| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Café-au-lait macules with pulmonary stenosis +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene