CES4A — 84 ClinVar variants
All ClinVar germline CES4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
15 Likely benign · 69 Uncertain significance
Full CES4A 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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CES4A p.Ala127Thr Uncertain significance Single submitter
- CES4A p.Ala158Val Uncertain significance Single submitter
- CES4A p.Ala222Glu Uncertain significance Single submitter
- CES4A p.Ala224Thr Uncertain significance Single submitter
- CES4A p.Ala250Val Uncertain significance Single submitter
- CES4A p.Ala271Thr Uncertain significance Single submitter
- CES4A p.Arg111His Uncertain significance Single submitter
- CES4A p.Arg242Gln Uncertain significance Single submitter
- CES4A p.Arg368Trp Uncertain significance Single submitter
- CES4A p.Arg518His Uncertain significance Single submitter
- CES4A p.Asn520Lys Uncertain significance Single submitter
- CES4A p.Asp130Asn Uncertain significance Single submitter
- CES4A p.Asp310His Uncertain significance Single submitter
- CES4A p.Asp510Glu Uncertain significance Single submitter
- CES4A p.Cys273Tyr Uncertain significance Single submitter
- CES4A p.Cys88Trp Uncertain significance Single submitter
- CES4A p.Gln28Arg Uncertain significance Single submitter
- CES4A p.Gln393His Uncertain significance Single submitter
- CES4A p.Gln40Glu Uncertain significance Single submitter
- CES4A p.Gln90Pro Uncertain significance Single submitter
- CES4A p.Gln95Pro Uncertain significance Single submitter
- CES4A p.Glu407Lys Uncertain significance Single submitter
- CES4A p.Gly129Ala Uncertain significance Single submitter
- CES4A p.Gly141Glu Uncertain significance Single submitter
- CES4A p.His269Arg Uncertain significance Single submitter
- CES4A p.His42Tyr Uncertain significance Single submitter
- CES4A p.Ile420Val Uncertain significance Single submitter
- CES4A p.Ile4Thr Uncertain significance Single submitter
- CES4A p.Ile78Val Uncertain significance Single submitter
- CES4A p.Leu110Arg Uncertain significance Single submitter
- CES4A p.Leu168Arg Uncertain significance Single submitter
- CES4A p.Leu261Arg Uncertain significance Single submitter
- CES4A p.Leu305Met Uncertain significance Single submitter
- CES4A p.Lys25Arg Uncertain significance Single submitter
- CES4A p.Lys265Met Uncertain significance Single submitter
- CES4A p.Met318Ile Uncertain significance Single submitter
- CES4A p.Met418Ile Uncertain significance Single submitter
- CES4A p.Phe175Cys Uncertain significance Single submitter
- CES4A p.Pro514Leu Uncertain significance Single submitter
- CES4A p.Pro60Ala Uncertain significance Single submitter
- CES4A p.Pro71Ser Uncertain significance Single submitter
- CES4A p.Ser237Leu Uncertain significance Single submitter
- CES4A p.Ser258Asn Uncertain significance Single submitter
- CES4A p.Ser341Pro Uncertain significance Single submitter
- CES4A p.Thr17Met Uncertain significance Single submitter
- CES4A p.Thr383Ala Uncertain significance Single submitter
- CES4A p.Thr433Ile Uncertain significance Single submitter
- CES4A p.Trp200Gly Uncertain significance Single submitter
- CES4A p.Trp93Ser Uncertain significance Single submitter
- CES4A p.Val293Leu Uncertain significance Single submitter
- CES4A p.Val349Ile Uncertain significance Single submitter
- CES4A p.Val398Ala Uncertain significance Single submitter
- CES4A p.Val398Glu Uncertain significance Single submitter
- CES4A p.Val427Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- CES4A p.Ala185Glu Uncertain significance Single submitter
