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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 08 Nov 2026

      PatientID: 101

      KindredID: 101

      Case: Sex Unknown, 10Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Single benign PCC.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Patient information pulled from Supplemental Table 1a.

      Variant: p.P97L (c.290C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1503290, https://www.ncbi.nlm.nih.gov/clinvar/variation/1503290/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Carbonic anhydrase 9 (CA9) mRNA level of 30.92 was detected. Membrane CA9 immunostaining was observed.

      MutationType: missense_variant;transition

      CivicName: P97L (c.290C>T) and L116P (347T>C)

      MultipleGeneVariants: Germline, VHL, L116P (347T>C)

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:290 ProteinPosition:97 AminoAcidChange:PROtoLEU ClinVarID:1503290 ClinVarID:Yes MutationType:missense_variant;transition CivicName:P97L(c.290C>T)andL116P(347T>C) NoFamilyInfo SupplementalData MultipleVHLVariants DiseaseEntity:AssumedVHL inferred_gene_hgnc:11998 inferred_gene_source:CAID VHL Hypothesis Annotation
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    nature.com/articles/s41379-019-0343-4