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  2. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families
    1
    1. ClingenBaseline 08 Nov 2026
      1Deletion

      PatientID: proband 17

      KindredID: 17

      Case: M, 21Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: the patients mother was found at 43Y with RCC and multiple pancreatic cysts or tumors, however she passed before any diagnosis of DNA sample was provided

      CasePresentingHPOs: HP:0009711; HP:0009715 (retinal capillary hemangioma, Papillary cystadenoma of the epididymis)

      CaseHPOFreeText: patient was found with retinal hemangioblastomas and epididymal/ovarian cystadenoma at 21Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: exon 1 deletion

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: exon 1 deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:21 DiseaseEntity:papillarycystadenomaoftheepididymis AgeOfPresentation:papillarycystadenomaoftheepididymis:21 UnregisteredVariant ClinVarID:N/A CivicName:Exon1Deletion MutationType:exon_loss_variant ExperimentalAssay Familial AssumedRefSeq:NM_000551.3 Mutation:Germline inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    cancerres.aacrjournals.org/content/74/14/3802