11 Matching Annotations
  1. Oct 2026
  2. 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
    11
    1. ClingenBaseline 24 Oct 2026

      Case: P41, Chinese, female, 13yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 18; VWF:Ag (%) = 1.6, VWF:RCo (%) = 1.5, FVIII:C (%) = 2.8, VWF:CB (%) = 1.7, VWFpp (%) = 1.3, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 1.1, VWFpp/VWF:Ag = 0.8, FVIII:C/VWF:Ag = 1.8

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.2547-13T>A - Unregistered Variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:Homozygous Mutation:Regulatory UnregisteredVariant inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    2. ClingenBaseline 23 Oct 2026

      Case: P69, Chinese, male, 12yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 3; VWF:Ag (%) = 2.8, VWF:RCo (%) = 2.5, FVIII:C (%) = 10.5, VWF:CB (%) = 3.2, VWFpp (%) = 2.7, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 1.1, VWFpp/VWF:Ag = 1.0, FVIII:C/VWF:Ag = 3.8, RIPA (1.2 mg/ml, %) = 49.7

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.484T>C (p.Cys162Arg)

      HGVS: NM_000552.3:c.484T>C (p.Cys162Arg)

      ClinVarID: NA

      CAID: CA383518153; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383518153

      gnomAD: absent

      Variant 2: c.7884C>G (.Pro2628=) - reported to be a splice site variant

      HGVS: NM_000552.5:c.7884C>G (.Pro2628=)

      ClinVarID: NA

      CAID: CA6401487; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6401487

      gnomAD: MAF = 0.0002175 (4/18388 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6076655-G-C

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD1 Mutation:Missense Mutation:Regulatory Zygosity:CompoundHeterozygous CAid:CA383518153 CAid:CA6401487 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 23 Oct 2026

      Case: P49, Chinese, male, 7yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type B blood, bleeding score = 3; VWF:Ag (%) = 1.5, VWF:RCo (%) = 1.3, FVIII:C (%) = 8.0, VWF:CB (%) = 1.6, VWFpp (%) = 1.1, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 1.1, VWFpp/VWF:Ag = 0.7, FVIII:C/VWF:Ag = 5.3

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.1534-13_c.1551delinsCA - unregistered variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Variant 2: c.2968-14A>G

      HGVS: NM_000552.5:c.2968-14A>G

      ClinVarID: NA

      CAID: CA690485152; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA690485152

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Regulatory UnregisteredVariant CAid:CA690485152 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    4. ClingenBaseline 22 Oct 2026

      Case: P54, Chinese, female, 30yo

      DiseaseAssertion: VWD2A

      FamilyInfo: both parents had mild type 1 VWD, a second undetected variant may exist in patient

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 4; VWF:Ag (%) = 27.0, VWF:RCo (%) = 1.8, FVIII:C (%) = 44.6, VWF:CB (%) = 1.1, VWFpp (%) = 11.2, VWF:RCo/VWF:Ag = 0.1, VWF:CB/VWF:Ag = 0.0, VWFpp/VWF:Ag = 0.4, FVIII:C/VWF:Ag = 1.7

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.875–5T>G - Unregistered Variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD2A Mutation:Regulatory Zygosity:Heterozygous UnregisteredVariant inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    5. ClingenBaseline 22 Oct 2026

      Case: P90, Chinese, female, 30yo

      DiseaseAssertion: VWD2A

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 12; VWF:Ag (%) = 10.1, VWF:RCo (%) = 3.3, FVIII:C (%) = 10.7, VWF:CB (%) = 2.6, VWFpp (%) = 151.7, VWF:RCo/VWF:Ag = 0.3, VWF:CB/VWF:Ag = 0.3, VWFpp/VWF:Ag = 15.0, FVIII:C/VWF:Ag = 1.1

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.1730-2A>G

      HGVS: NM_000552.4(VWF):c.1730-2A>G

      ClinVarID: 100189; https://www.ncbi.nlm.nih.gov/clinvar/variation/100189/

      CAID: NA

      gnomAD: absent

      Variant 2: c.6979T>A (p.Cys2327Ser)

      HGVS: NM_000552.3:c.6979T>A (p.Cys2327Ser)

