6 Matching Annotations
  1. Oct 2026
  2. journals.plos.org journals.plos.org
    pone.0092575 1..14
    6
    1. ClingenBaseline 24 Oct 2026
      14 2 F 31 c.5335C.T p.R1779* Htz 3 2.6 6 + +

      Case: 14, F, 2 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: yes, family history of disease

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): 3, VWF:Ag (U/dl): 2.6, Bleeding Score: 6

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.5335C>T (p.Arg1779*), Exon 31, Heterozygous

      DiseaseEntity:VWD3 Mutation:Nonsense Zygosity:Heterozygous CAID:CA228713 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      11 13 F 31 c.5335C.T p.R1779* Hmz 1 2.3 11 - -

      Case: 11, F, 13 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no, no family history of disease

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): 1, VWF:Ag (U/dl): 2.3, Bleeding Score: 11

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.5335C>T (p.Arg1779*), Exon 31, Homozygous

      DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Nonsense CAID:CA228713 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 22 Oct 2026
      13 3 M 31 c.5335C.T p.R1779* Hmz 5.4 ,1 3 - -

      Case: 13, M, 3 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no, no family history of disease

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): 5.4, VWF:Ag (U/dl): <1, Bleeding Score: 3

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.5335C>T (p.Arg1779*), Exon 31, Homozygous

      DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Nonsense CAID:CA228713 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    4. ClingenBaseline 21 Oct 2026
      10 42 M 31 c.5335C.T p.R1779* Htz ,1 ,1 34 + -

      Case: 10, M, 42 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no, family history of disease

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): <1, Bleeding Score: 34

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.5335C>T (p.Arg1779*), Exon 31, Heterozygous

      DiseaseEntity:VWD3 Zygosity:Heterozygous Mutation:Nonsense CAID:CA228713 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    5. ClingenBaseline 21 Oct 2026
      15 29 M 31 c.5335C.T p.R1779* Hmz 1.8 ,1 16 + -

      Case: 15, M, 29 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no, family history of disease

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): 1.8, VWF:Ag (U/dl): <1, Bleeding Score: 16

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.5335C>T (p.Arg1779*), Exon 31, Homozygous

      DiseaseEntity:VWD3 Mutation:Nonsense Zygosity:Homozygous CAID:CA228713 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    6. ClingenBaseline 21 Oct 2026
      12 16 F 31 c.5335C.T p.R1779* Hmz 6 ,1 16 + -

      Case: 12, F, 16 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no, family history of disease

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): 6, VWF:Ag (U/dl): <1, Bleeding Score: 16

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.5335C>T (p.Arg1779*), Exon 31, Homozygous

      DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Nonsense CAID:CA228713 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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