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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. ClingenBaseline 09 Nov 2026

      GroupID/ KindredID: F31

      Case: Sex unknown, 19Y0M, Spanish

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial antecedents found; unknown of any additional features to index case relatives

      CasePresentingHPOs: HP:0009711; HP:0009713; HP:0006880; HP:0000107; HP:0001737 (retinal capillary hemangioma, spinal hemangioblastoma, cerebellar hemangioblastoma, renal cysts, pancreatic cysts)

      CaseHPOFreeText: Age of onset is 19Y0M.

      CaseNotHPOs: HP:0006770;HP:0002666 (clear cell renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D126Efs*6 (c.377_378insG)

      LegacyVariant: g.5429_5430insG

      CaseProblemVariantFreeText: Patient was reported with the g. (genomic) coding positions. The g.5429_5430insG variant worked out to correspond with c.377_378insG.

      ClinVarID: N/A

      CAID: CA2499307020 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499307020

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: D126fs* (c.377_378insG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Spanish DiseaseEntity:VHL ExperimentalAssay CAID:CA2499307020 ClinVarID:N/A RefSeq:AF010238.1 CivicName:D126fs*(c.377_378insG) MutationType:plus_1_frameshift_variant cDNAposition:377 ProteinPosition:126 AminoAcidChange:ASPtoGLU Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309