| | | Single nucleotide variant (nonsense) | Bernard Soulier syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Bernard Soulier syndrome +3 more | |
| | | Deletion (frameshift variant) | Bernard Soulier syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Bernard Soulier syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Bernard Soulier syndrome +3 more | |
| | | Deletion (frameshift variant) | Bernard Soulier syndrome +3 more | |
| | | Duplication (frameshift variant) | Bernard Soulier syndrome +3 more | |
| | | Deletion (frameshift variant) | Bernard Soulier syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Bernard Soulier syndrome +3 more | |
| | | Deletion (frameshift variant) | Bernard Soulier syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Bernard Soulier syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Pseudo von Willebrand disease +3 more | |
| | LOC130060044, GP1BA (R592Q) | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | |
| | | Deletion (frameshift variant) | Pseudo von Willebrand disease +3 more | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | |
| | | Deletion (inframe_indel) | Pseudo von Willebrand disease | |
| | GP1BA, LOC130060044 (N616fs) | Deletion (frameshift variant) | Bernard Soulier syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | |
| | GP1BA, LOC130060044 (Q587H) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Nonarteritic anterior ischemic optic neuropathy, susceptibility to +5 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease +4 more | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | GPathogenic/Likely pathogenic |