| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Congenital amegakaryocytic thrombocytopenia +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Essential thrombocythemia +3 more | |
| | | Single nucleotide variant (missense variant) | Primary myelofibrosis +5 more | |
| | | Single nucleotide variant (missense variant) | MPL-related disorder +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Essential thrombocythemia +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital amegakaryocytic thrombocytopenia +5 more | |
| | | Single nucleotide variant (missense variant) | Essential thrombocythemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital amegakaryocytic thrombocytopenia +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided | |
Click to view in NCBI Gene