CNPPD1 — 75 ClinVar variants
All ClinVar germline CNPPD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
6 Likely benign · 69 Uncertain significance
Full CNPPD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CNPPD1 p.Ala150Val Uncertain significance Single submitter
- CNPPD1 p.Ala161Val Uncertain significance Single submitter
- CNPPD1 p.Ala248Thr Uncertain significance Single submitter
- CNPPD1 p.Ala293Thr Uncertain significance Single submitter
- CNPPD1 p.Ala351Thr Uncertain significance Single submitter
- CNPPD1 p.Ala47Val Uncertain significance Single submitter
- CNPPD1 p.Arg227Trp Uncertain significance Single submitter
- CNPPD1 p.Arg275Cys Uncertain significance Single submitter
- CNPPD1 p.Arg306Gln Uncertain significance Single submitter
- CNPPD1 p.Arg357Cys Uncertain significance Single submitter
- CNPPD1 p.Arg402His Uncertain significance Single submitter
- CNPPD1 p.Asn160Asp Uncertain significance Single submitter
- CNPPD1 p.Asp136Glu Uncertain significance Single submitter
- CNPPD1 p.Asp171His Uncertain significance Single submitter
- CNPPD1 p.Gln20Arg Uncertain significance Single submitter
- CNPPD1 p.Gly138Arg Uncertain significance Single submitter
- CNPPD1 p.Gly5Arg Uncertain significance Single submitter
- CNPPD1 p.His354Gln Uncertain significance Single submitter
- CNPPD1 p.Ile125Val Uncertain significance Single submitter
- CNPPD1 p.Ile74Val Uncertain significance Single submitter
- CNPPD1 p.Leu219Ser Uncertain significance Single submitter
- CNPPD1 p.Leu25Phe Uncertain significance Single submitter
- CNPPD1 p.Leu289Pro Uncertain significance Single submitter
- CNPPD1 p.Leu313Pro Uncertain significance Single submitter
- CNPPD1 p.Leu373Gln Uncertain significance Single submitter
- CNPPD1 p.Leu400Pro Uncertain significance Single submitter
- CNPPD1 p.Met303Leu Uncertain significance Single submitter
- CNPPD1 p.Met96Val Uncertain significance Single submitter
- CNPPD1 p.Pro265Leu Uncertain significance Single submitter
- CNPPD1 p.Pro267Leu Uncertain significance Single submitter
- CNPPD1 p.Pro322Leu Uncertain significance Single submitter
- CNPPD1 p.Pro375His Uncertain significance Single submitter
- CNPPD1 p.Ser119Phe Uncertain significance Single submitter
- CNPPD1 p.Ser50Arg Uncertain significance Single submitter
- CNPPD1 p.Ser50Ile Uncertain significance Single submitter
- CNPPD1 p.Thr206Ile Uncertain significance Single submitter
- CNPPD1 p.Thr331Ala Uncertain significance Single submitter
- CNPPD1 p.Thr348Ala Uncertain significance Single submitter
- CNPPD1 p.Thr361Pro Uncertain significance Single submitter
- CNPPD1 p.Tyr371Cys Uncertain significance Single submitter
- CNPPD1 p.Val184Met Uncertain significance Single submitter
- CNPPD1 p.Val252Ile Uncertain significance Single submitter
- CNPPD1 p.Val359Ile Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- CNPPD1 p.Ala155Thr Uncertain significance Single submitter
- CNPPD1 p.Ala236Val Uncertain significance Single submitter
- CNPPD1 p.Ala246Val Uncertain significance Single submitter
- CNPPD1 p.Arg179Gln Uncertain significance Single submitter
- CNPPD1 p.Arg179Trp Uncertain significance Single submitter
- CNPPD1 p.Arg198Gln Likely benign Single submitter
- CNPPD1 p.Arg198Trp Uncertain significance Single submitter
- CNPPD1 p.Arg87Trp Uncertain significance Single submitter
- CNPPD1 p.Asp146Asn Uncertain significance Single submitter
- CNPPD1 p.Glu64Gln Uncertain significance Single submitter
- CNPPD1 p.His84Arg Uncertain significance Single submitter
