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  2. www.sciencedirect.com www.sciencedirect.com
    Pathogenic germline variants in 10,389 adult cancers
    1
    1. ClingenBaseline 09 Nov 2026
      VHL (n = 10)

      PatientID: N/A

      KindredID: 1

      Case: M, 65Y0M, Ethnicity Unknown

      DiseaseAssertion: bladder carcinoma

      FamilyInfo: No family information provided.

      CasePresentingHPOs: HP:0002862 (bladder carcinoma)

      CaseHPOFreeText: Patient was a white male diagnosed with bladder urothelial carcinoma, who passed away at age 65Y0M.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: See table s3 for patient-related information.

      Variant: p.L188V (c.562C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2225, https://www.ncbi.nlm.nih.gov/clinvar/variation/2225/

      CAID: N/A

      gnomAD: 0.00002121, https://gnomad.broadinstitute.org/variant/3-10191569-C-G

      VariantEvidence: N/A

      MutationType: missense variant; transversion

      CivicName: L188V (c.562C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion AssumedRefSeq:NM_000551.3 DiseaseEntity:bladdercarcinoma CivicName:L188V(c.562C>G) cDNAPosition:562 ProteinPosition:188 AminoAcidChange:LEUtoVAL ClinVarID:Yes ClinVarID:2225 NoFamilyHistory SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0092867418303635