1 Matching Annotations
  1. Oct 2026
  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 29 Oct 2026

      PatientID: 280

      KindredID: 280

      Case: Sex Unknown, 25Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0001732 (Hemangioblastoma, Abnormality of the pancreas)

      CaseHPOFreeText: CNS hemangioblastoma and pancreatic cyst or tumor.

      CaseNotHPOs: HP:0009711; HP:0006770; HP:0002666; HP:0000107 (Retinal capillary hemangioma, Clear cell renal cell carcinoma, Pheochromocytoma, Renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.P76del (c.227_229del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357012, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; inframe_deletion

      CivicName: P76del (c.227_229del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:NM_000551.3 cDNAposition:227 ProteinPosition:76 AminoAcidChange:PHEtoCYS ClinVarID:N/A CAID:CA357012 MutationType:inframe_deletion MutationType:deletion CivicName:P76del(c.227_229del) NoFamilyInfo SupplementalData ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/