Sugi Variant

Sugi Variant/P4HB

P4HB — 406 ClinVar variants

All ClinVar germline P4HB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 10 Conflicting · 44 Benign · 14 Benign/Likely benign · 159 Likely benign · 176 Uncertain significance

Full P4HB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 165

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 105

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

Predictors split 54

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

All P4HB variants

Pathogenic 1

  • p.Tyr393Cys Single submitter Cole-Carpenter syndrome 1

Likely pathogenic 2

  • p.Cys400Arg Multiple submitters P4HB-related disorders
  • p.Leu79fs Single submitter Cole-Carpenter syndrome 1

Conflicting classifications of pathogenicity 10

Benign 44

Benign/Likely benign 14

Likely benign 159

Uncertain significance 176