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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan
    1
    1. ClingenBaseline 13 Nov 2026

      PatientID: 16

      KindredID: 16

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0005584 (Hemangioblastoma, Renal cell carcinoma)

      CaseHPOFreeText: CNS hemangioblastoma and RCC.

      CaseNotHPOs: HP:0009711; HP:0002666 (Retinal capillary hemangioma, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 10761708

      SupplementalData: N/A

      Variant: p.C77Sfs*82 (c.230del)

      LegacyVariant: codon 148 (c.443delG)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573106239, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573106239

      gnomAD: N/A

      VariantEvidence: Nucleotide deletion (i.e. 443delG) coincides with legacy variant nomenclature (i.e. AF010238.1) and was mapped to c.230del (NM_000551.3).

      MutationType: minus_1_frameshift_variant; deletion

      CivicName: C77fs (c.230del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:230 ProteinPosition:77 AminoAcidChange:CYStoSER ClinVarID:N/A CAID:CA2573106239 MutationType:minus_1_frameshift_variant MutationType:deletion NoFamilyInfo CivicName:C77fs(c.230del) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8634692/