CPNE5 — 65 ClinVar variants
All ClinVar germline CPNE5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
7 Benign · 58 Uncertain significance
Full CPNE5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPNE5 p.Ala185Thr Uncertain significance Single submitter
- CPNE5 p.Ala515Asp Uncertain significance Single submitter
- CPNE5 p.Ala8Pro Uncertain significance Single submitter
- CPNE5 p.Arg257Trp Uncertain significance Single submitter
- CPNE5 p.Arg421Cys Uncertain significance Single submitter
- CPNE5 p.Arg93Cys Uncertain significance Single submitter
- CPNE5 p.Asp198Gly Uncertain significance Single submitter
- CPNE5 p.Asp243Asn Uncertain significance Single submitter
- CPNE5 p.Asp44Asn Uncertain significance Single submitter
- CPNE5 p.Asp69Asn Uncertain significance Single submitter
- CPNE5 p.Cys31Arg Uncertain significance Single submitter
- CPNE5 p.Glu5Lys Uncertain significance Single submitter
- CPNE5 p.Glu87Lys Uncertain significance Single submitter
- CPNE5 p.Ile122Val Uncertain significance Single submitter
- CPNE5 p.Ile136Leu Uncertain significance Single submitter
- CPNE5 p.Lys295Glu Uncertain significance Single submitter
- CPNE5 p.Met149Thr Uncertain significance Single submitter
- CPNE5 p.Met483Lys Uncertain significance Single submitter
- CPNE5 p.Pro148Ala Uncertain significance Single submitter
- CPNE5 p.Ser466Leu Uncertain significance Single submitter
- CPNE5 p.Ser577Leu Uncertain significance Single submitter
- CPNE5 p.Thr247Asn Uncertain significance Single submitter
- CPNE5 p.Thr583Met Uncertain significance Single submitter
- CPNE5 p.Val546Met Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- CPNE5 p.Ala469Val Uncertain significance Single submitter
- CPNE5 p.Arg129Cys Uncertain significance Single submitter
- CPNE5 p.Arg257Gln Uncertain significance Single submitter
- CPNE5 p.Arg272Gln Uncertain significance Single submitter
- CPNE5 p.Arg276His Uncertain significance Single submitter
- CPNE5 p.Arg424Cys Uncertain significance Single submitter
- CPNE5 p.Arg424His Uncertain significance Single submitter
- CPNE5 p.Arg507Trp Uncertain significance Single submitter
- CPNE5 p.Arg531His Uncertain significance Single submitter
- CPNE5 p.Arg566His Uncertain significance Single submitter
- CPNE5 p.Arg582Cys Uncertain significance Single submitter
- CPNE5 p.Arg60Trp Uncertain significance Single submitter
- CPNE5 p.Asn328Lys Uncertain significance Single submitter
- CPNE5 p.Asn328Ser Uncertain significance Single submitter
- CPNE5 p.Asn433Ser Uncertain significance Single submitter
- CPNE5 p.Asn444Lys Benign Single submitter
- CPNE5 p.Asp245Asn Uncertain significance Single submitter
- CPNE5 p.Asp496Glu Uncertain significance Single submitter
- CPNE5 p.Asp505Asn Uncertain significance Single submitter
- CPNE5 p.Gly411Ser Uncertain significance Single submitter
- CPNE5 p.Ile81Ser Uncertain significance Single submitter
- CPNE5 p.Met221Arg Uncertain significance Single submitter
- CPNE5 p.Pro158Leu Uncertain significance Single submitter
- CPNE5 p.Pro21Leu Uncertain significance Single submitter
- CPNE5 p.Pro568Leu Uncertain significance Single submitter
- CPNE5 p.Pro576Ser Uncertain significance Single submitter
- CPNE5 p.Pro588Leu Uncertain significance Single submitter
- CPNE5 p.Ser128Cys Uncertain significance Single submitter
- CPNE5 p.Ser587Tyr Uncertain significance Single submitter
- CPNE5 p.Thr145Met Uncertain significance Single submitter
- CPNE5 p.Thr180Ala Uncertain significance Single submitter
- CPNE5 p.Val456Met Uncertain significance Single submitter
- CPNE5 p.Val499Met Uncertain significance Single submitter
- CPNE5 p.Val536Gly Uncertain significance Single submitter
- CPNE5 p.Val77Met Uncertain significance Single submitter
All CPNE5 variants
Benign 7
- c.1201-9G>A Single submitter
- c.288-8C>T Single submitter
- c.405-13TC[3] Single submitter
- p.Ala586= Single submitter
- p.Asn444Lys Single submitter ⚠
- p.Glu170= Single submitter
- p.Val236= Single submitter
Uncertain significance 58
- p.Ala185Thr Single submitter ⚠
- p.Ala469Val Single submitter ⚠
- p.Ala515Asp Single submitter ⚠
- p.Ala8Pro Single submitter ⚠
- p.Arg129Cys Single submitter ⚠
- p.Arg257Gln Single submitter ⚠
- p.Arg257Trp Single submitter ⚠
- p.Arg272Gln Single submitter ⚠
- p.Arg276His Single submitter ⚠
- p.Arg421Cys Single submitter ⚠
- p.Arg424Cys Single submitter ⚠
- p.Arg424His Single submitter ⚠
- p.Arg507Trp Single submitter ⚠
- p.Arg531His Single submitter ⚠
- p.Arg566His Single submitter ⚠
- p.Arg582Cys Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg93Cys Single submitter ⚠
- p.Asn328Lys Single submitter ⚠
- p.Asn328Ser Single submitter ⚠
- p.Asn433Ser Single submitter ⚠
- p.Asp198Gly Single submitter ⚠
- p.Asp243Asn Single submitter ⚠
- p.Asp245Asn Single submitter ⚠
- p.Asp44Asn Single submitter ⚠
- p.Asp496Glu Single submitter ⚠
- p.Asp505Asn Single submitter ⚠
- p.Asp69Asn Single submitter ⚠
- p.Cys31Arg Single submitter ⚠
- p.Glu5Lys Single submitter ⚠
- p.Glu87Lys Single submitter ⚠
- p.Gly411Ser Single submitter ⚠
- p.Ile122Val Single submitter ⚠
- p.Ile136Leu Single submitter ⚠
- p.Ile81Ser Single submitter ⚠
- p.Lys295Glu Single submitter ⚠
- p.Met149Thr Single submitter ⚠
- p.Met221Arg Single submitter ⚠
- p.Met483Lys Single submitter ⚠
- p.Pro148Ala Single submitter ⚠
- p.Pro158Leu Single submitter ⚠
- p.Pro21Leu Single submitter ⚠
- p.Pro568Leu Single submitter ⚠
- p.Pro576Ser Single submitter ⚠
- p.Pro588Leu Single submitter ⚠
- p.Ser128Cys Single submitter ⚠
- p.Ser466Leu Single submitter ⚠
- p.Ser577Leu Single submitter ⚠
- p.Ser587Tyr Single submitter ⚠
- p.Thr145Met Single submitter ⚠
- p.Thr180Ala Single submitter ⚠
- p.Thr247Asn Single submitter ⚠
- p.Thr583Met Single submitter ⚠
- p.Val456Met Single submitter ⚠
- p.Val499Met Single submitter ⚠
- p.Val536Gly Single submitter ⚠
- p.Val546Met Single submitter ⚠
- p.Val77Met Single submitter ⚠