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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
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    1. ClingenBaseline 30 Oct 2026

      PatientID: 191

      KindredID: 191

      Case: Sex Unknown, 36Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history noted but details not specified.

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000107 (Hemangioblastoma, Retinal capillary hemangioma, Renal cyst)

      CaseHPOFreeText: CNS hemangioblastoma, retinal hemangioblastoma and renal cystic lesion.

      CaseNotHPOs: HP:0001732; HP:0002666; HP:0006770 (Abnormality of the pancreas, Pheochromocytoma, Clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.L153P (c.458T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA16621942, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.458T%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L153P (c.458T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst Mutation:Germline RefSeq:NM_000551.3 cDNAposition:458 ProteinPosition:153 AminoAcidChange:LEUtoPRO ClinVarID:N/A CAID:CA16621942 MutationType:missense_variant;transition CivicName:L153P(c.458T>C) NoFamilyInfo SupplementalData ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/