4 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: 3708NCI

      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 National Cancer Institute database, with an unknown number of members belonging to Family ID 3708NCI. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

      GroupHPOFreeText: Described as a VHL family with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7728151

      SupplementalData: N/A

      Variant: p.L184P (c.551T>C)

      LegacyVariant: p.L184P (c.764T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 419447 https://www.ncbi.nlm.nih.gov/clinvar/variation/419447/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by location between codons 157 and 189.

      MutationType: missense_variant; transition

      CivicName: L184P (c.551T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma cDNAposition:551 CivicName:L184P(c.551T>C) AminoAcidChange:LEUtoPRO ProteinPosition:184 MutationType:missense_variant;transition ClinVarID:419447 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. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 02 Nov 2026

      GroupID: 3708

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 2 family members recorded with this mutation.

      GroupPresentingHPOs: HP:0010797; HP:0005584 (hemangioblastoma, renal cell carcinoma)

      GroupHPOFreeText: both (2) members has RCC and 1 member had hemangioblastoma

      GroupNotHPOs: HP:0009711; HP:0002666 (retinal capillary hemangioma, pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 8956040

      SupplementalData: N/A

      Variant: p.L184P (c.551T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L255P (c.764T>C)

      ClinVarID: 419447 https://www.ncbi.nlm.nih.gov/clinvar/variation/419447/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L184P (c.551T>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 CivicName:L184P(c.551T>C) cDNAposition:551 ProteinPosition:184 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition Familial FamilyCohort ClinVarID:Yes ClinVarID:419447 InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. ClingenBaseline 01 Nov 2026

      GroupID/ KindredID: F43

      Case: Sex unknown, 27Y0M, Spanish

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial antecedents found; unknown of any additional features to index case relatives

      CasePresentingHPOs: HP:0009711; HP:0009713; HP:0006880; HP:0000107; HP:0001737 (retinal capillary hemangioma, spinal hemangioblastoma, cerebellar hemangioblastoma, renal cysts, pancreatic cysts)

      CaseHPOFreeText: Development of Broad ligament cysts were also observed. Age of onset is 27Y0M.

      CaseNotHPOs: HP:0002666; HP:0006770 (pheochromocytoma, clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L184P (c.551T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 419447 https://www.ncbi.nlm.nih.gov/clinvar/variation/419447/

      CAID: N/A

      gnomAD: https://www.ncbi.nlm.nih.gov/clinvar/variation/411977/

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L184P (c.551T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Spanish Familial RefSeq:AF010238.1 DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma cDNAposition:551 ProteinPosition:184 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition CivicName:L184P(c.551T>C) ClinVarID:419447 ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309
  5. Oct 2026
  6. onlinelibrary-wiley-com.myaccess.library.utoronto.ca onlinelibrary-wiley-com.myaccess.library.utoronto.ca
    Somatic mutations of von Hippel-Lindau (VHL) tumor-suppressor gene in european kidney cancers
    1
    1. ClingenBaseline 28 Oct 2026

      PatientID: 3087

      KindredID: 1

      Case: M, 68Y0M, Ethnicity Unknown

      DiseaseAssertion: Clear cell renal cell carcinoma

      FamilyInfo: N/A

      GroupInfo: Renal cell carcinomas from 31 patients (22 of which were confirmed clear cell renal cell carcinoma) were obtained from the CentreLeon Berard (Lyon, France) and were analyzed for mutations in the VHL gene.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: Metastatic tumor at time of nephrectomy. See table 1 for more patient-specific information.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L184P (c.551T>C)

      LegacyVariant: c.764T>C

      CaseProblemVariantFreeText: N/A

      ClinVarID: 419447, https://www.ncbi.nlm.nih.gov/clinvar/variation/419447/

      CAID: CA16617792

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L184P (c.551T>C)

      MultipleGeneVariants: Germline, VHL, c.183C>G (p.P61=)

      ProteinPosition:184 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition CivicName:L184P(c.551T>C) MultipleVHLVariants cDNAposition:551 DiseaseEntity:renalcellcarcinoma DiseaseEntity:clearcellrenalcellcarcinoma RefSeq:AF010238.1 ClinVarID:419447 CAiD:CA16617792 NoFamilyInfo ClinVarID:Yes Mutation:Somatic inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.myaccess.library.utoronto.ca/doi/abs/10.1002/ijc.2910630510