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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 11 Nov 2026
      nt 699 C to G, Cys to Trp

      PatientID: 29

      KindredID: 3618

      Case: M, 29Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: He presented with two pathologic pancreatic endocrine tumours.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162W (c.486C>G)

      LegacyVariant: C162W (c.699C>G)

      CaseProblemVariantFreeText: N/A

      ClinVar:223227 https://www.ncbi.nlm.nih.gov/clinvar/variation/223227/

      CAID: CA357016 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.486C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: C162W (c.486C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:VHL AgeOfPresentation:pancreaticendocrinetumor:29 AssumedRefSeq:AF010238.1 Mutation:Germline MutationType:missense_variant;transversion cDNAposition:486 ProteinPosition:162 AminoAcidChange:CYStoTRP CivicName:C162W(c.486C>G) NoFamilyInfo CAID:CA357016 ClinVar:223227 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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