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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 05 Nov 2026
      417–418delTC Fs Exon 2 139 TCT S Stop142

      GroupID: 33

      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.L140Qfs*3 (c.417_418delTC)

      CaseProblemVariantFreeText: recorded in paper as c.417_418delTC, this automaps to NM_000551.3:c.419_420delTC

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA357039 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.417_418delTC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_2_frameshift

      CivicName: L140fs (c.417_418delTC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL AssumedRefSeq:NM_000551.3 cDNAposition:417 ProteinPosition:140 MutationType:minus_2_frameshift_variant CAID:CA357039 ClinVarID:N/A AminoAcidChange:LEUtoGLN CivicName:L140fs(c.417_418delTC) Ethnicity:French NoFamilyInfo Mutation:Germline inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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