CPN1 — 64 ClinVar variants
All ClinVar germline CPN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 5 Benign · 5 Likely benign · 52 Uncertain significance
Full CPN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPN1 p.Ala137Ser Uncertain significance Single submitter
- CPN1 p.Ala428Ser Uncertain significance Single submitter
- CPN1 p.Ala443Thr Uncertain significance Single submitter
- CPN1 p.Arg108Trp Uncertain significance Single submitter
- CPN1 p.Arg122Pro Uncertain significance Single submitter
- CPN1 p.Arg233Pro Uncertain significance Single submitter
- CPN1 p.Arg378Gln Uncertain significance Single submitter
- CPN1 p.Arg93Cys Uncertain significance Single submitter
- CPN1 p.Asn152Asp Uncertain significance Single submitter
- CPN1 p.Asn214Ser Uncertain significance Single submitter
- CPN1 p.Asn223Ser Uncertain significance Single submitter
- CPN1 p.Asn352Ser Uncertain significance Single submitter
- CPN1 p.Asp158His Uncertain significance Single submitter
- CPN1 p.Asp187Gly Uncertain significance Single submitter
- CPN1 p.Asp294Glu Uncertain significance Single submitter
- CPN1 p.Asp30Glu Uncertain significance Single submitter
- CPN1 p.Glu78Lys Uncertain significance Single submitter
- CPN1 p.Gly326Ser Uncertain significance Single submitter
- CPN1 p.His182Tyr Uncertain significance Single submitter
- CPN1 p.His25Tyr Uncertain significance Single submitter
- CPN1 p.His26Arg Uncertain significance Single submitter
- CPN1 p.His373Tyr Uncertain significance Single submitter
- CPN1 p.His59Asn Uncertain significance Single submitter
- CPN1 p.His86Asp Uncertain significance Single submitter
- CPN1 p.Ile123Val Uncertain significance Single submitter
- CPN1 p.Ile170Val Uncertain significance Single submitter
- CPN1 p.Ile201Leu Uncertain significance Single submitter
- CPN1 p.Ile384Val Uncertain significance Single submitter
- CPN1 p.Leu254Val Uncertain significance Single submitter
- CPN1 p.Lys80Glu Uncertain significance Single submitter
- CPN1 p.Met85Lys Uncertain significance Single submitter
- CPN1 p.Phe251Leu Uncertain significance Single submitter
- CPN1 p.Ser100Leu Uncertain significance Single submitter
- CPN1 p.Ser212Leu Uncertain significance Single submitter
- CPN1 p.Thr121Arg Uncertain significance Single submitter
- CPN1 p.Thr168Ile Uncertain significance Single submitter
- CPN1 p.Thr306Met Uncertain significance Single submitter
- CPN1 p.Thr34Met Uncertain significance Single submitter
- CPN1 p.Thr409Met Uncertain significance Single submitter
- CPN1 p.Val115Ile Uncertain significance Single submitter
- CPN1 p.Val149Ala Uncertain significance Single submitter
- CPN1 p.Val368Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CPN1 p.Arg24Pro Uncertain significance Single submitter
- CPN1 p.Arg328Trp Uncertain significance Single submitter
- CPN1 p.Glu317Lys Uncertain significance Single submitter
- CPN1 p.Gly57Ala Uncertain significance Single submitter
- CPN1 p.Lys256Asn Uncertain significance Single submitter
- CPN1 p.Met129Val Uncertain significance Single submitter
- CPN1 p.Pro195Ser Uncertain significance Single submitter
- CPN1 p.Ser418Gly Uncertain significance Single submitter
- CPN1 p.Thr280Ile Uncertain significance Single submitter
All CPN1 variants
Pathogenic 1
- p.His59fs No assertion criteria carboxypeptidase N deficiency
Likely pathogenic 1
- p.Thr245Met Single submitter carboxypeptidase N deficiency
Benign 5
- p.Gly178Asp Multiple submitters carboxypeptidase N deficiency
- p.Lys249= Multiple submitters
- p.Arg108= No assertion criteria CPN1-related disorder
- p.His433= No assertion criteria CPN1-related disorder
- p.Leu250= No assertion criteria CPN1-related disorder
Likely benign 5
- p.Ala90Val Single submitter
- p.Arg202Gln Single submitter
- p.Asp312Asn Single submitter
- p.Pro74Leu Single submitter
- p.Ser430Asn Single submitter
Uncertain significance 52
- p.Ala137Ser Single submitter ⚠
- p.Ala428Ser Single submitter ⚠
- p.Ala443Thr Single submitter ⚠
- p.Arg108Trp Single submitter ⚠
- p.Arg122Pro Single submitter ⚠
- p.Arg233Pro Single submitter ⚠
- p.Arg24Pro Single submitter ⚠
- p.Arg328Trp Single submitter ⚠
- p.Arg378Gln Single submitter ⚠
- p.Arg93Cys Single submitter ⚠
- p.Asn152Asp Single submitter ⚠
- p.Asn162Ser Single submitter
- p.Asn214Ser Single submitter ⚠
- p.Asn223Ser Single submitter ⚠
- p.Asn352Ser Single submitter ⚠
- p.Asp158His Single submitter ⚠
- p.Asp187Gly Single submitter ⚠
- p.Asp294Glu Single submitter ⚠
- p.Asp30Glu Single submitter ⚠
- p.Glu317Lys Single submitter ⚠
- p.Glu78Lys Single submitter ⚠
- p.Gly326Ser Single submitter ⚠
- p.Gly57Ala Single submitter ⚠
- p.His182Tyr Single submitter ⚠
- p.His25Tyr Single submitter ⚠
- p.His26Arg Single submitter ⚠
- p.His373Tyr Single submitter ⚠
- p.His59Asn Single submitter ⚠
- p.His86Asp Single submitter ⚠
- p.Ile123Val Single submitter ⚠
- p.Ile170Val Single submitter ⚠
- p.Ile201Leu Single submitter ⚠
- p.Ile384Val Single submitter ⚠
- p.Leu254Val Single submitter ⚠
- p.Lys256Asn Single submitter ⚠
- p.Lys80Glu Single submitter ⚠
- p.Met129Val Single submitter ⚠
- p.Met85Lys Single submitter ⚠
- p.Phe251Leu Single submitter ⚠
- p.Pro195Ser Single submitter ⚠
- p.Ser100Leu Single submitter ⚠
- p.Ser212Leu Single submitter ⚠
- p.Ser418Gly Single submitter ⚠
- p.Thr121Arg Single submitter ⚠
- p.Thr168Ile Single submitter ⚠
- p.Thr280Ile Single submitter ⚠
- p.Thr306Met Single submitter ⚠
- p.Thr34Met Single submitter ⚠
- p.Thr409Met Single submitter ⚠
- p.Val115Ile Single submitter ⚠
- p.Val149Ala Single submitter ⚠
- p.Val368Ile Single submitter ⚠