Related gene-specific medical variations for Gene (Select 6529) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165349	NM_003042.4(SLC6A1):c.110A>C (p.Lys37Thr)	SLC6A1, SLC6A1-AS1 (K37T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165348	NM_003042.4(SLC6A1):c.109A>G (p.Lys37Glu)	SLC6A1, SLC6A1-AS1 (K37E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065895	NM_003042.4(SLC6A1):c.121C>T (p.Leu41Phe)	SLC6A1, SLC6A1-AS1 (L41F)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 3029016	NM_003042.4(SLC6A1):c.426C>T (p.Val142=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	SLC6A1-related disorder	GLikely benign
Select item 3017456	NM_003042.4(SLC6A1):c.370+18G>A	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2982921	NM_003042.4(SLC6A1):c.159C>T (p.Phe53=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2911773	NM_003042.4(SLC6A1):c.300G>A (p.Leu100=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant +2 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2889713	NM_003042.4(SLC6A1):c.423C>T (p.Ile141=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	SLC6A1-related disorder +1 more	GLikely benign
Select item 2882626	NM_003042.4(SLC6A1):c.471+8G>T	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2862330	NM_003042.4(SLC6A1):c.69C>T (p.Ala23=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2861286	NM_003042.4(SLC6A1):c.165G>A (p.Met55Ile)	SLC6A1, SLC6A1-AS1 (M55I)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2845901	NM_003042.4(SLC6A1):c.143A>T (p.Lys48Met)	SLC6A1, SLC6A1-AS1 (K48M)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2844031	NM_003042.4(SLC6A1):c.138G>T (p.Thr46=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2826143	NM_003042.4(SLC6A1):c.370+17G>A	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2824609	NM_003042.4(SLC6A1):c.135C>T (p.Asp45=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2769671	NM_003042.4(SLC6A1):c.370+15C>T	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2763823	NM_003042.4(SLC6A1):c.371-16dup	SLC6A1, SLC6A1-AS1	Duplication (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2753439	NM_003042.4(SLC6A1):c.190C>T (p.Leu64=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2747355	NM_003042.4(SLC6A1):c.170G>T (p.Cys57Phe)	SLC6A1, SLC6A1-AS1 (C57F)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2746014	NM_003042.4(SLC6A1):c.370+16A>G	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2742074	NM_003042.4(SLC6A1):c.370+18G>C	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2741377	NM_003042.4(SLC6A1):c.316C>T (p.Gln106Ter)	SLC6A1, SLC6A1-AS1 (Q106*)	Single nucleotide variant (nonsense +2 more)	Myoclonic-atonic epilepsy	GPathogenic
Select item 2730845	NM_003042.4(SLC6A1):c.126C>G (p.Pro42=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2717220	NM_003042.4(SLC6A1):c.70A>C (p.Asn24His)	SLC6A1, SLC6A1-AS1 (N24H)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2717168	NM_003042.4(SLC6A1):c.238+15G>A	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2698932	NM_003042.4(SLC6A1):c.371-5C>G	SLC6A1-AS1, SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2698725	NM_003042.4(SLC6A1):c.118G>A (p.Asp40Asn)	SLC6A1, SLC6A1-AS1 (D40N)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2694251	NM_003042.4(SLC6A1):c.179A>G (p.Tyr60Cys)	SLC6A1, SLC6A1-AS1 (Y60C)	Single nucleotide variant (intron variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2692588	NM_003042.4(SLC6A1):c.153C>T (p.Phe51=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2690032	NM_003042.4(SLC6A1):c.144G>C (p.Lys48Asn)	SLC6A1, SLC6A1-AS1 (K48N)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2664089	NM_003042.4(SLC6A1):c.336del (p.Gly112_Leu113insTer)	SLC6A1, SLC6A1-AS1	Deletion (frameshift variant +2 more)	Myoclonic-atonic epilepsy	GPathogenic
Select item 2662168	NM_003042.4(SLC6A1):c.74A>T (p.Asp25Val)	SLC6A1, SLC6A1-AS1 (D25V)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2653528	NM_003042.4(SLC6A1):c.471+78C>G	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653527	NM_003042.4(SLC6A1):c.266C>T (p.Thr89Ile)	SLC6A1, SLC6A1-AS1 (T89I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2634574	NM_003042.4(SLC6A1):c.85A>G (p.Thr29Ala)	SLC6A1, SLC6A1-AS1 (T29A)	Single nucleotide variant (missense variant +1 more)	SLC6A1-related disorder	GUncertain significance
