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  2. link.springer.com link.springer.com
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1
    1. ClingenBaseline 25 Oct 2026

      GroupID/ KindredID: VHL 65

      Case: Sex unknown, Age unknown, Iranian

      DiseaseAssertion: assumed VHL

      FamilyInfo: One patient with the given mutation is stated to belong to VHL family 65

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0001737; HP:0000107; HP:0005584; HP:0008261 (retinal capillary hemangioma, hemangioblastoma, pancreatic cysts, renal cyst, renal cell carcinoma, pancreatic islet cell adenoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164* (c.490C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.Q164* (c.703C>T)

      ClinVarID: 223228 https://www.ncbi.nlm.nih.gov/clinvar/variation/223228/

      CAID: CA357060 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.490C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q164* (c.490C>T)

      MultipleGeneVariants: N/A

      Ethnicity:Iranian Mutation:Germline DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticisletcelladenoma DiseaseEntity:VHL Familial AminoAcidChange:GLNtoTER ProteinPosition:164 MutationType:stop_gained CivicName:Q164*(c.490C>T) cDNAposition:490 ClinVarID:223228 CAID:CA357060 ClinVarID:Yes InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206