Sugi Variant

Sugi Variant/CEP78

CEP78 — 625 ClinVar variants

All ClinVar germline CEP78 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 290 flagged for review →

47 Pathogenic · 9 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 8 Conflicting · 43 Benign · 6 Benign/Likely benign · 173 Likely benign · 325 Uncertain significance

Full CEP78 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 290

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 agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 200

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 200

Predictors split 86

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

All CEP78 variants

Pathogenic 47

Pathogenic/Likely pathogenic 9

  • c.1205+2T>A Multiple submitters cone-rod dystrophy and hearing loss 1
  • c.254-1G>T Multiple submitters inherited retinal dystrophy
  • p.Arg483Ter Multiple submitters cone-rod dystrophy and hearing loss
  • p.Gln26Ter Multiple submitters inherited retinal dystrophy
  • p.Leu150Ser Multiple submitters inherited retinal dystrophy
  • p.Ser485fs Multiple submitters cone-rod dystrophy and hearing loss 1
  • p.Ser567fs Multiple submitters cone-rod dystrophy and hearing loss 1
  • p.Trp322Ter Multiple submitters
  • p.Val475fs Multiple submitters cone-rod dystrophy and hearing loss 1

Likely pathogenic 14

Conflicting classifications of pathogenicity 8

Benign 43

Benign/Likely benign 6

Likely benign 173

Uncertain significance 325

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