| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital amegakaryocytic thrombocytopenia 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital amegakaryocytic thrombocytopenia | |
| | | Duplication (frameshift variant) | Congenital amegakaryocytic thrombocytopenia +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene