5 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.myaccess.library.utoronto.ca onlinelibrary-wiley-com.myaccess.library.utoronto.ca
    Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population
    2
    1. ClingenBaseline 26 Oct 2026

      PatientID: 384

      KindredID: 384

      Case: Sex Unknown, 40Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history is positive but no details provided.

      CasePresentingHPOs: HP:0001732; HP:0006770 (Abnormality of the pancreas, Clear cell renal cell carcinoma)

      CaseHPOFreeText: Clear cell renal cell carcinoma and pancreatic cyst or tumor.

      CaseNotHPOs: HP:0010797; HP:0002666; HP:0000107; HP:0009711 (Hemangioblastoma, Pheochromocytoma, Renal cyst, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished:N/A

      SupplementalData: Table S1, S2 and S3

      Variant: Complete Deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: Null (Complete deletion)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A CAID:N/A UnregisteredVariant MutationType:deletion CivicName:Null(Completedeletion) Familial NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 23 Oct 2026

      PatientID: 356

      KindredID: 356

      Case: Sex Unknown, 54Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history is positive but no details provided.

      CasePresentingHPOs: HP:0010797; HP:0001732 (Hemangioblastoma, Abnormality of the pancreas)

      CaseHPOFreeText: CNS hemangioblastoma and pancreatic cyst or tumor.

      CaseNotHPOs: HP:0006770; HP:0002666; HP:0000107; HP:0009711 (Clear cell renal cell carcinoma, Pheochromocytoma, Renal cyst, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished:N/A

      SupplementalData: Table S1, S2 and S3

      Variant: Complete Deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: Null (Complete deletion)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A CAID:N/A UnregisteredVariant MutationType:deletion CivicName:Null(Completedeletion) Familial NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    URL

    onlinelibrary-wiley-com.myaccess.library.utoronto.ca/doi/full/10.1111/j.1469-1809.2011.00647.x
  3. www.endocrinepractice.org www.endocrinepractice.org
    VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report
    2
    1. ClingenBaseline 21 Oct 2026
      16 different families

      PatientID: IX-I

      KindredID: 9

      Case: M, 68Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history reported.

      CasePresentingHPOs: HP:0006748; HP:0002668; HP:0030405; HP:0001737; HP:0006880 (adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, cerebellar hemangioblastoma)

      CaseHPOFreeText: Patient presented with adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, and cerebellar hemangioblastoma at age 55Y0M and was diagnosed with VHL type 2A (see table 2).

      CaseNotHPOs: HP:0000107; HP:0005584 (renal cyst; renal cell carcinoma)

      CaseNotHPOFreeText: Patient negative for renal cell carcinoma and renal cysts.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: complete deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: NULL (deletion)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:deletion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pancreaticcysts DiseaseEntity:cerebellarhemangioblastoma cDNAPosition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A NoFamilyInfo UnregisteredVariant CivicName:NULL(completedeletion) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      16 different families

      PatientID: IX-I

      KindredID: 9

      Case: M, 68Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history reported.

      CasePresentingHPOs: HP:0006748; HP:0002668; HP:0030405; HP:0001737; HP:0006880 (adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, cerebellar hemangioblastoma)

      CaseHPOFreeText: Patient presented with adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, and cerebellar hemangioblastoma at age 55Y0M and was diagnosed with VHL type 2A (see table 2).

      CaseNotHPOs: HP:0000107; HP:0005584 (renal cyst; renal cell carcinoma)

      CaseNotHPOFreeText: Patient negative for renal cell carcinoma and renal cysts.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: complete deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: NULL (deletion)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:deletion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pancreaticcysts DiseaseEntity:cerebellarhemangioblastoma cDNAPosition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A NoFamilyInfo UnregisteredVariant CivicName:NULL(completedeletion) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    endocrinepractice.org/article/S1530-891X(20)48218-7/fulltext
  4. Jul 2026
  5. www.endocrinepractice.org www.endocrinepractice.org
    VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report
    1
    1. Vibhor 09 Jul 2026
      16 different families

      PatientID: IX-I

      KindredID: 9

      Case: M, 68Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history reported.

      CasePresentingHPOs: HP:0006748; HP:0002668; HP:0030405; HP:0001737; HP:0006880 (adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, cerebellar hemangioblastoma)

      CaseHPOFreeText: Patient presented with adrenal pheochromocytoma, paraganglioma, pancreatic endocrine tumor, pancreatic cyst, and cerebellar hemangioblastoma at age 55Y0M and was diagnosed with VHL type 2A (see table 2).

      CaseNotHPOs: HP:0000107; HP:0005584 (renal cyst; renal cell carcinoma)

      CaseNotHPOFreeText: Patient negative for renal cell carcinoma and renal cysts.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: complete deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: NULL (deletion)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:deletion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pancreaticcysts DiseaseEntity:cerebellarhemangioblastoma cDNAPosition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A NoFamilyInfo UnregisteredVariant CivicName:NULL(completedeletion) ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    URL

    endocrinepractice.org/article/S1530-891X(20)48218-7/fulltext