ClinVar for Gene (Select 2560) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 367

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236263	NM_000812.4(GABRB1):c.1399G>T (p.Val467Phe)	GABRB1 (V467F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GUncertain significance
Select item 3233857	NM_000812.4(GABRB1):c.249A>G (p.Thr83=)	GABRB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3097826	NM_000812.4(GABRB1):c.92C>T (p.Pro31Leu)	GABRB1 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097825	NM_000812.4(GABRB1):c.27T>A (p.Ser9Arg)	GABRB1 (S9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3034090	NM_000812.4(GABRB1):c.1389T>G (p.Leu463=)	GABRB1	Single nucleotide variant (synonymous variant)	GABRB1-related disorder	GLikely benign
Select item 3029793	NM_000812.4(GABRB1):c.33G>T (p.Gly11=)	GABRB1	Single nucleotide variant (synonymous variant)	GABRB1-related disorder	GLikely benign
Select item 3027000	NM_000812.4(GABRB1):c.914C>T (p.Ala305Val)	GABRB1 (A305V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3024632	GRCh37/hg19 4p12(chr4:47163266-47538581)x3	ATP10D, COMMD8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	DDX60L, MTHFD2L +537 more	Copy number gain	not provided	GPathogenic
Select item 3014165	NM_000812.4(GABRB1):c.846A>T (p.Thr282=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013154	NM_000812.4(GABRB1):c.712C>T (p.Arg238Cys)	GABRB1 (R238C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013068	NM_000812.4(GABRB1):c.564C>T (p.Asp188=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009355	NM_000812.4(GABRB1):c.1080+9T>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008740	NM_000812.4(GABRB1):c.175C>T (p.Pro59Ser)	GABRB1 (P59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008022	NM_000812.4(GABRB1):c.20G>A (p.Arg7Gln)	GABRB1 (R7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007564	NM_000812.4(GABRB1):c.504T>C (p.Tyr168=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003879	NM_000812.4(GABRB1):c.1239C>T (p.Ala413=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003657	NM_000812.4(GABRB1):c.71G>T (p.Cys24Phe)	GABRB1 (C24F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001941	NM_000812.4(GABRB1):c.241-17C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3000466	NM_000812.4(GABRB1):c.619G>A (p.Glu207Lys)	GABRB1 (E207K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996747	NM_000812.4(GABRB1):c.682+6G>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2996118	NM_000812.4(GABRB1):c.1283G>A (p.Arg428His)	GABRB1 (R428H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993465	NM_000812.4(GABRB1):c.1219C>T (p.Pro407Ser)	GABRB1 (P407S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989853	NM_000812.4(GABRB1):c.682+19A>G	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986886	NM_000812.4(GABRB1):c.1080+16_1080+21dup	GABRB1	Duplication (intron variant)	not provided	GLikely benign
Select item 2986417	NM_000812.4(GABRB1):c.240+8G>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984081	NM_000812.4(GABRB1):c.1306C>A (p.Leu436Ile)	GABRB1 (L436I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981286	NM_000812.4(GABRB1):c.734A>G (p.Tyr245Cys)	GABRB1 (Y245C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979715	NM_000812.4(GABRB1):c.544+17G>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979603	NM_000812.4(GABRB1):c.835+7C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978867	NM_000812.4(GABRB1):c.240+19G>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978026	NM_000812.4(GABRB1):c.1086C>T (p.Asp362=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966472	NM_000812.4(GABRB1):c.252C>T (p.Leu84=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958998	NM_000812.4(GABRB1):c.1249G>A (p.Ala417Thr)	GABRB1 (A417T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906819	NM_000812.4(GABRB1):c.311T>G (p.Leu104Arg)	GABRB1 (L104R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898817	NM_000812.4(GABRB1):c.637A>G (p.Ile213Val)	GABRB1 (I213V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898259	NM_000812.4(GABRB1):c.58A>G (p.Thr20Ala)	GABRB1 (T20A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892561	NM_000812.4(GABRB1):c.172+7C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887445	NM_000812.4(GABRB1):c.882G>A (p.Arg294=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881925	NM_000812.4(GABRB1):c.61A>G (p.Met21Val)	GABRB1 (M21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881521	NM_000812.4(GABRB1):c.144T>C (p.Tyr48=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879457	NM_000812.4(GABRB1):c.172+18T>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876860	NM_000812.4(GABRB1):c.1139_1140delinsTT (p.Gly380Val)	GABRB1 (G380V)	Indel (missense variant)	not provided	GUncertain significance
