Sugi Variant

Sugi Variant/EMP2

EMP2 — 111 ClinVar variants

All ClinVar germline EMP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 23 Benign · 2 Benign/Likely benign · 39 Likely benign · 43 Uncertain significance

Full EMP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 42

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 29

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

Predictors split 12

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

All EMP2 variants

Pathogenic 1

  • p.Phe7Leu No assertion criteria nephrotic syndrome, type 10 ⚠

Likely pathogenic 2

Conflicting classifications of pathogenicity 1

Benign 23

Benign/Likely benign 2

Likely benign 39

Uncertain significance 43