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 06 Nov 2026

      GroupID: 4480

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 2 family members recorded with this mutation.

      GroupPresentingHPOs: HP:0009711; HP:0010797 (retinal capillary hemangioma, hemangioblastoma)

      GroupHPOFreeText: both (2) members had CNS hemangioblastoma, and 1 member had retinal angioma (hemangioma)

      GroupNotHPOs: HP:0002666; HP:0005584 (pheochromocytoma, renal cell carcinoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V166D (c.497T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L237D (c.710T>A)

      ClinVarID: 625254 https://www.ncbi.nlm.nih.gov/clinvar/variation/625254/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V166D (c.497T>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 ClinVarID:Yes ClinVarID:625254 InheritancePattern:AutosomalDominant Familial FamilyCohort CivicName:V166D(c.497T>A) ProteinPosition:166 cDNAposition:497 AminoAcidChange:VALtoASP MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  3. Oct 2026
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
    1
    1. ClingenBaseline 24 Oct 2026
      14 c.497T>C p.Val166Ala p.V166A Bilateral Pheo

      PatientID: None

      KindredID: 14

      Case: 15Y0M, F, Ethnicity Unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: The patient has no family history of VHL disease. Genetic testing reveals no mutation in patient's parents indicating that the mutation in patient is sporadic. This was further said to have occurred de novo.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: bilateral pheochromocytoma diagnosed at age 11 years. She was said to have single-organ involvement and did not fulfill diagnostic criteria of VHL. 

      CaseNotHPOs: HP:0009711; HP:0005584; HP:0010797; HP:0000107; HP:0001737 (retinal capillary hemangioma, renal cell carcinoma, hemangioblastoma, renal cyst, pancreatic cysts)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Previously reported, HGMD (Human Gene Mutation Database: http://uwcmml1s.uwcm.ac.uk/uwcm/mg/search/120488.html)

      SupplementalData: N/A

      Variant: p.V166A (c.497T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 43605 https://www.ncbi.nlm.nih.gov/clinvar/variation/43605/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: V166A (c.497T>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.2 ProteinPosition:166 AminoAcidChange:VALtoALA MutationType:missense_variant;transition cDNAposition:497 CivicName:V166A(c.497T>C) InheritancePattern:DeNovoAssertion deNovoConfirmed ClinVarID:43605 ClinVarID:Yes AgeOfPresentation:pheochromocytoma:11 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1399-0004.2007.00827.x
  5. May 2015
  6. shakespeare.mit.edu shakespeare.mit.edu
    Macbeth: Entire Play
    1
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    shakespeare.mit.edu/macbeth/full.html
  7. Dec 2013
  8. enridaga.github.io enridaga.github.io
    Untitled document
    1
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    enridaga.github.io/gapvis/gap2/