| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Neurofibromatosis, type 1 +2 more | |
| | | Duplication (nonsense) | Neurofibromatosis, type 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene