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    Epididymal cystadenomas in von Hippel-Lindau disease
    1
    1. ClingenBaseline 02 Nov 2026

      GroupID: 1

      Case: M, Age unknown, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: Unknown

      CaseHPOFreeText: Other manifestations may be present although not matched with individuals so could not deduce.

      CaseNotHPOs: HP:0009715 (Papillary cystadenoma of the epididymis)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V62Cfs*5 (c.180del)

      LegacyVariant: 393 del G

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182986 https://www.ncbi.nlm.nih.gov/clinvar/variation/182986/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: V62Cfs*5 (c.180del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:V62fs(c.180delG) cDNAposition:180 ProteinPosition:62 CivicName:V62Cfs*5(c.180del) MutationType:minus_1_frameshift_variant ClinVarID:182986 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0090429597000745