Sugi Variant

Sugi Variant/CEP250

CEP250 — 1652 ClinVar variants

All ClinVar germline CEP250 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 825 flagged for review →

81 Pathogenic · 5 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 20 Conflicting · 65 Benign · 5 Benign/Likely benign · 626 Likely benign · 834 Uncertain significance

Full CEP250 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 825

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 12

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

Predictors lean, ClinVar uncertain 424

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 424

Predictors split 389

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 389

All CEP250 variants

Pathogenic 81

Pathogenic/Likely pathogenic 5

  • p.Arg1155Ter Multiple submitters cone-rod dystrophy and hearing loss 2
  • p.Arg1336Ter Multiple submitters cone-rod dystrophy and hearing loss 2
  • p.Gln1031Ter Multiple submitters CEP250-related disorder
  • p.Glu883fs Multiple submitters
  • p.Met885fs Multiple submitters cone-rod dystrophy and hearing loss 2

Likely pathogenic 16

Conflicting classifications of pathogenicity 20

Benign 65

Benign/Likely benign 5

Likely benign 626

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

Uncertain significance 834

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