| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Neurofibromatosis, type 1 +13 more | |
| | | Deletion (frameshift variant) | Neurofibromatosis, type 1 | |
| | | Single nucleotide variant (nonsense) | Juvenile myelomonocytic leukemia +5 more | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +5 more | |
Click to view in NCBI Gene