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    Prevalence and Spectrum of SDHx Mutations in Pheochromocytoma and Paraganglioma in Patients from Belgium: An Update
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    1. ClingenBaseline 25 Oct 2026
      The second, H125Y – previously unreported – was associated with the presence of a right pneumogastric nerve PGL diagnosed at 49 years.

      PatientID: N/A

      KindredID: 2

      Case: Sex Unknown, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: Paraganglioma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002668 (Paraganglioma)

      CaseHPOFreeText: right pneumogastric nerve paraganglioma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: SDHD/SDHB/SDHC

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H125Y (c.373C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 411970 https://www.ncbi.nlm.nih.gov/clinvar/variation/411970/

      CAID: N/A

      gnomAD: 0.00001193 https://gnomad.broadinstitute.org/variant/3-10188230-C-T

      VariantEvidence: N/A

      MutationType: missense_transition

      CivicName: H125Y (c.373C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:paraganglioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:373 ProteinPosition:125 AminoAcidChange:HIStoTYR ClinVarID:411970 MutationType:missense_variant;transition CivicName:H125Y(c.373C>T) AgeOfPresentation:paraganglioma:49 ClinVarID:Yes PreviousTesting:SDHD/SDHB/SDHC NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    www-thieme-connect-de.myaccess.library.utoronto.ca/products/ejournals/html/10.1055/s-0032-1311610