Sugi Variant

Sugi Variant/PPOX

PPOX — 315 ClinVar variants

All ClinVar germline PPOX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

40 Pathogenic · 8 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 18 Conflicting · 9 Benign · 3 Benign/Likely benign · 63 Likely benign · 155 Uncertain significance

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

⚑ Evidence disagreements 142

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 3

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

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 89

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

Predictors split 43

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

All PPOX variants

Pathogenic 40

Pathogenic/Likely pathogenic 8

Likely pathogenic 19

Conflicting classifications of pathogenicity 18

Benign 9

Benign/Likely benign 3

Likely benign 63

Uncertain significance 155