ClinVar for MedGen (Select 861910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246369	NC_000005.9:g.(?_160721088)_(161524884_?)dup	GABRA1, GABRA6 +2 more	Duplication	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 3246364	NC_000005.9:g.(?_161277817)_(161580374_?)del	GABRA1, GABRG2	Deletion	Febrile seizures, familial, 8 +4 more	GPathogenic
Select item 2954435	NM_001127644.2(GABRA1):c.75-8T>G	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2953731	NM_001127644.2(GABRA1):c.833C>T (p.Ser278Phe)	GABRA1 (S278F)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2953493	NM_001127644.2(GABRA1):c.419C>A (p.Thr140Asn)	GABRA1 (T140N)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2953336	NM_001127644.2(GABRA1):c.227G>A (p.Ser76Asn)	GABRA1 (S76N)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2952957	NM_001127644.2(GABRA1):c.596C>G (p.Thr199Ser)	GABRA1 (T199S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2952177	NM_001127644.2(GABRA1):c.817T>C (p.Trp273Arg)	GABRA1 (W273R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2952172	NM_001127644.2(GABRA1):c.828A>C (p.Arg276Ser)	GABRA1 (R276S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2951783	NM_001127644.2(GABRA1):c.983T>C (p.Leu328Pro)	GABRA1 (L328P)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2951351	NM_001127644.2(GABRA1):c.79G>A (p.Gly27Arg)	GABRA1 (G27R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2950941	NM_001127644.2(GABRA1):c.253A>G (p.Met85Val)	GABRA1 (M85V)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2950849	NM_001127644.2(GABRA1):c.85C>A (p.Pro29Thr)	GABRA1 (P29T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2950693	NM_001127644.2(GABRA1):c.867T>A (p.Thr289=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2950039	NM_001127644.2(GABRA1):c.560-95_598del	GABRA1	Deletion (splice acceptor variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GPathogenic
Select item 2949206	NM_001127644.2(GABRA1):c.413A>G (p.Asn138Ser)	GABRA1 (N138S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2948615	NM_001127644.2(GABRA1):c.611G>T (p.Arg204Leu)	GABRA1 (R204L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2948205	NM_001127644.2(GABRA1):c.287G>T (p.Ser96Ile)	GABRA1 (S96I)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2947982	NM_001127644.2(GABRA1):c.1259A>G (p.Asp420Gly)	GABRA1 (D420G)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2947697	NM_001127644.2(GABRA1):c.1145G>A (p.Gly382Asp)	GABRA1 (G382D)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2947548	NM_001127644.2(GABRA1):c.1358_1359delinsTC (p.Thr453Ile)	GABRA1 (T453I)	Indel (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2947383	NM_001127644.2(GABRA1):c.97G>A (p.Asp33Asn)	GABRA1 (D33N)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2947075	NM_001127644.2(GABRA1):c.906C>T (p.Asn302=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2947064	NM_001127644.2(GABRA1):c.978A>G (p.Ser326=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2947035	NM_001127644.2(GABRA1):c.1020A>G (p.Arg340=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2946934	NM_001127644.2(GABRA1):c.216C>G (p.Ile72Met)	GABRA1 (I72M)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2946635	NM_001127644.2(GABRA1):c.481A>G (p.Thr161Ala)	GABRA1 (T161A)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2946453	NM_001127644.2(GABRA1):c.1059+14T>C	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2946006	NM_001127644.2(GABRA1):c.396G>A (p.Lys132=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2945986	NM_001127644.2(GABRA1):c.42G>T (p.Trp14Cys)	GABRA1 (W14C)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2944872	NM_001127644.2(GABRA1):c.1146C>A (p.Gly382=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2943464	NM_001127644.2(GABRA1):c.1001T>G (p.Val334Gly)	GABRA1 (V334G)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2943391	NM_001127644.2(GABRA1):c.1347A>G (p.Leu449=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2942901	NM_001127644.2(GABRA1):c.839C>A (p.Pro280Gln)	GABRA1 (P280Q)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GPathogenic
Select item 2942531	NM_001127644.2(GABRA1):c.651G>A (p.Gln217=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2941410	NM_001127644.2(GABRA1):c.188-9C>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2941382	NM_001127644.2(GABRA1):c.320C>T (p.Pro107Leu)	GABRA1 (P107L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2941311	NM_001127644.2(GABRA1):c.1212A>G (p.Thr404=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2941075	NM_001127644.2(GABRA1):c.565T>C (p.Tyr189His)	GABRA1 (Y189H)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2940794	NM_001127644.2(GABRA1):c.439C>A (p.Arg147=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2940461	NM_001127644.2(GABRA1):c.1158A>T (p.Leu386Phe)	GABRA1 (L386F)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2940329	NM_001127644.2(GABRA1):c.255+9A>T	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2939819	NM_001127644.2(GABRA1):c.1151C>G (p.Pro384Arg)	GABRA1 (P384R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2937929	NM_001127644.2(GABRA1):c.1199T>C (p.Val400Ala)	GABRA1 (V400A)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2937770	NM_001127644.2(GABRA1):c.463C>T (p.Leu155=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2935607	NM_001127644.2(GABRA1):c.1078C>A (p.Pro360Thr)	GABRA1 (P360T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2934634	NM_001127644.2(GABRA1):c.1360C>T (p.Pro454Ser)	GABRA1 (P454S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2934174	NM_001127644.2(GABRA1):c.624A>G (p.Val208=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2933602	NM_001127644.2(GABRA1):c.288C>T (p.Ser96=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2933573	NM_001127644.2(GABRA1):c.576A>T (p.Ala192=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2933433	NM_001127644.2(GABRA1):c.74+16del	GABRA1	Deletion (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GBenign
