CNPY4 — 40 ClinVar variants
All ClinVar germline CNPY4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
3 Likely benign · 37 Uncertain significance
Full CNPY4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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.
- CNPY4 p.Ala104Thr Uncertain significance Single submitter
- CNPY4 p.Ala21Thr Uncertain significance Single submitter
- CNPY4 p.Ala21Val Uncertain significance Single submitter
- CNPY4 p.Arg106His Uncertain significance Single submitter
- CNPY4 p.Arg245Gln Uncertain significance Single submitter
- CNPY4 p.Arg57Gln Uncertain significance Single submitter
- CNPY4 p.Arg96Gln Uncertain significance Single submitter
- CNPY4 p.Asp29Asn Uncertain significance Single submitter
- CNPY4 p.Cys196Ser Uncertain significance Single submitter
- CNPY4 p.Gln116Arg Uncertain significance Single submitter
- CNPY4 p.Glu220Gln Uncertain significance Single submitter
- CNPY4 p.Glu228Asp Uncertain significance Single submitter
- CNPY4 p.Glu63Lys Uncertain significance Single submitter
- CNPY4 p.Gly108Asp Uncertain significance Single submitter
- CNPY4 p.His240Tyr Uncertain significance Single submitter
- CNPY4 p.His76Gln Uncertain significance Single submitter
- CNPY4 p.Ile166Thr Uncertain significance Single submitter
- CNPY4 p.Ile8Thr Uncertain significance Single submitter
- CNPY4 p.Leu189Pro Uncertain significance Single submitter
- CNPY4 p.Leu243Pro Uncertain significance Single submitter
- CNPY4 p.Leu248Ile Uncertain significance Single submitter
- CNPY4 p.Lys107Gln Uncertain significance Single submitter
- CNPY4 p.Lys242Arg Uncertain significance Single submitter
- CNPY4 p.Pro178Leu Uncertain significance Single submitter
- CNPY4 p.Pro190Leu Uncertain significance Single submitter
- CNPY4 p.Pro3Ser Uncertain significance Single submitter
- CNPY4 p.Pro78Arg Uncertain significance Single submitter
- CNPY4 p.Thr202Asn Uncertain significance Single submitter
- CNPY4 p.Val127Ala Uncertain significance Single submitter
- CNPY4 p.Val77Met Uncertain significance Single submitter
- CNPY4 p.Val81Leu Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CNPY4 variants
Likely benign 3
- p.Asp232Glu Single submitter
- p.Gly231Glu Single submitter
- p.Leu6= Single submitter
Uncertain significance 37
- p.Ala104Thr Single submitter ⚠
- p.Ala21Thr Single submitter ⚠
- p.Ala21Val Single submitter ⚠
- p.Arg106His Single submitter ⚠
- p.Arg245Gln Single submitter ⚠
- p.Arg54Cys Single submitter ⚠
- p.Arg57Gln Single submitter ⚠
- p.Arg96Gln Single submitter ⚠
- p.Asp29Asn Single submitter ⚠
- p.Cys196Ser Single submitter ⚠
- p.Gln116Arg Single submitter ⚠
- p.Glu220Gln Single submitter ⚠
- p.Glu228Asp Single submitter ⚠
- p.Glu47Gln Single submitter ⚠
- p.Glu63Lys Single submitter ⚠
- p.Gly108Asp Single submitter ⚠
- p.Gly56Ser Single submitter ⚠
- p.His240Tyr Single submitter ⚠
- p.His76Gln Single submitter ⚠
- p.Ile166Thr Single submitter ⚠
- p.Ile8Thr Single submitter ⚠
- p.Leu189Pro Single submitter ⚠
- p.Leu243Pro Single submitter ⚠
- p.Leu248Ile Single submitter ⚠
- p.Leu48Val Single submitter
- p.Lys107Gln Single submitter ⚠
- p.Lys242Arg Single submitter ⚠
- p.Lys37Glu Single submitter ⚠
- p.Pro178Leu Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro3Ser Single submitter ⚠
- p.Pro78Arg Single submitter ⚠
- p.Thr202Asn Single submitter ⚠
- p.Val127Ala Single submitter ⚠
- p.Val77Met Single submitter ⚠
- p.Val81Leu Single submitter ⚠
- c.245+1G>C No assertion criteria autism