CPNE7 — 161 ClinVar variants
All ClinVar germline CPNE7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 154 flagged for review →
7 Likely benign · 154 Uncertain significance
Full CPNE7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 154
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 86
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPNE7 c.357+1139G>A Uncertain significance Single submitter
- CPNE7 c.357+1147G>C Uncertain significance Single submitter
- CPNE7 c.357+1166A>C Uncertain significance Single submitter
- CPNE7 c.357+1181G>T Uncertain significance Single submitter
- CPNE7 c.357+1196G>C Uncertain significance Single submitter
- CPNE7 c.357+1209C>G Uncertain significance Single submitter
- CPNE7 c.357+1216C>A Uncertain significance Single submitter
- CPNE7 c.357+1219C>A Uncertain significance Single submitter
- CPNE7 c.357+1230C>T Uncertain significance Single submitter
- CPNE7 c.357+1254C>T Uncertain significance Single submitter
- CPNE7 c.357+1257G>T Uncertain significance Single submitter
- CPNE7 c.358-200C>T Uncertain significance Single submitter
- CPNE7 c.358-201A>G Uncertain significance Single submitter
- CPNE7 c.358-216G>A Uncertain significance Single submitter
- CPNE7 c.358-227C>T Uncertain significance Single submitter
- CPNE7 c.358-253G>C Uncertain significance Single submitter
- CPNE7 p.Ala18Thr Uncertain significance Single submitter
- CPNE7 p.Ala316Thr Uncertain significance Single submitter
- CPNE7 p.Ala365Ser Uncertain significance Single submitter
- CPNE7 p.Arg128Leu Uncertain significance Single submitter
- CPNE7 p.Arg236Gln Uncertain significance Single submitter
- CPNE7 p.Arg454Trp Uncertain significance Single submitter
- CPNE7 p.Arg500Gln Uncertain significance Single submitter
- CPNE7 p.Arg500Pro Uncertain significance Single submitter
- CPNE7 p.Arg500Trp Uncertain significance Single submitter
- CPNE7 p.Arg543Lys Uncertain significance Single submitter
- CPNE7 p.Asn318Ser Uncertain significance Single submitter
- CPNE7 p.Asn412Ile Uncertain significance Single submitter
- CPNE7 p.Asp168Asn Uncertain significance Single submitter
- CPNE7 p.Asp170Asn Uncertain significance Single submitter
- CPNE7 p.Asp234Gly Uncertain significance Single submitter
- CPNE7 p.Asp240Asn Uncertain significance Single submitter
- CPNE7 p.Asp298Asn Uncertain significance Single submitter
- CPNE7 p.Asp43His Uncertain significance Single submitter
- CPNE7 p.Cys115Arg Uncertain significance Single submitter
- CPNE7 p.Cys220Trp Uncertain significance Single submitter
- CPNE7 p.Cys349Arg Uncertain significance Single submitter
- CPNE7 p.Cys522Arg Uncertain significance Single submitter
- CPNE7 p.Glu250Lys Uncertain significance Single submitter
- CPNE7 p.Glu337Lys Uncertain significance Single submitter
- CPNE7 p.Glu496Val Uncertain significance Single submitter
- CPNE7 p.Glu84Lys Uncertain significance Single submitter
- CPNE7 p.Glu85Lys Uncertain significance Single submitter
- CPNE7 p.Gly112Cys Uncertain significance Single submitter
- CPNE7 p.Gly155Ser Uncertain significance Single submitter
- CPNE7 p.Gly237Glu Uncertain significance Single submitter
- CPNE7 p.Gly346Val Uncertain significance Single submitter
- CPNE7 p.Gly393Asp Uncertain significance Single submitter
- CPNE7 p.Gly393Ser Uncertain significance Single submitter
- CPNE7 p.Gly445Ser Uncertain significance Single submitter
- CPNE7 p.Gly495Cys Uncertain significance Single submitter
- CPNE7 p.Gly98Arg Uncertain significance Single submitter
- CPNE7 p.His328Tyr Uncertain significance Single submitter
- CPNE7 p.His97Arg Uncertain significance Single submitter
- CPNE7 p.Leu339Gln Uncertain significance Single submitter
- CPNE7 p.Leu89Pro Uncertain significance Single submitter
- CPNE7 p.Lys227Gln Uncertain significance Single submitter
