ESCO1 — 109 ClinVar variants
All ClinVar germline ESCO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →
1 Benign · 2 Likely benign · 106 Uncertain significance
Full ESCO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 106
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 81
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ESCO1 p.Ala213Ser Uncertain significance Single submitter
- ESCO1 p.Ala295Val Uncertain significance Single submitter
- ESCO1 p.Ala507Val Uncertain significance Single submitter
- ESCO1 p.Ala538Ser Uncertain significance Single submitter
- ESCO1 p.Ala551Pro Uncertain significance Single submitter
- ESCO1 p.Ala597Thr Uncertain significance Single submitter
- ESCO1 p.Arg121Lys Uncertain significance Single submitter
- ESCO1 p.Arg419Gln Uncertain significance Single submitter
- ESCO1 p.Asn466Thr Uncertain significance Single submitter
- ESCO1 p.Asn473Ser Uncertain significance Single submitter
- ESCO1 p.Asn527Lys Uncertain significance Single submitter
- ESCO1 p.Asp497Gly Uncertain significance Single submitter
- ESCO1 p.Asp601Glu Uncertain significance Single submitter
- ESCO1 p.Asp608Asn Uncertain significance Single submitter
- ESCO1 p.Asp715Val Uncertain significance Single submitter
- ESCO1 p.Cys160Arg Uncertain significance Single submitter
- ESCO1 p.Cys214Phe Uncertain significance Single submitter
- ESCO1 p.Cys216Gly Uncertain significance Single submitter
- ESCO1 p.Cys227Gly Uncertain significance Single submitter
- ESCO1 p.Cys483Gly Uncertain significance Single submitter
- ESCO1 p.Cys515Ser Uncertain significance Single submitter
- ESCO1 p.Gln117Glu Uncertain significance Single submitter
- ESCO1 p.Gln150Arg Uncertain significance Single submitter
- ESCO1 p.Gln211Arg Uncertain significance Single submitter
- ESCO1 p.Gln287Glu Uncertain significance Single submitter
- ESCO1 p.Gln29Arg Uncertain significance Single submitter
- ESCO1 p.Gln353Arg Uncertain significance Single submitter
- ESCO1 p.Gln403Arg Uncertain significance Single submitter
- ESCO1 p.Gln451Arg Uncertain significance Single submitter
- ESCO1 p.Gln514Arg Uncertain significance Single submitter
- ESCO1 p.Gln95Glu Uncertain significance Single submitter
- ESCO1 p.Glu338Lys Uncertain significance Single submitter
- ESCO1 p.Glu54Lys Uncertain significance Single submitter
- ESCO1 p.Glu684Lys Uncertain significance Single submitter
- ESCO1 p.Gly312Arg Uncertain significance Single submitter
- ESCO1 p.Gly549Asp Uncertain significance Single submitter
- ESCO1 p.His444Arg Uncertain significance Single submitter
- ESCO1 p.His583Arg Uncertain significance Single submitter
- ESCO1 p.His726Tyr Uncertain significance Single submitter
- ESCO1 p.Ile588Val Uncertain significance Single submitter
- ESCO1 p.Ile741Val Uncertain significance Single submitter
- ESCO1 p.Leu427Ser Uncertain significance Single submitter
- ESCO1 p.Leu496Ser Uncertain significance Single submitter
- ESCO1 p.Leu520Val Uncertain significance Single submitter
- ESCO1 p.Lys156Glu Uncertain significance Single submitter
- ESCO1 p.Lys157Glu Uncertain significance Single submitter
- ESCO1 p.Lys297Arg Uncertain significance Single submitter
- ESCO1 p.Lys386Asn Uncertain significance Single submitter
- ESCO1 p.Lys442Glu Uncertain significance Single submitter
- ESCO1 p.Lys456Gln Uncertain significance Single submitter
- ESCO1 p.Lys501Glu Uncertain significance Single submitter
- ESCO1 p.Lys50Glu Uncertain significance Single submitter
