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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population
    1
    1. ClingenBaseline 05 Nov 2026
      117 31 c.465_470del6 p.156_157delYT x x x De novo Parents and siblings -

      PatientID: 117

      KindredID: 117

      Case: Sex Unknown, 31Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Parents and siblings were all negative for the mutation. No phenotype details are noted for these family members.

      CasePresentingHPOs: HP:0010797; HP:0001732; HP:0009711 (Hemangioblastoma, Abnormality of the pancreas, Retinal capillary hemangioma)

      CaseHPOFreeText: CNS hemangioblastoma, retinal hemangioblastoma and pancreatic cyst or tumor.

      CaseNotHPOs: HP:0002666; HP:0006770; HP:0000107 (Pheochromocytoma, Clear cell renal cell carcinoma, Renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.Y156_T157del (c.465_470del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA16621939, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.465_470del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion; deletion

      CivicName: Y156_T157del (c.465_470del)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:NM_000551.3 cDNAposition:465 ProteinPosition:156 AminoAcidChange:TYRtoTHR ClinVarID:N/A CAID:CA16621939 MutationType:inframe_deletion MutationType:deletion CivicName:Y156_T157del(c.465_470del) deNovoConfirmed NonFamilial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/