| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Congenital amegakaryocytic thrombocytopenia +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Congenital amegakaryocytic thrombocytopenia 1 +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Congenital amegakaryocytic thrombocytopenia +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MPL-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Thrombocythemia 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital amegakaryocytic thrombocytopenia +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided | |
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