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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 07 Nov 2026

      GroupID: 14

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A GroupEthnicity: Japanese GroupAgeRange: N/A

      GroupInfo: The 2 patients are grouped based on both having the same mutation. They are unrelated to one another.

      GroupPresentingHPOs: HP:0005584 (Renal cell carcinoma)

      GroupHPOFreeText: 2/2 patients in this group presented with RCC.

      GroupNotHPOs: HP:0009711; HP:0010797; HP:0002666 (Retinal capillary hemangioma, Hemangioblastoma, Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 10761708

      SupplementalData: N/A

      Variant: p.R120Nfs*40 (c.358_359insAC)

      LegacyVariant: codon 191 (c.571insAC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573106245, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA2573106245

      gnomAD: N/A

      VariantEvidence: Nucleotide deletion (i.e. 571insAC) coincides with legacy variant nomenclature (i.e. AF010238.1) and was mapped to c.358_359insAC (NM_000551.3).

      MutationType: insertion; plus_2_frameshift_variant

      CivicName: R120fs (c.358_359insAC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:358 ProteinPosition:120 AminoAcidChange:ARGtoASN ClinVarID:N/A CAID:CA2573106245 MutationType:plus_2_frameshift_variant MutationType:insertion NoFamilyInfo CivicName:R120fs(c.358_359insAC) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8634692/