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    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
    1
    1. ClingenBaseline 28 Oct 2026
      211436N—N—YNYYNc.486C>AExon 3p.Cys162*Stop codon

      PatientID: 21

      KindredID: 14

      Case: Sex Unknown, 36Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0001737; HP:0010797; HP:0005584 (pancreatic cyst, hemangioblastoma, renal cell carcinoma)

      CaseHPOFreeText: The patient at 36Y was confirmed with VHL. They had developed the above manifestations

      CaseNotHPOs: HP:0009711; HP:0030405; HP:0002668, HP:0002666; HP:0000107 (retinal capillary hemangioma, pancreatic endocrine tumor, paraganglioma, pheochromocytoma, renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162* (c.486C>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223226 https://www.ncbi.nlm.nih.gov/clinvar/variation/223226/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: C162* (c.486C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma ClinVarID:223226 ClinVarID:Yes ProteinPosition:162 cDNAposition:486 CivicName:C162*(c.486C>A) MutationType:stop_gained AminoAcidChange:CYStoTER Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/