| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Neurofibromatosis, type 1 | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +8 more | |
| | | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Neurofibromatosis, type 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene