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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation
    1
    1. ClingenBaseline 26 Oct 2026
      PMID: 20567917

      PatientID: 2

      KindredID: 2

      Case: F, 29Y0M, Brazilian

      DiseaseAssertion: VHL

      FamilyInfo: VHL type 1. Genetic testing has been performed in her parents and brother with negative results. Her only child has not undergone predictive testing yet.

      CasePresentingHPOs: HP:0030393; HP:0009711; HP:0010797; HP:0000107; HP:0001737; HP:0001407 (endolymphatic sac tumor; retinal capillary hemangioma; hemangioblastoma; renal cysts; pancreatic cysts; hepatic cysts)

      CaseHPOFreeText: endolymphatic sac tumor diagnosed at 11Y, retinal angiomas at 16Y; hemangioblastoma, renal, pancreatic, and hepatic cysts at 29Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.Q73* (c.217C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223164 https://www.ncbi.nlm.nih.gov/clinvar/variation/223164/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q73* (c.217C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Brazilian DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hepaticcysts DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma AgeOfPresentation:endolymphaticsactumor:11 AgeOfPresentation:retinalcapillaryhemangioma:16 AgeOfPresentation:hemangioblastoma:29 AgeOfPresentation:hepaticcysts:29 AgeOfPresentation:pancreaticcysts:29 Mutation:Germline RefSeq:NM_000551.2 NonFamilial FamilyPedigree ClinVarID:223164 ClinVarID:Yes MutationType:stop_gained ProteinPosition:73 cDNAposition:217 CivicName:Q73*(c.217C>T) AminoAcidChange:GLNtoTER SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/20567917/