GABRA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	LOC129995100, LOC129995101 +294 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	LINC02159, LINC02202 +279 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +110 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	ADRA1B, ATP10B +107 more	Copy number loss	See cases	GPathogenic
Select item 2499664	GRCh38/hg38 5q34(chr5:161615157-162040104)	GABRA1, GABRA6 +1 more	Copy number loss	See cases	GUncertain significance
Select item 352579	NM_000806.5(GABRA1):c.-455G>A	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 352580	NM_000806.5(GABRA1):c.-442dup	GABRA1	Duplication (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352581	NM_000806.5(GABRA1):c.-449G>C	GABRA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352583	NM_000806.5(GABRA1):c.-448G>C	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 352582	NM_000806.5(GABRA1):c.-448G>A	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 907502	NM_000806.5(GABRA1):c.-447G>T	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 907501	NM_000806.5(GABRA1):c.-447G>C	GABRA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907503	NM_000806.5(GABRA1):c.-446G>C	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GLikely benign
Select item 352585	NM_000806.5(GABRA1):c.-441A>G	GABRA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 352584	NM_000806.5(GABRA1):c.-438del	GABRA1	Deletion (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352586	NM_000806.5(GABRA1):c.-439A>G	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 352587	NM_000806.5(GABRA1):c.-405T>C	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 904175	NM_000806.5(GABRA1):c.-399C>T	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 904176	NM_000806.5(GABRA1):c.-248+5C>T	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 352588	NM_000806.5(GABRA1):c.-248+8C>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 506912	NM_000806.5(GABRA1):c.-248+10C>T	GABRA1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1333783	NM_001127643.2(GABRA1):c.-248+1G>T	GABRA1	Single nucleotide variant (intron variant +1 more)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 1291181	NM_001127644.2(GABRA1):c.-266G>T	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 516090	NM_001127644.2(GABRA1):c.-263A>G	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1227301	NM_001127644.2(GABRA1):c.-260T>C	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 516091	NM_001127644.2(GABRA1):c.-258T>C	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 19 +1 more	GConflicting classifications of pathogenicity
Select item 137406	NM_001127644.2(GABRA1):c.-257T>C	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 352589	NM_001127644.2(GABRA1):c.-252T>C	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 386238	NM_001127644.2(GABRA1):c.-247C>T	GABRA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 508427	NM_001127644.2(GABRA1):c.-243A>G	GABRA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512177	NM_001127644.2(GABRA1):c.-241A>T	GABRA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 352590	NM_001127644.2(GABRA1):c.-220T>C	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 352591	NM_001127644.2(GABRA1):c.-195A>G	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 904955	NM_001127644.2(GABRA1):c.-162G>A	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 352592	NM_001127644.2(GABRA1):c.-142A>G	GABRA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 352593	NM_001127644.2(GABRA1):c.-117GACTCG[3]	GABRA1	Microsatellite (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1701491	NM_001127644.2(GABRA1):c.-113C>T	GABRA1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 904956	NM_001127644.2(GABRA1):c.-53C>A	GABRA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 352594	NM_001127644.2(GABRA1):c.-31C>T	GABRA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 377899	NM_001127644.2(GABRA1):c.-24G>C	GABRA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 420983	NM_001127644.2(GABRA1):c.-19_-18del	GABRA1	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 384167	NM_001127644.2(GABRA1):c.-19T>C	GABRA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137407	NM_001127644.2(GABRA1):c.-16+8C>A	GABRA1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 668300	NM_001127644.2(GABRA1):c.-16+15G>A	GABRA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516092	NM_001127644.2(GABRA1):c.-16+18C>G	GABRA1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1250877	NM_001127644.2(GABRA1):c.-16+112GA[8]	GABRA1	Microsatellite (intron variant)	not provided	GBenign
