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    The severe von Willebrand disease variant p.M771V leads to impaired anterograde trafficking of von Willebrand factor in patient-derived and base-edited endothelial colony-forming cells
    3
    1. ClingenBaseline 21 Oct 2026
      homozygous c.2311A>G

      Gene:VWF

      HGNCID:12726

      Case:13 yo female

      DiseaseAssertion: Type 2N

      FamilyInfo:Fig. 1, family 2, patient 7

      ParentalGenotype(s):Unknown, obligate carriers

      CasePresentingHPOs:HP:0000421, HP:0004846, HP:0012147 HP:0030132, HP:0030130

      CaseHPOFreeRext:Oral cavity and joint bleeding, VWF:Ag 0.07 U/mL, VWF:Ac 0 U/mL, VWF:CB 0.05 U/mL, FVIII 0.04 U/mL, No VWF Multimers

      GenotypingMethod: NGS

      Gene:VWF

      Variant:c.2311A>G

      HGVS:NM_000552.5(VWF):c.2311A>G

      ClinVarID:1065273

      CAID:CA383522481

      InheritancePattern:AutosomalRecessive DiseaseEntity:NoDiseaseAssertion Mutation:Missense Zygosity:Homozygous ClinVarID:1065273 CAID:CA383522481 DiseaseEntity:VWD2N inferred_gene_hgnc:12726 inferred_gene_source:HGNC_body ClinGen VWF
    2. ClingenBaseline 21 Oct 2026
      homozygous c.2311A>G

      Gene:VWF

      HGNCID:12726

      Case:27 yo male

      DiseaseAssertion: Type 2N

      FamilyInfo:Fig. 1, family 1, patient 2

      ParentalGenotype(s):Unknown, obligate carriers

      CasePresentingHPOs:HP:0000421, HP:0012147 HP:0030132, HP:0030130

      CaseHPOFreeRext:Skin, oral cavity, and joint bleeding, Bleeding after tooth extractions and small wounds, VWF: Ag 0.07 U/mL, VWF:Act 0.05 U/mL, VWF:CB <0.05 U/mL, FVIII:C 0.01 U/mL, Less VWF Multimers

      GenotypingMethod: NGS

      Gene:VWF

      Variant:c.2311A>G

      HGVS:NM_000552.5(VWF):c.2311A>G

      ClinVarID:1065273

      CAID:CA383522481

      InheritancePattern:AutosomalRecessive DiseaseEntity:VWD2N Mutation:Missense Zygosity:Homozygous ClinVarID:1065273 CAID:CA383522481 inferred_gene_hgnc:12726 inferred_gene_source:HGNC_body ClinGen VWF
    3. ClingenBaseline 21 Oct 2026
      homozygous c.2311A>G

      Gene:VWF

      HGNCID:12726

      Case:17 yo male

      DiseaseAssertion: Type 2N

      FamilyInfo:Fig. 1, family 1, patient 3

      ParentalGenotype(s):Unknown, obligate carriers

      CasePresentingHPOs:HP:0000421, HP:0012147 HP:0030132, HP:0030130

      CaseHPOFreeRext:Oral cavity, skin, and muscle bleeding, Bleeding after tooth extractions, VWF: Ag 0.09 U/mL, VWF:Act 0.05 U/mL, VWF:CB 0.04 U/mL, FVIII:C 0.01 U/mL, No VWF Multimers

      GenotypingMethod: NGS

      Gene:VWF

      Variant:c.2311A>G

      HGVS:NM_000552.5(VWF):c.2311A>G

      ClinVarID:1065273

      CAID:CA383522481

      InheritancePattern:AutosomalRecessive DiseaseEntity:VWD2N Mutation:Missense Zygosity:Homozygous ClinVarID:1065273 CAID:CA383522481 inferred_gene_hgnc:12726 inferred_gene_source:HGNC_body ClinGen VWF
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    jthjournal.org/article/S1538-7836(24)00639-1/fulltext