2 Matching Annotations
  1. Last 7 days
  2. 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 03 Nov 2026

      GroupID/ KindredID: VHL 44

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: German

      GroupAgeRange: N/A

      GroupInfo: 2 patients with the given mutation belonging to VHL family 44

      GroupPresentingHPOs: HP:0010797; HP:0005584; HP:0000107; HP:0001737; HP:0009715; HP:0012028 (hemangioblastoma, renal cell carcinoma, renal cyst, pancreatic cysts, Hepatic adenoma)

      GroupHPOFreeText: both patients had hemangioblastomas, renal cell carcinomas, renal cysts, and pancreatic cysts. Hepatic adenoma was also listed as an additional complication

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129fs*30 (c.384delT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L129fs*30 (c.597delT)

      ClinVarID: N/A

      CAID: CA70049452 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: L129fs (c.384delT)

      MultipleGeneVariants: N/A

      Ethnicity:German Mutation:Germline DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:hepaticadenoma RefSeq:AF010238.1 ProteinPosition:129 cDNAposition:384 CivicName:L129fs(c.384delT) AminoAcidChange:LEUtoTRP MutationType:minus_1_frameshift_variant InheritancePattern:AutosomalDominant Familial FamilyCohort CAID:CA70049452 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s004390050206
  3. jnnp.bmj.com jnnp.bmj.com
    The impact of molecular genetic analysis of theVHL gene in patients with haemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 03 Nov 2026
      nt 597 Del. T 128 FS 597delT Frameshift 1

      PatientID: 21

      GroupID/ KindredID: 21

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: other phenotypes unknown.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129W*30 (c.384delT)

      LegacyVariant: (c.597delT)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049452 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: L129fs (c.384delT)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:N/A CAID:CA70049452 NoFamilyInfo ProteinPosition:129 cDNAposition:384 MutationType:minus_1_frameshift_variant AminoAcidChange:LEUtoTRP CivicName:L129fs(c.384delT) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf