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    Novel genotype–phenotype correlations in five Chinese families with Von Hippel–Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026
      ProbandMalec.293A>G; p.Try98Cys

      PatientID: 5

      KindredID: 5

      Case: M, 10Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: (See figure 3E for pedigree). The proband (Patient 5's) mother had left adrenal pheochromocytomas, and his grandmother had bilateral adrenal pheochromocytomas.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: Proband presented with bilateral adrenal pheochromocytoma

      CaseNotHPOs:None

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98C (c.293A>G)

      LegacyVariant: N/A

      CaseProblemVariant Free Text: N/A

      ClinVar: 223176, https://www.ncbi.nlm.nih.gov/clinvar/variation/223176/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_transition

      CivicName: Y98C (c.293A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoCYS ClinVarID:223176 MutationType:missense_variant;transition CivicName:Y98C(c.293A>G) Familial FamilyPedigree Ethnicity:Chinese ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6026882/