22 Matching Annotations
  1. Oct 2026
  2. www.thieme-connect.com www.thieme-connect.com
    10.1055/a-2616-5161
    3
    1. ClingenBaseline 27 Oct 2026
      12–14 c.3922C > T p.Arg1308Cys C 28 A1 htz Missense na /AB/A 42/30/14 15 RCo /6/10 48/41 CSA /26

      Case: IP #14 in type 2B VWD sub-cohort

      DiseaseAssertion: type 2B VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032370 - blood group A

      CaseHPOFreeRext: VWF:Ag [IU/dL] = 14; VWF:Ac [IU/dL] = 10; FVIII:C [IU/dL] = 26

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.

      PreviouslyPublished:

      Gene: VWF

      Variant: c.3922C>T p.Arg1308Cys

      HGVS:

      ClinVarID: 289

      CAID:

      gnomAD: absent

      ClinVarID:289 Zygosity:Heterozygous InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2B Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:ClinVar ClinGen VWF
    2. ClingenBaseline 27 Oct 2026
      12–14 c.3922C > T p.Arg1308Cys C 28 A1 htz Missense na /AB/A 42/30/14 15 RCo /6/10 48/41

      Case: IP #13 in type 2B VWD sub-cohort

      DiseaseAssertion: type 2B VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032441 - blood group AB

      CaseHPOFreeRext: VWF:Ag [IU/dL] = 30; VWF:Ac [IU/dL] = 6; FVIII:C [IU/dL] = 10

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.

      PreviouslyPublished:

      Gene: VWF

      Variant: c.3922C>T p.Arg1308Cys

      HGVS:

      ClinVarID: 289

      CAID:

      gnomAD: absent

      ClinVarID:289 Zygosity:Heterozygous Mutation:Missense DiseaseEntity:VWD2B InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:12726 inferred_gene_source:ClinVar ClinGen VWF
    3. ClingenBaseline 27 Oct 2026
      12–14 c.3922C > T p.Arg1308Cys C 28 A1 htz Missense na /AB/A 42/30/14 15 RCo /6/10 48

      Case: IP #12 in type 2B VWD sub-cohort

      DiseaseAssertion: type 2B VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs:

      CaseHPOFreeRext: VWF:Ag [IU/dL] = 42; VWF:Ac [IU/dL] = 15; FVIII:C [IU/dL] = 48

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.

      PreviouslyPublished:

      Gene: VWF

      Variant: c.3922C>T p.Arg1308Cys

      HGVS:

      ClinVarID: 289

      CAID:

      gnomAD: absent

      ClinVarID:289 Zygosity:Heterozygous DiseaseEntity:VWD2B InheritancePattern:NoInheritanceAssertion Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:ClinVar ClinGen VWF
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    thieme-connect.com/products/ejournals/pdf/10.1055/a-2616-5161.pdf
  3. 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
    16
    1. ClingenBaseline 25 Oct 2026
      6

      Case: Patient 6 (Family B), male, 15yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

      (Absence of large von Willebrand factor multimers, 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 = 180, PFA 100 sec = >300, SPA % = 0, MADR mg/mL = 0.6, VWF:Ag U/dL = 30.9, VWF:CB U/dL = 12.5, VWF:CB ratio = 0.41, VWF:RCo U/dL = 11.4, VWF:RCo ratio = 0.37, Platelet VWF U/dL = 79.1, FVIII U/dL = 49.3, BAT F/M = 4

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B Zygosity:Heterozygous Mutation:Missense ClinVarID:289 InheritancePattern:AutosomalDominant Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    2. ClingenBaseline 25 Oct 2026
      11

      Case: Patient 11 (Family C), male, 80yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 182, PFA 100 sec = >300, SPA % = 0, MADR mg/mL = 0.45, VWF:Ag U/dL = 39.5, VWF:CB U/dL = 9.3, VWF:CB ratio = 0.24, VWF:RCo U/dL = 23.3, VWF:RCo ratio = 0.59, Platelet VWF U/dL = 113.90, FVIII U/dL = 52.1, BAT F/M = 14

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    3. ClingenBaseline 25 Oct 2026
      7

      Case: Patient 7 (Family B), male, 81yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871

      (Absence of large von Willebrand factor multimers, impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity, Impaired RIPA)

      CaseHPOFreeText: blood group A, Platelet count x103/μl = 165, PFA 100 sec = >300, SPA % = NA, MADR mg/mL = 0.6, VWF:Ag U/dL = 166.4, VWF:CB U/dL = 30.0, VWF:CB ratio = 0.18, VWF:RCo U/dL = 112.0, VWF:RCo ratio = 0.67, Platelet VWF U/dL = NA, FVIII U/dL = 136.0, BAT F/M = NA

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    4. ClingenBaseline 25 Oct 2026
      4

