ECRG4 — 3 ClinVar variants
All ClinVar germline ECRG4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
1 Benign · 2 Uncertain significance
Full ECRG4 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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All ECRG4 variants
Benign 1
- p.Ala52Thr Multiple submitters
Uncertain significance 2
- p.Asp124Val Single submitter ⚠
- p.Thr47Ser Single submitter ⚠