"Ambry Genetics"[submitter] AND "CACNB2"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 380

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2270509	NM_201596.3(CACNB2):c.60G>C (p.Glu20Asp)	CACNB2 (E20D)	Single nucleotide variant (5 prime UTR variant +1 more)	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 2508138	NM_201596.3(CACNB2):c.155T>G (p.Phe52Cys)	CACNB2 (F24C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2311500	NM_201596.3(CACNB2):c.200G>C (p.Ser67Thr)	CACNB2 (S67T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 519552	NM_201596.3(CACNB2):c.214-61001T>C	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 519519	NM_201596.3(CACNB2):c.214-61000A>G	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1798664	NM_201596.3(CACNB2):c.214-60999G>A	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 469644	NM_201590.3(CACNB2):c.2T>C (p.Met1Thr)	CACNB2 (M1T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2026707	NM_201590.3(CACNB2):c.8A>G (p.Asp3Gly)	CACNB2 (D3G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1771760	NM_201590.3(CACNB2):c.13C>T (p.Arg5Cys)	CACNB2 (R5C)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 4 +1 more	GUncertain significance
Select item 1094362	NM_201590.3(CACNB2):c.15C>A (p.Arg5=)	CACNB2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1793643	NM_201590.3(CACNB2):c.25C>G (p.Pro9Ala)	CACNB2 (P9A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1793639	NM_201590.3(CACNB2):c.25C>A (p.Pro9Thr)	CACNB2 (P9T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1740297	NM_201590.3(CACNB2):c.43A>G (p.Ile15Val)	CACNB2 (I15V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1742529	NM_201590.3(CACNB2):c.46C>A (p.Pro16Thr)	CACNB2 (P16T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1746027	NM_201590.3(CACNB2):c.51G>C (p.Gly17=)	CACNB2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1746282	NM_201596.3(CACNB2):c.214-3C>T	CACNB2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 263347	NM_201596.3(CACNB2):c.219G>A (p.Ser73=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1751583	NM_201596.3(CACNB2):c.222A>G (p.Ala74=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447827	NM_201596.3(CACNB2):c.239G>A (p.Arg80His)	CACNB2 (R25H +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230209	NM_201596.3(CACNB2):c.246C>T (p.Ser82=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1127184	NM_201596.3(CACNB2):c.246C>G (p.Ser82=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +1 more	GLikely benign
Select item 2447823	NM_201596.3(CACNB2):c.253G>A (p.Asp85Asn)	CACNB2 (D30N +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766175	NM_201596.3(CACNB2):c.253G>C (p.Asp85His)	CACNB2 (D31H +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1797210	NM_201596.3(CACNB2):c.273C>T (p.Asp91=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2625183	NM_201596.3(CACNB2):c.276G>A (p.Arg92=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1746813	NM_201596.3(CACNB2):c.281C>G (p.Ala94Gly)	CACNB2 (A66G +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447820	NM_201596.3(CACNB2):c.289A>G (p.Arg97Gly)	CACNB2 (R97G +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 577052	NM_201596.3(CACNB2):c.290G>C (p.Arg97Thr)	CACNB2 (R43T +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +1 more	GUncertain significance
Select item 2604899	NM_201596.3(CACNB2):c.296C>A (p.Ala99Glu)	CACNB2 (A45E +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2622712	NM_201596.3(CACNB2):c.298G>A (p.Glu100Lys)	CACNB2 (E72K +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447826	NM_201596.3(CACNB2):c.299A>T (p.Glu100Val)	CACNB2 (E100V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1097286	NM_201596.3(CACNB2):c.306G>A (p.Gln102=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1049212	NM_201596.3(CACNB2):c.314C>G (p.Ala105Gly)	CACNB2 (A105G +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1775480	NM_201596.3(CACNB2):c.318G>A (p.Gln106=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +1 more	GLikely benign
Select item 537378	NM_201596.3(CACNB2):c.339G>A (p.Lys113=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1014589	NM_201596.3(CACNB2):c.340C>T (p.Pro114Ser)	CACNB2 (P114S +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +1 more	GUncertain significance
Select item 953245	NM_201596.3(CACNB2):c.340C>G (p.Pro114Ala)	CACNB2 (P66A +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +1 more	GUncertain significance
Select item 537377	NM_201596.3(CACNB2):c.342C>T (p.Pro114=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely 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 1406289	NM_201596.3(CACNB2):c.343G>A (p.Val115Ile)	CACNB2 (V115I +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 645733	NM_201596.3(CACNB2):c.353C>T (p.Ala118Val)	CACNB2 (A63V +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +1 more	GUncertain significance
Select item 1124516	NM_201596.3(CACNB2):c.354G>T (p.Ala118=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +1 more	GLikely benign
Select item 299552	NM_201596.3(CACNB2):c.354G>A (p.Ala118=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +2 more	GBenign/Likely benign
Select item 1398592	NM_201596.3(CACNB2):c.358C>T (p.Arg120Trp)	CACNB2 (R65W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 299553	NM_201596.3(CACNB2):c.360G>A (p.Arg120=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +1 more	GLikely benign