- CPNE7 p.Lys41Met Uncertain significance Single submitter
- CPNE7 p.Met252Leu Uncertain significance Single submitter
- CPNE7 p.Met465Thr Uncertain significance Single submitter
- CPNE7 p.Pro205Leu Uncertain significance Single submitter
- CPNE7 p.Pro321Leu Uncertain significance Single submitter
- CPNE7 p.Pro321Ser Uncertain significance Single submitter
- CPNE7 p.Pro332Ser Uncertain significance Single submitter
- CPNE7 p.Pro335Leu Uncertain significance Single submitter
- CPNE7 p.Pro497Ser Uncertain significance Single submitter
- CPNE7 p.Pro528Leu Uncertain significance Single submitter
- CPNE7 p.Pro548Ser Uncertain significance Single submitter
- CPNE7 p.Pro554Arg Uncertain significance Single submitter
- CPNE7 p.Pro558Arg Uncertain significance Single submitter
- CPNE7 p.Pro99Ser Uncertain significance Single submitter
- CPNE7 p.Ser246Cys Uncertain significance Single submitter
- CPNE7 p.Ser295Phe Uncertain significance Single submitter
- CPNE7 p.Ser544Arg Uncertain significance Single submitter
- CPNE7 p.Thr196Lys Uncertain significance Single submitter
- CPNE7 p.Tyr436His Uncertain significance Single submitter
- CPNE7 p.Val157Ala Uncertain significance Single submitter
- CPNE7 p.Val345Met Uncertain significance Single submitter
- CPNE7 p.Val394Met Uncertain significance Single submitter
- CPNE7 p.Val405Ile Uncertain significance Single submitter
- CPNE7 p.Val446Met Uncertain significance Single submitter
- CPNE7 p.Val470Met Uncertain significance Single submitter
- CPNE7 p.Val506Met Uncertain significance Single submitter
- CPNE7 p.Val523Leu Uncertain significance Single submitter
- CPNE7 p.Val523Met Uncertain significance Single submitter
- CPNE7 p.Val72Ala Uncertain significance Single submitter
Predictors split 68
The independent predictors disagree with each other — read with care.
- CPNE7 c.358-218G>A Uncertain significance Single submitter
- CPNE7 p.Ala147Thr Uncertain significance Single submitter
- CPNE7 p.Ala397Thr Uncertain significance Single submitter
- CPNE7 p.Ala425Val Uncertain significance Single submitter
- CPNE7 p.Ala426Ser Uncertain significance Single submitter
- CPNE7 p.Ala433Thr Uncertain significance Single submitter
- CPNE7 p.Ala498Thr Uncertain significance Single submitter
- CPNE7 p.Ala514Val Uncertain significance Single submitter
- CPNE7 p.Arg162Gln Uncertain significance Single submitter
- CPNE7 p.Arg183Lys Uncertain significance Single submitter
- CPNE7 p.Arg275His Uncertain significance Single submitter
- CPNE7 p.Arg366Gln Uncertain significance Single submitter
- CPNE7 p.Arg422Cys Uncertain significance Single submitter
- CPNE7 p.Arg462Cys Uncertain significance Single submitter
- CPNE7 p.Arg491Cys Uncertain significance Single submitter
- CPNE7 p.Arg491His Uncertain significance Single submitter
- CPNE7 p.Asn201Ile Uncertain significance Single submitter
- CPNE7 p.Asn204Lys Uncertain significance Single submitter
- CPNE7 p.Asn380Ser Uncertain significance Single submitter
- CPNE7 p.Asn412Ser Uncertain significance Single submitter
- CPNE7 p.Asp108Asn Uncertain significance Single submitter
- CPNE7 p.Asp187Asn Uncertain significance Single submitter
- CPNE7 p.Asp355Glu Uncertain significance Single submitter
- CPNE7 p.Asp386Asn Uncertain significance Single submitter
- CPNE7 p.Asp452Asn Uncertain significance Single submitter
- CPNE7 p.Asp476Asn Uncertain significance Single submitter
- CPNE7 p.Asp479Asn Uncertain significance Single submitter
- CPNE7 p.Asp487Asn Uncertain significance Single submitter
- CPNE7 p.Asp95Asn Uncertain significance Single submitter
- CPNE7 p.Cys20Tyr Uncertain significance Single submitter
- CPNE7 p.Glu221Lys Uncertain significance Single submitter
- CPNE7 p.Glu347Lys Uncertain significance Single submitter
