| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Macrothrombocytopenia | |
| | | Duplication (frameshift variant) | Macrothrombocytopenia | |
| | | Single nucleotide variant (nonsense +1 more) | Thrombocytopenia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Thrombocytopenia | |
| | | Single nucleotide variant (splice donor variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Thrombocythemia 1 | |
| | | Single nucleotide variant (genic upstream transcript variant +3 more) | Amegakaryocytic thrombocytopenia, congenital, 2 +1 more | GConflicting classifications of pathogenicity |
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