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    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