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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    1
    1. ClingenBaseline 01 Nov 2026

      PatientID: None

      KindredID: 25

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584; HP:0001732; HP:0009711 (Renal cell carcinoma, Abnormality of the pancreas, Retinal capillary hemangioma)

      CaseHPOFreeText: Retinal angioma, renal cell carcinoma and pancreatic cyst or tumor (unspecified).

      CaseNotHPOs: HP:0010797 (Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8634692

      SupplementalData: N/A

      Variant: p.Q96_P97delinsH (c.288_290del)

      LegacyVariant: c.501_503del

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573106244, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.288_290del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion; deletion

      CivicName: Q96_P97delinsH (c.288_290del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:AF010238.1 cDNAposition:288 ProteinPosition:96 AminoAcidChange:GLNtoHIS ClinVarID:N/A CAID:CA2573106244 MutationType:deletion MutationType:inframe_deletion CivicName:Q96_P97delinsH(c.288_290del) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/