3 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 03 Nov 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 12BMS

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the Bristol Myers Squibb database, with an unknown number of members belonging to family ID: Family 12BMS. Table 5 lists all ID and mutations associated with individuals without detailed clinical information.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Described as multiple VHL families without detailed clinical information. Other phenotypes are possible, however not detailed here.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65* (c.194C>A)

      LegacyVariant: p.S65* (c.407C>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223161 https://www.ncbi.nlm.nih.gov/clinvar/variation/223161/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by truncating the protein.

      MutationType: stop_gained

      CivicName: S65* (c.194C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:VHL cDNAposition:194 CivicName:S65*(c.194C>A) ProteinPosition:65 AminoAcidChange:SERtoTER MutationType:stop_gained ClinVarID:223161 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
    1
    1. ClingenBaseline 31 Oct 2026

      GroupID: 80

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: VHL family found to have a germline rearrangement of the VHL gene. The number of family members included in this study is not specified.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease, however, the presenting phenotypes were not specified.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65* (c.194C>A)

      LegacyVariant: c.407C>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223161, https://www.ncbi.nlm.nih.gov/clinvar/variation/223161/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion; stop_gained

      CivicName: S65* (c.194C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:194 ProteinPosition:65 AminoAcidChange:SERtoTER ClinVarID:Yes ClinVarID:223161 MutationType:missense_variant;transversion MutationType:stop_gained CivicName:S65*(c.194C>A) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829911/
  4. Oct 2026
  5. www.karger.com www.karger.com
    Growth Kinetics in Von Hippel-Lindau-Associated Renal Cell Carcinoma
    1
    1. ClingenBaseline 27 Oct 2026

      PatientID: 5

      KindredID: N/A

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: The authors evaluated 64 VHL patients (32 women and 32 men) with renal involvement of whom 54/64 had undergone renal surgery or a radiofrequency thermal ablation procedure for RCC. In 10/64 VHL patients, at least one or more RCC were diagnosed, however at the time of diagnosis an indication for treatment was not yet present. For all patients several CT/MRI scans existed for retrospective description of tumour growth kinetics.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: This is a tumor resolution study (VHL patients were investigated based on the presence of renal tumors.) No other phenotypic information is available.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S2 describes 9 patients with nonsense mutations, including this patient.

      Variant: p.S65* (c.194C>A)

      LegacyVariant: c.407C>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223161, https://www.ncbi.nlm.nih.gov/clinvar/variation/223161/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: S65* (c.194C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:194 ProteinPosition:65 AminoAcidChange:SERtoTER ClinVarID:223161 CivicName:S65*(c.194C>A) NoFamilyInfo SupplementalData ClinVarID:Yes MutationType:stop_gained inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    karger.com/Article/Abstract/333348