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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic analysis of von Hippel-Lindau disease
    1
    1. ClingenBaseline 31 Oct 2026

      PatientID: N/A

      KindredID: 401

      Case: Age unknown, Sex unknown, Ethnicity unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Paper states: Germline, de novo (no clear confirmation)

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: multiple bilateral retinal capillary hemangiomas

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes (Specifically Supp. Table S2)

      Variant: p.F148* (c.443_455delinsA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: stated as a p.F148fs (del/ins/FS), however stop_gained rather than frameshift is the protein result

      ClinVarID: N/A

      CAID: CA2573050544 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573050544

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName: F148* (c.443_455delinsA)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:VHL NonFamilial DiseaseEntity:retinalcapillaryhemangioma ProteinPosition:148 cDNAposition:443 cDNAposition:445 MutationType:delins CivicName:F148*(c.443_455delinsA) AminoAcidChange:PHEtoTER CAID:CA2573050544 ClinVarID:N/A ExperimentalAssay Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.21219