3 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. ClingenBaseline 24 Oct 2026

      GroupID/ KindredID: F41

      Case: Sex unknown, 22Y0M, Spanish

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial antecedents found; unknown of any additional features to index case relatives

      CasePresentingHPOs: HP:0009711; HP:0006770; HP:0006880; HP:0000107; HP:0001737 (retinal capillary hemangioma, clear cell renal cell carcinoma, cerebellar hemangioblastoma, renal cysts, pancreatic cysts)

      CaseHPOFreeText: Multiple lesions were found with the patient’s cerebellar hemangioma. Unilateral ccRCC. Age of onset is 22Y0M.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L128R (c.383T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753891 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.383T%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: L128R (c.383T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Spanish Familial DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts RefSeq:AF010238.1 cDNAposition:383 ProteinPosition:128 CivicName:L128R(c.383T>G) MutationType:missense_variant;transversion AminoAcidChange:LEUtoARG CAID:CA351753891 ClinVarID:N/A ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.10309
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis
    1
    1. ClingenBaseline 24 Oct 2026
      383T>C

      PatientID: 5

      KindredID: 5

      Case: F, 27Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None. Sporadic

      CasePresentingHPOs: HP:0010797; HP:0005584 (hemangioblastoma, renal cell carcinoma)

      CaseHPOFreeText: 'Other' phenotypes found in patient. These are noted in the paper to include: pancreatic neuroendocrine tumors (PNETs), renal and pancreatic cysts and central nervous system tumors, although it is not clearly stated that patient has all. (See Table 1).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L128P (c.383T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 1208816 https://www.ncbi.nlm.nih.gov/clinvar/variation/1208816

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L128P (c.383T>C)

      MultipleGeneVariants: N/A

      Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma RefSeq:NM_000551.2 cDNAposition:383 ProteinPosition:128 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition CivicName:L128P(c.383T>C) NoFamilyInfo Mutation:Germline ClinVarID:1208816 yes inferred_gene_hgnc:11226 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2650969/
  4. 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 22 Oct 2026

      PatientID: 30

      KindredID: 30

      Case: F, 27Y0M, 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: CNS hemangioblastoma. Other phenotypes presented but not specified (one or more of: pancreatic cyst or tumor, renal or hepatic cyst). Diagnosed with VHL Type 1. Phenotypes revised from previous reports (see “PreviouslyPublished” section below for PMID).

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 19270817

      SupplementalData: N/A

      Variant: p.L128P (c.383T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1208816, https://www.ncbi.nlm.nih.gov/clinvar/variation/1208816/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L128P (c.383T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:383 ProteinPosition:128 AminoAcidChange:LEUtoPRO ClinVarID:1208816 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L128P(c.383T>C) NonFamilial inferred_gene_hgnc:11226 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25078357/