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  2. journals.lww.com journals.lww.com
    Endocrine Pancreatic Tumors in von Hippel-Lindau Disease:... : Pancreas
    1
    1. ClingenBaseline 24 Oct 2026
      2 small deletions leading to a frameshift

      PatientID: 20

      KindredID: 900

      Case: Sex unknown, Age unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666; HP:0005584 (pheochromocytoma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P95Rfs*64 (c.284delC)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2497030172 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497030172

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: minus_1_frameshift_variant

      CivicName: P95Rfs*64 (c.284del)

      MultipleGeneVariants: N/A

      CAID:CA2497030172 ClinVarID:N/A InheritancePattern:AutosomalDominant Ethnicity:French Mutation:Germline DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor ProteinPosition:95 MutationType:minus_1_frameshift_variant cDNAposition:284 AminoAcidChange:PROtoARG NoFamilyInfo AssumedRefSeq:NM_000551.3 CivicName:P95Rfs*64(c.284del) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/pancreasjournal/fulltext/2008/07000/endocrine_pancreatic_tumors_in_von_hippel_lindau.13.aspx