Sugi Variant

Sugi Variant/PHYH

PHYH — 483 ClinVar variants

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

18 Pathogenic · 13 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 22 Conflicting · 27 Benign · 6 Benign/Likely benign · 183 Likely benign · 179 Uncertain significance

Full PHYH 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 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 114

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

Predictors split 41

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

All PHYH variants

Pathogenic 18

Pathogenic/Likely pathogenic 13

Likely pathogenic 35

Conflicting classifications of pathogenicity 22

Benign 27

Benign/Likely benign 6

Likely benign 183

Uncertain significance 179