CEP295 — 431 ClinVar variants

All ClinVar germline CEP295 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 380 flagged for review →

4 Pathogenic · 2 Likely pathogenic · 20 Benign · 31 Likely benign · 374 Uncertain significance

Full CEP295 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 380

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 230

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 230

Predictors split 149

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

All CEP295 variants

Pathogenic 4

Likely pathogenic 2

Benign 20

Likely benign 31

Uncertain significance 374

Showing the top 300 by review status; the full set is in the sitemap.