Sugi Variant

Sugi Variant/CPOX

CPOX — 330 ClinVar variants

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

27 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 15 Conflicting · 41 Benign · 7 Benign/Likely benign · 53 Likely benign · 174 Uncertain significance

Full CPOX 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 vs ClinVar 1

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

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 79

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

Predictors split 68

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

All CPOX variants

Pathogenic 27

Pathogenic/Likely pathogenic 3

  • p.Glu201Lys Multiple submitters hereditary coproporphyria
  • p.Lys314fs Multiple submitters
  • p.Lys404Glu Multiple submitters CPOX-related hereditary coproporphyria

Likely pathogenic 10

Conflicting classifications of pathogenicity 15

Benign 41

Benign/Likely benign 7

  • c.556+9G>A Multiple submitters hereditary coproporphyria
  • c.954-15C>T Multiple submitters hereditary coproporphyria
  • p.Glu217= Multiple submitters hereditary coproporphyria
  • p.Glu217Asp Multiple submitters
  • p.Gly204= Multiple submitters hereditary coproporphyria
  • p.Leu383= Multiple submitters hereditary coproporphyria
  • p.Val74= Multiple submitters

Likely benign 53

Uncertain significance 174