| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant +1 more) | Thrombocytopenia +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | MYH9-related disorder +10 more | |
Click to view in NCBI Gene