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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Endothelial Landscape and Its Role in Von Hippel-Lindau Disease
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    1. ClingenBaseline 25 Oct 2026
      V#3exon 3c.525C > Ap.Y175XPancreatic cysts and renal carcinoma

      PatientID: 3

      KindredID: 3

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs HP:0001737; HP:0005584 (Pancreatic cysts; Renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.Y175* (c.525C>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1298905, https://www.ncbi.nlm.nih.gov/clinvar/variation/1298905/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Y175* (c.525C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:renalcellcarcinoma CivicName:Y175*(c.525C>A) MutationType:stop_gained AminoAcidChange:TYRtoTER cDNAposition:525 ProteinPosition:175 ClinVarID:1298905 ClinVarID:Yes SupplementalData ExperimentalAssay NoFamilyInfo inferred_gene_hgnc:20145 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8465092/