Sugi Variant

Sugi Variant/CEP63

CEP63 — 334 ClinVar variants

All ClinVar germline CEP63 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →

20 Pathogenic · 15 Likely pathogenic · 6 Conflicting · 45 Benign · 1 Benign/Likely benign · 88 Likely benign · 159 Uncertain significance

Full CEP63 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 153

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 agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 88

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

Predictors split 62

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

All CEP63 variants

Pathogenic 20

Likely pathogenic 15

Conflicting classifications of pathogenicity 6

Benign 45

Benign/Likely benign 1

Likely benign 88

Uncertain significance 159