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    Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
    1
    1. ClingenBaseline 30 Oct 2026
      333C>G

      GroupID/ KindredID: 12

      Case: Age unknown, Sex unknown, Polish

      DiseaseAssertion: VHL

      FamilyInfo: This mutation was found in Family No. 12 with 1 member affected. There was no family history of VHL, however the parents were not tested (No confirmed de novo)

      CasePresentingHPOs: HP:0009711; HP:0010797 (retinal capillary hemangioma, hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584 (renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S111R (c.333C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223187 https://www.ncbi.nlm.nih.gov/clinvar/variation/223187/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S111R (c.333C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Ethnicity:Polish Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:111 cDNAposition:333 MutationType:missense_variant;transversion CivicName:S111R(c.333C>G) AminoAcidChange:SERtoARG ClinVarID:223187 ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jmg.bmj.com/content/39/7/e38