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    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
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    1. ClingenBaseline 02 Nov 2026
      F1, II.1c.429C>T/c.340+770T>CVHL p.Asp143Asp/X1 p.Ser179Pro?1991/15 yM16.6576.9163Erythrocytosis, kidney ischemic infarct—

      PatientID: II.1

      KindredID: F1

      Case: M, 15Y0M, Ethnicity Unknown

      DiseaseAssertion: Polycythemia

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001901 (Polycythemia)

      CaseHPOFreeText: Diagnosed with erythrocytosis (Polycythemia) and kidney ischemic infarct at age 15 (DOB: 1991).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+770T>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 816685, https://www.ncbi.nlm.nih.gov/clinvar/variation/816685/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variants are heterozygous.

      MutationType: missense_variant;transition; splice_site_variant

      CivicName: D143= (c.429C>T) and c.340+770T>C

      MultipleGeneVariants: Germline, VHL, c.429C>T (p.Asp143Asp)

      InheritancePattern:AutosomalRecessive DiseaseEntity:polycythemia AgeOfPresentation:polycythemia:15 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:816685 ClinVarID:Yes MultipleVHLVariants MutationType:missense_variant;transition MutationType:splice_site_variant CivicName:D143=(c.429C>T)andc.340+770T>C FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206