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    Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
    1
    1. ClingenBaseline 25 Oct 2026
      8 M/34 PGL VHL 1 c.308C>T (p.Pro103Leu) Post-NGS Targeted NGS LP Pancreas 4.2 Metastatic No Incidental Silent

      PatientID: 28

      KindredID: 28

      Case: M, 34Y0M, Korean

      DiseaseAssertion: Paraganglioma

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: The patient presented with paraganglioma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P103L (c.308C>T))

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1488386, https://www.ncbi.nlm.nih.gov/clinvar/variation/1488386/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P103L (c.308C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition Ethnicity:Korean AssumedRefSeq:NM_000551.3 ClinVarID:Yes ClinVarID:1488386 DiseaseEntity:paraganglioma AgeOfPresentation:paraganglioma:34 CivicName:P103L(c.308C>T) cDNAPosition:308 ProteinPosition:103 AminoAcidChange:PROtoLEU PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD NoFamilyInfo inferred_gene_hgnc:44 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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