ERFL — 7 ClinVar variants
All ClinVar germline ERFL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
1 Benign · 6 Likely benign
Full ERFL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1
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 split 1
The independent predictors disagree with each other — read with care.
All ERFL variants
Benign 1
- p.Arg289His Single submitter ⚠
Likely benign 6
- p.Arg222His Single submitter
- p.Ser265Leu Single submitter
- p.Thr167= Single submitter
- p.Thr236= Single submitter
- p.Thr352= Single submitter
- p.Tyr93= Single submitter