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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
    1
    1. ClingenBaseline 22 Oct 2026

      GroupID: 11

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: VHL family found to have a germline rearrangement of the VHL gene. The number of family members included in this study is not specified.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease, however, the presenting phenotypes were not specified.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93_Y98del (c.277_294del)

      LegacyVariant: c.488_490del18bp

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA891843321, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.275_292del

      gnomAD: N/A

      VariantEvidence: Variant reported as c.488_90del18bp and mapped to c.275_292del (equivalent to c.277_294del).

      MutationType: deletion; inframe_deletion

      CivicName: G93_Y98del (c.275_292del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:277 ProteinPosition:93 AminoAcidChange:GLYtoPRO ClinVarID:N/A CAID:CA891843321 MutationType:inframe_deletion MutationType:deletion CivicName:G93_Y98del(c.275_292del) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829911/