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  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
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    1. ClingenBaseline 22 Oct 2026

      GroupID: 4783

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Each group represents a family.

      GroupPresentingHPOs: HP:0002666; HP:0009711; HP:0030405 (Pheochromocytoma, Retinal capillary hemangioma, Pancreatic endocrine tumor)

      GroupHPOFreeText: 3/3 members with pheochromocytoma, 1/3 members with retinal angioma, Diagnosed as a VHL Type 2B family. Localized pancreatic neuroendocrine tumor is also associated with this family but the number of family members affected is not specified.

      GroupNotHPOs: HP:0010797; HP:0005584 (Hemangioblastoma, Renal cell carcinoma)

      GroupNotHPOFreeText: No CNS hemangioblastoma, RCC or cyst presentations.

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L128F (c.382C>T)

      LegacyVariant: c.595C>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496060, https://www.ncbi.nlm.nih.gov/clinvar/variation/496060/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as 595, C to T (Leu to Phe), assumed to be reported in legacy nomenclature (AF010238.1) and mapped to c.382C>T, p.Leu128Phe (NM_000551.3).

      MutationType: missense_variant;transition

      CivicName: L128F (c.382C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:382 ProteinPosition:128 AminoAcidChange:LEUtoPHE ClinVarID:496060 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L128F(c.382C>T) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10458336/