| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant +5 more | |
| | | Deletion (frameshift variant) | not specified +5 more | |
| | GP1BA, LOC130060044 (Q587H) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | GP1BA, LOC130060044 (N616fs) | Deletion (frameshift variant) | Bernard Soulier syndrome +6 more | |
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