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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
      386insCT Fs Exon 2 129 CTG L Stop131

      GroupID: 29

      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.V130Wfs*30 (c.386_387insCT)

      CaseProblemVariantFreeText: recorded in paper as c.386insCT, this automaps to NM_000551.3:c.385_386dupCT

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2573130306 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.385_386dup

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: duplication

      CivicName: V130fs (c.385_386dup)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NoFamilyInfo Ethnicity:French DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:385 CivicName:V130fs(c.385_386dup) MutationType:duplication ProteinPosition:130 AminoAcidChange:VALtoTRP ClinVarID:N/A CAID:CA2573130306 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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