| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia, isolated, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia, isolated, 1, autosomal dominant +2 more | |
Click to view in NCBI Gene