1 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 12 Nov 2026

      GroupID: 3177

      DiseaseAssertion: assumed VHL

      GroupSize: 6

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 6 family members recorded with this mutation.

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

      GroupHPOFreeText: 4/6 members had a retinal angioma (hemangioma), and 3/6 members had CNS hemangioblastoma

      GroupNotHPOs: HP:0002666; HP:0005584 (pheochromocytoma, renal cell carcinoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R82_V84del (c.244_252delCGCGTCGTG)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.153delR-V-V (c.457delCGCGTCGTC)

      ClinVarID: N/A

      CAID: CA658820713 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.244_252delCGCGTCGTG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: R82_V84del (c.244_252del)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Mutation:Germline ClinVarID:N/A CAID:CA658820713 InheritancePattern:AutosomalDominant Familial FamilyCohort MutationType:inframe_deletion ProteinPosition:82 ProteinPosition:84 cDNAposition:252 CivicName:R82_V84del(c.244_252del) RefSeq:AF010238.1 cDNAposition:244 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/abs/10.1002/humu.1380050109