ClinVar for Gene (Select 2559) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280396	NM_000811.3(GABRA6):c.691A>G (p.Thr231Ala)	GABRA6 (T231A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246369	NC_000005.9:g.(?_160721088)_(161524884_?)dup	GABRA1, GABRA6 +2 more	Duplication	Epilepsy, childhood absence 4 +2 more	GUncertain significance
Select item 3246335	NC_000005.9:g.(?_160721088)_(161580374_?)del	GABRB2, GABRA1 +2 more	Deletion	Intellectual disability	GUncertain significance
Select item 3097824	NM_000811.3(GABRA6):c.989T>G (p.Leu330Arg)	GABRA6 (L330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097823	NM_000811.3(GABRA6):c.983C>T (p.Thr328Ile)	GABRA6 (T328I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097822	NM_000811.3(GABRA6):c.94G>A (p.Val32Ile)	GABRA6 (V32I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062861	GRCh37/hg19 5q34(chr5:160404164-161897530)x3	GABRA1, GABRA6 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062845	GRCh37/hg19 5q34(chr5:160737619-161739029)x3	GABRA1, GABRA6 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3058597	NM_000811.3(GABRA6):c.1129C>T (p.Leu377=)	GABRA6	Single nucleotide variant (synonymous variant)	GABRA6-related disorder	GLikely benign
Select item 3045735	NM_000811.3(GABRA6):c.561G>T (p.Thr187=)	GABRA6	Single nucleotide variant (synonymous variant)	GABRA6-related disorder	GLikely benign
Select item 3033517	NM_000811.3(GABRA6):c.1040T>C (p.Val347Ala)	GABRA6 (V347A)	Single nucleotide variant (missense variant)	GABRA6-related disorder	GLikely benign
Select item 2689098	NM_000811.3(GABRA6):c.143G>A (p.Arg48Gln)	GABRA6 (R48Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619843	NM_000811.3(GABRA6):c.574C>A (p.Pro192Thr)	GABRA6 (P192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617000	NM_000811.3(GABRA6):c.598G>C (p.Glu200Gln)	GABRA6 (E200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536463	NM_000811.3(GABRA6):c.811G>T (p.Ala271Ser)	GABRA6 (A271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516573	NM_000811.3(GABRA6):c.1277C>G (p.Pro426Arg)	GABRA6 (P426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499664	GRCh38/hg38 5q34(chr5:161615157-162040104)	GABRA1, GABRA6 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2426686	NC_000005.9:g.(?_160721088)_(161324428_?)dup	GABRA1, GABRA6 +1 more	Duplication	Intellectual disability	GUncertain significance
Select item 2423400	NC_000005.9:g.(?_161112996)_(161324428_?)dup	GABRA1, GABRA6	Duplication	Epilepsy, childhood absence 4 +2 more	GUncertain significance
Select item 2391564	NM_000811.3(GABRA6):c.970G>A (p.Val324Ile)	GABRA6 (V324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372924	NM_000811.3(GABRA6):c.1252G>C (p.Asp418His)	GABRA6 (D418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363427	NM_000811.3(GABRA6):c.1265G>A (p.Arg422Gln)	GABRA6 (R422Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334764	NM_000811.3(GABRA6):c.5C>T (p.Ala2Val)	GABRA6 (A2V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281389	NM_000811.3(GABRA6):c.920T>A (p.Ile307Lys)	GABRA6 (I307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275236	NM_000811.3(GABRA6):c.580T>A (p.Tyr194Asn)	GABRA6 (Y194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251122	NM_000811.3(GABRA6):c.665C>A (p.Ser222Tyr)	GABRA6 (S222Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207783	NM_000811.3(GABRA6):c.1094A>C (p.Asp365Ala)	GABRA6 (D365A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, SLU7 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808993	GRCh37/hg19 5q33.3-34(chr5:159535230-161656766)x3	ATP10B, C1QTNF2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 1325612	NM_000811.3(GABRA6):c.1078del (p.Ile360fs)	GABRA6 (I360fs)	Deletion (frameshift variant)	Seizure	GUncertain significance
Select item 1325603	NM_000811.3(GABRA6):c.167C>G (p.Thr56Ser)	GABRA6 (T56S)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1169913	NM_000811.3(GABRA6):c.*135C>T	GABRA6	Single nucleotide variant (3 prime UTR variant)	Childhood absence epilepsy	GBenign
Select item 1169912	NM_000811.3(GABRA6):c.1344C>G (p.Val448=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 1169911	NM_000811.3(GABRA6):c.1005C>G (p.Ala335=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 1169910	NM_000811.3(GABRA6):c.951G>T (p.Ala317=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 1169909	NM_000811.3(GABRA6):c.9G>A (p.Ser3=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 1168450	NM_000811.3(GABRA6):c.1210C>T (p.Pro404Ser)	GABRA6 (P404S)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GBenign
