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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Elevated ocular levels of vascular endothelial growth factor in patients with von Hippel-Lindau disease
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    1. ClingenBaseline 22 Oct 2026

      PatientID: 4

      KindredID: Unknown

      Case: M, 31Y0M, Dutch

      DiseaseAssertion: VHL

      FamilyInfo: Unknown - study sampled 15 patients from 5 families

      CasePresentingHPOs: HP:0006880; HP:0000107 (cerebellar hemangioblastoma, renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseNotHPOFreeText: No evidence of left or right eye angiomas

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V170D (c.509T>A)

      LegacyVariant: p.V241D

      CaseProblemVariantFreeText: Variant determined through the assumption of the authors using Latif et al 1993 (AF010238.1) transcript and adding 71bp to the protein sequence.

      ClinVarID: 625256 https://www.ncbi.nlm.nih.gov/clinvar/variation/625256/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant;transversion

      CivicName: V170D (c.509T>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcyst InheritancePattern:AutosomalDominant Ethnicity:Dutch DiseaseEntity:VHL Mutation:Germline RefSeq:N/A CivicName:V170D(c.509T>A) cDNAposition:509 ProteinPosition:170 AminoAcidChange:VALtoASP MutationType:missense_variant;transversion ClinVarID:625256 ClinVarID:Yes NoFamilyInfo AssumedRefSeq:AF010238.1 inferred_gene_hgnc:5542 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9402176/