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    Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene
    2
    1. ClingenBaseline 21 Oct 2026
      The missense mutation p.Arg167Gln in VHL exon 3 was detected in an index female (patient #2) and her mother

      PatientID: None

      KindredID: 2

      Case: F, Age unknown, Bulgarian

      DiseaseAssertion: VHL

      FamilyInfo: Patient has a daughter (PatientID: 1) with bilateral pheo and retinal hemangioma as well.

      CasePresentingHPOs: HP:0002666; HP:0009711 (pheochromocytoma, retinal capillary hemangioma)

      CaseHPOFreeText: bilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Bulgarian DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:NM_000551.3 CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes MutationType:missense_variant;transition Familial DiseaseEntity:VHL inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      The missense mutation p.Arg167Gln in VHL exon 3 was detected in an index female (patient #2) and her mother

      PatientID: None

      KindredID: 2

      Case: F, Age unknown, Bulgarian

      DiseaseAssertion: VHL

      FamilyInfo: Patient has a daughter (PatientID: 1) with bilateral pheo and retinal hemangioma as well.

      CasePresentingHPOs: HP:0002666; HP:0009711 (pheochromocytoma, retinal capillary hemangioma)

      CaseHPOFreeText: bilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Bulgarian DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:NM_000551.3 CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes MutationType:missense_variant;transition Familial DiseaseEntity:VHL inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    tandfonline.com/doi/full/10.1080/00207454.2017.1372436