ClinVar for MedGen (Select 834110) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366951	NM_003042.4(SLC6A1):c.176G>A (p.Gly59Asp)	SLC6A1, SLC6A1-AS1 (G59D)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3359120	NM_003042.4(SLC6A1):c.1544G>T (p.Ser515Ile)	SLC6A1 (S337I +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 3338449	GRCh37/hg19 3p25.3(chr3:9974258-11078781)x1	ATP2B2, BRK1 +14 more	Copy number loss	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3338445	GRCh37/hg19 3p25.3(chr3:11076181-11078707)x1	SLC6A1	Copy number loss	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3256734	NM_003042.4(SLC6A1):c.-93G>A	SLC6A1, SLC6A1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3255521	NM_003042.4(SLC6A1):c.994del (p.Met332fs)	SLC6A1 (M154fs +2 more)	Deletion (frameshift variant)	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3255057	NM_003042.4(SLC6A1):c.1613G>A (p.Trp538Ter)	SLC6A1 (W360* +2 more)	Single nucleotide variant (nonsense)	Myoclonic-atonic epilepsy	GPathogenic
Select item 3254630	NM_003042.4(SLC6A1):c.1097_1098delinsCT (p.Leu366Pro)	SLC6A1 (L188P +2 more)	Indel (missense variant)	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3246940	NC_000003.11:g.(?_11060264)_(11071058_?)dup	SLC6A1	Duplication	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3246939	NC_000003.11:g.(?_11058898)_(11064174_?)dup	SLC6A1	Duplication	Myoclonic-atonic epilepsy	GUncertain significance
Select item 3246937	NC_000003.11:g.(?_11072843)_(11078652_?)del	SLC6A1	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
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 3021902	NM_003042.4(SLC6A1):c.1079-15C>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 3020517	NM_003042.4(SLC6A1):c.472-10_472-9del	SLC6A1	Microsatellite (intron variant)	Myoclonic-atonic epilepsy	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 3016681	NM_003042.4(SLC6A1):c.804C>T (p.Ile268=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 3011272	NM_003042.4(SLC6A1):c.1696C>T (p.Arg566Cys)	SLC6A1 (R388C +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 3001675	NM_003042.4(SLC6A1):c.1735C>T (p.Arg579Cys)	SLC6A1 (R459C +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2998801	NM_003042.4(SLC6A1):c.1695+16C>T	SLC6A1	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 (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2976266	NM_003042.4(SLC6A1):c.1191+3G>A	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2976106	NM_003042.4(SLC6A1):c.831C>T (p.Arg277=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2971537	NM_003042.4(SLC6A1):c.1380G>A (p.Leu460=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2961799	NM_003042.4(SLC6A1):c.953+13A>C	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2960635	NM_003042.4(SLC6A1):c.1192-18C>A	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2917875	NM_003042.4(SLC6A1):c.1427-4del	SLC6A1	Deletion (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2917873	NM_003042.4(SLC6A1):c.1427-10_1427-7del	SLC6A1	Deletion (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2916443	NM_003042.4(SLC6A1):c.714+17C>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2913125	NM_003042.4(SLC6A1):c.945T>C (p.Asn315=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2911773	NM_003042.4(SLC6A1):c.300G>A (p.Leu100=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +2 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2910664	NM_003042.4(SLC6A1):c.1723G>A (p.Glu575Lys)	SLC6A1 (E455K +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2905789	NM_003042.4(SLC6A1):c.570G>A (p.Val190=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2904371	NM_003042.4(SLC6A1):c.1390G>A (p.Val464Met)	SLC6A1 (V344M +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2900277	NM_003042.4(SLC6A1):c.961A>G (p.Ile321Val)	SLC6A1 (I201V +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2899294	NM_003042.4(SLC6A1):c.606C>T (p.Asp202=)	SLC6A1	Single nucleotide variant (synonymous variant)	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)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2886501	NM_003042.4(SLC6A1):c.1326G>A (p.Gly442=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2884169	NM_003042.4(SLC6A1):c.1598G>A (p.Gly533Asp)	SLC6A1 (G355D +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
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 2878617	NM_003042.4(SLC6A1):c.1442A>T (p.Tyr481Phe)	SLC6A1 (Y481F +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2868757	NM_003042.4(SLC6A1):c.1191+17C>A	SLC6A1	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 2855539	NM_003042.4(SLC6A1):c.1345C>T (p.Leu449Phe)	SLC6A1 (L271F +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2854532	NM_003042.4(SLC6A1):c.1662C>T (p.Tyr554=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2854296	NM_003042.4(SLC6A1):c.856C>T (p.Leu286=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2851194	NM_003042.4(SLC6A1):c.1711G>A (p.Val571Ile)	SLC6A1 (V393I +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2850983	NC_000003.12:g.11031181dup	SLC6A1	Duplication	Myoclonic-atonic epilepsy	GPathogenic
