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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Family history of von Hippel–Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients
    1
    1. ClingenBaseline 01 Nov 2026
      proband 9

      PatientID: 9

      KindredID: 9

      Case: Sex Unknown, 39Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Positive family history. The patient's mother had the same VHL mutation and presented with CNS hemangioblastoma.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: HP:0006770, HP:0001732 (clear cell renal cell carcinoma, abnormality of the pancreas)

      CaseHPOFreeText: The patient presented with clear cell renal cell carcinoma at age 34 and multiple pancreatic cysts or tumours at age 38.

      CaseNotHPOs: HP:0009711, HP:0002666, HP:0030393, HP:0010797 (retinal capillary hemangioma, pheochromocytoma, endolymphatic sac tumor, hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 24986515

      SupplementalData: N/A

      Variant: p.W88* (c.263G>A)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182978 https://www.ncbi.nlm.nih.gov/clinvar/variation/182978/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName:W88*(c.263G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 Ethnicity:Chinese DiseaseEntity:VHL Familial DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:clearcellrenalcellcarcinoma:34 AgeOfPresentation:abnormalityofthepancreas:38 ProteinPosition:88 CivicName:W88*(c.263G>A) cDNAposition:263 AminoAcidChange:TRPto* ClinVarID:182978 ClinVarID:Yes MutationType:stop_gained inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/22357542/