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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 30 Oct 2026
      842Fnt 393 del G, codon 137 exon 1, stop

      PatientID: 8

      KindredID: 2656

      Case: F, 42Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Another member of her family (patient 7) also presented with pancreatic endocrine tumour.

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with one radiologic pancreatic neuroendocrine tumors.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V62Cfs*5 (c.180delG)

      LegacyVariant: p.V62Cfs*5 (c.393delG)

      CaseProblemVariantFreeText: N/A

      ClinVar: 182986 https://www.ncbi.nlm.nih.gov/clinvar/variation/182986/

      CAID: CA020069 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.180delG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: V62Cfs*5 (c.180delG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:42 AssumedRefSeq:AF010238.1 Mutation:Germline MutationType:minus_1_frameshift_variant cDNAposition:180 ProteinPosition:62 AminoAcidChange:VALtoCYS Familial CAID:CA020069 CivicName:V62Cfs*5(c.180delG) ClinVarID:182986 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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