Select item 1302768	NM_001127644.2(GABRA1):c.-16+137GAGC[5]	GABRA1	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1253501	NM_001127644.2(GABRA1):c.-16+851T>A	GABRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216777	NM_001127644.2(GABRA1):c.-15-327G>C	GABRA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377900	NM_001127644.2(GABRA1):c.-15-25G>T	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 507422	NM_001127644.2(GABRA1):c.-15-23T>A	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 377901	NM_001127644.2(GABRA1):c.-15-20C>T	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 668467	NM_001127644.2(GABRA1):c.-15-9A>T	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 904957	NM_001127644.2(GABRA1):c.-15-5T>G	GABRA1	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 352595	NM_001127644.2(GABRA1):c.-10C>G	GABRA1	Single nucleotide variant (5 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GUncertain significance
Select item 205513	NM_001127644.2(GABRA1):c.-4C>T	GABRA1	Single nucleotide variant (5 prime UTR variant)	GABRA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1510625	NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys)	GABRA1 (R2K)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GLikely pathogenic
Select item 1053587	NM_001127644.2(GABRA1):c.8A>G (p.Lys3Arg)	GABRA1 (K3R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GBenign
Select item 205514	NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn)	GABRA1 (S4N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1482052	NM_001127644.2(GABRA1):c.13C>T (p.Pro5Ser)	GABRA1 (P5S)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2087365	NM_001127644.2(GABRA1):c.20T>G (p.Leu7Arg)	GABRA1 (L7R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 196289	NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu)	GABRA1 (D9E)	Single nucleotide variant (missense variant)	GABRA1-related condition +6 more	GBenign/Likely benign
Select item 1170287	NM_001127644.2(GABRA1):c.28T>C (p.Cys10Arg)	GABRA1 (C10R)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 4 +2 more	GBenign
Select item 1114069	NM_001127644.2(GABRA1):c.32T>C (p.Leu11Pro)	GABRA1 (L11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 759315	NM_001127644.2(GABRA1):c.33T>C (p.Leu11=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2011538	NM_001127644.2(GABRA1):c.35G>T (p.Trp12Leu)	GABRA1 (W12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 809834	NM_001127644.2(GABRA1):c.39C>G (p.Ala13=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GConflicting classifications of pathogenicity
Select item 1723866	NM_001127644.2(GABRA1):c.41G>C (p.Trp14Ser)	GABRA1 (W14S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 682491	NM_001127644.2(GABRA1):c.45C>T (p.Ile15=)	GABRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 468876	NM_001127644.2(GABRA1):c.48C>T (p.Leu16=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 1304343	NM_001127644.2(GABRA1):c.53T>C (p.Leu18Pro)	GABRA1 (L18P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304440	NM_001127644.2(GABRA1):c.58A>C (p.Thr20Pro)	GABRA1 (T20P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546090	NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile)	GABRA1 (T20I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 2431995	NM_001127644.2(GABRA1):c.71G>C (p.Arg24Thr)	GABRA1 (R24T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 969559	NM_001127644.2(GABRA1):c.74+3_74+4delinsAT	GABRA1	Indel (intron variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 1758746	NM_001127644.2(GABRA1):c.74+4G>A	GABRA1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
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 1061852	NM_001127644.2(GABRA1):c.74+6G>A	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 2078149	NM_001127644.2(GABRA1):c.74+9A>C	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 129124	NM_001127644.2(GABRA1):c.74+9A>T	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 4 +4 more	GBenign/Likely benign
Select item 1570870	NM_001127644.2(GABRA1):c.74+10C>G	GABRA1	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 706522	NM_001127644.2(GABRA1):c.74+10C>T	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 4 +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 1980366	NM_001127644.2(GABRA1):c.74+13T>A	GABRA1	Single nucleotide variant (intron 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 385750	NM_001127644.2(GABRA1):c.74+19A>G	GABRA1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1288491	NM_001127644.2(GABRA1):c.75-315del	GABRA1	Deletion (intron variant)	not provided	GBenign
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 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 1957891	NM_001127644.2(GABRA1):c.75-14_75-13del	GABRA1	Deletion (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 1964237	NM_001127644.2(GABRA1):c.75-13T>C	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GLikely benign
Select item 1243206	NM_001127644.2(GABRA1):c.75-4dup	GABRA1	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
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 290995	NM_001127644.2(GABRA1):c.75-4del	GABRA1	Deletion (intron variant)	not provided	GUncertain significance
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

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