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  2. journals-lww-com.proxy1.lib.uwo.ca journals-lww-com.proxy1.lib.uwo.ca
    PHOTODYNAMIC THERAPY AND VITRECTOMY FOR A LARGE OPTIC NERVE ... : Retinal Cases and Brief Reports
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    1. ClingenBaseline 27 Oct 2026
      Genetic testing showed that the patient was heterozygous for a deletion of three bases (TTC) in exon 1 of the von Hippel-Lindau gene. This is similar to the genetic findings of Patel et al2 for a patient with a macular hemangioblastoma. The mutation spans two codons, resulting in in-frame loss of a phenylalanine at codon 76.

      A case study of a 14Y boy was found with a juxtapapillary retinal hemangioblastoma and secondary neovascularization. 16 months later, genetic analysis revealed an in-frame mutation in the VHL gene (p.Phe76del). The patient and his family was still being investigated for other manifestations during the time of the publication.

      EvidenceStatement ClinVarID:223166 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals-lww-com.proxy1.lib.uwo.ca/retinalcases/fulltext/2009/00310/photodynamic_therapy_and_vitrectomy_for_a_large.30.aspx
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026
      1p.F76del>18YAffected3 Hb, KC+ PC

      PatientID: None (I)

      KindredID: 1

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: assumed VHL

      FamilyInfo: Total of 4 family members belonging to Family 1 (see Table 2; or follow KindredID 1)

      CasePresentingHPOs: HP:0010797; HP:0000107; HP:0001737 (hemangioblastoma, renal cyst, pancreatic cysts)

      CaseHPOFreeText: 3 HB, 1 kidney cyst at first screening, as well as now pancreatic cyst at final screening (5 year follow up).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.F76del (c.227_229del)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223166 https://www.ncbi.nlm.nih.gov/clinvar/variation/223166/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: p.F76del

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:inframe_deletion CivicName:p.F76del ClinVarID:223166 ClinVarID:Yes cDNAposition:227 Familial ProteinPosition:76 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/