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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 01 Nov 2026

      PatientID: V313

      KindredID: V313

      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: c.340+1_340+5del

      LegacyVariant: IVS1+1del5

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357098, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340%2B1_340%2B5del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; deletion; minus_2_frameshift_variant

      CivicName: Splice Region (c.340+1_340+5del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A CAID:CA357098 MutationType:splice_site_variant MutationType:deletion MutationType:minus_2_frameshift_variant CivicName:SpliceRegion(c.340+1_340+5del) NoFamilyInfo 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/