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    Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease
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    1. ClingenBaseline 31 Oct 2026
      Table 1

      PatientID: N/A

      KindredID: 23

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Family history not mentioned. Patient’s variant reported as germline.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Patient had CNS-HB; other phenotype unknown (see table 1).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 10567493

      SupplementalData: N/A

      Variant: p.I151T (c.452T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428803, www.ncbi.nlm.nih.gov/clinvar/variation/428803/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: I151T (c.452T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition DiseaseEntity:hemangioblastoma AssumedRefSeq:NM_000551.3 cDNAposition:452 ProteinPosition:151 CivicName:I151T(c.452T>C) ClinVarID:Yes ClinVarID:428803 NoFamilyInfo AminoAcidChange:ILEtoTHR inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/abs/pii/S2210776220301460