7 Matching Annotations
  1. Last 7 days
  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
    6
    1. 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
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
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    pubmed.ncbi.nlm.nih.gov/28536718/
  3. www.thieme-connect.com www.thieme-connect.com
    10.1055/a-2616-5161
    1
    1. ClingenBaseline 21 Oct 2026
      2 Type 2A c.-2522C>Tc.3586T>Cp.Cys1196Arg 27 D3-TIL-3htzhtzRegulatoryMissenseA 14 8RCo 34

      Case: 2

      DiseaseAssertion: type 2A VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032370 - blood group A

      CaseHPOFreeRext: VWF:Ag [IU/dL] = 14; VWF:Ac [IU/dL] = 8; FVIII:C [IU/dL] = 34

      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.-2522C>T

      HGVS:

      ClinVarID: not found

      CAID: not found

      gnomAD:

      MultipleGeneVariants:

      Gene: VWF

      Variant: c.3586T>C

      ClinVarID: 100270

      Mutation:Regulatory Mutation:Missense ClinVarID:100270 DiseaseEntity:VWD2A InheritancePattern:NoInheritanceAssertion UnregisteredVariant Zygosity:CompoundHeterozygous inferred_gene_hgnc:2567 inferred_gene_source:ClinVar ClinGen VWF
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    thieme-connect.com/products/ejournals/pdf/10.1055/a-2616-5161.pdf