| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia | |
| | | Single nucleotide variant (missense variant) | Congenital amegakaryocytic thrombocytopenia | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Congenital amegakaryocytic thrombocytopenia | |
Click to view in NCBI Gene