CPNE1 — 89 ClinVar variants

All ClinVar germline CPNE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

6 Likely benign · 83 Uncertain significance

Full CPNE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 72

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 44

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 28

The independent predictors disagree with each other — read with care.

All CPNE1 variants

Likely benign 6

p.Arg267Gln Single submitter
p.Arg437His Single submitter
p.Asn137Ser Single submitter
p.Leu509= Single submitter
p.Ser352= Single submitter
p.Val144Ile Single submitter

Uncertain significance 83

p.Ala424Thr Single submitter ⚠
p.Ala476Ser Single submitter ⚠
p.Arg124Trp Single submitter ⚠
p.Arg138Cys Single submitter ⚠
p.Arg138His Single submitter ⚠
p.Arg166Gly Single submitter
p.Arg166His Single submitter ⚠
p.Arg191Cys Single submitter ⚠
p.Arg191His Single submitter ⚠
p.Arg377Cys Single submitter ⚠
p.Arg377His Single submitter ⚠
p.Arg384Cys Single submitter ⚠
p.Arg384His Single submitter ⚠
p.Arg487Cys Single submitter ⚠
p.Arg487His Single submitter ⚠
p.Arg488Trp Single submitter ⚠
p.Arg49Gln Single submitter ⚠
p.Arg67Cys Single submitter ⚠
p.Asn390Ser Single submitter ⚠
p.Asn440Ser Single submitter ⚠
p.Asn52Thr Single submitter ⚠
p.Asp222Gly Single submitter ⚠
p.Asp303Val Single submitter ⚠
p.Asp329Gly Single submitter ⚠
p.Asp331Gly Single submitter ⚠
p.Asp479Asn Single submitter ⚠
p.Asp92Asn Single submitter ⚠
p.Gln103Glu Single submitter ⚠
p.Gln167Arg Single submitter ⚠
p.Gln283His Single submitter
p.Gln344His Single submitter ⚠
p.Gln404Glu Single submitter ⚠
p.Gln413Leu Single submitter ⚠
p.Gln508Lys Single submitter ⚠
p.Glu354Ala Single submitter ⚠
p.Gly225Ser Single submitter ⚠
p.Gly297Val Single submitter ⚠
p.Gly517Ser Single submitter ⚠
p.Gly517Val Single submitter ⚠
p.Gly96Arg Single submitter ⚠
p.Gly96Asp Single submitter
p.His221Arg Single submitter
p.His397Arg Single submitter ⚠
p.Ile104Val Single submitter ⚠
p.Ile12Val Single submitter ⚠
p.Ile78Met Single submitter ⚠
p.Leu116Pro Single submitter
p.Leu116Val Single submitter ⚠
p.Leu185Val Single submitter
p.Leu44Pro Single submitter ⚠
p.Leu62Val Single submitter ⚠
p.Lys252Arg Single submitter ⚠
p.Lys522Glu Single submitter ⚠
p.Lys73Glu Single submitter
p.Met416Ile Single submitter ⚠
p.Met443Thr Single submitter ⚠
p.Phe154Leu Single submitter ⚠
p.Phe483Leu Single submitter ⚠
p.Pro113Thr Single submitter ⚠
p.Pro204Leu Single submitter ⚠
p.Pro364Ser Single submitter ⚠
p.Pro485Ser Single submitter ⚠
p.Pro485Thr Single submitter
p.Pro493Arg Single submitter ⚠
p.Pro520Ser Single submitter ⚠
p.Pro86Leu Single submitter ⚠
p.Ser300Phe Single submitter ⚠
p.Ser304Cys Single submitter ⚠
p.Ser439Leu Single submitter ⚠
p.Thr260Ala Single submitter ⚠
p.Thr426Met Single submitter ⚠
p.Thr70Ala Single submitter ⚠
p.Trp349Arg Single submitter ⚠
p.Tyr307His Single submitter ⚠
p.Tyr365Ser Single submitter ⚠
p.Val210Met Single submitter
p.Val268Ala Single submitter ⚠
p.Val323Met Single submitter
p.Val345Ala Single submitter ⚠
p.Val398Ala Single submitter
p.Val425Leu Single submitter ⚠
p.Val481Met Single submitter ⚠
p.Val501Met Single submitter ⚠