CPB1 — 69 ClinVar variants
All ClinVar germline CPB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
9 Benign · 7 Likely benign · 53 Uncertain significance
Full CPB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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.
- CPB1 p.Ala127Thr Uncertain significance Single submitter
- CPB1 p.Ala193Ser Uncertain significance Single submitter
- CPB1 p.Arg191Gly Uncertain significance Single submitter
- CPB1 p.Arg237Cys Uncertain significance Single submitter
- CPB1 p.Asn251Asp Uncertain significance Single submitter
- CPB1 p.Asp249Asn Uncertain significance Single submitter
- CPB1 p.Asp255Gly Uncertain significance Single submitter
- CPB1 p.Cys273Arg Uncertain significance Single submitter
- CPB1 p.Glu102Ala Uncertain significance Single submitter
- CPB1 p.Gly257Asp Uncertain significance Single submitter
- CPB1 p.Gly274Glu Uncertain significance Single submitter
- CPB1 p.Gly321Ser Uncertain significance Single submitter
- CPB1 p.Gly360Arg Uncertain significance Single submitter
- CPB1 p.Leu2Phe Uncertain significance Single submitter
- CPB1 p.Leu44Ser Uncertain significance Single submitter
- CPB1 p.Lys332Arg Uncertain significance Single submitter
- CPB1 p.Lys336Arg Uncertain significance Single submitter
- CPB1 p.Thr124Met Uncertain significance Single submitter
- CPB1 p.Thr226Pro Uncertain significance Single submitter
- CPB1 p.Val109Ile Uncertain significance Single submitter
- CPB1 p.Val132Ile Uncertain significance Single submitter
- CPB1 p.Val132Leu Uncertain significance Single submitter
- CPB1 p.Val412Ile Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
- CPB1 p.Ile394Met Benign Multiple submitters
- CPB1 p.Ala133Thr Uncertain significance Single submitter
- CPB1 p.Ala285Ser Uncertain significance Single submitter
- CPB1 p.Ala358Thr Uncertain significance Single submitter
- CPB1 p.Ala409Ser Uncertain significance Single submitter
- CPB1 p.Ala409Val Uncertain significance Single submitter
- CPB1 p.Arg195Cys Uncertain significance Single submitter
- CPB1 p.Arg195His Benign Single submitter
- CPB1 p.Arg199Cys Uncertain significance Single submitter
- CPB1 p.Arg199His Uncertain significance Single submitter
- CPB1 p.Arg265Gln Likely benign Single submitter
- CPB1 p.Arg291His Uncertain significance Single submitter
- CPB1 p.Arg380Gln Uncertain significance Single submitter
- CPB1 p.Arg42Cys Uncertain significance Single submitter
- CPB1 p.Arg70His Likely benign Single submitter
- CPB1 p.Asp208Ala Uncertain significance Single submitter
- CPB1 p.Asp75Gly Uncertain significance Single submitter
- CPB1 p.Glu399Lys Uncertain significance Single submitter
- CPB1 p.Gly343Ser Uncertain significance Single submitter
- CPB1 p.His16Tyr Uncertain significance Single submitter
- CPB1 p.Ile311Val Uncertain significance Single submitter
- CPB1 p.Ile94Met Uncertain significance Single submitter
- CPB1 p.Leu12Pro Uncertain significance Single submitter
- CPB1 p.Leu320Ile Uncertain significance Single submitter
- CPB1 p.Leu327Trp Uncertain significance Single submitter
- CPB1 p.Phe170Leu Uncertain significance Single submitter
- CPB1 p.Ser238Thr Uncertain significance Single submitter
- CPB1 p.Ser295Tyr Uncertain significance Single submitter