      Case: Patient 4 (Family A), male, 43yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

      (Absence of large von Willebrand factor multimers, 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 = 163, PFA 100 sec = >300, SPA % = 0, MADR mg/mL = 0.6, VWF:Ag U/dL = 42.8, VWF:CB U/dL = 10.6, VWF:CB ratio = 0.25, VWF:RCo U/dL = 25.2, VWF:RCo ratio = 0.58, Platelet VWF U/dL = 132.7, FVIII U/dL = 47.1, BAT F/M = 10

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    5. ClingenBaseline 24 Oct 2026
      5

      Case: Patient 5 (Family B), male, 26yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 176, PFA 100 sec = >300, SPA % = 8, MADR mg/mL = 0.6, VWF:Ag U/dL = 17.6, VWF:CB U/dL = 9.2, VWF:CB ratio = 0.52, VWF:RCo U/dL = 10.4, VWF:RCo ratio = 0.59, Platelet VWF U/dL = 76.6, FVIII U/dL = 38.8, BAT F/M = 8

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B Zygosity:Heterozygous Mutation:Missense ClinVarID:289 InheritancePattern:AutosomalDominant Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    6. ClingenBaseline 24 Oct 2026
      13

      Case: Patient 13 (Family C), male, 37yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 132, PFA 100 sec = >300, SPA % = 0, MADR mg/mL = 0.6, VWF:Ag U/dL = 51.9, VWF:CB U/dL = 10.6, VWF:CB ratio = 0.20, VWF:RCo U/dL = 25.2, VWF:RCo ratio = 0.48, Platelet VWF U/dL = 133.4, FVIII U/dL = 34.5, BAT F/M = 17

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    7. ClingenBaseline 24 Oct 2026
      15

      Case: Patient 15 (Family C), female, 14yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 126, PFA 100 sec = >300, SPA % = 0, MADR mg/mL = 0.45, VWF:Ag U/dL = 35.0, VWF:CB U/dL = 4.0, VWF:CB ratio = 0.11, VWF:RCo U/dL = 12.7, VWF:RCo ratio = 0.38, Platelet VWF U/dL = 141, FVIII U/dL = 46.0, BAT F/M = 6

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    8. ClingenBaseline 23 Oct 2026
      8

      Case: Patient 8 (Family B), female, 49yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

      (Absence of large von Willebrand factor multimers, 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 = 178, PFA 100 sec = >300, SPA % = 9.5, MADR mg/mL = 0.75, VWF:Ag U/dL = 23.0, VWF:CB U/dL = 4.2, VWF:CB ratio = 0.19, VWF:RCo U/dL = 13.8, VWF:RCo ratio = 0.63, Platelet VWF U/dL = 74.0, FVIII U/dL = 50.0, BAT F/M = 12

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    9. ClingenBaseline 23 Oct 2026
      3

      Case: Patient 3 (Family A), female, 38yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

      (Absence of large von Willebrand factor multimers, 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 = 207, PFA 100 sec = >300, SPA % = 0, MADR mg/mL = 0.45, VWF:Ag U/dL = 67.9, VWF:CB U/dL = 3.6, VWF:CB ratio = 0.06, VWF:RCo U/dL = 33.1, VWF:RCo ratio = 0.48, Platelet VWF U/dL = 128, FVIII U/dL = 54.5, BAT F/M = 10

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    10. ClingenBaseline 23 Oct 2026
      10

      Case: Patient 10 (Family C), female, 70yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 168, PFA 100 sec = >300, SPA % = 15, MADR mg/mL = 0.75, VWF:Ag U/dL = 44.6, VWF:CB U/dL = 10.3, VWF:CB ratio = 0.23, VWF:RCo U/dL = 21.4, VWF:RCo ratio = 0.47, Platelet VWF U/dL = 202.0, FVIII U/dL = 53.2, BAT F/M = 15

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    11. ClingenBaseline 22 Oct 2026
      20

      Case: Patient 20 (Family G), male, 58yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group B, Platelet count x103/μl = 213, PFA 100 sec = >300, SPA % = 12.6, MADR mg/mL = 0.3, VWF:Ag U/dL = 48.4, VWF:CB U/dL = 4.6, VWF:CB ratio = 0.10, VWF:RCo U/dL = 13.5, VWF:RCo ratio = 0.28, Platelet VWF U/dL = 175, FVIII U/dL = 56.4, BAT F/M = 17

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    12. ClingenBaseline 22 Oct 2026
      1

      Case: Patient 1 (Family A), female, 3yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group B, Platelet count x103/μl = 290, PFA 100 sec = >264, SPA % = NA, MADR mg/mL = NA, VWF:Ag U/dL = 41.0, VWF:CB U/dL = 4.4, VWF:CB ratio = 0.11, VWF:RCo U/dL = 13.2, VWF:RCo ratio = 0.33, Platelet VWF U/dL = 76.4, FVIII U/dL = 36.1, BAT F/M = NA

