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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype
    1
    1. ClingenBaseline 14 Nov 2026

      KindredID: 146

      GroupID: 2

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      DiseaseAssertion: VHL

      GroupInfo: Kindred no. 146 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene. No family history is provided.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: No phenotypic information is listed for this kindred.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.A56Sfs*76 (c.165_166insA)

      LegacyVariant: p.126FS (c.378insA)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA645524648, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.165_166insA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: A56fs (c.164_165insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 ProteinPosition:56 cDNAposition:164 AminoAcidChange:ALAtoSER ClinVarID:N/A CAID:CA432536366 MutationType:plus_1_frameshift_variant FamilyCohort CivicName:A56fs(c.164_165insA) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7987306/