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  2. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    1
    1. ClingenBaseline 02 Nov 2026
      322insTG Fs Exon 1 108 CGC R Stop131

      GroupID: 20

      Case: Age unknown, Sex unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: None - one member documented here

      CasePresentingHPOs: N/A

      CaseHPOFreeText: other manifestations are not clearly stated.

      CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Possibly published in PMID:15300849

      SupplementalData: N/A

      Variant: p.R108L*52 (c.322_323insTG)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2501548609 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2501548609

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_2_frameshift

      CivicName: R108fs (c.322_323insTG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline Ethnicity:French NoFamilyInfo AssumedRefSeq:NM_000551.3 cDNAposition:322 ProteinPosition:108 AminoAcidChange:ARGtoLEU MutationType:plus_2_frameshift_variant CivicName:R108fs(c.322_323insTG) CAID:CA2501548609 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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