1 Matching Annotations
  1. Oct 2026
  2. link.springer.com link.springer.com
    Retinal angiomatosis and von Hippel-Lindau disease
    1
    1. ClingenBaseline 28 Oct 2026

      GroupID: None (12)

      DiseaseAssertion: VHL

      GroupSize: 1

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This family group of 1 individual has clinically confirmed VHL disease presenting with retinal angiomatosis. This individual was found to harbor a c.278G>T variant causing a Gly93Val missense mutation (noted in the paper as c.491G>T 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.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93V (c.278G>T)

      LegacyVariant: c.491G>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625232, https://www.ncbi.nlm.nih.gov/clinvar/variation/625232/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G93V (c.278G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:278 ProteinPosition:93 AminoAcidChange:GLYtoVAL ClinVarID:625232 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:G93V(c.278G>T) NoFamilyInfo FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004170000200