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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 29 Oct 2026

      GroupID: None

      KindredID: 16

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: American Admixed /Latino

      GroupAgeRange: N/A

      GroupInfo: Four members of a South American family expressed this 462-95T>A mutation.

      GroupPresentingHPOs: HP:0010797, HP:0002666 (hemangioblastoma,pheochromocytoma)

      GroupHPOFreeText:Two family members had hemangioblastoma of the central nervous system. Three had pheochromocytoma.

      GroupNotHPOs: HP:0002894, HP:0009711, HP:0005584 (neoplasm of the pancreas, retinal capillary hemangioma, renal cell carcinoma )

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.464-94T>A

      LegacyVariant: IVS2-95T>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1201249 https://www.ncbi.nlm.nih.gov/clinvar/variation/1201249/?oq=1201249&m=NM_000551.4(VHL):c.464-94T%3EA

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: intron_variant

      CivicName: R167Q(c.500G>A) and c.464-94T>A

      MultipleGeneVariants: Germline, VHL, c.500G>A (Arg167Glu)

      CivicName:R167Q(c.500G>A)andc.464-94T>A InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:missense_variant;transition cDNAposition:464 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:1201249 ClinVarID:Yes MultipleVHLVariants Familial Ethnicity:AmericanAdmixed/Latino FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/12624160/