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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 24 Oct 2026
      2231Mnt 553 G to C, Gly to Arg

      PatientID: 22

      KindredID: 3816

      Case: M, 31Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: He presented with one pathologic pancreatic endocrine tumour.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114R (c.340G>C)

      LegacyVariant: p.G114R (c.553G>C)

      CaseProblemVariantFreeText: N/A

      ClinVar: 223193 https://www.ncbi.nlm.nih.gov/clinvar/variation/223193/

      CAID: CA357101 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G114R (c.340G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AssumedRefSeq:AF010238.1 Mutation:Germline MutationType:missense_variant;transversion cDNAposition:340 ProteinPosition:114 AminoAcidChange:GLYtoARG CAID:CA357101 ClinVarID:223193 CivicName:G114R(c.340G>C) NoFamilyInfo ClinVarID:Yes 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