EDF1 — 12 ClinVar variants
All ClinVar germline EDF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
12 Uncertain significance
Full EDF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EDF1 p.Arg126Trp Uncertain significance Single submitter
- EDF1 p.Arg133Gln Uncertain significance Single submitter
- EDF1 p.Gln92Arg Uncertain significance Single submitter
- EDF1 p.Ile137Val Uncertain significance Single submitter
- EDF1 p.Thr8Met Uncertain significance Single submitter
- EDF1 p.Val73Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- EDF1 p.Ala147Val Uncertain significance Single submitter
- EDF1 p.Asp5Gly Uncertain significance Single submitter
- EDF1 p.Lys135Glu Uncertain significance Single submitter
- EDF1 p.Lys15Gln Uncertain significance Single submitter
- EDF1 p.Ser4Arg Uncertain significance Single submitter
- EDF1 p.Val120Leu Uncertain significance Single submitter
All EDF1 variants
Uncertain significance 12
- p.Ala147Val Single submitter ⚠
- p.Arg126Trp Single submitter ⚠
- p.Arg133Gln Single submitter ⚠
- p.Asp5Gly Single submitter ⚠
- p.Gln92Arg Single submitter ⚠
- p.Ile137Val Single submitter ⚠
- p.Lys135Glu Single submitter ⚠
- p.Lys15Gln Single submitter ⚠
- p.Ser4Arg Single submitter ⚠
- p.Thr8Met Single submitter ⚠
- p.Val120Leu Single submitter ⚠
- p.Val73Met Single submitter ⚠