| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial meningioma +3 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Rhabdoid tumor predisposition syndrome 1 +2 more | |
Click to view in NCBI Gene