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    Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome
    1
    1. ClingenBaseline 24 Oct 2026

      GroupID: III (from Hemangioma VHL Associated Group)

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Studied 36 VHL-related pheochromocytoma by comparative genomic hybridization. In addition, we compared their genetic profiles with those of (1) multiple endocrine neoplasia type 2 (MEN 2)-related pheochromocytomas; (2) previously reported sporadic pheochromocytomas; and (3) VHL-related CNS hemangioblastomas.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: The patient had VHL associated hemangioblastoma (table 1).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MEN1 and SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C77_N78insL (c.230_231insTCT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.C77_N78insL (c.443_444insTCT)

      ClinVarID: N/A

      CAID: CA2499214029, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.230_231insTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: C77_N78insL (c.230_231insTCT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:inframe_insertion AssumedRefSeq:AF010238.1 Familial ClinVarID:N/A CAID:CA2499214029 CivicName:C77_N78insL(c.230_231insTCT) cDNAPosition:230 ProteinPosition:77 AminoAcidChange:N/A DiseaseEntity:VHL DiseaseEntity:hemangioblastoma PreviousTesting:MEN1/SDHD inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    nature.com/articles/1205149