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    Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease
    1
    1. ClingenBaseline 22 Oct 2026
      nt 768, C to G, Tyr to stop, exon 3

      PatientID: 16

      KindredID: 6006

      Case: F, 24Y0M, 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.Y185* (c.555C>G)

      LegacyVariant: p.Y185* (c.768C>G)

      CaseProblemVariantFreeText: N/A

      ClinVar: 223233 https://www.ncbi.nlm.nih.gov/clinvar/variation/223233/

      CAID: CA357075 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.555C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y185* (c.555C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:24 AssumedRefSeq:AF010238.1 Mutation:Germline cDNAposition:555 ProteinPosition:185 CivicName:Y185*(c.555C>G) CAID:CA357075 ClinVar:223233 NoFamilyInfo MutationType:stop_gained ClinVarID:Yes AminoAcidChange:TYRtoTER 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