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  2. nyaspubs.onlinelibrary.wiley.com nyaspubs.onlinelibrary.wiley.com
    Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients
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    1. ClingenBaseline 29 Oct 2026
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      PatientID: 10

      KindredID: 10

      Case: Sex Unknown, 35Y0M, Italian

      DiseaseAssertion: paraganglioma

      FamilyInfo: None - said NOT to have a positive family history. Apparently sporadic

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: left para-adrenal PGL with an age of first diagnosis of 35Y

      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:Italian DiseaseEntity:paraganglioma AgeOfPresentation:paraganglioma:35 Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:81 cDNAposition:242 MutationType:missense_variant;transition AminoAcidChange:PROtoLEU ClinVarID:36899 ClinVarID:Yes CivicName:P81L(c.242C>T) NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nyaspubs.onlinelibrary.wiley.com/doi/abs/10.1196/annals.1353.016