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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:71

      GroupID: 10

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      DiseaseAssertion: VHL

      GroupInfo: Kindred no.71 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene. Family history indicates that pheochromocytoma is present in this kindred.

      GroupPresentingHPOs: HP:0002666 (Pheochromocytoma)

      GroupHPOFreeText: This study investigated the frequency of different mutation classes between kindreds with and without pheochromocytoma. No other information about disease presentation within members of a kindred could be inferred.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C77Lfs*55 (c.228dup)

      LegacyVariant: c.441insC (p.147fs)

      GroupProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA658795177, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.228_229insC

      gnomAD: N/A

      VariantEvidence:

      MutationType: plus_1_frameshift_variant; duplication

      CivicName: C77Lfs*55(c.228dup)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL RefSeq:AF010238.1 cDNAposition:228 ProteinPosition:77 AminoAcidChange:CYStoLEU CAID:CA658795177 MutationType:plus_1_frameshift_variant MutationType:duplication CivicName:C77Lfs*55(c.228dup) DiseaseEntity:pheochromocytoma 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/