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  2. nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca
    Genetic Analyses of Apparently Sporadic Pheochromocytomas
    1
    1. ClingenBaseline 28 Oct 2026
      37 M 26 B A VHL T401C L63P

      PatientID: 37

      KindredID: 37

      Case: M, 26Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Patients with apparently sporadic pheochromocytomas.

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L63P(c.188T>C)

      LegacyVariant: p.L63P(c.401T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2227 https://www.ncbi.nlm.nih.gov/clinvar/variation/2227/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L63P(c.188T>C)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma ageofpresentation:adrenalpheochromocytoma:26 NonFamilial cDNAposition:188 ProteinPosition:63 AminoAcidChange:LEUtoPRO ClinVarID:2227 ClinVarID:Yes CivicName:L63P(c.188T>C) AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca/doi/full/10.1196/annals.1353.014