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    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
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    1. ClingenBaseline 22 Oct 2026

      PatientID: 237

      KindredID: 89

      Case: F, 46Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: The proband presented with renal cell carcinoma at age 46.

      CaseNotHPOs: HP:0010797; HP:0002666; HP:0009711; HP:0001737; HP:0001732 (Hemangioblastoma, Pheochromocytoma, Retinal capillary hemangioma, Pancreatic cysts, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: c.642+70C>T

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 900551, https://www.ncbi.nlm.nih.gov/clinvar/variation/900551/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: 3'UTR alteration (c.*70C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:46 ClinVarID:900551 ClinVarID:Yes MutationType:splice_site_variant CivicName:3'UTRalteration(c.*70C>T) SupplementalData inferred_gene_hgnc:27232 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/