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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Associations between VHL genotype and clinical phenotype in familial von Hippel-Lindau disease
    1
    1. ClingenBaseline 24 Oct 2026
      We studied six patients with VHL disease and their relatives. Loss of heterozygosity (LOH) was determined by five flanking microsatellite polymorphic markers in the VHL locus

      PatientID: 4

      KindredID: F02

      Case: F, Age Unknown, Taiwanese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: A total of 2 members of this family (F02) had a complete deletion of the VHL gene. One of these patients (3) presented with clinical features of VHL.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: Exon 1 Deletion (c.1-?_340+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Deletion of 53.3kb resulted in deletion of Exon 1 in the VHL gene.

      MutationType: exon_loss_variant

      CivicName: Exon 1 Deletion

      MultipleGeneVariants: Germline, FANCD2, deletion

      InheritancePattern:AutosomalDominant Ethnicity:Taiwanese Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A UnregisteredVariant MutationType:exon_loss_variant CivicName:Exon1Deletion FamilyPedigree Familial SupplementalData DiseaseEntity:Asymptomatic inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/17537157/
  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/