Sugi Variant

Sugi Variant/EZH2

EZH2 — 702 ClinVar variants

All ClinVar germline EZH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →

9 Pathogenic · 4 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 17 Conflicting · 48 Benign · 27 Benign/Likely benign · 313 Likely benign · 255 Uncertain significance

Full EZH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 200

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 145

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

Predictors split 45

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

All EZH2 variants

Pathogenic 9

Pathogenic/Likely pathogenic 4

Likely pathogenic 29

Conflicting classifications of pathogenicity 17

Benign 48

Benign/Likely benign 27

Likely benign 313

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 255