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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 29 Oct 2026
      154G→A Ts Exon 1 52 GAG E E52K

      GroupID: 2

      Case: Age unknown, Sex unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: None - one member documented here

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Manifestations are possibly but not clearly reported

      CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E52K (c.154G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 161402 https://www.ncbi.nlm.nih.gov/clinvar/variation/161402/

      CAID: N/A

      gnomAD: 0.00008525 https://gnomad.broadinstitute.org/variant/3-10183685-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: E52K (c.154G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:52 CivicName:E52K(c.154G>A) cDNAposition:154 AminoAcidChange:GLUtoLYS MutationType:missense_variant;transition ClinVarID:161402 ClinVarID:Yes NoFamilyInfo Ethnicity:French inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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