Sugi Variant

Sugi Variant/PHF20

PHF20 — 117 ClinVar variants

All ClinVar germline PHF20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →

2 Likely pathogenic · 8 Benign · 1 Benign/Likely benign · 2 Likely benign · 104 Uncertain significance

Full PHF20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 103

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 2

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

Predictors lean, ClinVar uncertain 85

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

Predictors split 16

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

All PHF20 variants

Likely pathogenic 2

Benign 8

Benign/Likely benign 1

Likely benign 2

Uncertain significance 104