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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 29 Oct 2026
      probands

      PatientID: 4

      KindredID: 4

      Case: Sex Unknown, 45Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient had no family history of VHL disease.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001732 (hemangioblastoma; renal cell carcinoma; abnormality of the pancreas

      CaseHPOFreeText: The patient presented with a hemangioblastoma at age 34, as well as renal cell carcinoma and abnormality of the pancreas at age 44.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115R (c.344A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049376, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.344A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: H115R (c.344A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 Ethnicity:Chinese NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:hemangioblastoma:34 AgeOfPresentation:renalcellcarcinoma:44 AgeOfPresentation:abnormalityofthepancreas:44 ClinVarID:N/A CAID:CA70049376 cDNAPosition:344 ProteinPosition:115 AminoAcidChange:HIStoARG inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/22357542/