3 Matching Annotations
  1. Last 7 days
  2. academic-oup-com.proxy1.lib.uwo.ca academic-oup-com.proxy1.lib.uwo.ca
    Hemangioblastomas and Neurogenic Polyglobulia
    1
    1. ClingenBaseline 31 Oct 2026

      PatientID: 2

      KindredID: 2

      Case: M, 53Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006880; HP:0000107 (Cerebellar hemangioblastoma, Renal cyst)

      CaseHPOFreeText: Cerebellum hemangioblastoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S183* (c.548C>A)

      LegacyVariant: c.761C>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2215, https://www.ncbi.nlm.nih.gov/clinvar/variation/2215/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Preoperative hemoglobin: 17.9. Postoperative hemoglobin: 15.1.

      MutationType: stop_gained; missense_variant;transversion

      CivicName: S183* (c.548C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcyst AgeOfPresentation:cerebellarhemangioblastoma:53 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:548 ProteinPosition:183 AminoAcidChange:SERtoTER ClinVarID:2215 ClinVarID:Yes MutationType:stop_gained MutationType:missense_variant;transversion CivicName:S183*(c.548C>A) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic-oup-com.proxy1.lib.uwo.ca/neurosurgery/article/72/6/930/2417731
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 30 Oct 2026

      GroupID: 26

      Case: 61Y0M, 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 61Y, and RCC diagnosed at 53Y

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.N141Mfs*18 (c.422delA)

      LegacyVariant: p.N141Mfs*18 (c.421delA)

      CaseProblemVariantFreeText: Written in supply. table as c.421delA, this automaps to c.422delA due to redundancy in code

      ClinVarID: N/A

      CAID: CA432421876 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.421delA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: N141fs (c.422del) 

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:53 AgeOfPresentation:cerebellarhemangioblastoma:61 AminoAcidChange:ASNtoMET cDNAposition:422 ProteinPosition:141 CivicName:N141fs(c.422del) MutationType:minus_1_frameshift_variant RefSeq:NM_000551.2 ExperimentalAssay Mutation:Germline InheritancePattern:AutosomalDominant NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  4. Oct 2026
  5. www.sciencedirect.com www.sciencedirect.com
    Extraneuraxial hemangioblastoma: A clinicopathologic study of 10 cases with molecular analysis of the VHL gene
    1
    1. ClingenBaseline 25 Oct 2026
      Case 3 (intradural tumor of T7 spinal nerve roots), which was first thought to be sporadic (non-familial) in 2001, was then re-classified as “HB-only VHLD” (form fruste of VHLD) after the patient’s sister, aged 53, was diagnosed with cerebellar HB (in the sister a germline point mutation and 2 somatic point mutations were found in the DNA of the cerebellar HB, and the case was included as case HB-25 in another study [28]). To the best of our knowledge, this is the first case of a patient with “HB-only VHLD” having clinical expression outside CNS.

      PatientID: N/A

      KindredID: 3

      Case: F, 53Y0M, Italian

      DiseaseAssertion: VHL

      FamilyInfo: Sister was thought to be sporadic (non familial) in 2001 with a spinal T7 tumor - genetic testing in this paper describes her (the sister, case 3) without any mutations.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient had a single cerebellar hemangioblastoma that was diagnosed at age 53. She had a germline point and 2 somatic point mutations found in the DNA of her CHB. These mutations are discussed further in PMID: 24335534

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 24335534 (pt. HGB-25)

      SupplementalData: Supplemental Digital Content 1. Primer Sequences for VHL gene amplification, LOH and methylation analysis.

      Variant: p.D126Rfs*6 (c.375_376insA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573320316 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320316

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: P25L(c.74C>T) and D126Rfs*6(c.375_376insA) and E55Rfs(c.163delG)

      MultipleGeneVariants: Somatic, VHL, c.163delG (p.Glu55Argfs), Germline, VHL, c.74C>T (p.Pro25Leu)

      InheritancePattern:AutosomalDominant Mutation:Somatic Familial Ethnicity:Italian DiseaseEntity:VHL AgeOfPresentation:cerebellarhemangioblastoma:53 DiseaseEntity:cerebellarhemangioblastoma MultipleVHLVariants CAID:CA2573320316 ClinVarID:N/A MutationType:plus_1_frameshift_variant CivicName:P25L(c.74C>T)andD126Rfs*6(c.375_376insA)andE55Rfs(c.163delG) AminoAcidChange:ASPtoARG cDNAposition:375 ProteinPosition:126 AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0344033818303327