Sugi Variant

Sugi Variant/CEP290

CEP290 — 4243 ClinVar variants

All ClinVar germline CEP290 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1378 flagged for review →

404 Pathogenic · 193 Pathogenic/Likely pathogenic · 303 Likely pathogenic · 149 Conflicting · 108 Benign · 24 Benign/Likely benign · 1576 Likely benign · 1486 Uncertain significance

Full CEP290 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1378

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 7

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

Predictors agree, ClinVar conflicts 39

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

Predictors lean, ClinVar uncertain 848

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 848

Predictors split 484

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 484

All CEP290 variants

Pathogenic 404

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

Pathogenic/Likely pathogenic 193

Likely pathogenic 303

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

Conflicting classifications of pathogenicity 149

Benign 108

Benign/Likely benign 24

Likely benign 1576

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

Uncertain significance 1486

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