4 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    2
    1. ClingenBaseline 21 Oct 2026
      c.99_100InsA*

      PatientID: None (XIII)

      KindredID: 7

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: asymptomatic

      FamilyInfo: Total of 13 family members belonging to Family 7 (see Table 2; or follow KindredID 7)

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.G34Rfs*98 (c.99_100insA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2018007671 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2018007671

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: G34Rfs (c.99_100insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:34 cDNAposition:99 CivicName:G34Rfs(c.99_100insA) AminoAcidChange:GLYtoARG MutationType:plus_1_frameshift_variant CAID:CA2018007671 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      c.99_100InsA*

      PatientID: None (XIII)

      KindredID: 7

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: asymptomatic

      FamilyInfo: Total of 13 family members belonging to Family 7 (see Table 2; or follow KindredID 7)

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.G34Rfs*98 (c.99_100insA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2018007671 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2018007671

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: G34Rfs (c.99_100insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:34 cDNAposition:99 CivicName:G34Rfs(c.99_100insA) AminoAcidChange:GLYtoARG MutationType:plus_1_frameshift_variant CAID:CA2018007671 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/
  3. academic-oup-com.proxy1.lib.uwo.ca academic-oup-com.proxy1.lib.uwo.ca
    Natural History of Supratentorial Hemangioblastomas in von Hippel-Lindau Disease
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 8

      KindredID: 8

      Case: M,35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Thirteen patients with a supratentorial hemangioblastoma.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: The patient had a meckel cave hemangioblastoma at age 28. The patient had a papillary edema and pituitary stalk hemangioblastoma at age 34. The patient died of VHL disease.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline NoFamilyInfo DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:28 AgeOfPresentation:hemangioblastoma:34 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes MutationType:stop_gained AssumedRefSeq:NM_000551.3 AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 8

      KindredID: 8

      Case: M,35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Thirteen patients with a supratentorial hemangioblastoma.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: The patient had a meckel cave hemangioblastoma at age 28. The patient had a papillary edema and pituitary stalk hemangioblastoma at age 34. The patient died of VHL disease.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline NoFamilyInfo DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:28 AgeOfPresentation:hemangioblastoma:34 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes MutationType:stop_gained AssumedRefSeq:NM_000551.3 AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    URL

    academic-oup-com.proxy1.lib.uwo.ca/neurosurgery/article/67/3/577/2556950