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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes
    1
    1. ClingenBaseline 12 Nov 2026

      PatientID: 8

      KindredID: 9

      Case: 43Y0M, Sex and Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Recorded as a familial tumor; no other family info present

      CasePresentingHPOs: HP:0002666; HP:0002668 (Pheochromocytoma; Paraganglioma)

      CaseHPOFreeText: Left Pheochromocytoma and right paragangliomas were reported with an age at diagnosis of 43 years of age.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:paraganglioma DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:43 AgeOfPresentation:paraganglioma:43 Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes PreviousTesting:RET PreviousTesting:SDHB PreviousTesting:SDHD PreviousTesting:SDHC Familial MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1735500/