CACNB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 1291527	NM_201596.3(CACNB2):c.-283C>T	CACNB2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 674367	NM_201596.3(CACNB2):c.-259C>A	CACNB2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1292372	NM_201596.3(CACNB2):c.-58G>A	CACNB2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 190719	NM_201596.3(CACNB2):c.-42C>A	CACNB2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1292373	NM_201596.3(CACNB2):c.-36G>A	CACNB2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 190720	NM_201596.3(CACNB2):c.-31G>A	CACNB2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 190721	NM_201596.3(CACNB2):c.-30G>A	CACNB2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 516098	NM_201596.3(CACNB2):c.-17G>T	CACNB2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 390947	NM_201596.3(CACNB2):c.-4G>A	CACNB2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 402476	NM_201596.3(CACNB2):c.1A>G (p.Met1Val)	CACNB2 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2584830	NM_201596.3(CACNB2):c.3G>A (p.Met1Ile)	CACNB2 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Brugada syndrome 4	GUncertain significance
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 190734	NM_201596.3(CACNB2):c.17del (p.Met6fs)	CACNB2 (M6fs)	Deletion (5 prime UTR variant +1 more)	not specified +1 more	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 190738	NM_201596.3(CACNB2):c.53C>T (p.Ala18Val)	CACNB2 (A18V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 669206	NM_201596.3(CACNB2):c.54G>C (p.Ala18=)	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 384804	NM_201596.3(CACNB2):c.84C>T (p.Asn28=)	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 383389	NM_201596.3(CACNB2):c.87G>T (p.Val29=)	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 386017	NM_201596.3(CACNB2):c.96G>A (p.Ala32=)	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 190733	NM_201596.3(CACNB2):c.100G>T (p.Ala34Ser)	CACNB2 (A34S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 383672	NM_201596.3(CACNB2):c.102G>T (p.Ala34=)	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 191429	NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro)	CACNB2 (L35P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1235356	NM_201596.3(CACNB2):c.120+5C>A	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292374	NM_201596.3(CACNB2):c.120+125C>T	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1238565	NM_201596.3(CACNB2):c.120+181G>C	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1224662	NM_201596.3(CACNB2):c.120+196C>G	CACNB2	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1266504	NM_201596.3(CACNB2):c.120+287C>T	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 1284693	NM_201596.3(CACNB2):c.120+338T>C	CACNB2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 421938	NM_201596.3(CACNB2):c.120+360G>C	CACNB2	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 522254	NM_201596.3(CACNB2):c.120+366C>G	CACNB2	Single nucleotide variant (intron 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 1316285	NM_201596.3(CACNB2):c.120+384G>T	CACNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239345	NM_201596.3(CACNB2):c.120+435G>A	CACNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318377	NM_201596.3(CACNB2):c.120+665C>G	CACNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676354	NM_201596.3(CACNB2):c.121-219A>C	CACNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278461	NM_201596.3(CACNB2):c.121-65C>T	CACNB2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2640339	NM_201596.3(CACNB2):c.121-3_121-2insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	Insertion (intron variant)	not provided	GBenign
Select item 1284484	NM_201596.3(CACNB2):c.121-25_121-3dup	CACNB2	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1284387	NM_201596.3(CACNB2):c.121-17_121-3dup	CACNB2	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 522255	NM_201596.3(CACNB2):c.121-9_121-3del	CACNB2	Deletion (intron variant)	Brugada syndrome 4	GLikely benign
Select item 3065473	NM_201596.3(CACNB2):c.121-3_121-2insTTTTTTTTTTGT	CACNB2	Microsatellite (intron variant)	Brugada syndrome 4	GUncertain significance
