| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | RASopathy +3 more | |
| | | Single nucleotide variant (nonsense) | Juvenile myelomonocytic leukemia +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Juvenile myelomonocytic leukemia +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene