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    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
    1
    1. ClingenBaseline 12 Nov 2026
      181115N—N—NYYYYc.309_322del14aExon 1p.G104fs*231Frameshif

      PatientID: 18

      KindredID: 11

      Case: Sex Unknown, 15Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0000107; HP:0009711; HP:0001737; HP:0010797 (renal cyst, retinal capillary hemangioma, pancreatic cyst, hemangioblastoma)

      CaseHPOFreeText: The patient at 15Y was confirmed with VHL. They had developed the above manifestations

      CaseNotHPOs: HP:0030405; HP:0002668, HP:0002666; HP:0005584 (pancreatic endocrine tumor, paraganglioma, pheochromocytoma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G104Hfs*23 (c.309_322del14)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA645524833 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.309_322del14

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_2_frameshift_variant

      CivicName: G104fs (c.309_322del14)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma CAID:CA645524833 ClinVarID:N/A NoFamilyInfo CivicName:G104fs(c.309_322del14) MutationType:minus_2_frameshift_variant AminoAcidChange:GLYtoHIS cDNAposition:309 cDNAposition:322 ProteinPosition:104 Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/