4 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 04 Nov 2026

      GroupID: 3770

      DiseaseAssertion: assumed VHL

      GroupSize: 6

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 6 family members recorded with this mutation.

      GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0005584 (retinal capillary hemangioma, hemangioblastoma, renal cell carcinoma)

      GroupHPOFreeText: all members had CNS hemangioblastomas, 5 have RCC and 4 members had retinal angioma (hemangioma)

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 8956040

      SupplementalData: N/A

      Variant: p.E186* (c.556G>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.E257* (c.769G>T)

      ClinVarID: 381602 https://www.ncbi.nlm.nih.gov/clinvar/variation/381602/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: E186* (c.556G>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 InheritancePattern:AutosomalDominant ClinVarID:Yes ClinVarID:381602 Familial FamilyCohort CivicName:E186*(c.556G>T) cDNAposition:556 ProteinPosition:186 AminoAcidChange:GLUtoTER MutationType:stop_gained inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  3. www.sciencedirect.com www.sciencedirect.com
    Epididymal cystadenomas in von Hippel-Lindau disease
    2
    1. ClingenBaseline 03 Nov 2026

      56 male patients age 12 to 76 years, from 40 families with VHL were examined as part of a larger screening program for VHL. VHL mutations were identified in 16 families. Individual patient phenotype-genotype data was not available, but the mutations found and whether the corresponding patient had epididymal cystadenoma (EC) was reported. A p.E186* (c.556G>T) VHL mutation was found in a VHL patient without EC. This mutation was referred to in the paper as c.769G>T due to a difference in transcript sequence.

      ClinVarID:381602 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 01 Nov 2026

      GroupID: 10

      Case: M, Age unknown, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: Unknown

      CaseHPOFreeText: Other manifestations may be present although not matched with individuals so could not deduce.

      CaseNotHPOs: HP:0009715 (Papillary cystadenoma of the epididymis)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E186* (c.556G>T)

      LegacyVariant: p.E186* (c.769G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 381602 https://www.ncbi.nlm.nih.gov/clinvar/variation/381602/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: E186* (c.556G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant AssumedRefSeq:AF010238.1 Mutation:Germline DiseaseEntity:VHL cDNAposition:556 ProteinPosition:186 CivicName:E186*(c.556G>T) MutationType:stop_gained AminoAcidChange:GLUtoTER ClinVarID:381602 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0090429597000745
  4. Oct 2026
  5. 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 27 Oct 2026

      GroupID: 78

      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.E186* (c.556G>T)

      LegacyVariant: c.769G>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 381602, https://www.ncbi.nlm.nih.gov/clinvar/variation/381602/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: E186* (c.556G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:556 ProteinPosition:186 AminoAcidChange:GLUtoTER ClinVarID:381602 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:E186*(c.556G>T) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829911/