- CPNE7 p.Glu427Gly Uncertain significance Single submitter
- CPNE7 p.Glu427Lys Uncertain significance Single submitter
- CPNE7 p.Glu510Gln Uncertain significance Single submitter
- CPNE7 p.Gly135Ala Uncertain significance Single submitter
- CPNE7 p.Gly302Ser Uncertain significance Single submitter
- CPNE7 p.Gly431Arg Uncertain significance Single submitter
- CPNE7 p.Gly431Trp Uncertain significance Single submitter
- CPNE7 p.Gly488Ser Uncertain significance Single submitter
- CPNE7 p.His70Tyr Uncertain significance Single submitter
- CPNE7 p.Ile457Val Uncertain significance Single submitter
- CPNE7 p.Leu519Val Uncertain significance Single submitter
- CPNE7 p.Lys165Arg Uncertain significance Single submitter
- CPNE7 p.Lys278Asn Uncertain significance Single submitter
- CPNE7 p.Met450Ile Uncertain significance Single submitter
- CPNE7 p.Phe296Leu Uncertain significance Single submitter
- CPNE7 p.Pro129Leu Uncertain significance Single submitter
- CPNE7 p.Pro268Thr Uncertain significance Single submitter
- CPNE7 p.Pro403Ser Uncertain significance Single submitter
- CPNE7 p.Ser100Asn Uncertain significance Single submitter
- CPNE7 p.Ser151Leu Uncertain significance Single submitter
- CPNE7 p.Ser29Asn Uncertain significance Single submitter
- CPNE7 p.Ser344Pro Uncertain significance Single submitter
- CPNE7 p.Ser492Phe Uncertain significance Single submitter
- CPNE7 p.Ser68Thr Uncertain significance Single submitter
- CPNE7 p.Thr127Ser Uncertain significance Single submitter
- CPNE7 p.Thr247Ala Uncertain significance Single submitter
- CPNE7 p.Thr78Arg Uncertain significance Single submitter
- CPNE7 p.Tyr294Cys Uncertain significance Single submitter
- CPNE7 p.Tyr333His Uncertain significance Single submitter
- CPNE7 p.Tyr371Cys Uncertain significance Single submitter
- CPNE7 p.Val157Met Uncertain significance Single submitter
- CPNE7 p.Val283Leu Uncertain significance Single submitter
- CPNE7 p.Val395Leu Uncertain significance Single submitter
- CPNE7 p.Val472Met Uncertain significance Single submitter
- CPNE7 p.Val489Ile Uncertain significance Single submitter
- CPNE7 p.Val503Ile Uncertain significance Single submitter
All CPNE7 variants
Likely benign 7
- p.Arg322Gln Single submitter
- p.Gly101Ser Single submitter
- p.Gly546Asp Single submitter
- p.Leu226= Single submitter
- p.Lys529Arg Single submitter
- p.Ser359= Single submitter
- p.Val284Ile Single submitter
Uncertain significance 154
- c.357+1139G>A Single submitter ⚠
- c.357+1147G>C Single submitter ⚠
- c.357+1166A>C Single submitter ⚠
- c.357+1181G>T Single submitter ⚠
- c.357+1196G>C Single submitter ⚠
- c.357+1209C>G Single submitter ⚠
- c.357+1216C>A Single submitter ⚠
- c.357+1219C>A Single submitter ⚠
- c.357+1230C>T Single submitter ⚠
- c.357+1254C>T Single submitter ⚠
- c.357+1257G>T Single submitter ⚠
- c.358-200C>T Single submitter ⚠
- c.358-201A>G Single submitter ⚠
- c.358-216G>A Single submitter ⚠
- c.358-218G>A Single submitter ⚠
- c.358-227C>T Single submitter ⚠
- c.358-253G>C Single submitter ⚠
- p.Ala147Thr Single submitter ⚠
- p.Ala18Thr Single submitter ⚠
- p.Ala316Thr Single submitter ⚠
- p.Ala365Ser Single submitter ⚠
- p.Ala397Thr Single submitter ⚠
- p.Ala425Val Single submitter ⚠
- p.Ala426Ser Single submitter ⚠
- p.Ala433Thr Single submitter ⚠
- p.Ala498Thr Single submitter ⚠
- p.Ala514Val Single submitter ⚠
- p.Arg128Leu Single submitter ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg183Lys Single submitter ⚠
- p.Arg236Gln Single submitter ⚠
- p.Arg275His Single submitter ⚠
- p.Arg366Gln Single submitter ⚠
- p.Arg422Cys Single submitter ⚠
- p.Arg454Trp Single submitter ⚠
- p.Arg462Cys Single submitter ⚠
- p.Arg491Cys Single submitter ⚠
- p.Arg491His Single submitter ⚠
- p.Arg500Gln Single submitter ⚠
