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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 14 Nov 2026

      GroupID: 13

      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.L118Hfs*14 (c.352_353insA)

      LegacyVariant: c.565_566insA

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223198, https://www.ncbi.nlm.nih.gov/clinvar/variation/223198/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: insertion; plus_1_frameshift_variant

      CivicName: L118fs (c.352_353insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:352 ProteinPosition:118 AminoAcidChange:LEUtoHIS ClinVarID:223198 ClinVarID:Yes MutationType:plus_1_frameshift_variant MutationType:insertion CivicName:L118fs(c.352_353insA) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829911/