ETS1 — 39 ClinVar variants
All ClinVar germline ETS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 5 Benign · 3 Likely benign · 29 Uncertain significance
Full ETS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ETS1 p.Ala337Ser Uncertain significance Single submitter
- ETS1 p.Ala338Val Uncertain significance Single submitter
- ETS1 p.Ala475Thr Uncertain significance Single submitter
- ETS1 p.Arg114Gln Uncertain significance Single submitter
- ETS1 p.Arg114Trp Uncertain significance Single submitter
- ETS1 p.Arg197Cys Uncertain significance Single submitter
- ETS1 p.Arg287Cys Uncertain significance Single submitter
- ETS1 p.Arg287Leu Uncertain significance Single submitter
- ETS1 p.Arg307His Uncertain significance Single submitter
- ETS1 p.Arg435His Uncertain significance Single submitter
- ETS1 p.Asn359Ser Uncertain significance Single submitter
- ETS1 p.Glu159Lys Uncertain significance Single submitter
- ETS1 p.Gly99Val Uncertain significance Single submitter
- ETS1 p.Ile270Val Uncertain significance Single submitter
- ETS1 p.Leu107Met Uncertain significance Single submitter
- ETS1 p.Leu465Pro Uncertain significance Single submitter
- ETS1 p.Met144Ile Uncertain significance Single submitter
- ETS1 p.Pro183Leu Uncertain significance Single submitter
- ETS1 p.Pro194Ser Uncertain significance Single submitter
- ETS1 p.Pro222Leu Uncertain significance Single submitter
- ETS1 p.Ser217Leu Uncertain significance Single submitter
- ETS1 p.Ser251Leu Uncertain significance Single submitter
- ETS1 p.Thr262Asn Uncertain significance Single submitter
- ETS1 p.Tyr206Cys Uncertain significance Single submitter
- ETS1 p.Tyr335Cys Uncertain significance Single submitter
- ETS1 p.Val275Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All ETS1 variants
Pathogenic 1
- p.Lys349fs No assertion criteria Jacobsen syndrome
Likely pathogenic 1
- p.Arg35Ter Single submitter ETS1-related disorder
Benign 5
- c.*1736A>G Multiple submitters
- p.Arg307= Multiple submitters
- p.Pro12= Multiple submitters
- p.Ser200= Multiple submitters
- p.Arg35= Single submitter
Likely benign 3
- p.Ala151Thr Multiple submitters
- p.Asp478= Single submitter
- p.Leu240= Single submitter
Uncertain significance 29
- p.Ala337Ser Single submitter ⚠
- p.Ala338Val Single submitter ⚠
- p.Ala475Thr Single submitter ⚠
- p.Arg114Gln Single submitter ⚠
- p.Arg114Trp Single submitter ⚠
- p.Arg197Cys Single submitter ⚠
- p.Arg287Cys Single submitter ⚠
- p.Arg287Leu Single submitter ⚠
- p.Arg307His Single submitter ⚠
- p.Arg435His Single submitter ⚠
- p.Asn359Ser Single submitter ⚠
- p.Gln25fs Single submitter ETS1-related disorder
- p.Glu159Lys Single submitter ⚠
- p.Gly291Arg Single submitter ⚠
- p.Gly99Val Single submitter ⚠
- p.Ile270Val Single submitter ⚠
- p.Leu107Met Single submitter ⚠
- p.Leu465Pro Single submitter ⚠
- p.Leu80Gln Single submitter ⚠
- p.Met144Ile Single submitter ⚠
- p.Pro183Leu Single submitter ⚠
- p.Pro194Ser Single submitter ⚠
- p.Pro222Leu Single submitter ⚠
- p.Ser217Leu Single submitter ⚠
- p.Ser251Leu Single submitter ⚠
- p.Thr262Asn Single submitter ⚠
- p.Tyr206Cys Single submitter ⚠
- p.Tyr335Cys Single submitter ⚠
- p.Val275Ile Single submitter ⚠