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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
      F10, II.1c.429C>T/c.429C>TVHL p.Asp143Asp/VHL p.Asp143Asp2002/4.5 yF22.564-77.412.6264Erythrocytosis, splenomegalyβ thalassemia

      PatientID: II.1

      KindredID: F10

      Case: M, 4Y6M, Ethnicity Unknown

      DiseaseAssertion: Polycythemia

      FamilyInfo: This patient’s asymptomatic patients were both found to be carriers of the D143= (c.429C>T) germline variant in VHL. Their other child (II.2) also carried the gene. The current patient was the only one who was homozygous for the variant.

      CasePresentingHPOs: HP:0001901; HP:0001744 (Polycythemia, Splenomegaly)

      CaseHPOFreeText: Diagnosed with erythrocytosis (Polycythemia) and splenomegaly at 4.5 years old (DOB: 2002).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D143= (c.429C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 416990, https://www.ncbi.nlm.nih.gov/clinvar/variation/416990/

      CAID: N/A

      gnomAD: 0.000007953, https://gnomad.broadinstitute.org/variant/3-10188286-C-T?dataset=gnomad_r2_1

      VariantEvidence: Variant is present in allele 1 and 2 (i.e. homozygous).

      MutationType: missense_variant;transition; synonymous_variant

      CivicName: D143= (c.429C>T)

      MultipleGeneVariants: Germline, Beta Thalassemia

      InheritancePattern:AutosomalRecessive DiseaseEntity:splenomegaly DiseaseEntity:polycythemia AgeOfPresentation:polycythemia:4.5 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:429 ProteinPosition:143 AminoAcidChange:ASPtoASP ClinVarID:416990 ClinVarID:Yes MultipleGeneVariants MutationType:missense_variant;transition MutationType:synonymous_variant CivicName:D143=(c.429C>T) FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      F10, II.1c.429C>T/c.429C>TVHL p.Asp143Asp/VHL p.Asp143Asp2002/4.5 yF22.564-77.412.6264Erythrocytosis, splenomegalyβ thalassemia

      PatientID: II.1

      KindredID: F10

      Case: M, 4Y6M, Ethnicity Unknown

      DiseaseAssertion: Polycythemia

      FamilyInfo: This patient’s asymptomatic patients were both found to be carriers of the D143= (c.429C>T) germline variant in VHL. Their other child (II.2) also carried the gene. The current patient was the only one who was homozygous for the variant.

      CasePresentingHPOs: HP:0001901; HP:0001744 (Polycythemia, Splenomegaly)

      CaseHPOFreeText: Diagnosed with erythrocytosis (Polycythemia) and splenomegaly at 4.5 years old (DOB: 2002).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D143= (c.429C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 416990, https://www.ncbi.nlm.nih.gov/clinvar/variation/416990/

      CAID: N/A

      gnomAD: 0.000007953, https://gnomad.broadinstitute.org/variant/3-10188286-C-T?dataset=gnomad_r2_1

      VariantEvidence: Variant is present in allele 1 and 2 (i.e. homozygous).

      MutationType: missense_variant;transition; synonymous_variant

      CivicName: D143= (c.429C>T)

      MultipleGeneVariants: Germline, Beta Thalassemia

      InheritancePattern:AutosomalRecessive DiseaseEntity:splenomegaly DiseaseEntity:polycythemia AgeOfPresentation:polycythemia:4.5 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:429 ProteinPosition:143 AminoAcidChange:ASPtoASP ClinVarID:416990 ClinVarID:Yes MultipleGeneVariants MutationType:missense_variant;transition MutationType:synonymous_variant CivicName:D143=(c.429C>T) FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206