332A>G (p.Tyr111Cys)	LHX3	Jul 15, 2008	MedGen:C1857330,OMIM:221750	Pituitary hormone deficiency, combined 3	germline	9	136199800	AGGTGGTGCGCCGCGCCCAGGACTTCGTGTACCACCTGCACTGCTTTGCCTGCGTCGTGTG
128621206	26424	NM_000061.2(BTK):c.1766A>G (p.Glu589Gly)	BTK	Oct 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101353336	TTTTTCACCTTCTAGGGGTTTTGATGTGGGAAATTTACTCCCTGGGGAAGATGCCATATGA
587776791	28135	NM_000321.2(RB1):c.2490-1398A>G	RB1	Jan 29, 2018	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	germline	13	48471962	TTCACAAGGGTGCTGTGGATCAGGGAAATGATGAGTATGAAGCTGTTTTAAATTCTCAGAT
754621494	438878	NM_199242.2(UNC13D):c.1847A>G (p.Glu616Gly)	UNC13D	May 08, 2017	MedGen:CN517202	not provided	germline	17	75835410	CGCGGGTGCAGCGCGCTGTGCAGATGGATGAGGTGGGGGCGTGGCCAGGGCAGGGGGCGGG
397518003	57638	NM_007123.5(USH2A):c.1841-2A>G	USH2A	Jun 14, 2016	MedGen:CN239332;MedGen:C1848634,OMIM:276901	USH2A-Related Disorders;Usher syndrome, type 2A	germline	1	216289412	AAGTCATAATGCATAACCTTTCCCTGATGCAGGAAGGAACTGTGAGCTGTGCAAGGATTAC
121434279	18634	NM_000016.5(ACADM):c.577A>G (p.Thr193Ala)	ACADM	Jan 15, 1999	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline	1	75740088	TATATTATTAATGGTCAGAAGATGTGGATAACCAACGGAGGAAAAGCTAATTGGTATGTTG
74315413	28451	NM_000311.4(PRNP):c.560A>G (p.His187Arg)	PRNP	Dec 18, 2008	MedGen:C0162534,Orphanet:ORPHA56970;MedGen:C0017495,OMIM:137440,Orphanet:ORPHA356,SNOMED CT:67155006;MedGen:C1847650,OMIM:606688	Genetic prion diseases;Gerstmann-Straussler-Scheinker syndrome;Spongiform encephalopathy with neuropsychiatric features	germline	20	4699780	ACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAA
527236034	152907	NM_000834.4(GRIN2B):c.1238A>G (p.Glu413Gly)	GRIN2B	-	MedGen:C3151411,OMIM:613970	Mental retardation, autosomal dominant 6	de novo	12	13616545	ATGACCATCTGAGCATTGTGACCCTGGAGGAGGCACCATTTGTCATTGTGGAAAGTGTGGA
387906777	39080	NM_000209.3(PDX1):c.533A>G (p.Glu178Gly)	PDX1	Jul 28, 2016	MedGen:C1833382,OMIM:606392;MedGen:C1850096,OMIM:260370,Orphanet:ORPHA2805;MedGen:C1850096,OMIM:260370,Orphanet:ORPHA2805;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Maturity-onset diabetes of the young, type 4;Pancreatic agenesis, congenital;Pancreatic agenesis, congenital;Permanent neonatal diabetes mellitus	germline	13	27924382	ACAAGTACATCTCACGGCCGCGCCGGGTGGAGCTGGCTGTCATGTTGAACTTGACCGAGAG
111033313	19879	NM_000441.1(SLC26A4):c.919-2A>G	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	107683453	TGGAGTTTTTAACATCTTTTGTTTTATTTCAGACGATAATTGCTACTGCCATTTCATATGG
398123769	100173	NM_003494.3(DYSF):c.1398-2A>G	DYSF	Dec 10, 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	71539155	GTGTTCAGGCCCTCTCTGCTCCCTTGCTCTAGGGACCGCCTGACTCACAATGACATCGTGG
140987490	19019	NM_000144.4(FXN):c.385-2A>G	FXN	Mar 08, 1996	MedGen:C0016719,Orphanet:ORPHA95,SNOMED CT:10394003	Friedreich's ataxia	germline	9	69064936	TCTTTATGCTTTTTTTCCACCTAATCCCCTAGAGTGGTGTCTTAACTGTCAAACTGGGTGG
367543267	36636	NM_000155.3(GALT):c.968A>G (p.Tyr323Cys)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649473	GGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCG
28936704	22732	NM_003865.2(HESX1):c.541A>G (p.Thr181Ala)	HESX1	Jan 01, 2001	MedGen:C2750027	Growth hormone deficiency with pituitary anomalies	germline	3	57198214	CAGTTTCTAATGGCGAAAAAAAATTTCAACACAAATCTGCTGGAATAGATAGAAAACTAAA
-1	380144	NM_001429.3(EP300):c.3857A>G	EP300	Mar 03, 2017	MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284	Rubinstein-Taybi syndrome 2	germline	22	41166649	TAAAGAAAAGTGCACGAACTAGGAAAGAAAATAAGTTTTCTGCTAAAAGTAAGTTTTATTC
794728377	197249	NM_000238.3(KCNH2):c.1900A>G (p.Thr634Ala)	KCNH2	May 28, 2014	MedGen:CN517202	not provided	germline	7	150951493	AGTGTGGGCTTCGGCAACGTCTCTCCCAACACCAACTCAGAGAAGATCTTCTCCATCTGCG
137854530	30966	NM_000516.5(GNAS):c.1A>G (p.Met1Val)	GNAS	Oct 12, 2017	Human Phenotype Ontology:HP:0000852,MedGen:C0033806,OMIM:103580,Orphanet:ORPHA97593;MedGen:CN517202	Pseudohypoparathyroidism type 1A;not provided	germline	20	58891727	CGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGG
786203996	185738	NM_058163.2(TSR2):c.191A>G (p.Glu64Gly)	TSR2	May 19, 2015	MedGen:C4225422,OMIM:300946;MedGen:C1853576,OMIM:606164	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis;Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	germline	X	54443418	TTTTCTACTTAGCTGACTTGGAGCTAGATGAGGTGGAAGACTTCCTTGGAGAGCTGTTGAC
1064793854	408349	NM_207122.1(EXT2):c.627-2A>G	EXT2	Jul 23, 2015	MedGen:CN517202	not provided	germline	11	44114183	TCTCATCGTTTAACAAAATACTTTGCTTTCAGGGCCCTGTTGGCTGGTGGCGGCTTTTCTA
777090017	188290	NM_002582.3(PARN):c.1262A>G (p.Lys421Arg)	PARN	May 01, 2015	MedGen:C4225347,OMIM:616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	germline	16	14580874	GATCAAAACTCATTGAACCTTTTTTTAACAAGTAAGTAATCAGAGAGTTCCAGTTTCCAAG
786202098	182801	NM_000535.6(PMS2):c.354-2A>G	PMS2	Sep 22, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	germline	7	6002638	CTGAACACACCATGCCTGGTATTCTCTCACAGCGATGTCACCATTTCTACCTGCCACGCAT
398123022	59390	NM_130466.3(UBE3B):c.545-2A>G	UBE3B	May 03, 2013	MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707	Kaufman oculocerebrofacial syndrome	germline	12	109489917	ACTTTTTTGTTCTCACTGTTTTCTTTCTTTAGGTGAAAGTCTTCGACCAGCGATGAACCAC
387906625	38654	NM_000138.4(FBN1):c.5087A>G (p.Tyr1696Cys)	FBN1	Jan 04, 2018	MedGen:C3280054,OMIM:614185	Geleophysic dysplasia 2	germline	15	48463219	CCCTTCTAGATATGAGAAGAAGTTTGTGCTACAGAAACTACTATGCTGACAACCAGACCTG
1057520573	375162	NM_003482.3(KMT2D):c.1259-2A>G	KMT2D	Apr 02, 2015	MedGen:CN517202	not provided	germline	12	49052426	TAGATAGGAGCATCGTGTTGTTGTGTCTGCAGGGAAAGCAGGGGTCCAACTTGAGCCCCAG
121434454	24658	m.7526A>G	MT-TD	Aug 30, 2005	MedGen:C4016606	Mitochondrial myopathy, isolated	germline	MT	7526	TGGCCTCCATGACTTTTTCAAAAAGGTATTAGAAAAACCATTTCATAACTTTGTCAAAGTT
104886453	35679	NM_000495.4(COL4A5):c.892-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108580981	TTGTTGCCCTATCATTTCTTTGTATCCTATAGGGTAAACCAGGCAAAGATGGAGAAAATGG
766046008	404679	NM_016532.3(INPP5K):c.899A>G (p.Tyr300Cys)	INPP5K	Apr 04, 2017	MedGen:CN241833,OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	germline	17	1498000	CGTCACACTTCTCCTTGTCTCTGAGGGGCTACAGCAGCCACATGACGTACGGCATCAGCGA
80356543	19664	NM_021830.4(TWNK):c.955A>G (p.Lys319Glu)	TWNK	Jul 22, 2010	MedGen:C1836439,OMIM:609286;MedGen:C1843851,OMIM:607459,Orphanet:ORPHA70595	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	germline	10	100989165	GGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAAC
876659676	232244	NM_001128425.1(MUTYH):c.847A>G (p.Met283Val)	MUTYH	Jun 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	1	45332252	GCCCGGCCAGGAGATTTCAACCAAGCAGCCATGGAGCTAGGGGCCACAGTGTGTACCCCAC
121912505	29460	NM_000238.3(KCNH2):c.1408A>G (p.Asn470Asp)	KCNH2	Feb 17, 2006	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C3150943,OMIM:613688	Congenital long QT syndrome;Long QT syndrome 2	germline	7	150952574	GACATCATGTTCATTGTGGACATCCTCATCAACTTCCGCACCACCTACGTCAATGCCAACG
121908473	20843	NM_139025.4(ADAMTS13):c.1582A>G (p.Arg528Gly)	ADAMTS13	Oct 04, 2001	MedGen:C1268935,OMIM:274150,Orphanet:ORPHA93583,SNOMED CT:373420004	Upshaw-Schulman syndrome	germline	9	133437895	ACCCTGAGCCTGTGTGTGTCGGGCAGCTGCAGGGTAGGCGTGTGTGGACATTGGCGATGGC
878853160	237522	NM_003718.4(CDK13):c.2525A>G (p.Asn842Ser)	CDK13	Feb 02, 2018	MedGen:CN240690,OMIM:617360;MedGen:CN517202	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder;not provided	de novo;germline	7	40046007	ACTTTTTGCATAGAGATATTAAATGTTCCAATATCCTTCTAAATAATAGGTATGGGTATGA
121909008	22167	NM_000492.3(CFTR):c.2738A>G (p.Tyr913Cys)	CFTR	Sep 01, 1990	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117603612	ATGCAGTGATTATCACCAGCACCAGTTCGTATTATGTGTTTTACATTTACGTGGGAGTAGC
199476121	24766	m.4136A>G	MT-ND1	Nov 01, 1991	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	4136	CCTCCCTGTTCTTATGAATTCGAACAGCATACCCCCGATTCCGCTACGACCAACTCATACA
786200928	39679	NM_206933.2(USH2A):c.7595-2144A>G	USH2A	Jan 01, 2015	MeSH:D052245,MedGen:C0271097,Orphanet:ORPHA886;MedGen:C1848634,OMIM:276901	Usher syndrome;Usher syndrome, type 2A	germline;unknown	1	215891198	ATTGAAATTGAACACCTCTCCTTTCCCAAGATAAGAGATCATCTTTAAGAAAAGGCTGTGT
137852683	24053	NM_004387.3(NKX2-5):c.896A>G (p.Asp299Gly)	NKX2-5	Sep 01, 2004	MedGen:C1862388,OMIM:108900;MedGen:C1833590	Atrial septal defect 7 with or without atrioventricular conduction defects;Atrioventricular septal defect, somatic	somatic	5	173232648	ACAACAACTTCGTGAACTTCGGCGTCGGGGACTTGAATGCGGTTCAGAGCCCCGGGATTCC
63750067	30686	NM_000517.4(HBA2):c.*92A>G	HBA2	Mar 27, 2017	MedGen:C4016148;MedGen:CN077787;MedGen:CN517202;MedGen:CN169374	Alpha-thalassemia-2, nondeletional;Hemoglobin H disease, nondeletional;not provided;not specified	germline	16	173692	CCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGC
72554358	103069	NM_000531.5(OTC):c.377A>G (p.Asp126Gly)	OTC	-	MedGen:CN517202	not provided	unknown	X	38381420	TTCATTTGGGTGTGAATGAAAGTCTCACGGACACGGCCCGGTTTGTAAATATTTTCTTCTC
199469650	106394	NM_003590.4(CUL3):c.1207-26A>G	CUL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	2	224503848	GTACTGCTTTTGTAGAACTAAAATTGTATAATTGTTACATCATCTTAATTTTGCAGCTAAC
373227647	187996	NM_000124.3(ERCC6):c.2830-2A>G	ERCC6	Jul 19, 2016	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN517202	Cockayne syndrome B;not provided	germline	10	49472472	CTCGTTGAGAGGTCTCTCTCTCTCTGTTGCAGGCCCGGGAGCGAGCATGGAGAATAGGCCA
1057517927	360477	NM_000199.3(SGSH):c.356-2A>G	SGSH	Dec 01, 2016	MedGen:CN517202	not provided	germline	17	80214767	GGGACTCTGGCCAGGCCTCTCTTCCCGCCCAGGCATCATCGGGAAGAAGCACGTGGGGCCG
104893786	28081	NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	RHO	Nov 01, 1993	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	3	129528777	AAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGA
77931234	18625	NM_001127328.2(ACADM):c.997A>G (p.Lys333Glu)	ACADM	Oct 04, 2017	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline;paternal;unknown	1	75761161	ATATCATTTATGCTGGCTGAAATGGCAATGAAAGTTGAACTAGCTAGAATGAGTTACCAGA
879254687	245807	NM_000527.4(LDLR):c.818-2A>G	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107390	ACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTC
28937315	24471	NM_004380.2(CREBBP):c.3524A>G (p.Tyr1175Cys)	CREBBP	Jul 01, 2002	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3757894	GGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTT
375129361	70527	NM_004656.3(BAP1):c.277A>G (p.Thr93Ala)	BAP1	Jun 06, 2013	MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539	Tumor susceptibility linked to germline BAP1 mutations	germline	3	52408056	GTTTCACAGCTGATACCCAACTCTTGTGCAACTCATGCCTTGCTGAGCGTGCTCCTGAACT
587777303	132074	NM_003181.3(TBXT):c.512A>G (p.His171Arg)	TBXT	Feb 01, 2014	MedGen:C3810343,OMIM:615709,Orphanet:ORPHA397927	Sacral agenesis with vertebral anomalies	germline	6	166165800	ACTCCTTGCATAAGTATGAGCCTCGAATCCACATAGTGAGAGTTGGGGGTCCACAGCGCAT
62516141	108274	NM_000277.2(PAH):c.1157A>G (p.Tyr386Cys)	PAH	May 26, 2015	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102843688	ATTACACTGTCACGGAGTTCCAGCCCCTCTATTACGTGGCAGAGAGTTTTAATGATGCCAA
397509279	70230	NM_007294.3(BRCA1):c.5406+4A>G	BRCA1	Sep 27, 2016	MedGen:CN517202	not provided	germline	17	43049117	GAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGAC
121965077	26911	NM_000137.2(FAH):c.1141A>G (p.Arg381Gly)	FAH	Feb 01, 1995	MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006	Tyrosinemia type I	germline	15	80181120	AAGCCCATAGACCTGGGGAATGGTCAGACCAGGAAGTTTCTGCTGGACGGGGATGAAGTCA
863223426	209585	NM_001204.6(BMPR2):c.377A>G (p.Asn126Ser)	BMPR2	Sep 03, 2014	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN517202	Primary pulmonary hypertension;not provided	germline	2	202467648	GCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACAC
81002858	66469	NM_000059.3(BRCA2):c.517-2A>G	BRCA2	May 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	32326497	TATAAAAAATAAACTATTTTCTTTCCTCCCAGGGTCGTCAGACACCAAAACATATTTCTGA
104894171	20061	NM_004897.4(MINPP1):c.809A>G (p.Gln270Arg)	MINPP1	Apr 01, 2001	Human Phenotype Ontology:HP:0006731,MedGen:C0206682,OMIM:188470	Thyroid cancer, follicular	germline	10	87508507	ACATTTTAAAAAAAGTTGCAGCTACTTTGCAAGTGCCAGTAAATGATTTAAATGCAGGTAA
111033817	36657	NM_000155.3(GALT):c.1048A>G (p.Thr350Ala)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649553	GAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTC
137853596	15133	NM_004315.5(ASAH1):c.1006A>G (p.Asn336Asp)	ASAH1	Mar 01, 2001	MedGen:C0268255,OMIM:228000,SNOMED CT:79935000	Farber's lipogranulomatosis	germline	8	18059424	AAGCAGGGTAGATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACATCCCTTCTTCC
786205219	188062	NM_006129.4(BMP1):c.808A>G (p.Met270Val)	BMP1	Feb 01, 2015	MedGen:C3553887,OMIM:614856	Osteogenesis imperfecta, type xiii	germline	8	22177929	CTGGGGGAGACCTATGACTTCGACAGCATCATGCATTACGCTCGGAACACATTCTCCAGGT
797044910	205265	NM_000314.6(PTEN):c.71A>G (p.Asp24Gly)	PTEN	Jun 01, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	germline	10	87864540	GGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCTGTATCCATTTCTGCGGCTGCTC
-1	432073	NM_014112.4(TRPS1):c.2732A>G (p.Asn911Ser)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006	Trichorhinophalangeal dysplasia type I	germline	8	115418421	GGCGTAGAGGCTCCGGTGTTTTTTGTGCCAATTGCCTGACCACAAAGACCTCTCTCTGGCG
515726219	132060	NM_000406.2(GNRHR):c.94A>G (p.Thr32Ala)	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	67754242	CCACTGATGCAGGGCAACCTCCCCACTCTGACCTTGTCTGGAAAGATCCGAGTGACGGTTA
387906903	39428	NM_021625.4(TRPV4):c.590A>G (p.Lys197Arg)	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	109803113	AGCCATCTACGGGGAAGACCTGCCTGCCCAAGGCCTTGCTGAACCTGAGCAATGGCCGCAA
199473165	78634	NM_198056.2(SCN5A):c.2527A>G (p.Thr843Ala)	SCN5A	Sep 14, 2011	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	3	38585951	GGGAACTCAGTGGGGGCACTGGGGAACCTGACACTGGTGCTAGCCATCATCGTGTTCATCT
886039762	260389	NM_198329.3(UBA5):c.760A>G (p.Lys254Glu)	UBA5	Nov 22, 2016	MedGen:C4310699,OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24	germline	3	132675363	AATCCTCAGTGTGATGACAGAAATTGCAGGAAGCAGCAGGAGGAATATAAGGTATATGACA
587783406	170096	NM_003159.2(CDKL5):c.62A>G (p.Glu21Gly)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo;germline	X	18507158	ATAAATTTGAGATCCTTGGGGTTGTAGGTGAAGGTAAGTTGGAATTTTTGCGTTCCTTGAG
387907137	40152	NM_177965.3(C8orf37):c.545A>G (p.Gln182Arg)	C8orf37	Jan 13, 2012	MedGen:CN121949	Retinitis pigmentosa 64	germline	8	95247696	AGAAGAAAGGAACACGGGCATATGCCTGCCAGTGTAGCTGGAGAACTATTGAAGAAGTGAC
863223398	204402	NM_007315.3(STAT1):c.832A>G (p.Lys278Glu)	STAT1	Nov 15, 2014	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	germline	2	190995173	GAGAGTCTGCAGCAAGTTCGGCAGCAGCTTAAAAAGTTGGAGGAATTGGAACAGAAATACA
137853033	21550	NM_001080463.1(DYNC2H1):c.4610A>G (p.Gln1537Arg)	DYNC2H1	May 01, 2009	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Short-rib thoracic dysplasia 3 with or without polydactyly	germline	11	103163146	GTGCAGTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTAGAAGCTACAT
797044568	187684	NM_212472.2(PRKAR1A):c.177+3A>G	PRKAR1A	Jan 29, 2015	MedGen:C2607929,OMIM:160980	Carney complex, type 1	germline	17	68515579	CAGGGAATACTTTGAGAGGTTGGAGAAGGTAAAAATAAATGTGGGGAGATGATGAGGTGAT
119477054	19717	NM_174916.2(UBR1):c.407A>G (p.His136Arg)	UBR1	Dec 01, 2005	MedGen:C0175692,OMIM:243800,SNOMED CT:75979009	Johanson-Blizzard syndrome	germline	15	43082648	ACTGCTTCCAGGACAGTGTTCATAAAAATCATCGTTACAAGGTAAGAAAATATAACCATAA
367543065	39760	NM_024549.5(TCTN1):c.221-2A>G	TCTN1	Mar 29, 2012	MedGen:C3280031,OMIM:614173	Joubert syndrome 13	germline	12	110619834	TGTTCTGGATCCTACCCCTCTTTTTTCTGCAGTTGCTGTTCTCTGTGTCTGTGACTTATCC
587783486	169239	NM_004380.2(CREBBP):c.3983-2A>G	CREBBP	Sep 03, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3740551	GCCCTCTCACCTGCTCCTTCTGGACTTCCTAGGGCTGCAGACCACAAGACTGGGAAACCAC
863223281	20549	NM_004239.4(TRIP11):c.202-2A>G	TRIP11	Jan 21, 2010	MedGen:C0265273,OMIM:200600,Orphanet:ORPHA93299,SNOMED CT:42725006	Achondrogenesis, type IA	germline	14	92025422	GTCTTTTTGTTGAAAATACTTTTTTTTTCTAGAATGAAAGGCTTAAGAAACTTTGTACTGA
797045064	205797	NM_000533.4(PLP1):c.1A>G (p.Met1Val)	PLP1	Sep 23, 2014	Human Phenotype Ontology:HP:0003269,MedGen:C0205711,OMIM:312080,Orphanet:ORPHA702,SNOMED CT:64855000	Pelizaeus-Merzbacher disease	maternal	X	103776996	GGCTACAATTGGAGTCAGAGTCCCAAAGACATGGGTAAGTTTCAAAAACTTTAGCATTGAA
879254931	246199	NM_000527.4(LDLR):c.1525A>G (p.Lys509Glu)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113701	TCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGC
137852567	24849	NM_000044.4(AR):c.2291A>G (p.Tyr764Cys)	AR	Jan 01, 1995	MedGen:C0268301,OMIM:312300,Orphanet:ORPHA90797,SNOMED CT:58672003	Partial androgen insensitivity syndrome	germline	X	67717595	CCTTCACCAATGTCAACTCCAGGATGCTCTACTTCGCCCCTGATCTGGTTTTCAATGAGTA
267606993	17348	NM_005609.3(PYGM):c.1A>G (p.Met1Val)	PYGM	Dec 15, 2015	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009	Glycogen storage disease, type V	germline;unknown	11	64759898	CAGTCCAGTCCGGCCCGCCCTCCTGCAGCCATGTCCCGGCCCCTGTCAGACCAAGAGAAAA
74315396	20348	NM_170784.2(MKKS):c.110A>G (p.Tyr37Cys)	MKKS	Feb 13, 2015	MedGen:C1858054,OMIM:605231;MedGen:C4016908;MedGen:C0948368,OMIM:236700	Bardet-Biedl syndrome 6;Bardet-biedl syndrome 2/6, digenic;McKusick Kaufman syndrome	germline	20	10413405	CTGTCTTGAAAAGAATTGTAACATCATGCTATGGCCCCTCAGGTAGGCTGAAGCAGCTGCA
672601319	171736	NM_014191.3(SCN8A):c.667A>G (p.Arg223Gly)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51688810	CTAGGCAATGTTTCAGCTCTACGCACTTTCAGGGTACTGAGGGCTTTGAAAACTATTTCGG
-1	482087	NM_014714.3(IFT140):c.2400-2A>G	IFT140	Nov 24, 2017	MedGen:CN517202	not provided	germline	16	1526798	CAGGAGCCTCACAGACCCCCGTCTGCCCACAGTGAGGCCGTCTGGGAGAACATGGCGCGCA
-1	485724	NM_001252634.1(THRB):c.928A>G (p.Met310Val)	THRB	May 06, 2014	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24127715	GACCAGATCATCCTCCTCAAAGGCTGCTGCATGGAGATCATGTCCCTTCGCGCTGCTGTGC
-1	432486	NG_012839.1:g.136787A>G	GRM1	Sep 26, 2017	MedGen:CN492437,OMIM:617691	SPINOCEREBELLAR ATAXIA 44	germline	6	146159432	GCCTCTGTATCGCCCATTCTGACAAAATCTACAGCAACGCTGGGGAGAAGAGCTTTGACCG
80358163	46006	NM_007294.3(BRCA1):c.213-12A>G	BRCA1	Oct 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;unknown	17	43104968	TAATCACTTGCTGAGTGTGTTTCTCAAACAATTTAATTTCAGGAGCCTACAAGAAAGTACG
786204826	187181	NM_004771.3(MMP20):c.611A>G (p.His204Arg)	MMP20	Mar 01, 2013	MedGen:C2675858,OMIM:612529	Amelogenesis imperfecta, hypomaturation type, IIA2	germline	11	102609943	CTCCTGGAGAAGGCCTGGGAGGAGATACACATTTCGACAATGCTGAGAAGTGGACTATGGG
137854380	264678	NM_000548.4(TSC2):c.2640-2A>G	TSC2	Dec 16, 2015	MedGen:CN517202	not provided	germline	16	2076066	AGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCC
267607036	33439	NM_016955.3(SEPSECS):c.1001A>G (p.Tyr334Cys)	SEPSECS	Oct 08, 2010	MedGen:C3151140,OMIM:613811	Pontocerebellar hypoplasia type 2D	germline	4	25144799	TTACTTTATTGTCACTTGGATCAAATGGCTATAAGAAGCTACTAAAAGAAAGAAAGGTAAG
878853278	237805	NM_001183.5(ATP6AP1):c.938A>G (p.Tyr313Cys)	ATP6AP1	Feb 13, 2017	MedGen:C3151226,OMIM:613860,Orphanet:ORPHA331190	Immunodeficiency due to ficolin 3 deficiency	germline	X	154435153	TTCTCTGGCCCCACAGGCTCTCACTGACCTATGAACGACTCTTTGGTACCACAGTGACATT
121912574	23611	NM_000901.4(NR3C2):c.2915A>G (p.Glu972Gly)	NR3C2	Nov 01, 2006	MedGen:C1449842,OMIM:177735,Orphanet:ORPHA171871	Pseudohypoaldosteronism type 1 autosomal dominant	germline	4	148081384	AGATCATCAGCGACCAGCTGCCCAAGGTGGAGTCGGGGAACGCCAAGCCGCTCTACTTCCA
