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    Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting
    1
    1. ClingenBaseline 14 Nov 2026
      VHL 27), stop-gain

      PatientID: NHP0000000944

      KindredID: 1

      Case: Sex Unknown, 46Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: No family information reported.

      CasePresentingHPOs: HP:0000822; HP:0008256 (hypertension, adrenocortical adenoma)

      CaseHPOFreeText: Age of onset for patient was 46Y0M with a 20 year history of hypertension and right adrenal adenoma (Table S8 and S10).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: NF1, RET, TMEM127, SDHA/SDHB/SDHC/SDHD/SDHAF2

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 8 and 10.

      Variant: p.W8* (c.23G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 411960, https://www.ncbi.nlm.nih.gov/clinvar/variation/411960/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W8* (c.23G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenocorticaladenoma CivicName:W8*(c.23G>A) cDNAPosition:23 ProteinPosition:8 AminoAcidChange:TRPtoTER ClinVarID:Yes ClinVarID:411960 SupplementalData PreviousTesting:NF1/RET/TMEM127/SDHA/SDHB/SDHC/SDHD/SDHAF2 NoFamilyInfo Ethnicity:Chinese inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jmg.bmj.com/content/57/8/571