| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (nonsense) | Li-Fraumeni syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome 1 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant +1 more) | Hereditary cancer-predisposing syndrome | |
Click to view in NCBI Gene