3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients
    3
    1. ClingenBaseline 23 Oct 2026

      Case#: 06002, Age 39, Female,Blood Type O+ (Table S3)

      Disease Assertion: VWD1

      FamilyInfo: Two total members in Family #0602. Patient 06003 has the c.2685G>C variant and a seperate intronic variant.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding score 8, VWF:Ag: 25, VWF:RCo: 19.1, FVIII:C:88, VWF:CB:24

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

      Gene: VWF

      Variant: NM_000552.4:c.2685G>C (p.Gln895His) and NM_000552.4:c.4751A>G (p.Tyr1584Cys)

      ClinVar: 310

      ClinVar

      CAID: CA383519910 and CA114162

      CAID1 CAID2

      gnomAD: MAF of 0.004024 (519/128972 alleles) in the European (non-Finnish) population.

      gnomAD

      Individual CaseInfo SupplementalData Gene:VWF DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous CAID:CA383519910 ClinVar:310 CAID:CA114162 Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 23 Oct 2026

      Case#: 13014, Age20, Male, Blood type O+ (TableS3)

      Disease Assertion: VWD 1

      FamilyInfo: The patient is the only member of Family#1311.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding Score 6, VWF:Ag:24, VWF:RCo: 22.5, FVIII:C:40, VWF:CB: 20

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

      Gene: VWF

      Variant: NM_000552.4:c.4751A>G (p.Tyr1584Cys)

      ClinVar: 310 ClinVar

      CAID: CA114162 CAID

      gnomAD: MAF of 0.004024 (519/ 128972 alleles) in the European (non-Finnish) population

      Individual CaseInfo SupplementalData Gene:VWF Zygosity:Heterozygous ClinVar:310 CAID:CA114162 Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 22 Oct 2026

      Case#: 01028, Age 8, Male, Blood type O+( Table S3)

      Disease Assertion: VWD 1

      FamilyInfo: Not listed

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding score 7, VWF:Ag: 21, VWF:RCo: 33, FVIII:C: 34, VWF:CB: 30

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.

      Gene: VWF

      Variant: NM_000552.4:c.4751A>G (p.Tyr1584Cys) and NM_000552.3:c.5312-19A>C

      ClinVar: 310 and 806794

      ClinVar1

      ClinVar2

      CAID: CA114162 and CA6402297 CAID1 CAID2

      gnomAD: MAF of 0.004024 (519/128972 alleles) in the European (non-Finnish) population (CA114162). MAF of 0.002507 (26/10370 alleles) in the Ashkenazi Jewish population.

      gnomAD1

      gnomAD2

      Individual CaseInfo SupplementalData Zygosity:Heterozygous Mutation:Missense Mutation:Intronic Gene:VWF DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion CAID:CA114162 ClinVarID:310 CAID:CA6402297 ClinVarID:806794 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5709099/