690016544	171813	NM_005861.3(STUB1):c.194A>G (p.Asn65Ser)	STUB1	Dec 22, 2014	MedGen:C4014261,OMIM:615768,Orphanet:ORPHA412057	Spinocerebellar ataxia, autosomal recessive 16	germline	16	681186	GGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCA
606231134	17365	NM_033071.3(SYNE1):c.15705-12A>G	SYNE1	May 14, 2015	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644;MedGen:CN517202	Spinocerebellar ataxia, autosomal recessive 8;not provided	germline	6	152321898	CTTTCACTTCACTTCTGTTTTATCCCTGTAATGTTTCTGAAGCATGCAGGAGAAAGTGAAG
1064797102	362593	NM_016023.3(OTUD6B):c.173-2A>G	OTUD6B	May 03, 2017	MedGen:CN235126;MedGen:CN243958,OMIM:617452;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C0014544,Orphanet:ORPHA166463	Dysmorphic features;Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies;Intellectual disability;Seizure Disorders	germline;inherited	8	91071136	TGTCTGACTTAATGATTTTAATGGCTTTTCAGCCAAAATTCAGGGCATGAAGAATGCTGTT
267608480	165886	NM_003159.2(CDKL5):c.464-2A>G	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	de novo	X	18584261	AAGTTACAACTTTGGACTTTGCTATCTTTCAGGTTTTGCTCGTAATCTGTCAGAAGGCAAT
74315300	24006	NM_000098.2(CPT2):c.638A>G (p.Asp213Gly)	CPT2	Jan 01, 2005	MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	germline	1	53210312	GGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTC
104894822	25481	NM_000166.5(GJB1):c.614A>G (p.Asn205Ser)	GJB1	Jun 27, 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	71224321	TAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCG
771170000	214358	NM_015681.4(B9D1):c.95A>G (p.Tyr32Cys)	B9D1	Sep 23, 2016	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C4310706,OMIM:617120	Joubert syndrome;Joubert syndrome 27	germline;unknown	17	19360357	TTCCAGAGTATGATGACCTCTACTGCAAGTACTGCTTTGTGTACGGCCAGGACTGGGCCCC
104894561	23780	NM_001893.4(CSNK1D):c.130A>G (p.Thr44Ala)	CSNK1D	May 01, 2013	MedGen:C3808874,OMIM:615224	Advanced sleep phase syndrome, familial, 2	germline	17	82265743	GAGGTTGCCATCAAGCTTGAATGTGTCAAAACCAAACACCCTCAGCTCCACATTGAGAGCA
397514693	59460	NM_001893.4(CSNK1D):c.137A>G (p.His46Arg)	CSNK1D	May 10, 2013	MedGen:C3808874,OMIM:615224	Advanced sleep phase syndrome, familial, 2	germline	17	82265736	CCATCAAGCTTGAATGTGTCAAAACCAAACACCCTCAGCTCCACATTGAGAGCAAAATCTA
148862100	17609	NM_006493.2(CLN5):c.1121A>G (p.Tyr374Cys)	CLN5	Jul 19, 2016	MedGen:C1850442,OMIM:256731,Orphanet:ORPHA228360;MedGen:CN517202	Ceroid lipofuscinosis neuronal 5;not provided	germline	13	77000866	TGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAA
377750405	75321	NM_173551.4(ANKS6):c.1322A>G (p.Gln441Arg)	ANKS6	Aug 01, 2013	MedGen:C3809320,OMIM:615382,Orphanet:ORPHA93591	Nephronophthisis 16	germline	9	98780235	AGCCTCCCCTGCCCCACTCGAAGGTCCGACAGCCCTGGAGCATCCCAGTGCTGCCCGATGA
201578674	22620	NM_006214.3(PHYH):c.135-2A>G	PHYH	May 01, 2000	MedGen:C2749345	Refsum disease, adult, 1	germline	10	13295608	TAACTTATTTTGGGATTCTTTTTCTCCTTTAGGTATACTCTGGATAATAACGTTCTAACCC
878853066	237237	NM_022168.3(IFIH1):c.1328A>G (p.Asp443Gly)	IFIH1	Jun 24, 2015	MedGen:CN517202	not provided	germline	2	162281524	TCTTTTAAGACTTTTCCCTCATTATCATTGATGAATGTCATCACACCAACAAAGAAGCAGT
60171927	29667	NM_000526.4(KRT14):c.368A>G (p.Asn123Ser)	KRT14	Sep 03, 2015	MedGen:C0079295,OMIM:131760,Orphanet:ORPHA79396;MedGen:CN517202	Epidermolysis bullosa herpetiformis, Dowling-Meara;not provided	germline	17	41586467	GCAGTGAGAAGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGT
-1	28277	NM_002743.3(PRKCSH):c.1341-2A>G	PRKCSH	Mar 01, 2003	Human Phenotype Ontology:HP:0006557,MedGen:C0158683,OMIM:174050,SNOMED CT:72925005	Congenital cystic disease of liver	germline	19	11449074	GCCCAGCCCTCAGCACCCTGTGTCTCTCACAGCACCTGGGGCTCATGGATTGGCCCCGACC
74315406	28441	NM_000311.4(PRNP):c.650A>G (p.Gln217Arg)	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	4699870	AGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCA
587776747	26325	NM_004006.2(DMD):c.9225-285A>G	DMD	Jun 01, 2003	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009	Becker muscular dystrophy	unknown	X	31261301	TAGTCGATTATTGATCACATAACAAGGTCAATTTATCATAACTGAAGTGCGATCGATTTGT
864309719	215755	NM_001143826.2(MAPRE2):c.74A>G (p.Asn25Ser)	MAPRE2	Dec 03, 2015	MedGen:C4225225,OMIM:616734	Skin creases, congenital symmetric circumferential, 2	germline	18	35070275	TGAGCAGACATGACATCATTGCATGGGTTAATGACATAGTATCTTTAAACTACACAAAAGT
587777465	143136	NM_001128159.2(VPS53):c.2084A>G (p.Gln695Arg)	VPS53	May 01, 2014	MedGen:C4014488,OMIM:615851,Orphanet:ORPHA247198	Pontocerebellar hypoplasia, type 2e	germline	17	532843	GCAAGCCAATTAGCATGGTGGGAGCAGAACAGGTGAGATGGACGTAGTATCAGGCATTTGC
794728050	196796	NM_000090.3(COL3A1):c.2338-2A>G	COL3A1	Aug 05, 2013	MedGen:CN517202	not provided	germline	2	189001534	GCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGG
121434362	16895	NM_152783.4(D2HGDH):c.1315A>G (p.Asn439Asp)	D2HGDH	Oct 01, 2005	MedGen:C3152055,OMIM:600721	D-2-hydroxyglutaric aciduria 1	germline	2	241767718	CCATGTGCCCTTGTCCCTCCAGGAGATGGTAACCTGCACCTCAATGTGACGGCGGAGGCCT
120074166	18217	NM_138477.3(CDAN1):c.1796A>G (p.Asn599Ser)	CDAN1	Jul 01, 2003	MedGen:C0271933,OMIM:224120,Orphanet:ORPHA98869,SNOMED CT:59548005	Congenital dyserythropoietic anemia, type I	germline	15	42731275	ACAGTCTGAGCTTGAAGATCCAGGAGCTCAATGGTCTTGCCCTGCCCCAGCATGAGCCCAA
121908487	20830	NM_014270.4(SLC7A9):c.695A>G (p.Tyr232Cys)	SLC7A9	Jan 01, 2005	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	19	32862127	GCCTGGCGTTTTACAATGGACTCTGGGCCTATGATGGATGGTGAGGTGTCCTGAGATGTCC
397507505	48957	NM_002834.4(PTPN11):c.172A>G (p.Asn58Asp)	PTPN11	Mar 11, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	12	112450352	AATGGAGCTGTCACCCACATCAAGATTCAGAACACTGGTGATTACTATGACCTGTATGGAG
886038790	258858	NM_000138.4(FBN1):c.5789-2A>G	FBN1	Sep 07, 2012	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	15	48445506	ATATTAAAGGATTGTTGGGGATTTTTCTGCAGATGTTGATGAATGTGCAAGTGGAAATGGG
121908988	21886	NM_016203.3(PRKAG2):c.1148A>G (p.His383Arg)	PRKAG2	May 15, 2001	MedGen:C1833236,OMIM:600858	Familial hypertrophic cardiomyopathy 6	germline	7	151568801	CTGTATACTCCTTGATCAAAAATAAAATCCACAGATTGCCCGTTATTGACCCTATCAGTGG
312262829	49537	NM_003611.2(OFD1):c.382-2A>G	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13739000	CTGAATAAAAGTGAAATATTTTCTTTTAACAGGTTTCAGGATCTGATAAAGAAAATCAAAA
779582317	245065	NM_058216.2(RAD51C):c.905-2A>G	RAD51C	Sep 27, 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	58724038	CCATATACAGTTATTATGTTTTTTACTCTCAGGGGAAAGTTGGGGACATGCTGCTACAATA
863223966	210670	NM_000143.3(FH):c.1093A>G (p.Ser365Gly)	FH	Mar 03, 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	241504057	GAATTGATCTTGCCTGAAAATGAACCAGGAAGCAGTATCATGCCAGGTAATCACATAGCTA
757674160	226846	NM_014669.4(NUP93):c.1886A>G (p.Tyr629Cys)	NUP93	Apr 06, 2016	MedGen:C4225166,OMIM:616892	Nephrotic syndrome, type 12	germline	16	56836704	AAGGACTGTTTGAAGAGGCAGCAAAGCTGTATGACCTTGCCAAGGTAAAGTGTGCCCACTT
118192126	76864	NM_000540.2(RYR1):c.10100A>G (p.Lys3367Arg)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38519295	ACTTCATCCCAACTATCGGGCGGCTGCGCAAGAGGGCAGGGAAGGTGGTGTCCGAGGAGGA
797045512	208849	NM_178151.2(DCX):c.280A>G (p.Asn94Asp)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002536,MedGen:C1856019	Abnormal cortical gyration	germline	X	111410119	CTGGCTGACCTGACGCGATCTCTGTCTGACAACATCAACCTGCCTCAGGGAGTGCGTTACA
-1	437710	NM_206898.1(MRAP):c.1A>G (p.Met1Val)	MRAP	Sep 30, 2017	MedGen:C4049650,OMIM:202200	ACTH resistance	germline	21	32298972	CCCGGACGCTGACTGCCCAGTGCCACAGACATGGCCAACGGGACCAACGCCTCTGCCCCAT
753662982	440155	NM_001080463.1(DYNC2H1):c.6265A>G (p.Asn2089Asp)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	unknown	11	103179151	CCCAGTGGAGAAAGGATTCAGTTTGGCCCAAATGTTAACTTTGTATTTGAAACTCATGATT
397508298	68047	NM_000492.3(CFTR):c.1766+3A>G	CFTR	Jun 13, 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	117590442	TTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGCTC
765231758	443376	NM_007289.3(MME):c.1781-2A>G	MME	Oct 27, 2017	MedGen:CN517202	not provided	germline	3	155168490	GTTCCCATTTTACTTAAATAAATATATTATAGGCAGAAACTTTAACAAAGATGGAGACCTC
62653611	47477	NM_000288.3(PEX7):c.854A>G (p.His285Arg)	PEX7	Sep 13, 2012	MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789	Rhizomelic chondrodysplasia punctata type 1	not provided	6	136898192	CTGACTCTCTTCTTGAAACAGTGGAGCATCATACAGAGTTTACTTGTGGTTTAGACTTCAG
121912513	197195	NM_000238.3(KCNH2):c.2582A>G (p.Asn861Ser)	KCNH2	Oct 30, 2013	MedGen:CN517202	not provided	germline	7	150948866	ACTTCTGGTCCAGCCTGGAGATCACCTTCAACCTGCGAGATGTGAGTTGGCTGCCCTGAGC
1131691100	466393	NM_000267.3(NF1):c.61-2A>G	NF1	Mar 26, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline	17	31155981	GTTAACGTGTTTTTTTTTTCTTTTTTTTTCAGCTTCCAATAAAAACAGGACAGCAGAACAC
121913103	76472	NM_000142.4(FGFR3):c.2421A>G (p.Ter807Trp)	FGFR3	Sep 12, 2013	MedGen:C1868678,OMIM:187600,Orphanet:ORPHA1860	Thanatophoric dysplasia type 1	not provided	4	1807262	CCCACCCAGCAGTGGGGGCTCGCGGACGTGAAGGGCCACTGGTCCCCAACAATGTGAGGGG
80358011	69419	NM_007294.3(BRCA1):c.302-2A>G	BRCA1	Sep 21, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43104263	GCAAACATAATGTTTTCCCTTGTATTTTACAGATGCAAACAGCTATAATTTTGCAAAAAAG
794727998	196425	NM_005045.3(RELN):c.2288A>G (p.Asp763Gly)	RELN	Aug 27, 2015	MedGen:C4225327,OMIM:616436	Epilepsy, familial temporal lobe, 7	germline	7	103636250	GGCGGCGTCAGCTAATTACATCTTTCCTTGACAGCTCACAATCCAGGTGAGTGAAGGCAGG
1060503666	403919	NM_000268.3(NF2):c.676-2A>G	NF2	Jun 25, 2016	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29661203	GCTTACAGTAGCTGTTCTTATTGGATCCACAGAATAAAAAGGGCACAGAGCTGCTGCTTGG
-1	434926	NM_000944.4(PPP3CA):c.275A>G (p.His92Arg)	PPP3CA	Jan 22, 2018	MedGen:CN547334,OMIM:617711	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	germline	4	101109063	TTTTGTTTCTTTCAGTTTGTGGGGACATTCATGGACAATTCTTTGATTTGATGAAGCTCTT
786204979	187622	NM_003159.2(CDKL5):c.2277-2A>G	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo	X	18619865	AATCAATATGATAAAAATGTCTTCTCATTTAGGAAAAGTCCTGAAAATATTAGTCATTCAG
398122844	38892	NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys)	CASK	Feb 02, 2015	MedGen:C1845546,OMIM:300422;MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	FG syndrome 4;Mental retardation and microcephaly with pontine and cerebellar hypoplasia	germline	X	41534946	TAGTGTTTGATCAATTAGATCTTGTCACATATGAAGAAGTAGTAAAACTGCCAGCATTCAA
566912235	150329	NM_031229.3(RBCK1):c.1160A>G (p.Asn387Ser)	RBCK1	Dec 01, 2013	MedGen:C4014605,OMIM:615895,Orphanet:ORPHA397937	Polyglucosan body myopathy 1 with or without immunodeficiency	germline	20	427443	AGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTTTCCACGT
121918061	15110	NM_000374.4(UROD):c.932A>G (p.Tyr311Cys)	UROD	Apr 01, 1996	MedGen:C0162569	Hepatoerythropoietic porphyria	germline	1	45014996	TGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCT
397514042	31889	NM_024422.4(DSC2):c.631-2A>G	DSC2	Aug 08, 2014	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1864850,OMIM:610476;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 11;not provided	germline	18	31087815	TCACTTTTCTCCTTATTTTACTCTCTTCACAGATAATTGCCTTTGCAACAACTCCAGATGG
281875213	40292	NM_024110.4(CARD14):c.425A>G (p.Glu142Gly)	CARD14	Nov 25, 2014	MedGen:C1864497,OMIM:602723;MedGen:CN517202	Psoriasis susceptibility 2;not provided	germline	17	80183988	TCGGCAGCCTGCAGGAGGAGCTGAACCAGGAAAAGGGGCAGAAGGAGGTGCTGCTGCGGCG
33981098	30505	NM_000518.4(HBB):c.-81A>G	HBB	Apr 20, 2017	MedGen:C3841475;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202	Beta-plus-thalassemia;beta Thalassemia;not provided	germline	11	5227102	GAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTT
72556293	103139	NM_000531.5(OTC):c.548A>G (p.Tyr183Cys)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403625	CTCCTTCATCCCGTGCCTTTTAGGAACACTATAGCTCTCTGAAAGGTCTTACCCTCAGCTG
121908655	21340	NM_003839.3(TNFRSF11A):c.508A>G (p.Arg170Gly)	TNFRSF11A	Nov 26, 2009	MedGen:C2676766,OMIM:612301,Orphanet:ORPHA178389	Osteopetrosis autosomal recessive 7	germline	18	62358328	TCTGATGCCTTTTCCTCCACGGACAAATGCAGACCCTGGACCAAGTAAGTAACAACAAAGG
886041295	264589	NM_000834.4(GRIN2B):c.1547A>G (p.Asn516Ser)	GRIN2B	May 12, 2017	MedGen:CN517202	not provided	germline	12	13615221	CCTACATGGCAGTGGGCTCACTCACCATCAATGAGGAACGATCGGAGGTGGTCGACTTCTC
387906750	39019	NM_001354.5(AKR1C2):c.235A>G (p.Ile79Val)	AKR1C2	Aug 12, 2011	Gene:6994,MedGen:C1839840,OMIM:614279,Orphanet:ORPHA443087	46,XY sex reversal 8	germline	10	5001531	ATTGCAGATGGCAGTGTGAAGAGAGAAGACATATTCTACACTTCAAAGGTACTGTGCCTAT
397507561	21755	NM_004629.1(FANCG):c.925-2A>G	FANCG	Feb 10, 2011	MedGen:C3469527,OMIM:614082	Fanconi anemia, complementation group G	germline	9	35076585	TTATAGATACAATTTTTTTCTTTCTCTTTTAGGCCTTGAATGTCCCATGCAGTTCCAAAGC
80358019	69770	NM_007294.3(BRCA1):c.4097-2A>G	BRCA1	Oct 19, 2017	MedGen:C2676676,OMIM:604370;MedGen:CN517202	Breast-ovarian cancer, familial 1;not provided	germline	17	43091034	TTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAA
72552725	36689	NM_003060.3(SLC22A5):c.95A>G (p.Asn32Ser)	SLC22A5	May 22, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202;MedGen:CN169374	Renal carnitine transport defect;not provided;not specified	germline	5	132370067	TCTTCCTGCTCAGCGCCAGCATCATCCCCAATGGCTTCACCGGCCTGTCCTCCGTGTTCCT
756732717	415394	NM_000359.2(TGM1):c.1094A>G (p.Tyr365Cys)	TGM1	Oct 06, 2017	MedGen:CN517202	not provided	germline	14	24259140	GGGTGGGCAGCGTGGAGATCCTGCTTAGCTACCTACGCACGGGATATTCCGTCCCCTATGG
672601337	171783	NM_001164405.1(BHLHA9):c.211A>G (p.Asn71Asp)	BHLHA9	Jan 06, 2015	Gene:619407,MedGen:C1836206,OMIM:609432,Orphanet:ORPHA157801	Syndactyly type 9	germline;inherited	17	1270774	GTGCGGTCCAAGGCGCGGCGCATGGCCGCCAACGTGCGGGAGCGCAAGCGCATCCTAGACT
398123674	99916	NM_001918.3(DBT):c.773-2A>G	DBT	Aug 23, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	1	100214985	AAATAAATGAATAACAATTTAATGCTTTTCAGGCTTTCAAAAAGCAATGGTCAAGACTATG
72558444	103218	NM_000531.5(OTC):c.790A>G (p.Thr264Ala)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408948	GCGCATGGAGGCAATGTATTAATTACAGACACTTGGATAAGCATGGGACAAGAAGAGGAGA
281875320	39107	NM_005359.5(SMAD4):c.1500A>G (p.Ile500Met)	SMAD4	Jan 31, 2017	MedGen:C0796081,OMIM:139210,Orphanet:ORPHA2588;MedGen:CN517202	Myhre syndrome;not provided	de novo;germline	18	51078308	TGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGA
62507347	15678	NM_000277.2(PAH):c.227A>G (p.Glu76Gly)	PAH	Mar 01, 2002	Human Phenotype Ontology:HP:0004923,MedGen:C0751435;MedGen:CN517202	Hyperphenylalaninemia, non-pku;not provided	germline	12	102894860	AATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACG
80356540	19666	NM_021830.4(TWNK):c.1523A>G (p.Tyr508Cys)	TWNK	Sep 08, 2017	MedGen:C1849096,OMIM:271245,Orphanet:ORPHA1186;MedGen:CN517202	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type);not provided	germline;paternal	10	100990474	TAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCT
1057516217	357253	NM_000182.4(HADHA):c.1690-2A>G	HADHA	Jan 25, 2017	MedGen:CN074230,OMIM:609016;MedGen:CN517202	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not provided	germline;unknown	2	26193774	CCCCTGAGGTCCCTGCATCGCTTCCTGTTCAGGAAGGAGTTGACCCGAAGAAGCTGGATTC
786205138	185682	NM_030813.5(CLPB):c.1850A>G (p.Tyr617Cys)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72294047	ATGTGCTGGTCGACGGCTACAATGTGCACTATGGCGCCCGCTCCATCAAACATGAGGTGAG
35808389	47770	NM_198578.3(LRRK2):c.3342A>G (p.Leu1114=)	LRRK2	Sep 13, 2012	MedGen:C1846862,OMIM:607060	Parkinson disease 8, autosomal dominant	not provided	12	40298488	TGTGGTAGAGAAACTGGAGCAGCTCATTTTAGAAGGGTAAGAAAGAGCTCATTAAAAATAA
965713946	369300	NM_194456.1(KRIT1):c.486-2A>G	KRIT1	May 09, 2016	MedGen:CN517202	not provided	germline	7	92235648	GGCTACTTCTACCTGTTTTTTTATTTTGCCAGGTGGTTAGATGAACGTCATGCACAATCTC
398123938	100492	NM_004006.2(DMD):c.3432+3A>G	DMD	-	MedGen:C3668940,OMIM:302045	Dilated cardiomyopathy 3B	germline	X	32463436	CACTCAGTGGGATCACATGTGCCAACAGGTATAGACAATCTCTTTCACTGTGGCTTGCCTC
121908584	16645	NM_016417.2(GLRX5):c.294A>G (p.Gln98=)	GLRX5	Aug 15, 2007	MedGen:C2673914,OMIM:205950,Orphanet:ORPHA255132	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive	germline	14	95535383	CAACGTGCTGGACGACCCGGAGCTCCGACAAGGTCAGGCCAGTGTGCCGGGCAGGCGCCCT
397515497	47378	NM_000495.4(COL4A5):c.3107-4A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108626206	TTGTAAAATATTATATATCACATATTTTCAACAGGGCCTCAGGGTGTGGAAGGGCCTCCTG
78198234	19364	NM_001005741.2(GBA):c.1049A>G (p.His350Arg)	GBA	May 01, 1999	MedGen:C1842704,OMIM:608013,Orphanet:ORPHA85212	Gaucher disease, perinatal lethal	germline	1	155236420	CAGCTAAATATGTTCATGGCATTGCTGTACATTGGTACCTGGACTTTCTGGCTCCAGCCAA
137852855	17718	NM_182760.3(SUMF1):c.1A>G (p.Met1Val)	SUMF1	May 16, 2003	MedGen:C0268263,OMIM:272200,Orphanet:ORPHA585,SNOMED CT:54898003	Multiple sulfatase deficiency	germline	3	4467245	CCAACCGGGTCACATGGCCCGCGGGACAACATGGCTGCGCCCGCACTAGGGCTGGTGTGTG
72653764	427033	NM_001171.5(ABCC6):c.1192A>G (p.Ser398Gly)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16198167	CTGCCCACCCGCCAGGTCCTGGCTCTGTCCAGCGGCTCCAGAAAGGCCAGTGCGGTGGGTG
387906731	38955	m.10450A>G	MT-TR	Mar 01, 2010	MedGen:C0162666,SNOMED CT:447292006	Mitochondrial encephalomyopathy	germline	MT	10450	ACAAAACGAATGATTTCGACTCATTAAATTATGATAATCATATTTACCAAATGCCCCTCAT
587783641	169058	NM_005249.4(FOXG1):c.757A>G (p.Asn253Asp)	FOXG1	Feb 08, 2013	MedGen:C3150705,OMIM:613454	Rett syndrome, congenital variant	de novo;germline	14	28768036	CCGCGCCACTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACG
137852502	25118	NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly)	HPRT1	May 12, 2011	na;MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004	HPRT EDINBURGH;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	germline	X	134475201	ATTTCTGTAGGACTGAACGTCTTGCTCGAGATGTGATGAAGGAGATGGGAGGCCATCACAT
80356807	77818	NM_170707.3(LMNA):c.640-10A>G	LMNA	Jan 10, 2017	MedGen:CN517202	not provided	germline	1	156134795	TCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGC
2853578	24524	NM_005502.3(ABCA1):c.1790A>G (p.Gln597Arg)	ABCA1	Aug 01, 1999	MedGen:C0039292,OMIM:205400,Orphanet:ORPHA31150	Tangier disease	germline	9	104831027	GGTACGTCTGGGGGGGCTTCGCCTACTTGCAGGATGTGGTGGAGCAGGCAATCATCAGGGT
794727099	191381	NM_004463.2(FGD1):c.2016-2A>G	FGD1	Jun 04, 2014	MedGen:C0175701,OMIM:305400,SNOMED CT:14921002	Aarskog syndrome	germline	X	54450303	AAACATCTTTCTTTTTTATTCCCCACCCCAAGGACTGAGGAGGAGAAGAAAGACTGGGTCC
121918653	27852	NM_000899.4(KITLG):c.107A>G (p.Asn36Ser)	KITLG	Jun 01, 2011	Gene:780897,MedGen:C1840392,OMIM:145250,Orphanet:ORPHA280628	Familial progressive hyperpigmentation with or without hypopigmentation	germline	12	88545774	AAGGGATCTGCAGGAATCGTGTGACTAATAATGTAAAAGACGTCACTAAATTGGTAAGTAA
397507523	48988	NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg)	PTPN11	Oct 02, 2017	MedGen:C0041409,OMIM:163950;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202;MedGen:CN169374	Noonan syndrome 1;Rasopathy;not provided;not specified	de novo;germline	12	112472954	TGACTTTTCTTTCTTTCCAGACACTACAACAACAGGAGTGCAAACTTCTCTACAGCCGAAA
121964869	27350	NM_001007792.1(NTRK1):c.986A>G (p.Tyr329Cys)	NTRK1	Aug 01, 2002	MedGen:C0020074,OMIM:256800,Orphanet:ORPHA642,SNOMED CT:62985007	Hereditary insensitivity to pain with anhidrosis	germline	1	156873858	ACCAGCCCACCCACGTCAACAACGGCAACTACACGCTGCTGGCTGCCAACCCCTTCGGCCA
121434236	18394	NM_006445.3(PRPF8):c.6926A>G (p.His2309Arg)	PRPF8	Jul 15, 2001	MedGen:C1838702,OMIM:600059	Retinitis pigmentosa 13	germline	17	1650884	CGAACCCCAAAGAGTTCTACCACGAGGTGCACAGGCCCTCTCACTTCCTCAACTTTGCTCT
121434441	21845	NM_004984.3(KIF5A):c.767A>G (p.Asn256Ser)	KIF5A	May 01, 2008	MedGen:C1858712,OMIM:604187,Orphanet:ORPHA100991	Spastic paraplegia 10	germline	12	57569015	GAGCCGTGCTGGACGAGGCAAAGAATATCAACAAGTCACTGTCAGCTCTGGGCAATGTGAT
