CES1 — 102 ClinVar variants
All ClinVar germline CES1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
2 Pathogenic · 1 Conflicting · 7 Likely benign · 92 Uncertain significance
Full CES1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CES1 p.Ala149Glu Uncertain significance Single submitter
-
CES1 p.Ala45Val
Uncertain significance
Single submitter
CES1-related condition
- CES1 p.Ala72Glu Uncertain significance Single submitter
- CES1 p.Ala72Val Uncertain significance Single submitter
- CES1 p.Arg172His Uncertain significance Single submitter
- CES1 p.Arg314Lys Uncertain significance Single submitter
- CES1 p.Arg65Lys Uncertain significance Single submitter
- CES1 p.Asn205Tyr Uncertain significance Single submitter
- CES1 p.Asn80Asp Uncertain significance Single submitter
- CES1 p.Asp420Glu Uncertain significance Single submitter
- CES1 p.Cys88Phe Uncertain significance Single submitter
- CES1 p.Gln170Lys Uncertain significance Single submitter
- CES1 p.Gln195His Uncertain significance Single submitter
- CES1 p.Gln46Arg Uncertain significance Single submitter
- CES1 p.Glu221Lys Uncertain significance Single submitter
- CES1 p.Gly350Arg Uncertain significance Single submitter
- CES1 p.Gly407Val Uncertain significance Single submitter
- CES1 p.Gly53Arg Uncertain significance Single submitter
- CES1 p.Gly53Glu Uncertain significance Single submitter
- CES1 p.His141Arg Uncertain significance Single submitter
- CES1 p.His161Arg Uncertain significance Single submitter
- CES1 p.His343Tyr Uncertain significance Single submitter
- CES1 p.Ile109Val Uncertain significance Single submitter
- CES1 p.Ile206Asn Uncertain significance Single submitter
- CES1 p.Ile218Asn Uncertain significance Single submitter
- CES1 p.Leu330Val Uncertain significance Single submitter
- CES1 p.Leu359Met Uncertain significance Single submitter
- CES1 p.Leu374Val Uncertain significance Single submitter
- CES1 p.Lys79Arg Uncertain significance Single submitter
- CES1 p.Met137Thr Uncertain significance Single submitter
- CES1 p.Met146Ile Uncertain significance Single submitter
- CES1 p.Met365Ile Uncertain significance Single submitter
- CES1 p.Met87Val Uncertain significance Single submitter
- CES1 p.Pro135Leu Uncertain significance Single submitter
- CES1 p.Pro21Leu Uncertain significance Single submitter
- CES1 p.Pro69Leu Uncertain significance Single submitter
- CES1 p.Pro69Ser Uncertain significance Single submitter
- CES1 p.Ser180Arg Uncertain significance Single submitter
- CES1 p.Ser280Phe Uncertain significance Single submitter
- CES1 p.Ser306Phe Uncertain significance Single submitter
- CES1 p.Thr278Ala Uncertain significance Single submitter
- CES1 p.Thr29Asn Uncertain significance Single submitter
- CES1 p.Thr322Ala Uncertain significance Single submitter
- CES1 p.Thr378Ser Uncertain significance Single submitter
- CES1 p.Thr411Ala Uncertain significance Single submitter
- CES1 p.Trp75Cys Uncertain significance Single submitter
- CES1 p.Tyr387Cys Uncertain significance Single submitter
- CES1 p.Tyr404His Uncertain significance Single submitter
- CES1 p.Val138Ala Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
-
CES1 p.Val166Met
Uncertain significance
Multiple submitters
CES1-related condition
- CES1 p.Ala126Asp Uncertain significance Single submitter
- CES1 p.Ala126Val Uncertain significance Single submitter
- CES1 p.Ala160Thr Uncertain significance Single submitter
- CES1 p.Ala197Asp Uncertain significance Single submitter
- CES1 p.Ala338Gly Uncertain significance Single submitter
- CES1 p.Ala400Asp Uncertain significance Single submitter
- CES1 p.Arg187Trp Uncertain significance Single submitter
- CES1 p.Arg200Ser Uncertain significance Single submitter
- CES1 p.Arg288Leu Uncertain significance Single submitter
- CES1 p.Arg436Gln Uncertain significance Single submitter
- CES1 p.Arg436Gly Uncertain significance Single submitter
- CES1 p.Asn132Tyr Uncertain significance Single submitter
- CES1 p.Asp312His Uncertain significance Single submitter
- CES1 p.Asp410Glu Uncertain significance Single submitter
- CES1 p.Asp416Tyr Uncertain significance Single submitter
- CES1 p.Glu107Gly Uncertain significance Single submitter
-
CES1 p.Glu221Gly
Uncertain significance
Single submitter
DRUG METABOLISM, ALTERED, CES1-RELATED
- CES1 p.Gly182Arg Uncertain significance Single submitter
- CES1 p.His192Asn Uncertain significance Single submitter
- CES1 p.Ile324Thr Uncertain significance Single submitter
- CES1 p.Ile422Arg Uncertain significance Single submitter
- CES1 p.Leu11Ile Uncertain significance Single submitter
- CES1 p.Lys130Glu Uncertain significance Single submitter
- CES1 p.Lys403Ile Uncertain significance Single submitter