Select item 161209	NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)	CACNB2 (A127V +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 1130755	NM_201596.3(CACNB2):c.381G>A (p.Ala127=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1377949	NM_201596.3(CACNB2):c.383C>T (p.Ala128Val)	CACNB2 (A100V +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +1 more	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 1788389	NM_201596.3(CACNB2):c.386A>T (p.His129Leu)	CACNB2 (H81L +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 518827	NM_201596.3(CACNB2):c.394G>T (p.Asp132Tyr)	CACNB2 (D132Y +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 411703	NM_201596.3(CACNB2):c.403G>T (p.Val135Leu)	CACNB2 (V81L +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1791454	NM_201596.3(CACNB2):c.406C>A (p.Pro136Thr)	CACNB2 (P81T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 418769	NM_201596.3(CACNB2):c.410G>A (p.Gly137Asp)	CACNB2 (G137D +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2293940	NM_201596.3(CACNB2):c.415G>A (p.Ala139Thr)	CACNB2 (A84T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 264132	NM_201596.3(CACNB2):c.415G>T (p.Ala139Ser)	CACNB2 (A139S +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +1 more	GUncertain significance
Select item 2625180	NM_201596.3(CACNB2):c.418A>G (p.Ile140Val)	CACNB2 (I140V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 583181	NM_201596.3(CACNB2):c.424T>C (p.Phe142Leu)	CACNB2 (F142L +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 299555	NM_201596.3(CACNB2):c.426C>T (p.Phe142=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +2 more	GBenign/Likely 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 1795022	NM_201596.3(CACNB2):c.432A>G (p.Ala144=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1795547	NM_201596.3(CACNB2):c.436G>T (p.Asp146Tyr)	CACNB2 (D91Y +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625179	NM_201596.3(CACNB2):c.444G>A (p.Leu148=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230198	NM_201596.3(CACNB2):c.447T>C (p.His149=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1796944	NM_201596.3(CACNB2):c.447T>A (p.His149Gln)	CACNB2 (H149Q +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1047443	NM_201596.3(CACNB2):c.448G>A (p.Val150Ile)	CACNB2 (V122I +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +1 more	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 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 2562824	NM_201596.3(CACNB2):c.479T>C (p.Ile160Thr)	CACNB2 (I106T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 469645	NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln)	CACNB2 (R108Q +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +2 more	GUncertain significance
Select item 1156527	NM_201596.3(CACNB2):c.492A>G (p.Val164=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +1 more	GLikely benign
Select item 691656	NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr)	CACNB2 (C140Y +4 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 3230201	NM_201596.3(CACNB2):c.510C>A (p.Ile170=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1629451	NM_201596.3(CACNB2):c.510C>T (p.Ile170=)	CACNB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1523078	NM_201596.3(CACNB2):c.511G>A (p.Gly171Arg)	CACNB2 (G143R +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +2 more	GUncertain significance
Select item 1732671	NM_201596.3(CACNB2):c.517A>G (p.Ile173Val)	CACNB2 (I125V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 411702	NM_201596.3(CACNB2):c.544A>G (p.Met182Val)	CACNB2 (M128V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1736490	NM_201596.3(CACNB2):c.557A>C (p.His186Pro)	CACNB2 (H131P +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737356	NM_201596.3(CACNB2):c.566G>T (p.Arg189Ile)	CACNB2 (R141I +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2064448	NM_201596.3(CACNB2):c.570C>T (p.Ala190=)	CACNB2	Single nucleotide variant (synonymous variant)	Brugada syndrome 4 +1 more	GLikely benign
Select item 1737992	NM_201596.3(CACNB2):c.573G>A (p.Lys191=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 695827	NM_201596.3(CACNB2):c.576A>G (p.Gln192=)	CACNB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3230202	NM_201596.3(CACNB2):c.579G>A (p.Gly193=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 161210	NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)	CACNB2 (S142F +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3230203	NM_201596.3(CACNB2):c.593+5G>A	CACNB2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1739779	NM_201596.3(CACNB2):c.594T>C (p.Ser198=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1740540	NM_201596.3(CACNB2):c.604G>A (p.Gly202Arg)	CACNB2 (G148R +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 264257	NM_201596.3(CACNB2):c.622T>C (p.Leu208=)	CACNB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1019327	NM_201596.3(CACNB2):c.631A>G (p.Ile211Val)	CACNB2 (I156V +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +1 more	GUncertain significance
Select item 1101984	NM_201596.3(CACNB2):c.634G>C (p.Val212Leu)	CACNB2 (V157L +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 161211	NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)	CACNB2 (S159T +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1743835	NM_201596.3(CACNB2):c.650A>G (p.Lys217Arg)	CACNB2 (K163R +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

<< First< Prev

Page of 4