Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Bernard-Soulier syndrome, type A1 | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Bernard-Soulier syndrome, type A1 | |
Click to view in NCBI Gene