Select item 2933174	NM_001127644.2(GABRA1):c.559+18G>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2932888	NM_001127644.2(GABRA1):c.1043G>C (p.Ser348Thr)	GABRA1 (S348T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2932748	NM_001127644.2(GABRA1):c.188-19C>T	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2932374	NM_001127644.2(GABRA1):c.999A>T (p.Thr333=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2931664	NM_001127644.2(GABRA1):c.74+5G>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2931576	NM_001127644.2(GABRA1):c.1078C>T (p.Pro360Ser)	GABRA1 (P360S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2931571	NM_001127644.2(GABRA1):c.256-4C>T	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2930299	NM_001127644.2(GABRA1):c.255+10C>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2928656	NM_001127644.2(GABRA1):c.1081C>T (p.Leu361Phe)	GABRA1 (L361F)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2928484	NM_001127644.2(GABRA1):c.1008T>C (p.Tyr336=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2925385	NM_001127644.2(GABRA1):c.875C>T (p.Thr292Ile)	GABRA1 (T292I)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GPathogenic
Select item 2925037	NM_001127644.2(GABRA1):c.1365T>C (p.His455=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2924599	NM_001127644.2(GABRA1):c.559+15A>G	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2924396	NM_001127644.2(GABRA1):c.37G>A (p.Ala13Thr)	GABRA1 (A13T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2923865	NM_001127644.2(GABRA1):c.67G>A (p.Gly23Arg)	GABRA1 (G23R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2923248	NM_001127644.2(GABRA1):c.435C>G (p.Leu145=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2923008	NM_001127644.2(GABRA1):c.703+9G>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2922821	NM_001127644.2(GABRA1):c.703+18A>G	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2922638	NM_001127644.2(GABRA1):c.857-19_857-18delinsCC	GABRA1	Indel (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2922379	NM_001127644.2(GABRA1):c.429C>A (p.Asn143Lys)	GABRA1 (N143K)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2922377	NM_001127644.2(GABRA1):c.365G>A (p.Trp122Ter)	GABRA1 (W122*)	Single nucleotide variant (nonsense)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GPathogenic
Select item 2922339	NM_001127644.2(GABRA1):c.708A>G (p.Glu236=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2662069	NM_001127644.2(GABRA1):c.320C>A (p.Pro107His)	GABRA1 (P107H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2573039	NM_001127644.2(GABRA1):c.371C>T (p.Pro124Leu)	GABRA1 (P124L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GLikely pathogenic
Select item 2499289	NM_001127644.2(GABRA1):c.610C>T (p.Arg204Cys)	GABRA1 (R204C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2423400	NC_000005.9:g.(?_161112996)_(161324428_?)dup	GABRA1, GABRA6	Duplication	Epilepsy, childhood absence 4 +2 more	GUncertain significance
Select item 2423399	NC_000005.9:g.(?_161309544)_(161309727_?)del	GABRA1	Deletion	Epilepsy, childhood absence 4 +2 more	GPathogenic
Select item 2416116	NM_001127644.2(GABRA1):c.429C>T (p.Asn143=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2415436	NM_001127644.2(GABRA1):c.1078C>G (p.Pro360Ala)	GABRA1 (P360A)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2193333	NM_001127644.2(GABRA1):c.857-20del	GABRA1	Deletion (intron variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 2182201	NM_001127644.2(GABRA1):c.522T>A (p.Pro174=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2181400	NM_001127644.2(GABRA1):c.216C>A (p.Ile72=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 2177868	NM_001127644.2(GABRA1):c.74+16T>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2159030	NM_001127644.2(GABRA1):c.1251C>T (p.Ser417=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 2152579	NM_001127644.2(GABRA1):c.1261C>T (p.Arg421Ter)	GABRA1 (R421*)	Single nucleotide variant (nonsense)	Epilepsy, childhood absence 4 +2 more	GUncertain significance
Select item 2147942	NM_001127644.2(GABRA1):c.75-11T>C	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2147428	NM_001127644.2(GABRA1):c.75-17T>G	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 2142266	NM_001127644.2(GABRA1):c.255+8G>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 2141000	NM_001127644.2(GABRA1):c.1260C>T (p.Asp420=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 4 +2 more	GLikely benign
Select item 2136351	NM_001127644.2(GABRA1):c.788T>C (p.Met263Thr)	GABRA1 (M263T)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GLikely pathogenic
Select item 2132137	NM_001127644.2(GABRA1):c.1059+7G>A	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2130326	NM_001127644.2(GABRA1):c.439C>G (p.Arg147Gly)	GABRA1 (R147G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2129576	NM_001127644.2(GABRA1):c.560A>G (p.Tyr187Cys)	GABRA1 (Y187C)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2114713	NM_001127644.2(GABRA1):c.563C>A (p.Ala188Asp)	GABRA1 (A188D)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely pathogenic
Select item 2111632	NM_001127644.2(GABRA1):c.560-12G>C	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2106557	NM_001127644.2(GABRA1):c.790A>G (p.Thr264Ala)	GABRA1 (T264A)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2103100	NM_001127644.2(GABRA1):c.75-18C>G	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2101091	NM_001127644.2(GABRA1):c.477-7C>T	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 2100315	NM_001127644.2(GABRA1):c.138G>T (p.Leu46Phe)	GABRA1 (L46F)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance

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