CLBA1 — 6 ClinVar variants
All ClinVar germline CLBA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
1 Likely benign · 5 Uncertain significance
Full CLBA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 1
The independent predictors disagree with each other — read with care.
All CLBA1 variants
Likely benign 1
- p.Ile157Val Single submitter
Uncertain significance 5
- p.Arg211His Single submitter ⚠
- p.Asp165His Single submitter ⚠
- p.Gly8Arg Single submitter ⚠
- p.Leu196Arg Single submitter ⚠
- p.Ser258Cys Single submitter ⚠