3 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Long-term prognosis of haemangioblastoma of the CNS: impact of von Hippel-Lindau disease
    1
    1. ClingenBaseline 02 Nov 2026
      In the 14 VHL patients

      PatientID: Case 11

      KindredID: 11

      Case: Gender Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006880 (Cerebellar hemangioblastoma)

      CaseHPOFreeText: No individual phenotypic information was given.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98C(c.293A>G)

      LegacyVariant: N/A

      ClinVarID: 223176, http://www.ncbi.nlm.nih.gov/clinvar/variation/223176

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Y98C(c.293A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:293 ProteinPosition:98 AminoAcidChange:ALAtoGLY ClinVarID:Yes ClinVarID:223176 MutationType:missense_variant;transition CivicName:Y98C(c.293A>G) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/10592114/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
    1
    1. ClingenBaseline 31 Oct 2026
      variants of VHL in 18 probands

      PatientID: 5

      KindredID: 5

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family information provided.

      CasePresentingHPOs: HP:0002666; HP:0002668 (Pheochromocytoma; paraganglioma)

      CaseHPOFreeText: Patient had pheochromocytoma and/or paraganglioma (table 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98C (c.293A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223176, https://www.ncbi.nlm.nih.gov/clinvar/variation/223176/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant, transition

      CivicName: Y98C (c.293A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:paraganglioma DiseaseEntity:pheochromocytoma CivicName:Y98C(c.293A>G) cDNAPosition:293 ProteinPosition:98 AminoAcidChange:TYRtoCYS ClinVarID:Yes ClinVarID:223176 NoFamilyInfo MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8394264/
  4. Oct 2026
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel genotype–phenotype correlations in five Chinese families with Von Hippel–Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026
      ProbandMalec.293A>G; p.Try98Cys

      PatientID: 5

      KindredID: 5

      Case: M, 10Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: (See figure 3E for pedigree). The proband (Patient 5's) mother had left adrenal pheochromocytomas, and his grandmother had bilateral adrenal pheochromocytomas.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: Proband presented with bilateral adrenal pheochromocytoma

      CaseNotHPOs:None

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98C (c.293A>G)

      LegacyVariant: N/A

      CaseProblemVariant Free Text: N/A

      ClinVar: 223176, https://www.ncbi.nlm.nih.gov/clinvar/variation/223176/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_transition

      CivicName: Y98C (c.293A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoCYS ClinVarID:223176 MutationType:missense_variant;transition CivicName:Y98C(c.293A>G) Familial FamilyPedigree Ethnicity:Chinese ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6026882/