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous ClinVarID:289 Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    13. ClingenBaseline 22 Oct 2026
      14

      Case: Patient 14 (Family C), male, 39yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 210, PFA 100 sec = >300, SPA % = 0, MADR mg/mL = 0.6, VWF:Ag U/dL = 61.3, VWF:CB U/dL = 10.4, VWF:CB ratio = 0.17, VWF:RCo U/dL = 18.5, VWF:RCo ratio = 0.3, Platelet VWF U/dL = 119, FVIII U/dL = 40.0, BAT F/M = 6

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    14. ClingenBaseline 22 Oct 2026
      2

      Case: Patient 2 (Family A), male, 78yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 119, PFA 100 sec = >300, SPA % = 7, MADR mg/mL = 0.75, VWF:Ag U/dL = 44.7, VWF:CB U/dL = 11.8, VWF:CB ratio = 0.27, VWF:RCo U/dL = 28.4, VWF:RCo ratio = 0.63, Platelet VWF U/dL = 115, FVIII U/dL = 48.2, BAT F/M = 1

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    15. ClingenBaseline 22 Oct 2026
      12

      Case: Patient 12 (Family C), female, 60yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 154, PFA 100 sec = >300, SPA % = NA, MADR mg/mL = 0.75, VWF:Ag U/dL = 44.6, VWF:CB U/dL = 8.1, VWF:CB ratio = 0.18, VWF:RCo U/dL = 23.0, VWF:RCo ratio = 0.51, Platelet VWF U/dL = 127, FVIII U/dL = 68.0, BAT F/M = 18

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    16. ClingenBaseline 21 Oct 2026
      9

      Case: Patient 9 (Family B), male, 71yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

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

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 56, PFA 100 sec = >300, SPA % = 22, MADR mg/mL = 0.3, VWF:Ag U/dL = 81.2, VWF:CB U/dL = 25.9, VWF:CB ratio = 0.32, VWF:RCo U/dL = 33.75, VWF:RCo ratio = 0.41, Platelet VWF U/dL = 146.2, FVIII U/dL = 52, BAT F/M = NA

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:289 Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5480883/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex ® technique
    2
    1. ClingenBaseline 25 Oct 2026

      Case: P28, Chinese, male, 15yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 4; VWF:Ag (%) = 17.7, VWF:RCo (%) = 4.9, FVIII:C (%) = 25.5, VWF:CB (%) = 5.1, VWFpp (%) = 45.3, VWF:RCo/VWF:Ag = 0.3, VWF:CB/VWF:Ag = 0.3, VWFpp/VWF:Ag = 2.6, FVIII:C/VWF:Ag = 1.4, RIPA (0.5 mg/ml, %) = 20.5, PLT(×109/l) = 112

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2B Mutation:Missense Zygosity:Heterozygous InheritancePattern:AutosomalDominant ClinVarID:289 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    2. ClingenBaseline 22 Oct 2026

      Case: P57, Chinese, male, 28yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type AB blood, bleeding score = 5; VWF:Ag (%) = 33.4, VWF:RCo (%) = 3.2, FVIII:C (%) = 49.2, VWF:CB (%) = 4.8, VWFpp (%) = 67.3, VWF:RCo/VWF:Ag = 0.1, VWF:CB/VWF:Ag = 0.1, VWFpp/VWF:Ag = 2.0, FVIII:C/VWF:Ag = 1.5, RIPA (0.5 mg/ml, %) = 18.2, PLT(×109/l) = 146

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.2089G>C (p.Glu697Gln)

      HGVS: NM_000552.5:c.2089G>C (p.Glu697Gln)

      ClinVarID: NA

      CAID: CA383494704; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383494704

      gnomAD: absent

      Variant 2: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Variant 3: c.8113G>A (p.Gly2705Arg)

      HGVS: NM_000552.4(VWF):c.8113G>A (p.Gly2705Arg)

      ClinVarID: 256702; https://www.ncbi.nlm.nih.gov/clinvar/variation/256702/

      CAID: NA

      gnomAD: MAF = 0.1254 (3839/30614 alleles; 279 homozygotes)

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2B Mutation:Missense Zygosity:CompoundHeterozygous InheritancePattern:AutosomalRecessive CAid:CA383494704 ClinVarID:289 ClinVarID:256702 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF
    1
    1. ClingenBaseline 23 Oct 2026
      1

      Case: 2B-7

      DiseaseAssertion: VWD2B

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.43; AcuStar CB/Ag = 0.17; ELISA CB/Ag = 0.20

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 9858249

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/?new_evidence=false

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF DiseaseEntity:VWD2B InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:289 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/ijlh.12743