EBF2 — 64 ClinVar variants
All ClinVar germline EBF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
2 Benign · 62 Uncertain significance
Full EBF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EBF2 p.Ala420Thr Uncertain significance Single submitter
- EBF2 p.Ala47Gly Uncertain significance Single submitter
- EBF2 p.Ala47Ser Uncertain significance Single submitter
- EBF2 p.Ala555Thr Uncertain significance Single submitter
- EBF2 p.Arg128Ser Uncertain significance Single submitter
- EBF2 p.Arg205Met Uncertain significance Single submitter
- EBF2 p.Arg308Gln Uncertain significance Single submitter
- EBF2 p.Arg332Ser Uncertain significance Single submitter
- EBF2 p.Asn477His Uncertain significance Single submitter
- EBF2 p.Asn500Ser Uncertain significance Single submitter
- EBF2 p.Asn562Ser Uncertain significance Single submitter
- EBF2 p.Asn60Asp Uncertain significance Single submitter
- EBF2 p.Asp247Asn Uncertain significance Single submitter
- EBF2 p.Gln98Leu Uncertain significance Single submitter
- EBF2 p.Glu362Gly Uncertain significance Single submitter
- EBF2 p.Gly491Asp Uncertain significance Single submitter
- EBF2 p.Ile130Leu Uncertain significance Single submitter
- EBF2 p.Leu14Val Uncertain significance Single submitter
- EBF2 p.Leu526Phe Uncertain significance Single submitter
- EBF2 p.Lys321Asn Uncertain significance Single submitter
- EBF2 p.Met479Thr Uncertain significance Single submitter
- EBF2 p.Met511Ile Uncertain significance Single submitter
- EBF2 p.Pro12Leu Uncertain significance Single submitter
- EBF2 p.Pro147Leu Uncertain significance Single submitter
- EBF2 p.Pro260Arg Uncertain significance Single submitter
- EBF2 p.Pro307Ala Uncertain significance Single submitter
- EBF2 p.Pro409Ser Uncertain significance Single submitter
- EBF2 p.Ser18Leu Uncertain significance Single submitter
- EBF2 p.Ser404Asn Uncertain significance Single submitter
- EBF2 p.Ser410Gly Uncertain significance Single submitter
- EBF2 p.Ser437Gly Uncertain significance Single submitter
- EBF2 p.Thr216Lys Uncertain significance Single submitter
- EBF2 p.Thr383Ala Uncertain significance Single submitter
- EBF2 p.Thr474Ile Uncertain significance Single submitter
- EBF2 p.Thr7Ile Uncertain significance Single submitter
- EBF2 p.Tyr345Cys Uncertain significance Single submitter
- EBF2 p.Val405Ile Uncertain significance Single submitter
- EBF2 p.Val492Ala Uncertain significance Single submitter
- EBF2 p.Val571Ile Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- EBF2 p.Ala87Thr Uncertain significance Single submitter
- EBF2 p.Arg459Trp Uncertain significance Single submitter
- EBF2 p.Asn219Ile Uncertain significance Single submitter
- EBF2 p.Asn39Asp Uncertain significance Single submitter
- EBF2 p.Asn428His Uncertain significance Single submitter
- EBF2 p.Asp37Asn Uncertain significance Single submitter
- EBF2 p.Asp37Glu Uncertain significance Single submitter
- EBF2 p.His223Tyr Uncertain significance Single submitter
- EBF2 p.Ile272Val Uncertain significance Single submitter
- EBF2 p.Leu19Arg Uncertain significance Single submitter
- EBF2 p.Leu73Val Uncertain significance Single submitter
- EBF2 p.Lys102Arg Uncertain significance Single submitter
- EBF2 p.Lys199Gln Uncertain significance Single submitter
- EBF2 p.Pro573Ser Uncertain significance Single submitter
- EBF2 p.Ser249Leu Uncertain significance Single submitter
- EBF2 p.Ser502Leu Uncertain significance Single submitter
- EBF2 p.Ser513Leu Uncertain significance Single submitter
- EBF2 p.Thr216Ala Uncertain significance Single submitter
- EBF2 p.Val127Ala Uncertain significance Single submitter
- EBF2 p.Val133Phe Uncertain significance Single submitter
- EBF2 p.Val158Met Uncertain significance Single submitter
- EBF2 p.Val313Met Uncertain significance Single submitter
- EBF2 p.Val405Phe Uncertain significance Single submitter
All EBF2 variants
Benign 2
- c.1164+4A>G Multiple submitters
- p.Lys352= Multiple submitters
Uncertain significance 62
- p.Ala420Thr Single submitter ⚠
- p.Ala47Gly Single submitter ⚠
- p.Ala47Ser Single submitter ⚠
- p.Ala555Thr Single submitter ⚠
- p.Ala87Thr Single submitter ⚠
- p.Arg128Ser Single submitter ⚠
- p.Arg205Met Single submitter ⚠
- p.Arg308Gln Single submitter ⚠
- p.Arg332Ser Single submitter ⚠
- p.Arg459Trp Single submitter ⚠
- p.Asn219Ile Single submitter ⚠
- p.Asn39Asp Single submitter ⚠
- p.Asn428His Single submitter ⚠
- p.Asn477His Single submitter ⚠
- p.Asn500Ser Single submitter ⚠
- p.Asn562Ser Single submitter ⚠
- p.Asn60Asp Single submitter ⚠
- p.Asp247Asn Single submitter ⚠
- p.Asp37Asn Single submitter ⚠
- p.Asp37Glu Single submitter ⚠
- p.Gln98Leu Single submitter ⚠
- p.Glu362Gly Single submitter ⚠
- p.Gly491Asp Single submitter ⚠
- p.His223Tyr Single submitter ⚠
- p.Ile130Leu Single submitter ⚠
- p.Ile272Val Single submitter ⚠
- p.Leu14Val Single submitter ⚠
- p.Leu19Arg Single submitter ⚠
- p.Leu526Phe Single submitter ⚠
- p.Leu73Val Single submitter ⚠
- p.Lys102Arg Single submitter ⚠
- p.Lys199Gln Single submitter ⚠
- p.Lys321Asn Single submitter ⚠
- p.Met479Thr Single submitter ⚠
- p.Met511Ile Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro260Arg Single submitter ⚠
- p.Pro307Ala Single submitter ⚠
- p.Pro409Ser Single submitter ⚠
- p.Pro573Ser Single submitter ⚠
- p.Ser18Leu Single submitter ⚠
- p.Ser249Leu Single submitter ⚠
- p.Ser404Asn Single submitter ⚠
- p.Ser410Gly Single submitter ⚠
- p.Ser437Gly Single submitter ⚠
- p.Ser502Leu Single submitter ⚠
- p.Ser513Leu Single submitter ⚠
- p.Thr216Ala Single submitter ⚠
- p.Thr216Lys Single submitter ⚠
- p.Thr383Ala Single submitter ⚠
- p.Thr474Ile Single submitter ⚠
- p.Thr7Ile Single submitter ⚠
- p.Tyr345Cys Single submitter ⚠
- p.Val127Ala Single submitter ⚠
- p.Val133Phe Single submitter ⚠
- p.Val158Met Single submitter ⚠
- p.Val313Met Single submitter ⚠
- p.Val405Ile Single submitter ⚠
- p.Val405Phe Single submitter ⚠
- p.Val492Ala Single submitter ⚠
- p.Val571Ile Single submitter ⚠