CBR1 — 49 ClinVar variants
All ClinVar germline CBR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Benign · 3 Likely benign · 45 Uncertain significance
Full CBR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CBR1 p.Arg232Lys Uncertain significance Single submitter
- CBR1 p.Cys122Arg Uncertain significance Single submitter
- CBR1 p.Gln106Arg Uncertain significance Single submitter
- CBR1 p.Gly16Ser Uncertain significance Single submitter
- CBR1 p.Ile141Thr Uncertain significance Single submitter
- CBR1 p.Ile5Thr Uncertain significance Single submitter
- CBR1 p.Leu126Phe Uncertain significance Single submitter
- CBR1 p.Leu256Pro Uncertain significance Single submitter
- CBR1 p.Leu87Arg Uncertain significance Single submitter
- CBR1 p.Met111Val Uncertain significance Single submitter
- CBR1 p.Tyr81Asp Uncertain significance Single submitter
- CBR1 p.Val231Met Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- CBR1 p.Ala209Thr Uncertain significance Single submitter
- CBR1 p.Ala255Val Uncertain significance Single submitter
- CBR1 p.Ala52Val Uncertain significance Single submitter
- CBR1 p.Arg119Gln Uncertain significance Single submitter
- CBR1 p.Arg159Cys Uncertain significance Single submitter
- CBR1 p.Arg159His Uncertain significance Single submitter
- CBR1 p.Arg42Gly Uncertain significance Single submitter
- CBR1 p.Arg58His Uncertain significance Single submitter
- CBR1 p.Asp65Glu Uncertain significance Single submitter
- CBR1 p.Gln49Arg Uncertain significance Single submitter
- CBR1 p.Gln61His Uncertain significance Single submitter
- CBR1 p.Gln61Pro Uncertain significance Single submitter
- CBR1 p.Glu275Lys Uncertain significance Single submitter
- CBR1 p.Gly195Arg Likely benign Single submitter
- CBR1 p.Gly263Ser Uncertain significance Single submitter
- CBR1 p.Gly54Asp Uncertain significance Single submitter
- CBR1 p.His265Arg Uncertain significance Single submitter
- CBR1 p.His6Asp Uncertain significance Single submitter
- CBR1 p.Ile221Val Uncertain significance Single submitter
- CBR1 p.Leu19Trp Uncertain significance Single submitter
- CBR1 p.Phe95Leu Uncertain significance Single submitter
- CBR1 p.Pro100Thr Uncertain significance Single submitter
- CBR1 p.Pro152Ser Uncertain significance Single submitter
- CBR1 p.Pro244Ser Uncertain significance Single submitter
- CBR1 p.Pro258Ser Uncertain significance Single submitter
- CBR1 p.Thr197Met Uncertain significance Single submitter
- CBR1 p.Tyr253Asn Uncertain significance Single submitter
- CBR1 p.Tyr253Ser Uncertain significance Single submitter
- CBR1 p.Tyr81Cys Uncertain significance Single submitter
- CBR1 p.Val109Leu Uncertain significance Single submitter
- CBR1 p.Val138Ile Likely benign Single submitter
- CBR1 p.Val169Leu Uncertain significance Single submitter
- CBR1 p.Val203Ile Uncertain significance Single submitter
- CBR1 p.Val40Met Uncertain significance Single submitter
- CBR1 p.Val47Ala Uncertain significance Single submitter
All CBR1 variants
Benign 1
- p.Thr197= Multiple submitters
Likely benign 3
- p.Gly195Arg Single submitter ⚠
- p.Met142Val Single submitter
- p.Val138Ile Single submitter ⚠
Uncertain significance 45
- p.Ala209Thr Single submitter ⚠
- p.Ala255Val Single submitter ⚠
- p.Ala52Val Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg159Cys Single submitter ⚠
- p.Arg159His Single submitter ⚠
- p.Arg232Lys Single submitter ⚠
- p.Arg42Gly Single submitter ⚠
- p.Arg58His Single submitter ⚠
- p.Asp65Glu Single submitter ⚠
- p.Cys122Arg Single submitter ⚠
- p.Gln106Arg Single submitter ⚠
- p.Gln49Arg Single submitter ⚠
- p.Gln61His Single submitter ⚠
- p.Gln61Pro Single submitter ⚠
- p.Glu275Lys Single submitter ⚠
- p.Gly16Ser Single submitter ⚠
- p.Gly263Ser Single submitter ⚠
- p.Gly54Asp Single submitter ⚠
- p.His265Arg Single submitter ⚠
- p.His6Asp Single submitter ⚠
- p.Ile141Thr Single submitter ⚠
- p.Ile221Val Single submitter ⚠
- p.Ile5Thr Single submitter ⚠
- p.Leu126Phe Single submitter ⚠
- p.Leu19Trp Single submitter ⚠
- p.Leu256Pro Single submitter ⚠
- p.Leu87Arg Single submitter ⚠
- p.Met111Val Single submitter ⚠
- p.Phe95Leu Single submitter ⚠
- p.Pro100Thr Single submitter ⚠
- p.Pro152Ser Single submitter ⚠
- p.Pro244Ser Single submitter ⚠
- p.Pro258Ser Single submitter ⚠
- p.Thr197Met Single submitter ⚠
- p.Tyr253Asn Single submitter ⚠
- p.Tyr253Ser Single submitter ⚠
- p.Tyr81Asp Single submitter ⚠
- p.Tyr81Cys Single submitter ⚠
- p.Val109Leu Single submitter ⚠
- p.Val169Leu Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val231Met Single submitter ⚠
- p.Val40Met Single submitter ⚠
- p.Val47Ala Single submitter ⚠