| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant +5 more | |
| | | Deletion (frameshift variant) | Pseudo von Willebrand disease +5 more | |
| | GP1BA, LOC130060044 (Q587H) | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease +4 more | |
| | LOC130060044, GP1BA (N616fs) | Deletion (frameshift variant) | GP1BA-related condition +6 more | |
Click to view in NCBI Gene