CACNB1 — 77 ClinVar variants
All ClinVar germline CACNB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
2 Pathogenic · 2 Benign · 6 Likely benign · 67 Uncertain significance
Full CACNB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CACNB1 p.Ala372Val Uncertain significance Single submitter
- CACNB1 p.Ala543Asp Uncertain significance Single submitter
- CACNB1 p.Arg106Trp Uncertain significance Single submitter
- CACNB1 p.Arg278His Uncertain significance Single submitter
- CACNB1 p.Arg308Gln Uncertain significance Single submitter
- CACNB1 p.Arg40Trp Uncertain significance Single submitter
- CACNB1 p.Arg457Gln Uncertain significance Single submitter
- CACNB1 p.Arg593Gly Uncertain significance Single submitter
- CACNB1 p.Arg66Cys Uncertain significance Single submitter
- CACNB1 p.Asn108Ser Uncertain significance Single submitter
- CACNB1 p.Asn283His Uncertain significance Single submitter
- CACNB1 p.Asn442Ser Uncertain significance Single submitter
- CACNB1 p.Asp24Asn Uncertain significance Single submitter
- CACNB1 p.Asp534Asn Uncertain significance Single submitter
- CACNB1 p.Asp534Glu Uncertain significance Single submitter
- CACNB1 p.Asp554Gly Uncertain significance Single submitter
- CACNB1 p.Gln317Lys Uncertain significance Single submitter
- CACNB1 p.Glu118Gly Uncertain significance Single submitter
- CACNB1 p.Glu399Lys Uncertain significance Single submitter
- CACNB1 p.Glu406Val Uncertain significance Single submitter
- CACNB1 p.Glu467Gln Uncertain significance Single submitter
- CACNB1 p.Gly147Arg Uncertain significance Single submitter
- CACNB1 p.Gly460Arg Uncertain significance Single submitter
- CACNB1 p.Gly590Asp Uncertain significance Single submitter
- CACNB1 p.Ile233Thr Uncertain significance Single submitter
- CACNB1 p.Met428Thr Uncertain significance Single submitter
- CACNB1 p.Pro14His Uncertain significance Single submitter
- CACNB1 p.Pro206Leu Uncertain significance Single submitter
- CACNB1 p.Pro221Leu Uncertain significance Single submitter
- CACNB1 p.Pro439Leu Uncertain significance Single submitter
- CACNB1 p.Pro446Thr Uncertain significance Single submitter
- CACNB1 p.Pro505Leu Uncertain significance Single submitter
- CACNB1 p.Ser441Phe Uncertain significance Single submitter
- CACNB1 p.Thr127Asn Uncertain significance Single submitter
- CACNB1 p.Thr199Ile Uncertain significance Single submitter
- CACNB1 p.Thr217Ala Uncertain significance Single submitter
- CACNB1 p.Thr430Ala Uncertain significance Single submitter
- CACNB1 p.Thr490Pro Uncertain significance Single submitter
- CACNB1 p.Trp548Leu Uncertain significance Single submitter
- CACNB1 p.Tyr404His Uncertain significance Single submitter
- CACNB1 p.Val244Phe Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- CACNB1 p.Ala330Thr Uncertain significance Single submitter
- CACNB1 p.Ala407Thr Uncertain significance Single submitter
- CACNB1 p.Ala80Gly Uncertain significance Single submitter
- CACNB1 p.Arg177Cys Uncertain significance Single submitter
- CACNB1 p.Arg177His Uncertain significance Single submitter
- CACNB1 p.Arg180Cys Uncertain significance Single submitter
- CACNB1 p.Arg563Trp Uncertain significance Single submitter
- CACNB1 p.Arg565Gln Uncertain significance Single submitter
- CACNB1 p.Arg567Trp Uncertain significance Single submitter
- CACNB1 p.Arg56Leu Uncertain significance Single submitter
- CACNB1 p.Arg583Cys Uncertain significance Single submitter
