1 Matching Annotations
  1. Oct 2026
  2. onlinelibrary-wiley-com.proxy1.lib.uwo.ca onlinelibrary-wiley-com.proxy1.lib.uwo.ca
    von Hippel-Lindau development in children and adolescents
    1
    1. ClingenBaseline 29 Oct 2026
      18 I 14 48 3 PC (14 years) 1 KD (16 years) T c.606dupA (p.Gln203ThrfsX53)

      PatientID: I

      KindredID: 18

      Case: Sex Unknown, 48Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737; HP:0000112 (Pancreatic cysts, Nephropathy)

      CaseHPOFreeText: Diagnosed with VHL at age 14Y. Presented with 3 pancreatic cysts (14Y) and kidney disease (16Y). Age at the end of study: 48Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q203Tfs*53 (c.606dup)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 935385, https://www.ncbi.nlm.nih.gov/clinvar/variation/935385/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: duplication; plus_1_frameshift_variant

      CivicName: Q203TfsX53 (c.606dupA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:nephropathy DiseaseEntity:pancreaticcysts AgeOfPresentation:nephropathy:16 AgeOfPresentation:pancreaticcysts:14 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:606 ProteinPosition:203 AminoAcidChange:GLNtoTHR ClinVarID:935385 ClinVarID:Yes MutationType:duplication MutationType:plus_1_frameshift_variant CivicName:Q203TfsX53(c.606dupA) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.proxy1.lib.uwo.ca/doi/10.1002/ajmg.a.38324