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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 08 Nov 2026
      F5, II.2c.430G>A/c.340+694_711dupVHL p.Gly144Arg/X1 p.Trp159X?1975/13 yM16.2605.9Erythrocytosis—

      PatientID: II.2

      KindredID: F5

      Case: M, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: Polycythemia

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001901 (Polycythemia)

      CaseHPOFreeText: Diagnosed with erythrocytosis (Polycythemia) at age 13 (DOB: 1975).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G144R (c.430G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 576437, https://www.ncbi.nlm.nih.gov/clinvar/variation/576437/

      CAID: N/A

      gnomAD: 0.000003976, https://gnomad.broadinstitute.org/variant/3-10188287-G-A?dataset=gnomad_r2_1

      VariantEvidence: Variants are heterozygous.

      MutationType: missense_variant;transition

      CivicName: G144R (c.430G>A) and c.340+694_340+711dup

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

      InheritancePattern:AutosomalRecessive DiseaseEntity:polycythemia AgeOfPresentation:polycythemia:13 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:430 ProteinPosition:144 AminoAcidChange:GLYtoARG ClinVarID:576437 ClinVarID:Yes MultipleVHLVariants MutationType:missense_variant;transition CivicName:G144R(c.430G>A)andc.340+694_340+711dup FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206