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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease
    1
    1. ClingenBaseline 30 Oct 2026
      another affected relative [III-A, in the pedigree]

      PatientID: III-A

      KindredID: 1

      Case: M, 30Y0M, EthnicityUnknown

      DiseaseAssertion: VHL

      FamilyInfo: Multiple first- and second-degree relatives affected with similar phenotypes. Of these, he is genetically tested and found to share VHL mutations with his uncle (proband).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Paper asserts that this individual presented with VHL phenotypes but does not specify which.

      CaseNotHPOs: NA

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Information obtained from Figure 1

      Variant: p.L158Q (c.473T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 376048, https://www.ncbi.nlm.nih.gov/clinvar/variation/376048/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86S (c.256C>T) and Splice Region (c.340+5G>C)

      MultipleGeneVariants: Germline, VHL, c.340+5G>C

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:NM_000551 AssumedRefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:LEUtoGLN ClinVarID:376048 ClinVarID:Yes MultipleVHLVariants MutationType:missense_variant;transversion PreviousTesting: N/A FamilyPedigree Familial SupplementalData CivicName:P86S(c.256C>T)andSpliceRegion(c.340+5G>C) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4812357/