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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination
    1
    1. ClingenBaseline 25 Oct 2026
      I : 1

      Case#: F6, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: partial loss of high molecular weight multimers, VWF:Ag = 56; VWF:RCo = 29; VWF:GPIbM = 75; 0.51; 1.34; 2.63

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[H1268D];[=]

      HGVS: c.3802C>G (p.His1268Asp)

      CAID: CA228445

      gnomAD: absent from gnomad v4.1.0

      CAID: CA228445 InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/jth.13062