CDC27 — 14 ClinVar variants
All ClinVar germline CDC27 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
1 Pathogenic · 1 Benign/Likely benign · 10 Likely benign · 2 Uncertain significance
Full CDC27 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1
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.
-
CDC27 p.Thr2Ala
Uncertain significance
No assertion criteria
esophageal atresia
All CDC27 variants
Pathogenic 1
- p.Ala593Thr No assertion criteria Pulmonary artery atresia
Benign/Likely benign 1
- p.Pro286= Multiple submitters