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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease
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    1. ClingenBaseline 11 Nov 2026
      PMID: 23143947

      PatientID: DIII8

      KindredID: D

      Case: M, 12Y0M, Chinese

      DiseaseAssertion: kidney disease

      FamilyInfo: A 3-generation family is given with 3 confirmed members with this mutation. 2 other members had VHL-presenations however had not been tested for the gene.

      CasePresentingHPOs: HP:0012210 (abnormal renal morphology)

      CaseHPOFreeText: initially diagnosed by genetic analysis and further verified radiologically, to be found with “kidney disease” at 12Y.

      CaseNotHPOs: HP:0010797; HP:0002666; HP:0009711; HP:0001737 (hemangioblastoma, pheochromocytoma, retinal capillary hemangioma, pancreatic cysts)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.226_228delTTC)

      LegacyVariant: p.F76del (c.439delTCT)

      CaseProblemVariantFreeText: NM_000551.3:c.226_228delTTC automaps to NM_000551.3:c.227_229delTCT

      ClinVarID: N/A

      CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.226_228delTTC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_2289delTCT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:abnormalrenalmorphology AgeOfPresentation:abnormalrenalmorphology:12 Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:F76del(c.227_229delTCT) cDNAposition:227 cDNAposition:229 ProteinPosition:76 MutationType:inframe_deletion CAID:CA357012 ClinVarID:N/A Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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