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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas
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    1. ClingenBaseline 04 Nov 2026
      PMID: 19399650

      PatientID: P34

      KindredID: 1

      Case: M, 20Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: diagnosed at the age of 20 years with VHL and presented with severe hypertension and a 40 mm PC of the right adrenal gland (pheochromocytoma)

      CaseNotHPOs: No positive family history

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: SDHB/ SDHD/ RET/ MEN2

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L188P (c.563T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625266 https://www.ncbi.nlm.nih.gov/clinvar/variation/625266/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: also the polymorphism S69S of the SDHD gene.

      MutationType: missense_variant;transition

      CivicName: L188P (c.563T>C)

      MultipleGeneVariants: Germline, SDHD, (p.Ser69Ser)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:563 CivicName:L188P(c.563T>C) ProteinPosition:188 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition MultipleGeneVariants PreviousTesting:MEN2/RET/SDHB/SDHD ClinVarID:625266 ClinVarID:Yes NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/19399650/