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  2. www-sciencedirect-com.proxy1.lib.uwo.ca www-sciencedirect-com.proxy1.lib.uwo.ca
    Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease
    1
    1. ClingenBaseline 02 Nov 2026
      1020Fnt 430, C to T, Gln to stop

      PatientID: 10

      KindredID: 2735

      Case: F, 20Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with one pathologic pancreatic endocrine tumour.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q73* (c.217C>T)

      LegacyVariant: p.Q73* (c.430C>T)

      CaseProblemVariantFreeText: N/A

      ClinVar: 223164 https://www.ncbi.nlm.nih.gov/clinvar/variation/223164/

      CAID: CA357036 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.217C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q73* (c.217C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:20 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:217 ProteinPosition:73 ClinVarID:223164 CAID:CA357036 NoFamilyInfo CivicName:Q73*(c.217C>T) Mutationtype:stop_gained ClinVarID:Yes AminoAcidChange:GLNtoTER inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    www-sciencedirect-com.proxy1.lib.uwo.ca/science/article/pii/S0039606000070100