2 Matching Annotations
  1. Last 7 days
  2. jnnp.bmj.com jnnp.bmj.com
    The impact of molecular genetic analysis of theVHL gene in patients with haemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 02 Nov 2026
      nt 544 A/C* 111 Ser→Arg S111R Missense 1

      PatientID: 17

      GroupID/ KindredID: 17

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: other phenotypes unknown.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S111R (c.331A>C)

      LegacyVariant: p.S111R (c.544A>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351751320 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.331A%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S111R (c.331A>C)

      MultipleGeneVariants: N/A

      Mutation:Germline DiseaseEntity:hemangioblastoma AssumedRefSeq:AF010238.1 CAID:CA351751320 ClinVarID:N/A ProteinPosition:111 AminoAcidChange:SERtoARG cDNAposition:331 CivicName:S111R(c.331A>C) MutationType:missense_variant;transversion NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf
  3. jmg.bmj.com jmg.bmj.com
    Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
    1
    1. ClingenBaseline 30 Oct 2026
      333C>G

      GroupID/ KindredID: 12

      Case: Age unknown, Sex unknown, Polish

      DiseaseAssertion: VHL

      FamilyInfo: This mutation was found in Family No. 12 with 1 member affected. There was no family history of VHL, however the parents were not tested (No confirmed de novo)

      CasePresentingHPOs: HP:0009711; HP:0010797 (retinal capillary hemangioma, hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584 (renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S111R (c.333C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223187 https://www.ncbi.nlm.nih.gov/clinvar/variation/223187/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S111R (c.333C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Ethnicity:Polish Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:111 cDNAposition:333 MutationType:missense_variant;transversion CivicName:S111R(c.333C>G) AminoAcidChange:SERtoARG ClinVarID:223187 ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    jmg.bmj.com/content/39/7/e38