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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 22 Oct 2026

      PatientID: None

      KindredID: 3760

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Familial VHL stated; although only 1 family member recorded.

      CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma, retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666; HP:0005584 (Pheochromocytoma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8956040

      SupplementalData: N/A

      Variant: p.Y112* (c.336C>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.Y183* (c.549C>A)

      ClinVarID: N/A

      CAID: CA16602183 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.336C%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y112* (c.336C>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 CivicName:Y112*(c.336C>A) cDNAposition:336 ProteinPosition:112 AminoAcidChange:TYRtoTER MutationType:stop_gained CAID:CA16602183 ClinVarID:N/A NoFamilyInfo InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109