U2AF1 — 9 ClinVar variants
All ClinVar germline U2AF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
1 Likely pathogenic · 1 Benign · 7 Uncertain significance
Full U2AF1 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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 1
The independent predictors disagree with each other — read with care.
All U2AF1 variants
Likely pathogenic 1
- p.Gln157Pro Single submitter
Benign 1
- p.Cys33= No assertion criteria U2AF1-related disorder
Uncertain significance 7
- p.Arg190Cys Single submitter ⚠
- p.Arg205Gln Single submitter
- p.Arg35fs Single submitter
- p.Glu201Asp Single submitter ⚠
- p.Gly213Ser Single submitter ⚠
- p.Gly215Ser Single submitter
- p.Ser195Ala Single submitter ⚠