CES5A — 78 ClinVar variants
All ClinVar germline CES5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
1 Benign · 7 Likely benign · 70 Uncertain significance
Full CES5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CES5A p.Ala154Gly Uncertain significance Single submitter
- CES5A p.Ala262Thr Uncertain significance Single submitter
- CES5A p.Ala282Val Uncertain significance Single submitter
- CES5A p.Ala334Thr Uncertain significance Single submitter
- CES5A p.Ala465Gly Uncertain significance Single submitter
- CES5A p.Ala465Pro Uncertain significance Single submitter
- CES5A p.Arg459Cys Uncertain significance Single submitter
- CES5A p.Arg486Gly Uncertain significance Single submitter
- CES5A p.Arg85Gln Uncertain significance Single submitter
- CES5A p.Asn193Ser Uncertain significance Single submitter
- CES5A p.Asn281Ser Uncertain significance Single submitter
- CES5A p.Asn34Ser Uncertain significance Single submitter
- CES5A p.Asn363Ser Uncertain significance Single submitter
- CES5A p.Asn387His Uncertain significance Single submitter
- CES5A p.Asp133Asn Uncertain significance Single submitter
- CES5A p.Asp187Ala Uncertain significance Single submitter
- CES5A p.Asp522Gly Uncertain significance Single submitter
- CES5A p.Asp551Ala Uncertain significance Single submitter
- CES5A p.Glu286Gly Uncertain significance Single submitter
- CES5A p.Glu29Gly Uncertain significance Single submitter
- CES5A p.Glu357Asp Uncertain significance Single submitter
- CES5A p.Gly192Val Uncertain significance Single submitter
- CES5A p.Gly243Asp Uncertain significance Single submitter
- CES5A p.Gly340Glu Uncertain significance Single submitter
- CES5A p.Gly42Ser Uncertain significance Single submitter
- CES5A p.Gly59Arg Uncertain significance Single submitter
- CES5A p.His106Arg Uncertain significance Single submitter
- CES5A p.His111Arg Uncertain significance Single submitter
- CES5A p.His423Tyr Uncertain significance Single submitter
- CES5A p.Ile156Val Uncertain significance Single submitter
- CES5A p.Ile374Thr Uncertain significance Single submitter
- CES5A p.Leu407Val Uncertain significance Single submitter
- CES5A p.Leu560Phe Uncertain significance Single submitter
- CES5A p.Lys364Asn Uncertain significance Single submitter
- CES5A p.Lys393Glu Uncertain significance Single submitter
- CES5A p.Met107Arg Uncertain significance Single submitter
- CES5A p.Met489Thr Uncertain significance Single submitter
- CES5A p.Phe213Val Uncertain significance Single submitter
- CES5A p.Phe474Ser Uncertain significance Single submitter
- CES5A p.Phe570Leu Uncertain significance Single submitter
- CES5A p.Pro429Leu Uncertain significance Single submitter
- CES5A p.Pro534Leu Uncertain significance Single submitter
- CES5A p.Pro80Leu Uncertain significance Single submitter
- CES5A p.Ser204Phe Uncertain significance Single submitter
- CES5A p.Trp143Cys Uncertain significance Single submitter
- CES5A p.Tyr165Phe Uncertain significance Single submitter
- CES5A p.Val314Ala Uncertain significance Single submitter
- CES5A p.Val410Met Uncertain significance Single submitter
- CES5A p.Val45Ile Uncertain significance Single submitter
- CES5A p.Val47Leu Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CES5A p.Ala161Thr Likely benign Single submitter
- CES5A p.Ala195Val Uncertain significance Single submitter
- CES5A p.Asp453Asn Uncertain significance Single submitter
- CES5A p.Glu434Asp Uncertain significance Single submitter
- CES5A p.Leu260Gln Uncertain significance Single submitter
