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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Retinal angiomatosis and von Hippel-Lindau disease
    1
    1. ClingenBaseline 24 Oct 2026

      GroupID: None (20)

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This family group of 2 individuals have clinically confirmed VHL disease. These individuals were found to harbor a c.463+3A>G splice variant (noted in the paper as c.676+3A>G due to Latif reference transcript being used).

      GroupPresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease. No VHL clinical phenotypes were explicitly stated other than retinal angiomatosis in at least one patient.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+3A>G

      LegacyVariant: c.676+3A>G

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428796, https://www.ncbi.nlm.nih.gov/clinvar/variation/428796/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition; splice_site_variant

      CivicName: c.463+3A>G

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:428796 ClinVarID:Yes MutationType:missense_variant;transition MutationType:splice_site_variant CivicName:c.463+3A>G NoFamilyInfo FamilyCohort inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/11148816/