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  1. Last 7 days
  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 05 Nov 2026
      10F–3c.500G > Ap.Arg167Gln159–––59, M59, B4

      PatientID: 10

      KindredID: 10

      Case: F, 59Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None

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

      CasePresentingHPOs: HP:0010797, HP:0030405, HP:0000107(hemangioblastoma, pancreatic endocrine tumour, renal cyst)

      CaseHPOFreeText: This patient underwent abdominal CT; multiple renal cysts, a hypervascular mass in the pancreatic body, and a cystic mass in the pancreatic head and tail were found. Pylorus preserving pancreaticoduodenectomy was performed in this patient. Two months after surgery, gait disturbance appeared. MRI of the brain revealed multiple enhancing masses in both cerebellums, which were pathologically found to be hemangioblastoma.

      CaseNotHPOs: HP:0009711, HP:0005584, HP:0002666 (retinal capillary hemangioma, renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500 G >A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 Mutation:Germline DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:59 DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:59 DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:59 NonFamilial ClinVarID:2216 ClinVarID:Yes CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition Ethnicity:Korean inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4955248/
  3. www.liebertpub.com www.liebertpub.com
    VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease
    1
    1. ClingenBaseline 01 Nov 2026
      frameshift mutations (4/16)

      PatientID: 10

      KindredID: 10

      Case: 30Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: Thus far, it has not been possible to study the parents or close relatives of this patient.

      CasePresentingHPOs: HP:0010797; HP:0006770; HP:0000107 (hemangioblastoma; clear cell renal cell carcinoma; renal cysts)

      CaseHPOFreeText: Aged 29Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS hemangioblastoma diagnosed at 29Y, ccRCC and renal cysts were diagnosed at 30Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Q73Pfs*59 (c.217dupC)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2497030271 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497030271

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant; duplication

      CivicName: Q73Pfs*59 (c.217dupC)

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst AgeOfPresentation:hemangioblastoma:29 AgeOfPresentation:renalcyst:30 AgeOfPresentation:clearcellrenalcellcarcinoma:30 MutationType:plus_1_frameshift_variant MutationType:duplication cDNAposition:217 ProteinPosition:73 CivicName:Q73Pfs*59(c.217dupC) AminoAcidChange:GLNtoPRO CAID:CA2497030271 ClinVarID:N/A RefSeq:NM_000551.3 Mutation:Germline ExperimentalAssay NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    liebertpub.com/doi/10.1089/gtmb.2016.0204