Sugi Variant

Sugi Variant/ESR2

ESR2 — 191 ClinVar variants

All ClinVar germline ESR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →

1 Pathogenic · 4 Conflicting · 34 Benign · 3 Benign/Likely benign · 49 Likely benign · 100 Uncertain significance

Full ESR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 95

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 2

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

Predictors lean, ClinVar uncertain 70

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

Predictors split 22

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

All ESR2 variants

Pathogenic 1

Conflicting classifications of pathogenicity 4

Benign 34

Benign/Likely benign 3

Likely benign 49

Uncertain significance 100