2 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue
    2
    1. ClingenBaseline 25 Oct 2026
      1

      Case: Patient 1 (Family A), female, 48yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030129, HP:0030130, HP:0011871, HP:0012147

      (impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity, Impaired RIPA, Reduced quantity of VWF)

      CaseHPOFreeText: blood group A, Platelet count x103/μl = 232, PFA 100 sec = NA, SPA % = 12, MADR mg/mL = 0.45, VWF:Ag U/dL = 160.6, VWF:CB U/dL = 135.6, VWF:CB ratio = 0.84, VWF:RCo U/dL = 132.8, VWF:RCo ratio = 0.83, Platelet VWF U/dL = 92.0, FVIII U/dL = 78.0, BAT F/M = 6

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.4115T>G (p.Ile1372Ser)

      HGVS: NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser)

      ClinVarID: 100327; https://www.ncbi.nlm.nih.gov/clinvar/variation/100327/

      gnomAD: MAF = 0.00006175 (7/113356 alleles) in the European (non-Finnish) population; https://gnomad.broadinstitute.org/variant/12-6128469-A-C?dataset=gnomad_r2_1

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:100327 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    2. ClingenBaseline 23 Oct 2026
      2

      Case: Patient 2 (Family A), female, 75yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030129, HP:0030130, HP:0011871, HP:0012147

      (impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity, Impaired RIPA, Reduced quantity of VWF)

      CaseHPOFreeText: blood group A, Platelet count x103/μl = 322, PFA 100 sec = NA, SPA % = 10, MADR mg/mL = 0.6, VWF:Ag U/dL = 133, VWF:CB U/dL = 144.2, VWF:CB ratio = 1.1, VWF:RCo U/dL = 106, VWF:RCo ratio = 0.79, Platelet VWF U/dL = 129.5, FVIII U/dL = 126, BAT F/M = 3

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.4115T>G (p.Ile1372Ser)

      HGVS: NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser)

      ClinVarID: 100327; https://www.ncbi.nlm.nih.gov/clinvar/variation/100327/

      gnomAD: MAF = 0.00006175 (7/113356 alleles) in the European (non-Finnish) population; https://gnomad.broadinstitute.org/variant/12-6128469-A-C?dataset=gnomad_r2_1

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:100327 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5480883/