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  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
    1
    1. ClingenBaseline 22 Oct 2026

      Case: P43, Chinese, male, 7yo

      DiseaseAssertion: VWD2N

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type B blood, bleeding score = 3; VWF:Ag (%) = 48.8, VWF:RCo (%) = 49.9, FVIII:C (%) = 6.4, VWF:CB (%) = 63.9, VWFpp (%) = 52.4, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 1.3, VWFpp/VWF:Ag = 1.1, FVIII:C/VWF:Ag = 0.1, VWF: FVIIIB (%) = 0.0

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.2372C>T (p.Thr791Met)

      HGVS: NM_000552.4(VWF):c.2372C>T (p.Thr791Met)

      ClinVarID: 294; https://www.ncbi.nlm.nih.gov/clinvar/variation/294/

      CAID: NA

      gnomAD: MAF = 0.00003984 (1/25100 alleles) in European (Finnish) population; https://gnomad.broadinstitute.org/variant/12-6153527-G-A?dataset=gnomad_r2_1

      Variant 2: c.2574C>G (p.Cys858Trp)

      HGVS: NM_000552.5:c.2574C>G (p.Cys858Trp)

      ClinVarID: NA

      CAID: CA232299278; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA232299278

      gnomAD: MAF = 0.0001002 (2/19954 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6143965-G-C

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2N InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Missense ClinVarID:294 CAid:CA232299278 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Two single nucleotide polymorphisms in the von Hippel-Lindau tumor suppressor gene in Taiwanese with renal cell carcinoma
    1
    1. ClingenBaseline 22 Oct 2026
      770FemaleIV# YesAAAGAGLOH (G)

      PatientID: 7

      KindredID: 7

      Case: F, 70Y0M, Taiwanese (East-Asian)

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: N/A

      CohortInfo: 8 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs1642742 in VHL (c.*294G>A). All but one of these patients (7/8) also presented with the germline variant rs779805 (c.-195G>A) in VHL.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: She had stage IV clear cell renal cell carcinoma with metastasis

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21982469

      SupplementalData: Yes - Additional file 1: Figure S1

      Variant: c.*294G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 342407 https://www.ncbi.nlm.nih.gov/clinvar/variation/342407/

      CAID: N/A

      gnomAD: 0.5911 https://gnomad.broadinstitute.org/variant/3-10191943-G-A

      VariantEvidence: LOH (G) of this mutation was found in the tumor tissue as well

      MutationType: 3_prime_UTR_variant

      CivicName: c.-195G>A AND c.*294G>A

      MultipleGeneVariants: Somatic, VHL, c.-195G>A

      InheritancePattern:AutosomalDominant Ethnicity:Taiwanese Ethnicity:EastAsian DiseaseEntity:clearcellrenalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:294 MutationType:3_prime_UTR_variant CivicName:c.*294G>A ClinVarID:342407 MultipleVHLVariants SupplementalData NoFamilyInfo ClinVarID:Yes CivicName:c.-195G>AANDc.*294G>A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4168206/