| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (nonsense) | Juvenile myelomonocytic leukemia +8 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +5 more | |
| | | Single nucleotide variant (nonsense) | Neurofibromatosis-Noonan syndrome +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene