2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma
    1
    1. ClingenBaseline 05 Nov 2026
      Both affected family members were heterozygous for the c.340 + 1 G > A mutation, located at the first exon-intron junction.

      PatientID: 5

      KindredID: 3 (C)

      Case: F, 38Y0M, Hungarian

      DiseaseAssertion: VHL

      FamilyInfo: Family C consists of two parents and their two daughters. Patient's 14 year old daughter (see patient 4) shares the same mutation as him. She developed a retinal angioma at 12 years of age and a spinal cord hemangioma was detected at 14 years. The mother and the other daughter were free from any manifestations of the disease and showed no mutations in the VHL gene.

      CasePresentingHPOs: HP:0009713; HP:0006880; HP:0009711; HP:0006770 (spinal hemangioblastoma, cerebellar hemangioblastoma, retinal capillary hemangioma, clear cell renal cell carcinoma)

      CaseHPOFreeText: Radiological investigations detected bilateral kidney tumors, a cerebellar and a spinal cord hemangioma at 34 years of age. Histological analysis of the kidney verified RCC. Four years later (38 years of age), retinal angioma developed in both of his eyes.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+1G>A

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVar: 223190 https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: CA357042 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340%2B1G%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: c.340+1G>A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Hungarian DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:38 AgeOfPresentation:clearcellrenalcellcarcinoma:34 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:340 MutationType:splice_site_variant CivicName:c.340+1G>A CAID:CA357042 ClinVarID:223190 Familial DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:34 DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:34 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/23298237/
  3. Oct 2026
  4. journals.lww.com journals.lww.com
    Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression
    1
    1. ClingenBaseline 30 Oct 2026
      Eighteen VHL patients who underwent pancreatectomy for one or several endocrine tumors at Beaujon hospital from 1997 to 2008 were retrieved from the file of VHL patients (Table 1).

      PatientID: 3

      KindredID: 3

      Case: F, 34Y0M, Ethnicity unknown

      DiseaseAssertion: pancreatic endocrine tumor

      FamilyInfo: None

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: See Table 1 for more information

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+1G>A

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223190 https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: CA357042 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340%2B1G%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: c.340+1G>A

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:c.340+1G>A cDNAposition:340 CAID:CA357042 ClinVarID:223190 MutationType:splice_site_variant NoFamilyInfo ClinVarID:Yes InheritancePattern:AutosomalDominant ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/ajsp/fulltext/2009/05000/pancreatic_endocrine_microadenomatosis_in_patients.9.aspx