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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil
    1
    1. ClingenBaseline 09 Nov 2026

      GroupID: 8

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Family of 2 VHL Type 1 affected individuals.

      GroupPresentingHPOs: HP:0010797 (Hemangioblastoma)

      GroupHPOFreeText: CNS hemangioblastoma (2/2 affected members).

      GroupNotHPOs: HP:0009711; HP:0002894; HP:0002666; HP:0005584 (Retinal capillary hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+7G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573131791, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573131791

      gnomAD: N/A

      VariantEvidence: Variant reported as IVS1+7G>A which is assumed to be equivalent to c.340+7G>A. This variant was not found in 120 alleles from normal subjects in the Brazilian population.

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: c.340+7G>A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A CAID:CA2573131791 MutationType:missense_variant;transition MutationType:splice_site_variant CivicName:c.340+7G>A FamilyCohort Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/12624160/