199469658	106399	NM_003590.4(CUL3):c.1376A>G (p.Lys459Arg)	CUL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	2	224503653	ACTCTGAAAAAAACATGATATCTAAGTTAAAGGTAAGGTGTGTTTTAGATGAAATAGAGTG
397514650	48684	NM_000108.4(DLD):c.1444A>G (p.Arg482Gly)	DLD	Mar 01, 2005	MedGen:CN043137,OMIM:246900	Maple syrup urine disease, type 3	germline	7	107919079	GAATATGGAGCATCCTGTGAAGATATAGCTAGAGTCTGTCATGCACATCCGGTAATTATTA
587784178	168251	NM_022455.4(NSD1):c.6059A>G (p.Asn2020Ser)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177283836	GTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACA
796052551	203354	NM_000833.4(GRIN2A):c.2449A>G (p.Met817Val)	GRIN2A	Mar 02, 2017	MedGen:CN517202	not provided	germline	16	9768997	GTGATGAGCAGCCAGCTGGACATTGACAACATGGCGGGCGTATTCTACATGCTGGCTGCCG
199476193	47876	NM_207352.3(CYP4V2):c.761A>G (p.His254Arg)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186199043	GGTACCTTATGTTTAAAGAAGGATGGGAACACAAAAAGAGCCTTCAGATCCTACATACTTT
879253779	244080	NM_052965.3(TSEN15):c.455A>G (p.Tyr152Cys)	TSEN15	Sep 26, 2016	MedGen:C4310757,OMIM:617026	Pontocerebellar hypoplasia, type 2f	germline	1	184072258	CCATAGTGGAGTCTGATTCTACAATAGTCTATTATAAACTTACTGATGGATTTATGCTGCC
1057524877	380177	NM_203446.2(SYNJ1):c.2663A>G (p.Tyr888Cys)	SYNJ1	Jan 17, 2018	MedGen:CN240908,OMIM:617389	Epileptic encephalopathy, early infantile, 53	germline	21	32657036	ACACGTGGACTCCAGGCACTTTGCTGCACTATGGAAGAGCTGAGCTGAAGACTTCTGACCA
763862849	204228	NM_052859.3(RFT1):c.454A>G (p.Lys152Glu)	RFT1	Dec 01, 2009	MedGen:C2677590,OMIM:612015,Orphanet:ORPHA244310	Congenital disorder of glycosylation type 1N	germline	3	53122376	TTGGCACAAGCACATATGTTTGTGAAGCTCAAGGTCAGTGCACCTTCTGCTGTGAATGGGA
80159221	408064	NM_000051.3(ATM):c.1236-2A>G	ATM	Aug 22, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:CN517202	Ataxia-telangiectasia syndrome;not provided	germline	11	108250699	GTTTTCAAATTATCCTTTTTTTTTTTTTTTAGGCTACAGATTGCAACCCAATTAATATCAA
587776708	24021	NM_001079668.2(NKX2-1):c.464-2A>G	NKX2-1	Jun 15, 2009	MedGen:C1970269,OMIM:610978,Orphanet:ORPHA209905	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	germline	14	36518022	CCCGGCCGACGCTGTGCGTTTGTCGCTTACAGTCTCCCGCTTCATGGGCCCGGCGAGCGGC
794728203	197735	NM_000138.4(FBN1):c.3344A>G (p.Asp1115Gly)	FBN1	Jun 09, 2017	MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48487431	AACATGGTCATTTCCATTTTGCAGATATTGATGAGTGTCAGAGAGATCCTCTCCTATGCCG
199422248	47558	NM_001363.4(DKC1):c.941A>G (p.Lys314Arg)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	not provided	X	154770784	TGCAGGTAAATGCCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTTCTTCGATATGA
-1	441162	NM_001099401.1(SGCE):c.826-2A>G	SGCE	Apr 21, 2017	MedGen:CN517202	not provided	germline	7	94600859	ATTTGTTGTGTAATTGTCTTCTTTTATATCAGGTTGATAAAACAAAGCAAGTGTCCACCTA
180177035	29012	NM_004333.4(BRAF):c.770A>G (p.Gln257Arg)	BRAF	Sep 26, 2017	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MedGen:CN029449,OMIM:115150,SNOMED CT:403770008;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202;MedGen:CN169374	Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 1;Rasopathy;not provided;not specified	de novo;germline;unknown	7	140801502	TTTGTGACTTTTGTCGAAAGCTGCTTTTCCAGGGTTTCCGCTGTCAAACATGTGGTTATAA
121909050	22134	NM_001040667.2(HSF4):c.256A>G (p.Ile86Val)	HSF4	Jul 01, 2002	Human Phenotype Ontology:HP:0007971,MedGen:C0266537,OMIM:116800	Lamellar cataract	germline	16	67165742	TCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGC
193929353	34054	NM_000525.3(KCNJ11):c.886A>G (p.Ile296Val)	KCNJ11	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	17387206	ATCCTGGAAGGCGTGGTGGAAACCACGGGCATCACCACCCAGGCCCGCACCTCCTACCTGG
765591205	243945	NG_051105.1:g.99621A>G	MME	Jul 06, 2016	MedGen:C4015635,OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	germline	3	155118744	GATTTATTTTCTTTTATGTATATTTTTTATAGATTGACCAACCTCGACTTGGCCTCCCTTC
786204951	187394	NM_001103.3(ACTN2):c.1883A>G (p.Glu628Gly)	ACTN2	Apr 17, 2015	MedGen:CN229563	Familial hypertrophic cardiomyopathy 23	germline	1	236753990	TGCCCATCCGCGATCAATCCCTGCAGGAGGAGCTGGCTCGCCAGCATGCTAACGAGCGTCT
751930594	195547	NM_000050.4(ASS1):c.421-2A>G	ASS1	Sep 01, 2016	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline;unknown	9	130466723	CTCCCGGCTCTGACCCCTTGTCCTATGTCCAGGTCATTGCTCCCTGGAGGATGCCTGAATT
118204092	16540	NM_004035.6(ACOX1):c.926A>G (p.Gln309Arg)	ACOX1	Sep 01, 2007	MedGen:C1849678,OMIM:264470,Orphanet:ORPHA2971	Pseudoneonatal adrenoleukodystrophy	germline	17	75953469	TTGCCATCCGATACAGCGCTGTGAGGCACCAGTCTGAAATCAAGCCAGGGTAAGGATAGGG
28940269	17894	NM_173076.2(ABCA12):c.4139A>G (p.Asn1380Ser)	ABCA12	Dec 01, 2015	MedGen:C1832550,OMIM:601277;MedGen:CN517202	Autosomal recessive congenital ichthyosis 4A;not provided	germline	2	214986566	AAGGGCATATTACTTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTACCATGTATGT
1057516123	353975	NM_172107.3(KCNQ2):c.1732A>G (p.Met578Val)	KCNQ2	Aug 18, 2017	MedGen:C1852587,OMIM:121200;MedGen:CN517202	Benign familial neonatal seizures 1;not provided	germline	20	63413481	ATCGAGCAGTACTCAGCCGGCCACCTGGACATGCTGTCCCGAATTAAGAGCCTGCAGTCCA
398123276	98586	NM_000255.3(MUT):c.1445-2A>G	MUT	Apr 03, 2013	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49447787	GTGAATAAAATTTTTCTTTGGGAAATTACCAGGTTCTGAAGTAATTGTTGGAGTAAATAAG
28935478	26385	NM_000061.2(BTK):c.1082A>G (p.Tyr361Cys)	BTK	Oct 01, 1994	MedGen:C4016473	Hypoagammaglobulinemia, X-linked	germline	X	101358330	TTTTCAGCACCATCCCTGAGCTCATTAACTACCATCAGCACAACTCTGCAGGTGAGTACCA
1057516089	354019	NM_172107.3(KCNQ2):c.649A>G (p.Thr217Ala)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63444700	CGGATGATCCGCATGGACCGGCGGGGAGGCACCTGGAAGCTGCTGGGCTCTGTGGTCTATG
121908046	18715	NM_000403.3(GALE):c.101A>G (p.Asn34Ser)	GALE	Apr 30, 2014	MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004	UDPglucose-4-epimerase deficiency	germline	1	23798907	AGGCTGGCTACTTGCCTGTGGTCATCGATAACTTCCATAATGCCTTCCGTGGTGAGCGGGG
72558443	103217	NM_000531.5(OTC):c.788A>G (p.Asp263Gly)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408946	CAGCGCATGGAGGCAATGTATTAATTACAGACACTTGGATAAGCATGGGACAAGAAGAGGA
121912669	27947	NM_000343.3(SLC5A1):c.83A>G (p.Asp28Gly)	SLC5A1	May 27, 1994	MedGen:C0268186,OMIM:606824,Orphanet:ORPHA35710,SNOMED CT:27943000	Congenital glucose-galactose malabsorption	germline	22	32043364	AGACCCACGAGCTCATTCGCAATGCAGCCGATATCTCCATCATCGTTATCTACTTCGTGGT
869312829	226431	NM_014712.2(SETD1A):c.518-2A>G	SETD1A	Mar 14, 2016	Human Phenotype Ontology:HP:0100753,MedGen:C0036341,OMIM:181500,SNOMED CT:58214004	Schizophrenia	de novo	16	30963431	CTGACAATTGGTTCCCATTTCCCTCCCTCCAGGACAACAACGAATGAAATACTATGAACTA
879254382	245333	NM_000527.4(LDLR):c.1A>G (p.Met1Val)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089549	TCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGA
879255569	79335	NM_005745.7(BCAP31):c.194-2A>G	BCAP31	Sep 05, 2013	Gene:100302680,MedGen:C1845408,OMIM:300475,Orphanet:ORPHA369942	Chromosome Xq28 deletion syndrome	germline	X	153715691	AATGCCCGTGTCTCCTCTCTGCTCCACCACAGATGCCGTGCGCGAAATTCGGAAGTATGAT
121918265	17179	NM_015384.4(NIPBL):c.7289A>G (p.Tyr2430Cys)	NIPBL	Jun 01, 2004	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37057211	TACAGAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATA
-1	457650	NM_001277115.1(DNAH11):c.12196-2A>G	DNAH11	Jul 19, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21880700	GATAATCAAGCATTTCTTCTCTTTTTTCCCAGGATACACTTGAAATATGCTCCAAGGAGCA
387907271	45734	NM_005349.3(RBPJ):c.505A>G (p.Lys169Glu)	RBPJ	Aug 10, 2012	MedGen:C3553748,OMIM:614814	Adams-Oliver syndrome 3	germline	4	26420695	AAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAAAATGCTGACT
119455958	17687	NM_000391.3(TPP1):c.857A>G (p.Asn286Ser)	TPP1	Apr 01, 2004	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349	Ceroid lipofuscinosis neuronal 2	germline	11	6616690	ATGTGCAGTACCTGATGAGTGCTGGTGCCAACATCTCCACCTGGGTCTACAGTAGCCCTGG
121964983	27015	NM_000481.3(AMT):c.125A>G (p.His42Arg)	AMT	Jul 11, 2013	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	3	49422237	TGCTCCGCAGGACACCGCTCTATGACTTCCACCTGGCCCACGGCGGGAAAATGGTGGCGTT
398123043	75078	NM_002246.2(KCNK3):c.575A>G (p.Tyr192Cys)	KCNK3	Jul 25, 2013	MedGen:C3809198,OMIM:615344	Primary pulmonary hypertension 4	germline	2	26727958	AGCACTGGACCTTCTTCCAGGCCTACTACTACTGCTTCATCACCCTCACCACCATCGGCTT
1057516087	354021	NM_172107.3(KCNQ2):c.613A>G (p.Ile205Val)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63444736	TCTGCGCTCCGGAGCCTGCGCTTCCTGCAGATTCTGCGGATGATCCGCATGGACCGGCGGG
121434470	24645	m.4300A>G	MT-TI	May 21, 2003	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	MT	4300	TGTCTGATAAAAGAGTTACTTTGATAGAGTAAATAATAGGAGCTTAAACCCCCTTATTTCT
587776440	165638	NC_012920.1:m.13514A>G	MT-ND5;MT-TL1	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	germline	MT	13514	TACCTTTCCTCACAGGTTTCTACTCCAAAGACCACATCATCGAAACCGCAAACATATCATA
879254703	245831	NM_000527.4(LDLR):c.880A>G (p.Lys294Glu)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107454	TGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGG
137852613	24504	NM_000211.4(ITGB2):c.1052A>G (p.Asn351Ser)	ITGB2	Feb 15, 1992	MedGen:C0272187	Leukocyte adhesion deficiency	germline	21	44895002	CCGTGGGGGAGCTGTCTGAGGACTCCAGCAATGTGGTCCATCTCATTAAGAATGCTTACAA
121907902	18528	NM_024426.4(WT1):c.1391A>G (p.Asp464Gly)	WT1	Oct 18, 1991	MedGen:C0950121,OMIM:194080,Orphanet:ORPHA220,SNOMED CT:236385009	Drash syndrome	germline	11	32392013	AAACTTGTCAGCGAAAGTTCTCCCGGTCCGACCACCTGAAGACCCACACCAGGACTCATAC
587777171	106762	NM_194442.2(LBR):c.1639A>G (p.Asn547Asp)	LBR	Feb 27, 2014	MedGen:C1300226,OMIM:215140,SNOMED CT:389261002	Greenberg dysplasia	germline	1	225404452	TCTGGATGGTGGGGCTTTGTTCGCCACCCCAATTACTTGGGTGATCTCATCATGGCCTTGG
121907990	18898	NM_000053.3(ATP7B):c.3809A>G (p.Asn1270Ser)	ATP7B	Aug 30, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease;Wilson disease;Wilson disease	germline;somatic;unknown	13	51937570	AGAAAGTCGCCATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCCAGGCAGACAT
387907226	44203	NM_000076.2(CDKN1C):c.832A>G (p.Lys278Glu)	CDKN1C	Mar 13, 2014	MedGen:C1846009,OMIM:614732,Orphanet:ORPHA85173	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	germline;maternal	11	2884123	CGCGCGCTGTCGCCCGCAGATTTCTTCGCCAAGCGCAAGAGATCAGCGCCTGAGAAGTCGT
1057519086	359164	NM_152416.3(NDUFAF6):c.820A>G (p.Arg274Gly)	NDUFAF6	Dec 06, 2016	MedGen:C1838951	Leigh syndrome due to mitochondrial complex I deficiency	germline	8	95052177	CGAGCTTCCTCTCCTCTTCCTTTTTAGGCTAGGTCCTTTCACAAAACTGTTCCTGTGAAAG
876658584	236560	NM_000455.4(STK11):c.291-2A>G	STK11	Feb 19, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	19	1218415	CGGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGC
199766569	48145	NM_001139.2(ALOX12B):c.1562A>G (p.Tyr521Cys)	ALOX12B	Jun 14, 2016	MedGen:C1855792,OMIM:242100;Human Phenotype Ontology:HP:0007431,MedGen:C0079583;Human Phenotype Ontology:HP:0008064,MedGen:C0020757;MedGen:CN517202	Autosomal recessive congenital ichthyosis 2;Congenital ichthyosiform erythroderma;Ichthyosis;not provided	germline;unknown	17	8075687	GGTATGTGACGGAGATCATCACCTATTATTACCCGAGTGACGCAGCCGTGGAGGGTGATCC
121908650	21347	NM_030761.4(WNT4):c.647A>G (p.Glu216Gly)	WNT4	Aug 19, 2004	MedGen:C2675014,OMIM:158330,Orphanet:ORPHA247768	Mullerian aplasia and hyperandrogenism	germline	1	22120459	GCAAGTGCCACGGGGTGTCAGGCTCCTGTGAGGTAAAGACGTGCTGGCGAGCCGTGCCGCC
80358238	34064	NM_000639.2(FASLG):c.466A>G (p.Arg156Gly)	FASLG	Sep 08, 2011	MedGen:C1328840,OMIM:601859,Orphanet:ORPHA3261	Autoimmune lymphoproliferative syndrome	not provided	1	172665636	TTTGGATTTATTTCAGGCAAGTCCAACTCAAGGTCCATGCCTCTGGAATGGGAAGACACCT
139877390	188297	NM_001040431.2(COA3):c.215A>G (p.Tyr72Cys)	COA3	Mar 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	17	42798167	CTGTGTGGTTTCCTGAACCTACCTCCCCAGATGGTTACACCTTCTACTCGATTTCCCAGGA
121918515	28287	NM_002739.4(PRKCG):c.380A>G (p.Gln127Arg)	PRKCG	Jul 20, 2017	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763;MedGen:CN517202	Spinocerebellar ataxia 14;not provided	germline	19	53889732	GTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGG
869312127	225784	NM_183050.3(BCKDHB):c.197-2A>G	BCKDHB	Jan 01, 2012	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	6	80127545	ACACGAAATGATTTTTTTTTTGATTTTCACAGGGCAAACTCAGAAAATGAATCTTTTCCAG
1064794139	409259	NM_000138.4(FBN1):c.6872-2A>G	FBN1	Sep 10, 2015	MedGen:CN517202	not provided	germline	15	48428473	CTTGTTTTTGGTCCTTCAATAAAATCAAACAGATGAGAATGAATGTCAGACGAAGCCAGGG
786205151	187665	NM_003816.2(ADAM9):c.1396-2A>G	ADAM9	Dec 01, 2014	MedGen:C1423873,OMIM:612775	Cone-rod dystrophy 9	germline	8	39055575	ATTTCTGTTTAATTTGAATTCTATTTCACTAGTTCCTTCCAGGAGGTACTTTATGCCGAGG
-1	439911	NM_022124.5(CDH23):c.1934A>G (p.Asp645Gly)	CDH23	Jul 01, 2017	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71682520	GGCTGATTTATCTGACGGTCATGGCCATGGATGCTGGCAACCCCCCTCTCAACAGCACCGT
180177219	200493	NM_000030.2(AGXT):c.424-2A>G (p.Gly_142Gln145del)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240871347	AGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCT
116807569	21664	NM_006412.3(AGPAT2):c.589-2A>G	AGPAT2	Dec 08, 2016	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline	9	136674809	GCTGCCTCAGCTGTGCGTCTCCCTGCCTGCAGGTGCCCATCGTCCCCGTGGTGTACTCTTC
104894870	25721	NM_000266.3(NDP):c.131A>G (p.Tyr44Cys)	NDP	Oct 01, 1992	MedGen:C0266526,OMIM:310600,SNOMED CT:15228007	Atrophia bulborum hereditaria	germline	X	43958515	CGGACCCTCGACGCTGCATGAGGCACCACTATGTGGATTCTATCAGTCACCCATTGTACAA
886039545	259941	NM_033022.3(RPS24):c.1A>G (p.Met1Val)	RPS24	Jun 20, 2017	Human Phenotype Ontology:HP:0004810,MedGen:C1260899,Orphanet:ORPHA124,SNOMED CT:88854002;MedGen:CN517202	Diamond-Blackfan anemia;not provided	germline	10	78033902	TCCTTGGCTGTCTGAAGATAGATCGCCATCATGGTGAGTCTCCCTGGGCCCGTGCAGTCAT
368386747	359429	NM_000348.3(SRD5A2):c.377A>G (p.Gln126Arg)	SRD5A2	Mar 26, 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	31533671	CTGCCTTCTGCACTGGAAATGGAGTCCTTCAAGGCTACTATCTGATTTACTGTGCTGAATA
753248521	245973	NM_000527.4(LDLR):c.1070A>G (p.Glu357Gly)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111523	GCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCT
397515551	76587	NM_004595.4(SMS):c.443A>G (p.Gln148Arg)	SMS	Jun 27, 2013	MedGen:C0796160,OMIM:309583,Orphanet:ORPHA3063	Snyder Robinson syndrome	inherited;maternal	X	21977174	AAGTGGTATATGACGAAGATTCACCTTATCAAAATATAAAAATTCTACACTCGAAGCAGTT
121918558	28266	NM_000055.3(BCHE):c.467A>G (p.Tyr156Cys)	BCHE	Nov 01, 1997	MedGen:C1283400,OMIM:177400,Orphanet:ORPHA132,SNOMED CT:360589003	Deficiency of butyrylcholine esterase	germline	3	165830567	TTCAAACTGGAACATCATCTTTACATGTTTATGATGGCAAGTTTCTGGCTCGGGTTGAAAG
367543053	51263	NM_000257.3(MYH7):c.5807A>G (p.Ter1936Trp)	MYH7	Apr 11, 2013	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007	Congenital myopathy with fiber type disproportion	not provided	14	23412855	TTTCCTTTCAAAAGGGCTTGAATGAGGAGTAGCTTTGCCACATCTTGATCTGCTCAGCCCT
121912968	32076	NM_004004.5(GJB2):c.218A>G (p.His73Arg)	GJB2	Apr 17, 1999	MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202	Keratoderma palmoplantar deafness	germline	13	20189364	TGTGCTACGATCACTACTTCCCCATCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTT
121909571	33081	NM_000488.3(SERPINC1):c.655A>G (p.Asn219Asp)	SERPINC1	Dec 01, 1994	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173910861	GAAAATGCAGAGCAATCCAGAGCGGCCATCAACAAATGGGTGTCCAATAAGACCGAAGGCC
1060501053	400172	NM_000138.4(FBN1):c.5672-2A>G	FBN1	Oct 26, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48446824	TTATGTTTCTTTATGGCCTTTCTTCCTACTAGACATAAATGAATGTGAAAGAGATGCCTGT
397508761	68677	NM_000492.3(CFTR):c.579+3A>G	CFTR	Apr 14, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202	Cystic fibrosis;not provided	germline	7	117534368	TTCCAACAACCTGAACAAATTTGATGAAGTATGTACCTATTGATTTAATCTTTTAGGCACT
587777788	166199	NM_004046.5(ATP5F1A):c.962A>G (p.Tyr321Cys)	ATP5F1A	May 07, 2013	MedGen:C4015062,OMIM:616045	Combined oxidative phosphorylation deficiency 22	germline	18	46087222	AAACCTATTCTGTACCATAGGCTGTTGCTTACCGTCAGATGTCTCTGTTGCTCCGCCGACC
1057517839	359531	NM_147196.2(TMIE):c.92A>G (p.Glu31Gly)	TMIE	Mar 19, 2015	MedGen:CN517202	not provided	germline	3	46701579	GCCTCGCGGGGGTTGCCGGGCAGCTGGTGGAGGTGAGGCCGCGGCACGGAGGGACTGGGGA
398124654	59851	NM_013281.3(FLRT3):c.1016A>G (p.Lys339Arg)	FLRT3	May 02, 2013	MedGen:C3808986,OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia	germline	20	14326491	TGCGTGGGCTCATGTGCCAAGCCCCAGAAAAGGTTCGTGGGATGGCTATTAAGGATCTCAA
878854950	242779	NM_007294.3(BRCA1):c.4186-2A>G	BRCA1	Mar 26, 2016	MedGen:C0677776,Orphanet:ORPHA145	Hereditary breast and ovarian cancer syndrome	germline	17	43082577	CATTTTCTTGGTGCCATTTATCGTTTTTGAAGCAGAGGGATACCATGCAACATAACCTGAT
79907212	214091	NM_005572.3(LMNA):c.899A>G (p.Asp300Gly)	LMNA	Jul 01, 2013	MedGen:C4016241	Hutchinson-Gilford progeria syndrome, atypical	germline	1	156135275	AGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCA
863225134	214239	NM_001134831.1(AHI1):c.2156A>G (p.Asp719Gly)	AHI1	Feb 10, 2016	MedGen:C1837713,OMIM:608629;MedGen:CN517202	Joubert syndrome 3;not provided	germline;unknown	6	135433137	TAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGAT
61091894	22651	NM_001320198.1(KRT86):c.340A>G (p.Asn114Asp)	KRT86	Aug 01, 1999	MedGen:C0546966,OMIM:158000,Orphanet:ORPHA573,SNOMED CT:69488000;MedGen:CN517202	Beaded hair;not provided	germline	12	52302256	CAGGAGGAGAAGGAGCAGATCAAGTCCCTCAACAGCAGGTTCGCGGCCTTCATCGACAAGG
878853256	39228	NM_001197181.1(TUBB3):c.751A>G (p.Met251Val)	TUBB3	Nov 15, 2010	MedGen:C3279670,OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	germline	16	89935418	GTGGCCACCGTGTTCCGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCA
750798165	427506	NM_001009944.2(PKD1):c.1583A>G (p.Tyr528Cys)	PKD1	Jul 26, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	16	2116856	ACACCGACCTGTGCTCAGCGCCGCACAGCTACGTCTGCGAGCTGCAGCCCGGAGGTGTGCG
72558478	103268	NM_000531.5(OTC):c.988A>G (p.Arg330Gly)	OTC	Nov 16, 2015	MedGen:CN517202	not provided	germline;unknown	X	38411982	CGATCACTAGTGTTCCCAGAGGCAGAAAACAGAAAGTGGACAATCATGGTAAGCAAGAAAC
267608464	165862	NM_004992.3(MECP2):c.378-2A>G	MECP2	Apr 10, 2002	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:CN517202	Rett syndrome;not provided	de novo;unknown	X	154031452	TGTTCCTTGTGTCTTTCTGTTTGTCCCCACAGTCCCCAGGGAAAAGCCTTTCGCTCTAAAG
137853237	29969	NM_000545.6(HNF1A):c.365A>G (p.Tyr122Cys)	HNF1A	Apr 01, 1997	MedGen:C1838100,OMIM:600496	Maturity-onset diabetes of the young, type 3	germline	12	120988871	CGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGA
147394623	39666	NM_024887.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS	Oct 18, 2016	MedGen:C3151227,OMIM:613861	Retinitis pigmentosa 59	germline;unknown	1	26438228	ATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACT
879254864	246101	NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113416	TGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTG
794728111	197038	NM_004415.3(DSP):c.1141-2A>G	DSP	Feb 04, 2014	MedGen:CN517202	not provided	germline	6	7567779	GTTCATTCACTGATCACTCTCATCCTTCACAGTTTTTTGAAGAGGCGCAGTCTACTGAAGC
987233144	404655	NM_015318.3(ARHGEF18):c.334A>G (p.Thr112Ala)	ARHGEF18	Apr 07, 2017	MedGen:CN241844,OMIM:617433	Retinitis pigmentosa 78	germline	19	7444215	GCCGTCTGTGTCCCTGCAGAGCTGATGCAGACAGAGGTGCACCACGTGCGGACGCTCAAGA
-1	424456	NM_171825.2(CAMK2A):c.845A>G (p.His282Arg)	CAMK2A	Dec 07, 2017	Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:CN677078,OMIM:617798	Intellectual disability;MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	de novo;germline	5	150250281	AGCACCGCTCCACCGTGGCATCCTGCATGCACAGACAGGAGACCGTGGACTGCCTGAAGAA
