| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Li-Fraumeni syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Li-Fraumeni syndrome +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Li-Fraumeni syndrome +2 more | |
| | | Duplication (frameshift variant) | Li-Fraumeni syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene