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  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
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    link.springer.com/article/10.1007/s004390050206