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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease
    1
    1. ClingenBaseline 10 Nov 2026

      PatientID: 33

      KindredID: 33

      Case: M, 33Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: No family history of VHL.

      CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

      CasePresentingHPOs: HP:0010797; HP:0005584 (Hemangioblastoma, Renal cell carcinoma)

      CaseHPOFreeText: Multiple or bilateral CNS hemangioblastomas and renal cell carcinoma. Other phenotypes presented but not specified (one or more of: pancreatic cyst or tumor, renal or hepatic cyst). Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L140Sfs*4 (c.417dup)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573051216, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA2573051216

      gnomAD: N/A

      VariantEvidence: Stated as c.417_418insT by the authors.

      MutationType: duplication; plus_1_frameshift_variant

      CivicName: L140Sfs*4 (c.417dup)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:duplication MutationType:plus_1_frameshift_variant NonFamilial cDNAposition:417 ProteinPosition:140 AminoAcidChange:LEUtoSER ClinVarID:N/A CAID:CA2573051216 CivicName:L140Sfs*4(c.417dup) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25078357/