      ClinVarID: NA

      CAID: CA383492042; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383492042

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD2A Mutation:Regulatory Mutation:Missense Zygosity:CompoundHeterozygous ClinVarID:100189 CAid:CA383492042 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    6. ClingenBaseline 21 Oct 2026

      Case: P7, Chinese, female, 27yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 9; VWF:Ag (%) = 5.4, VWF:RCo (%) = 5.3, FVIII:C (%) = 28, VWF:CB (%) = 4.1, VWFpp (%) = 4.8, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 0.8, VWFpp/VWF:Ag = 0.9, FVIII:C/VWF:Ag = 5.2, RIPA (1.2 mg/ml, %) = 73.3

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.711C>G (p.Cys237Trp)

      HGVS: NM_000552.3:c.711C>G (p.Cys237Trp)

      ClinVarID: NA

      CAID: CA383509260; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383509260

      gnomAD: absent

      Variant: c.1109+47T>A - Unregistered Variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD1 Mutation:Missense Mutation:Regulatory Zygosity:CompoundHeterozygous CAid:CA383509260 UnregisteredVariant inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    7. ClingenBaseline 21 Oct 2026

      Case: P10, Chinese, male, 5yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 2; VWF:Ag (%) = 4.2, VWF:RCo (%) = 3.8, FVIII:C (%) = 30.1, VWF:CB (%) = 3.5, VWFpp (%) = 4.1, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.8, VWFpp/VWF:Ag = 1.0, FVIII:C/VWF:Ag = 7.4, RIPA (1.2 mg/ml, %) = 40.1

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.7199delA (p.Asn2400Thrfs*4) - Unregistered Variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Variant 2: c.8155+5G>C - Unregistered Variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD1 Mutation:Frameshift Mutation:Regulatory Zygosity:CompoundHeterozygous UnregisteredVariant inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    8. ClingenBaseline 21 Oct 2026

      Case: P77, Chinese, female, 10yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type B blood, bleeding score = 7; VWF:Ag (%) = 3.0, VWF:RCo (%) = 2.7, FVIII:C (%) = 6.8, VWF:CB (%) = 2.1, VWFpp (%) = 3.2, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.7, VWFpp/VWF:Ag = 1.1, FVIII:C/VWF:Ag = 2.3

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.6771C>A (p.Cys2257Ter)

      HGVS: NM_000552.5:c.6771C>A (p.Cys2257Ter)

      ClinVarID: NA

      CAID: CA383489897; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383489897

      gnomAD: absent

      Variant 2: c.8116-2delA - unregistered variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Nonsense Mutation:Regulatory CAid:CA383489897 UnregisteredVariant inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    9. ClingenBaseline 21 Oct 2026

      Case: P61, Chinese, female, 34yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 2; VWF:Ag (%) = 57.6, VWF:RCo (%) = 57.8, FVIII:C (%) = 76.2, VWF:CB (%) = 67.4, VWFpp (%) = 62.7, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 1.2, VWFpp/VWF:Ag = 1.1, FVIII:C/VWF:Ag = 1.3

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.-128G>A

      HGVS: NM_000552.3:c.-128G>A

      ClinVarID: NA

      CAID: CA603092904; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA603092904

      gnomAD: MAF = 0.001182 (1/846 alleles) in Latino/Admixed American population; https://gnomad.broadinstitute.org/variant/12-6233714-C-T

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Regulatory Zygosity:Heterozygous CAid:CA603092904 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    10. ClingenBaseline 21 Oct 2026

      Case: P22, Chinese, male, 22yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 10; VWF:Ag (%) = 1.4, VWF:RCo (%) = 1.2, FVIII:C (%) = 5.1, VWF:CB (%) = 1.3, VWFpp (%) = 1.0, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.9, VWFpp/VWF:Ag = 0.7, FVIII:C/VWF:Ag = 3.6

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.8116–2delA - Unregistered variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Regulatory UnregisteredVariant inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    11. ClingenBaseline 21 Oct 2026

      Case: P42, Chinese, male, 10yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 1; VWF:Ag (%) = 41.9, VWF:RCo (%) = 33.9, FVIII:C (%) = 54.7, VWF:CB (%) = 46.8, VWFpp (%) = 34.6, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 1.1, VWFpp/VWF:Ag = 0.8, FVIII:C/VWF:Ag = 1.3

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.-672C>T

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Regulatory Zygosity:Heterozygous UnregisteredVariant inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/28536718/