CEMP1 — 41 ClinVar variants
All ClinVar germline CEMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
5 Likely benign · 36 Uncertain significance
Full CEMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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.
- CEMP1 p.Ala153Val Uncertain significance Single submitter
- CEMP1 p.Ala49Thr Uncertain significance Single submitter
- CEMP1 p.Ala62Val Uncertain significance Single submitter
- CEMP1 p.Arg155Ser Uncertain significance Single submitter
- CEMP1 p.Arg161Ser Uncertain significance Single submitter
- CEMP1 p.Arg80Cys Uncertain significance Single submitter
- CEMP1 p.Arg80Ser Uncertain significance Single submitter
- CEMP1 p.Arg94Lys Uncertain significance Single submitter
- CEMP1 p.Cys110Tyr Uncertain significance Single submitter
- CEMP1 p.Cys232Phe Uncertain significance Single submitter
- CEMP1 p.Glu239Lys Uncertain significance Single submitter
- CEMP1 p.Glu74Val Uncertain significance Single submitter
- CEMP1 p.Gly118Asp Uncertain significance Single submitter
- CEMP1 p.Gly12Arg Uncertain significance Single submitter
- CEMP1 p.Gly170Glu Uncertain significance Single submitter
- CEMP1 p.Gly220Arg Uncertain significance Single submitter
- CEMP1 p.Gly234Ala Uncertain significance Single submitter
- CEMP1 p.Gly33Arg Uncertain significance Single submitter
- CEMP1 p.Leu143Phe Uncertain significance Single submitter
- CEMP1 p.Leu41Phe Uncertain significance Single submitter
- CEMP1 p.Pro122Leu Uncertain significance Single submitter
- CEMP1 p.Pro32Ser Uncertain significance Single submitter
- CEMP1 p.Pro35Arg Uncertain significance Single submitter
- CEMP1 p.Pro44Leu Uncertain significance Single submitter
- CEMP1 p.Pro54Leu Uncertain significance Single submitter
- CEMP1 p.Pro88Leu Uncertain significance Single submitter
- CEMP1 p.Ser22Leu Uncertain significance Single submitter
- CEMP1 p.Thr18Ile Uncertain significance Single submitter
- CEMP1 p.Thr200Ala Uncertain significance Single submitter
- CEMP1 p.Val189Met Uncertain significance Single submitter
- CEMP1 p.Val201Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CEMP1 variants
Likely benign 5
- p.Ala58Thr Single submitter
- p.Ala58Val Single submitter
- p.Arg155Cys Single submitter
- p.Thr196Met Single submitter
- p.Val156Ile Single submitter
Uncertain significance 36
- p.Ala153Val Single submitter ⚠
- p.Ala49Thr Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Arg155Ser Single submitter ⚠
- p.Arg161Ser Single submitter ⚠
- p.Arg80Cys Single submitter ⚠
- p.Arg80Ser Single submitter ⚠
- p.Arg94Lys Single submitter ⚠
- p.Cys110Tyr Single submitter ⚠
- p.Cys232Phe Single submitter ⚠
- p.Gln144His Single submitter ⚠
- p.Glu239Lys Single submitter ⚠
- p.Glu74Val Single submitter ⚠
- p.Gly118Asp Single submitter ⚠
- p.Gly12Arg Single submitter ⚠
- p.Gly170Glu Single submitter ⚠
- p.Gly220Arg Single submitter ⚠
- p.Gly234Ala Single submitter ⚠
- p.Gly33Arg Single submitter ⚠
- p.His137Gln Single submitter ⚠
- p.Ile66Thr Single submitter ⚠
- p.Leu143Phe Single submitter ⚠
- p.Leu41Phe Single submitter ⚠
- p.Pro122Leu Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Pro35Arg Single submitter ⚠
- p.Pro44Leu Single submitter ⚠
- p.Pro54Leu Single submitter ⚠
- p.Pro88Leu Single submitter ⚠
- p.Ser22Leu Single submitter ⚠
- p.Thr18Ile Single submitter ⚠
- p.Thr200Ala Single submitter ⚠
- p.Trp133Cys Single submitter ⚠
- p.Trp85Leu Single submitter ⚠
- p.Val189Met Single submitter ⚠
- p.Val201Met Single submitter ⚠