CNPY1 — 11 ClinVar variants
All ClinVar germline CNPY1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
11 Uncertain significance
Full CNPY1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CNPY1 p.Glu107Lys Uncertain significance Single submitter
- CNPY1 p.Glu108Lys Uncertain significance Single submitter
- CNPY1 p.Glu60Gln Uncertain significance Single submitter
- CNPY1 p.Ile81Met Uncertain significance Single submitter
- CNPY1 p.Lys86Glu Uncertain significance Single submitter
- CNPY1 p.Pro63Ala Uncertain significance Single submitter
- CNPY1 p.Tyr95His Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All CNPY1 variants
Uncertain significance 11
- p.Cys129Ser Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu108Lys Single submitter ⚠
- p.Glu60Gln Single submitter ⚠
- p.Ile81Met Single submitter ⚠
- p.Lys86Glu Single submitter ⚠
- p.Pro63Ala Single submitter ⚠
- p.Ser115Pro Single submitter ⚠
- p.Thr65Met Single submitter ⚠
- p.Tyr57Cys Single submitter
- p.Tyr95His Single submitter ⚠