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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 09 Nov 2026

      PatientID: 221

      KindredID: 221

      Case: Sex Unknown, 16Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0010797; HP:0006770; HP:0002666; HP:0000107; HP:0001732 (Hemangioblastoma, Clear cell renal cell carcinoma, Pheochromocytoma, Renal cyst, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 17006605

      SupplementalData: Table S1, S2 and S3

      Variant: c.-61_-51dup

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 517152, https://www.ncbi.nlm.nih.gov/clinvar/variation/517152/

      CAID: N/A

      gnomAD: 0.00009581, https://gnomad.broadinstitute.org/variant/3-10183466-C-CTCCGCCCCGCG?dataset=gnomad_r2_1

      VariantEvidence: Variant was reported as c.-65_-55dup11 which was mapped to c.-61_-51dup.

      MutationType: splice_site_variant; duplication; plus_2_frameshift_variant; 5_prime_UTR_variant

      CivicName: c.-61_-51dup11

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:517152 ClinVarID:Yes MutationType:splice_site_variant MutationType:plus_2_frameshift_variant MutationType:duplication CivicName:c.-61_-51dup11 NoFamilyInfo SupplementalData MutationType:5_prime_UTR_variant ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/