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    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
    2
    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
    2. ClingenBaseline 22 Oct 2026
      F3, II.1c.598C>T/c.340+770T>CVHL p.Arg200Trp/X1 p.Ser179Pro?2003/4 moM17.9547.560

      PatientID: II.1

      KindredID: 3

      Case: M, 0Y4M, Ethnicity Unknown

      DiseaseAssertion: Polycythemia

      FamilyInfo: The patient had an affected brother (II.2) with the same mutation and polycythemia. Biologic material from parents were unavailable but Chuvash core haplotype analysis demonstrated that all patients were compound heterozygous, with 1 mutation being inherited from each parent. See Figure 2B for family pedigree.

      CohortInfo: Patients with Chuvash polycythemia for whom VHL R200W had been found in a heterozygous state.

      CasePresentingHPOs: HP:0001901 (Polycythemia)

      CaseHPOFreeText: N/A

      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: 0.00003186 https://gnomad.broadinstitute.org/variant/3-10184641-T-C

      VariantEvidence: N/A

      MutationType: intron_variant

      CivicName: c.340+770T>C and R200W (c.598C>T)

      MultipleGeneVariants: Germline, VHL, c.598C>T (p.Arg200Trp)

      InheritancePattern:AutosomalRecessive Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:340 ProteinPosition:N/A AminoAcidChange:N/A MultipleVHLVariants ClinVarID:816685 ClinVarID:Yes DiseaseEntity:Polycythemia AgeOfPresentation:Polycythemia:0 Familial FamilyPedigree MutationType:intron_variant ExperimentalAssay CivicName:c.340+770T>CandR200W(c.598C>T) inferred_gene_hgnc:8156 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206