Sugi Variant

Sugi Variant/CEP41

CEP41 — 456 ClinVar variants

All ClinVar germline CEP41 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

15 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 15 Conflicting · 28 Benign · 6 Benign/Likely benign · 136 Likely benign · 248 Uncertain significance

Full CEP41 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

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 98

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

Predictors split 53

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

All CEP41 variants

Pathogenic 15

Pathogenic/Likely pathogenic 2

  • c.34-2A>G Multiple submitters Joubert syndrome 15
  • p.Arg286Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 6

Conflicting classifications of pathogenicity 15

Benign 28

Benign/Likely benign 6

Likely benign 136

Uncertain significance 248