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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
    1
    1. ClingenBaseline 21 Oct 2026
      P9

      Case: P9, M/26

      DiseaseAssertion: VWD1

      FamilyInfo: No family history

      ParentalGenotype: NA

      CaseHPOFreeText: The bleeding score was 1, aPTT was 44 seconds, FVIII:C was 9%, VWF:RCo was 13 IU/dL, and VWF:Ag was 6 IU/dL, with a VWF:RCo/VWF:Ag ratio of 2.0. The VWF multimer pattern was normal, RIPA was 3 ohms, and the platelet count was 217 × 10⁹/L.

      CasePreviousTesting: NA

      GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.

      Gene: VWF

      Variant: c.3614G>A, p.R1205H — heterozygous

      HGVS: NM_000552.5(VWF):c.3614G>A (p.Arg1205His)

      ClinVar: 308

      CAID: CA114160

      gnomAD: https://gnomad.broadinstitute.org/variant/chr12-6021960-C-T?dataset=gnomad_r4

      InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous ClinVar: 308 CAID: CA114160 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pmc.ncbi.nlm.nih.gov/articles/PMC6660331/