EBF1 — 48 ClinVar variants
All ClinVar germline EBF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
48 Uncertain significance
Full EBF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EBF1 p.Ala423Ser Uncertain significance Single submitter
- EBF1 p.Ala423Val Uncertain significance Single submitter
- EBF1 p.Ala425Val Uncertain significance Single submitter
- EBF1 p.Ala431Thr Uncertain significance Single submitter
- EBF1 p.Ala510Gly Uncertain significance Single submitter
- EBF1 p.Ala516Thr Uncertain significance Single submitter
- EBF1 p.Ala582Glu Uncertain significance Single submitter
- EBF1 p.Arg163Cys Uncertain significance Single submitter
- EBF1 p.Arg209Trp Uncertain significance Single submitter
- EBF1 p.Asn455Ser Uncertain significance Single submitter
- EBF1 p.Asn507Ser Uncertain significance Single submitter
- EBF1 p.Asn578Ser Uncertain significance Single submitter
- EBF1 p.Gln456His Uncertain significance Single submitter
- EBF1 p.Gly501Ser Uncertain significance Single submitter
- EBF1 p.Ile131Val Uncertain significance Single submitter
- EBF1 p.Ile283Thr Uncertain significance Single submitter
- EBF1 p.Leu155Phe Uncertain significance Single submitter
- EBF1 p.Leu421Phe Uncertain significance Single submitter
- EBF1 p.Lys330Gln Uncertain significance Single submitter
- EBF1 p.Pro254Leu Uncertain significance Single submitter
- EBF1 p.Pro422Gln Uncertain significance Single submitter
- EBF1 p.Ser101Asn Uncertain significance Single submitter
- EBF1 p.Ser133Thr Uncertain significance Single submitter
- EBF1 p.Ser133Tyr Uncertain significance Single submitter
- EBF1 p.Ser451Pro Uncertain significance Single submitter
- EBF1 p.Ser483Cys Uncertain significance Single submitter
- EBF1 p.Ser538Leu Uncertain significance Single submitter
- EBF1 p.Ser60Cys Uncertain significance Single submitter
- EBF1 p.Thr218Ile Uncertain significance Single submitter
- EBF1 p.Thr253Met Uncertain significance Single submitter
- EBF1 p.Thr571Asn Uncertain significance Single submitter
- EBF1 p.Val436Met Uncertain significance Single submitter
- EBF1 p.Val465Ile Uncertain significance Single submitter
- EBF1 p.Val471Leu Uncertain significance Single submitter
- EBF1 p.Val549Ile Uncertain significance Single submitter
- EBF1 p.Val562Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- EBF1 p.Ala39Pro Uncertain significance Single submitter
- EBF1 p.Ala43Val Uncertain significance Single submitter
- EBF1 p.Arg245Gln Uncertain significance Single submitter
- EBF1 p.Arg416Leu Uncertain significance Single submitter
- EBF1 p.Gly223Asp Uncertain significance Single submitter
- EBF1 p.Gly23Cys Uncertain significance Single submitter
- EBF1 p.Pro589Leu Uncertain significance Single submitter
- EBF1 p.Ser536Arg Uncertain significance Single submitter
All EBF1 variants
Uncertain significance 48
- p.Ala39Pro Single submitter ⚠
- p.Ala423Ser Single submitter ⚠
- p.Ala423Val Single submitter ⚠
- p.Ala425Val Single submitter ⚠
- p.Ala431Thr Single submitter ⚠
- p.Ala43Val Single submitter ⚠
- p.Ala510Gly Single submitter ⚠
- p.Ala516Thr Single submitter ⚠
- p.Ala582Glu Single submitter ⚠
- p.Arg163Cys Single submitter ⚠
- p.Arg209Trp Single submitter ⚠
- p.Arg245Gln Single submitter ⚠
- p.Arg416Leu Single submitter ⚠
- p.Asn455Ser Single submitter ⚠
- p.Asn507Ser Single submitter ⚠
- p.Asn578Ser Single submitter ⚠
- p.Gln456His Single submitter ⚠
- p.Gly223Asp Single submitter ⚠
- p.Gly23Cys Single submitter ⚠
- p.Gly501Ser Single submitter ⚠
- p.Ile131Val Single submitter ⚠
- p.Ile283Thr Single submitter ⚠
- p.Leu155Phe Single submitter ⚠
- p.Leu421Phe Single submitter ⚠
- p.Lys330Gln Single submitter ⚠
- p.Pro254Leu Single submitter ⚠
- p.Pro422Gln Single submitter ⚠
- p.Pro422Leu Single submitter
- p.Pro589Leu Single submitter ⚠
- p.Ser101Asn Single submitter ⚠
- p.Ser133Thr Single submitter ⚠
- p.Ser133Tyr Single submitter ⚠
- p.Ser451Pro Single submitter ⚠
- p.Ser483Cys Single submitter ⚠
- p.Ser502Cys Single submitter
- p.Ser536Arg Single submitter ⚠
- p.Ser538Leu Single submitter ⚠
- p.Ser544Leu Single submitter
- p.Ser60Cys Single submitter ⚠
- p.Thr122Met Single submitter
- p.Thr218Ile Single submitter ⚠
- p.Thr253Met Single submitter ⚠
- p.Thr571Asn Single submitter ⚠
- p.Val436Met Single submitter ⚠
- p.Val465Ile Single submitter ⚠
- p.Val471Leu Single submitter ⚠
- p.Val549Ile Single submitter ⚠
- p.Val562Ile Single submitter ⚠