ETV4 — 113 ClinVar variants
All ClinVar germline ETV4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →
1 Likely pathogenic · 25 Benign · 7 Likely benign · 80 Uncertain significance
Full ETV4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 77
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ETV4 p.Ala142Asp Uncertain significance Single submitter
- ETV4 p.Ala207Thr Uncertain significance Single submitter
- ETV4 p.Ala267Thr Uncertain significance Single submitter
- ETV4 p.Ala31Ser Uncertain significance Single submitter
- ETV4 p.Ala470Val Uncertain significance Single submitter
- ETV4 p.Ala66Val Uncertain significance Single submitter
- ETV4 p.Arg103His Uncertain significance Single submitter
- ETV4 p.Arg156Gln Uncertain significance Single submitter
- ETV4 p.Arg202Gln Uncertain significance Single submitter
- ETV4 p.Arg202Trp Uncertain significance Single submitter
- ETV4 p.Arg337His Uncertain significance Single submitter
- ETV4 p.Arg3Gln Uncertain significance Single submitter
- ETV4 p.Arg446Trp Uncertain significance Single submitter
- ETV4 p.Asp131Glu Uncertain significance Single submitter
- ETV4 p.Asp269Asn Uncertain significance Single submitter
- ETV4 p.Asp41Tyr Uncertain significance Single submitter
- ETV4 p.Gln123Arg Uncertain significance Single submitter
- ETV4 p.Gln135His Uncertain significance Single submitter
- ETV4 p.Gln148Glu Uncertain significance Single submitter
- ETV4 p.Gln186Arg Uncertain significance Single submitter
- ETV4 p.Gln239Arg Uncertain significance Single submitter
- ETV4 p.Glu30Val Uncertain significance Single submitter
- ETV4 p.Glu376Lys Uncertain significance Single submitter
- ETV4 p.Gly179Arg Uncertain significance Single submitter
- ETV4 p.Gly199Glu Uncertain significance Single submitter
- ETV4 p.Gly201Ala Uncertain significance Single submitter
- ETV4 p.Gly249Arg Uncertain significance Single submitter
- ETV4 p.Gly274Arg Uncertain significance Single submitter
- ETV4 p.Gly291Ser Uncertain significance Single submitter
- ETV4 p.Gly293Trp Uncertain significance Single submitter
- ETV4 p.Gly339Ser Uncertain significance Single submitter
- ETV4 p.Gly382Ser Uncertain significance Single submitter
- ETV4 p.His172Asp Uncertain significance Single submitter
- ETV4 p.Ile191Met Uncertain significance Single submitter
- ETV4 p.Ile360Val Uncertain significance Single submitter
- ETV4 p.Ile95Met Uncertain significance Single submitter
- ETV4 p.Leu116Phe Uncertain significance Single submitter
- ETV4 p.Leu280Phe Uncertain significance Single submitter
- ETV4 p.Leu28Phe Uncertain significance Single submitter
- ETV4 p.Leu45Pro Uncertain significance Single submitter
- ETV4 p.Met295Ile Uncertain significance Single submitter
- ETV4 p.Met408Val Uncertain significance Single submitter
- ETV4 p.Phe162Leu Uncertain significance Single submitter
- ETV4 p.Phe317Leu Uncertain significance Single submitter
- ETV4 p.Phe476Ser Uncertain significance Single submitter
- ETV4 p.Pro114Leu Uncertain significance Single submitter
- ETV4 p.Pro133Ser Uncertain significance Single submitter
- ETV4 p.Pro232Thr Uncertain significance Single submitter
- ETV4 p.Pro307Gln Uncertain significance Single submitter
- ETV4 p.Pro35Leu Uncertain significance Single submitter
- ETV4 p.Pro424Ser Uncertain significance Single submitter
- ETV4 p.Pro463Arg Uncertain significance Single submitter
- ETV4 p.Ser127Pro Uncertain significance Single submitter
- ETV4 p.Ser483Phe Uncertain significance Single submitter
- ETV4 p.Ser73Gly Uncertain significance Single submitter
- ETV4 p.Thr168Ile Uncertain significance Single submitter
- ETV4 p.Thr17Ile Uncertain significance Single submitter
- ETV4 p.Thr17Ser Uncertain significance Single submitter
- ETV4 p.Thr264Met Uncertain significance Single submitter
- ETV4 p.Thr363Met Uncertain significance Single submitter
- ETV4 p.Tyr126Phe Uncertain significance Single submitter
- ETV4 p.Tyr16His Uncertain significance Single submitter
- ETV4 p.Tyr16Phe Uncertain significance Single submitter
- ETV4 p.Tyr252Cys Uncertain significance Single submitter
- ETV4 p.Tyr279Asn Uncertain significance Single submitter
- ETV4 p.Tyr299Cys Uncertain significance Single submitter
- ETV4 p.Tyr401Phe Uncertain significance Single submitter
- ETV4 p.Tyr465His Uncertain significance Single submitter
- ETV4 p.Val312Ile Uncertain significance Single submitter