- CES4A p.Ala236Val Uncertain significance Single submitter
- CES4A p.Arg199Cys Uncertain significance Single submitter
- CES4A p.Asn306Tyr Uncertain significance Single submitter
- CES4A p.Asp423Glu Uncertain significance Single submitter
- CES4A p.His437Arg Uncertain significance Single submitter
- CES4A p.Leu526Val Likely benign Single submitter
- CES4A p.Phe139Ser Uncertain significance Single submitter
- CES4A p.Phe175Leu Likely benign Single submitter
- CES4A p.Phe255Leu Uncertain significance Single submitter
- CES4A p.Phe364Leu Uncertain significance Single submitter
- CES4A p.Pro311Leu Uncertain significance Single submitter
- CES4A p.Pro365Leu Uncertain significance Single submitter
- CES4A p.Pro395Leu Uncertain significance Single submitter
- CES4A p.Pro85Leu Uncertain significance Single submitter
All CES4A variants
Likely benign 15
- p.Ala125Val Single submitter
- p.Ala15Val Single submitter
- p.Arg368Gln Single submitter
- p.Arg518Cys Single submitter
- p.Arg533Ser Single submitter
- p.Asn351Ser Single submitter
- p.Asn355Ser Single submitter
- p.Cys515Arg Single submitter
- p.Gly44Glu Single submitter
- p.Leu526Val Single submitter ⚠
- p.Phe175Leu Single submitter ⚠
- p.Pro514Ser Single submitter
- p.Pro72Leu Single submitter
- p.Thr433Ala Single submitter
- p.Thr532Ala Single submitter
Uncertain significance 69
- p.Ala127Thr Single submitter ⚠
- p.Ala158Val Single submitter ⚠
- p.Ala185Glu Single submitter ⚠
- p.Ala222Glu Single submitter ⚠
- p.Ala224Thr Single submitter ⚠
- p.Ala236Val Single submitter ⚠
- p.Ala250Val Single submitter ⚠
- p.Ala271Thr Single submitter ⚠
- p.Arg111His Single submitter ⚠
- p.Arg199Cys Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg368Trp Single submitter ⚠
- p.Arg518His Single submitter ⚠
- p.Asn306Tyr Single submitter ⚠
- p.Asn520Lys Single submitter ⚠
- p.Asp130Asn Single submitter ⚠
- p.Asp310His Single submitter ⚠
- p.Asp423Glu Single submitter ⚠
- p.Asp510Glu Single submitter ⚠
- p.Asp522= Single submitter
- p.Cys273Tyr Single submitter ⚠
- p.Cys88Trp Single submitter ⚠
- p.Gln28Arg Single submitter ⚠
- p.Gln393His Single submitter ⚠
- p.Gln40Glu Single submitter ⚠
- p.Gln90Pro Single submitter ⚠
- p.Gln95Pro Single submitter ⚠
- p.Glu407Lys Single submitter ⚠
- p.Gly129Ala Single submitter ⚠
- p.Gly141Glu Single submitter ⚠
- p.His269Arg Single submitter ⚠
- p.His42Tyr Single submitter ⚠
- p.His437Arg Single submitter ⚠
- p.Ile420Val Single submitter ⚠
- p.Ile4Thr Single submitter ⚠
- p.Ile78Val Single submitter ⚠
- p.Leu110Arg Single submitter ⚠
- p.Leu168Arg Single submitter ⚠
- p.Leu261Arg Single submitter ⚠
- p.Leu305Met Single submitter ⚠
- p.Lys25Arg Single submitter ⚠
- p.Lys265Met Single submitter ⚠
- p.Met318Ile Single submitter ⚠
- p.Met418Ile Single submitter ⚠
- p.Phe139Ser Single submitter ⚠
- p.Phe175Cys Single submitter ⚠
- p.Phe255Leu Single submitter ⚠
- p.Phe364Leu Single submitter ⚠
- p.Pro311Leu Single submitter ⚠
- p.Pro365Leu Single submitter ⚠
- p.Pro395Leu Single submitter ⚠
- p.Pro514Leu Single submitter ⚠
- p.Pro60Ala Single submitter ⚠
- p.Pro71Ser Single submitter ⚠
- p.Pro85Leu Single submitter ⚠
- p.Ser237Leu Single submitter ⚠
- p.Ser258Asn Single submitter ⚠
- p.Ser341Pro Single submitter ⚠
- p.Thr17Met Single submitter ⚠
- p.Thr383Ala Single submitter ⚠
- p.Thr433Ile Single submitter ⚠
- p.Trp200Gly Single submitter ⚠
- p.Trp93Ser Single submitter ⚠
- p.Val282Ala Single submitter
- p.Val293Leu Single submitter ⚠
- p.Val349Ile Single submitter ⚠
- p.Val398Ala Single submitter ⚠
- p.Val398Glu Single submitter ⚠
- p.Val427Met Single submitter ⚠