- ESCO1 p.Lys539Glu Uncertain significance Single submitter
- ESCO1 p.Lys9Thr Uncertain significance Single submitter
- ESCO1 p.Met328Ile Uncertain significance Single submitter
- ESCO1 p.Met328Thr Uncertain significance Single submitter
- ESCO1 p.Met455Thr Uncertain significance Single submitter
- ESCO1 p.Met701Leu Uncertain significance Single submitter
- ESCO1 p.Phe438Val Uncertain significance Single submitter
- ESCO1 p.Pro257Leu Uncertain significance Single submitter
- ESCO1 p.Pro277Ala Uncertain significance Single submitter
- ESCO1 p.Pro285Leu Uncertain significance Single submitter
- ESCO1 p.Pro578Ala Uncertain significance Single submitter
- ESCO1 p.Ser19Asn Uncertain significance Single submitter
- ESCO1 p.Ser265Leu Uncertain significance Single submitter
- ESCO1 p.Ser283Ala Uncertain significance Single submitter
- ESCO1 p.Ser330Thr Uncertain significance Single submitter
- ESCO1 p.Ser506Leu Uncertain significance Single submitter
- ESCO1 p.Ser55Asn Uncertain significance Single submitter
- ESCO1 p.Ser839Gly Uncertain significance Single submitter
- ESCO1 p.Thr170Ile Uncertain significance Single submitter
- ESCO1 p.Thr221Ala Uncertain significance Single submitter
- ESCO1 p.Thr275Ala Uncertain significance Single submitter
- ESCO1 p.Thr344Ala Uncertain significance Single submitter
- ESCO1 p.Thr371Ile Uncertain significance Single submitter
- ESCO1 p.Thr420Asn Uncertain significance Single submitter
- ESCO1 p.Thr562Lys Uncertain significance Single submitter
- ESCO1 p.Thr760Ala Uncertain significance Single submitter
- ESCO1 p.Val15Ile Uncertain significance Single submitter
- ESCO1 p.Val463Leu Uncertain significance Single submitter
- ESCO1 p.Val463Met Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- ESCO1 p.Arg120Gln Uncertain significance Single submitter
- ESCO1 p.Arg120Trp Uncertain significance Single submitter
- ESCO1 p.Arg364Cys Uncertain significance Single submitter
- ESCO1 p.Arg613Gly Uncertain significance Single submitter
- ESCO1 p.Arg69Gly Uncertain significance Single submitter
- ESCO1 p.Asn260Tyr Uncertain significance Single submitter
- ESCO1 p.Asn509His Uncertain significance Single submitter
- ESCO1 p.Cys376Arg Uncertain significance Single submitter
- ESCO1 p.Glu338Gly Uncertain significance Single submitter
- ESCO1 p.Ile668Val Uncertain significance Single submitter
- ESCO1 p.Ile741Met Uncertain significance Single submitter
- ESCO1 p.Leu535Phe Uncertain significance Single submitter
- ESCO1 p.Leu605Trp Uncertain significance Single submitter
- ESCO1 p.Lys247Asn Uncertain significance Single submitter
- ESCO1 p.Ser103Cys Uncertain significance Single submitter
- ESCO1 p.Ser135Leu Uncertain significance Single submitter
- ESCO1 p.Ser138Gly Uncertain significance Single submitter
- ESCO1 p.Ser167Cys Uncertain significance Single submitter
- ESCO1 p.Ser325Pro Uncertain significance Single submitter
- ESCO1 p.Ser383Cys Uncertain significance Single submitter
- ESCO1 p.Ser576Phe Uncertain significance Single submitter
- ESCO1 p.Ser70Pro Uncertain significance Single submitter
- ESCO1 p.Ser82Phe Uncertain significance Single submitter
- ESCO1 p.Thr237Met Uncertain significance Single submitter
- ESCO1 p.Trp729Arg Uncertain significance Single submitter
All ESCO1 variants
Benign 1
- c.1954-22AT[10] Single submitter
Likely benign 2
- p.Ala79Thr Single submitter
- p.Pro257= Single submitter
Uncertain significance 106
