Sugi Variant

Sugi Variant/CAPN10

CAPN10 — 171 ClinVar variants

All ClinVar germline CAPN10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 14 Benign · 30 Likely benign · 123 Uncertain significance

Full CAPN10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 127

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 71

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

Predictors split 56

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

All CAPN10 variants

Pathogenic 3

Likely pathogenic 1

  • p.Trp302Ter Single submitter diabetes mellitus, noninsulin-dependent, 1

Benign 14

Likely benign 30

Uncertain significance 123