ERLN — 4 ClinVar variants
All ClinVar germline ERLN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
4 Uncertain significance
Full ERLN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All ERLN variants
Uncertain significance 4
- p.Ala34Val Single submitter ⚠
- p.Ala58Thr Single submitter ⚠
- p.Ile10Thr Single submitter ⚠
- p.Thr9Ile Single submitter ⚠