2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 27 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 28BMS

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the Bristol Myers Squibb database, with an unknown number of members belonging to family ID: Family 28BMS. Table 5 lists all ID and mutations associated with individuals without detailed clinical information.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Described as multiple VHL families without detailed clinical information. Other phenotypes are possible, however not detailed here.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: (c.464-2A>G)

      LegacyVariant: Splice (c.677-2A>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223222 https://www.ncbi.nlm.nih.gov/clinvar/variation/223222/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by truncating the protein.

      MutationType: splice_site_variant

      CivicName: Splice Site (c.464-2A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:VHL cDNAposition:464 CivicName:SpliceSite(c.464-2A>G) MutationType:splice_site_variant ClinVarID:223222 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  3. link.springer.com link.springer.com
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1
    1. ClingenBaseline 27 Oct 2026

      GroupID/ KindredID: VHL 31

      Case: Sex unknown, Age unknown, Italian

      DiseaseAssertion: assumed VHL

      FamilyInfo: One patient with the given mutation is stated to belong to VHL family 31 - this was said to be not inherited from either parent, indicating a de novo germline mutation.

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0000107; HP:0005584; HP:0001737; HP:0009715 (retinal capillary hemangioma, hemangioblastoma, renal cyst, renal cell carcinoma, pancreatic cysts, papillary cystadenoma of the epididymis)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.464-2A>G

      CaseProblemVariantFreeText: N/A

      LegacyVariant: c.677-2A>G

      ClinVarID: 223222 https://www.ncbi.nlm.nih.gov/clinvar/variation/223222/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.464-2A>G)

      MultipleGeneVariants: N/A

      Ethnicity:Italian DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:papillarycystadenomaoftheepididymis MutationType:splice_site_variant CivicName:SpliceSite(c.464-2A>G) cDNAposition:464 ClinVarID:Yes ClinVarID:223222 InheritancePattern:DeNovoAssertion deNovoConfirmed NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206