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    Sequence Variations in the von Hippel–Lindau Tumor Suppressor Gene in Patients with Intracranial Aneurysms
    1
    1. ClingenBaseline 22 Oct 2026
      c.463 + 8C > T (intron 2)

      PatientID: None

      KindredID: 6

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: dilatation of the cerebral artery

      FamilyInfo: None

      CasePresentingHPOs: HP:0004944 (dilatation of the cerebral artery)

      CaseHPOFreeText: Patient had an intracranial aneurysm

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+8C>T

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 127830 https://www.ncbi.nlm.nih.gov/clinvar/variation/127830/

      CAID: N/A

      gnomAD: 0.0005055 https://gnomad.broadinstitute.org/variant/3-10188328-C-T

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Region (c.463+8C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:dilatationofthecerebralartery Mutation:Germline RefSeq:NM_000551.2 cDNAposition:463 ClinVarID:127830 ClinVarID:Yes MutationType:splice_site_variant NoFamilyInfo CivicName:SpliceRegion(c.463+8C>T) ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S1052305713000220