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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
    4
    1. ClingenBaseline 24 Oct 2026
      II : 1

      Case#: F3, II:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: all mutimers present, VWF:Ag = 45; VWF:RCo = 38; VWF:GPIbM = 45; 0.84; 1.00; 1.19

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[P1266L];[=]

      HGVS: NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)

      CAID: CA114170

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019621-G-A?dataset=gnomad_r4

      CAID: CA114170 InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      I : 1

      Case#: F3, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: all mutimers present, VWF:Ag = 60; VWF:RCo = 57; VWF:GPIbM = 59; 0.95; 0.98; 1.03

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[P1266L];[=]

      HGVS: NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)

      CAID: CA114170

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019621-G-A?dataset=gnomad_r4

      CAID: CA114170 InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 24 Oct 2026
      II : 1

      Case#: F2, II:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: all mutimers present, VWF:Ag = 68; VWF:RCo = 66; VWF:GPIbM = 61; 0.97; 0.90; 0.93

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[P1266L];[=]

      HGVS: NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)

      CAID: CA114170

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019621-G-A?dataset=gnomad_r4

      InheritancePattern:AutosomalDominant DiseaseEntity:VWD2B Mutation:Missense Zygosity:Heterozygous CAID: CA114170 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    4. ClingenBaseline 24 Oct 2026
      I : 1

      Case#: F2, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: all mutimers present, VWF:Ag = 30; VWF:RCo = 29; VWF:GPIbM = 24; 0.97; 0.81; 0.84

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[P1266L];[=]

      HGVS: NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)

      CAID: CA114170

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019621-G-A?dataset=gnomad_r4

      InheritancePattern:AutosomalDominant DiseaseEntity:VWD2B Mutation:Missense Zygosity:Heterozygous CAID: CA114170 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/jth.13062