- CNPPD1 p.Leu316Gln Uncertain significance Single submitter
- CNPPD1 p.Leu316Met Uncertain significance Single submitter
- CNPPD1 p.Leu386Phe Uncertain significance Single submitter
- CNPPD1 p.Lys68Glu Uncertain significance Single submitter
- CNPPD1 p.Lys79Asn Uncertain significance Single submitter
- CNPPD1 p.Pro215Leu Uncertain significance Single submitter
- CNPPD1 p.Pro324Arg Uncertain significance Single submitter
- CNPPD1 p.Ser120Cys Uncertain significance Single submitter
- CNPPD1 p.Ser168Arg Uncertain significance Single submitter
- CNPPD1 p.Ser249Leu Uncertain significance Single submitter
- CNPPD1 p.Ser291Phe Uncertain significance Single submitter
- CNPPD1 p.Ser307Thr Uncertain significance Single submitter
- CNPPD1 p.Ser50Asn Uncertain significance Single submitter
- CNPPD1 p.Ser72Asn Uncertain significance Single submitter
- CNPPD1 p.Tyr40Cys Uncertain significance Single submitter
- CNPPD1 p.Val295Asp Uncertain significance Single submitter
- CNPPD1 p.Val382Met Likely benign Single submitter
All CNPPD1 variants
Likely benign 6
- p.Arg198Gln Single submitter ⚠
- p.Arg275His Single submitter
- p.Arg357His Single submitter
- p.His350Arg Single submitter
- p.Val382Met Single submitter ⚠
- p.Val407Ile Single submitter
Uncertain significance 69
- p.Ala150Val Single submitter ⚠
- p.Ala155Thr Single submitter ⚠
- p.Ala161Val Single submitter ⚠
- p.Ala236Val Single submitter ⚠
- p.Ala246Val Single submitter ⚠
- p.Ala248Thr Single submitter ⚠
- p.Ala293Thr Single submitter ⚠
- p.Ala351Thr Single submitter ⚠
- p.Ala47Val Single submitter ⚠
- p.Arg179Gln Single submitter ⚠
- p.Arg179Trp Single submitter ⚠
- p.Arg198Trp Single submitter ⚠
- p.Arg227Trp Single submitter ⚠
- p.Arg275Cys Single submitter ⚠
- p.Arg306Gln Single submitter ⚠
- p.Arg357Cys Single submitter ⚠
- p.Arg402His Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Asn160Asp Single submitter ⚠
- p.Asp136Glu Single submitter ⚠
- p.Asp146Asn Single submitter ⚠
- p.Asp171His Single submitter ⚠
- p.Gln20Arg Single submitter ⚠
- p.Glu64Gln Single submitter ⚠
- p.Gly138Arg Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.His354Gln Single submitter ⚠
- p.His84Arg Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Ile74Val Single submitter ⚠
- p.Leu219Ser Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Leu289Pro Single submitter ⚠
- p.Leu313Pro Single submitter ⚠
- p.Leu316Gln Single submitter ⚠
- p.Leu316Met Single submitter ⚠
- p.Leu373Gln Single submitter ⚠
- p.Leu386Phe Single submitter ⚠
- p.Leu400Pro Single submitter ⚠
- p.Lys68Glu Single submitter ⚠
- p.Lys79Asn Single submitter ⚠
- p.Met303Leu Single submitter ⚠
- p.Met96Val Single submitter ⚠
- p.Pro215Leu Single submitter ⚠
- p.Pro265Leu Single submitter ⚠
- p.Pro267Leu Single submitter ⚠
- p.Pro322Leu Single submitter ⚠
- p.Pro324Arg Single submitter ⚠
- p.Pro375His Single submitter ⚠
- p.Ser119Phe Single submitter ⚠
- p.Ser120Cys Single submitter ⚠
- p.Ser168Arg Single submitter ⚠
- p.Ser249Leu Single submitter ⚠
- p.Ser291Phe Single submitter ⚠
- p.Ser307Thr Single submitter ⚠
- p.Ser50Arg Single submitter ⚠
- p.Ser50Asn Single submitter ⚠
- p.Ser50Ile Single submitter ⚠
- p.Ser72Asn Single submitter ⚠
- p.Thr206Ile Single submitter ⚠
- p.Thr331Ala Single submitter ⚠
- p.Thr348Ala Single submitter ⚠
- p.Thr361Pro Single submitter ⚠
- p.Tyr371Cys Single submitter ⚠
- p.Tyr40Cys Single submitter ⚠
- p.Val184Met Single submitter ⚠
- p.Val252Ile Single submitter ⚠
- p.Val295Asp Single submitter ⚠
- p.Val359Ile Single submitter ⚠