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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
    1
    1. ClingenBaseline 22 Oct 2026

      PatientID: 1

      KindredID: 26

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: one cerebellar hemangioblastoma was detected in this patient

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V170F (c.508G>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.V170F (c.721G>T)

      ClinVarID: N/A

      CAID: CA351756193 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.508G%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V170F (c.508G>T)

      MultipleGeneVariants: VHL, Somatic, c.576del13 (p.Asn193Met*9)

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma InheritancePattern:AutosomalDominant NoFamilyInfo Mutation:Germline RefSeq:AF010238.1 cDNAposition:508 ProteinPosition:170 CivicName:V170F(c.508G>T) AminoAcidChange:VALtoPHE MutationType:missense_variant;transversion CAID:CA351756193 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1712486/