Select item 2850938	NM_003042.4(SLC6A1):c.1297C>T (p.Leu433=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2849529	NM_003042.4(SLC6A1):c.1695+13C>G	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2849313	NM_003042.4(SLC6A1):c.1192T>C (p.Phe398Leu)	SLC6A1 (F398L +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2849098	NM_003042.4(SLC6A1):c.1439T>C (p.Phe480Ser)	SLC6A1 (F480S +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2847505	NM_003042.4(SLC6A1):c.1453C>G (p.Gln485Glu)	SLC6A1 (Q365E +2 more)	Single nucleotide variant (missense variant)	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 2845113	NM_003042.4(SLC6A1):c.988A>C (p.Thr330Pro)	SLC6A1 (T210P +2 more)	Single nucleotide variant (missense variant)	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 2843980	NM_003042.4(SLC6A1):c.1427-18C>G	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2841430	NM_003042.4(SLC6A1):c.1078+4A>G	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2841316	NM_003042.4(SLC6A1):c.1224G>C (p.Leu408=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2841118	NM_003042.4(SLC6A1):c.1752T>C (p.Pro584=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2839039	NM_003042.4(SLC6A1):c.1427-15C>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2838834	NM_003042.4(SLC6A1):c.502T>C (p.Trp168Arg)	SLC6A1 (W48R +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2838295	NM_003042.4(SLC6A1):c.743A>T (p.Tyr248Phe)	SLC6A1 (Y128F +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2834625	NM_003042.4(SLC6A1):c.1458G>C (p.Glu486Asp)	SLC6A1 (E308D +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2830578	NM_003042.4(SLC6A1):c.1304G>T (p.Gly435Val)	SLC6A1 (G435V +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2830556	NM_003042.4(SLC6A1):c.954-17C>A	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2829258	NM_003042.4(SLC6A1):c.1383G>A (p.Leu461=)	SLC6A1	Single nucleotide variant (synonymous variant)	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 2823598	NM_003042.4(SLC6A1):c.1233G>A (p.Glu411=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2821743	NM_003042.4(SLC6A1):c.1528-14T>C	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2819425	NM_003042.4(SLC6A1):c.515G>A (p.Arg172His)	SLC6A1 (R172H +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2818556	NM_003042.4(SLC6A1):c.1323+11T>C	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2816107	NM_003042.4(SLC6A1):c.1426+17C>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2814958	NM_003042.4(SLC6A1):c.1157T>C (p.Phe386Ser)	SLC6A1 (F386S +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GPathogenic
Select item 2811380	NM_003042.4(SLC6A1):c.724T>A (p.Phe242Ile)	SLC6A1 (F64I +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2810372	NM_003042.4(SLC6A1):c.658_663del (p.Ile220_Ala221del)	SLC6A1	Deletion (inframe_deletion)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2809651	NM_003042.4(SLC6A1):c.954-15C>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2806168	NM_003042.4(SLC6A1):c.1096C>A (p.Leu366Met)	SLC6A1 (L188M +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2805221	NM_003042.4(SLC6A1):c.1325G>A (p.Gly442Glu)	SLC6A1 (G322E +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2803598	NM_003042.4(SLC6A1):c.606C>A (p.Asp202Glu)	SLC6A1 (D24E +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2800863	NM_003042.4(SLC6A1):c.954-17C>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2787753	NM_003042.4(SLC6A1):c.1608G>A (p.Val536=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2782015	NM_003042.4(SLC6A1):c.1475C>T (p.Pro492Leu)	SLC6A1 (P314L +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2780982	NM_003042.4(SLC6A1):c.1050G>C (p.Lys350Asn)	SLC6A1 (K172N +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2772572	NM_003042.4(SLC6A1):c.1326G>C (p.Gly442=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2772181	NM_003042.4(SLC6A1):c.1527+7A>G	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2770702	NM_003042.4(SLC6A1):c.506A>T (p.Asn169Ile)	SLC6A1 (N169I +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
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 2766188	NM_003042.4(SLC6A1):c.1507T>C (p.Phe503Leu)	SLC6A1 (F503L +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2763823	NM_003042.4(SLC6A1):c.371-16dup	SLC6A1, SLC6A1-AS1	Duplication (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2761460	NM_003042.4(SLC6A1):c.1517T>C (p.Ile506Thr)	SLC6A1 (I386T +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2760743	NM_003042.4(SLC6A1):c.472-8C>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2758911	NM_003042.4(SLC6A1):c.549C>T (p.Thr183=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2756988	NM_003042.4(SLC6A1):c.1077A>G (p.Ser359=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2755432	NM_003042.4(SLC6A1):c.735A>T (p.Thr245=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2753439	NM_003042.4(SLC6A1):c.190C>T (p.Leu64=)	SLC6A1-AS1, SLC6A1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2750261	NM_003042.4(SLC6A1):c.1192-5T>C	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2747477	NM_003042.4(SLC6A1):c.492C>A (p.Cys164Ter)	SLC6A1 (C164* +1 more)	Single nucleotide variant (nonsense +1 more)	Myoclonic-atonic epilepsy	GPathogenic

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