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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 28 Oct 2026
      FMother3c.592delCp.Leu198Trpfs*42C–––2748, M–+19

      PatientID: Mother

      KindredID: 12

      Case: F, 48Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Daughter presented with the same variant and pheochromocytoma at 24Y, multiple pancreatic lesions (pancreatic cyst or tumor, unspecified) at 21Y.

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

      CasePresentingHPOs: HP:0001732; HP:0002666 (Abnormality of the pancreas, Pheochromocytoma)

      CaseHPOFreeText: Pheochromocytoma at 27Y, multiple pancreatic lesions (pancreatic cyst or tumor, unspecified) at 48Y a developmental venous anomaly or meningioma (unspecified). Diagnosed with VHL Type 2C.

      CaseNotHPOs: HP:0010797; HP:0005584; HP:0009711; HP:0000107 (Hemangioblastoma, Renal cell carcinoma, Retinal capillary hemangioma, Renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L198Wfs*4 (c.592del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432423813, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.592del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: L198fs (c.592del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:pheochromocytoma AgeOfPresentation:pancreaticcysts:27 AgeOfPresentation:pheochromocytoma:48 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:592 ProteinPosition:198 AminoAcidChange:LEUtoTRP ClinVarID:N/A CAID:CA432423813 MutationType:deletion MutationType:minus_1_frameshift_variant CivicName:L198fs(c.592del) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4955248/