CPNE8 — 39 ClinVar variants
All ClinVar germline CPNE8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Likely benign · 38 Uncertain significance
Full CPNE8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPNE8 p.Ala166Val Uncertain significance Single submitter
- CPNE8 p.Arg4His Uncertain significance Single submitter
- CPNE8 p.Cys118Phe Uncertain significance Single submitter
- CPNE8 p.Cys196Phe Uncertain significance Single submitter
- CPNE8 p.Glu88Lys Uncertain significance Single submitter
- CPNE8 p.Gly12Val Uncertain significance Single submitter
- CPNE8 p.Gly54Ala Uncertain significance Single submitter
- CPNE8 p.Gly64Arg Uncertain significance Single submitter
- CPNE8 p.Ile195Val Uncertain significance Single submitter
- CPNE8 p.Ile314Val Uncertain significance Single submitter
- CPNE8 p.Leu113Val Uncertain significance Single submitter
- CPNE8 p.Leu50Ser Uncertain significance Single submitter
- CPNE8 p.Leu83Pro Uncertain significance Single submitter
- CPNE8 p.Lys168Glu Uncertain significance Single submitter
- CPNE8 p.Lys214Arg Uncertain significance Single submitter
- CPNE8 p.Met332Lys Uncertain significance Single submitter
- CPNE8 p.Met479Ile Uncertain significance Single submitter
- CPNE8 p.Pro417Ser Uncertain significance Single submitter
- CPNE8 p.Thr149Ile Uncertain significance Single submitter
- CPNE8 p.Thr205Ile Uncertain significance Single submitter
- CPNE8 p.Tyr5Cys Uncertain significance Single submitter
- CPNE8 p.Val202Asp Uncertain significance Single submitter
- CPNE8 p.Val202Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- CPNE8 p.Ala423Thr Uncertain significance Single submitter
- CPNE8 p.Arg130His Uncertain significance Single submitter
- CPNE8 p.Glu27Lys Uncertain significance Single submitter
- CPNE8 p.Lys272Arg Uncertain significance Single submitter
- CPNE8 p.Met162Ile Uncertain significance Single submitter
- CPNE8 p.Phe436Ser Uncertain significance Single submitter
- CPNE8 p.Phe63Leu Uncertain significance Single submitter
- CPNE8 p.Pro134Leu Uncertain significance Single submitter
- CPNE8 p.Pro22Leu Uncertain significance Single submitter
- CPNE8 p.Ser104Asn Uncertain significance Single submitter
- CPNE8 p.Ser403Gly Uncertain significance Single submitter
- CPNE8 p.Thr250Ala Uncertain significance Single submitter
- CPNE8 p.Tyr185Cys Uncertain significance Single submitter
- CPNE8 p.Tyr252Cys Uncertain significance Single submitter
- CPNE8 p.Val209Ala Uncertain significance Single submitter
All CPNE8 variants
Likely benign 1
- c.187-9_187-6del Single submitter
Uncertain significance 38
- p.Ala166Val Single submitter ⚠
- p.Ala423Thr Single submitter ⚠
- p.Arg130His Single submitter ⚠
- p.Arg4His Single submitter ⚠
- p.Cys118Phe Single submitter ⚠
- p.Cys196Phe Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Glu88Lys Single submitter ⚠
- p.Gly12Val Single submitter ⚠
- p.Gly54Ala Single submitter ⚠
- p.Gly64Arg Single submitter ⚠
- p.Ile195Val Single submitter ⚠
- p.Ile314Val Single submitter ⚠
- p.Leu113Val Single submitter ⚠
- p.Leu50Ser Single submitter ⚠
- p.Leu83Pro Single submitter ⚠
- p.Lys168Glu Single submitter ⚠
- p.Lys214Arg Single submitter ⚠
- p.Lys272Arg Single submitter ⚠
- p.Met162Ile Single submitter ⚠
- p.Met332Lys Single submitter ⚠
- p.Met479Ile Single submitter ⚠
- p.Phe436Ser Single submitter ⚠
- p.Phe63Leu Single submitter ⚠
- p.Pro134Leu Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Pro417Ser Single submitter ⚠
- p.Ser104Asn Single submitter ⚠
- p.Ser403Gly Single submitter ⚠
- p.Thr149Ile Single submitter ⚠
- p.Thr205Ile Single submitter ⚠
- p.Thr250Ala Single submitter ⚠
- p.Tyr185Cys Single submitter ⚠
- p.Tyr252Cys Single submitter ⚠
- p.Tyr5Cys Single submitter ⚠
- p.Val202Asp Single submitter ⚠
- p.Val202Ile Single submitter ⚠
- p.Val209Ala Single submitter ⚠