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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 12 Nov 2026
      263 50 c.36G>C p.Glu12Asp x n/d n/a -

      PatientID: 263

      KindredID: 263

      Case: Sex Unknown, 50Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Transmission of the variant could not be determined (n/d) since both parents and family history were not available.

      CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

      CaseHPOFreeText: CNS hemangioblastoma.

      CaseNotHPOs: HP:0002666; HP:0006770; HP:0000107; HP:0001732; HP:0009711 (Pheochromocytoma, Clear cell renal cell carcinoma, Renal cyst, Abnormality of the pancreas, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.E12D (c.36G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 419711, https://www.ncbi.nlm.nih.gov/clinvar/variation/419711/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: E12D (c.36G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:36 ProteinPosition:12 AminoAcidChange:GLUtoASP ClinVarID:419711 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:E12D(c.36G>C) NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/