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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
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    1. ClingenBaseline 24 Oct 2026

      PatientID: V89

      KindredID: V89

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Diagnosed with VHL Type 2B.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G106Tfs*54 (c.315_316insAC)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573130208, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.315_316insAC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: insertion; plus_2_frameshift_variant

      CivicName: G106Tfs*54 (c.315_316insAC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:315 ProteinPosition:106 AminoAcidChange:GLYtoTHR ClinVarID:N/A CAID:CA2573130208 MutationType:insertion MutationType:plus_2_frameshift_variant CivicName:G106Tfs*54(c.315_316insAC) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829912/