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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 13 Nov 2026

      GroupID: 174

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: VHL family found to have the c.543_544CA>TT (S111C) germline variant of the VHL gene. The number of family members included in this study is not specified.

      GroupPresentingHPOs: HP:0002666 (Pheochromocytoma)

      GroupHPOFreeText: Number of family affected members is not specified.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S111C (c.330_331delinsTT)

      LegacyVariant: c.543_544CA>TT

      CaseProblemVariantFreeText:

      ClinVarID: N/A

      CAID: CA2573106137, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.330_331delinsTT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName: S111C (c.330_331delinsTT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:330 ProteinPosition:111 AminoAcidChange:SERtoCYS ClinVarID:N/A CAID:CA2573106137 MutationType:delins CivicName:S111C(c.330_331delinsTT) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829911/