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  2. journals.lww.com journals.lww.com
    Six weeks into the 2019 coronavirus disease (COVID-19)... : Chinese Medical Journal
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    1. ClingenBaseline 04 Nov 2026

      PatientID: 16

      KindredID: 16

      Case: F, 50Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009726; HP:0010797 (Renal neoplasm, Hemangioblastoma)

      CaseHPOFreeText: Patient 16 had genetic testing and was found to have a germline mutation c.286C>T (Gln96*).

      CaseNotHPOs:None

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q96* (c.286C>T)

      LegacyVariant: c.499C>T

      CaseProblemVariantFreeText: N/A

      ClinVar: 428804, https://www.ncbi.nlm.nih.gov/clinvar/variation/428804/

      CAID: CA351750811

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_transition

      CivicName: Q96* (c.286C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma DiseaseEntity:renalneoplasm DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:286 ProteinPosition:96 AminoAcidChange:GLNtoTER ClinVarID:428804 CAiD:CA351750811 MutationType:missense_variant;transition CivicName:Q96*(c.286C>T) Familial ClinVarID:Yes Ethnicity:Chinese inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/cmj/fulltext/2007/11020/management_of_solid_renal_tumour_associated_with.22.aspx