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    Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis
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    1. ClingenBaseline 11 Nov 2026
      We observed 10 different intragenic mutations in 10/15 (66.7%) patients: five missense mutations

      PatientID: 15

      KindredID: 15

      Case: M, 52Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Multiple involvements of CNS HB (See table 1)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 9829912

      SupplementalData: N/A

      Variant: p.E70K (c.208G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVar: 43598 https://www.ncbi.nlm.nih.gov/clinvar/variation/43598/

      CAID: CA020108 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.208G%3EA

      gnomAD: 0.000004365 https://gnomad.broadinstitute.org/variant/3-10183739-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: E70K (c.208G>A)

      MultipleGeneVariants: N/A

      Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma NoFamilyInfo Mutation:Germline RefSeq:NM_000551.2 cDNAposition:208 ProteinPosition:70 AminoAcidChange:GLUtoLYS CAID:CA020108 MutationType:missense_variant;transition CivicName:E70K(c.208G>A) ClinVarID:43598 ClinVarID:Yes InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2650969/