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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 26 Oct 2026
      F6, II.1c.492G>T/c.340+574A>T*VHL p.Gln164His/SA2014/6 moM15.6496.91167Splenomegaly—

      PatientID: II.1

      KindredID: F6

      Case: M, 0Y6M, Ethnicity Unknown

      DiseaseAssertion: Splenomegaly

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001744 (Splenomegaly)

      CaseHPOFreeText: Diagnosed with splenomegaly at age 6 months (DOB: 2014).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q164H (c.492G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456566, https://www.ncbi.nlm.nih.gov/clinvar/variation/456566/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variants are heterozygous.

      MutationType: missense_variant;transversion

      CivicName: Q164H (c.492G>T) and c.340+574A>T

      MultipleGeneVariants: Germline, VHL, c.340+574A>T

      InheritancePattern:AutosomalDominant DiseaseEntity:splenomegaly AgeOfPresentation:splenomegaly:0 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:492 ProteinPosition:164 AminoAcidChange:GLNtoHIS ClinVarID:Yes ClinVarID:456566 MultipleVHLVariants MutationType:missense_variant;transversion CivicName:Q164H(c.492G>T)andc.340+574A>T FamilyPedigree ExperimentalAssay inferred_gene_hgnc:7029 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206