Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Von Willebrand disease type 2B | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Von Willebrand disease type 2B +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Von Willebrand disease type 2B | |
| | | Single nucleotide variant (missense variant) | VWF-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | von Willebrand disease type 3 +6 more | |
| | | Single nucleotide variant (missense variant) | Von Willebrand disease type 2B +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Von Willebrand disease type 2B | |
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