- CES1 p.Lys413Arg Uncertain significance Single submitter
- CES1 p.Met348Thr Uncertain significance Single submitter
- CES1 p.Pro135Ser Uncertain significance Single submitter
- CES1 p.Pro264Leu Uncertain significance Single submitter
- CES1 p.Pro313His Uncertain significance Single submitter
- CES1 p.Pro333Ser Uncertain significance Single submitter
- CES1 p.Pro47Ser Uncertain significance Single submitter
- CES1 p.Pro86Thr Uncertain significance Single submitter
- CES1 p.Ser99Pro Uncertain significance Single submitter
- CES1 p.Thr291Ala Uncertain significance Single submitter
- CES1 p.Thr298Met Uncertain significance Single submitter
- CES1 p.Thr82Ile Uncertain significance Single submitter
- CES1 p.Val164Met Uncertain significance Single submitter
- CES1 p.Val250Met Uncertain significance Single submitter
- CES1 p.Val345Phe Uncertain significance Single submitter
- CES1 p.Val429Gly Uncertain significance Single submitter
- CES1 p.Val432Glu Uncertain significance Single submitter
All CES1 variants
Pathogenic 2
- p.Asp261fs No assertion criteria DRUG METABOLISM, ALTERED, CES1-RELATED
- p.Gly143Glu No assertion criteria DRUG METABOLISM, ALTERED, CES1-RELATED
Conflicting classifications of pathogenicity 1
- p.Tyr367Cys Single submitter ⚠
Likely benign 7
- p.Asn341Lys Single submitter
- p.Cys391Tyr Single submitter
- p.Ile271Val Single submitter
- p.Ile360Leu Single submitter
- p.Ile433Thr Single submitter
- p.Leu97Phe Single submitter
- p.Val262Ile Single submitter
Uncertain significance 92
- p.Val166Met Multiple submitters CES1-related condition ⚠
- p.Ala126Asp Single submitter ⚠
- p.Ala126Val Single submitter ⚠
- p.Ala149Glu Single submitter ⚠
- p.Ala160Thr Single submitter ⚠
- p.Ala197Asp Single submitter ⚠
- p.Ala338Gly Single submitter ⚠
- p.Ala400Asp Single submitter ⚠
- p.Ala45Val Single submitter CES1-related condition ⚠
- p.Ala72Glu Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Arg172His Single submitter ⚠
- p.Arg187Trp Single submitter ⚠
- p.Arg200Ser Single submitter ⚠
- p.Arg288Leu Single submitter ⚠
- p.Arg314Lys Single submitter ⚠
- p.Arg436Gln Single submitter ⚠
- p.Arg436Gly Single submitter ⚠
- p.Arg65Lys Single submitter ⚠
- p.Asn132Tyr Single submitter ⚠
- p.Asn205Tyr Single submitter ⚠
- p.Asn80Asp Single submitter ⚠
- p.Asp312His Single submitter ⚠
- p.Asp410Glu Single submitter ⚠
- p.Asp416Tyr Single submitter ⚠
- p.Asp420Glu Single submitter ⚠
- p.Cys88Phe Single submitter ⚠
- p.Gln170Lys Single submitter ⚠
- p.Gln195His Single submitter ⚠
- p.Gln46Arg Single submitter ⚠
- p.Glu107Gly Single submitter ⚠
- p.Glu221Gly Single submitter DRUG METABOLISM, ALTERED, CES1-RELATED ⚠
- p.Glu221Lys Single submitter ⚠
- p.Gly182Arg Single submitter ⚠
- p.Gly350Arg Single submitter ⚠
- p.Gly407Val Single submitter ⚠
- p.Gly53Arg Single submitter ⚠
- p.Gly53Glu Single submitter ⚠
- p.His141Arg Single submitter ⚠
- p.His161Arg Single submitter ⚠
- p.His192Asn Single submitter ⚠
- p.His343Tyr Single submitter ⚠
- p.Ile109Val Single submitter ⚠
- p.Ile206Asn Single submitter ⚠
- p.Ile218Asn Single submitter ⚠
- p.Ile324Thr Single submitter ⚠
- p.Ile422Arg Single submitter ⚠
- p.Leu11Ile Single submitter ⚠
- p.Leu319fs Single submitter DRUG METABOLISM, ALTERED, CES1-RELATED
- p.Leu330Val Single submitter ⚠
- p.Leu359Met Single submitter ⚠
- p.Leu374Val Single submitter ⚠
- p.Lys130Glu Single submitter ⚠
- p.Lys403Ile Single submitter ⚠
- p.Lys413Arg Single submitter ⚠
- p.Lys79Arg Single submitter ⚠
- p.Met137Thr Single submitter ⚠
- p.Met146Ile Single submitter ⚠
- p.Met348Thr Single submitter ⚠
- p.Met365Ile Single submitter ⚠
- p.Met87Val Single submitter ⚠
- p.Pro135Leu Single submitter ⚠
- p.Pro135Ser Single submitter ⚠
- p.Pro21Leu Single submitter ⚠
- p.Pro264Leu Single submitter ⚠
- p.Pro313His Single submitter ⚠
- p.Pro333Ser Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Pro69Leu Single submitter ⚠
- p.Pro69Ser Single submitter ⚠
- p.Pro86Thr Single submitter ⚠
- p.Ser180Arg Single submitter ⚠
- p.Ser280Phe Single submitter ⚠
- p.Ser306Phe Single submitter ⚠
- p.Ser99Pro Single submitter ⚠
- p.Thr278Ala Single submitter ⚠
- p.Thr291Ala Single submitter ⚠
- p.Thr298Met Single submitter ⚠
- p.Thr29Asn Single submitter ⚠
- p.Thr322Ala Single submitter ⚠
- p.Thr378Ser Single submitter ⚠
- p.Thr411Ala Single submitter ⚠
- p.Thr82Ile Single submitter ⚠
- p.Trp75Cys Single submitter ⚠
- p.Tyr387Cys Single submitter ⚠
- p.Tyr404His Single submitter ⚠
- p.Val138Ala Single submitter ⚠
- p.Val164Met Single submitter ⚠
- p.Val250Met Single submitter ⚠
- p.Val345Phe Single submitter ⚠
- p.Val429Gly Single submitter ⚠
- p.Val432Glu Single submitter ⚠