- p.Ala213Ser Single submitter ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala507Val Single submitter ⚠
- p.Ala538Ser Single submitter ⚠
- p.Ala551Pro Single submitter ⚠
- p.Ala597Thr Single submitter ⚠
- p.Arg120Gln Single submitter ⚠
- p.Arg120Trp Single submitter ⚠
- p.Arg121Lys Single submitter ⚠
- p.Arg364Cys Single submitter ⚠
- p.Arg419Gln Single submitter ⚠
- p.Arg613Gly Single submitter ⚠
- p.Arg69Gly Single submitter ⚠
- p.Asn260Tyr Single submitter ⚠
- p.Asn466Thr Single submitter ⚠
- p.Asn473Ser Single submitter ⚠
- p.Asn509His Single submitter ⚠
- p.Asn527Lys Single submitter ⚠
- p.Asp497Gly Single submitter ⚠
- p.Asp601Glu Single submitter ⚠
- p.Asp608Asn Single submitter ⚠
- p.Asp715Val Single submitter ⚠
- p.Cys160Arg Single submitter ⚠
- p.Cys214Phe Single submitter ⚠
- p.Cys216Gly Single submitter ⚠
- p.Cys227Gly Single submitter ⚠
- p.Cys376Arg Single submitter ⚠
- p.Cys483Gly Single submitter ⚠
- p.Cys515Ser Single submitter ⚠
- p.Gln117Glu Single submitter ⚠
- p.Gln150Arg Single submitter ⚠
- p.Gln211Arg Single submitter ⚠
- p.Gln287Glu Single submitter ⚠
- p.Gln29Arg Single submitter ⚠
- p.Gln353Arg Single submitter ⚠
- p.Gln403Arg Single submitter ⚠
- p.Gln451Arg Single submitter ⚠
- p.Gln514Arg Single submitter ⚠
- p.Gln95Glu Single submitter ⚠
- p.Glu338Gly Single submitter ⚠
- p.Glu338Lys Single submitter ⚠
- p.Glu54Lys Single submitter ⚠
- p.Glu684Lys Single submitter ⚠
- p.Gly312Arg Single submitter ⚠
- p.Gly549Asp Single submitter ⚠
- p.His444Arg Single submitter ⚠
- p.His583Arg Single submitter ⚠
- p.His726Tyr Single submitter ⚠
- p.Ile588Val Single submitter ⚠
- p.Ile668Val Single submitter ⚠
- p.Ile741Met Single submitter ⚠
- p.Ile741Val Single submitter ⚠
- p.Leu427Ser Single submitter ⚠
- p.Leu496Ser Single submitter ⚠
- p.Leu520Val Single submitter ⚠
- p.Leu535Phe Single submitter ⚠
- p.Leu605Trp Single submitter ⚠
- p.Lys156Glu Single submitter ⚠
- p.Lys157Glu Single submitter ⚠
- p.Lys247Asn Single submitter ⚠
- p.Lys297Arg Single submitter ⚠
- p.Lys386Asn Single submitter ⚠
- p.Lys442Glu Single submitter ⚠
- p.Lys456Gln Single submitter ⚠
- p.Lys501Glu Single submitter ⚠
- p.Lys50Glu Single submitter ⚠
- p.Lys539Glu Single submitter ⚠
- p.Lys9Thr Single submitter ⚠
- p.Met328Ile Single submitter ⚠
- p.Met328Thr Single submitter ⚠
- p.Met455Thr Single submitter ⚠
- p.Met701Leu Single submitter ⚠
- p.Phe438Val Single submitter ⚠
- p.Pro257Leu Single submitter ⚠
- p.Pro277Ala Single submitter ⚠
- p.Pro285Leu Single submitter ⚠
- p.Pro578Ala Single submitter ⚠
- p.Ser103Cys Single submitter ⚠
- p.Ser135Leu Single submitter ⚠
- p.Ser138Gly Single submitter ⚠
- p.Ser167Cys Single submitter ⚠
- p.Ser19Asn Single submitter ⚠
- p.Ser265Leu Single submitter ⚠
- p.Ser283Ala Single submitter ⚠
- p.Ser325Pro Single submitter ⚠
- p.Ser330Thr Single submitter ⚠
- p.Ser383Cys Single submitter ⚠
- p.Ser506Leu Single submitter ⚠
- p.Ser55Asn Single submitter ⚠
- p.Ser576Phe Single submitter ⚠
- p.Ser70Pro Single submitter ⚠
- p.Ser82Phe Single submitter ⚠
- p.Ser839Gly Single submitter ⚠
- p.Thr170Ile Single submitter ⚠
- p.Thr221Ala Single submitter ⚠
- p.Thr237Met Single submitter ⚠
- p.Thr275Ala Single submitter ⚠
- p.Thr344Ala Single submitter ⚠
- p.Thr371Ile Single submitter ⚠
- p.Thr420Asn Single submitter ⚠
- p.Thr562Lys Single submitter ⚠
- p.Thr760Ala Single submitter ⚠
- p.Trp729Arg Single submitter ⚠
- p.Val15Ile Single submitter ⚠
- p.Val463Leu Single submitter ⚠
- p.Val463Met Single submitter ⚠