4 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca
    von Hippel-Lindau development in children and adolescents
    1
    1. ClingenBaseline 02 Nov 2026
      5 I 0 28 1 retinal hb (17 years) T c.433C > T (p.Gln145X)

      PatientID: I

      KindredID: 5

      Case: Sex Unknown, 28Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: 2 family members with the same VHL variant. Patient 5-II presented with 13 CNS hemangioblastomas (11Y, 13Y, 15Y and 17Y), retinal hemangioblastoma (13Y) and 2 pancreatic cysts (16Y). Patient 5-III presented with retinal hemangioblastoma (12Y), pancreatic cysts (12Y), CNS hemangioblastoma (15Y) and kidney disease (12Y).

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: Diagnosed with VHL at age 0Y. Presented with retinal hemangioblastoma at 17Y. Age at the end of study: 28Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q145* (c.433C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625249, https://www.ncbi.nlm.nih.gov/clinvar/variation/625249/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition; stop_gained

      CivicName: Q145* (c.433C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:17 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:433 ProteinPosition:145 AminoAcidChange:GLNtoTER ClinVarID:625249 ClinVarID:Yes MutationType:missense_variant;transition MutationType:stop_gained CivicName:Q145*(c.433C>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca/doi/full/10.1002/ajmg.a.38324
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 01 Nov 2026

      GroupID: 27

      Case: 45Y0M, Sex Unknown, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation was found in 1 VHL family with a single patient.

      CasePresentingHPOs: HP:0006880; HP:0005584 (cerebellar hemangioblastoma; renal cell carcinoma)

      CaseHPOFreeText: patient had cerebellar hemangioblastoma diagnosed at 25Y, and RCC diagnosed at 45Y

      CaseNotHPOs: HP:0009711; HP:0002666 (retinal capillary hemangioma; pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.Q145* (c.433C>T) 

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625249 https://www.ncbi.nlm.nih.gov/clinvar/variation/625249/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q145* (c.433C>T) 

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:45 AgeOfPresentation:cerebellarhemangioblastoma:25 ProteinPosition:145 CivicName:Q145*(c.433C>T) cDNAposition:433 AminoAcidChange:GLNtoTER MutationType:stop_gained ClinVarID:625249 ClinVarID:Yes RefSeq:NM_000551.2 Mutation:Germline ExperimentalAssay SupplementalData NoFamilyInfo InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  4. jnnp.bmj.com jnnp.bmj.com
    The impact of molecular genetic analysis of theVHL gene in patients with haemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 01 Nov 2026
      nt 646 C/T* 145 Glu→stop E145stop Nonsense 3

      A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene, analyzed through peripheral blood by Southern blotting and SSCP analysis. This nonsense mutation (c.433C>T) was recorded in the paper as c.646C>T due to a difference in transcript sequence. It was found in 3 patients with hemangioblastomas of the central nervous system. Any family information or relations is unknown. No other phenotypes described.

      EvidenceStatement ClinVarID:625249 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf
  5. Oct 2026
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease
    1
    1. ClingenBaseline 28 Oct 2026
      Disease-associated genetic abnormalities were identified in all of the seven families examined.

      PatientID: proband

      KindredID: D

      Case: F, 34Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Family history is said to be positive, however no other members were given. The patient’s son was asymptomatic and negative for the mutation.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Patient had multiple hemangioblastoma of the CNS diagnosed at 34Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q145* (c.433C>T)

      LegacyVariant: p.Q145* (c.646C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625249 https://www.ncbi.nlm.nih.gov/clinvar/variation/625249/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q145* (c.433C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 AgeOfPresentation:hemangioblastoma:34 MutationType:stop_gained ProteinPosition:145 CivicName:Q145*(c.433C>T) cDNAposition:433 AminoAcidChange:GLNtoTER ClinVarID:625249 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21972040/