- ETV4 p.Val312Leu Uncertain significance Single submitter
- ETV4 p.Val421Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ETV4 p.Arg437Cys Benign Single submitter
- ETV4 p.Glu451Lys Uncertain significance Single submitter
- ETV4 p.Glu75Lys Uncertain significance Single submitter
- ETV4 p.Gly327Asp Uncertain significance Single submitter
- ETV4 p.Pro333Leu Uncertain significance Single submitter
- ETV4 p.Ser50Phe Uncertain significance Single submitter
All ETV4 variants
Likely pathogenic 1
- p.Arg415His No assertion criteria congenital anomaly of kidney and urinary tract
Benign 25
- c.1129-107C>T Multiple submitters
- c.155-117T>C Multiple submitters
- c.155-8C>T Multiple submitters
- c.256+103C>A Multiple submitters
- c.546-91G>A Multiple submitters
- c.61-5C>A Multiple submitters
- c.-51-176C>T Multiple submitters
- p.Phe195Ile Multiple submitters
- p.Thr93Ser Multiple submitters
- c.1231-137A>G Single submitter
- c.154+40AC[19] Single submitter
- c.154+40AC[21] Single submitter
- c.154+40AC[22] Single submitter
- c.154+40AC[23] Single submitter
- c.154+40AC[24] Single submitter
- c.256+285GTTT[5] Single submitter
- c.812-428G>A Single submitter
- c.812-429CG[3] Single submitter
- c.812-454A>T Single submitter
- c.812-454AC[9] Single submitter
- c.-52+205AC[21] Single submitter
- c.-52+205AC[22] Single submitter
- c.-52+205AC[24] Single submitter
- c.-52+205AC[25] Single submitter
- p.Arg437Cys Single submitter ⚠
Likely benign 7
- p.Pro115Ser Multiple submitters
- p.Pro433Leu Single submitter
- p.Ser183= Single submitter
- p.Val326= Single submitter
- c.154+9C>A No assertion criteria ETV4-related disorder
- p.His175Asn No assertion criteria ETV4-related disorder
- p.Lys6Ter No assertion criteria ETV4-related disorder
Uncertain significance 80
- p.Ala142Asp Single submitter ⚠
- p.Ala207Thr Single submitter ⚠
- p.Ala267Thr Single submitter ⚠
- p.Ala31Ser Single submitter ⚠
- p.Ala470Val Single submitter ⚠
- p.Ala66Val Single submitter ⚠
- p.Arg103His Single submitter ⚠
- p.Arg156Gln Single submitter ⚠
- p.Arg202Gln Single submitter ⚠
- p.Arg202Trp Single submitter ⚠
- p.Arg337His Single submitter ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg446Trp Single submitter ⚠
- p.Asp131Glu Single submitter ⚠
- p.Asp269Asn Single submitter ⚠
- p.Asp41Tyr Single submitter ⚠
- p.Gln123Arg Single submitter ⚠
- p.Gln135His Single submitter ⚠
- p.Gln148Glu Single submitter ⚠
- p.Gln186Arg Single submitter ⚠
- p.Gln239Arg Single submitter ⚠
- p.Glu30Val Single submitter ⚠
- p.Glu376Lys Single submitter ⚠
- p.Glu451Lys Single submitter ⚠
- p.Glu75Lys Single submitter ⚠
- p.Gly179Arg Single submitter ⚠
- p.Gly199Glu Single submitter ⚠
- p.Gly201Ala Single submitter ⚠
- p.Gly249Arg Single submitter ⚠
- p.Gly274Arg Single submitter ⚠
- p.Gly291Ser Single submitter ⚠
- p.Gly293Trp Single submitter ⚠
- p.Gly327Asp Single submitter ⚠
- p.Gly339Ser Single submitter ⚠
- p.Gly382Ser Single submitter ⚠
- p.His172Asp Single submitter ⚠
- p.Ile191Met Single submitter ⚠
- p.Ile360Val Single submitter ⚠
- p.Ile95Met Single submitter ⚠
- p.Leu116Phe Single submitter ⚠
- p.Leu280Phe Single submitter ⚠
- p.Leu28Phe Single submitter ⚠
- p.Leu45Pro Single submitter ⚠
- p.Met295Ile Single submitter ⚠
- p.Met408Val Single submitter ⚠
- p.Phe162Leu Single submitter ⚠
- p.Phe317Leu Single submitter ⚠
- p.Phe476Ser Single submitter ⚠
- p.Pro114Leu Single submitter ⚠
- p.Pro133Ser Single submitter ⚠
- p.Pro232Thr Single submitter ⚠
- p.Pro307Gln Single submitter ⚠
- p.Pro314Leu Single submitter
- p.Pro314Thr Single submitter
- p.Pro333Leu Single submitter ⚠
- p.Pro35Leu Single submitter ⚠
- p.Pro424Ser Single submitter ⚠
- p.Pro463Arg Single submitter ⚠
- p.Ser127Pro Single submitter ⚠
- p.Ser483Phe Single submitter ⚠
- p.Ser50Cys Single submitter
- p.Ser50Phe Single submitter ⚠
- p.Ser73Gly Single submitter ⚠
- p.Thr168Ile Single submitter ⚠
- p.Thr17Ile Single submitter ⚠
- p.Thr17Ser Single submitter ⚠
- p.Thr264Met Single submitter ⚠
- p.Thr363Met Single submitter ⚠
- p.Tyr126Phe Single submitter ⚠
- p.Tyr16His Single submitter ⚠
- p.Tyr16Phe Single submitter ⚠
- p.Tyr252Cys Single submitter ⚠
- p.Tyr279Asn Single submitter ⚠
- p.Tyr299Cys Single submitter ⚠
- p.Tyr335Cys Single submitter
- p.Tyr401Phe Single submitter ⚠
- p.Tyr465His Single submitter ⚠
- p.Val312Ile Single submitter ⚠
- p.Val312Leu Single submitter ⚠
- p.Val421Ala Single submitter ⚠