CBFB — 18 ClinVar variants
All ClinVar germline CBFB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
2 Pathogenic · 5 Benign · 3 Likely benign · 8 Uncertain significance
Full CBFB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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 split 3
The independent predictors disagree with each other — read with care.
All CBFB variants
Pathogenic 2
- c.283-1039_400-7568del No assertion criteria cleidocranial dysplasia 2
- c.78+1G>T No assertion criteria cleidocranial dysplasia 2
Benign 5
- c.400-206T>C Multiple submitters
- c.495+144G>A Multiple submitters
- c.78+111G>A Multiple submitters
- c.79-18G>T Multiple submitters
- c.282+204C>T Single submitter
Likely benign 3
- c.282+10A>G No assertion criteria CBFB-related disorder
- c.78+8_78+11del No assertion criteria CBFB-related disorder
- c.*2dup No assertion criteria CBFB-related disorder
Uncertain significance 8
- c.283-2A>G Single submitter cleidocranial dysplasia 2
- p.Arg147Gly Single submitter ⚠
- p.Arg83Ter Single submitter cleidocranial dysplasia 2
- p.Gln45His Single submitter ⚠
- p.Glu163Gly Single submitter ⚠
- p.Phe32fs Single submitter CBFB-related disorder
- p.Pro100fs Single submitter acute myeloid leukemia
- p.Ser173Asn Single submitter