CNPY2 — 31 ClinVar variants
All ClinVar germline CNPY2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Likely pathogenic · 1 Likely benign · 29 Uncertain significance
Full CNPY2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CNPY2 p.Ala156Val Uncertain significance Single submitter
- CNPY2 p.Ala174Thr Uncertain significance Single submitter
- CNPY2 p.Arg124Gln Uncertain significance Single submitter
- CNPY2 p.Arg154Gln Uncertain significance Single submitter
- CNPY2 p.Arg32Gly Uncertain significance Single submitter
- CNPY2 p.Asp126Asn Uncertain significance Single submitter
- CNPY2 p.Asp180Gly Uncertain significance Single submitter
- CNPY2 p.Cys137Arg Uncertain significance Single submitter
- CNPY2 p.Ile177Val Uncertain significance Single submitter
- CNPY2 p.Ile51Thr Uncertain significance Single submitter
- CNPY2 p.Leu133Phe Uncertain significance Single submitter
- CNPY2 p.Thr17Ser Uncertain significance Single submitter
- CNPY2 p.Trp19Arg Uncertain significance Single submitter
- CNPY2 p.Trp40Ser Uncertain significance Single submitter
- CNPY2 p.Trp6Arg Uncertain significance Single submitter
- CNPY2 p.Val159Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CNPY2 p.Ala18Ser Uncertain significance Single submitter
- CNPY2 p.Ala76Asp Uncertain significance Single submitter
- CNPY2 p.Arg107His Uncertain significance Single submitter
- CNPY2 p.Arg111Gln Uncertain significance Single submitter
- CNPY2 p.Arg21Trp Uncertain significance Single submitter
- CNPY2 p.Asn158Ser Uncertain significance Single submitter
- CNPY2 p.Asp128Ala Uncertain significance Single submitter
- CNPY2 p.Gln52Arg Uncertain significance Single submitter
- CNPY2 p.His77Tyr Uncertain significance Single submitter
- CNPY2 p.Ile123Thr Uncertain significance Single submitter
- CNPY2 p.Ile85Met Uncertain significance Single submitter
- CNPY2 p.Ser178Leu Uncertain significance Single submitter
- CNPY2 p.Ser65Leu Uncertain significance Single submitter
All CNPY2 variants
Likely pathogenic 1
- p.Gly16fs Single submitter Abnormality of the face
Likely benign 1
- p.Ile125= Single submitter
Uncertain significance 29
- p.Ala156Val Single submitter ⚠
- p.Ala174Thr Single submitter ⚠
- p.Ala18Ser Single submitter ⚠
- p.Ala76Asp Single submitter ⚠
- p.Arg107His Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg124Gln Single submitter ⚠
- p.Arg154Gln Single submitter ⚠
- p.Arg21Trp Single submitter ⚠
- p.Arg32Gly Single submitter ⚠
- p.Asn158Ser Single submitter ⚠
- p.Asp126Asn Single submitter ⚠
- p.Asp128Ala Single submitter ⚠
- p.Asp180Gly Single submitter ⚠
- p.Cys137Arg Single submitter ⚠
- p.Gln52Arg Single submitter ⚠
- p.His77Tyr Single submitter ⚠
- p.Ile123Thr Single submitter ⚠
- p.Ile177Val Single submitter ⚠
- p.Ile51Thr Single submitter ⚠
- p.Ile85Met Single submitter ⚠
- p.Leu133Phe Single submitter ⚠
- p.Ser178Leu Single submitter ⚠
- p.Ser65Leu Single submitter ⚠
- p.Thr17Ser Single submitter ⚠
- p.Trp19Arg Single submitter ⚠
- p.Trp40Ser Single submitter ⚠
- p.Trp6Arg Single submitter ⚠
- p.Val159Ile Single submitter ⚠