ClinVar for Gene (Select 783) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351794	NM_201596.3(CACNB2):c.120+332G>T	CACNB2 (Q3H)	Single nucleotide variant (missense variant +1 more)	CACNB2-related disorder	GUncertain significance
Select item 3337885	NM_201596.3(CACNB2):c.686C>G (p.Ala229Gly)	CACNB2 (A174G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337884	NM_201596.3(CACNB2):c.262C>G (p.Leu88Val)	CACNB2 (L33V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3262865	NM_201596.3(CACNB2):c.1328A>G (p.Glu443Gly)	CACNB2 (E357G +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262864	NM_201596.3(CACNB2):c.1683G>C (p.Glu561Asp)	CACNB2 (E468D +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262863	NM_201596.3(CACNB2):c.385C>G (p.His129Asp)	CACNB2 (H74D +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262862	NM_201596.3(CACNB2):c.97G>A (p.Gly33Arg)	CACNB2 (G33R)	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3262861	NM_201596.3(CACNB2):c.716T>C (p.Ile239Thr)	CACNB2 (I191T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3262859	NM_201596.3(CACNB2):c.31C>A (p.Pro11Thr)	CACNB2 (P11T)	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3262858	NM_201596.3(CACNB2):c.805A>G (p.Thr269Ala)	CACNB2 (T215A +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262857	NM_201596.3(CACNB2):c.1449A>T (p.Ser483=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3262856	NM_201596.3(CACNB2):c.403G>A (p.Val135Met)	CACNB2 (V107M +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262855	NM_201596.3(CACNB2):c.394G>A (p.Asp132Asn)	CACNB2 (D132N +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262854	NM_201596.3(CACNB2):c.1374G>T (p.Glu458Asp)	CACNB2 (E392D +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262853	NM_201596.3(CACNB2):c.1727A>G (p.His576Arg)	CACNB2 (H521R +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262852	NM_201596.3(CACNB2):c.1884T>C (p.His628=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3262849	NM_201596.3(CACNB2):c.1615C>G (p.His539Asp)	CACNB2 (H453D +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262848	NM_201596.3(CACNB2):c.1277C>T (p.Ala426Val)	CACNB2 (A398V +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262847	NM_201596.3(CACNB2):c.1523C>T (p.Ala508Val)	CACNB2 (A442V +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3262846	NM_201596.3(CACNB2):c.1649C>T (p.Ser550Phe)	CACNB2 (S464F +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230210	NM_201596.3(CACNB2):c.1152C>T (p.Leu384=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230209	NM_201596.3(CACNB2):c.246C>T (p.Ser82=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230208	NM_201596.3(CACNB2):c.995T>C (p.Val332Ala)	CACNB2 (V239A +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230207	NM_201596.3(CACNB2):c.761C>T (p.Thr254Met)	CACNB2 (T199M +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3230206	NM_201596.3(CACNB2):c.651A>G (p.Lys217=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230205	NM_201596.3(CACNB2):c.610T>A (p.Ser204Thr)	CACNB2 (S149T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230204	NM_201596.3(CACNB2):c.596A>C (p.Lys199Thr)	CACNB2 (K144T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230203	NM_201596.3(CACNB2):c.593+5G>A	CACNB2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230202	NM_201596.3(CACNB2):c.579G>A (p.Gly193=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230201	NM_201596.3(CACNB2):c.510C>A (p.Ile170=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230200	NM_201596.3(CACNB2):c.472T>C (p.Trp158Arg)	CACNB2 (W103R +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230199	NM_201596.3(CACNB2):c.459A>C (p.Lys153Asn)	CACNB2 (K125N +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230198	NM_201596.3(CACNB2):c.447T>C (p.His149=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230197	NM_201596.3(CACNB2):c.431C>T (p.Ala144Val)	CACNB2 (A116V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230196	NM_201596.3(CACNB2):c.348A>C (p.Ala116=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230195	NM_201596.3(CACNB2):c.343G>C (p.Val115Leu)	CACNB2 (V115L +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230194	NM_201596.3(CACNB2):c.1692C>T (p.Asp564=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230193	NM_201596.3(CACNB2):c.1685G>A (p.Ser562Asn)	CACNB2 (S469N +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230192	NM_201596.3(CACNB2):c.1501G>C (p.Asp501His)	CACNB2 (D408H +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230191	NM_201596.3(CACNB2):c.1478C>G (p.Ser493Cys)	CACNB2 (S400C +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230190	NM_201596.3(CACNB2):c.1366T>C (p.Tyr456His)	CACNB2 (Y363H +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230189	NM_201596.3(CACNB2):c.1301_1302+6dup	CACNB2	Duplication (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3136490	NM_201596.3(CACNB2):c.934T>C (p.Phe312Leu)	CACNB2 (F257L +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3136489	NM_201596.3(CACNB2):c.4G>A (p.Val2Ile)	CACNB2 (V2I)	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3136488	NM_201596.3(CACNB2):c.1957A>C (p.Asn653His)	CACNB2 (N567H +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3136487	NM_201596.3(CACNB2):c.1900T>C (p.Tyr634His)	CACNB2 (Y579H +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3065473	NM_201596.3(CACNB2):c.121-3_121-2insTTTTTTTTTTGT	CACNB2	Microsatellite (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 3063179	GRCh37/hg19 10p12.31(chr10:18817509-18882774)x3	CACNB2, NSUN6	Copy number gain	not specified	GUncertain significance
Select item 3049050	NM_201596.3(CACNB2):c.214-874A>G	CACNB2 (R7G)	Single nucleotide variant (missense variant +1 more)	CACNB2-related disorder	GUncertain significance