- CACNB1 p.Arg78Gln Uncertain significance Single submitter
- CACNB1 p.Arg87His Uncertain significance Single submitter
- CACNB1 p.Asn112Lys Uncertain significance Single submitter
- CACNB1 p.Glu551Ala Uncertain significance Single submitter
- CACNB1 p.Glu556Gly Uncertain significance Single submitter
- CACNB1 p.Gly531Trp Uncertain significance Single submitter
- CACNB1 p.Gly538Cys Uncertain significance Single submitter
- CACNB1 p.His219Arg Uncertain significance Single submitter
- CACNB1 p.Ile126Val Uncertain significance Single submitter
- CACNB1 p.Leu478Phe Uncertain significance Single submitter
- CACNB1 p.Pro381Thr Uncertain significance Single submitter
- CACNB1 p.Thr270Met Uncertain significance Single submitter
- CACNB1 p.Thr412Ala Uncertain significance Single submitter
- CACNB1 p.Val163Ile Uncertain significance Single submitter
- CACNB1 p.Val72Ile Uncertain significance Single submitter
All CACNB1 variants
Pathogenic 2
Likely benign 6
- c.628+426C>T Single submitter
- c.649-4C>A Single submitter
- p.Ala372= Single submitter
- p.Glu21= Single submitter
- p.Gly477= Single submitter
- p.Gly539Ser Single submitter
Uncertain significance 67
- p.Ala330Thr Single submitter ⚠
- p.Ala372Val Single submitter ⚠
- p.Ala407Thr Single submitter ⚠
- p.Ala543Asp Single submitter ⚠
- p.Ala80Gly Single submitter ⚠
- p.Arg106Trp Single submitter ⚠
- p.Arg177Cys Single submitter ⚠
- p.Arg177His Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg278His Single submitter ⚠
- p.Arg308Gln Single submitter ⚠
- p.Arg40Trp Single submitter ⚠
- p.Arg457Gln Single submitter ⚠
- p.Arg563Trp Single submitter ⚠
- p.Arg565Gln Single submitter ⚠
- p.Arg567Trp Single submitter ⚠
- p.Arg56Leu Single submitter ⚠
- p.Arg583Cys Single submitter ⚠
- p.Arg593Gly Single submitter ⚠
- p.Arg66Cys Single submitter ⚠
- p.Arg78Gln Single submitter ⚠
- p.Arg87His Single submitter ⚠
- p.Asn108Ser Single submitter ⚠
- p.Asn112Lys Single submitter ⚠
- p.Asn283His Single submitter ⚠
- p.Asn442Ser Single submitter ⚠
- p.Asp24Asn Single submitter ⚠
- p.Asp534Asn Single submitter ⚠
- p.Asp534Glu Single submitter ⚠
- p.Asp554Gly Single submitter ⚠
- p.Gln317Lys Single submitter ⚠
- p.Glu118Gly Single submitter ⚠
- p.Glu399Lys Single submitter ⚠
- p.Glu406Val Single submitter ⚠
- p.Glu467Gln Single submitter ⚠
- p.Glu551Ala Single submitter ⚠
- p.Glu556Gly Single submitter ⚠
- p.Gly147Arg Single submitter ⚠
- p.Gly460Arg Single submitter ⚠
- p.Gly531Trp Single submitter ⚠
- p.Gly538Cys Single submitter ⚠
- p.Gly590Asp Single submitter ⚠
- p.His219Arg Single submitter ⚠
- p.Ile126Val Single submitter ⚠
- p.Ile233Thr Single submitter ⚠
- p.Leu478Phe Single submitter ⚠
- p.Met428Thr Single submitter ⚠
- p.Pro14His Single submitter ⚠
- p.Pro206Leu Single submitter ⚠
- p.Pro221Leu Single submitter ⚠
- p.Pro381Thr Single submitter ⚠
- p.Pro439Leu Single submitter ⚠
- p.Pro446Thr Single submitter ⚠
- p.Pro505Leu Single submitter ⚠
- p.Ser441Phe Single submitter ⚠
- p.Thr127Asn Single submitter ⚠
- p.Thr199Ile Single submitter ⚠
- p.Thr217Ala Single submitter ⚠
- p.Thr270Met Single submitter ⚠
- p.Thr412Ala Single submitter ⚠
- p.Thr430Ala Single submitter ⚠
- p.Thr490Pro Single submitter ⚠
- p.Trp548Leu Single submitter ⚠
- p.Tyr404His Single submitter ⚠
- p.Val163Ile Single submitter ⚠
- p.Val244Phe Single submitter ⚠
- p.Val72Ile Single submitter ⚠