Sugi Variant

Sugi Variant/EPG5

EPG5 — 2553 ClinVar variants

All ClinVar germline EPG5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 950 flagged for review →

143 Pathogenic · 17 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 38 Conflicting · 146 Benign · 18 Benign/Likely benign · 1170 Likely benign · 970 Uncertain significance

Full EPG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 950

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 22

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

Predictors lean, ClinVar uncertain 623

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 623

Predictors split 302

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 302

All EPG5 variants

Pathogenic 143

Pathogenic/Likely pathogenic 17

Likely pathogenic 51

Conflicting classifications of pathogenicity 38

Benign 146

Benign/Likely benign 18

Likely benign 1170

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

Uncertain significance 970

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