| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | MPL-related condition +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Essential thrombocythemia +2 more | |
| | | Deletion (frameshift variant) | Congenital amegakaryocytic thrombocytopenia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital amegakaryocytic thrombocytopenia | |
| | | Single nucleotide variant (missense variant) | Primary myelofibrosis +2 more | |
Click to view in NCBI Gene