753520553	358436	NM_000263.3(NAGLU):c.419A>G (p.Tyr140Cys)	NAGLU	Nov 04, 2016	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008	Mucopolysaccharidosis, MPS-III-B	unknown	17	42537433	GCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACTGGGCCCGCTG
267607502	77332	NM_002055.4(GFAP):c.1097A>G (p.Tyr366Cys)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911266	AGCTGGCCCTGGACATCGAGATCGCCACCTACAGGAAGCTGCTAGAGGGCGAGGAGAACCG
387906889	39384	NM_006796.2(AFG3L2):c.1847A>G (p.Tyr616Cys)	AFG3L2	May 21, 2015	MedGen:C3280977,OMIM:614487,Orphanet:ORPHA313772;MedGen:CN517202	Spastic ataxia 5, autosomal recessive;not provided	germline	18	12340334	CTCAGTATTTACCAAAAGAACAATACCTCTATACCAAAGAGCAGCTCTTGGATAGGATGTG
397507842	66731	NM_000059.3(BRCA2):c.632-2A>G	BRCA2	Feb 18, 2016	MedGen:C2675520,OMIM:612555;MedGen:CN517202	Breast-ovarian cancer, familial 2;not provided	germline	13	32329441	ATATACAATACACATAAATTTTTATCTTACAGTCAGAAATGAAGAAGCATCTGAAACTGTA
72556283	103127	NM_000531.5(OTC):c.527A>G (p.Tyr176Cys)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401415	TGTACCATCCTATCCAGATCCTGGCTGATTACCTCACGCTCCAGGTTGGTTTATTTATTTG
147391618	39869	NM_020320.4(RARS2):c.35A>G (p.Gln12Arg)	RARS2	Aug 01, 2010	MedGen:C1969084,OMIM:611523,Orphanet:ORPHA166073	Pontocerebellar hypoplasia type 6	germline	6	87589923	CGTGCGGCTTTCGCCGCGCTATTGCTTGCCAGGTATGGATCCCGGAGCGCGCAGAGGAGTC
515726157	131994	NM_021625.4(TRPV4):c.1772A>G (p.Tyr591Cys)	TRPV4	Apr 02, 2014	MedGen:C0027868,Orphanet:ORPHA68381;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Neuromuscular Diseases;Skeletal dysplasia	germline	12	109792704	CCCTGGTCCTGGGCTGGATGAATGCCCTTTACTTCACCCGTGGGCTGAAGCTGACGGGGAC
387906894	39407	NM_006587.3(CORIN):c.949A>G (p.Lys317Glu)	CORIN	Mar 21, 2012	MedGen:C3281288,OMIM:614595	Preeclampsia/eclampsia 5	germline	4	47683803	AGCGAGAATCTGTTTCACTGTCACACAGGCAAGTGCCTTAATTACAGCCTTGTGTGTGATG
137852459	25349	NM_000132.3(F8):c.6371A>G (p.Tyr2124Cys)	F8	Nov 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154896135	GCCTCTACATCTCTCAGTTTATCATCATGTATAGTCTTGATGGGAAGAAGTGGCAGACTTA
104894448	22030	NM_002408.3(MGAT2):c.952A>G (p.Asn318Asp)	MGAT2	Nov 01, 2000	MedGen:C0349654,OMIM:212066,SNOMED CT:277894008	Carbohydrate-deficient glycoprotein syndrome type II	germline	14	49622220	GATGTGAAAACTTGGAAATCCACAGAGCACAATATGGGTCTAGCCTTGACCCGGAATGCCT
886041314	263985	NM_153818.1(PEX10):c.1A>G (p.Met1Val)	PEX10	Nov 25, 2015	MedGen:CN517202	not provided	germline	1	2412502	GGCTGCTCGGGACCACCCGAACCCGCGGCCATGGCCCCGGCCGCCGCCAGCCCCCCGGAGG
886044220	273836	NM_000214.2(JAG1):c.1395+3A>G	JAG1	Jul 18, 2016	MedGen:C1956125,OMIM:118450	Alagille syndrome 1	germline	20	10649058	CCAGTGTCAGAATGACGCCTCCTGTCGGGTATGTAAATCTTTGCTTAAATCAAAACTTTGA
121908383	20338	NM_001128425.1(MUTYH):c.1241A>G (p.Gln414Arg)	MUTYH	Oct 11, 2011	Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007	Neoplasm of stomach	somatic	1	45331502	TCCCGTCCGTGACCTGGGAGCCCTCAGAGCAGCTTCAGCGCAAGGCCCTGCTGCAGGAACT
869320716	227442	NM_001129820.1(SLFN14):c.652A>G (p.Lys218Glu)	SLFN14	Apr 22, 2016	MedGen:C4310797,OMIM:616913,Orphanet:ORPHA466806	Platelet-type bleeding disorder 20	germline	17	35557411	ACACATGTTGAATTTAAAAGGTTCACCACCAAAAAAGTCATACCTCGGATTAAGGAAATGC
1057517972	360304	NM_000137.2(FAH):c.1A>G (p.Met1Val)	FAH	Dec 07, 2016	MedGen:CN517202	not provided	germline	15	80153055	GGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCG
1114167472	419829	NM_130799.2(MEN1):c.784-2A>G	MEN1	Nov 05, 2012	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	64807221	CGTGGCTCATAACTCTCTCCTTCGGCTCCTAGAAGCTGCTCTGGCTGCTCTATGACCTGGG
45517246	58942	NM_000548.4(TSC2):c.2546-2A>G	TSC2	Oct 27, 2014	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2075797	GGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGG
76151804	44528	NM_000492.3(CFTR):c.3140-26A>G	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117611555	AAATTACATTTTGTGTTTATGTTATTTGCAATGTTTTCTATGGAAATATTTCACAGGCAGG
772130004	432175	NM_000444.5(PHEX):c.1763A>G (p.Asn588Ser)	PHEX	Oct 31, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22219098	TCGGACATGAATTTACACATGGATTTGATAATAATGGTAAGTACCGGTTCATTTTATAAGC
587781339	150594	NM_000535.6(PMS2):c.904-2A>G	PMS2	Feb 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1838333,OMIM:614337;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome	germline;unknown	7	5992059	TTATTCTTTTCTACTCCTTGTATTTTGTGCAGGTCTGCAGACTCGTGAATGAGGTCTACCA
869312884	226599	NM_006060.5(IKZF1):c.500A>G (p.His167Arg)	IKZF1	Aug 25, 2016	MedGen:C4225173,OMIM:616873,Orphanet:ORPHA317473	Immunodeficiency, common variable, 13	germline	7	50382618	AGGGCAACCTGCTCCGGCACATCAAGCTGCATTCCGGGGAGAAGCCCTTCAAATGCCACCT
193922746	70489	NM_000540.2(RYR1):c.97A>G (p.Lys33Glu)	RYR1	Sep 02, 2008	MedGen:C1840365,Orphanet:ORPHA99741;MedGen:CN517202	King Denborough syndrome;not provided	germline;unknown	19	38440796	TGCAGCGCTACCGTGCTCAAGGAGCAGCTCAAGCTCTGCCTGGCCGCCGAGGGCTTCGGCA
104894765	26509	NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys)	BMP15	Jul 01, 2004	MedGen:C1845294,OMIM:300510	Ovarian dysgenesis 2	germline	X	50916132	CATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAA
121913246	28924	NM_001127500.2(MET):c.3743A>G (p.Tyr1248Cys)	MET	May 13, 2016	Human Phenotype Ontology:HP:0030731,MeSH:D002277,MedGen:C0007097;MedGen:C1378703;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009	Carcinoma;Kidney Carcinoma;Neoplasm;Renal cell carcinoma, papillary, 1	germline;somatic	7	116783360	TTGCTGATTTTGGTCTTGCCAGAGACATGTATGATAAAGAATACTATAGTGTACACAACAA
121913145	29732	NM_000208.3(INSR):c.707A>G (p.His236Arg)	INSR	Sep 05, 2014	MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005	Leprechaunism syndrome	germline	19	7184583	ACGGCTGCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCC
587776923	48097	NM_001313726.1(ANO3):c.2236A>G (p.Ser746Gly)	ANO3	Dec 07, 2012	MedGen:C3554374,OMIM:615034,Orphanet:ORPHA420485	Dystonia 24	germline	11	26639153	TGCTCTTATGTTCTATTTCAGTGTCATCCTAGTGGCTGTTTGATAGACCTCTGCCTCCAGA
121909631	31326	NM_023110.2(FGFR1):c.1121A>G (p.Tyr374Cys)	FGFR1	Feb 01, 2005	MedGen:C0432283,OMIM:166250,Orphanet:ORPHA2645,SNOMED CT:254144002	Osteoglophonic dysplasia	germline	8	38419696	AGAGGCCGGCAGTGATGACCTCGCCCCTGTACCTGGAGATCATCATCTATTGCACAGGGGC
869312840	226616	NM_001895.3(CSNK2A1):c.593A>G (p.Lys198Arg)	CSNK2A1	Jan 31, 2017	MedGen:C4310739,OMIM:617062;MedGen:CN517202	Okur-chung neurodevelopmental syndrome;not provided	germline	20	492282	ATAATGTCCGAGTTGCTTCCCGATACTTCAAAGGTCCTGAGCTACTTGTAGACTATCAGGT
1085307685	415809	NM_000044.4(AR):c.2248A>G (p.Met750Val)	AR	Apr 12, 2017	MedGen:CN517202	not provided	germline	X	67717552	TACTCCTGGATGGGGCTCATGGTGTTTGCCATGGGCTGGCGATCCTTCACCAATGTCAACT
398123030	70514	NM_001003800.1(BICD2):c.2321A>G (p.Glu774Gly)	BICD2	Dec 06, 2016	MedGen:C3809049,OMIM:615290,Orphanet:ORPHA363454;MedGen:CN517202	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant;not provided	germline	9	92715401	TGCAGCGGCAGCTGGCGGCTGCTGAGGACGAGAAGAAGACGCTGAACTCGCTGCTGCGCAT
483352695	106675	NM_000546.5(TP53):c.736A>G (p.Met246Val)	TP53	Oct 28, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;not provided	germline;somatic	17	7674227	TACATGTGTAACAGTTCCTGCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCATCA
756751089	199854	NM_013254.3(TBK1):c.1201A>G (p.Lys401Glu)	TBK1	Jul 01, 2015	MedGen:C4225325,OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	germline	12	64485466	ATTTTACTTCATATTTCAGTTTCCCTCCCTAAAGTACATCCACGTTATGATTTAGACGGGG
1064796799	406779	NM_005654.5(NR2F1):c.1A>G (p.Met1Val)	NR2F1	Mar 09, 2017	MedGen:CN517202	not provided	germline	5	93585024	CTCCCCCCAGCGCTCCCCGGGCCCAAAGATATGGCAATGGTAGTTAGCAGCTGGCGAGATC
386833693	21501	NM_001003722.1(GLE1):c.433-10A>G	GLE1	Feb 01, 2008	MedGen:C2678471,OMIM:611890,Orphanet:ORPHA53696;MedGen:C1854664,OMIM:253310,Orphanet:ORPHA1486	Lethal arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1	germline	9	128522658	TCCATCTTAAAAAAAAAAAAAAAAAAAAAAACCTTTTCAGGAGGGCCTGAGGCTATGGCAG
774515747	23794	NM_000338.2(SLC12A1):c.724+4A>G	SLC12A1	Oct 01, 2009	MedGen:C1866495,OMIM:601678	Bartter syndrome, type 1, antenatal	germline	15	48226575	TAGCAACTAACGGGTTTGTTCGTGGAGGTAAAATCTCTAAGATATCTAATGCCCTCATCAC
397514757	75601	NM_005689.3(ABCB6):c.508A>G (p.Ser170Gly)	ABCB6	Sep 01, 2013	MedGen:C3809394,OMIM:615402	Dyschromatosis universalis hereditaria 3	germline	2	219218166	GCTGAGAACTTGGCCCTGGTGTCTTGGAACAGCCCACAGTGGTGGTGGGCAAGGGCAGACT
118204012	16713	NM_000785.3(CYP27B1):c.566A>G (p.Glu189Gly)	CYP27B1	Mar 01, 2013	MedGen:C0268689,OMIM:264700,Orphanet:ORPHA289157,SNOMED CT:67049004	Vitamin D-dependent rickets, type 1	germline	12	57765320	CGCCCGCCCTGGTTCGGGACGTGGCGGGGGAATTTTACAAGTTCGGACTGGAAGGTGAGTC
397507501	48952	NM_002834.4(PTPN11):c.124A>G (p.Thr42Ala)	PTPN11	Jun 23, 2016	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	12	112446385	AGGCCTAGTAAAAGTAACCCTGGAGACTTCACACTTTCCGTTAGGTAAGTTGGAATGAAAA
104894478	23347	NM_005982.3(SIX1):c.386A>G (p.Tyr129Cys)	SIX1	Sep 24, 2015	MedGen:C1842124,OMIM:608389;MedGen:C0265234,OMIM:113650,Orphanet:ORPHA107,SNOMED CT:290006;MedGen:CN517202	Branchiootic syndrome 3;Melnick-Fraser syndrome;not provided	germline	14	60648804	GCACCATCTGGGACGGCGAGGAGACCAGCTACTGCTTCAAGGAGAAGTCGAGGGGTGTCCT
121908184	19530	NM_020451.2(SELENON):c.1A>G (p.Met1Val)	SELENON	Jun 26, 2015	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002;MedGen:CN517202	Eichsfeld type congenital muscular dystrophy;not provided	germline	1	25800231	GGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGC
267607005	15311	NM_001134363.2(RBM20):c.1909A>G (p.Ser637Gly)	RBM20	Sep 01, 2009	MedGen:C2750995,OMIM:613172	Dilated cardiomyopathy 1DD	germline	10	110812306	AGATATGGCCCAGAAAGGCCGCGGTCTCGTAGTCCGGTGAGCCGGTCACTCTCCCCGAGGT
398123062	76996	NM_012160.4(FBXL4):c.1694A>G (p.Asp565Gly)	FBXL4	Aug 10, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98875423	CATGTAATTGTACCAGGTTACAGCAGCTGGACATATTAGGTAAGGTTACAATATATAAATT
587783835	169995	NM_000252.2(MTM1):c.550A>G (p.Arg184Gly)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641290	TCCTCACAGGGCTTGCCCAATCACCATTGGAGAATAACTTTTATTAATAAGTGCTATGAGC
397514599	48401	NM_033109.4(PNPT1):c.1424A>G (p.Glu475Gly)	PNPT1	Nov 02, 2012	MedGen:C1824925,OMIM:614934	Deafness, autosomal recessive 70	germline	2	55656148	ATTTTCCTTTCACCATAAGAGTTACATCTGAAGTCCTAGAGTCAAATGGTATGGTATTGAA
925822435	485842	NM_000044.4(AR):c.2117A>G (p.Asn706Ser)	AR	Nov 16, 2001	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67711633	ACTCCTTTGCAGCCTTGCTCTCTAGCCTCAATGAACTGGGAGAGAGACAGCTTGTACACGT
794727890	195826	NM_004006.2(DMD):c.10554-2A>G	DMD	May 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	31147520	TTTTTTCTTTTTTACTTTTTTGATGCCAATAGGAATCTGCAAGCAGAATATGACCGTCTAA
869312136	214051	NM_000169.2(GLA):c.98A>G (p.Asp33Gly)	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	101407806	CCTGGGACATCCCTGGGGCTAGAGCACTGGACAATGGATTGGCAAGGACGCCTACCATGGG
786200859	15415	NM_000308.3(CTSA):c.746+3A>G	CTSA	Jul 14, 2016	MedGen:C0268233,OMIM:256540,Orphanet:ORPHA351,SNOMED CT:35691006;MedGen:CN068413	Combined deficiency of sialidase AND beta galactosidase;Galactosialidosis, adult	germline	20	45893314	CCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGG
121913147	29734	NM_000208.3(INSR):c.1466A>G (p.Asn489Ser)	INSR	Jul 01, 1990	MedGen:C0271690,OMIM:610549,SNOMED CT:9859006	Insulin-resistant diabetes mellitus AND acanthosis nigricans	germline	19	7170554	AGGAGAGAAACGACATTGCCCTGAAGACCAATGGGGACCAGGCATCCTGTAAGTCACTGGT
121908258	17378	NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys)	CHST14	Oct 04, 2017	MedGen:C1866294,OMIM:601776;MedGen:CN517202	Ehlers-Danlos syndrome, musculocontractural type;not provided	germline	15	40472091	ACCACCTGTGCCAGCCTTGTGCCGTGCACTATGACTTTGTGGGCTCCTATGAGAGGCTGGA
137853169	25595	NM_000351.5(STS):c.1331A>G (p.His444Arg)	STS	Aug 15, 1997	MedGen:C0079588,OMIM:308100,Orphanet:ORPHA281210,SNOMED CT:72523005	X-linked ichthyosis with steryl-sulfatase deficiency	germline	X	7334060	GCCAACGCTCCGATCATGAGTTTCTCTTCCATTACTGCAACGCCTACTTAAATGCTGTGCG
-1	433320	NM_000132.3(F8):c.1589A>G (p.Tyr530Cys)	F8	Oct 28, 2016	MedGen:CN169374	not specified	germline	X	154957120	TTCCAATTCTGCCAGGAGAAATATTCAAATATAAATGGACAGTGACTGTAGAAGATGGGCC
267606782	26211	NM_000117.2(EMD):c.1A>G (p.Met1Val)	EMD	Apr 22, 2016	MedGen:CN069573,Orphanet:ORPHA98863;MedGen:CN517202	Emery-Dreifuss muscular dystrophy, X-linked;not provided	germline	X	154379485	GCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCG
312262726	49696	NM_025137.3(SPG11):c.1457-2A>G	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44649013	TTTGTTAAAGCTAACTTTTATTTTTCCTATAGAGAATGGACTCTCTCTGATTTTGTTTGGT
879255704	247722	NM_014191.3(SCN8A):c.3979A>G (p.Ile1327Val)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558;MedGen:CN517202	Early infantile epileptic encephalopathy 13;not provided	germline	12	51786578	GTGAATGCCTTGGTGGGCGCCATCCCCTCCATCATGAATGTGCTGCTGGTGTGTCTCATCT
72556289	103135	NM_000531.5(OTC):c.541-2A>G	OTC	-	MedGen:CN517202	not provided	unknown	X	38403616	GGATTTCATCTCCTTCATCCCGTGCCTTTTAGGAACACTATAGCTCTCTGAAAGGTCTTAC
1057517848	360327	NM_000267.3(NF1):c.2325+3A>G	NF1	Jul 08, 2015	MedGen:CN517202	not provided	germline	17	31227294	TGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAG
137852295	25580	NM_000292.2(PHKA2):c.565A>G (p.Lys189Glu)	PHKA2	Apr 01, 1998	MedGen:C2748941	Glycogen storage disease IXa2	germline	X	18945131	CAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATG
267607883	95461	NM_000249.3(MLH1):c.1990-2A>G	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline;unknown	3	37048902	CTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGTTT
72551320	76735	NM_000784.3(CYP27A1):c.1061A>G (p.Asp354Gly)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218814064	TGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGA
1057517649	359018	NM_006412.3(AGPAT2):c.183-2A>G	AGPAT2	Dec 08, 2016	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline	9	136677558	GGGACCCGTGTTCATGGTGGCCTCCCCTGCAGCATCATCGGCTGGTTCGTGCGAAGCTTCA
1057519041	361716	NM_000141.4(FGFR2):c.940-2A>G	FGFR2	Dec 13, 2016	MedGen:CN231480;MedGen:C1863356,OMIM:101600	FGFR2 related craniosynostosis;Pfeiffer syndrome	germline	10	121517465	TAGCCTTTTCTTTTGCTTCCCTTGTTTTCTAGGCCGCCGGTGTTAACACCACGGACAAAGA
80356584	21173	NM_194248.2(OTOF):c.766-2A>G	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	germline	2	26495075	TTCCTTCTGGCTCCCCCTTCTCCTGCCTGCAGGTCAGCATCACGGTGATCGAGGCCCGGCA
121908512	20703	NM_014946.3(SPAST):c.1322A>G (p.Asp441Gly)	SPAST	Oct 01, 2000	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline	2	32136877	ATTAAAGTCTTATACTTGTATTTCCTCTAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAG
397507917	262833	NM_000059.3(BRCA2):c.7436-2A>G	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32356426	TTTATTTTTGCTAAGTATTTATTCTTTGATAGATTTAATTACAAGTCTTCAGAATGCCAGA
1060501093	400144	NM_000138.4(FBN1):c.7331A>G (p.Asp2444Gly)	FBN1	Dec 23, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48425491	CACAGTCACGCTGTATTTCTTTGATCATAGATCTGAACGAGTGCAACCAGGCTCCCAAACC
755948940	247451	NM_002461.2(MVD):c.875A>G (p.Asn292Ser)	MVD	Jul 23, 2015	Gene:101101698,MedGen:C0265970,OMIM:614714,Orphanet:ORPHA79152	Porokeratosis 7, multiple types	germline	16	88655221	GGCGCATCATCCACCTGGTGCACCGCTTCAACGCCCACCACGGGGACACCAAGGTGACGCG
886039229	259257	NM_004082.4(DCTN1):c.233A>G (p.Tyr78Cys)	DCTN1	Sep 29, 2016	MedGen:C1868594,OMIM:168605,Orphanet:ORPHA178509	Perry syndrome	germline	2	74378046	AAAATGATGGAACTGTTCAAGGCAGGAAGTACTTCACTTGTGATGAAGGGCATGGCATCTT
67283833	103187	NM_000531.5(OTC):c.716A>G (p.Glu239Gly)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408794	TAACCAAGTTGGCAGAGCAGTATGCCAAAGAGGTATGCTCTTTACATGTAAAGCTATTATT
267607836	95257	NM_000249.3(MLH1):c.1559-2A>G	MLH1	Jul 06, 2017	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:CN517202	Lynch syndrome;Lynch syndrome II;not provided	germline;unknown	3	37040184	CCTGTTTTTTGGTTTTATTTTTTGTTTTGCAGTTCTCCGGGAGATGTTGCATAACCACTCC
370087266	481858	NM_016042.3(EXOSC3):c.475-12A>G	EXOSC3	Dec 20, 2017	MedGen:CN517202	not provided	germline	9	37782149	GTTTGCTGAGAGGAAATGAACTGGTTTTTAATATCATTGTAGGTTGGAGATCTCATCTATG
132630303	26093	NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys)	MTM1	Jun 01, 1997	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150657957	CCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCGAAATACTGGT
863225430	214762	NM_182896.2(ARL13B):c.257A>G (p.Tyr86Cys)	ARL13B	May 01, 2015	MedGen:C2676771,OMIM:612291	Joubert syndrome 8	germline	3	94003785	TAAGAATTCGGGGAATCTGGAAGAATTACTATGCTGAATCCTATGGGGTAATATTTGTTGT
121909058	22053	NM_005422.2(TECTA):c.5609A>G (p.Tyr1870Cys)	TECTA	May 01, 1998	MedGen:C1832187,OMIM:601543	Deafness, autosomal dominant 12	germline	11	121168076	TTCTGCAGTCCAATGGCACGCATATCATGTATAAAAACACACTCTGGATCGAAAGCGCCAA
121434465	24640	m.4317A>G	MT-TI	May 09, 2003	MedGen:C4016612	Cardiomyopathy, fatal infantile	germline	MT	4317	ACTTTGATAGAGTAAATAATAGGAGCTTAAACCCCCTTATTTCTAGGACTATGAGAATCGA
879254097	245182	NM_000166.5(GJB1):c.239A>G (p.Gln80Arg)	GJB1	Dec 22, 2016	MedGen:CN118851;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;not provided	germline	X	71223946	CCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCT
104886192	35895	NM_000495.4(COL4A5):c.2692A>G (p.Met898Val)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108621817	TTGATATTCTTCAAAGGTACCAAAGGTGAAATGGGTATGATGGGACCTCCAGGCCCACCAG
281865023	46971	NM_024312.4(GNPTAB):c.118-2A>G	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101796764	GCGAAGAAAACGTTTCTTTTTCTTTGTTCTAGGTGGTTCTGGAATGGAGCCGAGATCAATA
587777809	17571	NM_144596.3(TTC8):c.115-2A>G	TTC8	May 14, 2010	MedGen:C3150715,OMIM:613464	Retinitis pigmentosa 51	germline	14	88833691	AAACTGTTTACTGCCTTCTTAATGCTTTCCAGGAACCAGATCCTGAATTGCCAGTGCATCA
80356634	24146	NM_000352.4(ABCC8):c.215A>G (p.Asn72Ser)	ABCC8	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	germline	11	17474961	ACAGCACATGGCTTCATTTCCCTGGGCACAACCTGCGGTGGATCCTGACCTTCATGCTGCT
312262818	49525	NM_003611.2(OFD1):c.260A>G (p.Tyr87Cys)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13736626	TAGTGGCAGATCACTTACAAAGATGTGGCTATGAATATTCACTTTCTGTTTTCTTTCCAGA
727504426	175345	NM_005188.3(CBL):c.1228-2A>G	CBL	Nov 28, 2016	Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN517202	Juvenile myelomonocytic leukemia;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;not provided	germline;somatic	11	119278508	GCATCTGTTACTATCTTTTGCTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTG
397518039	57766	NM_206933.2(USH2A):c.8559-2A>G	USH2A	Oct 03, 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	1	215877882	ATCCTGATGTTCCTGCTTGTCTTTTGCTTTAGATATGAGCTTCTGAGACGTAAAATCCAGC
587779602	107063	NM_000090.3(COL3A1):c.997-2A>G (p.Gly333_Lys350del+)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188992885	AGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGG
397516330	52499	NM_000260.3(MYO7A):c.6439-2A>G	MYO7A	Jul 07, 2011	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77213858	CGTGCCTCTCTATGCCCTTTCTGCTCCCCCAGGATATCCTCACCACTCATCCCTTCACCAA
10800598	417645	NR_040073.1(MIR181A1HG):n.363+26A>G	MIR181A1HG	-	MedGen:C1879321,Orphanet:ORPHA98834	Acute myeloid leukemia with maturation	germline	1	198900385	TTAAGGTACGTCATTTCTTTTAGTTCAATCAAAGTGCTTTGCTGTTTCCATTTCAGAGAAT
794728280	197590	NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys)	FBN1	Aug 25, 2017	MedGen:CN229799;MedGen:CN517202	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;not provided	germline	15	48415671	ACAAGTGCATGTGTCCCGCCGGCTTCCAGTATGAACAGTTCAGTGGAGGATGCCAAGACAT
