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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 30 Oct 2026

      PatientID: None

      KindredID: 4410

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Familial VHL stated; although only 1 family member recorded.

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129_V130insGlu (c.386_387insAGA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.200insE (c.599insAGA)

      ClinVarID: N/A

      CAID: CA16602182 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.386_387insAGA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_insertion

      CivicName: L129Q (c.386insAGA)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Mutation:Germline ClinVarID:N/A CAID:CA16602182 InheritancePattern:AutosomalDominant NoFamilyInfo RefSeq:AF010238.1 ProteinPosition:129 cDNAposition:386 MutationType:inframe_insertion AminoAcidChange:LEUtoVAL CivicName:L129Q(c.386insAGA) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109