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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 03 Nov 2026
      612–613delGC Fs Exon 3 204 GAG E No stop

      GroupID: 54

      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: N/A

      SupplementalData: N/A

      Variant: p.R205Hfs*50 (c.612_613delGC)

      CaseProblemVariantFreeText: c.612_613delGC automaps to NM_000551.3:c.614_615delGC

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA020525 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.612_613delGC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_2_frameshift_variant

      CivicName: R205fs (c.614_615delGC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL AminoAcidChange:ARGtoHIS ProteinPosition:205 cDNAposition:614 MutationType:minus_2_frameshift_variant CivicName:R205fs(c.614_615delGC) Ethnicity:French NoFamilyInfo CAID:CA020525 ClinVarID:N/A Mutation:Germline AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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