-1	433146	NM_000138.4(FBN1):c.1961-2A>G	FBN1	Dec 29, 2016	MedGen:CN169374	not specified	germline	15	48503941	CAGTGTGATGACAGATGCTTCTTCCTGTTTAGACACACACATGCGGAGCACATGCTATGGT
387906743	38989	NM_001376.4(DYNC1H1):c.2909A>G (p.Tyr970Cys)	DYNC1H1	May 29, 2012	MedGen:C1834690,OMIM:158600,Orphanet:ORPHA209341	Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant	germline	14	101991567	ATGAGCTAAGAATAACCAATCAGGTAATCTACTTGAATCCACCAATTGAAGAGTGCAGATA
878853922	242629	NM_000267.3(NF1):c.889-2A>G	NF1	Jan 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	31200420	TATTATCTTATCGCTATATTTGAATTCTGTAGAAGTTATTTCTGGACAGTCTACGAAAAGC
1057518217	359777	NM_000368.4(TSC1):c.1998-2A>G	TSC1	Nov 04, 2016	MedGen:CN517202	not provided	germline	9	132904456	GTAACTTTGTTACTCAAAAACTTTCTTCCTAGGTTGCCTTTACCCAGCAAGTCTGTCGACT
312262780	49769	NM_025137.3(SPG11):c.6477+4A>G	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44570521	GCCCCCAGTGAGGAGTATGGGCTGGTGGTAAGTAGCCCCCTCAACCCCAGTCTCCATCCTG
-1	441810	NM_000296.3(PKD1):c.11710-2A>G	PKD1	Aug 12, 2016	MedGen:CN517202	not provided	germline	16	2091176	CCCTCCCGCCCTCCTGACCGCGCCCCCCACAGGTGTGCCTGCTGCTGTTCGCCGTGCACTT
587776888	39716	NM_020435.3(GJC2):c.-167A>G	GJC2	Jan 01, 2012	MedGen:C1837355,OMIM:608804,Orphanet:ORPHA280270	Leukodystrophy, hypomyelinating, 2	germline	1	228149860	GATTCAGACCCTGAGGCCGAGGGGGGAACAATGGGGCCCTTGAGGGCCCCTCCTCCAGCCC
111033731	36552	NM_000155.3(GALT):c.565-2A>G	GALT	Jul 19, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	unknown	9	34648332	GCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATAT
1057515577	354269	NM_000276.3(OCRL):c.238+4701A>G	OCRL	-	MedGen:C0028860,OMIM:309000,Orphanet:ORPHA534,SNOMED CT:79385002	Lowe syndrome	maternal	X	129553302	AGGTTATTGGTGAACTTAAAGCAATTTCAGATAAGTAGTGGGTGTGGAAGTCATATTGGAA
121909068	22020	NM_170695.3(TGIF1):c.838A>G (p.Thr280Ala)	TGIF1	Jun 01, 2000	MedGen:C1840528,OMIM:142946	Holoprosencephaly 4	germline	18	3457572	TTTCATTCCTGTACAGCTGGGCCAAACCCAACCCTAGGGAGGCCACTGTCTCCTAAGCCGT
775883520	212652	NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser)	TMEM67	Mar 04, 2016	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C1853153,OMIM:610688	Joubert syndrome;Joubert syndrome 6	germline;unknown	8	93780603	TTGCCATTGTTCTGTTGTAGGTATATGCCAATCTAACATCTTGTCAAGCTCTTGGAAATAT
121434391	21191	NM_004621.5(TRPC6):c.428A>G (p.Asn143Ser)	TRPC6	Jul 01, 2005	MedGen:C1858915,OMIM:603965	Focal segmental glomerulosclerosis 2	germline	11	101504541	GCCAGAATGCCCTACAGTTGGCAGTGGCCAATGAGCATCTGGAAATTACAGAACTTCTTCT
398122845	260323	NM_003688.3(CASK):c.2506-2A>G	CASK	Mar 26, 2015	MedGen:CN517202	not provided	germline	X	41524036	AGTCGGGATTTTTTTTTTTTTTCTTAACACAGGCACTGAAGGTCCTGAGAACTGCAGAGTT
58556099	77485	NM_005554.3(KRT6A):c.512A>G (p.Asn171Ser)	KRT6A	Dec 11, 2015	MedGen:C3714948,OMIM:615726;MedGen:CN517202	Pachyonychia congenita 3;not provided	germline	12	52492677	CTGAGGAGCGTGAACAGATCAAGACCCTCAACAACAAGTTTGCCTCCTTCATCGACAAGGT
1085307209	414144	NM_001204.6(BMPR2):c.338A>G (p.Tyr113Cys)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467609	CCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATG
797044727	194274	NM_000169.2(GLA):c.620A>G (p.Tyr207Cys)	GLA	May 06, 2014	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101400685	GCATTGTGTACTCCTGTGAGTGGCCTCTTTATATGTGGCCCTTTCAAAAGGTGAGATAGTG
774225566	228221	NM_001143763.1(SYCE1):c.197-2A>G	SYCE1	Jul 18, 2016	MedGen:C4310779,OMIM:616950	Spermatogenic failure 15	germline	10	133558953	CTCACACAATGTTTTTCTGCTCTTTGGTGAAGCAAAAAAGAAAGCCAATAAAGACCTAGGA
863225227	214276	NM_153704.5(TMEM67):c.769A>G (p.Met257Val)	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93780647	CAAGCTCTTGGAAATATGTGTGTGATGAACATGAATTCTTACGACTTTGCCACATTTGATG
267606639	16146	NM_000642.2(AGL):c.3439A>G (p.Arg1147Gly)	AGL	Nov 01, 2009	MedGen:C1968741	Glycogen storage disease IIIc	germline	1	99900712	CCTAATCTACTGGGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGT
879255526	247365	NM_005120.2(MED12):c.3067A>G (p.Ile1023Val)	MED12	Aug 11, 2016	MedGen:C0220769,OMIM:305450,SNOMED CT:49984004	FG syndrome	germline	X	71127978	TCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACA
483353066	143130	NM_001164342.2(ZBTB20):c.1787A>G (p.His596Arg)	ZBTB20	Aug 01, 2014	MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042	Primrose syndrome	de novo;germline	3	114350291	CTTTCACCGCCAAACAGAACTACGTCAAGCACATGTTCGTACACACAGGTGAGTGTCACCC
121908361	19861	NM_000441.1(SLC26A4):c.1105A>G (p.Lys369Glu)	SLC26A4	Feb 01, 1999	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791	Enlarged vestibular aqueduct	germline	7	107689156	GTGGCTTATGCTATTGCAGTGTCAGTAGGAAAAGTATATGCCACCAAGTATGATTACACCA
132630331	25987	NM_001205019.1(GK):c.880A>G (p.Asn294Asp)	GK	May 01, 2000	MedGen:C0268418,OMIM:307030,Orphanet:ORPHA308993,SNOMED CT:124322002	Deficiency of glycerol kinase	germline	X	30707584	AGGTATGGAACAGGATGTTTCTTACTATGTAATACAGGCCATAAGGTTGGTTTTTTAAATT
1064797084	411534	NM_002017.4(FLI1):c.1028A>G (p.Tyr343Cys)	FLI1	Apr 25, 2017	MedGen:CN242283,OMIM:617443	Bleeding disorder, platelet-type, 21	germline	11	128810657	ACAAGCTGAGCCGGGCCCTCCGTTATTACTATGATAAAAACATTATGACCAAAGTGCACGG
754080445	247508	NM_003504.4(CDC45):c.677A>G (p.Asp226Gly)	CDC45	Oct 20, 2016	MedGen:C4310738,OMIM:617063	Meier-gorlin syndrome 7	germline	22	19499124	CTTCCAGGTGGGCCATCGTTGGACTAACAGACCAGTGGGTGCAAGACAAGATCACTCAGTA
28940309	17145	NM_015335.4(MED13L):c.752A>G (p.Glu251Gly)	MED13L	Dec 09, 2003	MedGen:C1837341,OMIM:608808	Transposition of the great arteries, dextro-looped 1	germline	12	116019846	ATTTCTACCCGATGGTGCTAAAAAAGAAAGAAGAATCGAAAGAGGAAGACGAGTTGGGATA
104894278	15521	NM_000317.2(PTS):c.139A>G (p.Asn47Asp)	PTS	Jan 01, 1999	MedGen:CN068421	Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency	germline	11	112228649	TTGAAACTGTTTGGGAAATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGGTGAGA
775414124	196043	NM_017653.4(DYM):c.621-2A>G	DYM	Jan 06, 2015	MedGen:C0265286,OMIM:223800,Orphanet:ORPHA239,SNOMED CT:82699004	Dyggve-Melchior-Clausen syndrome	germline	18	49332008	ATGAGTTTGATTTTTTTTTCCTTTTTGTATAGTCTTCCATACACCAGCAAACTTGTGAAGA
786200910	23810	NM_006204.3(PDE6C):c.1483-2A>G	PDE6C	Nov 17, 2009	MedGen:C2751309	Achromatopsia 5	germline	10	93640068	TAATCTGAAACAACCCATCCTTATTTCAACAGAAAGAGGACTTGCCAGACCCACGCTCAGC
-1	424464	NM_172079.2(CAMK2B):c.901A>G (p.Lys301Glu)	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	44241702	CTGAAAAAGTTCAATGCCAGGAGAAAGCTCAAGGTGAGGCCCTGGCCCCTAGTCCCAGGCA
1135401960	424939	NM_017613.3(DONSON):c.786-22A>G	DONSON	Aug 04, 2017	MedGen:CN373593,OMIM:617604	MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES	germline	21	33583688	ACATTGCATTAAATGTTTAATAATACCTTAAGAAAATTTTTTTACTTCATAGGTCTGTGAG
137853971	15242	NM_024598.3(USB1):c.502A>G (p.Arg168Gly)	USB1	Jan 01, 2010	MedGen:C1858723,OMIM:604173,Orphanet:ORPHA221046	Poikiloderma with neutropenia	germline	16	58014325	GTAAAGATTTACACCAATCAAGAGAAAACCAGGTGGGTCCTCCCAACCCCCAATCACCATC
193922737	362588	NM_032387.4(WNK4):c.3505A>G (p.Lys1169Glu)	WNK4	Feb 16, 2017	MedGen:C1840390,OMIM:614491,Orphanet:ORPHA88939	Pseudohypoaldosteronism type 2B	germline	17	42796196	GAAATTGAAGATTTGTACAGCCGGCTGGGGAAGCAGCCCCCACCGGGTATTGTGGCCCCAG
369925690	395418	NM_138694.3(PKHD1):c.664A>G (p.Ile222Val)	PKHD1	May 30, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;unknown	6	52071009	ACTCTGCAGTGCCATGTGGAAGGCGACTACATCGGTCTGTTAGAGAAGTAACATAATTTTA
121909052	22127	NM_005025.4(SERPINI1):c.1013A>G (p.His338Arg)	SERPINI1	Jun 29, 2002	MedGen:C1858680,OMIM:604218,Orphanet:ORPHA85110	Encephalopathy, familial, with neuroserpin inclusion bodies	germline	3	167823019	ATAAGGAGATTTTTCTTTCCAAAGCAATTCACAAGTCCTTCCTAGAGGTTAATGAAGAAGG
886041880	264801	NM_000276.3(OCRL):c.2470-2A>G	OCRL	Jul 13, 2016	MedGen:CN517202	not provided	germline	X	129589843	TTCTCACTGCCTGCCCCTATTTTTAAAAACAGGTGATCTCCCAGCTTCCGAGATGCCATAG
367543262	46847	NM_000155.3(GALT):c.857A>G (p.Tyr286Cys)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649034	CCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTA
267607949	96080	NM_000251.2(MSH2):c.1277-2A>G	MSH2	Jul 19, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47445546	TTTTATTTGTTTGTTTTACTACTTTCTTTTAGGAAAACACCAGAAATTATTGTTGGCAGTT
121913274	28695	NM_006218.3(PIK3CA):c.1634A>G (p.Glu545Gly)	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: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:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003;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:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;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;MeSH:C538614,MedGen:C1336078;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;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MeSH:D002583,MedGen:CN236667	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Brainstem glioma;Carcinoma of colon;Carcinoma of esophagus;Carcinoma of gallbladder;Colorectal Neoplasms;Epidermal nevus;Glioblastoma;Hepatocellular carcinoma;Malignant melanoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Nasopharyngeal Neoplasms;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Papillary renal cell carcinoma, sporadic;Renal cell carcinoma, papillary, 1;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	179218304	CTACACGAGATCCTCTCTCTGAAATCACTGAGCAGGAGAAAGATTTTCTATGGAGTCACAG
786205818	188659	NM_000891.2(KCNJ2):c.901A>G (p.Met301Val)	KCNJ2	Jan 16, 2014	MedGen:CN517202	not provided	germline	17	70175940	GACTTTGAAATCGTGGTCATACTGGAAGGCATGGTGGAAGCCACTGCCATGACGACACAGT
1085307403	414371	NM_001204.6(BMPR2):c.2945A>G (p.Lys982Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202559774	AGAAACGTGTGAAAACTCCCTATTCTCTTAAGCGGTGGCGCCCCTCCACCTGGGTCATCTC
41293513	46697	NM_000059.3(BRCA2):c.8168A>G (p.Asp2723Gly)	BRCA2	Sep 01, 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	32363370	CCCAAAAAGTGGCCATTATTGAACTTACAGATGGGTGGTATGCTGTTAAGGCCCAGTTAGA
118192202	34646	NM_172107.3(KCNQ2):c.635A>G (p.Asp212Gly)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63444714	TCCTGCAGATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCACCTGGAAGCTGCTGGG
193929356	34056	NM_000525.3(KCNJ11):c.989A>G (p.Tyr330Cys)	KCNJ11	Feb 08, 2013	Human Phenotype Ontology:HP:0000857,MedGen:C3278636;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Neonatal insulin-dependent diabetes mellitus;Permanent neonatal diabetes mellitus	germline	11	17387103	CTGAGGAGGACGGACGTTACTCTGTGGACTACTCCAAGTTTGGCAACACCGTCAAAGTGCC
137852359	25138	NM_000132.3(F8):c.872A>G (p.Glu291Gly)	F8	May 01, 1988	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969468	CCACTCCTGAAGTGCACTCAATATTCCTCGAAGGTCACACATTTCTTGTGAGGAACCATCG
876660634	233846	NM_000314.6(PTEN):c.203A>G (p.Tyr68Cys)	PTEN	Sep 10, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	10	87925551	ATTCAAAGCATAAAAACCATTACAAGATATACAATCTGTAAGTATGTTTTCTTATTTGTAT
387906732	38957	m.5816A>G	MT-TC	Aug 28, 2007	MedGen:C4016607	Dystonia, mitochondrial	germline	MT	5816	TCTTCGAATTTGCAATTCAATATGAAAATCACCTCGGAGCTGGTAAAAAGAGGCCTAACCC
587783518	169848	NM_178151.2(DCX):c.1027-2A>G	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111301745	GAAAATTAACTTTGTCTCTTCTCTTCTTATAGGACCTGTACCTGCCTCTGTCCTTGGATGA
387906675	38804	NM_000313.3(PROS1):c.701A>G (p.Tyr234Cys)	PROS1	Jan 01, 2010	MedGen:C3281092,OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	germline	3	93900830	TTGAATGTGAATGCCCCGAAGGCTACAGATATAATCTCAAATCAAAGTCTTGTGAAGGTAG
397507452	48657	m.7443A>G	MT-TS1	Jul 03, 2014	MedGen:C3151897,OMIM:500008	Deafness, nonsyndromic sensorineural, mitochondrial	germline	MT	7443	ACATTCGAAGAACCCGTATACATAAAATCTAGACAAAAAAGGAAGGAATCGAACCCCCCAA
121918455	28366	NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser)	PTPN11	Jul 18, 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:C1860991,OMIM:609942;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202;MedGen:CN169374	Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome;Noonan syndrome 1;Noonan syndrome 1;Noonan syndrome 3;Rasopathy;not provided;not specified	de novo;germline;unknown	12	112477720	ATGAGCCTGTTTCAGATTACATCAATGCAAATATCATCATGGTAAGCTTTGCTTTTCACAG
863225050	213926	NM_001414.3(EIF2B1):c.328A>G (p.Lys110Glu)	EIF2B1	Jan 01, 2015	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	12	123630210	TTTCTCAGGAGAATATCACTGTCAAGAAACAAAATTGCAGATCTGTGCCATACTTTCATCA
72558406	103157	NM_000531.5(OTC):c.596A>G (p.Asn199Ser)	OTC	May 26, 2016	MedGen:CN517202	not provided	germline;unknown	X	38403673	TTACCCTCAGCTGGATCGGGGATGGGAACAATATCCTGCACTCCATCATGATGAGCGCAGC
397515428	48445	NM_001410.2(MEGF8):c.7099A>G (p.Ser2367Gly)	MEGF8	Nov 02, 2012	MedGen:C3554247,OMIM:614976	Carpenter syndrome 2	germline	19	42375537	TGCGCCAAGTGCCGGGAATCATTTCACGGGAGTCCGCTGGGCGGCCAGCAGTGCTACCGCC
121965078	26914	NM_000137.2(FAH):c.836A>G (p.Gln279Arg)	FAH	Dec 01, 2000	MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006	Tyrosinemia type I	germline	15	80173143	TCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCA
863224464	213018	NM_000059.3(BRCA2):c.1A>G (p.Met1Val)	BRCA2	Feb 13, 2015	MedGen:C0677776,Orphanet:ORPHA145	Hereditary breast and ovarian cancer syndrome	germline	13	32316461	CCAAGCATTGGAGGAATATCGTAGGTAAAAATGCCTATTGGATCCAAAGAGAGGCCAACAT
1057524903	380269	NM_000162.3(GCK):c.1016A>G (p.Glu339Gly)	GCK	Jun 03, 2016	MedGen:CN240909	Monogenic diabetes	germline	7	44146466	CCTTCGAGACGCGCTTCGTGTCGCAGGTGGAGAGGTGTGCGGAGGAGGAGGGTGGGTGCAA
137852262	25655	NM_000133.3(F9):c.1180A>G (p.Met394Val)	F9	Oct 09, 2017	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561865	CGATCTACAAAGTTCACCATCTATAACAACATGTTCTGTGCTGGCTTCCATGAAGGAGGTA
121434478	22849	NM_004044.6(ATIC):c.1277A>G (p.Lys426Arg)	ATIC	Jun 01, 2004	MedGen:C1837530,OMIM:608688,Orphanet:ORPHA250977	AICAR transformylase/IMP cyclohydrolase deficiency	germline	2	215344828	GAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGC
387907176	40310	NM_018105.2(THAP1):c.70A>G (p.Lys24Glu)	THAP1	Feb 01, 2012	MedGen:C1414216,OMIM:602629,Orphanet:ORPHA98806	Dystonia 6, torsion	germline	8	42843025	TACGACAAGGACAAGCCCGTTTCTTTCCACAAGTGAGGACCCTGCGCGCCTCGCGGGGCCG
886041391	264506	NM_000352.4(ABCC8):c.4308-2A>G	ABCC8	Jul 13, 2017	MedGen:CN517202	not provided	germline	11	17395277	CTCCCTACTGGGGCTTTCTGTGCCACTTCCAGATTTAACCTGGACCCTGAGAGGAAGTGCT
397514503	48045	NM_003863.3(DPM2):c.68A>G (p.Tyr23Cys)	DPM2	Jan 29, 2013	MedGen:C3554385,OMIM:615042,Orphanet:ORPHA329178	Congenital disorder of glycosylation type 1u	germline	9	127937459	TCGTCGCCGTTAGCCTGATCATCTTCACCTACTACACCGCCTGGGTGATTCTCTTGGTATG
121909763	21841	NM_032119.3(ADGRV1):c.18131A>G (p.Tyr6044Cys)	ADGRV1	Apr 01, 2009	MedGen:C1854237,OMIM:605472	Usher syndrome, type 2C	germline	5	90985501	GAATCTATCATCAGAGCATGTCACAGATCTATGGACTCATTCATGGTGACCTGTAAGTACA
137853216	31037	NM_002890.2(RASA1):c.1201A>G (p.Ile401Val)	RASA1	Nov 01, 1993	MedGen:C3838465	Basal cell carcinoma, somatic	somatic	5	87349312	CGGACCAATGAAAATATTCAGCGATTTAAAATATGTCCAACGCCAAACAATCAGTTTATGA
144143780	264874	NM_000199.3(SGSH):c.1139A>G (p.Gln380Arg)	SGSH	Mar 07, 2017	MedGen:CN517202	not provided	germline	17	80210822	TCACCATGTCCTACCCCATGCGCTCCGTGCAGCACCGGCACTTCCGCCTCGTGCACAACCT
387906264	16899	NM_022912.2(REEP1):c.183-2A>G	REEP1	Aug 01, 2006	MedGen:C1853247,OMIM:610250,Orphanet:ORPHA101011	Spastic paraplegia 31, autosomal dominant	germline	2	86254816	AACAGAACTTGTGTTTTCATCTCTCTCTCCAGGTTTCCATTCTATTATGAACTAAAAATAG
1085307244	414180	NM_001204.6(BMPR2):c.556A>G (p.Met186Val)	BMPR2	-	MedGen:CN243982	Pulmonary arterial hypertension associated with congenital heart disease	germline	2	202514914	ATAGGAGACCGTAAACAAGGTCTTCACAGTATGAACATGATGGAGGCAGCAGCATCCGAAC
397508595	68457	NM_000492.3(CFTR):c.3717+40A>G	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117627810	GAACACTGCTTGCTTTGTTAGACTGTGTTCAGTAAGTGAATCCCAGTAGCCTGAAGCAATG
118204064	16572	NM_000237.2(LPL):c.548A>G (p.Asp183Gly)	LPL	Aug 05, 1991	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19954126	GTTCCTGCTTTTTTCCCTTTTAAGGCCTCGATCCAGCTGGACCTAACTTTGAGTATGCAGA
879253805	214893	NM_000282.3(PCCA):c.878A>G (p.Gln293Arg)	PCCA	Jan 01, 2013	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100268747	TATGGCTTAATGAAAGAGAGTGCTCAATTCAGAGAAGAAATCAGAAGGTGGTGGAGGAAGC
267608671	40102	NM_007055.3(POLR3A):c.2554A>G (p.Met852Val)	POLR3A	Mar 12, 2016	MedGen:C1843200,OMIM:607694;MedGen:C1843200,OMIM:607694;MedGen:CN517202	Hypomyelinating leukodystrophy 7;Hypomyelinating leukodystrophy 7;not provided	germline	10	78000043	TTGACACCAACTGAGTTTTTCTTCCACACAATGGCCGGCCGGGAAGGTCTAGTCGACACGG
864321663	26394	NM_000061.2(BTK):c.310-2A>G	BTK	Oct 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101370081	AACTGCTGAAGTCTGTGTTTTCATCGACCCAGGTTGTATATGATGAAGGGCCTCTCTACGT
750708201	230795	NM_017950.3(CCDC40):c.940-2A>G	CCDC40	Feb 10, 2015	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	17	80050062	TCCTGGTGACCCTGTTTCTCTCTTTGGTCCAGGTTGTGGCTACCAAGCAGAGCCGAGCCCA
121908826	443319	NM_017849.3(TMEM127):c.410-2A>G	TMEM127	May 01, 2017	MedGen:CN517202	not provided	germline	2	96254117	TTCCCCTTCTGTGCTGTCCCTCTGTCTCCTAGTTCTGCAGTGTGCCACCGTCATTGGCTTT
72558492	102993	NM_000531.5(OTC):c.1034A>G (p.Tyr345Cys)	OTC	-	MedGen:CN517202	not provided	unknown	X	38421051	AGGCTGTCATGGTGTCCCTGCTGACAGATTACTCACCTCAGCTCCAGAAGCCTAAATTTTG
74435397	15929	NM_006331.7(EMG1):c.257A>G (p.Asp86Gly)	EMG1	Jun 01, 2009	MedGen:C1859405,OMIM:211180,Orphanet:ORPHA1270	Bowen-Conradi syndrome	germline	12	6974427	ATGGACGGGACCCTGGGGAAGCGCGGCCAGATATCACCCACCAGGTAACTCCAGGGACAGT
80338960	34009	NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val)	SCN4A	Jan 28, 2016	MedGen:CN074266,OMIM:170500	Hyperkalemic Periodic Paralysis Type 1	germline	17	63943006	ATGATCCTCATCTGCCTCAACATGGTCACCATGATGGTGGAGACAGACAACCAGAGCCAGC
587777705	165690	NM_007315.3(STAT1):c.1909A>G (p.Lys637Glu)	STAT1	Sep 01, 2012	MedGen:C4013950,OMIM:614892,Orphanet:ORPHA319595	Immunodeficiency 31a	germline	2	190976990	GACTTCCATGCGGTTGAACCCTACACGAAGAAAGAACTTTCTGCTGTTACTTTCCCTGACA
786204973	187577	NM_003159.2(CDKL5):c.-162-2A>G	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo	X	18506933	TTACAGCTTTTAATTGTGTTTGTTTTTTTCAGGGAGTCATTTAATACTTCATGATTAGAAC
398123066	98163	NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)	WFS1	Dec 01, 2013	MedGen:C1861826,OMIM:116400	Cataract 41	germline	4	6301180	AGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCC
121964989	27007	NM_000108.4(DLD):c.1483A>G (p.Arg495Gly)	DLD	Dec 01, 1996	MedGen:CN043137,OMIM:246900	Maple syrup urine disease, type 3	germline	7	107919212	CTTCCCTTGCAGACCTTATCAGAAGCTTTTAGAGAAGCAAATCTTGCTGCGTCATTTGGCA
587777222	125787	NM_004820.4(CYP7B1):c.889A>G (p.Thr297Ala)	CYP7B1	Nov 24, 2016	MedGen:C0037772;MedGen:C1849115,OMIM:270800,Orphanet:ORPHA100986;MedGen:CN517202	Spastic paraplegia;Spastic paraplegia 5A;not provided	germline	8	64615194	TTAGGCTTTCTCTGGGCCTCTGTGGCAAACACTATTCCAACTATGTTCTGGGCAATGTATT
80356555	32533	NM_004385.4(VCAN):c.4004-2A>G	VCAN	Jan 07, 2016	MedGen:C0339540,OMIM:143200,SNOMED CT:232064001	Wagner syndrome	germline	5	83537005	TTTAAGTATTGTGAAAACTCTGTTTTTTTCAGGTCGAATGAGTGATTTGAGTGTAATTGGT
878854424	243871	NM_020760.3(HECW2):c.4334A>G (p.Glu1445Gly)	HECW2	Jan 10, 2018	MedGen:C4310643,OMIM:617268;MedGen:CN517202	Neurodevelopmental disorder with hypotonia, seizures, and absent language;not provided	de novo;germline	2	196220113	CCAGGCTGGTATCTGTTTTTGATGCAAGAGAACTGGAATTGGTCATCGCAGGCACAGCTGA
62514891	15625	NM_000277.2(PAH):c.1A>G (p.Met1Val)	PAH	Apr 24, 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	102917130	AGCCAGAGACCTCACTCCCGGGGAGCCAGCATGTCCACTGCGGTCCTGGAAAACCCAGGCT