- CES5A p.Leu303Arg Uncertain significance Single submitter
- CES5A p.Leu384Pro Uncertain significance Single submitter
- CES5A p.Leu58Phe Uncertain significance Single submitter
- CES5A p.Phe348Ser Uncertain significance Single submitter
- CES5A p.Pro191Leu Uncertain significance Single submitter
- CES5A p.Pro65Ser Uncertain significance Single submitter
- CES5A p.Pro75Thr Uncertain significance Single submitter
- CES5A p.Ser136Pro Uncertain significance Single submitter
- CES5A p.Ser238Thr Uncertain significance Single submitter
- CES5A p.Thr498Ala Uncertain significance Single submitter
- CES5A p.Trp100Arg Uncertain significance Single submitter
- CES5A p.Tyr431Cys Uncertain significance Single submitter
- CES5A p.Tyr433Cys Uncertain significance Single submitter
- CES5A p.Val173Phe Uncertain significance Single submitter
All CES5A variants
Benign 1
- p.Leu527= Multiple submitters
Likely benign 7
- p.Ala161Thr Single submitter ⚠
- p.Ala287Asp Single submitter
- p.Ala455Thr Single submitter
- p.Asp82Asn Single submitter
- p.Glu211Lys Single submitter
- p.Ile236Val Single submitter
- p.Lys298Glu Single submitter
Uncertain significance 70
- p.Ala154Gly Single submitter ⚠
- p.Ala195Val Single submitter ⚠
- p.Ala262Thr Single submitter ⚠
- p.Ala282Val Single submitter ⚠
- p.Ala334Thr Single submitter ⚠
- p.Ala465Gly Single submitter ⚠
- p.Ala465Pro Single submitter ⚠
- p.Arg293Gly Single submitter
- p.Arg459Cys Single submitter ⚠
- p.Arg486Gly Single submitter ⚠
- p.Arg85Gln Single submitter ⚠
- p.Asn193Ser Single submitter ⚠
- p.Asn281Ser Single submitter ⚠
- p.Asn34Ser Single submitter ⚠
- p.Asn363Ser Single submitter ⚠
- p.Asn387His Single submitter ⚠
- p.Asp133Asn Single submitter ⚠
- p.Asp187Ala Single submitter ⚠
- p.Asp453Asn Single submitter ⚠
- p.Asp522Gly Single submitter ⚠
- p.Asp551Ala Single submitter ⚠
- p.Glu286Gly Single submitter ⚠
- p.Glu29Gly Single submitter ⚠
- p.Glu357Asp Single submitter ⚠
- p.Glu434Asp Single submitter ⚠
- p.Gly192Val Single submitter ⚠
- p.Gly243Asp Single submitter ⚠
- p.Gly340Glu Single submitter ⚠
- p.Gly42Ser Single submitter ⚠
- p.Gly59Arg Single submitter ⚠
- p.His106Arg Single submitter ⚠
- p.His111Arg Single submitter ⚠
- p.His423Tyr Single submitter ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile374Thr Single submitter ⚠
- p.Leu260Gln Single submitter ⚠
- p.Leu303Arg Single submitter ⚠
- p.Leu384Pro Single submitter ⚠
- p.Leu407Val Single submitter ⚠
- p.Leu560Phe Single submitter ⚠
- p.Leu58Phe Single submitter ⚠
- p.Lys364Asn Single submitter ⚠
- p.Lys393Glu Single submitter ⚠
- p.Met107Arg Single submitter ⚠
- p.Met489Thr Single submitter ⚠
- p.Phe213Val Single submitter ⚠
- p.Phe348Ser Single submitter ⚠
- p.Phe474Ser Single submitter ⚠
- p.Phe570Leu Single submitter ⚠
- p.Pro139Arg Single submitter
- p.Pro191Leu Single submitter ⚠
- p.Pro429Leu Single submitter ⚠
- p.Pro534Leu Single submitter ⚠
- p.Pro65Ser Single submitter ⚠
- p.Pro75Thr Single submitter ⚠
- p.Pro80Leu Single submitter ⚠
- p.Ser136Pro Single submitter ⚠
- p.Ser204Phe Single submitter ⚠
- p.Ser238Thr Single submitter ⚠
- p.Thr498Ala Single submitter ⚠
- p.Trp100Arg Single submitter ⚠
- p.Trp143Cys Single submitter ⚠
- p.Tyr165Phe Single submitter ⚠
- p.Tyr431Cys Single submitter ⚠
- p.Tyr433Cys Single submitter ⚠
- p.Val173Phe Single submitter ⚠
- p.Val314Ala Single submitter ⚠
- p.Val410Met Single submitter ⚠
- p.Val45Ile Single submitter ⚠
- p.Val47Leu Single submitter ⚠