EOLA2 — 5 ClinVar variants
All ClinVar germline EOLA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
1 Conflicting · 3 Likely benign · 1 Uncertain significance
Full EOLA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 lean, ClinVar uncertain 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 1
The independent predictors disagree with each other — read with care.
All EOLA2 variants
Conflicting classifications of pathogenicity 1
- p.Arg28Cys Single submitter ⚠