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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Direct Comparison of Patients With Hereditary and Sporadic Pancreatic Neuroendocrine Tumors: Evaluation of Clinical Course, Prognostic Factors and Genotype-Phenotype Correlations
    1
    1. ClingenBaseline 24 Oct 2026
      Patient 2c.163_164insGframeshift + STOP codon1

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: Hereditary PNET with a confirmed germline mutation.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E55Gfs*77 (c.163_164insG)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: c.163_164insG automapped to NM_000551.3:c.163dupG

      ClinVarID: 223159 https://www.ncbi.nlm.nih.gov/clinvar/variation/223159/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant; duplication

      CivicName: E55fs (c.163dupG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AminoAcidChange:GLUtoGLY cDNAposition:163 cDNAposition:164 CivicName:E55fs(c.163dupG) ProteinPosition:55 MutationType:duplication MutationType:plus_1_frameshift_variant NoFamilyInfo ClinVarID:223159 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8194819/