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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic analysis of von Hippel-Lindau disease
    1
    1. ClingenBaseline 11 Nov 2026

      PatientID: N/A

      KindredID: 33912

      Case: Age unknown, Sex unknown, Portuguese

      DiseaseAssertion: VHL

      FamilyInfo: Paper states: Portuguese family; Germline mutation

      CasePresentingHPOs: Unknown

      CaseHPOFreeText: Said to be VHL phenotype with unknown specifics

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes (Specifically Supp. Table S2)

      Variant: p.H115Q (c.345C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496058 https://www.ncbi.nlm.nih.gov/clinvar/variation/496058/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: H115Q (c.345C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:VHL Ethnicity:Portuguese CivicName:H115Q(c.345C>G) cDNAposition:345 ProteinPosition:115 AminoAcidChange:HIStoGLN MutationType:missense_variant;transversion ClinVarID:496058 ClinVarID:Yes ExperimentalAssay Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.21219