ETV1 — 68 ClinVar variants
All ClinVar germline ETV1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
1 Benign/Likely benign · 67 Uncertain significance
Full ETV1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ETV1 p.Ala123Thr Uncertain significance Single submitter
- ETV1 p.Ala167Gly Uncertain significance Single submitter
- ETV1 p.Ala245Val Uncertain significance Single submitter
- ETV1 p.Ala40Gly Uncertain significance Single submitter
- ETV1 p.Ala458Thr Uncertain significance Single submitter
- ETV1 p.Arg187His Uncertain significance Single submitter
- ETV1 p.Arg208Cys Uncertain significance Single submitter
- ETV1 p.Arg278Lys Uncertain significance Single submitter
- ETV1 p.Arg324Gln Uncertain significance Single submitter
- ETV1 p.Arg331Gln Uncertain significance Single submitter
- ETV1 p.Arg374His Uncertain significance Single submitter
- ETV1 p.Arg440His Uncertain significance Single submitter
- ETV1 p.Asn239Asp Uncertain significance Single submitter
- ETV1 p.Asn429His Uncertain significance Single submitter
- ETV1 p.Asp125Val Uncertain significance Single submitter
- ETV1 p.Asp38Asn Uncertain significance Single submitter
- ETV1 p.Asp38Gly Uncertain significance Single submitter
- ETV1 p.Asp428Glu Uncertain significance Single submitter
- ETV1 p.Asp65Glu Uncertain significance Single submitter
- ETV1 p.Gln107Glu Uncertain significance Single submitter
- ETV1 p.Gln229Glu Uncertain significance Single submitter
- ETV1 p.Gln279Glu Uncertain significance Single submitter
- ETV1 p.Gln62Glu Uncertain significance Single submitter
- ETV1 p.Glu192Asp Uncertain significance Single submitter
- ETV1 p.Glu206Lys Uncertain significance Single submitter
- ETV1 p.Glu455Asp Uncertain significance Single submitter
- ETV1 p.Gly463Glu Uncertain significance Single submitter
- ETV1 p.His469Asp Uncertain significance Single submitter
- ETV1 p.His469Tyr Uncertain significance Single submitter
- ETV1 p.Lys116Asn Uncertain significance Single submitter
- ETV1 p.Met241Val Uncertain significance Single submitter
- ETV1 p.Met293Val Uncertain significance Single submitter
- ETV1 p.Met322Val Uncertain significance Single submitter
- ETV1 p.Met361Thr Uncertain significance Single submitter
- ETV1 p.Pro134Thr Uncertain significance Single submitter
- ETV1 p.Pro137Thr Uncertain significance Single submitter
- ETV1 p.Pro138Leu Uncertain significance Single submitter
- ETV1 p.Pro159Leu Uncertain significance Single submitter
- ETV1 p.Pro170Ser Uncertain significance Single submitter
- ETV1 p.Pro176Arg Uncertain significance Single submitter
- ETV1 p.Pro201Leu Uncertain significance Single submitter
- ETV1 p.Pro221Ser Uncertain significance Single submitter
- ETV1 p.Pro252Arg Uncertain significance Single submitter
- ETV1 p.Pro253Leu Uncertain significance Single submitter
- ETV1 p.Pro461Leu Uncertain significance Single submitter
- ETV1 p.Pro461Ser Uncertain significance Single submitter
- ETV1 p.Ser100Arg Uncertain significance Single submitter
- ETV1 p.Ser247Arg Uncertain significance Single submitter