193929348	34050	NM_000525.3(KCNJ11):c.544A>G (p.Ile182Val)	KCNJ11	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	17387548	GCCCAAGCCCACCGCAGGGCTGAGACCCTCATCTTCAGCAAGCATGCGGTGATCGCCCTGC
121918371	28689	NM_002633.2(PGM1):c.343A>G (p.Thr115Ala)	PGM1	Feb 06, 2014	MedGen:C2752015,OMIM:614921,Orphanet:ORPHA319646	Congenital disorder of glycosylation type 1t	germline	1	63629521	AAAATCAAAGCCATTGGTGGGATCATTCTGACAGCCAGTCACAACCCAGGGGGCCCCAATG
387906764	39044	NM_007315.3(STAT1):c.494A>G (p.Asp165Gly)	STAT1	Aug 01, 2011	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	germline	2	190999673	GTATAGAGCATGAAATCAAGAGCCTGGAAGATTTACAAGATGAATATGACTTCAAATGCAA
-1	483113	NM_178170.2(NEK8):c.259A>G (p.Thr87Ala)	NEK8	Feb 14, 2018	MedGen:C3809434,OMIM:615415	Renal-hepatic-pancreatic dysplasia 2	germline	17	28734777	TCTTGATTAGTCCCTTGGGCCACAGGCGGCACTCTGGCTGAGTTCATCCAAAAGCGCTGTA
587783080	166453	NM_003159.2(CDKL5):c.404-2A>G	CDKL5	Mar 15, 2017	MedGen:CN517202	not provided	germline	X	18581889	TTACTAATTTTTTTTTTATCTTGACACTCCAGATATAAAACCAGAAAATCTCTTAATCAGC
62642934	15657	NM_000277.2(PAH):c.916A>G (p.Ile306Val)	PAH	May 22, 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	102846948	ACAGGTTCTATTTTCCCCCAATTACAGGAAATTGGCCTTGCCTCTCTGGGTGCACCTGATG
386134132	51228	NM_000096.3(CP):c.2953A>G (p.Met985Val)	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149177905	CACGTGGGAGATGAAGTCAACTGGTATCTGATGGGAATGGGCAATGAAATAGACTTACACA
587777447	141326	NM_022168.3(IFIH1):c.1009A>G (p.Arg337Gly)	IFIH1	May 01, 2014	MedGen:C3888244,OMIM:615846	Aicardi-goutieres syndrome 7	germline	2	162288221	ATCTGCCTCCCTACAGGGAGTGGAAAAACCAGAGTGGCTGTTTACATTGCCAAGGATCACT
527640350	424609	NM_000487.5(ARSA):c.674A>G (p.Tyr225Cys)	ARSA	May 01, 2017	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	unknown	22	50626844	AGCGCCAGGATCGCCCCTTCTTCCTGTACTATGCCTCTCACGTAAGTGATCTTGGCCCAAC
794726803	187874	NM_001165963.1(SCN1A):c.383+1A>G	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	inherited	2	166058569	GAAAATAGCTATTAAGATTTTGGTACATTCATATCCTTTTTCAAGTGATTAATATTAACTA
387907098	40043	NM_198994.2(TGM6):c.980A>G (p.Asp327Gly)	TGM6	Dec 01, 2010	MedGen:C3888031,OMIM:613908	Spinocerebellar ataxia 35	germline	20	2400435	TCGGGCGGACCCTGGAGGACCTGACAGAAGACAGCATGTGGTGGGTCCTGCCCCCAGCCTA
879255604	244173	NM_001711.5(BGN):c.439A>G (p.Lys147Glu)	BGN	Dec 15, 2016	MedGen:C1848097,OMIM:300106,Orphanet:ORPHA93349	Spondyloepimetaphyseal dysplasia X-linked	germline	X	153505950	CTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACC
727504333	174746	NM_000256.3(MYBPC3):c.2906-2A>G	MYBPC3	Mar 04, 2013	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	11	47334012	CCCTCACTTAGCTACCCACTCTATACCCACAGAACGGCCACGGCTTCAGCTGCCCAGGCAC
72653779	426983	NM_001171.5(ABCC6):c.1964A>G (p.Gln655Arg)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182910	GCGTGTCCAGAATAAACCTCACGGTGCCCCAGGGCTGTCTGCTGGCTGTTGTCGGTCCAGT
57590980	77365	NM_002055.4(GFAP):c.230A>G (p.Asn77Ser)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915257	CCAGTGAGCGGGCAGAGATGATGGAGCTCAATGACCGCTTTGCCAGCTACATCGAGAAGGT
137853321	26489	NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp)	IKBKG	Mar 01, 2001	MedGen:C1845919,OMIM:300301,Orphanet:ORPHA69088;MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:367520004	Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema;Incontinentia pigmenti syndrome	germline	X	154564460	TGCAGATACATGTCATGGAGTGCATTGAGTAGGGCCGGCCAGTGCAAGGCCACTGCCTGCC
199474790	242679	NM_000267.3(NF1):c.4255A>G (p.Lys1419Glu)	NF1	Feb 17, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31258488	AAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATA
121918170	16000	NM_000275.2(OCA2):c.1465A>G (p.Asn489Asp)	OCA2	Nov 16, 2016	MedGen:C0268495,OMIM:203200,Orphanet:ORPHA79432,SNOMED CT:26336006;MedGen:CN517202	Tyrosinase-positive oculocutaneous albinism;not provided	germline	15	27983383	GGAGCTGCCACTGCCATCGGGGACCCTCCAAATGTCATTATTGTTTCCAACCAAGAGCTGA
1057519519	362307	NM_001005463.2(EBF3):c.422A>G (p.Tyr141Cys)	EBF3	Feb 07, 2017	MedGen:C4310618,OMIM:617330	Hypotonia, ataxia, and delayed development syndrome	germline	10	129958997	TCTGCTTGTCCCTCGCGCAGGCCATCGTCTACGAGGGCCAGGACAAGAACCCGGAGATGTG
1085307332	414285	NM_001204.6(BMPR2):c.1277-8A>G	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202542303	GAAATTTTATTCTGTCATTCTTTTCTACAAATCCACAGGGGAATCCGTACCAGAGTACCAG
386134250	45187	NM_000244.3(MEN1):c.1A>G (p.Met1Val)	MEN1	Mar 30, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1;not provided;not specified	germline	11	64810109	CTTGCAGGCCGCCGCCCACCGCCCGCCGCCATGGGGCTGAAGGCCGCCCAGAAGACGCTGT
1057516104	354000	NM_172107.3(KCNQ2):c.1024-2A>G	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63433905	CCTCGCCAACTGCCTTGTCTTTCCCTCCGCAGTCGGCCTGGAGATTCTACGCCACCAACCT
587779670	107170	NM_000090.3(COL3A1):c.997-10A>G (p.Pro332_Gly333insFFQ)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188992877	GTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGA
587777237	125815	NM_198947.3(FAM111B):c.1879A>G (p.Arg627Gly)	FAM111B	May 05, 2016	MedGen:C3810325,OMIM:615704,Orphanet:ORPHA221043	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	germline	11	59125976	ACCAGTAATGTATACTGTATGTTTACCCAAAGAAGTTTCCTATCAGAGGTTTGGAACACAC
-1	440145	NM_001080463.1(DYNC2H1):c.4964A>G (p.Tyr1655Cys)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	maternal	11	103168956	TGGATTCTGAATTTCAGTATACTTATGAATATCAGGTATGAGTTGTGGCAGTGTTTTATAT
398122824	48258	NM_000834.3(GRIN2B):c.2172-2A>G	GRIN2B	Dec 21, 2012	MedGen:C3151411,OMIM:613970	Mental retardation, autosomal dominant 6	germline	12	13570019	CCATTGGATTTGTTTGCTTTTTTCCTGTACAGGAAACTGGATGCCTTCATCTATGATGCAG
267606820	33457	NM_014053.3(FLVCR1):c.361A>G (p.Asn121Asp)	FLVCR1	Jan 01, 2012	MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628	Posterior column ataxia with retinitis pigmentosa	germline	1	212858813	CTCCTGATCTTCAGCCTGTACTCGCTGGTCAACGCCTTTCAGTGGATCCAGTACAGCATCA
760426025	429844	NM_001077418.2(TMEM231):c.664+4A>G	TMEM231	Jan 08, 2016	MedGen:C3809352,OMIM:615397	Meckel syndrome, type 11	germline	16	75542598	TTGTTGCTGCCTACCAGGAGAGGAACGGTGAGTCACAGGTAGAGCCCATTCAGCCGCTGCT
587779866	408216	NM_000051.3(ATM):c.7630-2A>G	ATM	Sep 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	11	108331877	TTTGCATAAATCTAATAGTTCTTTTCTTACAGCTAATCTCTAGAATTTCAATGGATCACCC
886040903	262988	NM_007294.3(BRCA1):c.213-15A>G	BRCA1	Jun 08, 2017	MedGen:C2676676,OMIM:604370;MedGen:CN517202	Breast-ovarian cancer, familial 1;not provided	germline	17	43104971	TGATAATCACTTGCTGAGTGTGTTTCTCAAACAATTTAATTTCAGGAGCCTACAAGAAAGT
879254460	245465	NM_000527.4(LDLR):c.299A>G (p.Asp100Gly)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102772	ATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGC
1064793936	410474	NM_000528.3(MAN2B1):c.2356-2A>G	MAN2B1	Aug 10, 2015	MedGen:CN517202	not provided	germline	19	12649218	ACTGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGAC
387906797	39121	NM_001184.3(ATR):c.6431A>G (p.Gln2144Arg)	ATR	Mar 09, 2012	MedGen:C3281203,OMIM:614564,Orphanet:ORPHA313846	Cutaneous telangiectasia and cancer syndrome, familial	germline	3	142469458	CTCCATATCAATTTTTGACTGCTTTTTCACAATTGATCTCTCGAATTTGTCATTCTCACGA
-1	443047	NM_002977.3(SCN9A):c.966-2A>G	SCN9A	Aug 08, 2016	MedGen:CN517202	not provided	germline	2	166293374	CTCTCACCTATAATGTTCTTTCTCGTGTGTAGTCAGTGTCCAGAGGGGTACACCTGTGTGA
878854350	204202	NM_000218.2(KCNQ1):c.1686-2A>G	KCNQ1	Mar 08, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007	Long QT syndrome;Long QT syndrome 1	germline	11	2776984	GTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCAC
879254642	362688	NM_000527.4(LDLR):c.683A>G (p.Glu228Gly)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105589	GTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGT
137852953	19115	NM_012464.4(TLL1):c.1885A>G (p.Ile629Val)	TLL1	Mar 01, 2009	MedGen:C2751315,OMIM:613087	Atrial septal defect 6	germline	4	166060066	GGTGGACTTCTTACCAAACTTAACGGCACCATAACCACCCCTGGCTGGCCCAAGGAGTACC
398124528	102370	NM_144997.5(FLCN):c.1433-2A>G	FLCN	Jul 07, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	17215092	TGCCCTTGCTCTGCCCCTGCCCTTCTCCCCAGTGGGCCCCACCATCCTGAATAAGATTGAA
863224970	213788	NM_014874.3(MFN2):c.494A>G (p.His165Arg)	MFN2	May 20, 2016	MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2A2A;not provided	germline	1	11997316	TCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGC
121909396	16354	NM_001174089.1(SLC4A11):c.2518A>G (p.Met840Val)	SLC4A11	May 01, 2007	MedGen:C1857572,OMIM:217400,Orphanet:ORPHA1490	Corneal dystrophy and perceptive deafness	germline	20	3228299	TTCGGCATGAGCTCCCTGCCCTACATGAAGATGATCTTTCCCCTCATCATGATCGCCATGA
80338865	16202	NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp)	WASHC5	Oct 01, 2010	MedGen:C1863704,OMIM:603563,Orphanet:ORPHA100989	Spastic paraplegia 8	germline	8	125061192	CAGTATTTTCTTATTTCTGTATTACTAGAAAACCTTCAAGCTTGGTTCAGAGAGATCTCAA
587780579	139905	NM_130838.1(UBE3A):c.1694-2A>G	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25356898	AGTAATGTATTTTTAAAAATCATTTCTTATAGGTATGTTCACATACGATGAATCTACAAAA
187464517	45863	NM_020921.3(NIN):c.3665A>G (p.Gln1222Arg)	NIN	Nov 01, 2012	MedGen:C3553870,OMIM:614851,Orphanet:ORPHA319675	Seckel syndrome 7	germline	14	50757365	CGGACTGTGATCGAGCTTCTGAAAAGAAACAGGACCTACTTTTTGATGTTTCTGTGCTAAA
80356468	34200	NM_002977.3(SCN9A):c.406A>G (p.Ile136Val)	SCN9A	Aug 26, 2008	MedGen:C0014805,OMIM:133020,Orphanet:ORPHA90026,SNOMED CT:403390002	Primary erythromelalgia	not provided	2	166306571	ACCTTATTCAGCATGCTCATCATGTGCACTATTCTGACAAACTGCATATTTATGACCATGA
786204843	187226	NM_000918.3(P4HB):c.1178A>G (p.Tyr393Cys)	P4HB	Mar 05, 2015	MedGen:CN029402,OMIM:112240	Cole-Carpenter syndrome 1	germline	17	81845742	GGACACACCCTAGAACTGCTTTCTTTTCAGATGCCCCATGGTGTGGTCACTGCAAACAGTT
121918456	28367	NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys)	PTPN11	Dec 18, 2017	MedGen:CN074218,OMIM:151100;MedGen:CN074218,OMIM:151100;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C0041409,OMIM:163950;MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	LEOPARD syndrome 1;LEOPARD syndrome 1;Noonan syndrome;Noonan syndrome 1;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;Rasopathy;not provided	de novo;germline;unknown	12	112473023	AAAGGCAAGAAAACAAAAACAAAAATAGATATAAAAACATCCTGCCCTGTAAGTATCAATA
869025342	223779	NM_016474.4(CCDC174):c.1404A>G (p.Ter468Trp)	CCDC174	Feb 18, 2016	MedGen:C4225196,OMIM:616816,Orphanet:ORPHA467176	Hypotonia, infantile, with psychomotor retardation	germline	3	14671194	CATGATTTCCTATTACAAACAAGTGACATGATCTTTCAAAGCACGCTGACTTGGGTTTGTA
104894835	25763	NM_000169.2(GLA):c.101A>G (p.Asn34Ser)	GLA	Jul 17, 2012	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101407803	GGGACATCCCTGGGGCTAGAGCACTGGACAATGGATTGGCAAGGACGCCTACCATGGGCTG
199472678	67703	NM_000218.2(KCNQ1):c.332A>G (p.Tyr111Cys)	KCNQ1	Jul 26, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2445430	TGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGGAA
1085307672	415583	NM_002734.4(PRKAR1A):c.806A>G (p.Asp269Gly)	PRKAR1A	Apr 13, 2017	MedGen:CN517202	not provided	germline	17	68528906	TGGACAAGTGGGAACGTCTTACGGTAGCTGATGCATTGGAACCAGTGCAGTTTGAAGATGG
397514631	48554	NM_005609.3(PYGM):c.152A>G (p.Asp51Gly)	PYGM	Feb 18, 2013	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009	Glycogen storage disease, type V	germline	11	64759747	TAAAGGACCGCAATGTGGCCACCCCACGAGACTACTACTTTGCTCTGGCCCATACCGTGCG
587783552	169895	NM_178151.2(DCX):c.413A>G (p.Tyr138Cys)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401282	CCTCAGACAACTTCTTTAAAAAGGTGGAGTACACCAAGAATGTCAATCCCAACTGGTCTGT
202147607	15592	NM_000140.3(FECH):c.1137+3A>G	FECH	Jun 04, 1994	MedGen:C0162568,OMIM:177000,Orphanet:ORPHA79278,SNOMED CT:51022005	Erythropoietic protoporphyria	germline	18	57551312	TCTTAATGGAAATCCATTGTTCTCTAAGGTATCTACAGTGTTACAATCGTTTTAGTAGAAC
863225133	214255	NM_001134831.1(AHI1):c.1115A>G (p.Asp372Gly)	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135457530	CTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATATGTCAAGAAAGA
587777755	20705	NM_014946.3(SPAST):c.1245+4A>G	SPAST	May 01, 2001	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline	2	32128483	AGTGCTGCAAGTTTAACTTCAAAATACGTGAGTGCTCTGTTTCCAATATTGTCGTATTTTA
121912296	47540	NM_001363.4(DKC1):c.115A>G (p.Lys39Glu)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154765474	GAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACA
137853184	15586	NM_152416.3(NDUFAF6):c.296A>G (p.Gln99Arg)	NDUFAF6	Jul 11, 2008	MedGen:C1838951	Leigh syndrome due to mitochondrial complex I deficiency	germline	8	95032093	CACTGAGGGCCTTTAATGTGGAACTGGCTCAGGCTGGTATTAAGATACCTTAAAATATTAT
863225432	214765	NM_004208.3(AIFM1):c.778A>G (p.Thr260Ala)	AIFM1	Aug 01, 2015	Gene:751798,MedGen:C1845095,OMIM:300614,Orphanet:ORPHA139583	Deafness, X-linked 5	germline	X	130140536	CAAATAACCTATGAAAAGTGCTTGATTGCAACAGGTGAGCATTTCTGGAGATGGCTTTCTT
879255648	247558	NM_013336.3(SEC61A1):c.553A>G (p.Thr185Ala)	SEC61A1	Jul 29, 2016	MedGen:C4310741,OMIM:617056	Hyperuricemic nephropathy, familial juvenile, 4	germline	3	128060598	CTTGGCTCTGGTATTTCTCTCTTCATTGCAACTAACATCTGTGAAACCATCGTATGGAAGG
121918554	16268	NM_017654.3(SAMD9):c.4483A>G (p.Lys1495Glu)	SAMD9	Oct 01, 2006	MedGen:C1864861,OMIM:610455,Orphanet:ORPHA306658	Tumoral calcinosis, familial, normophosphatemic	germline	7	93101615	AAAGGTAAAAGACTGGAAAGACTTGTTCACAAAGGAAAAATTGACCAGTGCTTTAAGAAGA
863225246	214414	NM_000787.3(DBH):c.1667A>G (p.Tyr556Cys)	DBH	Oct 29, 2015	MedGen:C0342687,OMIM:223360,Orphanet:ORPHA230	Dopamine beta hydroxylase deficiency	germline	9	133657174	CCTTCAACCGCGACGTACTGAAGGCCCTGTACAGCTTCGCGCCCATCTCCATGCACTGCAA
397508721	68622	NM_000492.3(CFTR):c.454A>G (p.Met152Val)	CFTR	Feb 01, 2016	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117531079	ATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATA
914395925	359761	NM_000426.3(LAMA2):c.8245-2A>G	LAMA2	Nov 15, 2016	MedGen:CN517202	not provided	germline	6	129502657	TCTCCTGTTTTTCTCTCCTGGGTATTTTACAGGGTCCTTGTGCTGCAGAATCAGAACCAGC
515726141	131940	NM_015474.3(SAMHD1):c.1411-2A>G	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36904251	GATTCTAACATGGGGAGTCTTGTGTTTTCCAGGAGGACTATGAATCTCTTCCAAAAGAGGT
199472718	67767	NM_000218.2(KCNQ1):c.773A>G (p.His258Arg)	KCNQ1	Jun 25, 2012	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2572102	GGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTG
28937571	22339	NM_001814.5(CTSC):c.1235A>G (p.Tyr412Cys)	CTSC	Mar 01, 2004	MedGen:C0031106,OMIM:170650	Periodontitis, aggressive, 1	germline	11	88294163	TGACTAATCATGCTGTTCTGCTTGTGGGCTATGGCACTGACTCAGCCTCTGGGATGGATTA
794727030	191033	NM_004006.2(DMD):c.1150-2A>G	DMD	Dec 05, 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	32644315	TAATTACAATTGTTAACTTCCTTCTTTGTCAGGGGTACATGATGGATTTGACAGCCCATCA
281860267	38767	NM_005211.3(CSF1R):c.1754-2A>G	CSF1R	Aug 30, 2012	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150061597	CCAGGGACTTAAGGGACCTGTGTGCGTGGCAGGTAAGACCCTCGGAGCTGGAGCCTTTGGG
104894557	22565	NM_001303.3(COX10):c.1007A>G (p.Asp336Gly)	COX10	Oct 15, 2003	MedGen:C1850599	Leigh syndrome due to mitochondrial complex IV deficiency	germline	17	14206888	TCAACGCCCTGAGCTGGGGCCTCCGTGAAGACTACTCCCGGGGCGGCTACTGCATGATGTC
80356730	20267	NM_007375.3(TARDBP):c.1009A>G (p.Met337Val)	TARDBP	Mar 12, 2015	MedGen:C2677565,OMIM:612069	Amyotrophic lateral sclerosis type 10	germline	1	11022418	CAGGCAGCACTACAGAGCAGTTGGGGTATGATGGGCATGTTAGCCAGCCAGCAGAACCAGT
774047299	213920	NM_002860.3(ALDH18A1):c.2345A>G (p.Tyr782Cys)	ALDH18A1	Jul 01, 2014	MedGen:C0268354,OMIM:219150,Orphanet:ORPHA2962,SNOMED CT:238826008,SNOMED CT:59252009	Cutis laxa-corneal clouding-oligophrenia syndrome	germline	10	95606805	CAGATTTCTCAGAGCATGGAAGTTTAAAATATCTTCATGAGAACCTCCCTATTCCTCAGAG
763819379	208173	NM_000275.2(OCA2):c.1427A>G (p.Asn476Ser)	OCA2	Feb 16, 2015	MedGen:C0268495,OMIM:203200,Orphanet:ORPHA79432,SNOMED CT:26336006	Tyrosinase-positive oculocutaneous albinism	germline	15	27983421	AAGTCCTGATTGCAGAAGTGATCTTCACAAACATTGGAGGAGCTGCCACTGCCATCGGGGA
121912589	17479	NM_001173464.1(KIF21A):c.2839A>G (p.Met947Val)	KIF21A	Dec 01, 2003	MedGen:C1851102,OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	germline	12	39332608	AAGATGACCATTTCCAACATGGAGGCAGATATGAATAGACTCCTCAAGGTGTGGAAAATAG
730880174	178743	NM_004646.3(NPHS1):c.1756A>G (p.Arg586Gly)	NPHS1	May 16, 2014	MedGen:C0403399,OMIM:256300,Orphanet:ORPHA839,SNOMED CT:197601003	Finnish congenital nephrotic syndrome	germline	19	35845670	GTCAACTTGTCCTGGGACAAGGAAGGGGAGAGGTGGGAGTGCGAGGGATCCCTCCCCTCTC
199472946	78191	NM_000238.3(KCNH2):c.1847A>G (p.Tyr616Cys)	KCNH2	Jul 12, 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	150951546	CCATCAAGGACAAGTATGTGACGGCGCTCTACTTCACCTTCAGCAGCCTCACCAGTGTGGG
118204118	16523	NM_000190.3(HMBS):c.1A>G (p.Met1Val)	HMBS	Nov 01, 1994	MedGen:C1867969	Porphyria, acute intermittent, nonerythroid variant	germline	11	119085034	CCACACACAGCCTACTTTCCAAGCGGAGCCATGTCTGGTAACGGCAATGCGGCTGCAACGG
281874758	35639	NM_000495.4(COL4A5):c.610-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108577950	ATTTTATTTTCTCTTTTGTCTTCTCTTCTTAGGGCCCTCCTGGTCCACCAGGACTTCCAGG
755226547	265169	NM_000044.4(AR):c.2659A>G (p.Met887Val)	AR	May 08, 2015	MedGen:CN517202	not provided	germline	X	67723737	TTCACTTTTGACCTGCTAATCAAGTCACACATGGTGAGCGTGGACTTTCCGGAAATGATGG
104894211	22340	NM_001814.5(CTSC):c.1040A>G (p.Tyr347Cys)	CTSC	Feb 01, 2000	MedGen:C0030360,OMIM:245000,Orphanet:ORPHA678,SNOMED CT:40158001;MedGen:C0031106,OMIM:170650	Papillon-Lefèvre syndrome;Periodontitis, aggressive, 1	germline	11	88294358	GCTTTCGTTATTACTCCTCTGAGTACCACTATGTAGGAGGTTTCTATGGAGGCTGCAATGA
1057517718	360150	NM_001287.5(CLCN7):c.2144A>G (p.Tyr715Cys)	CLCN7	Oct 31, 2016	MedGen:CN517202	not provided	germline	16	1447498	GCCTGAGGCTGAAGGACTTCCGAGACGCCTACCCGCGCTTCCCACCCATCCAGTCCATCCA
180177324	200646	NM_012203.1(GRHPR):c.934A>G (p.Asn312Asp)	GRHPR	Nov 27, 2014	MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria, type II	germline	9	37436729	CGCAACACCATGTCCTTGTTGGCAGCTAACAACTTGCTGGCTGGCCTGAGAGGGGAGCCGA
886039571	259876	NM_194456.1(KRIT1):c.1731-2A>G	KRIT1	Jul 15, 2016	MedGen:CN517202	not provided	germline	7	92213981	TATTTAAAGGATGTTGGCATGTGTGCTTACAGTGAAGAAAATCTAAAATCCATCGTACCTG
137853267	25873	NM_004463.2(FGD1):c.1396A>G (p.Met466Val)	FGD1	Oct 01, 2007	MedGen:C0175701,OMIM:305400,SNOMED CT:14921002	Aarskog syndrome	germline	X	54465797	ATCCTGCAGAAACTGGCCCCCTTCCTCAAGATGTATGGTGAGTATGTGAAGAACTTTGACC
111033316	52680	NM_000441.1(SLC26A4):c.1541A>G (p.Gln514Arg)	SLC26A4	Mar 02, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:CN517202;MedGen:CN169374	Enlarged vestibular aqueduct;Pendred's syndrome;not provided;not specified	germline	7	107696036	TTGGACTGTTGACTGTGGTCCTGAGAGTTCAGTTGTGAGTAACGTAAAACCCAGATTTCCT
121918459	28372	NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys)	PTPN11	Jul 14, 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:C1860991,OMIM:609942;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome;Noonan syndrome 1;Noonan syndrome 1;Noonan syndrome 3;Rasopathy;not provided	germline;unknown	12	112450368	ACATCAAGATTCAGAACACTGGTGATTACTATGACCTGTATGGAGGGGAGAAATTTGCCAC
172151858	44163	NM_017636.3(TRPM4):c.2741A>G (p.Lys914Arg)	TRPM4	Jan 01, 2012	Gene:8184,MedGen:C1970298,OMIM:604559	Progressive familial heart block type 1B	germline	19	49200395	TGCGGCTGCTTCACATCTTCACGGTCAACAAACAGCTGGGGCCCAAGATCGTCATCGTGAG
367543263	36611	NM_000155.3(GALT):c.854A>G (p.Lys285Arg)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649031	TAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCC
