CALB1 — 18 ClinVar variants

All ClinVar germline CALB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →

1 Benign · 1 Likely benign · 16 Uncertain significance

Full CALB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 16

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 9

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 7

The independent predictors disagree with each other — read with care.

All CALB1 variants

Benign 1

p.Asp201= Multiple submitters

Likely benign 1

p.Gly116= Single submitter

Uncertain significance 16

p.Ala13Pro Single submitter ⚠
p.Ala46Glu Single submitter ⚠
p.Asn125Lys Single submitter ⚠
p.Asn38Ser Single submitter ⚠
p.Asp24Asn Single submitter ⚠
p.Asp24His Single submitter ⚠
p.Cys257Arg Single submitter ⚠
p.Glu86Asp Single submitter ⚠
p.His80Tyr Single submitter ⚠
p.Ile228Met Single submitter ⚠
p.Lys223Glu Single submitter ⚠
p.Met150Thr Single submitter ⚠
p.Met186Thr Single submitter ⚠
p.Thr250Met Single submitter ⚠
p.Tyr110His Single submitter ⚠
p.Val76Ala Single submitter ⚠