Unique variants in gene CACNB4

Information The variants shown are described using the NM_000726.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-25G>T likely benign r.(?) p.(=) g.152955550C>A - CACNB4(NM_000726.4):c.-25G>T - CACNB4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5C>T likely benign r.(?) p.(Ser2Phe) g.152955521G>A - CACNB4(NM_000726.4):c.5C>T (p.S2F) - CACNB4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.8C>T likely benign r.(?) p.(Ser3Phe) g.152955518G>A - CACNB4(NM_000726.4):c.8C>T (p.S3F) - CACNB4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.40G>A VUS r.(?) p.(Gly14Arg) g.152955486C>T - CACNB4(NM_000726.4):c.40G>A (p.G14R) - CACNB4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.44C>G likely benign r.(?) p.(Pro15Arg) g.152955482G>C - CACNB4(NM_000726.4):c.44C>G (p.P15R) - CACNB4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.64-225G>A likely benign r.(=) p.(=) g.152955152C>T - CACNB4(NM_001005746.3):c.9+3G>A - CACNB4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.64-207C>T likely benign r.(=) p.(=) g.152955134G>A - CACNB4(NM_000726.4):c.64-207C>T - CACNB4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.147+53C>G benign r.(=) p.(=) g.152954791G>C - CACNB4(NM_000726.4):c.147+53C>G - CACNB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.148-90285T>C likely benign r.(=) p.(=) g.152830169A>G - CACNB4(NM_001005747.3):c.45+14T>C - CACNB4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.148-90227C>T benign r.(=) p.(=) g.152830111G>A - CACNB4(NM_001005747.3):c.45+72C>T - CACNB4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.148-90227dup likely benign r.(=) p.(=) g.152830117dup - CACNB4(NM_001005747.3):c.45+72dupC - CACNB4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.148-87997C>A benign r.(=) p.(=) g.152827881G>T - CACNB4(NM_001005747.3):c.45+2302C>A - CACNB4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.268-36C>T benign r.(=) p.(=) g.152737472G>A - CACNB4(NM_001005747.3):c.166-36C>T - CACNB4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.268-16A>G benign r.(=) p.(=) g.152737452T>C - CACNB4(NM_001005747.3):c.166-16A>G - CACNB4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.272A>T VUS r.(?) p.(Lys91Ile) g.152737432T>A - CACNB4(NM_001005747.3):c.170A>T (p.K57I) - CACNB4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 1 - c.301G>C VUS r.(?) p.(Val101Leu) g.152737403C>G - CACNB4(NM_000726.4):c.301G>C (p.V101L) - CACNB4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 - c.311G>T VUS r.(?) p.(Cys104Phe) g.152737393C>A - CACNB4(NM_001005747.3):c.209G>T (p.C70F), CACNB4(NM_001320722.2):c.170G>T (p.C57F) - CACNB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Groningen
-/. 1 - c.391-13T>G benign r.(=) p.(=) g.152733083A>C - CACNB4(NM_000726.4):c.391-13T>G - CACNB4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.507A>G likely benign r.(?) p.(=) g.152732954T>C - CACNB4(NM_001320722.2):c.366A>G (p.G122=) - CACNB4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.522-175T>G likely benign r.(=) p.(=) g.152729182A>C - CACNB4(NM_001005747.3):c.420-175T>G - CACNB4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.598+326A>T likely benign r.(=) p.(=) g.152728605T>A - CACNB4(NM_001005747.3):c.496+326A>T - CACNB4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.598+336A>T likely benign r.(=) p.(=) g.152728595T>A - CACNB4(NM_001005747.3):c.496+336A>T - CACNB4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.599-15G>A benign, likely benign r.(=) p.(=) g.152727390C>T - CACNB4(NM_000726.4):c.599-15G>A - CACNB4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-/. 1 - c.655A>G benign r.(?) p.(Met219Val) g.152727089T>C - CACNB4(NM_001330114.1):c.1A>G (p.M1?) - CACNB4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.762T>A benign r.(?) p.(=) g.152717331A>T - CACNB4(NM_000726.4):c.762T>A (p.I254=) - CACNB4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.771G>A likely benign r.(?) p.(=) g.152717322C>T - CACNB4(NM_001330117.1):c.213G>A (p.T71=) - CACNB4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.792T>C likely benign r.(?) p.(=) g.152717301A>G - CACNB4(NM_001330117.1):c.234T>C (p.S78=) - CACNB4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.844C>T VUS r.(?) p.(Arg282Cys) g.152717249G>A - CACNB4(NM_001005747.3):c.742C>T (p.R248C) - CACNB4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.845G>A VUS r.(?) p.(Arg282His) g.152717248C>T - CACNB4(NM_001330117.1):c.287G>A (p.R96H) - CACNB4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.868+103C>A likely benign r.(=) p.(=) g.152717122G>T - CACNB4(NM_001005747.3):c.766+103C>A - CACNB4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1020+13T>G likely benign r.(=) p.(=) g.152711725A>C - CACNB4(NM_001005747.3):c.918+13T>G - CACNB4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1116+18T>C likely benign r.(=) p.(=) g.152709944A>G - CACNB4(NM_001005747.3):c.1014+18T>C - CACNB4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1116+161T>C likely benign r.(=) p.(=) g.152709801A>G - CACNB4(NM_001005747.3):c.1014+161T>C - CACNB4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1239G>A benign r.(?) p.(=) g.152698480C>T - CACNB4(NM_000726.4):c.1239G>A (p.L413=) - CACNB4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1303-135T>G likely benign r.(=) p.(=) g.152696028A>C - CACNB4(NM_001005747.3):c.1201-135T>G - CACNB4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 3 - c.1303-3T>C VUS, likely benign r.spl? p.? g.152695896A>G - 1 more item - CACNB4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.1413G>A likely benign r.(?) p.(=) g.152695783C>T - CACNB4(NM_001005747.3):c.1311G>A (p.R437=) - CACNB4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1536T>C likely benign r.(?) p.(=) g.152695660A>G - CACNB4(NM_001005747.3):c.1434T>C (p.Y478=) - CACNB4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*151del benign r.(?) p.(=) g.152695492del - CACNB4(NM_001005747.3):c.*151delA - CACNB4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*10736T>C likely benign r.(=) p.(=) g.152684897A>G - ARL5A(NM_001037174.1):c.-64+2T>C (p.(=)) - ARL5A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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