869312160	214019	NM_000169.2(GLA):c.980A>G (p.Gln327Arg)	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	101398389	TTGCCATCAATCAGGACCCCTTGGGCAAGCAAGGGTACCAGCTTAGACAGGTAAATAAGAG
587784495	168990	NM_006009.3(TUBA1A):c.986A>G (p.Asn329Ser)	TUBA1A	Oct 14, 2016	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011	Lissencephaly 3	germline	12	49185380	ACCGTGGTGACGTGGTTCCCAAAGATGTCAATGCTGCCATTGCCACCATCAAGACCAAGCG
267606830	15045	NM_017547.3(FOXRED1):c.1289A>G (p.Asn430Ser)	FOXRED1	Oct 01, 2010	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	11	126277517	GCGTGGTGGGCCCCCACCCGCTAGTTGTCAACATGTACTTTGCTACTGGCTTCAGTGGTCA
-1	433327	NM_000109.3(DMD):c.8367-2A>G	DMD	May 18, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN169374	Duchenne muscular dystrophy;not specified	germline	X	31496946	TTCTGACATGGTACGCTGCTGTTCTTTTTCAGGTCCCATTTGGAAGCCAGTTCTGACCAGT
80359869	34091	NM_001017420.2(ESCO2):c.1674-2A>G	ESCO2	Oct 02, 2008	MedGen:C0392475,OMIM:268300,OMIM:269000,SNOMED CT:48718006	Roberts-SC phocomelia syndrome	not provided	8	27803304	CCATCATTAAATCATCTTTTCTTCTCTTTTAGGAATTGCTTCATGTTTGGCTGTTTTCTCA
387906950	39569	NM_000017.3(ACADS):c.1031A>G (p.Glu344Gly)	ACADS	Apr 08, 2014	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007	Deficiency of butyryl-CoA dehydrogenase	germline;unknown	12	120739141	GAAGGCTCTGACTGTACCCCCATGTTTAGGAGGCAGCCATGGCCAAGCTGGCCGCCTCGGA
104895503	16627	NM_001127255.1(NLRP7):c.2738A>G (p.Asn913Ser)	NLRP7	Sep 01, 2009	MedGen:C2931618,OMIM:231090,Orphanet:ORPHA254685	Hydatidiform mole	germline	19	54930571	GCAGCCTCACAAACCTGGACTTGAGTATCAACCAGATAGCTCGTGGATTGTGGATTCTCTG
1060499643	380451	NM_000143.3(FH):c.1118A>G (p.Asn373Ser)	FH	Jan 17, 2017	Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523	Multiple cutaneous leiomyomas	germline	1	241502561	TCATTGGTGGTTTTCTTGAAGGCAAGGTGAACCCTACTCAGTGTGAAGCAATGACCATGGT
672601375	171799	NM_002887.3(RARS):c.1A>G (p.Met1Val)	RARS	Oct 11, 2016	MedGen:C4015323,OMIM:616140,Orphanet:ORPHA438114;MedGen:CN517202	Leukodystrophy, hypomyelinating, 9;not provided	germline	5	168486499	CCACTTGGCGAGTGAGACGCTGATGGGAGGATGGACGTACTGGTGTCTGAGTGCTCCGCGC
796052068	200552	NM_000030.2(AGXT):c.777-2A>G	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240875933	GGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCC
121913279	28691	NM_006218.3(PIK3CA):c.3140A>G (p.His1047Arg)	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;MedGen:C0858252,Orphanet:ORPHA213528;MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;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:C0022603,OMIM:182000;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:D009369,MedGen:C0027651,SNOMED CT:108369006;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: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;MedGen:CN233161;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:0025171,MedGen:C2347979;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;Breast adenocarcinoma;Carcinoma of colon;Carcinoma of esophagus;Colorectal Neoplasms;Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi;Glioblastoma;Hepatocellular carcinoma;Keratosis, seborrheic;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Neoplasm;Neoplasm of brain;Neoplasm of ovary;Neoplasm of stomach;Neoplasm of the breast;Non-small cell lung cancer;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Ovarian epithelial cancer;PIK3CA related overgrowth spectrum;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Rosette-forming glioneuronal tumor;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	179234297	AGTATTTCATGAAACAAATGAATGATGCACATCATGGTGGCTGGACAACAAAAATGGATTG
121917736	28271	NM_005360.4(MAF):c.890A>G (p.Lys297Arg)	MAF	Mar 15, 2006	MedGen:C3888097,OMIM:610202	Cataract 21, multiple types	germline	16	79599013	TCCGGCTGAAGCAGAAGAGGCGGACCCTGAAAAACCGCGGCTATGCCCAGTCCTGCCGCTT
121908580	21212	NM_004328.4(BCS1L):c.148A>G (p.Thr50Ala)	BCS1L	Feb 01, 2009	MedGen:C1852372,OMIM:124000	Mitochondrial complex III deficiency	germline	2	218661135	CTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCT
515726140	131938	NM_015474.3(SAMHD1):c.1153A>G (p.Met385Val)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36912462	CAACACAAAGTTGGCAACATTATTGATACAATGTAAGAAACTTGATTGTCATTTCCCTATA
794729657	15300	NM_004628.4(XPC):c.413-24A>G	XPC	Feb 01, 2004	MedGen:C2752147,OMIM:278720,SNOMED CT:25784009	Xeroderma pigmentosum, group C	germline	3	14168404	TAGCTATTATTATTGTTATTACTATTACTGATTTTTAAAAATGCTTGTTGATAGAACTTAG
397515484	76990	NM_001015879.1(AURKC):c.379-2A>G	AURKC	Dec 01, 2011	MedGen:C0403812,OMIM:243060,Orphanet:ORPHA137893,SNOMED CT:236806004	Infertility associated with multi-tailed spermatozoa and excessive DNA	germline	19	57233458	ACTTCCAGGGTGACTTTTCTTTGCACCCACAGATAATAGAGGAGTTGGCAGATGCCCTGAC
137852645	24245	NM_002047.3(GARS):c.374A>G (p.Glu125Gly)	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	30599996	AAGATGATATTGTAGACCGAGCAAAAATGGAAGATACCCTGAAGAGGAGGTTTTTCTATGA
876657407	199862	NM_001010867.3(IBA57):c.678A>G (p.Gln226=)	IBA57	Feb 17, 2015	MedGen:C4225322,OMIM:616451,Orphanet:ORPHA468661	Spastic paraplegia 74, autosomal recessive	germline	1	228175028	GTGGGATTATCACCAGCACCGATACCTGCAAGGTATGGGTGGGGTGGGCACGCTGGGCTGG
1085307329	414279	NM_001204.6(BMPR2):c.1276+3A>G	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532735	TTTATGAGATGTACAGACCTCTTCCCAGGTAAAAACTACTGTCAAAAGTTGATATTTTTTG
119103225	16965	NM_022132.4(MCCC2):c.569A>G (p.His190Arg)	MCCC2	Jan 01, 2007	MedGen:C1859499,OMIM:210210	3-methylcrotonyl CoA carboxylase 2 deficiency	germline	5	71604413	GACAAGCAGATGTGTTTCCAGATCGAGACCACTTTGGCCGTACATTCTATAATCAGGCAAT
63750954	30515	NM_000518.4(HBB):c.*112A>G	HBB	Jul 20, 2016	MedGen:C3841475	Beta-plus-thalassemia	germline	11	5225486	GGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCAATGATGTAT
-1	441962	NM_002087.3(GRN):c.1414-2A>G	GRN	Mar 15, 2017	MedGen:CN517202	not provided	germline	17	44352339	ATAATGCCATTCTGTGCTCCCTTCCCCGCCAGGCTGTGTGCTGCGAGGATCGCCAGCACTG
397516411	52656	NM_000441.1(SLC26A4):c.-3-2A>G	SLC26A4	Mar 22, 2012	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	107661637	GTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGA
137852234	25619	NM_000133.3(F9):c.329A>G (p.Asp110Gly)	F9	Apr 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139541127	ATCCATGTTTAAATGGCGGCAGTTGCAAGGATGACATTAATTCCTATGAATGTTGGTGTCC
146936371	40065	NM_201269.2(ZNF644):c.1759A>G (p.Ile587Val)	ZNF644	Jun 01, 2011	MedGen:C3279997,OMIM:614167	Myopia 21, autosomal dominant	germline	1	90939595	GTAGGATCATCCAAAAAATCAGCTACCTACATATGTAAGATGTGTCCTTTTACTACTTCAG
587777252	130977	NM_033419.4(PGAP3):c.914A>G (p.Asp305Gly)	PGAP3	May 17, 2017	MedGen:C3810354,OMIM:615716;MedGen:CN517202	Hyperphosphatasia with mental retardation syndrome 4;not provided	germline	17	39672852	CTCCTTTGGCCCACAGCTTTCTGGAAGATGACAGCCTGTACCTGCTGAAGGAATCAGAGGA
121913136	29719	NM_000208.3(INSR):c.1459A>G (p.Lys487Glu)	INSR	May 06, 1988	MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005	Leprechaunism syndrome	germline	19	7170561	GGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCAATGGGGACCAGGCATCCTGTAAGT
-1	466618	NM_000267.3(NF1):c.4515-2A>G	NF1	Mar 02, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31261709	AATTTTTTTTCTAAGTAGTTTGCTGTATCTAGGGATCATAAAGCTGTTGGAAGACGACCTT
193929331	27635	NM_033360.3(KRAS):c.13A>G (p.Lys5Glu)	KRAS	Apr 13, 2016	MedGen:C1860991,OMIM:609942;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome 3;Rasopathy;not provided	germline;unknown	12	25245372	TTATAAGGCCTGCTGAAAATGACTGAATATAAACTTGTGGTAGTTGGAGCTGGTGGCGTAG
128621195	26406	NM_000061.2(BTK):c.919A>G (p.Arg307Gly)	BTK	Jan 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101358672	TTTCAGGGGAAAGAAGGAGGTTTCATTGTCAGAGACTCCAGCAAAGCTGGCAAATATACAG
1057518681	361261	NM_078480.2(PUF60):c.1381-2A>G	PUF60	Jan 19, 2017	MedGen:C3810023,OMIM:615583;MedGen:CN517202	Verheij syndrome;not provided	de novo	8	143816821	TCAGCTGTCTTCCCCTCGGCCCTGCCCCACAGTCTACAGTGATGGTTCTGCGCAACATGGT
515726185	20426	NM_015713.4(RRM2B):c.322-2A>G	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	102225020	ACTGGATATATCTATTTTCCTTATCTTCTTAGGTGGAGCGCTTTAGTCAGGAGGTGCAGGT
527236119	152887	NM_206933.2(USH2A):c.10544A>G (p.Asp3515Gly)	USH2A	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	1	215782779	CTACGTGGACCAAAATAGACAATCTTGAAGATACAATTGTCTTAAACTGGAGAAAACCTAT
72547544	20116	NM_021615.4(CHST6):c.329A>G (p.Tyr110Cys)	CHST6	Mar 01, 2004	MedGen:C1636149,OMIM:217800,Orphanet:ORPHA98969,SNOMED CT:418054005	Macular corneal dystrophy Type I	germline	16	75479500	TCCTGTGCGACATGGACGTGTTTGATGCCTATCTGCCTTGGCGCCGCAACCTGTCCGACCT
1085307127	413914	NM_001195.4(BFSP1):c.1042+3A>G	BFSP1	May 09, 2017	MedGen:C3808107,OMIM:611391	Cataract 33, multiple types	germline	20	17496935	TCTCTCAGCACTGGATCCGGTGGGAAAGGTAACGCTCCCCAACACTGGACTTCTGTTTTTT
-1	481223	NM_001429.3(EP300):c.3262-2A>G	EP300	Oct 27, 2017	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	de novo	22	41157167	TGAGTAATGTTTGATGTCACTTGTCTTTCTAGGATTACTTTGATATTGTGAAGAGCCCCAT
137853206	33291	NM_013411.4(AK2):c.1A>G (p.Met1Val)	AK2	Jan 01, 2009	MedGen:C0272167,OMIM:267500,Orphanet:ORPHA33355,SNOMED CT:111584000	Reticular dysgenesis	germline	1	33036828	AACTGGTGGCAGTGAGAGACTTCGGCGGACATGGCTCCCAGCGTGCCAGCGGCAGAACCCG
587776400	36032	NM_000495.4(COL4A5):c.3925-2A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108680677	TTTTTGTAACATTAATGATTTTATTTATTCAGGGTAATCCTGGCCGGCCGGGTCTCAATGG
267606900	33430	NM_018109.3(MTPAP):c.1432A>G (p.Asn478Asp)	MTPAP	Dec 01, 2014	MedGen:C3150925,OMIM:613672,Orphanet:ORPHA254343	Ataxia, spastic, 4, autosomal recessive	germline	10	30313926	AAACCTGATTCTTCTCCTCTGTACATTCAGAATCCATTTGAAACTTCTCTCAACATAAGCA
-1	427064	NM_001171.5(ABCC6):c.601-2A>G	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16212248	ATACTTCCCTTCTCCATTTTTGTCTGTTGCAGAACCCCTGTCCAGAGACTGGGGCAGCCTT
387906685	38842	NM_001040142.1(SCN2A):c.4419A>G (p.Ile1473Met)	SCN2A	Sep 29, 2009	MedGen:C3150987,OMIM:613721	Early infantile epileptic encephalopathy 11	germline	2	165380702	TACCTTGAATCTTTTCATTGGTGTCATCATAGATAACTTCAACCAACAGAAAAAGAAGATA
878853177	237579	NM_001168272.1(ITPR1):c.6281A>G (p.Glu2094Gly)	ITPR1	Oct 18, 2017	MedGen:C0431401,OMIM:206700,Orphanet:ORPHA1065,SNOMED CT:253176002	Gillespie syndrome	germline	3	4779584	ATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAG
369824948	369683	NM_005005.2(NDUFB9):c.1A>G (p.Met1Val)	NDUFB9	Apr 22, 2015	MedGen:CN517202	not provided	germline	8	124539187	TCCGCGCGGCCGGGGAAGGTCAGCGCCGTAATGGCGTTCTTGGCGTCGGGACCCTACCTGA
864309735	216052	NM_000255.3(MUT):c.299A>G (p.Tyr100Cys)	MUT	Jan 07, 2016	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49459168	CATTCACACGTGGACCATATCCTACCATGTATACCTTTAGGCCCTGGACCATCCGCCAGTA
104894223	20528	NM_012193.3(FZD4):c.766A>G (p.Ile256Val)	FZD4	Apr 01, 2005	MedGen:C0035344,Orphanet:ORPHA90050,SNOMED CT:415297005	Retinopathy of prematurity	germline	11	86951990	TCTAGGTTTTCCTACCCTGAGCGCCCCATCATATTTCTCAGTATGTGCTATAATATTTATA
794728378	197246	NM_000238.3(KCNH2):c.1913A>G (p.Lys638Arg)	KCNH2	Jan 10, 2014	MedGen:CN517202	not provided	germline	7	150951480	GCAACGTCTCTCCCAACACCAACTCAGAGAAGATCTTCTCCATCTGCGTCATGCTCATTGG
786204985	187595	NM_003159.2(CDKL5):c.458A>G (p.Asp153Gly)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo	X	18581945	TCAGCCACAATGATGTCCTAAAACTGTGTGACTTTGGTAAGTTAAAAAGAAATTAAGTCCT
137852479	25070	NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly)	HPRT1	Sep 26, 2017	na;MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004	HPRT ASHVILLE;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	germline	X	134498677	ATGCCCTTGACTATAATGAATACTTCAGGGATTTGAATGTAAGTAATTGCTTCTTTTTCTC
606231235	39885	NM_001017361.2(KHDC3L):c.1A>G (p.Met1Val)	KHDC3L	Sep 09, 2011	MedGen:C0678213,OMIM:614293,Orphanet:ORPHA254688	Hydatidiform mole, recurrent, 2	germline	6	73362730	GTCCTTGTCTCCTGCAGGACCGGCCGCAGCATGGACGCTCCCAGGCGGTTTCCGACGCTCG
-1	457675	NM_194456.1(KRIT1):c.730-2A>G	KRIT1	Jul 27, 2017	MedGen:C1861784,OMIM:116860	Cerebral cavernous malformation	germline	7	92234925	AATGGGTTTTTGTTATTGTTTTCCCTTTCTAGGTAGATAAAGTGGTAATAAATCCATACTT
780270096	217210	NM_173630.3(RTTN):c.5750A>G (p.Asp1917Gly)	RTTN	Dec 03, 2015	Human Phenotype Ontology:HP:0011451,MedGen:C4020749;MedGen:C3553831,OMIM:614833,Orphanet:ORPHA468631	Congenital microcephaly;Microcephaly, short stature, and polymicrogyria with or without seizures	germline	18	70028797	TTTTCAACTGCTTTTTGTTTAAATAGGAGGATGGTGTTATTAAAGAGTTAAGCATTGCCAT
886041335	264718	NM_000070.2(CAPN3):c.2185-2A>G	CAPN3	Dec 30, 2016	MedGen:CN517202	not provided	germline	15	42410586	GTGACCTCCATCCTCAAATTTTCTATTGCCAGAAAATTTTCAAACACTATGACACAGACCA
797044860	205291	NM_004380.2(CREBBP):c.4409A>G (p.His1470Arg)	CREBBP	-	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	16	3736801	TGCGTGGGTCCTGCAGGTATGTGACAGGGCACATCTGGGCCTGTCCTCCAAGTGAAGGAGA
886041693	265108	NM_007075.3(WDR45):c.440-2A>G	WDR45	Oct 13, 2016	MedGen:CN517202	not provided	germline	X	49075947	CGCCCACCCCACCCCCCATCTTCACACCCTAGGGCTCTGTGACCTCTGCCCCAGCCTGGAG
1057518741	205203	NM_005932.3(MIPEP):c.1027A>G (p.Lys343Glu)	MIPEP	Dec 01, 2016	MedGen:C4310661,OMIM:617228,Orphanet:ORPHA478049	Combined oxidative phosphorylation deficiency 31	germline;maternal	13	23862328	CTGAAAGATTTTGAGATGATACGAGGGATGAAAATGAAACTGAATCCTCAAAATTCCGTAA
267606705	28847	NM_005188.3(CBL):c.1144A>G (p.Lys382Glu)	CBL	Aug 13, 2010	MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	germline	11	119278214	TGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAA
104894679	19257	NM_024301.4(FKRP):c.926A>G (p.Tyr309Cys)	FKRP	Dec 01, 2001	MedGen:CN068805	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5	germline	19	46756376	CCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCT
587784163	168236	NM_022455.4(NSD1):c.5893-2A>G	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177282463	GCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGA
1064792877	224793	NM_001257989.1(TYMP):c.1173A>G (p.Ala391=)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526143	GAGCCCGCGCCTCTCAGCCCCTCTCCCCGCAGGCACCGTGGAGCTGGTCCGGGCGCTGCCG
863225174	214195	NM_001080522.2(CC2D2A):c.4741A>G (p.Thr1581Ala)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	unknown	4	15601303	GTGAAGCCTTTAATTGACGCTGTGTATAGTACTGGAGTACATAATATTGATGTTCCTAATG
137852712	23882	NM_000336.2(SCNN1B):c.863A>G (p.Asn288Ser)	SCNN1B	May 28, 2008	MedGen:C2749757,OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	germline	16	23367942	GCATGACAGAGAAGGCACTTCCTTCGGCCAACCCTGGAACTGAATTCGGTGAGTTTTGGTT
797045150	205556	NM_021147.4(CCNO):c.716A>G (p.His239Arg)	CCNO	Sep 03, 2015	MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Kartagener syndrome	germline	5	55231712	GTGCGCCCACCATTAGCTTCTTCCTGGAGCATTTCACGCACGCTCGCGTGGAGGCGGGGCA
104886358	35872	NM_000495.4(COL4A5):c.2510-33A>G	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108620226	ATAACCAGATACATCTTTTAAAACTGCTTCAGTACTTATTAATATTGATATTGTATTAACT
368449236	172107	NM_020461.3(TUBGCP6):c.2546A>G (p.Glu849Gly)	TUBGCP6	Jan 12, 2015	MedGen:C1855056,OMIM:251270	Microcephaly with chorioretinopathy, autosomal recessive	germline	22	50221813	GAGGCCAAGGCTGTGATTCTGGGTCTGCAGAGCAACACTCGCCTGCCTGGGATGGCTGGAA
565513365	259623	NM_000302.3(PLOD1):c.1651-2A>G	PLOD1	Feb 22, 2016	MedGen:CN517202	not provided	germline	1	11966985	GACCCCCTTGACTGAGTCCCTGCCCTCCCCAGCCCTGCCCGGATGTCTATTGGTTCCCCAT
132630302	26092	NM_000252.2(MTM1):c.566A>G (p.Asn189Ser)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641306	CCAATCACCATTGGAGAATAACTTTTATTAATAAGTGCTATGAGCTCTGTGACACTTACCC
137854472	31485	NM_000138.4(FBN1):c.3128A>G (p.Lys1043Arg)	FBN1	Jan 01, 1997	MedGen:C4016054	Marfan syndrome, neonatal	germline	15	48488448	AGATGATACCCAGCCTCTGCACCCACGGCAAGTGCAGAAACACCATTGGCAGCTTTAAGTG
1799807	28254	NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)	BCHE	Jun 14, 2016	na;MedGen:C1283400,OMIM:177400,Orphanet:ORPHA132,SNOMED CT:360589003;MedGen:C1867468	BCHE, dibucaine-resistant i;Deficiency of butyrylcholine esterase;Postanesthetic apnea	germline;unknown	3	165830741	AATATGCAAATTCTTGCTGTCAGAACATAGATCAAAGTTTTCCAGGCTTCCATGGATCAGA
1085307177	414107	NM_001204.6(BMPR2):c.200A>G (p.Tyr67Cys)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464932	CAATATTATGCTCGAAAGGTAGCACCTGCTATGGCCTTTGGGAGAAATCAAAAGGGGACAT
730882183	22096	NM_012233.2(RAB3GAP1):c.649-2A>G	RAB3GAP1	Mar 01, 2005	MedGen:C1838625,OMIM:600118	Warburg micro syndrome 1	germline	2	135120817	TACACGGTATTGTCTTTGCATGTATTTCCTAGGGATGTCCTTTAACTCCATTGCCTCCAGT
121918539	23806	NM_006204.3(PDE6C):c.1363A>G (p.Met455Val)	PDE6C	Aug 01, 2009	MedGen:C2751309	Achromatopsia 5	germline	10	93635590	CTAGAAAACAGAAAGGACATTGCTCAGGAAATGCTCATGAACCAAACCAAAGCCACTCCTG
121918691	27586	NM_001128177.1(THRB):c.1324A>G (p.Met442Val)	THRB	May 01, 1994	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24122946	GGAGCCTGCCATGCCAGCCGCTTCCTGCACATGAAGGTGGAATGCCCCACAGAACTCTTCC
139375856	378843	NM_021628.2(ALOXE3):c.1786-2A>G	ALOXE3	May 26, 2015	MedGen:CN517202	not provided	germline	17	8103495	AACTGACCCAACTGGGATGGGGGTCTCCACAGCATGACTTTGGGGCCTGGATGCCCAATGC
111729952	51783	NM_000256.3(MYBPC3):c.2309-2A>G	MYBPC3	Jun 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	11	47337796	GGGCTGATGTGGGTCCATCCCACCCCATCCAGACGTGCCAGACGCACCTGCGGCCCCCAAG
121908415	20459	NM_004924.5(ACTN4):c.763A>G (p.Lys255Glu)	ACTN4	Mar 01, 2000	MedGen:C0333497,OMIM:603278	Focal segmental glomerulosclerosis 1	germline	19	38710286	GACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCT
730882236	181437	NM_020751.2(COG6):c.1167-24A>G	COG6	Jul 09, 2015	MedGen:C3553230,OMIM:614576,Orphanet:ORPHA464443;MedGen:C0020620;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C3809160,OMIM:615328,Orphanet:ORPHA363523	Congenital disorder of glycosylation type 2L;Hyphidrosis;Intellectual disability;Shaheen syndrome	germline	13	39699477	GAACTGTTTTGTTTCAGTTTCTGTTTTGCAACCTGAAATATTCTTTGCTTTTAGTGGTATT
281865098	34530	NM_022081.5(HPS4):c.461A>G (p.His154Arg)	HPS4	Oct 11, 2012	MedGen:C3484357,OMIM:614073	Hermansky-Pudlak syndrome 4	not provided	22	26472342	AGCAAATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCTGGAACTTGGA
74462309	67808	NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys)	KCNQ1	Mar 14, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2583457	CCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGG
121907926	18517	NM_000280.4(PAX6):c.1171A>G (p.Thr391Ala)	PAX6	Jun 01, 2003	MedGen:C1833798	Optic nerve aplasia, bilateral	germline	11	31790722	ATGAACAGTCAGCCAATGGGCACCTCGGGCACCACTTCAACAGGTGAGCCACTGCTTTCTG
398124647	102607	NM_001743.5(CALM2):c.293A>G (p.Asn98Ser)	CALM2	Aug 01, 2014	MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:C4015695,OMIM:616249	Long QT syndrome 1;Long QT syndrome 15	germline	2	47161851	AACTATACTAAATTTTTTGCTAGGATGGCAATGGCTATATTAGTGCTGCAGAACTTCGCCA
786200897	21722	NM_003494.3(DYSF):c.1285-2A>G	DYSF	Mar 01, 2008	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71535019	TGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGC
28940878	18828	NM_000372.4(TYR):c.125A>G (p.Asp42Gly)	TYR	Jul 15, 1992	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178078	AGAAGGAATGCTGTCCACCGTGGAGCGGGGACAGGAGTCCCTGTGGCCAGCTTTCAGGCAG
1131691067	420770	NM_001042492.2(NF1):c.1260+1604A>G	NF1	Nov 05, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31203089	TACTTTAATTGTGAAATATTTTTGTCTACAACTGACTACATAGAGCACTTTCAAGCATGGA
181169439	431705	NM_001142800.1(EYS):c.5928-2A>G	EYS	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	6	64388842	ACTAAAACCATTTCTTTCTTAAATGGTTACAGGCAAGAATTGGATCCATGTAACGCTGAGC
