2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil
    1
    1. ClingenBaseline 23 Oct 2026

      GroupID: 5

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Family of 2 VHL Type 1 affected individuals.

      GroupPresentingHPOs: HP:0010797 (Hemangioblastoma)

      GroupHPOFreeText: CNS hemangioblastoma (2/2 affected members).

      GroupNotHPOs: HP:0002894; HP:0009711; HP:0002666; HP:0005584; HP:0009726 (Neoplasm of the pancreas, Retinal capillary hemangioma, Pheochromocytoma, Renal cell carcinoma, Renal neoplasm)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L101R (c.302T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351751004, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.302T%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L101R (c.302T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:302 ProteinPosition:101 AminoAcidChange:LEUtoARG ClinVarID:N/A CAID:CA351751004 MutationType:missense_variant;transversion CivicName:L101R(c.302T>G) FamilyCohort Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/12624160/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genetic characterization and protein stability analysis of a Chinese family with Von Hippel-Lindau disease
    1
    1. ClingenBaseline 23 Oct 2026
      PMID: 24112165 Item in Clipboard

      PatientID: 2 (II:2)

      KindredID: 1

      Case: F, 40Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: large family history of VHL was tested - 3 members found. The patient's brother and her daughter had the same mutation - Her brother (patient 1) was diagnosed with spinal hemangioblastoma, and at 43Y he was diagnosed with ccRCC in his right kidney

      CasePresentingHPOs: HP:0010797; HP:0006770; HP:0000107; HP:0001737 (hemangioblastoma, clear cell renal cell carcinoma; renal cysts; pancreatic cysts)

      CaseHPOFreeText: had cerebellum hemangioblastoma at 38Y and a neoplasm of both kidneys at 40Y, as well as ccRCC, renal and pancreatic cysts.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 22398592

      SupplementalData: N/A

      Variant: p.L101R (c.302T>G)

      LegacyVariant: L101R (c.515T>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351751004 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.302T%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L101R (c.302T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:38 Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:L101R(c.302T>G) cDNAposition:302 ProteinPosition:101 AminoAcidChange:LEUtoARG MutationType:missense_variant;transversion CAID:CA351751004 ClinVarID:N/A Familial FamilyPedigree ExperimentalAssay Ethnicity:Chinese inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/24112165/