CPB2 — 54 ClinVar variants
All ClinVar germline CPB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
7 Benign · 11 Likely benign · 36 Uncertain significance
Full CPB2 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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPB2 p.Ala22Thr Uncertain significance Single submitter
- CPB2 p.Ala246Val Uncertain significance Single submitter
- CPB2 p.Ala74Thr Uncertain significance Single submitter
- CPB2 p.Asn210Ser Uncertain significance Single submitter
- CPB2 p.Asp371Asn Uncertain significance Single submitter
- CPB2 p.Gln105Arg Uncertain significance Single submitter
- CPB2 p.Gln67Arg Uncertain significance Single submitter
- CPB2 p.Glu360Gly Uncertain significance Single submitter
- CPB2 p.Gly150Arg Uncertain significance Single submitter
- CPB2 p.Leu395Ser Uncertain significance Single submitter
- CPB2 p.Lys66Thr Uncertain significance Single submitter
- CPB2 p.Ser118Leu Uncertain significance Single submitter
- CPB2 p.Ser338Thr Uncertain significance Single submitter
- CPB2 p.Thr361Ala Uncertain significance Single submitter
- CPB2 p.Thr404Ile Uncertain significance Single submitter
- CPB2 p.Trp264Arg Uncertain significance Single submitter
- CPB2 p.Val336Leu Uncertain significance Single submitter
- CPB2 p.Val86Met Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CPB2 p.Ala340Thr Uncertain significance Single submitter
- CPB2 p.Ala411Thr Uncertain significance Single submitter
- CPB2 p.Ala7Glu Uncertain significance Single submitter
- CPB2 p.Arg242Cys Uncertain significance Single submitter
- CPB2 p.Arg342Cys Uncertain significance Single submitter
- CPB2 p.Gln43His Uncertain significance Single submitter
- CPB2 p.Glu407Asp Likely benign Single submitter
- CPB2 p.Gly88Arg Likely benign Single submitter
- CPB2 p.Ile129Thr Uncertain significance Single submitter
- CPB2 p.Ile344Met Uncertain significance Single submitter
- CPB2 p.Lys171Glu Uncertain significance Single submitter
- CPB2 p.Met143Thr Uncertain significance Single submitter
- CPB2 p.Pro90Ser Uncertain significance Single submitter
- CPB2 p.Thr383Ala Uncertain significance Single submitter
- CPB2 p.Thr391Ile Uncertain significance Single submitter
- CPB2 p.Thr46Pro Uncertain significance Single submitter
- CPB2 p.Tyr119Cys Uncertain significance Single submitter
- CPB2 p.Tyr159His Uncertain significance Single submitter
- CPB2 p.Val39Leu Uncertain significance Single submitter
-
CPB2 p.Ile347Thr
Benign
No assertion criteria
CPB2-related disorder
All CPB2 variants
Benign 7
- p.Asp142= Multiple submitters
- p.Ala169Thr No assertion criteria CPB2-related disorder
- p.Asp226= No assertion criteria CPB2-related disorder
- p.Asp97= No assertion criteria CPB2-related disorder
- p.Ile251= No assertion criteria CPB2-related disorder
- p.Ile347Thr No assertion criteria CPB2-related disorder ⚠
- p.Pro221= No assertion criteria CPB2-related disorder
Likely benign 11
- p.Tyr245= Multiple submitters
- c.75-4C>G Single submitter
- p.Ala117Ser Single submitter
- p.Arg406Thr Single submitter
- p.Glu407Asp Single submitter ⚠
- p.Gly88Arg Single submitter ⚠
- p.Leu364= Single submitter
- p.Leu6Phe Single submitter
- p.Pro397= Single submitter
- p.Cys405= No assertion criteria CPB2-related disorder
- p.Glu184= No assertion criteria CPB2-related disorder
Uncertain significance 36
- p.Ala22Thr Single submitter ⚠
- p.Ala246Val Single submitter ⚠
- p.Ala340Thr Single submitter ⚠
- p.Ala411Thr Single submitter ⚠
- p.Ala74Thr Single submitter ⚠
- p.Ala7Glu Single submitter ⚠
- p.Arg242Cys Single submitter ⚠
- p.Arg342Cys Single submitter ⚠
- p.Asn210Ser Single submitter ⚠
- p.Asp371Asn Single submitter ⚠
- p.Gln105Arg Single submitter ⚠
- p.Gln43His Single submitter ⚠
- p.Gln67Arg Single submitter ⚠
- p.Glu360Gly Single submitter ⚠
- p.Gly150Arg Single submitter ⚠
- p.Ile129Thr Single submitter ⚠
- p.Ile344Met Single submitter ⚠
- p.Leu395Ser Single submitter ⚠
- p.Lys171Glu Single submitter ⚠
- p.Lys66Thr Single submitter ⚠
- p.Met143Thr Single submitter ⚠
- p.Pro90Ser Single submitter ⚠
- p.Ser118Leu Single submitter ⚠
- p.Ser338Thr Single submitter ⚠
- p.Thr361Ala Single submitter ⚠
- p.Thr383Ala Single submitter ⚠
- p.Thr391Ile Single submitter ⚠
- p.Thr404Ile Single submitter ⚠
- p.Thr46Pro Single submitter ⚠
- p.Trp264Arg Single submitter ⚠
- p.Tyr119Cys Single submitter ⚠
- p.Tyr159His Single submitter ⚠
- p.Val336Leu Single submitter ⚠
- p.Val39Leu Single submitter ⚠
- p.Val86Met Single submitter ⚠
- p.Gly203_Ile204insTer No assertion criteria CPB2-related disorder