Select item 3037771	NM_201596.3(CACNB2):c.121-18_121-3dup	CACNB2	Duplication (intron variant)	CACNB2-related disorder	GLikely benign
Select item 3037652	NM_201596.3(CACNB2):c.121-15_121-3dup	CACNB2	Duplication (intron variant)	CACNB2-related disorder	GLikely benign
Select item 3029473	NM_201596.3(CACNB2):c.1585C>G (p.Gln529Glu)	CACNB2 (Q436E +10 more)	Single nucleotide variant (missense variant)	CACNB2-related disorder	GUncertain significance
Select item 3023815	NM_201596.3(CACNB2):c.1528A>G (p.Ile510Val)	CACNB2 (I510V +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 3022293	NM_201596.3(CACNB2):c.885+20A>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3021001	NM_201596.3(CACNB2):c.1074C>A (p.Ile358=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 3020822	NM_201596.3(CACNB2):c.1752A>C (p.Ser584=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 3019718	NM_201596.3(CACNB2):c.944+12A>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3015897	NM_201596.3(CACNB2):c.804+17A>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3014743	NM_201596.3(CACNB2):c.333+14C>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3014244	NM_201596.3(CACNB2):c.786A>G (p.Arg262=)	CACNB2	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 4	GLikely benign
Select item 3014116	NM_201596.3(CACNB2):c.885+4G>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 3013611	NM_201596.3(CACNB2):c.1602C>T (p.Ser534=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 3009815	NM_201596.3(CACNB2):c.1489-11T>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3002546	NM_201596.3(CACNB2):c.252C>T (p.Ser84=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2994221	NM_201596.3(CACNB2):c.886-19_886-17del	CACNB2	Deletion (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2989512	NM_201596.3(CACNB2):c.594-12G>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2983586	NM_201596.3(CACNB2):c.944+15A>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2982152	NM_201596.3(CACNB2):c.1530C>T (p.Ile510=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2977853	NM_201596.3(CACNB2):c.457-20G>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2976804	NM_201596.3(CACNB2):c.334-18T>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2968595	NM_201596.3(CACNB2):c.297G>C (p.Ala99=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2966677	NM_201596.3(CACNB2):c.1726C>T (p.His576Tyr)	CACNB2 (H483Y +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2966183	NM_201596.3(CACNB2):c.910C>G (p.Leu304Val)	CACNB2 (L211V +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2965412	NM_201596.3(CACNB2):c.1290T>C (p.Ala430=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2962152	NM_201596.3(CACNB2):c.214-10T>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2959809	NM_201596.3(CACNB2):c.1302+11T>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2955699	NM_201596.3(CACNB2):c.831G>T (p.Val277=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2920796	NM_201596.3(CACNB2):c.120+379A>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GBenign
Select item 2917081	NM_201596.3(CACNB2):c.1753C>G (p.His585Asp)	CACNB2 (H499D +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2916840	NM_201596.3(CACNB2):c.1302+12_1302+16dup	CACNB2	Duplication (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2912288	NM_201596.3(CACNB2):c.1252C>T (p.His418Tyr)	CACNB2 (H380Y +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2910663	NM_201596.3(CACNB2):c.885+3G>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 2908750	NM_201596.3(CACNB2):c.644C>A (p.Ser215Tyr)	CACNB2 (S160Y +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2905057	NM_201596.3(CACNB2):c.1488+14T>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2900532	NM_201596.3(CACNB2):c.1368T>C (p.Tyr456=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2900181	NM_201596.3(CACNB2):c.1207-19A>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2899847	NM_201596.3(CACNB2):c.400C>G (p.Pro134Ala)	CACNB2 (P79A +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2897249	NM_201596.3(CACNB2):c.1185T>C (p.Tyr395=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2897227	NM_201596.3(CACNB2):c.1108T>C (p.Leu370=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2891866	NM_201596.3(CACNB2):c.1303-3C>T	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 2891809	NM_201596.3(CACNB2):c.768C>G (p.Pro256=)	CACNB2	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 4	GLikely benign
Select item 2886271	NM_201596.3(CACNB2):c.1715A>T (p.Glu572Val)	CACNB2 (E486V +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2885395	NM_201596.3(CACNB2):c.1296T>C (p.Cys432=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2885267	NM_201596.3(CACNB2):c.214-20A>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2884561	NM_201596.3(CACNB2):c.945-12T>C	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign
Select item 2872152	NM_201596.3(CACNB2):c.699T>C (p.Asp233=)	CACNB2	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 4	GLikely benign
Select item 2856025	NM_201596.3(CACNB2):c.1404C>T (p.Ser468=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4	GLikely benign
Select item 2853972	NM_201596.3(CACNB2):c.493A>G (p.Lys165Glu)	CACNB2 (K117E +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4	GUncertain significance
Select item 2853207	NM_201596.3(CACNB2):c.34_35insGAAGTCTTGTATAACTAACAGCATCAGTTTTGCCCGTTTGTGTTTTTTTTTTTTTTTTTT (p.Ter661=)	CACNB2	Insertion (no sequence alteration)	Brugada syndrome 4	GUncertain significance
Select item 2849749	NM_201596.3(CACNB2):c.670+16A>G	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome 4	GLikely benign

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