3 Matching Annotations
  1. Last 7 days
  2. academic.oup.com academic.oup.com
    VHL mutation analysis in patients with isolated central nervous system haemangioblastoma
    1
    1. ClingenBaseline 27 Oct 2026
      B5 CHB 39 c.811C → T, R200W No 6 y 3 m Nil 2 FDRs mutation positive

      PatientID: B5

      KindredID: 5

      Case: Sex Unknown, 39Y0M, Ethnicity Unknown

      DiseaseAssertion: cerebellar hemangioblastoma

      FamilyInfo: Two first degree relatives were found to have the same mutation in the VHL gene, both had no features of VHL disease at 28 and 38 years old

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: no other clinical features were found after the cerebellar hemangioblastoma during 6 years and 3 month follow-up

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: p.R200W (c.811C>T)

      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: N/A

      MutationType: missense_variant;transition

      CivicName: R200W(c.598C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:cerebellarhemangioblastoma Mutation:Germline cDNAposition:598 ProteinPosition:200 AminoAcidChange:ARGtoTRP ClinVarID:2232 MutationType:missense_variant;transition CivicName:R200W(c.598C>T) RefSeq:AF010238.1 AgeOfPresentation:cerebellarhemangioblastoma:39 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/brain/article/130/3/836/278946
  3. www.sciencedirect.com www.sciencedirect.com
    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