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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 04 Nov 2026

      PatientID: None

      KindredID: 4398

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

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

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0005584 (hemangioblastoma; retinal capillary hemangioma, renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78H (c.232A>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.N149H (c.445A>C)

      ClinVarID: 625225 https://www.ncbi.nlm.nih.gov/clinvar/variation/625225/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: N78H (c.232A>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 ClinVarID:Yes ClinVarID:625225 InheritancePattern:AutosomalDominant Familial MutationType:missense_variant;transversion CivicName:N78H(c.232A>C) cDNAposition:232 ProteinPosition:78 AminoAcidChange:ASNtoHIS inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109