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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
    1
    1. ClingenBaseline 22 Oct 2026
      8M–IVS2c.464-1G > T138–––38, M384

      PatientID: None

      KindredID: 8

      Case: M, 38Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Thirteen unrelated patients with germline VHL mutations who were diagnosed with VHL disease were evaluated.

      CasePresentingHPOs: HP:0006880; HP:0001737; HP:0000107; HP:0002172; HP:0001288 (Cerebellar hemangioblastoma, Pancreatic cysts, Renal cyst, Postural instability, Gait disturbance)

      CaseHPOFreeText: At 38Y, this patient showed mild imbalance with gait difficulty. MRI of the brain revealed a cystic mass in the cerebellum, which was pathologically found to be hemangioblastoma. When this patient underwent CT, which included the pancreas and kidney, multiple pancreatic cysts and renal cysts were found. Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666; HP:0009711; HP:0005584 (Pheochromocytoma, Retinal capillary hemangioma, Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.464-1G>T

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223221, https://www.ncbi.nlm.nih.gov/clinvar/variation/223221/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transversion

      CivicName: Splice Site (c.464-1G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:gaitdisturbance DiseaseEntity:posturalinstability AgeOfPresentation:cerebellarhemangioblastoma:38 AgeOfPresentation:pancreaticcysts:38 AgeOfPresentation:renalcyst:38 AgeOfPresentation:gaitdisturbance:38 AgeOfPresentation:posturalinstability:38 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:223221 ClinVarID:Yes MutationType:missense_variant;transversion MutationType:splice_site_variant CivicName:SpliceSite(c.464-1G>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4955248/