| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome 1 | |
| | | Single nucleotide variant (no sequence alteration) | not specified | |
| | | Single nucleotide variant (missense variant) | Bone marrow failure syndrome 5 +16 more | |
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