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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 26 Oct 2026
      211insT Fs Exon 1 71 CCC R Stop131

      GroupID: 7

      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.P71Lfs*61 (c.211_212insT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2501268513 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2501268513

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift

      CivicName: P71fs (c.211insT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:211 ProteinPosition:71 CivicName:P71fs(c.211insT) MutationType:plus_1_frameshift_variant AminoAcidChange:PROtoLEU CAID:CA2501268513 ClinVarID:N/A Ethnicity:French NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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