CPNE4 — 42 ClinVar variants
All ClinVar germline CPNE4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Likely benign · 41 Uncertain significance
Full CPNE4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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.
- CPNE4 p.Ala11Thr Uncertain significance Single submitter
- CPNE4 p.Arg225Gly Uncertain significance Single submitter
- CPNE4 p.Arg68His Uncertain significance Single submitter
- CPNE4 p.Asn153Ser Uncertain significance Single submitter
- CPNE4 p.Asn162Ser Uncertain significance Single submitter
- CPNE4 p.Asp487Glu Uncertain significance Single submitter
- CPNE4 p.Gln418Arg Uncertain significance Single submitter
- CPNE4 p.Glu107Lys Uncertain significance Single submitter
- CPNE4 p.Glu496Gln Uncertain significance Single submitter
- CPNE4 p.Gly139Glu Uncertain significance Single submitter
- CPNE4 p.Gly220Arg Uncertain significance Single submitter
- CPNE4 p.His102Arg Uncertain significance Single submitter
- CPNE4 p.Ile71Val Uncertain significance Single submitter
- CPNE4 p.Ile98Val Uncertain significance Single submitter
- CPNE4 p.Leu111Phe Uncertain significance Single submitter
- CPNE4 p.Lys2Arg Uncertain significance Single submitter
- CPNE4 p.Lys3Met Uncertain significance Single submitter
- CPNE4 p.Lys3Thr Uncertain significance Single submitter
- CPNE4 p.Met548Leu Uncertain significance Single submitter
- CPNE4 p.Phe210Leu Uncertain significance Single submitter
- CPNE4 p.Pro332Ala Uncertain significance Single submitter
- CPNE4 p.Pro557Leu Uncertain significance Single submitter
- CPNE4 p.Pro73Ser Uncertain significance Single submitter
- CPNE4 p.Ser20Asn Uncertain significance Single submitter
- CPNE4 p.Ser400Asn Uncertain significance Single submitter
- CPNE4 p.Ser522Asn Uncertain significance Single submitter
- CPNE4 p.Thr24Ser Uncertain significance Single submitter
- CPNE4 p.Val214Ile Uncertain significance Single submitter
- CPNE4 p.Val230Leu Uncertain significance Single submitter
- CPNE4 p.Val420Ile Uncertain significance Single submitter
- CPNE4 p.Val470Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CPNE4 p.Arg90His Uncertain significance Single submitter
- CPNE4 p.Arg92Gln Uncertain significance Single submitter
- CPNE4 p.Asp109Asn Uncertain significance Single submitter
- CPNE4 p.Gln262Arg Uncertain significance Single submitter
- CPNE4 p.Gly258Arg Uncertain significance Single submitter
- CPNE4 p.Gly537Asp Uncertain significance Single submitter
- CPNE4 p.Ile98Ser Uncertain significance Single submitter
- CPNE4 p.Lys521Asn Uncertain significance Single submitter
- CPNE4 p.Met4Ile Uncertain significance Single submitter
- CPNE4 p.Thr80Ala Uncertain significance Single submitter
All CPNE4 variants
Likely benign 1
- p.Ala424= Single submitter
Uncertain significance 41
- p.Ala11Thr Single submitter ⚠
- p.Arg225Gly Single submitter ⚠
- p.Arg68His Single submitter ⚠
- p.Arg90His Single submitter ⚠
- p.Arg92Gln Single submitter ⚠
- p.Asn153Ser Single submitter ⚠
- p.Asn162Ser Single submitter ⚠
- p.Asp109Asn Single submitter ⚠
- p.Asp487Glu Single submitter ⚠
- p.Gln262Arg Single submitter ⚠
- p.Gln418Arg Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu496Gln Single submitter ⚠
- p.Gly139Glu Single submitter ⚠
- p.Gly220Arg Single submitter ⚠
- p.Gly258Arg Single submitter ⚠
- p.Gly537Asp Single submitter ⚠
- p.His102Arg Single submitter ⚠
- p.Ile71Val Single submitter ⚠
- p.Ile98Ser Single submitter ⚠
- p.Ile98Val Single submitter ⚠
- p.Leu111Phe Single submitter ⚠
- p.Lys2Arg Single submitter ⚠
- p.Lys3Met Single submitter ⚠
- p.Lys3Thr Single submitter ⚠
- p.Lys521Asn Single submitter ⚠
- p.Met4Ile Single submitter ⚠
- p.Met548Leu Single submitter ⚠
- p.Phe210Leu Single submitter ⚠
- p.Pro332Ala Single submitter ⚠
- p.Pro557Leu Single submitter ⚠
- p.Pro73Ser Single submitter ⚠
- p.Ser20Asn Single submitter ⚠
- p.Ser400Asn Single submitter ⚠
- p.Ser522Asn Single submitter ⚠
- p.Thr24Ser Single submitter ⚠
- p.Thr80Ala Single submitter ⚠
- p.Val214Ile Single submitter ⚠
- p.Val230Leu Single submitter ⚠
- p.Val420Ile Single submitter ⚠
- p.Val470Met Single submitter ⚠