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  2. academic-oup-com.proxy1.lib.uwo.ca academic-oup-com.proxy1.lib.uwo.ca
    Hemangioblastomas and Neurogenic Polyglobulia
    1
    1. ClingenBaseline 01 Nov 2026

      PatientID: 3

      KindredID: 3

      Case: M, 47Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: The patient had a hemangioblastoma in the brainstem (cerebellopontine angle) and had high-normal Hb level (18.3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: p.R161* (c.694C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID:2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: CA020408 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.481C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:47 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:481 ProteinPosition:161 MutationType:stop_gained CAID:CA020408 ClinVarID:2217 NoFamilyInfo CivicName:R161*(c.481C>T) ClinVarID:Yes AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic-oup-com.proxy1.lib.uwo.ca/neurosurgery/article/72/6/930/2417731