8 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population
    3
    1. ClingenBaseline 04 Nov 2026

      PatientID: 65

      KindredID: 65

      Case: Sex Unknown, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history is positive but no details provided.

      CasePresentingHPOs: HP:0010797; HP:0009711 (Hemangioblastoma, Retinal capillary hemangioma)

      CaseHPOFreeText: CNS hemangioblastoma and retinal hemangioblastoma.

      CaseNotHPOs: HP:0006770; HP:0002666; HP:0000107; HP:0001732 (Clear cell renal cell carcinoma, Pheochromocytoma, Renal cyst, Abnormality of the pancreas)

      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:retinalcapillaryhemangioma 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 02 Nov 2026

      PatientID: 204

      KindredID: 204

      Case: Sex Unknown, 45Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history is positive but no details provided.

      CasePresentingHPOs: HP:0010797; HP:0000107; HP:0001732 (Hemangioblastoma, Renal cyst, Abnormality of the pancreas)

      CaseHPOFreeText: CNS hemangioblastoma, renal cyst and pancreatic cyst or tumor.

      CaseNotHPOs: HP:0006770; HP:0002666; HP:0009711 (Clear cell renal cell carcinoma, Pheochromocytoma, 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:renalcyst 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
    3. ClingenBaseline 30 Oct 2026

      PatientID: 51

      KindredID: 51

      Case: Sex Unknown, 61Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

      CaseHPOFreeText: CNS hemangioblastoma.

      CaseNotHPOs: HP:0006770; HP:0002666; HP:0000107; HP:0001732; HP:0009711 (Clear cell renal cell carcinoma, Pheochromocytoma, Renal cyst, Abnormality of the pancreas, 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: Variant reported as “CP” in supplementary table S1 but this was assumed to be a typo intended to be “CD” (i.e. complete deletion).

      MutationType: deletion

      CivicName: Null (Complete deletion)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma 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) NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    1
    1. ClingenBaseline 02 Nov 2026
      10 (67)

      GroupID: 2a

      DiseaseAssertion: VHL

      GroupSize: 10

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: These 10/15 patients with a VHL gene deletion had retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes - Supplementary Table S1

      Variant: VHL gene deletion

      LegacyVariant: N/A

      GroupProblemVariantFreeText: 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 Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:Null(CompleteDeletion) MutationType:deletion AminoAcidChange:N/A ClinVarID:N/A ProteinPosition:N/A cDNAposition:N/A UnregisteredVariant DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:VHL NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14843
  4. Oct 2026
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    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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    pubmed.ncbi.nlm.nih.gov/21463266/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report
    1
    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
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    pubmed.ncbi.nlm.nih.gov/33471715/
  7. Jul 2026
  8. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    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

    pubmed.ncbi.nlm.nih.gov/33471715/