80356747	34153	NM_001701.3(BAAT):c.967A>G (p.Ile323Val)	BAAT	Mar 10, 2011	MedGen:C2749604,OMIM:235400	Atypical hemolytic-uremic syndrome 1	not provided	9	101362718	ATTGAAGAGGCCCAGGGGCAATTCCTCTTCATTGTAGGAGAAGGTGATAAGACTATCAACA
863223819	210177	NM_004612.3(TGFBR1):c.797A>G (p.Asp266Gly)	TGFBR1	Dec 04, 2014	MedGen:CN517202	not provided	germline	9	99138081	ATGAAAACATCCTGGGATTTATAGCAGCAGACAATAAAGGTCTGTAACATTTGCTTTTCCT
755449669	245960	NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly)	LDLR	Nov 05, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11111514	CCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTG
751437780	360078	NM_002834.4(PTPN11):c.173A>G (p.Asn58Ser)	PTPN11	Mar 24, 2016	MedGen:CN517202	not provided	germline	12	112450353	ATGGAGCTGTCACCCACATCAAGATTCAGAACACTGGTGATTACTATGACCTGTATGGAGG
730880273	20440	NM_006343.2(MERTK):c.1605-2A>G	MERTK	Jan 01, 2002	MedGen:C3151228,OMIM:613862	Retinitis pigmentosa 38	germline	2	112001199	ATAGTGAAGTATCTTTGTTTTCATTCACCCAGGAATGCATTCACAGAGGAGGATTCTGAAT
387906735	38961	m.608A>G	MT-TF	Mar 01, 2001	Human Phenotype Ontology:HP:0001970,MedGen:C0041349	Tubulointerstitial nephritis	germline	MT	608	TTTATGTAGCTTACCTCCTCAAAGCAATACACTGAAAATGTTTAGACGGGCTCACATCACC
28939717	20981	NM_003907.2(EIF2B5):c.271A>G (p.Thr91Ala)	EIF2B5	Jun 14, 2016	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854;MedGen:CN517202	Leukoencephalopathy with vanishing white matter;not provided	germline	3	184136687	GAATTCCTGACTGCCACAGGTGTACAGGAAACATTTGTCTTTTGTTGCTGGAAAGCTGCTC
587776924	48104	NM_003094.3(SNRPE):c.1A>G (p.Met1Val)	SNRPE	Jan 31, 2013	MedGen:C3554409,OMIM:615059	Hypotrichosis 11	germline	1	203861660	GTGCGGGTGTGCTCTTTGTGAAATTCCACCATGGCGTACCGTGGCCAGGGTCAGAAAGTGC
387906857	39272	NM_003079.4(SMARCE1):c.218A>G (p.Tyr73Cys)	SMARCE1	Dec 26, 2014	MedGen:C4310788,OMIM:616938;MedGen:C1333989,OMIM:607174	Coffin-Siris syndrome 5;Meningioma, familial	germline	17	40637511	CAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTA
587776914	44150	NM_017565.3(FAM20A):c.590-2A>G	FAM20A	Jul 11, 2012	MedGen:C2931783,OMIM:204690,Orphanet:ORPHA1031,SNOMED CT:109477002	Enamel-renal syndrome	germline	17	68554829	GAAGTTCTCATTGCCCTTCTCCTCCTTTGCAGATTACAGTCAAGATGAGAAAGCCTTGCTG
137852289	25573	NM_000292.2(PHKA2):c.896A>G (p.Asp299Gly)	PHKA2	Sep 01, 2007	MedGen:C0017927,OMIM:306000	Glycogen storage disease type IXa1	germline	X	18940017	GGCGTTATGGATGCTGTCGCTTCCTTCGAGATGGTTATAAAACTCCAAGAGAGGTTGTATT
142800871	205558	NM_031924.5(RSPH3):c.631-2A>G	RSPH3	Jun 07, 2017	MedGen:C4225311,OMIM:616481;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia, primary, 32;Kartagener syndrome	germline	6	158986423	TAAATTCTAGAAGTATTTTCTATCACTGTTAGCTCGGACGGCCTGATTCTCTAGAGCTCCA
565090080	359810	NM_004092.3(ECHS1):c.817A>G (p.Lys273Glu)	ECHS1	Nov 16, 2017	MedGen:C4225391,OMIM:616277;MedGen:CN517202	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency;not provided	germline;maternal	10	133362924	TTCTGTTCCTTTTCCTGCCAGGATGACCGGAAAGAAGGGATGACCGCGTTTGTGGAAAAGA
139315125	226734	NM_016831.2(PER3):c.1247A>G (p.His416Arg)	PER3	Jun 23, 2017	MedGen:C4225169,OMIM:616882;MedGen:C4225169,OMIM:616882	Advanced sleep phase syndrome, familial, 3;Advanced sleep phase syndrome, familial, 3	germline	1	7809900	CTTGTTCCTCTTTGTCCTTCCAGCCAGTTCACGTGAGCGTGTCCAGCGGCTACGGGAGCCT
28942085	18743	NM_000527.4(LDLR):c.2483A>G (p.Tyr828Cys)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;not applicable	19	11129606	TCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACAT
80053154	31384	NM_000142.4(FGFR3):c.1612A>G (p.Ile538Val)	FGFR3	Sep 26, 2013	MedGen:C0410529,OMIM:146000,Orphanet:ORPHA429,SNOMED CT:205468002	Hypochondroplasia	germline	4	1805636	ATGATGAAGATGATCGGGAAACACAAAAACATCATCAACCTGCTGGGCGCCTGCACGCAGG
63751039	33137	NM_000484.3(APP):c.2078A>G (p.Glu693Gly)	APP	Dec 23, 2010	MedGen:C1863052;Human Phenotype Ontology:HP:0002511,MedGen:C0002395,OMIM:104300,SNOMED CT:26929004;MedGen:C2751536,OMIM:605714;MedGen:CN517202	Alzheimer disease, type 1;Alzheimer's disease;Cerebral amyloid angiopathy, APP-related;not provided	germline	21	25891855	CTTAATTTGTTTTCAAGGTGTTCTTTGCAGAAGATGTGGGTTCAAACAAAGGTGCAATCAT
869312742	226235	NM_019108.3(SMG9):c.701+4A>G	SMG9	May 02, 2016	Human Phenotype Ontology:HP:0001999,MedGen:C0424503;Human Phenotype Ontology:HP:0030680,MedGen:C4049796;Human Phenotype Ontology:HP:0002508,MedGen:C1855677;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:C4310793,OMIM:616920	Abnormal facial shape;Abnormality of cardiovascular system morphology;Brainstem dysplasia;Global developmental delay;Heart and brain malformation syndrome	germline	19	43744768	AGCCAACACTCCAGAGGAGGACCAGAGGTGAGGGGCTATCAGATAGGGTGCAGGAGGGAGG
121918608	27992	NM_001161766.1(AHCY):c.344A>G (p.Tyr115Cys)	AHCY	May 19, 2014	MedGen:C3151058,OMIM:613752,Orphanet:ORPHA88618;MedGen:CN517202	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency;not provided	germline	20	34292375	GCGACCTCACCAACCTCATCCACACCAAGTACCCGCAGCTTCTGCCAGGTGAGCAGGGCGG
118203907	15688	NM_000130.4(F5):c.5189A>G (p.Tyr1730Cys)	F5	Jul 15, 2001	MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED CT:4320005	Factor V deficiency	germline	1	169530805	GTCCTGGCTCTGCCTGTCGGGCTTGGGCCTACTACTCAGCTGTGAACCCAGTAGGTACTTT
387907135	40148	NM_016464.4(TMEM138):c.389A>G (p.Tyr130Cys)	TMEM138	Feb 24, 2012	MedGen:C3280906,OMIM:614465	Joubert syndrome 16	germline	11	61368609	TCTGCTTCCTCCCCACAGCAGCAGTGTTGTACTGCTACTTCTATAAACGGACAGCCGTAAG
80338795	34345	NM_012434.4(SLC17A5):c.406A>G (p.Lys136Glu)	SLC17A5	Apr 30, 2015	MedGen:C1096903,OMIM:604369,Orphanet:ORPHA309334,SNOMED CT:87074006;MedGen:CN517202	Salla disease;not provided	germline;unknown	6	73641810	GGAGGATATGTTGCCAGCAAAATAGGGGGGAAAATGCTGCTAGGATTTGGGATCCTTGGCA
118203949	15899	NM_013319.2(UBIAD1):c.695A>G (p.Asn232Ser)	UBIAD1	Aug 01, 2007	Human Phenotype Ontology:HP:0007760,MedGen:C0271287,OMIM:121800,Orphanet:ORPHA98967,SNOMED CT:39662004,SNOMED CT:419395007	Schnyder crystalline corneal dystrophy	germline	1	11285809	CCCTCAGCACCGAGGCCATTCTCCATTCCAACAACACCAGGGACATGGAGTCCGACCGGGA
796053014	201487	NM_001165963.1(SCN1A):c.4476+1A>G	SCN1A	Jun 04, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	germline	2	165998037	ATAGATAATTTCAACCAGCAGAAAAAGAAGATAAGTATTTCTAATATTTTCTCTCCCACTG
281864796	49808	NM_212472.2(PRKAR1A):c.178-2A>G	PRKAR1A	Sep 20, 2012	MedGen:C2607929,OMIM:160980	Carney complex, type 1	not provided	17	68522754	ATCTCATTTTGCAAACTCGTAATTTCTTTCAGGAGGAGGCAAAACAGATTCAGAATCTGCA
121918121	31033	NM_000823.3(GHRHR):c.985A>G (p.Lys329Glu)	GHRHR	Mar 01, 2002	MedGen:C2748571,OMIM:612781,Orphanet:ORPHA231671	Isolated growth hormone deficiency type 1B	germline	7	30976439	AGGATTTGTCTTTCCTGCAGGCGTCTCTCCAAGTCGACACTTTTCCTGATCCCACTCTTTG
267608500	153558	NM_003159.2(CDKL5):c.578A>G (p.Asp193Gly)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	germline;unknown	X	18587977	TTTTCAGCGCTCCCTATGGAAAGTCCGTGGACATGTGGTCGGTGGGCTGTATTCTTGGGGA
587779558	107009	NM_000090.3(COL3A1):c.2284-2A>G (p.Gly762_Lys779del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189001395	TCAAAATTAAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGG
200855215	76419	m.13637A>G	MT-ND5	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	not provided	MT	13637	CTCGAATAATTCTTCTCACCCTAACAGGTCAACCTCGCTTCCCCACCCTTACTAACATTAA
1064793977	408715	NM_000424.3(KRT5):c.1A>G (p.Met1Val)	KRT5	Aug 22, 2015	MedGen:CN517202	not provided	germline	12	52520296	GTTCTCTTGCTCCACCAGGAACAAGCCACCATGTCTCGCCAGTCAAGTGTGTCCTTCCGGA
397514472	39308	NM_004813.2(PEX16):c.992A>G (p.Tyr331Cys)	PEX16	Sep 01, 2010	MedGen:C3553960,OMIM:614877	Peroxisome biogenesis disorder 8B	germline	11	45910273	TGGATTACTTGCCCACCTGGCAGAAAATCTACTTCTACAGTTGGGGCTGACAGACCTCCCG
81002853	46479	NM_000059.3(BRCA2):c.476-2A>G	BRCA2	Jun 01, 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	32326240	ACTTAACAATTTTCCCCTTTTTTTACCCCCAGTGGTATGTGGGAGTTTGTTTCATACACCA
863224996	213884	NM_004006.2(DMD):c.358-2A>G	DMD	May 13, 2014	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32816642	ATTTTCTTATGAAAATTTATTTCCACATGTAGGTCAAAAATGTAATGAAAAATATCATGGC
104894059	23021	NM_000474.3(TWIST1):c.466A>G (p.Ile156Val)	TWIST1	Dec 15, 2001	MedGen:C0175699,OMIM:101400,SNOMED CT:83015004	Saethre-Chotzen syndrome	germline	7	19116856	ATTCAGACCCTCAAGCTGGCGGCCAGGTACATCGACTTCCTCTACCAGGTCCTCCAGAGCG
28935769	28227	NM_000925.3(PDHB):c.395A>G (p.Tyr132Cys)	PDHB	Jul 01, 2004	MedGen:C3279841,OMIM:614111,Orphanet:ORPHA255138	Pyruvate dehydrogenase E1-beta deficiency	germline	3	58430851	AGGTTATAAACTCAGCTGCCAAGACCTACTACATGTCTGGTGGCCTTCAGCCTGTGCCTAT
797045349	209242	NM_000052.6(ATP7A):c.2173-2A>G	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78012877	AAAATTCAATGATTATCATTCCTATATTGCAGTTTTTCGGAGGCTGGTACTTCTACATTCA
1114167444	417871	NM_002816.4(PSMD12):c.909-2A>G	PSMD12	Jun 08, 2017	MedGen:CN249119,OMIM:617516	Stankiewicz-Isidor syndrome	germline	17	67344782	ATTTGGAATATTAAGATGTATACAATTTTCAGGGATCTTTTAAAGCTTTTTACCACAATGG
281865019	47678	NM_024312.4(GNPTAB):c.3458A>G (p.Asn1153Ser)	GNPTAB	May 10, 2012	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	not provided	12	101753516	ATTTCAGGAAGTTTGTTTGCCTGAATGACAACATTGACCACAATCATAAAGATGCTCAGAC
387906772	39064	NM_002052.4(GATA4):c.928A>G (p.Met310Val)	GATA4	Sep 01, 2010	MedGen:C1842778,OMIM:607941	Atrial septal defect 2	germline	8	11755064	GTGACCCTCCAGGTCCCCAGGCCTCTTGCAATGCGGAAAGAGGGGATCCAAACCAGAAAAC
74315335	22992	NM_000261.1(MYOC):c.1010A>G (p.Gln337Arg)	MYOC	Sep 01, 1997	MedGen:C1842028,OMIM:137750	Primary open angle glaucoma juvenile onset 1	germline	1	171636430	CTGTGGTGTACTCGGGGAGCCTCTATTTCCAGGGCGCTGAGTCCAGAACTGTCATAAGATA
397514677	49922	NM_003156.3(STIM1):c.326A>G (p.His109Arg)	STIM1	May 01, 2014	MedGen:C0410207,OMIM:160565,Orphanet:ORPHA2593,SNOMED CT:240087000	Myopathy with tubular aggregates	germline	11	4023928	ATGACCCAACAGTGAAACACAGCACCTTCCATGGTGAGGATAAGCTCATCAGCGTGGAGGA
121908582	21201	NM_152384.2(BBS5):c.547A>G (p.Thr183Ala)	BBS5	Feb 15, 2008	MedGen:C3892039,OMIM:615983	Bardet-Biedl syndrome 5	germline	2	169493765	TTACAGGGCAATTTAGGAACCTTTTTTATTACCAATGTGAGAATTGTGTGGCATGCAAATA
398122515	49852	NM_006231.3(POLE):c.4444+3A>G	POLE	Mar 27, 2013	MedGen:C3554576,OMIM:615139,Orphanet:ORPHA352712	Facial dysmorphism, immunodeficiency, livedo, and short stature	germline	12	132643404	CTGGCCCAGTTCAGCTACCTGGAACCAGGTATGGCCTGCACCAGCCGCCCATCATGTGCCT
78311289	31370	NM_000142.4(FGFR3):c.1948A>G (p.Lys650Glu)	FGFR3	Jan 18, 2017	Human Phenotype Ontology:HP:0030731,MeSH:D002277,MedGen:C0007097;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MedGen:C0334517,Orphanet:ORPHA99865;MedGen:C1300257,OMIM:187601,SNOMED CT:389158007;MedGen:CN517202	Carcinoma;Multiple myeloma;Spermatocytic seminoma;Thanatophoric dysplasia, type 2;not provided	germline;somatic;unknown	4	1806162	CGGGACGTGCACAACCTCGACTACTACAAGAAGACGACCAACGTGAGCCCGGCCCTGGGGT
863223580	209701	NM_001999.3(FBN2):c.6512-2A>G	FBN2	Nov 05, 2012	MedGen:CN517202	not provided	germline	5	128289254	TGAGGAAATTCACATGCAGTTCTATATTTTAGATGTCAATGAGTGTCTTGAGAGCCCAGGC
118192207	34653	NM_172107.3(KCNQ2):c.773A>G (p.Asn258Ser)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63442449	TCCTGGTGTACTTGGCAGAGAAGGGGGAGAACGACCACTTTGACACCTACGCGGATGCACT
397507841	66724	NM_000059.3(BRCA2):c.631+4A>G	BRCA2	Jul 17, 2017	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32326617	CCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAG
77958223	98653	NM_000277.2(PAH):c.533A>G (p.Glu178Gly)	PAH	May 02, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102855309	ATTCTAGTGGGCAGCCCATCCCTCGAGTGGAATACATGGAGGAAGAAAAGAAAACATGGGG
121908074	19143	NM_138691.2(TMC1):c.1960A>G (p.Met654Val)	TMC1	Mar 01, 2002	MedGen:C1832978,OMIM:600974	Deafness, autosomal recessive 7	germline	9	72821038	CTCTTCCTGTCCACAATGCCTGTCTTGTACATGATCGTGTCCCTCCCACCATCTTTTGATT
397507954	67143	NM_000059.3(BRCA2):c.8023A>G (p.Ile2675Val)	BRCA2	Aug 08, 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	32363225	GATAGAAGCAGAAGATCGGCTATAAAAAAGATAATGGAAAGGGATGACACAGCTGCAAAAA
267607767	95765	NM_000249.3(MLH1):c.589-2A>G	MLH1	Aug 10, 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	37012009	AATCCTTGTGTCTTCTGCTGTTTGTTTATCAGCAAGGAGAGACAGTAGCTGATGTTAGGAC
118203947	15897	NM_013319.2(UBIAD1):c.355A>G (p.Arg119Gly)	UBIAD1	Aug 01, 2007	Human Phenotype Ontology:HP:0007760,MedGen:C0271287,OMIM:121800,Orphanet:ORPHA98967,SNOMED CT:39662004,SNOMED CT:419395007	Schnyder crystalline corneal dystrophy	germline	1	11273886	AAGGGCATTGACCACAAAAAGAGTGATGACAGGACACTTGTGGACCGAATCTTGGAGCCGC
104894874	25730	NM_000266.3(NDP):c.125A>G (p.His42Arg)	NDP	Nov 03, 2017	MedGen:C4016494;MedGen:CN517202	Exudative vitreoretinopathy, X-linked;not provided	germline	X	43958521	TGGACTCGGACCCTCGACGCTGCATGAGGCACCACTATGTGGATTCTATCAGTCACCCATT
137852889	17824	NM_000158.3(GBE1):c.1634A>G (p.His545Arg)	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	81537080	TGTTTTGTAATGCAGGTAATGAATTTGGGCATCCTGAATGGTTAGACTTCCCAAGAAAAGG
1057516103	354001	NM_172107.3(KCNQ2):c.973A>G (p.Arg325Gly)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63438675	GGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACC
113994192	24186	NM_033028.4(BBS4):c.157-2A>G	BBS4	Oct 13, 2009	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:C2936864,OMIM:615982	Bardet-Biedl syndrome;Bardet-Biedl syndrome 4	germline	15	72712242	ACTGCTCAGAAGCATTTTTCTCCCTCTTTCAGGCTGTTATCAAAGAACAGCTTCAAGAGAC
1064793856	411478	NM_018486.2(HDAC8):c.165-2A>G	HDAC8	Jul 16, 2015	MedGen:CN517202	not provided	germline	X	72568886	TGACCTCTCTTTGTTCTCTCTGTTATTATTAGGATAGTTAAGCCTAAAGTGGCCTCCATGG
72558433	103195	NM_000531.5(OTC):c.718-2A>G	OTC	-	MedGen:CN517202	not provided	unknown	X	38408874	AGTTATTTAACCAGCGTGTTTATGTATGCTAGAATGGTACCAAGCTGTTGCTGACAAATGA
56707768	18042	NM_000226.3(KRT9):c.482A>G (p.Asn161Ser)	KRT9	Jan 22, 2016	Human Phenotype Ontology:HP:0007559,MedGen:C1721006,OMIM:144200,Orphanet:ORPHA2199;MedGen:CN517202	Epidermolytic palmoplantar keratoderma;not provided	germline	17	41571511	CTAATGAGAAGAGCACCATGCAGGAACTCAATTCTCGGCTGGCCTCTTACTTGGATAAGGT
104893776	28064	NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)	RHO	Dec 01, 1991	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129532253	CAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGG
121908500	20738	NM_182643.2(DLC1):c.2875A>G (p.Thr959Ala)	DLC1	Jan 01, 2000	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	Carcinoma of colon	somatic	8	13099462	CAGATACACCTGGATGTGGACAACGACCGAACCACACCCAGCGACCTGGACAGCACAGGCA
587777752	20700	NM_014946.3(SPAST):c.1688-2A>G	SPAST	Nov 01, 1999	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline	2	32147216	ATTTTTAAGTGCCTGACTTTTATGTTTTACAGAACTAAAACCAGAACAGGTGAAGAATATG
199474715	51281	NM_152263.3(TPM3):c.505A>G (p.Lys169Glu)	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	154172969	TACTGGGATCTTTTCCTGTAGGTGGCTCGTAAGTTGGTGATCATTGAAGGAGACTTGGAAC
376266840	380290	NM_020361.4(CPA6):c.587A>G (p.His196Arg)	CPA6	Mar 10, 2017	MedGen:C3280730,OMIM:614417	Epilepsy, familial temporal lobe, 5	germline	8	67506836	AAAGAGCTGTTTGGATAGACTGTGGTATTCATGCAAGAGAATGGATTGGTCCTGCCTTTTG
121918651	27880	NM_001355436.1(SPTB):c.1A>G (p.Met1Val)	SPTB	Jan 01, 1998	MedGen:C2674219,OMIM:616649	Spherocytosis type 2	germline	14	64823094	GGCAGGCGGAGCTGCTAAGAGCCTGCTGACATGACATCGGCCACAGAGTTTGAAAATGTGG
397507168	19650	NM_032383.4(HPS3):c.2482-2A>G	HPS3	Oct 11, 2012	MedGen:C3888001,OMIM:614072	Hermansky-Pudlak syndrome 3	germline	3	149163840	TTTTGTTTATGAGAAATTCTTTTATGTTTTAGATAAATGCCTGTAGTCATTATGGCTTAAT
179363882	79113	NM_000383.3(AIRE):c.254A>G (p.Tyr85Cys)	AIRE	Dec 19, 2015	MedGen:C0085859,OMIM:240300,Orphanet:ORPHA3453,SNOMED CT:11244009;MedGen:CN517202	Polyglandular autoimmune syndrome, type 1;not provided	germline;unknown	21	44286678	TGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCC
397516806	179447	NM_002834.4(PTPN11):c.661A>G (p.Ile221Val)	PTPN11	Jul 08, 2014	MedGen:CN517202	not provided	germline	12	112455968	GTACTCGATCAGCCCCTTAACACGACTCGTATAAATGCTGCTGAAATAGAAAGCAGAGTTC
121913622	29183	NM_002470.3(MYH3):c.1385A>G (p.Asp462Gly)	MYH3	Aug 01, 2008	MedGen:C1834523,OMIM:601680,Orphanet:ORPHA1147	Distal arthrogryposis type 2B	germline	17	10644376	TTCCAAGACAACACTTCATTGGTGTTTTGGACATTGCAGGCTTTGAAATCTTTGAGGTTTG
886038203	249226	NM_001165927.1(MKS1):c.1461-2A>G	MKS1	Sep 23, 2016	MedGen:C4310705,OMIM:617121	Joubert syndrome 28	germline	17	58206382	CAGCCGTAACCATGTGGCTGGCCTCCCTGCAGGGCCTTCATGGAATCGAGCTCCCTTCAGA
796053351	481836	NM_003165.3(STXBP1):c.88-2A>G	STXBP1	Nov 17, 2017	MedGen:CN517202	not provided	germline	9	127653713	TGAAGCCCATACGCTGTTCTCTTTCCTTGCAGGTGCTGGTGGTGGATCAGTTAAGCATGAG
-1	444566	NM_000141.4(FGFR2):c.314A>G (p.Tyr105Cys)	FGFR2	Jul 12, 2017	MedGen:CN231480;MedGen:CN517202	FGFR2 related craniosynostosis;not provided	germline	10	121565500	AGGGCGCCACGCCTAGAGACTCCGGCCTCTATGCTTGTACTGCCAGTAGGACTGTAGACAG
869312821	226502	NM_002074.4(GNB1):c.227A>G (p.Asp76Gly)	GNB1	Aug 08, 2016	Gene:100310785,MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED CT:91857003;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0008947,MedGen:C1860834;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C4310774,OMIM:616973;Human Phenotype Ontology:HP:0001252,MedGen:C0026827	Acute lymphoid leukemia;Global developmental delay;Infantile muscular hypotonia;Intellectual disability;Mental retardation, autosomal dominant 42;Muscular hypotonia	de novo;somatic;unknown	1	1806515	CCTCCAGGCTTCTCGTCAGTGCCTCGCAGGATGGTAAACTTATCATCTGGGACAGCTACAC
1114167515	419850	NM_130799.2(MEN1):c.416A>G (p.His139Arg)	MEN1	Jun 16, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	64809694	TCAGCCGCTCCTACTTCAAGGATCGGGCCCACATCCAGTCCCTCTTCAGCTTCATCACAGG
397514354	36339	NM_000060.4(BTD):c.364A>G (p.Arg122Gly)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15641962	GAAGATGGCATTCATGGATTCAACTTTACAAGAACATCCATTTATCCATTTTTGGACTTCA
672601360	171768	NM_021830.4(TWNK):c.1754A>G (p.Asn585Ser)	TWNK	Dec 16, 2014	MedGen:C4015307,OMIM:616138	Perrault syndrome 5	germline	10	100993209	CTGTTCCCCAGGCAAGCCAGGAAGCAGACAATGTTCTGATCCTGCAGGACAGGAAGCTGGT
754415994	372663	NM_000231.2(SGCG):c.579-2A>G	SGCG	Jul 10, 2017	MedGen:CN517202	not provided	germline	13	23320635	TTTTTTTTTTGTGCTTCTTTTCCTCATCTCAGATTAGAATCCCCCACTCGGAGTCTAAGCA
727502819	172193	NM_172362.2(KCNH1):c.1480A>G (p.Ile494Val)	KCNH1	Jun 01, 2015	MedGen:C2678486,OMIM:611816,Orphanet:ORPHA420561;Gene:353173,MedGen:CN032818,OMIM:135500	Temple-Baraitser syndrome;Zimmermann-Laband syndrome 1	de novo;germline	1	210804149	TCCTCACCTCTAGCACTTCTCTATGCCACCATCTTCGGGAATGTGACGACTATTTTCCAAC
193929337	34048	NM_000525.3(KCNJ11):c.155A>G (p.Gln52Arg)	KCNJ11	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	17387937	GCAACGTGGCCCACAAGAACATCCGGGAGCAGGGCCGCTTCCTGCAGGACGTGTTCACCAC
879254004	244359	NM_004321.7(KIF1A):c.1040A>G (p.Tyr347Cys)	KIF1A	Sep 20, 2015	MedGen:CN517202	not provided	germline	2	240773254	ACAGCCCACAGCCCCCTCTGCCACCCAGGTATGCTGACCGGGCCAAGCAGATCCGCTGCAA
587776526	15985	NM_000404.3(GLB1):c.1480-2A>G	GLB1	Jan 01, 2000	MedGen:C1968747	GM1-gangliosidosis, type I, with cardiac involvement	germline	3	33014312	CCAGCTCACTGTGCTCTGTTTCTGCTTTGCAGGGTTTGGTTTCTAACCTGACTCTCAGTTC
121964870	27351	NM_001007792.1(NTRK1):c.1651A>G (p.Met551Val)	NTRK1	Oct 01, 2002	MedGen:C0020074,OMIM:256800,Orphanet:ORPHA642,SNOMED CT:62985007	Hereditary insensitivity to pain with anhidrosis	germline	1	156876526	GGCGTCTGCACCGAGGGCCGCCCCCTGCTCATGGTCTTTGAGTATATGCGGCACGGGGACC
397514521	48118	NM_012082.3(ZFPM2):c.2209A>G (p.Lys737Glu)	ZFPM2	Nov 01, 2012	Human Phenotype Ontology:HP:0001719,MedGen:C0013069,Orphanet:ORPHA3426,SNOMED CT:7484005	Double outlet right ventricle	germline	8	105802291	CCTGCCATGCAGAGAACCATGCGCACACGCAAGCGCAGAAAGATGTATGAGATGTGCCTAC