Select item 2640340	NM_201596.3(CACNB2):c.121-3_121-2insTTTTTTTTTGT	CACNB2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2570767	NM_201596.3(CACNB2):c.121-3_121-2insTTTTTTGT	CACNB2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1299935	NM_201596.3(CACNB2):c.121-3_121-2insTTTGT	CACNB2	Microsatellite (intron variant)	not specified	GBenign
Select item 1284636	NM_201596.3(CACNB2):c.121-3_121-2insTGT	CACNB2	Insertion (intron variant)	not provided	GBenign
Select item 1284603	NM_201596.3(CACNB2):c.121-3_121-2insTTTTGT	CACNB2	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 218872	NM_201596.3(CACNB2):c.121-3_121-2insTTTTTGT	CACNB2	Insertion (intron variant)	not specified +1 more	GLikely benign
Select item 190712	NM_201596.3(CACNB2):c.121-4_121-3insG	CACNB2	Insertion (intron variant)	Cardiac arrhythmia	GBenign
Select item 136644	NM_201596.3(CACNB2):c.121-4T>G	CACNB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 226042	NM_201596.3(CACNB2):c.121-2A>T	CACNB2	Single nucleotide variant (splice acceptor variant)	Brugada syndrome +1 more	GUncertain significance
Select item 226043	NM_201596.3(CACNB2):c.121-1G>T	CACNB2	Single nucleotide variant (splice acceptor variant)	Brugada syndrome	GUncertain significance
Select item 190722	NM_201596.3(CACNB2):c.133G>A (p.Gly45Arg)	CACNB2 (G45R +1 more)	Single nucleotide variant (missense variant)	not provided	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 545669	NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys)	CACNB2 (R70C +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 190713	NM_201596.3(CACNB2):c.209G>A (p.Arg70His)	CACNB2 (R70H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1266972	NM_201596.3(CACNB2):c.213+22T>C	CACNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317596	NM_201596.3(CACNB2):c.213+89A>C	CACNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263467	NM_201596.3(CACNB2):c.213+312del	CACNB2	Deletion (intron variant)	not provided	GBenign
Select item 1259019	NM_201596.3(CACNB2):c.213+109737G>A	CACNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292375	NM_201596.3(CACNB2):c.213+109867G>T	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1262665	NM_201596.3(CACNB2):c.213+109985C>T	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1230144	NM_201596.3(CACNB2):c.213+109987A>G	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1222138	NM_201596.3(CACNB2):c.213+110046C>G	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1318375	NM_201596.3(CACNB2):c.213+110060C>A	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1266787	NM_201596.3(CACNB2):c.213+110129C>T	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 377619	NM_201596.3(CACNB2):c.213+110324G>T	CACNB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 190714	NM_201596.3(CACNB2):c.213+110332G>C	CACNB2 (R13P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 136645	NM_201596.3(CACNB2):c.213+110350T>G	CACNB2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 392554	NM_201596.3(CACNB2):c.213+110351C>A	CACNB2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1048926	NM_201596.3(CACNB2):c.213+110356G>T	CACNB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 673269	NM_201596.3(CACNB2):c.213+110392C>T	CACNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267353	NM_201596.3(CACNB2):c.213+110546G>A	CACNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669799	NM_201596.3(CACNB2):c.213+110592G>A	CACNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57884	GRCh38/hg38 10p12.33-12.31(chr10:18289967-19647340)x3	ARL5B, CACNB2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 673492	NM_201596.3(CACNB2):c.214-61327A>G	CACNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 368896	NM_201596.3(CACNB2):c.214-61251C>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome +2 more	GBenign/Likely benign
Select item 368897	NM_201596.3(CACNB2):c.214-61250G>A	CACNB2	Single nucleotide variant (intron variant)	Brugada syndrome +1 more	GBenign/Likely benign
Select item 1292376	NM_201596.3(CACNB2):c.214-61010G>C	CACNB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 1097358	NM_201590.3(CACNB2):c.12A>G (p.Arg4=)	CACNB2	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 4	GLikely benign
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 1523942	NM_201590.3(CACNB2):c.20T>C (p.Ile7Thr)	CACNB2 (I7T)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 4	GUncertain significance
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

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