| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | von Willebrand disease type 1 | |
| | | Single nucleotide variant (missense variant) | von Willebrand disease type 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | von Willebrand disease type 3 | |
Click to view in NCBI Gene