3 Matching Annotations
  1. Last 7 days
  2. www-karger-com.myaccess.library.utoronto.ca www-karger-com.myaccess.library.utoronto.ca
    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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    www-karger-com.myaccess.library.utoronto.ca/Article/Abstract/333348
  3. 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