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  1. Last 7 days
  2. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    Germline mutations and genotype–phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea
    1
    1. ClingenBaseline 25 Oct 2026
      Case 3 VHL 16 Female PHEO 2.5 None None Recurred NE/NM Exon 1 c.242C>T p.Pro81Leu Missense

      PatientID: 3

      KindredID: 3

      Case: F, 16Y0M, Korean

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: No family history of PPGLs

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: recurrent PPGL - initially removed at 2.5cm; no metastases; increased NE/NM hormone levels

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P81L (c.242C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36899 https://www.ncbi.nlm.nih.gov/clinvar/variation/36899/

      CAID: N/A

      gnomAD: 0.000004349 https://gnomad.broadinstitute.org/variant/3-10183773-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P81L (c.242C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:81 CivicName:P81L(c.242C>T) cDNAposition:242 MutationType:missense_variant;transition AminoAcidChange:PROtoLEU ClinVarID:36899 ClinVarID:Yes NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1111/cge.12304
  3. erc.bioscientifica.com erc.bioscientifica.com
    Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients
    1
    1. ClingenBaseline 25 Oct 2026
      VHL1c.242C>Tp.Pro81Leu1RCB c

      PatientID: N/A

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: paraganglioma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: Paraganglioma of the head and neck region (HNPGL): Right carotid body; nonsecreting paraganglioma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P81L (c.242C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36899 https://www.ncbi.nlm.nih.gov/clinvar/variation/36899

      CAID: N/A

      gnomAD: 0.000004349 https://gnomad.broadinstitute.org/variant/3-10183773-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P81L (c.242C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:paraganglioma CivicName:P81L(c.242C>T) cDNAposition:242 ProteinPosition:81 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition ClinVarID:36899 ClinVarID:Yes NoFamilyInfo AssumedRefSeq:NM_000551.3 PreviousTesting:MAX/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/19/2/149.xml