CCDC32 — 11 ClinVar variants
All ClinVar germline CCDC32 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
2 Pathogenic · 5 Likely benign · 4 Uncertain significance
Full CCDC32 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 1
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 CCDC32 variants
Pathogenic 2
Likely benign 5
- c.402-6939A>C Single submitter
- c.-13+210T>C Single submitter
- p.Asp172= Single submitter
- p.Ser6= Single submitter
- p.Val76= Single submitter
Uncertain significance 4
- c.-13+196A>T Single submitter
- p.Asp45His Single submitter ⚠
- p.Gly177Arg Single submitter ⚠
- p.Tyr157Ter Single submitter cardiofacioneurodevelopmental syndrome