| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (nonsense) | Li-Fraumeni syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +1 more | |
| | | Deletion (frameshift variant) | Bone osteosarcoma +21 more | |
Click to view in NCBI Gene