2 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    1
    1. ClingenBaseline 03 Nov 2026
      5 nonsenses

      GroupID/ KindredID: 15

      DiseaseAssertion: assumed VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Chinese

      GroupAgeRange: N/A

      GroupInfo: With a family history, 4 family members were recorded in this group with the given mutation.

      GroupPresentingHPOs: HP:0010797; HP:0009711; HP:0005584; HP:0001732 (hemangioblastoma; retinal capillary hemangioma; renal cell carcinoma; pancreatic lesion)

      GroupHPOFreeText: 2 members had CNS hemangioblastomas, 2 had a retinal angiomas, 2 had RCC, 1 had a pancreatic abnormality

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: No family members appeared to have the above manifestation.

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W117* (c.351G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.W117* (c.564G>A)

      ClinVarID: N/A

      CAID: CA351753679 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.351G%3EA

      gnomAD: 0.000003976 https://gnomad.broadinstitute.org/variant/3-10188208-G-A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W117* (c.351G>A)

      MultipleGeneVariants: N/A

      Mutation:Germline DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas AminoAcidChange:TRPtoTER MutationType:stop_gained ProteinPosition:117 cDNAposition:351 CivicName:W117*(c.351G>A) Familial FamilyCohort InheritancePattern:AutosomalDominant Ethnicity:Chinese inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    URL

    link.springer.com/article/10.1007/s00432-008-0399-x
  3. Oct 2026
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
    1
    1. ClingenBaseline 25 Oct 2026
      VHL kindreds for germline mutations and calculated the age related tumour risks for different classes of VHL gene mutations.

      PatientID: None

      KindredID: 97

      Case: Age, sex ethnicity unknown

      DiseaseAssertion: unknown; paper focused only on pheochromocytoma

      FamilyInfo: No specific family info was present; although this was recorded as a family germline mutation belonging to Family ID 97

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Unknown

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: No presence of phaeochromocytoma in family

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W117* (c.351G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.W117* (c.564G>A)

      ClinVarID: N/A

      CAID: CA351753679 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.351G%3EA

      gnomAD: 0.000003976 https://gnomad.broadinstitute.org/variant/3-10188208-G-A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W117* (c.351G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 cDNAposition:351 CivicName:W117*(c.351G>A) ProteinPosition:117 AminoAcidChange:TRPtoTER MutationType:stop_gained DiseaseEntity:asymptomatic Familial CAID:CA351753679 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1050584/