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    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
    1
    1. ClingenBaseline 22 Oct 2026
      F5

      PatientID: None (Sister 2)

      KindredID: F5

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+694_340+711dup

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 816686, https://www.ncbi.nlm.nih.gov/clinvar/variation/816686/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: duplication; splice_site_variant

      CivicName: c.340+694_340+711dup

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:816686 ClinVarID:Yes MutationType:duplication MutationType:splice_site_variant CivicName:c.340+694_340+711dup FamilyPedigree inferred_gene_hgnc:8156 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206