CPNE2 — 80 ClinVar variants
All ClinVar germline CPNE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
2 Likely benign · 78 Uncertain significance
Full CPNE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPNE2 p.Ala147Thr Uncertain significance Single submitter
- CPNE2 p.Ala475Gly Uncertain significance Single submitter
- CPNE2 p.Ala475Val Uncertain significance Single submitter
- CPNE2 p.Ala478Thr Uncertain significance Single submitter
- CPNE2 p.Ala548Thr Uncertain significance Single submitter
- CPNE2 p.Arg256Gln Uncertain significance Single submitter
- CPNE2 p.Arg292Gln Uncertain significance Single submitter
- CPNE2 p.Arg488His Uncertain significance Single submitter
- CPNE2 p.Asn154Ser Uncertain significance Single submitter
- CPNE2 p.Asn235Ser Uncertain significance Single submitter
- CPNE2 p.Asn54Asp Uncertain significance Single submitter
- CPNE2 p.Asn54Thr Uncertain significance Single submitter
- CPNE2 p.Asp136Glu Uncertain significance Single submitter
- CPNE2 p.Asp293Ala Uncertain significance Single submitter
- CPNE2 p.Asp82Glu Uncertain significance Single submitter
- CPNE2 p.Cys116Tyr Uncertain significance Single submitter
- CPNE2 p.Cys22Tyr Uncertain significance Single submitter
- CPNE2 p.Glu107Lys Uncertain significance Single submitter
- CPNE2 p.Glu254Lys Uncertain significance Single submitter
- CPNE2 p.Glu376Lys Uncertain significance Single submitter
- CPNE2 p.Glu65Asp Uncertain significance Single submitter
- CPNE2 p.Gly237Arg Uncertain significance Single submitter
- CPNE2 p.Gly243Ser Uncertain significance Single submitter
- CPNE2 p.Gly471Asp Uncertain significance Single submitter
- CPNE2 p.Gly8Val Uncertain significance Single submitter
- CPNE2 p.Ile405Val Uncertain significance Single submitter
- CPNE2 p.Ile59Leu Uncertain significance Single submitter
- CPNE2 p.Leu71Pro Uncertain significance Single submitter
- CPNE2 p.Lys462Arg Uncertain significance Single submitter
- CPNE2 p.Met333Val Uncertain significance Single submitter
- CPNE2 p.Pro16Leu Uncertain significance Single submitter
- CPNE2 p.Pro321Leu Uncertain significance Single submitter
- CPNE2 p.Pro368Leu Uncertain significance Single submitter
- CPNE2 p.Pro507Thr Uncertain significance Single submitter
- CPNE2 p.Ser124Gly Uncertain significance Single submitter
- CPNE2 p.Ser175Leu Uncertain significance Single submitter
- CPNE2 p.Ser295Phe Uncertain significance Single submitter
- CPNE2 p.Ser448Gly Uncertain significance Single submitter
- CPNE2 p.Thr443Met Uncertain significance Single submitter
- CPNE2 p.Val156Ile Uncertain significance Single submitter
- CPNE2 p.Val193Ile Uncertain significance Single submitter
- CPNE2 p.Val417Ile Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- CPNE2 p.Ala12Val Uncertain significance Single submitter
- CPNE2 p.Ala14Glu Uncertain significance Single submitter
- CPNE2 p.Ala378Val Uncertain significance Single submitter
- CPNE2 p.Ala94Thr Uncertain significance Single submitter
- CPNE2 p.Arg104Trp Uncertain significance Single submitter
- CPNE2 p.Arg256Gly Uncertain significance Single submitter
- CPNE2 p.Arg422Gln Uncertain significance Single submitter
- CPNE2 p.Arg509Gln Uncertain significance Single submitter
- CPNE2 p.Arg512His Uncertain significance Single submitter
- CPNE2 p.Asn320Asp Uncertain significance Single submitter
- CPNE2 p.Asp153Asn Uncertain significance Single submitter
- CPNE2 p.Asp323Asn Uncertain significance Single submitter
- CPNE2 p.Asp62Asn Uncertain significance Single submitter
- CPNE2 p.Cys24Tyr Uncertain significance Single submitter
- CPNE2 p.Gln305Arg Uncertain significance Single submitter
- CPNE2 p.Gln426Arg Uncertain significance Single submitter
- CPNE2 p.Glu244Lys Uncertain significance Single submitter
