| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital amegakaryocytic thrombocytopenia 1 +6 more | |
| | | Single nucleotide variant (missense variant) | Essential thrombocythemia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene