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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease
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    1. ClingenBaseline 23 Oct 2026
      Disease-associated genetic abnormalities were identified in all of the seven families examined.

      PatientID: father

      KindredID: F

      Case: M, 53Y0M, Chinese

      DiseaseAssertion: assumed VHL

      FamilyInfo: Family history is said to be positive. Patient’s father had hemangioblastoma of the CNS at 23Y, and pancreatic cysts at 25Y.

      CasePresentingHPOs: HP:0010797; HP:0001737 (hemangioblastoma, pancreatic cysts)

      CaseHPOFreeText: Patient had hemangioblastoma of the CNS and pancreatic cysts diagnosed at 53Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q145* (c.433C>T)

      LegacyVariant: p.Q145* (c.646C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625249 https://www.ncbi.nlm.nih.gov/clinvar/variation/625249/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q145* (c.433C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeOfPresentation:pancreaticcysts:53 AgeOfPresentation:hemangioblastoma:53 Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:625249 ClinVarID:Yes CivicName:Q145*(c.433C>T) cDNAposition:433 ProteinPosition:145 AminoAcidChange:GLNtoTER MutationType:stop_gained Familial inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21972040/