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  2. pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    1
    1. ClingenBaseline 10 Nov 2026

      PatientID: V287

      KindredID: V287

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N67_V74del (c.198_221del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA645524685, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.198_221del

      gnomAD: N/A

      VariantEvidence: Variant was reported as c.197del24 which was mapped to c.198_221del.

      MutationType: inframe_deletion; deletion

      CivicName: N67_V74del (c.198_221del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:198 ProteinPosition:67 AminoAcidChange:ASNtoILE ClinVarID:N/A CAID:CA645524685 MutationType:inframe_deletion CivicName:N67_V74del(c.198_221del) NoFamilyInfo MutationType:deletion inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca/9829912/