Sugi Variant

Sugi Variant/EPB41

EPB41 — 272 ClinVar variants

All ClinVar germline EPB41 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 155 flagged for review →

16 Pathogenic · 6 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 11 Conflicting · 18 Benign · 5 Benign/Likely benign · 40 Likely benign · 159 Uncertain significance

Full EPB41 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 155

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 5

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

Predictors lean, ClinVar uncertain 73

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

Predictors split 76

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

All EPB41 variants

Pathogenic 16

Pathogenic/Likely pathogenic 6

Likely pathogenic 17

Conflicting classifications of pathogenicity 11

Benign 18

Benign/Likely benign 5

Likely benign 40

Uncertain significance 159