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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma
    1
    1. ClingenBaseline 27 Oct 2026
      Patients: Two generations of a family consisting of 15 individuals were studied.

      PatientID: II:1

      KindredID: 1

      Case: M, 49Y0M, Spanish

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: Spanish family of 15 members studied, over 2 generations. 6 members had VHL presentations, 1 was a carrier, and 4 others had the mutation, while 2 were not sequenced. This patient’s 3 children showed VHL phenotypes, and his sister and 2 nieces presented with the VHL mutation.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: first studied at 45Y, the patient had bilateral accumulation of pheo tumors, right: 9cm and left: 2cm

      CaseNotHPOs: HP:0006880; HP:0009711 (cerebellar hemangioblastoma, retinal capillary hemangioma)

      CaseNotHPOFreeText: Brain MRI and CT-scans were normal, and no signs of retinal angiomas were present.

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      LegacyVariant: p.R238T, C>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Spanish DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:45 Mutation:Germline AssumedRefSeq:AF010238.1 Familial FamilyPedigree CivicName:R167W(c.499C>T) cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP MutationType:missense_variant;transition ClinVarID:2218 ClinVarID:Yes PreviousTesting:RET inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9156047/