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  2. www.sciencedirect.com www.sciencedirect.com
    Plasma proteome profiling of von Hippel-Lindau disease after total and subtotal nephrectomy: A preliminary study
    2
    1. ClingenBaseline 21 Oct 2026
      A 37-year-old woman and 78-year-old man who were daughter and father, respectively, and had multiple cysts in both kidneys, were enrolled in this study. In addition, a 28-year-old healthy male subject was enrolled as a normal control. The study was in accordance with the ethical standards as formulated in the Helsinki Declaration of 1975 (revised in 1983). Both patients had c.349T>A mutation (p.Trp117Arg) in exon 2 of the VHL gene. Histopathological examination revealed clear cell type renal

      PatientID: None (father)

      KindredID: 1

      Case: M, 78Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 37Y old daughter had multiple cysts (RCC) in both kidneys and the same (c.349T>A) mutation

      CasePresentingHPOs: HP:0000107; HP:0005584; HP:0006770 (renal cysts; renal cell carcinoma, clear cell renal cell carcinoma)

      CaseHPOFreeText: VHL patient underwent left nephrectomy and right partial nephrectomy (subtotal nephrectomy). Histopathological examination revealed clear cell type renal cell carcinoma (RCC)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W117R (c.349T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753664 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.349T%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: W117R (c.349T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:clearcellrenalcellcarcinoma AssumedRefSeq:NM_000551.3 Mutation:Germline cDNAposition:349 ProteinPosition:117 CivicName:W117R(c.349T>A) AminoAcidChange:TRPtoARG MutationType:missense_variant;transversion CAID:CA351753664 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      A 37-year-old woman and 78-year-old man who were daughter and father, respectively, and had multiple cysts in both kidneys, were enrolled in this study. In addition, a 28-year-old healthy male subject was enrolled as a normal control. The study was in accordance with the ethical standards as formulated in the Helsinki Declaration of 1975 (revised in 1983). Both patients had c.349T>A mutation (p.Trp117Arg) in exon 2 of the VHL gene. Histopathological examination revealed clear cell type renal

      PatientID: None (father)

      KindredID: 1

      Case: M, 78Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 37Y old daughter had multiple cysts (RCC) in both kidneys and the same (c.349T>A) mutation

      CasePresentingHPOs: HP:0000107; HP:0005584; HP:0006770 (renal cysts; renal cell carcinoma, clear cell renal cell carcinoma)

      CaseHPOFreeText: VHL patient underwent left nephrectomy and right partial nephrectomy (subtotal nephrectomy). Histopathological examination revealed clear cell type renal cell carcinoma (RCC)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W117R (c.349T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753664 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.349T%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: W117R (c.349T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:clearcellrenalcellcarcinoma AssumedRefSeq:NM_000551.3 Mutation:Germline cDNAposition:349 ProteinPosition:117 CivicName:W117R(c.349T>A) AminoAcidChange:TRPtoARG MutationType:missense_variant;transversion CAID:CA351753664 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    sciencedirect.com/science/article/abs/pii/S0009912009003531