- CPB1 p.Thr283Ser Uncertain significance Single submitter
- CPB1 p.Thr334Pro Uncertain significance Single submitter
- CPB1 p.Thr344Ile Uncertain significance Single submitter
- CPB1 p.Tyr197Cys Uncertain significance Single submitter
- CPB1 p.Val32Ala Uncertain significance Single submitter
- CPB1 p.Val8Met Uncertain significance Single submitter
-
CPB1 p.Arg42His
Benign
No assertion criteria
CPB1-related disorder
-
CPB1 p.Asp172Glu
Benign
No assertion criteria
CPB1-related disorder
-
CPB1 p.Asp208Asn
Benign
No assertion criteria
CPB1-related disorder
-
CPB1 p.Phe232Leu
Benign
No assertion criteria
CPB1-related disorder
-
CPB1 p.Ser65Gly
Likely benign
No assertion criteria
CPB1-related disorder
All CPB1 variants
Benign 9
- c.778+6T>C Multiple submitters
- p.Ile394Met Multiple submitters ⚠
- p.Arg195His Single submitter ⚠
- p.Leu207= Single submitter
- p.Arg42His No assertion criteria CPB1-related disorder ⚠
- p.Asp172Glu No assertion criteria CPB1-related disorder ⚠
- p.Asp208Asn No assertion criteria CPB1-related disorder ⚠
- p.Gly24= No assertion criteria CPB1-related disorder
- p.Phe232Leu No assertion criteria CPB1-related disorder ⚠
Likely benign 7
- c.687+6T>C Single submitter
- p.Arg265Gln Single submitter ⚠
- p.Arg395Gln Single submitter
- p.Arg70His Single submitter ⚠
- p.Val132= Single submitter
- p.His64= No assertion criteria CPB1-related disorder
- p.Ser65Gly No assertion criteria CPB1-related disorder ⚠
Uncertain significance 53
- p.Ala127Thr Single submitter ⚠
- p.Ala133Thr Single submitter ⚠
- p.Ala193Ser Single submitter ⚠
- p.Ala285Ser Single submitter ⚠
- p.Ala358Thr Single submitter ⚠
- p.Ala409Ser Single submitter ⚠
- p.Ala409Val Single submitter ⚠
- p.Arg191Gly Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg199Cys Single submitter ⚠
- p.Arg199His Single submitter ⚠
- p.Arg237Cys Single submitter ⚠
- p.Arg291His Single submitter ⚠
- p.Arg380Gln Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Asn251Asp Single submitter ⚠
- p.Asp208Ala Single submitter ⚠
- p.Asp249Asn Single submitter ⚠
- p.Asp255Gly Single submitter ⚠
- p.Asp75Gly Single submitter ⚠
- p.Cys273Arg Single submitter ⚠
- p.Glu102Ala Single submitter ⚠
- p.Glu399Lys Single submitter ⚠
- p.Gly257Asp Single submitter ⚠
- p.Gly274Glu Single submitter ⚠
- p.Gly321Ser Single submitter ⚠
- p.Gly343Ser Single submitter ⚠
- p.Gly360Arg Single submitter ⚠
- p.His16Tyr Single submitter ⚠
- p.Ile311Val Single submitter ⚠
- p.Ile94Met Single submitter ⚠
- p.Leu12Pro Single submitter ⚠
- p.Leu2Phe Single submitter ⚠
- p.Leu320Ile Single submitter ⚠
- p.Leu327Trp Single submitter ⚠
- p.Leu44Ser Single submitter ⚠
- p.Lys332Arg Single submitter ⚠
- p.Lys336Arg Single submitter ⚠
- p.Phe170Leu Single submitter ⚠
- p.Ser238Thr Single submitter ⚠
- p.Ser295Tyr Single submitter ⚠
- p.Thr124Met Single submitter ⚠
- p.Thr226Pro Single submitter ⚠
- p.Thr283Ser Single submitter ⚠
- p.Thr334Pro Single submitter ⚠
- p.Thr344Ile Single submitter ⚠
- p.Tyr197Cys Single submitter ⚠
- p.Val109Ile Single submitter ⚠
- p.Val132Ile Single submitter ⚠
- p.Val132Leu Single submitter ⚠
- p.Val32Ala Single submitter ⚠
- p.Val412Ile Single submitter ⚠
- p.Val8Met Single submitter ⚠