- ETV1 p.Ser287Arg Uncertain significance Single submitter
- ETV1 p.Thr143Met Uncertain significance Single submitter
- ETV1 p.Thr158Ile Uncertain significance Single submitter
- ETV1 p.Tyr211Ser Uncertain significance Single submitter
- ETV1 p.Tyr231Cys Uncertain significance Single submitter
- ETV1 p.Tyr236Cys Uncertain significance Single submitter
- ETV1 p.Tyr412Cys Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ETV1 p.Arg331Trp Uncertain significance Single submitter
- ETV1 p.Arg431His Uncertain significance Single submitter
- ETV1 p.Asp67Glu Uncertain significance Single submitter
- ETV1 p.Met402Ile Uncertain significance Single submitter
- ETV1 p.Pro348Ser Uncertain significance Single submitter
- ETV1 p.Val71Leu Uncertain significance Single submitter
All ETV1 variants
Benign/Likely benign 1
- c.365+8C>T Multiple submitters
Uncertain significance 67
- p.Ala123Thr Single submitter ⚠
- p.Ala167Gly Single submitter ⚠
- p.Ala245Val Single submitter ⚠
- p.Ala40Gly Single submitter ⚠
- p.Ala458Thr Single submitter ⚠
- p.Arg187His Single submitter ⚠
- p.Arg208Cys Single submitter ⚠
- p.Arg278Lys Single submitter ⚠
- p.Arg324Gln Single submitter ⚠
- p.Arg331Gln Single submitter ⚠
- p.Arg331Trp Single submitter ⚠
- p.Arg374His Single submitter ⚠
- p.Arg431His Single submitter ⚠
- p.Arg440His Single submitter ⚠
- p.Asn239Asp Single submitter ⚠
- p.Asn429His Single submitter ⚠
- p.Asp125Val Single submitter ⚠
- p.Asp38Asn Single submitter ⚠
- p.Asp38Gly Single submitter ⚠
- p.Asp428Glu Single submitter ⚠
- p.Asp454Asn Single submitter
- p.Asp65Glu Single submitter ⚠
- p.Asp67Glu Single submitter ⚠
- p.Cys306Gly Single submitter
- p.Gln105Ter Single submitter
- p.Gln107Glu Single submitter ⚠
- p.Gln229Glu Single submitter ⚠
- p.Gln279Glu Single submitter ⚠
- p.Gln62Glu Single submitter ⚠
- p.Glu192Asp Single submitter ⚠
- p.Glu206Lys Single submitter ⚠
- p.Glu237Lys Single submitter
- p.Glu455Asp Single submitter ⚠
- p.Gly463Glu Single submitter ⚠
- p.His469Asp Single submitter ⚠
- p.His469Tyr Single submitter ⚠
- p.Lys116Asn Single submitter ⚠
- p.Met241Val Single submitter ⚠
- p.Met293Val Single submitter ⚠
- p.Met322Val Single submitter ⚠
- p.Met361Thr Single submitter ⚠
- p.Met402Ile Single submitter ⚠
- p.Pro134Thr Single submitter ⚠
- p.Pro137Thr Single submitter ⚠
- p.Pro138Leu Single submitter ⚠
- p.Pro159Leu Single submitter ⚠
- p.Pro170Ser Single submitter ⚠
- p.Pro176Arg Single submitter ⚠
- p.Pro201Leu Single submitter ⚠
- p.Pro221Ser Single submitter ⚠
- p.Pro252Arg Single submitter ⚠
- p.Pro253Leu Single submitter ⚠
- p.Pro348Ser Single submitter ⚠
- p.Pro461Leu Single submitter ⚠
- p.Pro461Ser Single submitter ⚠
- p.Ser100Arg Single submitter ⚠
- p.Ser247Arg Single submitter ⚠
- p.Ser287Arg Single submitter ⚠
- p.Thr143Met Single submitter ⚠
- p.Thr158Ile Single submitter ⚠
- p.Tyr211Cys Single submitter
- p.Tyr211Ser Single submitter ⚠
- p.Tyr231Cys Single submitter ⚠
- p.Tyr236Cys Single submitter ⚠
- p.Tyr412Cys Single submitter ⚠
- p.Tyr477Cys Single submitter
- p.Val71Leu Single submitter ⚠