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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
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    1. ClingenBaseline 10 Nov 2026

      GroupID/ KindredID: VHL 57

      Case: Sex unknown, Age unknown, German

      DiseaseAssertion: assumed VHL

      FamilyInfo: One patient with the given mutation is stated to belong to VHL family 57

      CasePresentingHPOs: HP:0010797; HP:0000107; HP:0001737 (hemangioblastoma, renal cyst, pancreatic cysts)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.464-2A>T

      CaseProblemVariantFreeText: N/A

      LegacyVariant: c.677-2A>T

      ClinVarID: N/A

      CAID: CA70052157 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.464-2A%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.464-2A>T)

      MultipleGeneVariants: N/A

      Ethnicity:German Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts NoFamilyInfo InheritancePattern:AutosomalDominant ClinVarID:N/A CAID:CA70052157 MutationType:splice_site_variant cDNAposition:464 CivicName:SpliceSite(c.464-2A>T) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206