| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice acceptor variant) | Li-Fraumeni syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Li-Fraumeni syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
Click to view in NCBI Gene