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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype
    1
    1. ClingenBaseline 09 Nov 2026

      KindredID: 103

      GroupID: 14

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      DiseaseAssertion: VHL

      GroupInfo: Kindred no.103 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene. Family history indicates that pheochromocytoma is not present in this kindred.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: No other phenotypic information is listed for this kindred.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S80R (c.240T>G)

      LegacyVariant: p.S151R (c.453T>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351750515

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: S80R (c.240T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:240 ProteinPosition:80 AminoAcidChange:SERtoARG ClinVarID:N/A CAID:CA351750515 MutationType:missense_variant;transversion FamilyCohort CivicName:S80R(c.240T>G) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7987306/