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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    1
    1. ClingenBaseline 24 Oct 2026
      1 Germany c.339delA p.Gly114Valfs*45

      GroupID: 13

      Case: Sex unknown, Age unknown, German

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. 1 registrant was found with this variant; no family info was mentioned

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114Vfs*45 (c.339delA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA645509026 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.339delA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: G114Vfs*45 (c.339delA)

      MultipleGeneVariants: N/A

      Ethnicity:Germany Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:endolymphaticsactumor DiseaseEntity:VHL ClinVarID:N/A CAID:CA645509026 cDNAposition:339 ProteinPosition:114 AminoAcidChange:GLYtoVAL CivicName:G114Vfs*45(c.339delA) MutationType:minus_1_frameshift_variant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067