CPNE6 — 54 ClinVar variants
All ClinVar germline CPNE6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
2 Likely benign · 52 Uncertain significance
Full CPNE6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPNE6 p.Ala543Thr Uncertain significance Single submitter
- CPNE6 p.Ala543Val Uncertain significance Single submitter
- CPNE6 p.Arg270Gln Uncertain significance Single submitter
- CPNE6 p.Arg332Gln Uncertain significance Single submitter
- CPNE6 p.Arg332Gly Uncertain significance Single submitter
- CPNE6 p.Arg332Pro Uncertain significance Single submitter
- CPNE6 p.Arg356Gln Uncertain significance Single submitter
- CPNE6 p.Arg399His Uncertain significance Single submitter
- CPNE6 p.Arg458His Uncertain significance Single submitter
- CPNE6 p.Arg480Gln Uncertain significance Single submitter
- CPNE6 p.Arg490Cys Uncertain significance Single submitter
- CPNE6 p.Arg490His Uncertain significance Single submitter
- CPNE6 p.Arg528Gln Uncertain significance Single submitter
- CPNE6 p.Asn255Lys Uncertain significance Single submitter
- CPNE6 p.Asn369Ser Uncertain significance Single submitter
- CPNE6 p.Asp104Val Uncertain significance Single submitter
- CPNE6 p.Asp152Glu Uncertain significance Single submitter
- CPNE6 p.Asp187Tyr Uncertain significance Single submitter
- CPNE6 p.Asp381Glu Uncertain significance Single submitter
- CPNE6 p.Cys112Tyr Uncertain significance Single submitter
- CPNE6 p.Glu371Lys Uncertain significance Single submitter
- CPNE6 p.Glu95Lys Uncertain significance Single submitter
- CPNE6 p.Gly408Ser Uncertain significance Single submitter
- CPNE6 p.Gly444Ser Uncertain significance Single submitter
- CPNE6 p.Gly7Arg Uncertain significance Single submitter
- CPNE6 p.His293Tyr Uncertain significance Single submitter
- CPNE6 p.His90Gln Uncertain significance Single submitter
- CPNE6 p.Leu63Ile Uncertain significance Single submitter
- CPNE6 p.Met15Val Uncertain significance Single submitter
- CPNE6 p.Phe507Val Uncertain significance Single submitter
- CPNE6 p.Pro382Leu Uncertain significance Single submitter
- CPNE6 p.Pro546Ser Uncertain significance Single submitter
- CPNE6 p.Ser203Arg Uncertain significance Single submitter
- CPNE6 p.Thr253Met Uncertain significance Single submitter
- CPNE6 p.Thr288Met Uncertain significance Single submitter
- CPNE6 p.Thr288Ser Uncertain significance Single submitter
- CPNE6 p.Thr38Ile Uncertain significance Single submitter
- CPNE6 p.Thr551Met Uncertain significance Single submitter
- CPNE6 p.Val44Met Uncertain significance Single submitter
- CPNE6 p.Val495Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CPNE6 p.Ala519Thr Uncertain significance Single submitter
- CPNE6 p.Arg270Trp Uncertain significance Single submitter
- CPNE6 p.Arg425Gly Uncertain significance Single submitter
- CPNE6 p.Asn317Ser Uncertain significance Single submitter
- CPNE6 p.Glu386Gln Uncertain significance Single submitter
- CPNE6 p.Gly240Ser Uncertain significance Single submitter
- CPNE6 p.Gly430Ser Uncertain significance Single submitter
- CPNE6 p.Pro320Thr Uncertain significance Single submitter
- CPNE6 p.Thr281Met Uncertain significance Single submitter
- CPNE6 p.Thr308Met Uncertain significance Single submitter
- CPNE6 p.Val57Ala Uncertain significance Single submitter
All CPNE6 variants
Likely benign 2
- p.Arg528= Single submitter
- p.Thr454Ala Single submitter
Uncertain significance 52
- p.Ala519Thr Single submitter ⚠
- p.Ala543Thr Single submitter ⚠
- p.Ala543Val Single submitter ⚠
- p.Arg270Gln Single submitter ⚠
- p.Arg270Trp Single submitter ⚠
- p.Arg332Gln Single submitter ⚠
- p.Arg332Gly Single submitter ⚠
- p.Arg332Pro Single submitter ⚠
- p.Arg356Gln Single submitter ⚠
- p.Arg399His Single submitter ⚠
- p.Arg425Gly Single submitter ⚠
- p.Arg458His Single submitter ⚠
- p.Arg480Gln Single submitter ⚠
- p.Arg490Cys Single submitter ⚠
- p.Arg490His Single submitter ⚠
- p.Arg528Gln Single submitter ⚠
- p.Asn255Lys Single submitter ⚠
- p.Asn317Ser Single submitter ⚠
- p.Asn369Ser Single submitter ⚠
- p.Asp104Val Single submitter ⚠
- p.Asp152Glu Single submitter ⚠
- p.Asp187Tyr Single submitter ⚠
- p.Asp381Glu Single submitter ⚠
- p.Cys112Tyr Single submitter ⚠
- p.Glu241Lys Single submitter
- p.Glu371Lys Single submitter ⚠
- p.Glu386Gln Single submitter ⚠
- p.Glu95Lys Single submitter ⚠
- p.Gly240Ser Single submitter ⚠
- p.Gly408Ser Single submitter ⚠
- p.Gly430Ser Single submitter ⚠
- p.Gly444Ser Single submitter ⚠
- p.Gly7Arg Single submitter ⚠
- p.His293Tyr Single submitter ⚠
- p.His90Gln Single submitter ⚠
- p.Leu63Ile Single submitter ⚠
- p.Met15Val Single submitter ⚠
- p.Phe507Val Single submitter ⚠
- p.Pro320Thr Single submitter ⚠
- p.Pro382Leu Single submitter ⚠
- p.Pro546Ser Single submitter ⚠
- p.Ser203Arg Single submitter ⚠
- p.Thr253Met Single submitter ⚠
- p.Thr281Met Single submitter ⚠
- p.Thr288Met Single submitter ⚠
- p.Thr288Ser Single submitter ⚠
- p.Thr308Met Single submitter ⚠
- p.Thr38Ile Single submitter ⚠
- p.Thr551Met Single submitter ⚠
- p.Val44Met Single submitter ⚠
- p.Val495Met Single submitter ⚠
- p.Val57Ala Single submitter ⚠