| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Thrombocytopenia, anemia, and myelofibrosis | |
| | | Deletion (frameshift variant) | Thrombocytopenia, anemia, and myelofibrosis | |
| | | Single nucleotide variant (nonsense +2 more) | Thrombocytopenia +1 more | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia +1 more | |
Click to view in NCBI Gene