- p.Arg500Pro Single submitter ⚠
- p.Arg500Trp Single submitter ⚠
- p.Arg543Lys Single submitter ⚠
- p.Asn201Ile Single submitter ⚠
- p.Asn204Lys Single submitter ⚠
- p.Asn318Ser Single submitter ⚠
- p.Asn380Ser Single submitter ⚠
- p.Asn412Ile Single submitter ⚠
- p.Asn412Ser Single submitter ⚠
- p.Asp108Asn Single submitter ⚠
- p.Asp168Asn Single submitter ⚠
- p.Asp170Asn Single submitter ⚠
- p.Asp187Asn Single submitter ⚠
- p.Asp234Gly Single submitter ⚠
- p.Asp240Asn Single submitter ⚠
- p.Asp298Asn Single submitter ⚠
- p.Asp355Glu Single submitter ⚠
- p.Asp386Asn Single submitter ⚠
- p.Asp43His Single submitter ⚠
- p.Asp452Asn Single submitter ⚠
- p.Asp476Asn Single submitter ⚠
- p.Asp479Asn Single submitter ⚠
- p.Asp487Asn Single submitter ⚠
- p.Asp95Asn Single submitter ⚠
- p.Cys115Arg Single submitter ⚠
- p.Cys20Tyr Single submitter ⚠
- p.Cys220Trp Single submitter ⚠
- p.Cys349Arg Single submitter ⚠
- p.Cys522Arg Single submitter ⚠
- p.Glu221Lys Single submitter ⚠
- p.Glu250Lys Single submitter ⚠
- p.Glu337Lys Single submitter ⚠
- p.Glu347Lys Single submitter ⚠
- p.Glu427Gly Single submitter ⚠
- p.Glu427Lys Single submitter ⚠
- p.Glu496Val Single submitter ⚠
- p.Glu510Gln Single submitter ⚠
- p.Glu84Lys Single submitter ⚠
- p.Glu85Lys Single submitter ⚠
- p.Gly112Cys Single submitter ⚠
- p.Gly135Ala Single submitter ⚠
- p.Gly155Ser Single submitter ⚠
- p.Gly237Glu Single submitter ⚠
- p.Gly302Ser Single submitter ⚠
- p.Gly346Val Single submitter ⚠
- p.Gly393Asp Single submitter ⚠
- p.Gly393Ser Single submitter ⚠
- p.Gly431Arg Single submitter ⚠
- p.Gly431Trp Single submitter ⚠
- p.Gly445Ser Single submitter ⚠
- p.Gly488Ser Single submitter ⚠
- p.Gly495Cys Single submitter ⚠
- p.Gly98Arg Single submitter ⚠
- p.His328Tyr Single submitter ⚠
- p.His70Tyr Single submitter ⚠
- p.His97Arg Single submitter ⚠
- p.Ile457Val Single submitter ⚠
- p.Leu339Gln Single submitter ⚠
- p.Leu519Val Single submitter ⚠
- p.Leu89Pro Single submitter ⚠
- p.Lys165Arg Single submitter ⚠
- p.Lys227Gln Single submitter ⚠
- p.Lys278Asn Single submitter ⚠
- p.Lys41Met Single submitter ⚠
- p.Met252Leu Single submitter ⚠
- p.Met450Ile Single submitter ⚠
- p.Met465Thr Single submitter ⚠
- p.Phe296Leu Single submitter ⚠
- p.Pro129Leu Single submitter ⚠
- p.Pro205Leu Single submitter ⚠
- p.Pro268Thr Single submitter ⚠
- p.Pro321Leu Single submitter ⚠
- p.Pro321Ser Single submitter ⚠
- p.Pro332Ser Single submitter ⚠
- p.Pro335Leu Single submitter ⚠
- p.Pro403Ser Single submitter ⚠
- p.Pro497Ser Single submitter ⚠
- p.Pro528Leu Single submitter ⚠
- p.Pro548Ser Single submitter ⚠
- p.Pro554Arg Single submitter ⚠
- p.Pro558Arg Single submitter ⚠
- p.Pro99Ser Single submitter ⚠
- p.Ser100Asn Single submitter ⚠
- p.Ser151Leu Single submitter ⚠
- p.Ser246Cys Single submitter ⚠
- p.Ser295Phe Single submitter ⚠
- p.Ser29Asn Single submitter ⚠
- p.Ser344Pro Single submitter ⚠
- p.Ser492Phe Single submitter ⚠
- p.Ser544Arg Single submitter ⚠
- p.Ser68Thr Single submitter ⚠
- p.Thr127Ser Single submitter ⚠
- p.Thr196Lys Single submitter ⚠
- p.Thr247Ala Single submitter ⚠
- p.Thr78Arg Single submitter ⚠
- p.Tyr294Cys Single submitter ⚠
- p.Tyr333His Single submitter ⚠
- p.Tyr371Cys Single submitter ⚠
- p.Tyr436His Single submitter ⚠
- p.Val157Ala Single submitter ⚠
- p.Val157Met Single submitter ⚠
- p.Val283Leu Single submitter ⚠
- p.Val345Met Single submitter ⚠
- p.Val394Met Single submitter ⚠
- p.Val395Leu Single submitter ⚠
- p.Val405Ile Single submitter ⚠
- p.Val446Met Single submitter ⚠
- p.Val470Met Single submitter ⚠
- p.Val472Met Single submitter ⚠
- p.Val489Ile Single submitter ⚠
- p.Val503Ile Single submitter ⚠
- p.Val506Met Single submitter ⚠
- p.Val523Leu Single submitter ⚠
- p.Val523Met Single submitter ⚠
- p.Val72Ala Single submitter ⚠