8 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. academic-oup-com.proxy1.lib.uwo.ca academic-oup-com.proxy1.lib.uwo.ca
    Hemangioblastomas and Neurogenic Polyglobulia
    1
    1. ClingenBaseline 31 Oct 2026

      PatientID: 2

      KindredID: 2

      Case: M, 53Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006880; HP:0000107 (Cerebellar hemangioblastoma, Renal cyst)

      CaseHPOFreeText: Cerebellum hemangioblastoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S183* (c.548C>A)

      LegacyVariant: c.761C>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2215, https://www.ncbi.nlm.nih.gov/clinvar/variation/2215/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Preoperative hemoglobin: 17.9. Postoperative hemoglobin: 15.1.

      MutationType: stop_gained; missense_variant;transversion

      CivicName: S183* (c.548C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcyst AgeOfPresentation:cerebellarhemangioblastoma:53 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:548 ProteinPosition:183 AminoAcidChange:SERtoTER ClinVarID:2215 ClinVarID:Yes MutationType:stop_gained MutationType:missense_variant;transversion CivicName:S183*(c.548C>A) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic-oup-com.proxy1.lib.uwo.ca/neurosurgery/article/72/6/930/2417731
  5. Oct 2026
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
    1
    1. ClingenBaseline 29 Oct 2026
      PMID: 7977367

      KindredID: 19

      DiseaseAssertion: VHL

      GroupSize: Unknown

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This is a family belonging to prefigure No. 19. They are described as ‘VHL-affected’.

      GroupPresentingHPOs: HP:0005584 (renal cell carcinoma)

      GroupHPOFreeText: RCC-affected; other manifestations are possible but not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65* (c.189_192del)

      LegacyVariant: p.136fs* (c.402_405del4)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223205 https://www.ncbi.nlm.nih.gov/clinvar/variation/223205/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: minus_1_frameshift; stop_gained

      CivicName: S65* (c.189_192del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma ProteinPosition:65 AminoAcidChange:SERtoTER CivicName:S65*(c.189_192del) MutationType:stop_gained ClinVarID:223205 ClinVarID:Yes Familial MutationType:deletion cDNAposition:189 cDNAposition:192 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7977367/
  7. link.springer.com link.springer.com
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1
    1. ClingenBaseline 28 Oct 2026

      GroupID/ KindredID: VHL 6

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Italian

      GroupAgeRange: N/A

      GroupInfo: 3 patients with the given mutation belonging to VHL family 6

      GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0000107; HP:0005584; HP:0001737 (retinal capillary hemangioma, hemangioblastoma, renal cyst, renal cell carcinoma, pancreatic cysts)

      GroupHPOFreeText: all 3 patients have pancreatic cysts, 2 had retinal capillary hemangiomas, hemangioblastoma, and renal cysts, and 1 had RCC

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S183* (c.548C>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.S183* (c.761C>A)

      ClinVarID: 2215 https://www.ncbi.nlm.nih.gov/clinvar/variation/2215/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: S183* (c.548C>A)

      MultipleGeneVariants: N/A

      Ethnicity:Italian DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts Mutation:Germline RefSeq:AF010238.1 CivicName:S183*(c.548C>A) cDNAposition:548 ProteinPosition:183 AminoAcidChange:SERtoTER MutationType:stop_gained ClinVarID:2215 ClinVarID:Yes Familial FamilyCohort InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206
  8. 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
  9. erc.bioscientifica.com erc.bioscientifica.com
    Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
    2
    1. ClingenBaseline 24 Oct 2026
      c.548 C>Aap.S183X

      GroupID: 27B

      DiseaseAssertion: Unknown. Patients were pulled from either the VHL-Registry or NET-Registry and recorded with the given mutation. Symptoms or manifestations are not clear.

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 4 patients with the given mutation were grouped as group 27(B) in this study. These patients were asymptomatic or unclear of symptoms.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: N/A

      GroupNotHPOs: HP:0030405 (pancreatic endocrine tumor)

      GroupNotHPOFreeText: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S183* (c.548C>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2215 https://www.ncbi.nlm.nih.gov/clinvar/variation/2215/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: S183* (c.548C>A)

      MultipleGeneVariants: N/A

      RefSeq:NM_000551.2 NoFamilyInfo Mutation:Germline ClinVarID:2215 ClinVarID:Yes CivicName:S183*(c.548C>A) cDNAposition:548 AminoAcidChange:SERtoTER MutationType:stop_gained ProteinPosition:183 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      c.548 C>Aap.S183X

      GroupID: 27A

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: None. The patient with the given mutation in this study was a VHL patient with pancreatic ICTs.

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: Patient has islet cell tumors (ICTs), or listed as pancreatic endocrine tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S183* (c.548C>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2215 https://www.ncbi.nlm.nih.gov/clinvar/variation/2215/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: S183* (c.548C>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor RefSeq:NM_000551.2 Mutation:Germline NoFamilyInfo ClinVarID:2215 ClinVarID:Yes ProteinPosition:183 CivicName:S183*(c.548C>A) cDNAposition:548 AminoAcidChange:SERtoTER MutationType:stop_gained inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/17/4/875.xml