Sugi Variant

Sugi Variant/CEP83

CEP83 — 540 ClinVar variants

All ClinVar germline CEP83 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →

36 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 13 Conflicting · 37 Benign · 1 Benign/Likely benign · 213 Likely benign · 230 Uncertain significance

Full CEP83 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 222

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 6

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

Predictors lean, ClinVar uncertain 124

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

Predictors split 92

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

All CEP83 variants

Pathogenic 36

Pathogenic/Likely pathogenic 2

Likely pathogenic 8

Conflicting classifications of pathogenicity 13

Benign 37

Benign/Likely benign 1

  • p.Asn136= Multiple submitters nephronophthisis 18

Likely benign 213

Uncertain significance 230