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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 11 Nov 2026

      KindredID:43

      GroupID: 7

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      DiseaseAssertion: VHL

      GroupInfo: Kindred no.43 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: N/A

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: Pheochromocytoma was not observed in any members of the affected patient(s)' family (VHL type 1).

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V66* (c.196del)

      LegacyVariant: c.409delG (p.137TER)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432536396, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.196del

      gnomAD: N/A

      VariantEvidence:

      MutationType: stop_gained

      CivicName: V66*(c.196del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:196 ProteinPosition:66 AminoAcidChange:VALtoTER CAID:CA432536396 MutationType:stop_gained CivicName:V66*(c.196del) FamilyCohort ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7987306/