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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic analysis of von Hippel-Lindau disease
    1
    1. ClingenBaseline 22 Oct 2026

      PatientID: N/A

      KindredID: 198

      Case: Age unknown, Sex unknown, Ethnicity unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Paper states: Germline, de novo

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes (Specifically Supp. Table S2)

      Variant: p.W117Cfs*42 (c.351del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: paper states c.350delG which automaps to NM_000551.3:c.351delG

      ClinVarID: 223197 https://www.ncbi.nlm.nih.gov/clinvar/variation/223197/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: W117fs (c.351del)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma ProteinPosition:117 cDNAposition:351 AminoAcidChange:TRPtoCYS CivicName:W117fs(c.351del) MutationType:minus_1_frameshift_variant ClinVarID:223197 ClinVarID:Yes SupplementalData ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.21219