| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Basal cell carcinoma, susceptibility to, 7 +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Li-Fraumeni syndrome +4 more | |
| | | Deletion (intron variant) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Breast and/or ovarian cancer +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene