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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population
    1
    1. ClingenBaseline 03 Nov 2026

      PatientID: 351

      KindredID: 351

      Case: Sex Unknown, 40Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history noted but no details provided.

      CasePresentingHPOs: HP:0010797; HP:0000107 (Hemangioblastoma, Renal cyst)

      CaseHPOFreeText: CNS hemangioblastoma and renal cystic lesion.

      CaseNotHPOs: HP:0009711; HP:0006770; HP:0002666; HP:0001732 (Retinal capillary hemangioma, Clear cell renal cell carcinoma, Pheochromocytoma, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 19464396

      SupplementalData: Table S1, S2 and S3

      Variant: p.I109Tfs*50 (c.326del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA658820709, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.326del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: I109fs (c.326delT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst Mutation:Germline RefSeq:NM_000551.3 cDNAposition:326 ProteinPosition:109 AminoAcidChange:ILEtoTHR ClinVarID:N/A CAID:CA658820709 MutationType:minus_1_frameshift_variant MutationType:deletion CivicName:I109fs(c.326delT) Familial NoFamilyInfo SupplementalData ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/