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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome
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    1. ClingenBaseline 14 Nov 2026
      7PIntron 1Splice sitec. 341-3T>G/HBA CNS, Metastatic PanNET

      PatientID: 7

      KindredID: 5

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0030405 (hemangioblastoma; pancreatic endocrine tumor)

      CaseHPOFreeText: CNS Hemangioblastoma and metastatic PanNET.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MEN1/ RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.341-3T>G

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428812 https://www.ncbi.nlm.nih.gov/clinvar/variation/428812

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.341-3T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551 PreviousTesting:RET DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticendocrinetumor ClinVarID:428812 ClinVarID:Yes NoFamilyInfo MutationType:splice_site_variant CivicName:SpliceSite(c.341-3T>G) AminoAcidChange:N/A ProteinPosition:N/A cDNAposition:N/A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8440302/