- CPNE2 p.Glu264Lys Uncertain significance Single submitter
- CPNE2 p.Gly220Arg Uncertain significance Single submitter
- CPNE2 p.His194Arg Uncertain significance Single submitter
- CPNE2 p.Ile394Val Uncertain significance Single submitter
- CPNE2 p.Leu159Ile Uncertain significance Single submitter
- CPNE2 p.Leu192Gln Uncertain significance Single submitter
- CPNE2 p.Lys126Thr Uncertain significance Single submitter
- CPNE2 p.Lys462Gln Uncertain significance Single submitter
- CPNE2 p.Lys521Glu Uncertain significance Single submitter
- CPNE2 p.Phe263Leu Uncertain significance Single submitter
- CPNE2 p.Phe407Val Uncertain significance Single submitter
- CPNE2 p.Pro260Leu Uncertain significance Single submitter
- CPNE2 p.Pro332Arg Uncertain significance Single submitter
- CPNE2 p.Thr145Met Uncertain significance Single submitter
- CPNE2 p.Thr52Ala Uncertain significance Single submitter
- CPNE2 p.Trp190Gly Uncertain significance Single submitter
- CPNE2 p.Tyr233Cys Uncertain significance Single submitter
- CPNE2 p.Val40Ala Uncertain significance Single submitter
- CPNE2 p.Val417Leu Uncertain significance Single submitter
All CPNE2 variants
Likely benign 2
- p.Arg165Lys Single submitter
- p.Ile68Val Single submitter
Uncertain significance 78
- p.Ala12Val Single submitter ⚠
- p.Ala147Thr Single submitter ⚠
- p.Ala14Glu Single submitter ⚠
- p.Ala378Val Single submitter ⚠
- p.Ala475Gly Single submitter ⚠
- p.Ala475Val Single submitter ⚠
- p.Ala478Thr Single submitter ⚠
- p.Ala548Thr Single submitter ⚠
- p.Ala94Thr Single submitter ⚠
- p.Arg104Trp Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg256Gly Single submitter ⚠
- p.Arg292Gln Single submitter ⚠
- p.Arg422Gln Single submitter ⚠
- p.Arg488His Single submitter ⚠
- p.Arg509Gln Single submitter ⚠
- p.Arg512His Single submitter ⚠
- p.Asn154Ser Single submitter ⚠
- p.Asn235Ser Single submitter ⚠
- p.Asn320Asp Single submitter ⚠
- p.Asn54Asp Single submitter ⚠
- p.Asn54Thr Single submitter ⚠
- p.Asp136Glu Single submitter ⚠
- p.Asp153Asn Single submitter ⚠
- p.Asp293Ala Single submitter ⚠
- p.Asp323Asn Single submitter ⚠
- p.Asp62Asn Single submitter ⚠
- p.Asp82Glu Single submitter ⚠
- p.Cys116Tyr Single submitter ⚠
- p.Cys22Tyr Single submitter ⚠
- p.Cys24Tyr Single submitter ⚠
- p.Gln305Arg Single submitter ⚠
- p.Gln426Arg Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu244Lys Single submitter ⚠
- p.Glu254Lys Single submitter ⚠
- p.Glu264Lys Single submitter ⚠
- p.Glu376Lys Single submitter ⚠
- p.Glu65Asp Single submitter ⚠
- p.Gly220Arg Single submitter ⚠
- p.Gly237Arg Single submitter ⚠
- p.Gly243Ser Single submitter ⚠
- p.Gly471Asp Single submitter ⚠
- p.Gly8Val Single submitter ⚠
- p.His194Arg Single submitter ⚠
- p.Ile394Val Single submitter ⚠
- p.Ile405Val Single submitter ⚠
- p.Ile59Leu Single submitter ⚠
- p.Leu159Ile Single submitter ⚠
- p.Leu192Gln Single submitter ⚠
- p.Leu71Pro Single submitter ⚠
- p.Lys126Thr Single submitter ⚠
- p.Lys462Arg Single submitter ⚠
- p.Lys462Gln Single submitter ⚠
- p.Lys521Glu Single submitter ⚠
- p.Met333Val Single submitter ⚠
- p.Phe263Leu Single submitter ⚠
- p.Phe407Val Single submitter ⚠
- p.Pro16Leu Single submitter ⚠
- p.Pro260Leu Single submitter ⚠
- p.Pro321Leu Single submitter ⚠
- p.Pro332Arg Single submitter ⚠
- p.Pro368Leu Single submitter ⚠
- p.Pro507Thr Single submitter ⚠
- p.Ser124Gly Single submitter ⚠
- p.Ser175Leu Single submitter ⚠
- p.Ser295Phe Single submitter ⚠
- p.Ser448Gly Single submitter ⚠
- p.Thr145Met Single submitter ⚠
- p.Thr443Met Single submitter ⚠
- p.Thr52Ala Single submitter ⚠
- p.Trp190Gly Single submitter ⚠
- p.Tyr233Cys Single submitter ⚠
- p.Val156Ile Single submitter ⚠
- p.Val193Ile Single submitter ⚠
- p.Val40Ala Single submitter ⚠
- p.Val417Ile Single submitter ⚠
- p.Val417Leu Single submitter ⚠