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  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma
    1
    1. ClingenBaseline 30 Oct 2026

      GroupID: 4339

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Each group represents a family.

      GroupPresentingHPOs: HP:0010797; HP:0002666; HP:0005584; HP:0009711 (Hemangioblastoma, Pheochromocytoma, Renal cell carcinoma, Retinal capillary hemangioma)

      GroupHPOFreeText: 1/4 members with pheochromocytoma, 1/4 members with CNS hemangioblastoma, 4/4 with renal carcinoma, 1/4 with retinal angioma and 1/4 with cysts. Diagnosed as a VHL Type 2B family.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R176Gfs*26 (c.526del)

      LegacyVariant: c.739delA

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625257, https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as 739 del A (Frameshift), assumed to be reported in legacy nomenclature (AF010238.1) and mapped to c.526del, p.Arg176Glyfs*26 (NM_000551.3).

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: R176Gfs*26 (c.526del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pheochromocytoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:526 ProteinPosition:176 AminoAcidChange:ARGtoGLY ClinVarID:625257 ClinVarID:Yes MutationType:deletion MutationType:minus_1_frameshift_variant CivicName:R176Gfs*26(c.526del) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10458336/