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  2. journals.lww.com journals.lww.com
    Endocrine Pancreatic Tumors in von Hippel-Lindau Disease:... : Pancreas
    1
    1. ClingenBaseline 14 Nov 2026
      21 missense mutations, 5 nonsense mutations

      PatientID: 31

      KindredID: 463

      Case: Sex unknown, Age unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0002666; HP:0030405 (pheochromocytoma, pancreatic endocrine tumour)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584 (renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L184H (c.551T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756352 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.551T%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L184H (c.551T>A)

      MultipleGeneVariants: N/A

      CAID:CA351756352 ClinVarID:N/A InheritancePattern:AutosomalDominant Ethnicity:French Mutation:Germline DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor NoFamilyInfo AssumedRefSeq:AF010238.1 CivicName:L184H(c.551T>A) cDNAposition:551 ProteinPosition:184 AminoAcidChange:LEUtoHIS MutationType:missense_variant;transversion 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