EFCAB2 — 5 ClinVar variants
All ClinVar germline EFCAB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
5 Uncertain significance
Full EFCAB2 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 EFCAB2 variants
Uncertain significance 5
- p.Glu116Lys Single submitter ⚠
- p.Glu4Lys Single submitter
- p.Gly47Glu Single submitter ⚠
- p.Gly69Val Single submitter ⚠
- p.Leu77Phe Single submitter ⚠