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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
    2
    1. ClingenBaseline 21 Oct 2026
      4335Fnt 454 C to T, Pro to SerP, 45959nt 775 C to G, Leu to Val

      PatientID: 43

      KindredID: 5959

      Case: F, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with four pathologic pancreatic neuroendocrine tumors.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L188V (c.562C>G)

      LegacyVariant: p.L188V (c.775C>G)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2225 https://www.ncbi.nlm.nih.gov/clinvar/variation/2225/

      CAID: CA020488 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.562C%3EG

      gnomAD: 0.00002121 https://gnomad.broadinstitute.org/variant/3-10191569-C-G

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L188V (c.562C>G)

      MultipleGeneVariants: Germline, VHL, c.241C>T (p.Prp81Ser)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:35 AssumedRefSeq:AF010238.1 Mutation:Germline MultipleVHLVariants cDNAposition:562 proteinposition:188 AminoAcidChange:LEUtoVAL ClinVarID:2225 CAID:CA020488 MutationType:missense_variant;transversion CivicName:L188V(c.562C>G) NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      4335Fnt 454 C to T, Pro to SerP, 45959nt 775 C to G, Leu to Val

      PatientID: 43

      KindredID: 5959

      Case: F, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with four pathologic pancreatic neuroendocrine tumors.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L188V (c.562C>G)

      LegacyVariant: p.L188V (c.775C>G)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2225 https://www.ncbi.nlm.nih.gov/clinvar/variation/2225/

      CAID: CA020488 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.562C%3EG

      gnomAD: 0.00002121 https://gnomad.broadinstitute.org/variant/3-10191569-C-G

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L188V (c.562C>G)

      MultipleGeneVariants: Germline, VHL, c.241C>T (p.Prp81Ser)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:35 AssumedRefSeq:AF010238.1 Mutation:Germline MultipleVHLVariants cDNAposition:562 proteinposition:188 AminoAcidChange:LEUtoVAL ClinVarID:2225 CAID:CA020488 MutationType:missense_variant;transversion CivicName:L188V(c.562C>G) 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