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    Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma—a retrospective and prospective study
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: 86

      KindredID: 86

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Patient information pulled from Supplemental Table 1b.

      Variant: p.L163I (c.487C>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756131

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L163I (c.487C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:487 ProteinPosition:163 AminoAcidChange:LEUtoILE ClinVarID:N/A CAID:CA351756131 MutationType:missense_variant;transversion CivicName:L163I(c.487C>A) NoFamilyInfo SupplementalData DiseaseEntity:AssumedVHL inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    nature.com/articles/s41379-019-0343-4