"Ambry Genetics"[submitter] AND "GABRG2"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352636	NM_198904.4(GABRG2):c.-4dup	GABRG2	Duplication (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 352637	NM_198904.4(GABRG2):c.-4del	GABRG2	Deletion (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 205557	NM_198904.4(GABRG2):c.11C>T (p.Pro4Leu)	GABRG2 (P4L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 414845	NM_198904.4(GABRG2):c.36A>T (p.Ser12=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence 2 +3 more	GLikely benign
Select item 589917	NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys)	GABRG2 (Y14C)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 707436	NM_198904.4(GABRG2):c.52G>C (p.Val18Leu)	GABRG2 (V18L)	Single nucleotide variant (missense variant +2 more)	Febrile seizures, familial, 8 +2 more	GBenign/Likely benign
Select item 589985	NM_198904.4(GABRG2):c.150T>C (p.Ala50=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 986007	NM_198904.4(GABRG2):c.196G>A (p.Val66Ile)	GABRG2 (V37I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1786237	NM_198904.4(GABRG2):c.212_215del (p.Asn71fs)	GABRG2 (N49fs +3 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 588971	NM_198904.4(GABRG2):c.219G>A (p.Leu73=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 137417	NM_198904.4(GABRG2):c.243T>A (p.Leu81=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +4 more	GConflicting classifications of pathogenicity
Select item 1791457	NM_198904.4(GABRG2):c.244C>T (p.Arg82Trp)	GABRG2 (R82W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1793515	NM_198904.4(GABRG2):c.259+1G>A	GABRG2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2954128	NM_198904.4(GABRG2):c.259+5G>A	GABRG2	Single nucleotide variant (intron variant)	Febrile seizures, familial, 8 +2 more	GUncertain significance
Select item 129127	NM_198904.4(GABRG2):c.315C>T (p.Asn105=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +4 more	GBenign
Select item 205541	NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	GABRG2 (A106T +4 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +4 more	GPathogenic/Likely pathogenic
Select item 129128	NM_198904.4(GABRG2):c.354G>A (p.Ala118=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +3 more	GBenign/Likely benign
Select item 137421	NM_198904.4(GABRG2):c.360G>A (p.Thr120=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 959670	NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser)	GABRG2 (R102S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1138858	NM_198904.4(GABRG2):c.505A>T (p.Met169Leu)	GABRG2 (M140L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 93434	NM_198904.4(GABRG2):c.588C>T (p.Asn196=)	GABRG2	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 8 +4 more	GBenign
Select item 205544	NM_198904.4(GABRG2):c.596T>C (p.Met199Thr)	GABRG2 (M199T +5 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 2 +2 more	GUncertain significance
Select item 620250	NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)	GABRG2 (R224* +6 more)	Single nucleotide variant (nonsense)	Epilepsy, childhood absence 2 +3 more	GPathogenic/Likely pathogenic
Select item 129129	NM_198904.4(GABRG2):c.717A>G (p.Gln239=)	GABRG2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 238190	NM_198904.4(GABRG2):c.789T>G (p.Ser263=)	GABRG2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 137429	NM_198904.4(GABRG2):c.798T>C (p.Phe266=)	GABRG2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 205563	NM_198904.4(GABRG2):c.808A>G (p.Arg270Gly)	GABRG2 (R270G +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 137430	NM_198904.4(GABRG2):c.840T>C (p.Tyr280=)	GABRG2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 588395	NM_198904.4(GABRG2):c.843C>A (p.Ile281=)	GABRG2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 521954	NM_198904.4(GABRG2):c.853C>G (p.Leu285Val)	GABRG2 (L285V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3280411	NM_198904.4(GABRG2):c.892A>T (p.Lys298Ter)	GABRG2 (K158* +8 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1766063	NM_198904.4(GABRG2):c.917C>A (p.Ser306Tyr)	GABRG2 (S211Y +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 414844	NM_198904.4(GABRG2):c.942A>G (p.Thr314=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GLikely benign
Select item 384407	NM_198904.4(GABRG2):c.954C>T (p.Leu318=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Febrile seizures, familial, 8 +3 more	GLikely benign
Select item 60708	NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln)	GABRG2 (R323Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 521620	NM_198904.4(GABRG2):c.1027T>C (p.Phe343Leu)	GABRG2 (F343L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 205552	NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp)	GABRG2 (R363W +8 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +3 more	GUncertain significance
Select item 1021840	NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr)	GABRG2 (D230Y +8 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +2 more	GUncertain significance
Select item 1501824	NM_198904.4(GABRG2):c.1111A>G (p.Lys371Glu)	GABRG2 (K231E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 167117	NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)	GABRG2 (K414del +8 more)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 521624	NM_198904.4(GABRG2):c.1140G>A (p.Met380Ile)	GABRG2 (M420I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1737088	NM_198904.4(GABRG2):c.1186A>G (p.Thr396Ala)	GABRG2 (T366A +13 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +2 more	GUncertain significance
Select item 957766	NM_198904.4(GABRG2):c.1189A>G (p.Ile397Val)	GABRG2 (I249V +13 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 408215	NM_198904.4(GABRG2):c.1195A>G (p.Met399Val)	GABRG2 (M391V +13 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +2 more	GConflicting classifications of pathogenicity
Select item 1742157	NM_198904.4(GABRG2):c.1204G>A (p.Ala402Thr)	GABRG2 (A254T +13 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 804829	NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala)	GABRG2 (T381A +13 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +3 more	GConflicting classifications of pathogenicity
Select item 205534	NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +4 more	GConflicting classifications of pathogenicity
Select item 1719507	NM_198904.4(GABRG2):c.1295G>T (p.Cys432Phe)	GABRG2 (C284F +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1769084	NM_198904.4(GABRG2):c.1314A>G (p.Arg438=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3097852	NM_198904.4(GABRG2):c.1316A>G (p.His439Arg)	GABRG2 (H409R +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 290411	NM_198904.4(GABRG2):c.1320G>A (p.Gly440=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 352643	NM_198904.4(GABRG2):c.1334G>A (p.Arg445His)	GABRG2 (R437H +13 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1141187	NM_198904.4(GABRG2):c.1356T>C (p.Tyr452=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1083916	NM_198904.4(GABRG2):c.1413C>T (p.Ser471=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Febrile seizures, familial, 8 +2 more	GLikely benign

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Items: 54