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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 21 Oct 2026
      F4, II.1c.598C>T/c.340+694_711dupVHL p.Arg200Trp/X1 p.Trp159X?1990/7 yM20.6648.2549.9Erythrocytosis, deep vein thrombosis, intracerebral hemorrhageFV Leiden

      PatientID: II.1

      KindredID: F4

      Case: M, 7Y0M, Ethnicity Unknown

      DiseaseAssertion: Polycythemia

      FamilyInfo: Variant c.340+694_340+711dup is inherited from mother (genetically confirmed) and variant R200W (c.598C>T) is assumed to be inherited from father.

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

      CasePresentingHPOs: HP:0001901; HP:0002625; HP:0001342 (Polycythemia, Deep venous thrombosis, Cerebral hemorrhage)

      CaseHPOFreeText: Diagnosed with erythrocytosis (Polycythemia), deep vein thrombosis, intracerebral hemorrhage at age 7 (DOB: 1990).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R200W (c.598C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2232, https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/

      CAID: N/A

      gnomAD: 0.0002016, https://gnomad.broadinstitute.org/variant/3-10191605-C-T

      VariantEvidence: Variants are heterozygous.

      MutationType: missense_variant;transition

      CivicName: R200W (c.598C>T) and c.340+694_340+711dup

      MultipleGeneVariants: Germline, VHL, c.340+694_340+711dup

      MultipleGeneVariants: Germline, Factor V Leiden

      InheritancePattern:AutosomalRecessive DiseaseEntity:polycythemia DiseaseEntity:deepvenousthrombosis DiseaseEntity:cerebralhemorrhage AgeOfPresentation:polycythemia:7 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:598 ProteinPosition:200 AminoAcidChange:ARGtoTRP ClinVarID:2232 ClinVarID:Yes MultipleVHLVariants MultipleGeneVariants MutationType:missense_variant;transition CivicName:R200W(c.598C>T)andc.340+694_340+711dup FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      F4, II.1c.598C>T/c.340+694_711dupVHL p.Arg200Trp/X1 p.Trp159X?1990/7 yM20.6648.2549.9Erythrocytosis, deep vein thrombosis, intracerebral hemorrhageFV Leiden

      PatientID: II.1

      KindredID: F4

      Case: M, 7Y0M, Ethnicity Unknown

      DiseaseAssertion: Polycythemia

      FamilyInfo: Variant c.340+694_340+711dup is inherited from mother (genetically confirmed) and variant R200W (c.598C>T) is assumed to be inherited from father.

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

      CasePresentingHPOs: HP:0001901; HP:0002625; HP:0001342 (Polycythemia, Deep venous thrombosis, Cerebral hemorrhage)

      CaseHPOFreeText: Diagnosed with erythrocytosis (Polycythemia), deep vein thrombosis, intracerebral hemorrhage at age 7 (DOB: 1990).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R200W (c.598C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2232, https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/

      CAID: N/A

      gnomAD: 0.0002016, https://gnomad.broadinstitute.org/variant/3-10191605-C-T

      VariantEvidence: Variants are heterozygous.

      MutationType: missense_variant;transition

      CivicName: R200W (c.598C>T) and c.340+694_340+711dup

      MultipleGeneVariants: Germline, VHL, c.340+694_340+711dup

      MultipleGeneVariants: Germline, Factor V Leiden

      InheritancePattern:AutosomalRecessive DiseaseEntity:polycythemia DiseaseEntity:deepvenousthrombosis DiseaseEntity:cerebralhemorrhage AgeOfPresentation:polycythemia:7 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:598 ProteinPosition:200 AminoAcidChange:ARGtoTRP ClinVarID:2232 ClinVarID:Yes MultipleVHLVariants MultipleGeneVariants MutationType:missense_variant;transition CivicName:R200W(c.598C>T)andc.340+694_340+711dup FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206