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    Higher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients
    1
    1. ClingenBaseline 05 Nov 2026
      Family 4−1c.275insCCdelAYes123––24––

      PatientID: None

      KindredID: 4

      Case: Unknown, 24Y0M, Chinese

      DiseaseAssertion:VHL

      FamilyInfo: None.

      CasePresentingHPOs: HP:0010797, HP:0001732 (hemangioblastoma, abnormality of the pancreas)

      CaseHPOFreeText:The patient presented with hemangioblastoma at age 23. One year later he/she was found to have pancreatic cysts or tumors.

      CaseNotHPOs: HP:0009711, HP:0002666, HP:0005584 (retinal capillary hemangioma, pheochromocytoma, renal cell carcinoma)

      CaseNotHPOFreeText: No epididymal/ovarian cystadenomas.

      CasePreviousTesting: N/A

      PreviouslyPublished: 29330336

      Variant: p.D92Afs*40(c.275delAinsCC)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA1139768933 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.275delAinsCC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName:D92fs(c.275delAinsCC)

      MultipleGeneVariants: N/A

      mutationtype:delins InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:Hemangioblastoma:23 AgeOfPresentation:abnormalityofthepancreas:24 cDNAposition:275 ProteinPosition:92 AminoAcidChange:ASPtoALA ClinVarID:N/A CAID:CA1139768933 CivicName:D92fs(c.275delAinsCC) NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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