CERS2 — 51 ClinVar variants
All ClinVar germline CERS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
3 Benign · 4 Likely benign · 44 Uncertain significance
Full CERS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CERS2 p.Ala23Ser Uncertain significance Single submitter
- CERS2 p.Ala46Gly Uncertain significance Single submitter
- CERS2 p.Arg112Cys Uncertain significance Single submitter
- CERS2 p.Arg116His Uncertain significance Single submitter
-
CERS2 p.Arg120Cys
Uncertain significance
Single submitter
Marfanoid habitus and intellectual disability
- CERS2 p.Arg13His Uncertain significance Single submitter
- CERS2 p.Arg31His Uncertain significance Single submitter
- CERS2 p.Arg343Gly Uncertain significance Single submitter
- CERS2 p.Arg363Gln Uncertain significance Single submitter
- CERS2 p.Arg377Pro Uncertain significance Single submitter
- CERS2 p.Arg75Gln Uncertain significance Single submitter
- CERS2 p.Asn373Asp Uncertain significance Single submitter
- CERS2 p.Asn373Ser Uncertain significance Single submitter
- CERS2 p.His328Arg Uncertain significance Single submitter
- CERS2 p.Ile172Met Uncertain significance Single submitter
- CERS2 p.Ile217Val Uncertain significance Single submitter
- CERS2 p.Ile218Val Uncertain significance Single submitter
- CERS2 p.Ile266Val Uncertain significance Single submitter
- CERS2 p.Ile41Val Uncertain significance Single submitter
- CERS2 p.Ile51Val Uncertain significance Single submitter
- CERS2 p.Leu47Phe Uncertain significance Single submitter
- CERS2 p.Leu76Pro Uncertain significance Single submitter
- CERS2 p.Lys35Arg Uncertain significance Single submitter
- CERS2 p.Pro79Ser Uncertain significance Single submitter
- CERS2 p.Ser196Arg Uncertain significance Single submitter
- CERS2 p.Tyr170Cys Uncertain significance Single submitter
- CERS2 p.Tyr254Cys Uncertain significance Single submitter
- CERS2 p.Tyr8Phe Uncertain significance Single submitter
- CERS2 p.Val153Ile Uncertain significance Single submitter
- CERS2 p.Val201Ile Uncertain significance Single submitter
- CERS2 p.Val98Gly Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CERS2 p.Ala23Val Uncertain significance Single submitter
- CERS2 p.Arg105Leu Uncertain significance Single submitter
- CERS2 p.Arg13Pro Uncertain significance Single submitter
- CERS2 p.Arg28Leu Uncertain significance Single submitter
- CERS2 p.Arg363Trp Uncertain significance Single submitter
- CERS2 p.Gln106His Uncertain significance Single submitter
- CERS2 p.Gly108Arg Uncertain significance Single submitter
- CERS2 p.Gly30Glu Uncertain significance Single submitter
All CERS2 variants
Likely benign 4
- p.Ile176Val Single submitter
- p.Leu289Val Single submitter
- p.Val267Ile Single submitter
- p.Val52Ile Single submitter
Uncertain significance 44
- p.Ala23Ser Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala34Thr Single submitter
- p.Ala46Gly Single submitter ⚠
- p.Arg105Leu Single submitter ⚠
- p.Arg112Cys Single submitter ⚠
- p.Arg116His Single submitter ⚠
- p.Arg120Cys Single submitter Marfanoid habitus and intellectual disability ⚠
- p.Arg13His Single submitter ⚠
- p.Arg13Pro Single submitter ⚠
- p.Arg28Leu Single submitter ⚠
- p.Arg31His Single submitter ⚠
- p.Arg31Ser Single submitter
- p.Arg343Gly Single submitter ⚠
- p.Arg363Gln Single submitter ⚠
- p.Arg363Trp Single submitter ⚠
- p.Arg377Pro Single submitter ⚠
- p.Arg75Gln Single submitter ⚠
- p.Asn373Asp Single submitter ⚠
- p.Asn373Ser Single submitter ⚠
- p.Asn81Tyr Single submitter
- p.Asp24Asn Single submitter
- p.Gln106His Single submitter ⚠
- p.Gly108Arg Single submitter ⚠
- p.Gly30Glu Single submitter ⚠
- p.His328Arg Single submitter ⚠
- p.Ile172Met Single submitter ⚠
- p.Ile197Met Single submitter
- p.Ile217Val Single submitter ⚠
- p.Ile218Val Single submitter ⚠
- p.Ile266Val Single submitter ⚠
- p.Ile41Val Single submitter ⚠
- p.Ile51Val Single submitter ⚠
- p.Leu47Phe Single submitter ⚠
- p.Leu76Pro Single submitter ⚠
- p.Lys35Arg Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Ser196Arg Single submitter ⚠
- p.Tyr170Cys Single submitter ⚠
- p.Tyr254Cys Single submitter ⚠
- p.Tyr8Phe Single submitter ⚠
- p.Val153Ile Single submitter ⚠
- p.Val201Ile Single submitter ⚠
- p.Val98Gly Single submitter ⚠