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    Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease
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    1. ClingenBaseline 25 Oct 2026
      unilateral PHEOs (Fig. 1a): her father (II:1) at age 73, her 34-year-old brother (III:2)

      PatientID: III:2

      KindredID: 1

      Case: M, 34Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Look to proband (III:3) for extensive family info.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666; HP:0000107 (Pheochromocytoma, Renal cyst)

      CaseHPOFreeText: Unilateral pheochromocytoma diagnosed at age 34.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:renalcyst AgeOfPresentation:pheochromocytoma:34 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition FamilyPedigree Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6660912/