CACNB3 — 68 ClinVar variants
All ClinVar germline CACNB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
1 Benign · 67 Uncertain significance
Full CACNB3 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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CACNB3 p.Ala199Ser Uncertain significance Single submitter
- CACNB3 p.Ala199Val Uncertain significance Single submitter
- CACNB3 p.Ala63Val Uncertain significance Single submitter
- CACNB3 p.Arg107Trp Uncertain significance Single submitter
- CACNB3 p.Arg123Cys Uncertain significance Single submitter
- CACNB3 p.Arg123Ser Uncertain significance Single submitter
- CACNB3 p.Arg150Gln Uncertain significance Single submitter
- CACNB3 p.Arg24Cys Uncertain significance Single submitter
- CACNB3 p.Arg24Leu Uncertain significance Single submitter
- CACNB3 p.Arg302Cys Uncertain significance Single submitter
- CACNB3 p.Arg388His Uncertain significance Single submitter
- CACNB3 p.Arg397Gln Uncertain significance Single submitter
- CACNB3 p.Arg420His Uncertain significance Single submitter
- CACNB3 p.Arg441His Uncertain significance Single submitter
- CACNB3 p.Asp463Asn Uncertain significance Single submitter
- CACNB3 p.Gln383Lys Uncertain significance Single submitter
- CACNB3 p.Glu35Lys Uncertain significance Single submitter
- CACNB3 p.Glu387Asp Uncertain significance Single submitter
- CACNB3 p.Glu408Lys Uncertain significance Single submitter
- CACNB3 p.Gly106Arg Uncertain significance Single submitter
- CACNB3 p.Gly386Ala Uncertain significance Single submitter
- CACNB3 p.Gly452Arg Uncertain significance Single submitter
- CACNB3 p.His468Asp Uncertain significance Single submitter
- CACNB3 p.His94Tyr Uncertain significance Single submitter
- CACNB3 p.Ile147Phe Uncertain significance Single submitter
- CACNB3 p.Ile247Val Uncertain significance Single submitter
- CACNB3 p.Leu200Pro Uncertain significance Single submitter
- CACNB3 p.Leu400Ser Uncertain significance Single submitter
- CACNB3 p.Leu425Val Uncertain significance Single submitter
- CACNB3 p.Phe333Leu Uncertain significance Single submitter
- CACNB3 p.Pro141Ala Uncertain significance Single submitter
- CACNB3 p.Pro373Ala Uncertain significance Single submitter
- CACNB3 p.Pro377Ala Uncertain significance Single submitter
- CACNB3 p.Pro394Leu Uncertain significance Single submitter
- CACNB3 p.Pro480Arg Uncertain significance Single submitter
- CACNB3 p.Ser284Leu Uncertain significance Single submitter
- CACNB3 p.Ser295Phe Uncertain significance Single submitter
- CACNB3 p.Ser374Gly Uncertain significance Single submitter
- CACNB3 p.Ser483Asn Uncertain significance Single submitter
- CACNB3 p.Tyr2Cys Uncertain significance Single submitter
- CACNB3 p.Tyr2Phe Uncertain significance Single submitter
- CACNB3 p.Tyr6Cys Uncertain significance Single submitter
- CACNB3 p.Val168Ile Uncertain significance Single submitter
- CACNB3 p.Val173Met Uncertain significance Single submitter
- CACNB3 p.Val183Leu Uncertain significance Single submitter
- CACNB3 p.Val44Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CACNB3 p.Arg123His Uncertain significance Single submitter
- CACNB3 p.Arg151Cys Uncertain significance Single submitter
- CACNB3 p.Arg37Gln Uncertain significance Single submitter
- CACNB3 p.Arg397Trp Uncertain significance Single submitter
