| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Platelet-type bleeding disorder 17 | |
| | | Single nucleotide variant (missense variant) | Platelet-type bleeding disorder 17 | |
| | | Single nucleotide variant (missense variant +1 more) | Platelet-type bleeding disorder 17 | |
| | | Single nucleotide variant (splice donor variant) | Thrombocytopenia +1 more | |
Click to view in NCBI Gene