CER1 — 45 ClinVar variants
All ClinVar germline CER1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
5 Likely benign · 40 Uncertain significance
Full CER1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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.
- CER1 p.Ala198Val Uncertain significance Single submitter
- CER1 p.Ala199Gly Uncertain significance Single submitter
- CER1 p.Ala199Val Uncertain significance Single submitter
- CER1 p.Ala59Thr Uncertain significance Single submitter
- CER1 p.Arg24His Uncertain significance Single submitter
- CER1 p.Arg85Lys Uncertain significance Single submitter
- CER1 p.Arg92Thr Uncertain significance Single submitter
- CER1 p.Arg98Gly Uncertain significance Single submitter
- CER1 p.Asn26Ile Uncertain significance Single submitter
- CER1 p.Asp117Val Uncertain significance Single submitter
- CER1 p.Cys186Tyr Uncertain significance Single submitter
- CER1 p.Gln7Leu Uncertain significance Single submitter
- CER1 p.Gly191Arg Uncertain significance Single submitter
- CER1 p.Gly45Asp Uncertain significance Single submitter
- CER1 p.His155Asp Uncertain significance Single submitter
- CER1 p.His20Asn Uncertain significance Single submitter
- CER1 p.His20Leu Uncertain significance Single submitter
- CER1 p.His47Asn Uncertain significance Single submitter
- CER1 p.His62Gln Uncertain significance Single submitter
- CER1 p.Met234Leu Uncertain significance Single submitter
- CER1 p.Pro107Leu Uncertain significance Single submitter
- CER1 p.Pro115Ser Uncertain significance Single submitter
- CER1 p.Pro13Leu Uncertain significance Single submitter
- CER1 p.Pro263Thr Uncertain significance Single submitter
- CER1 p.Pro32His Uncertain significance Single submitter
- CER1 p.Pro36Arg Uncertain significance Single submitter
- CER1 p.Ser67Asn Uncertain significance Single submitter
- CER1 p.Thr204Asn Uncertain significance Single submitter
- CER1 p.Thr44Ile Uncertain significance Single submitter
- CER1 p.Val181Ala Uncertain significance Single submitter
- CER1 p.Val33Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CER1 p.Arg24Cys Uncertain significance Single submitter
- CER1 p.Leu221Val Uncertain significance Single submitter
- CER1 p.Leu3Val Uncertain significance Single submitter
- CER1 p.Lys244Asn Uncertain significance Single submitter
- CER1 p.Lys89Met Uncertain significance Single submitter
- CER1 p.Phe167Leu Uncertain significance Single submitter
- CER1 p.Ser227Phe Uncertain significance Single submitter
- CER1 p.Thr215Ile Uncertain significance Single submitter
- CER1 p.Thr216Met Uncertain significance Single submitter
All CER1 variants
Likely benign 5
- p.Arg127Gln Single submitter
- p.Asn38Ser Single submitter
- p.Ile230Val Single submitter
- p.Leu30Val Single submitter
- p.Val58= Single submitter
Uncertain significance 40
- p.Ala198Val Single submitter ⚠
- p.Ala199Gly Single submitter ⚠
- p.Ala199Val Single submitter ⚠
- p.Ala59Thr Single submitter ⚠
- p.Arg24Cys Single submitter ⚠
- p.Arg24His Single submitter ⚠
- p.Arg85Lys Single submitter ⚠
- p.Arg92Thr Single submitter ⚠
- p.Arg98Gly Single submitter ⚠
- p.Asn26Ile Single submitter ⚠
- p.Asp117Val Single submitter ⚠
- p.Cys186Tyr Single submitter ⚠
- p.Gln7Leu Single submitter ⚠
- p.Gly191Arg Single submitter ⚠
- p.Gly45Asp Single submitter ⚠
- p.His155Asp Single submitter ⚠
- p.His20Asn Single submitter ⚠
- p.His20Leu Single submitter ⚠
- p.His47Asn Single submitter ⚠
- p.His62Gln Single submitter ⚠
- p.Leu221Val Single submitter ⚠
- p.Leu3Val Single submitter ⚠
- p.Lys244Asn Single submitter ⚠
- p.Lys89Met Single submitter ⚠
- p.Met234Leu Single submitter ⚠
- p.Phe167Leu Single submitter ⚠
- p.Pro107Leu Single submitter ⚠
- p.Pro115Ser Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro263Thr Single submitter ⚠
- p.Pro32His Single submitter ⚠
- p.Pro36Arg Single submitter ⚠
- p.Ser227Phe Single submitter ⚠
- p.Ser67Asn Single submitter ⚠
- p.Thr204Asn Single submitter ⚠
- p.Thr215Ile Single submitter ⚠
- p.Thr216Met Single submitter ⚠
- p.Thr44Ile Single submitter ⚠
- p.Val181Ala Single submitter ⚠
- p.Val33Ile Single submitter ⚠