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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease
    1
    1. ClingenBaseline 24 Oct 2026
      645 G insertion

      PatientID: cousin 1

      KindredID: B

      Case: M, 35Y0M, Chinese

      DiseaseAssertion: assumed VHL

      FamilyInfo: Family history is positive. A total of 7 members were genetically tested for this mutation. 5 were asymptomatic and non-VHL (no mutation was found). This patient's cousin also had HB and the mutation was found in them.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Patient had multiple hemangioblastoma of the CNS diagnosed at 35Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q145Tfs*29(c.431dup)

      LegacyVariant: p.Q145Tfs*29 (c.645insG)

      CaseProblemVariantFreeText: AF010238.1:c.645insG translates to an updates NM_000551.3:c.432_433insG; or c.431dupG

      ClinVarID: N/A

      CAID: CA2573106040 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573106040

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant; duplication

      CivicName: Q145fs (c.431dup)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese AssumedRefSeq:AF010238.1 Mutation:Germline DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:35 MutationType:duplication MutationType:plus_1_frameshift_variant CivicName:Q145fs(c.431dup) CAID:CA2573106040 ClinVarID:N/A cDNAposition:431 ProteinPosition:145 AminoAcidChange:GLNtoTHR Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21972040/