| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion) | Vascular malformation | |
| | | Single nucleotide variant (missense variant) | Juvenile myelomonocytic leukemia +5 more | |
| | | Single nucleotide variant (missense variant) | RASopathy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RASopathy +4 more | |
Click to view in NCBI Gene