- CACNB3 p.Arg41Gln Uncertain significance Single submitter
- CACNB3 p.Arg423Cys Uncertain significance Single submitter
- CACNB3 p.Arg441Cys Uncertain significance Single submitter
- CACNB3 p.Arg475Cys Uncertain significance Single submitter
- CACNB3 p.Arg477Trp Uncertain significance Single submitter
- CACNB3 p.Asn101His Uncertain significance Single submitter
- CACNB3 p.Gln131Leu Uncertain significance Single submitter
- CACNB3 p.Glu53Lys Uncertain significance Single submitter
- CACNB3 p.Gly233Asp Uncertain significance Single submitter
- CACNB3 p.Ile127Val Uncertain significance Single submitter
- CACNB3 p.Pro329Ser Uncertain significance Single submitter
- CACNB3 p.Ser13Leu Uncertain significance Single submitter
- CACNB3 p.Ser241Ala Uncertain significance Single submitter
- CACNB3 p.Tyr21Cys Uncertain significance Single submitter
- CACNB3 p.Val290Ile Uncertain significance Single submitter
- CACNB3 p.Val31Ile Uncertain significance Single submitter
- CACNB3 p.Val355Phe Uncertain significance Single submitter
All CACNB3 variants
Benign 1
- c.408-8C>A Single submitter
Uncertain significance 67
- p.Ala199Ser Single submitter ⚠
- p.Ala199Val Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Arg107Trp Single submitter ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg123Ser Single submitter ⚠
- p.Arg150Gln Single submitter ⚠
- p.Arg151Cys Single submitter ⚠
- p.Arg24Cys Single submitter ⚠
- p.Arg24Leu Single submitter ⚠
- p.Arg302Cys Single submitter ⚠
- p.Arg37Gln Single submitter ⚠
- p.Arg388His Single submitter ⚠
- p.Arg397Gln Single submitter ⚠
- p.Arg397Trp Single submitter ⚠
- p.Arg41Gln Single submitter ⚠
- p.Arg420His Single submitter ⚠
- p.Arg423Cys Single submitter ⚠
- p.Arg441Cys Single submitter ⚠
- p.Arg441His Single submitter ⚠
- p.Arg475Cys Single submitter ⚠
- p.Arg477Trp Single submitter ⚠
- p.Asn101His Single submitter ⚠
- p.Asp463Asn Single submitter ⚠
- p.Gln131Leu Single submitter ⚠
- p.Gln383Lys Single submitter ⚠
- p.Glu35Lys Single submitter ⚠
- p.Glu387Asp Single submitter ⚠
- p.Glu408Lys Single submitter ⚠
- p.Glu53Lys Single submitter ⚠
- p.Gly106Arg Single submitter ⚠
- p.Gly233Asp Single submitter ⚠
- p.Gly386Ala Single submitter ⚠
- p.Gly452Arg Single submitter ⚠
- p.His468Asp Single submitter ⚠
- p.His94Tyr Single submitter ⚠
- p.Ile127Val Single submitter ⚠
- p.Ile147Phe Single submitter ⚠
- p.Ile247Val Single submitter ⚠
- p.Leu200Pro Single submitter ⚠
- p.Leu400Ser Single submitter ⚠
- p.Leu425Val Single submitter ⚠
- p.Phe333Leu Single submitter ⚠
- p.Pro141Ala Single submitter ⚠
- p.Pro329Ser Single submitter ⚠
- p.Pro373Ala Single submitter ⚠
- p.Pro377Ala Single submitter ⚠
- p.Pro394Leu Single submitter ⚠
- p.Pro480Arg Single submitter ⚠
- p.Ser13Leu Single submitter ⚠
- p.Ser241Ala Single submitter ⚠
- p.Ser284Leu Single submitter ⚠
- p.Ser295Phe Single submitter ⚠
- p.Ser374Gly Single submitter ⚠
- p.Ser483Asn Single submitter ⚠
- p.Tyr21Cys Single submitter ⚠
- p.Tyr2Cys Single submitter ⚠
- p.Tyr2Phe Single submitter ⚠
- p.Tyr6Cys Single submitter ⚠
- p.Val168Ile Single submitter ⚠
- p.Val173Met Single submitter ⚠
- p.Val183Leu Single submitter ⚠
- p.Val290Ile Single submitter ⚠
- p.Val31Ile Single submitter ⚠
- p.Val355Phe Single submitter ⚠
- p.Val44Ile Single submitter ⚠