EME2 — 8 ClinVar variants
All ClinVar germline EME2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
5 Benign · 3 Likely benign
Full EME2 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 split 2
The independent predictors disagree with each other — read with care.
All EME2 variants
Benign 5
- p.Cys79Phe Multiple submitters ⚠
- p.Gln322Ter Multiple submitters
- p.Gln71Arg Multiple submitters
- p.Gly209Asp Multiple submitters ⚠
- p.Ser317= Multiple submitters