| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal recessive 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
Click to view in NCBI Gene