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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome
    1
    1. ClingenBaseline 22 Oct 2026
      1 Partial deletion Deletion of exon 1 and 2 1 0

      GroupID: 1

      DiseaseAssertion: VHL

      Group size: 1

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      Group Info: Retrospective analysis of a longitudinal cohort of 21 VHL germline mutation carriers and retinal haemangioblastomas. All patients were categorized in two genotypic categories: missense mutations and truncating mutations. 

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: The patient presented with retinal capillary hemangioma.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1

      Variant: Exon 1-2 deletion

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Chr3(GRCh37): g.10182301_10188764del; c.-1231_463+444del6464

      MutationType: exon_loss_deletion

      CivicName: Exon 1-2 deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:exon_loss_variant AssumedRefSeq:NM_000551.3 UnregisteredVariant CivicName: Exon 1-2 deletion ClinVarID:N/A Familial DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14360