9 Matching Annotations
  1. Last 7 days
  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
    9
    1. ClingenBaseline 24 Oct 2026
      I : 1

      Case#: F11, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 35; VWF:RCo = 5; VWF:GPIbM = 27; 0.14; 0.78; 5.44

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1306W];[=]

      HGVS: c.3916C>T (p.Arg1306Trp)

      CAID: CA114123

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114123 m Mutation:Missense Zygosity:Heterozygous InheritancePattern:AutosomalDominant inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      II : 3

      Case#: F10, II:3

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 53; VWF:RCo = 13; VWF:GPIbM = 37; 0.25; 0.69; 2.82

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1306W];[=]

      HGVS: c.3916C>T (p.Arg1306Trp)

      CAID: CA114123

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114123 InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 23 Oct 2026
      II : 2

      Case#: F10, II:2

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 40; VWF:RCo = 5; VWF:GPIbM = 16; 0.13; 0.40; 3.20

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1306W];[=]

      HGVS: c.3916C>T (p.Arg1306Trp)

      CAID: CA114123

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114123 Mutation:Missense InheritancePattern:AutosomalDominant Zygosity:Heterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    4. ClingenBaseline 23 Oct 2026
      III : 1

      Case#: F10, III:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 39; VWF:RCo = 12; VWF:GPIbM = 26; 0.31; 0.67; 2.18

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1306W];[=]

      HGVS: c.3916C>T (p.Arg1306Trp)

      CAID: CA114123

      gnomAD: absent from gnomad v4.1.0

      Mutation:Missense InheritancePattern:AutosomalDominant Zygosity:Heterozygous CAID: CA114123 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    5. ClingenBaseline 23 Oct 2026
      II : 1

      Case#: F10, II:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 30; VWF:RCo = 5; VWF:GPIbM = 17; 0.17; 0.57; 3.44

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1306W];[=]

      HGVS: c.3916C>T (p.Arg1306Trp)

      CAID: CA114123

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114123 InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    6. ClingenBaseline 22 Oct 2026
      III : 3

      Case#: F10, III:3

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 25; VWF:RCo = 6; VWF:GPIbM = 17; 0.23; 0.67; 2.95

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1306W];[=]

      HGVS: c.3916C>T (p.Arg1306Trp)

      CAID: CA114123

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114123 InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    7. ClingenBaseline 22 Oct 2026
      I : 3

      Case#: F10, I:3

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 50; VWF:RCo = 6; VWF:GPIbM = 29; 0.12; 0.58; 4.82

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1306W];[=]

      HGVS: c.3916C>T (p.Arg1306Trp)

      CAID: CA114123

      gnomAD: absent from gnomad v4.1.0

      InheritancePattern:AutosomalDominant Mutation:Missense Zygosity:Heterozygous CAID: CA114123 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    8. ClingenBaseline 22 Oct 2026
      I : 1

      Case#: F10, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 82; VWF:RCo = 27; VWF:GPIbM = 97; 0.33; 1.19; 3.62

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1306W];[=]

      HGVS: c.3916C>T (p.Arg1306Trp)

      CAID: CA114123

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114123 InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    9. ClingenBaseline 22 Oct 2026
      I : 1

      Case#: F9, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 23; VWF:RCo = 7; VWF:GPIbM = 21; 0.29; 0.93; 3.18

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1306W];[=]

      HGVS: c.3916C>T (p.Arg1306Trp)

      CAID: CA114123

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114123 InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1111/jth.13062