Select item 2876859	NM_000812.4(GABRB1):c.1136G>C (p.Ser379Thr)	GABRB1 (S379T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874315	NM_000812.4(GABRB1):c.1224G>T (p.Leu408=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873240	NM_000812.4(GABRB1):c.46C>T (p.Pro16Ser)	GABRB1 (P16S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869254	NM_000812.4(GABRB1):c.1220C>G (p.Pro407Arg)	GABRB1 (P407R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867226	NM_000812.4(GABRB1):c.1214_1215delinsTT (p.Arg405Leu)	GABRB1 (R405L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2865271	NM_000812.4(GABRB1):c.837A>G (p.Gly279=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864832	NM_000812.4(GABRB1):c.544+11T>G	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864582	NM_000812.4(GABRB1):c.1045A>G (p.Asn349Asp)	GABRB1 (N349D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860548	NM_000812.4(GABRB1):c.173-6C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856828	NM_000812.4(GABRB1):c.789G>A (p.Val263=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855243	NM_000812.4(GABRB1):c.368T>A (p.Phe123Tyr)	GABRB1 (F123Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854019	NM_000812.4(GABRB1):c.461+19C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849296	NM_000812.4(GABRB1):c.1007C>A (p.Pro336His)	GABRB1 (P336H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844139	NM_000812.4(GABRB1):c.1321C>A (p.Pro441Thr)	GABRB1 (P441T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835037	NM_000812.4(GABRB1):c.1043C>T (p.Ala348Val)	GABRB1 (A348V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831643	NM_000812.4(GABRB1):c.241-2A>C	GABRB1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2830830	NM_000812.4(GABRB1):c.567T>C (p.Ile189=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828292	NM_000812.4(GABRB1):c.1080+13A>G	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827626	NM_000812.4(GABRB1):c.913G>A (p.Ala305Thr)	GABRB1 (A305T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827617	NM_000812.4(GABRB1):c.240+18G>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825813	NM_000812.4(GABRB1):c.215T>G (p.Ile72Arg)	GABRB1 (I72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825076	NM_000812.4(GABRB1):c.589G>C (p.Glu197Gln)	GABRB1 (E197Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824380	NM_000812.4(GABRB1):c.1080+1G>A	GABRB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2816492	NM_000812.4(GABRB1):c.461G>A (p.Arg154Gln)	GABRB1 (R154Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816270	NM_000812.4(GABRB1):c.1182G>T (p.Met394Ile)	GABRB1 (M394I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812993	NM_000812.4(GABRB1):c.127A>G (p.Arg43Gly)	GABRB1 (R43G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812881	NM_000812.4(GABRB1):c.1276A>C (p.Lys426Gln)	GABRB1 (K426Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811982	NM_000812.4(GABRB1):c.1080G>A (p.Gln360=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2811481	NM_000812.4(GABRB1):c.694C>T (p.Arg232Ter)	GABRB1 (R232*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2810581	NM_000812.4(GABRB1):c.462-6T>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809015	NM_000812.4(GABRB1):c.1084G>A (p.Asp362Asn)	GABRB1 (D362N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805990	NM_000812.4(GABRB1):c.1157G>A (p.Ser386Asn)	GABRB1 (S386N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800327	NM_000812.4(GABRB1):c.545-20G>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796877	NM_000812.4(GABRB1):c.461+7G>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795217	NM_000812.4(GABRB1):c.73G>T (p.Ala25Ser)	GABRB1 (A25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789895	NM_000812.4(GABRB1):c.178C>T (p.Pro60Ser)	GABRB1 (P60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782074	NM_000812.4(GABRB1):c.493C>G (p.Leu165Val)	GABRB1 (L165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775512	NM_000812.4(GABRB1):c.766C>T (p.Leu256=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769026	NM_000812.4(GABRB1):c.1065G>A (p.Glu355=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767384	NM_000812.4(GABRB1):c.510G>A (p.Leu170=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765973	NM_000812.4(GABRB1):c.1217A>G (p.Lys406Arg)	GABRB1 (K406R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752203	NM_000812.4(GABRB1):c.1401C>G (p.Val467=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752193	NM_000812.4(GABRB1):c.36T>A (p.Leu12=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749876	NM_000812.4(GABRB1):c.462-7C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749553	NM_000812.4(GABRB1):c.462-16C>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748414	NM_000812.4(GABRB1):c.835+1G>T	GABRB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2744700	NM_000812.4(GABRB1):c.645C>A (p.Asp215Glu)	GABRB1 (D215E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707575	NM_000812.4(GABRB1):c.653T>C (p.Met218Thr)	GABRB1 (M218T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705910	NM_000812.4(GABRB1):c.119C>G (p.Thr40Arg)	GABRB1 (T40R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698290	NM_000812.4(GABRB1):c.1013A>C (p.Lys338Thr)	GABRB1 (K338T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692913	NM_000812.4(GABRB1):c.63G>C (p.Met21Ile)	GABRB1 (M21I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685964	GRCh37/hg19 4p12(chr4:47375627-47618689)x3	ATP10D, COMMD8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2654747	NM_000812.4(GABRB1):c.744G>A (p.Leu248=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585086	NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly)	GABRB1 (A25G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GUncertain significance
Select item 2580841	NM_000812.4(GABRB1):c.1075G>A (p.Val359Ile)	GABRB1 (V359I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580117	NM_000812.4(GABRB1):c.866T>C (p.Ile289Thr)	GABRB1 (I289T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 4