2 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    1
    1. Vibhor 09 Jul 2026
      4 partial deletions

      GroupID/ KindredID: 22

      Case: Age unknown, Sex unknown, Chinese

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: No family history. Genetic testing of their parents confirmed a de novo mutation.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666; HP:0005584; HP:0009711; HP:0001732 (pheochromocytoma; renal cell carcinoma; retinal capillary hemangioma; pancreatic lesion)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 1 deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: exon_loss_variant

      CivicName: Exon 1 Deletion

      MultipleGeneVariants: N/A

      Mutation:Germline DiseaseEntity:hemangioblastoma InheritancePattern:DeNovoAssertion deNovoConfirmed RefSeq:AF010238.1 CivicName:Exon1Deletion MutationType:exon_loss_variant NonFamilial Ethnicity:Chinese CAID:N/A ClinVarID:N/A ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    link.springer.com/article/10.1007/s00432-008-0399-x
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. Vibhor 09 Jul 2026

      GroupID/ KindredID: F28

      Case: Sex unknown, 23Y0M, Spanish

      DiseaseAssertion: assumed VHL

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

      CasePresentingHPOs: HP:0000107; HP:0009711; HP:0006880; HP:0006770; HP:0002666 (renal cysts, retinal capillary hemangioma, cerebellar hemangioblastoma, clear cell renal cell carcinoma, pheochromocytoma)

      CaseHPOFreeText: unilateral pheo, bilateral ccRCC and multiple lesions were found with the patient’s renal cysts. Age of onset is 23Y0M.

      CaseNotHPOs: HP:0001737 (pancreatic cysts)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: rearrangement (unspecified)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Southern blot positive

      MutationType: rearrangement_region

      CivicName: Rearrangement

      MultipleGeneVariants: N/A

      DiseaseEntity:renalcyst DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:pheochromocytoma Ethnicity:Spanish Mutation:Germline InheritancePattern:AutosomalDominant UnregisteredVariant CAID:N/A ClinVarID:N/A CivicName:rearrangement MutationType:rearrangement_region Familial ExperimentalAssay RefSeq:AF010238.1 ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309