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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic analysis of von Hippel-Lindau disease
    1
    1. ClingenBaseline 24 Oct 2026

      PatientID: N/A

      KindredID: 442

      Case: Age unknown, Sex unknown, Ethnicity unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Paper states: Germline, de novo (no clear confirmation)

      CasePresentingHPOs: HP:0005584; HP:0010797 (renal cell carcinoma, hemangioblastoma)

      CaseHPOFreeText: Bilateral RCC and a hemangioblastoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes (Specifically Supp. Table S2)

      Variant: p.G144* (c.430G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223208 https://www.ncbi.nlm.nih.gov/clinvar/variation/223208/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: G144* (c.430G>T)

      MultipleGeneVariants: N/A

      Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:VHL InheritancePattern:DeNovoAssertion DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma CivicName:G144*(c.430G>T) cDNAposition:430 ProteinPosition:144 MutationType:stop_gained AminoAcidChange:GLYtoTER ClinVarID:223208 ClinVarID:Yes NonFamilial ExperimentalAssay SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.21219