CAPZB — 15 ClinVar variants
All ClinVar germline CAPZB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
3 Likely benign · 12 Uncertain significance
Full CAPZB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPZB c.731+1520A>G Uncertain significance Single submitter
- CAPZB c.731+1568G>A Uncertain significance Single submitter
- CAPZB p.Cys147Ser Uncertain significance Single submitter
- CAPZB p.Tyr107Cys Uncertain significance Single submitter
- CAPZB p.Val154Ile Uncertain significance Single submitter
- CAPZB p.Val240Phe Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CAPZB variants
Likely benign 3
- c.731+1505C>T Single submitter
- c.93+4C>T Single submitter
- p.Thr164= Single submitter
Uncertain significance 12
- c.731+1496C>G Single submitter ⚠
- c.731+1519C>A Single submitter
- c.731+1520A>G Single submitter ⚠
- c.731+1568G>A Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Cys147Ser Single submitter ⚠
- p.Met88Val Single submitter ⚠
- p.Ser34Cys Single submitter ⚠
- p.Thr164Ile Single submitter ⚠
- p.Tyr107Cys Single submitter ⚠
- p.Val154Ile Single submitter ⚠
- p.Val240Phe Single submitter ⚠