Select item 2633957	NM_003042.4(SLC6A1):c.99G>T (p.Lys33Asn)	SLC6A1, SLC6A1-AS1 (K33N)	Single nucleotide variant (missense variant +1 more)	SLC6A1-related disorder	GUncertain significance
Select item 2627574	NM_003042.4(SLC6A1):c.362del (p.Met121fs)	SLC6A1, SLC6A1-AS1 (M121fs +1 more)	Deletion (frameshift variant +2 more)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 2578404	NM_003042.4(SLC6A1):c.46G>T (p.Glu16Ter)	SLC6A1, SLC6A1-AS1 (E16*)	Single nucleotide variant (nonsense +1 more)	Myoclonic-astatic epilepsy	GPathogenic
Select item 2576010	NM_003042.4(SLC6A1):c.1139T>A (p.Leu380His)	SLC6A1 (L202H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436067	NM_003042.4(SLC6A1):c.1528G>C (p.Gly510Arg)	SLC6A1 (G332R +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2436066	NM_003042.4(SLC6A1):c.310C>G (p.Leu104Val)	SLC6A1, SLC6A1-AS1 (L104V)	Single nucleotide variant (missense variant +2 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2436065	NM_003042.4(SLC6A1):c.1230T>A (p.Asp410Glu)	SLC6A1 (D232E +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2431028	NM_003042.4(SLC6A1):c.397T>C (p.Ser133Pro)	SLC6A1, SLC6A1-AS1 (S133P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414868	NM_003042.4(SLC6A1):c.46G>A (p.Glu16Lys)	SLC6A1, SLC6A1-AS1 (E16K)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2413104	NM_003042.4(SLC6A1):c.442A>T (p.Ile148Phe)	SLC6A1, SLC6A1-AS1 (I148F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2333421	NM_003042.4(SLC6A1):c.163A>G (p.Met55Val)	SLC6A1, SLC6A1-AS1 (M55V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265629	NM_003042.4(SLC6A1):c.467C>A (p.Thr156Asn)	SLC6A1, SLC6A1-AS1 (T36N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2194989	NM_003042.4(SLC6A1):c.470C>T (p.Thr157Met)	SLC6A1, SLC6A1-AS1 (T157M +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 2191714	NM_003042.4(SLC6A1):c.151T>C (p.Phe51Leu)	SLC6A1, SLC6A1-AS1 (F51L)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2155429	NM_003042.4(SLC6A1):c.5C>T (p.Ala2Val)	SLC6A1, SLC6A1-AS1 (A2V)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2151968	NM_003042.4(SLC6A1):c.434C>T (p.Ser145Phe)	SLC6A1, SLC6A1-AS1 (S25F +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GPathogenic
Select item 2108032	NM_003042.4(SLC6A1):c.59C>T (p.Ala20Val)	SLC6A1, SLC6A1-AS1 (A20V)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2086425	NM_003042.4(SLC6A1):c.215A>G (p.Tyr72Cys)	SLC6A1, SLC6A1-AS1 (Y72C)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2085477	NM_003042.4(SLC6A1):c.471+14T>A	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2083520	NM_003042.4(SLC6A1):c.207G>C (p.Arg69Ser)	SLC6A1, SLC6A1-AS1 (R69S)	Single nucleotide variant (missense variant +1 more)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 2054325	NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser)	SLC6A1, SLC6A1-AS1 (G5S)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GConflicting classifications of pathogenicity
Select item 2036659	NM_003042.4(SLC6A1):c.370+2T>C	SLC6A1-AS1, SLC6A1	Single nucleotide variant (splice donor variant +1 more)	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 2035698	NM_003042.4(SLC6A1):c.302A>C (p.Glu101Ala)	SLC6A1, SLC6A1-AS1 (E101A)	Single nucleotide variant (missense variant +2 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2030194	NM_003042.4(SLC6A1):c.9C>A (p.Thr3=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2020952	NM_003042.4(SLC6A1):c.323C>A (p.Thr108Asn)	SLC6A1, SLC6A1-AS1 (T108N)	Single nucleotide variant (missense variant +2 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2011147	NM_003042.4(SLC6A1):c.342G>T (p.Gly114=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +2 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2010401	NM_003042.4(SLC6A1):c.30C>T (p.Asp10=)	SLC6A1-AS1, SLC6A1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GBenign
Select item 2008870	NM_003042.4(SLC6A1):c.144G>A (p.Lys48=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1998019	NM_003042.4(SLC6A1):c.452T>C (p.Leu151Pro)	SLC6A1, SLC6A1-AS1 (L151P +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 1992307	NM_003042.4(SLC6A1):c.341_344delinsCC (p.Gly114fs)	SLC6A1, SLC6A1-AS1 (G114fs)	Indel (frameshift variant +2 more)	Myoclonic-astatic epilepsy	GPathogenic