Select item 1154309	NM_000811.3(GABRA6):c.1142T>C (p.Ile381Thr)	GABRA6 (I381T)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GLikely benign
Select item 1069674	NC_000005.9:g.(?_161128494)_(161580374_?)del	GABRA1, GABRA6 +1 more	Deletion	Idiopathic generalized epilepsy +2 more	GPathogenic
Select item 980748	GRCh37/hg19 5q34(chr5:160853366-161535511)x1	GABRA1, GABRA6 +2 more	Copy number loss	not provided	GPathogenic
Select item 833049	NC_000005.9:g.(?_160721068)_(161528343_?)del	GABRA1, GABRA6 +2 more	Deletion	Idiopathic generalized epilepsy +2 more	GPathogenic
Select item 814759	GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)x1	C1QTNF2, GABRB2 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 814757	GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1	GABRA1, PTTG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 789508	NM_000811.3(GABRA6):c.117G>A (p.Leu39=)	GABRA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789373	NM_000811.3(GABRA6):c.900C>T (p.Ala300=)	GABRA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783237	NM_000811.3(GABRA6):c.15G>T (p.Leu5=)	GABRA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767175	NM_000811.3(GABRA6):c.594C>A (p.Val198=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 766983	NM_000811.3(GABRA6):c.1086+10T>A	GABRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 754431	NM_000811.3(GABRA6):c.276G>A (p.Leu92=)	GABRA6, GABRA6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745544	NM_000811.3(GABRA6):c.226-7C>G	GABRA6, GABRA6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 715115	NM_000811.3(GABRA6):c.60A>G (p.Lys20=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 707554	NM_000811.3(GABRA6):c.805G>A (p.Val269Ile)	GABRA6 (V269I)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GBenign
Select item 707350	NM_000811.3(GABRA6):c.1009A>C (p.Arg337=)	GABRA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 644592	NM_000811.3(GABRA6):c.255G>C (p.Gln85His)	GABRA6, GABRA6-AS1 (Q85H)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GUncertain significance
Select item 563117	GRCh37/hg19 5q34(chr5:160470013-161126372)x1	GABRB2, GABRA6	Copy number loss	not provided	GUncertain significance
Select item 477870	NM_000811.3(GABRA6):c.847A>G (p.Met283Val)	GABRA6 (M283V)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GUncertain significance
Select item 477869	NM_000811.3(GABRA6):c.710A>G (p.Gln237Arg)	GABRA6 (Q237R)	Single nucleotide variant (missense variant)	Childhood absence epilepsy +1 more	GLikely benign
Select item 477868	NM_000811.3(GABRA6):c.663A>G (p.Lys221=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GLikely benign
Select item 477867	NM_000811.3(GABRA6):c.639A>G (p.Gln213=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 477866	NM_000811.3(GABRA6):c.560C>T (p.Thr187Met)	GABRA6 (T187M)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GBenign
Select item 477865	NM_000811.3(GABRA6):c.507T>C (p.Ala169=)	GABRA6, GABRA6-AS1	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GLikely benign
Select item 477864	NM_000811.3(GABRA6):c.371C>G (p.Ser124Cys)	GABRA6, GABRA6-AS1 (S124C)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GUncertain significance
Select item 477863	NM_000811.3(GABRA6):c.339G>A (p.Thr113=)	GABRA6, GABRA6-AS1	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GLikely benign
Select item 477862	NM_000811.3(GABRA6):c.1156G>A (p.Glu386Lys)	GABRA6 (E386K)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GLikely benign
Select item 477861	NM_000811.3(GABRA6):c.1053A>C (p.Lys351Asn)	GABRA6 (K351N)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GLikely benign
Select item 443157	GRCh37/hg19 5q34(chr5:160684919-161677172)x1	GABRA1, GABRA6 +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 443010	GRCh37/hg19 5q34(chr5:161013279-162065060)x3	GABRA1, GABRA6 +1 more	Copy number gain	See cases	GLikely benign
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 423810	NM_000811.3(GABRA6):c.1009del (p.Arg337fs)	GABRA6 (R337fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 85