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    Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma
    1
    1. ClingenBaseline 02 Nov 2026
      VCB0.04T VHL RTK2 0.57 

      PatientID: VCB.04T

      KindredID: 5

      Case: Sex Unknown, 24Y0M, Ethnicity Unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002668; HP:0002666 (paraganglioma, pheochromocytoma)

      CaseHPOFreeText: Presented with bilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, RET, SDHA, SDHB, SDHC, SDHD, TMEM127

      PreviouslyPublished: 25545346 (see table S1 and S10)

      SupplementalData: Yes

      Variant: p.V166Dfs*9 (c.480_481insCGATGCCTCCAGGT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573119327 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573119327

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_2_frameshift_variant

      CivicName: V166Dfs*9 (c.480_481insCGATGCCTCCAGGT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:paraganglioma DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.3 ProteinPosition:166 CivicName:V166Dfs*9(c.480_481insCGATGCCTCCAGGT) AminoAcidChange:VALtoASP cDNAposition:480 MutationType:plus_2_frameshift_variant ExperimentalAssay NoFamilyInfo SupplementalData CAID:CA2573119327 ClinVarID:N/A PreviousTesting:MAX/RET/SDHA/SDHB/SDHC/SDHD/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/101/3/1034/2804853