Select item 1980335	NM_003042.4(SLC6A1):c.238+18G>T	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1959585	NM_003042.4(SLC6A1):c.138G>C (p.Thr46=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1950313	NM_003042.4(SLC6A1):c.471+11C>A	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1899601	NM_003042.4(SLC6A1):c.250A>T (p.Ile84Phe)	SLC6A1, SLC6A1-AS1 (I84F)	Single nucleotide variant (missense variant +2 more)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 1804228	NM_003042.4(SLC6A1):c.154G>A (p.Asp52Asn)	SLC6A1, SLC6A1-AS1 (D52N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1803074	NM_003042.4(SLC6A1):c.896G>T (p.Gly299Val)	SLC6A1 (G121V +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 1797152	NM_003042.4(SLC6A1):c.287C>T (p.Pro96Leu)	SLC6A1, SLC6A1-AS1 (P96L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1795044	NM_003042.4(SLC6A1):c.270C>T (p.Leu90=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1776362	NM_003042.4(SLC6A1):c.160C>T (p.Leu54Phe)	SLC6A1, SLC6A1-AS1 (L54F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1734365	NM_003042.4(SLC6A1):c.372C>T (p.Gly124=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1730055	NM_003042.4(SLC6A1):c.330C>T (p.Ile110=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1727559	NM_003042.4(SLC6A1):c.309C>T (p.Ser103=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +2 more)	Myoclonic-atonic epilepsy +1 more	GLikely benign
Select item 1721913	NM_003042.4(SLC6A1):c.103C>G (p.Gln35Glu)	SLC6A1, SLC6A1-AS1 (Q35E)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 1710059	NM_003042.4(SLC6A1):c.256T>C (p.Tyr86His)	SLC6A1, SLC6A1-AS1 (Y86H)	Single nucleotide variant (missense variant +2 more)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 1709201	NM_003042.4(SLC6A1):c.218T>C (p.Leu73Pro)	SLC6A1, SLC6A1-AS1 (L73P)	Single nucleotide variant (missense variant +1 more)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 1700124	NM_003042.4(SLC6A1):c.194G>A (p.Gly65Asp)	SLC6A1, SLC6A1-AS1 (G65D)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 1699783	NM_003042.4(SLC6A1):c.274T>A (p.Phe92Ile)	SLC6A1, SLC6A1-AS1 (F92I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1696686	NM_003042.4(SLC6A1):c.1012A>T (p.Ile338Phe)	SLC6A1 (I160F +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 1687642	NM_003042.4(SLC6A1):c.418T>C (p.Tyr140His)	SLC6A1, SLC6A1-AS1 (Y140H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1649192	NM_003042.4(SLC6A1):c.238+14C>T	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GBenign
Select item 1638934	NM_003042.4(SLC6A1):c.239-13T>C	SLC6A1-AS1, SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1630667	NM_003042.4(SLC6A1):c.27C>T (p.Ala9=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1629680	NM_003042.4(SLC6A1):c.333G>A (p.Gly111=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +2 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1613201	NM_003042.4(SLC6A1):c.318G>A (p.Gln106=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +2 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1612266	NM_003042.4(SLC6A1):c.238+9T>C	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-astatic epilepsy	GLikely benign
Select item 1604984	NM_003042.4(SLC6A1):c.12C>T (p.Asn4=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1582267	NM_003042.4(SLC6A1):c.99G>A (p.Lys33=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1570250	NM_003042.4(SLC6A1):c.291C>A (p.Leu97=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +2 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1558139	NM_003042.4(SLC6A1):c.238+17G>A	SLC6A1-AS1, SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GBenign
Select item 1555845	NM_003042.4(SLC6A1):c.239-6C>T	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1532408	NM_003042.4(SLC6A1):c.186C>T (p.Ile62=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1527927	NM_003042.4(SLC6A1):c.268C>G (p.Leu90Val)	SLC6A1, SLC6A1-AS1 (L90V)	Single nucleotide variant (missense variant +2 more)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 1518779	NM_003042.4(SLC6A1):c.79C>T (p.Pro27Ser)	SLC6A1, SLC6A1-AS1 (P27S)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 1517532	NM_003042.4(SLC6A1):c.400T>C (p.Phe134Leu)	SLC6A1, SLC6A1-AS1 (F14L +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GBenign
Select item 1507042	NM_003042.4(SLC6A1):c.224G>A (p.Gly75Glu)	SLC6A1, SLC6A1-AS1 (G75E)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GLikely pathogenic

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