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  2. www.nature.com www.nature.com
    BAP1 loss defines a new class of renal cell carcinoma
    1
    1. ClingenBaseline 11 Nov 2026
      point mutation

      PatientID: 2368

      KindredID: 2368

      Case: M, 61Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient has no family history of VHL disease.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: The patient presented with renal cell carcinoma (please see supplementary data 1)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: See supplementary data 1.

      Variant: p.E21A (c.62A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 411957, https://www.ncbi.nlm.nih.gov/clinvar/variation/411957/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: E21A (c.62A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion NoFamilyInfo SupplementalData DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma CivicName:E21A(c.62A>C) cDNAPosition:62 ProteinPosition:21 AminoAcidChange:GLUtoALA ClinVarID:Yes ClinVarID:411957 RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nature.com/articles/ng.2323