| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Insertion (inframe_insertion) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Breast and/or ovarian cancer +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Tracheoesophageal fistula +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group J +1 more | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +3 more | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group J +1 more | |
Click to view in NCBI Gene