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    Germ-Line Mutations in Nonsyndromic Pheochromocytoma | NEJM
    1
    1. ClingenBaseline 30 Oct 2026

      PatientID: N/A

      KindredID: 11

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Nonsyndromic pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.A122I (c.364_365delinsAT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.A122L (c.577_578GC>AT)

      ClinVarID: N/A

      CAID: CA658820874 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.364_365delinsAT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName: A122I (c.364_365GC>AT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:364 CivicName:A122I(c.364_365GC>AT) ProteinPosition:122 AminoAcidChange:ALAtoILE MutationType:delins CAID:CA658820874 ClinVarID:N/A NoFamilyInfo PreviousTesting:RET/SDHB/SDHD inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    nejm.org/doi/10.1056/NEJMoa020152