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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 13 Nov 2026
      2,3Deletion

      PatientID: II:1

      KindredID: 1

      Case: M, 37Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: the patient’s father was observed to be affected with CNS hemangioblastoma at 50Y

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0009715 (hemangioblastoma; retinal capillary hemangioma, Papillary cystadenoma of the epididymis)

      CaseHPOFreeText: patient had hemangioblastomas diagnosed at 37Y, retinal capillary hemangioma at 31Y, and epididymal/ovarian cystadenoma at 16Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: exon 2,3 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 2-3 deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:37 DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:31 DiseaseEntity:papillarycystadenomaoftheepididymis AgeOfPresentation:papillarycystadenomaoftheepididymis:16 ClinVarID:N/A UnregisteredVariant MutationType:exon_loss_variant CivicName:EXON2-3DELETION Mutation:Germline AssumedRefSeq:NM_000551.3 Familial ExperimentalAssay FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    cancerres.aacrjournals.org/content/74/14/3802