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  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
    1
    1. Vibhor 09 Jul 2026

      PatientID: 246

      KindredID: 246

      Case: Sex Unknown, 26Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0006770 (Hemangioblastoma, Retinal capillary hemangioma, Clear cell renal cell carcinoma)

      CaseHPOFreeText: CNS and retinal hemangioblastoma and clear cell renal cell carcinoma.

      CaseNotHPOs: HP:0002666; HP:0000107; HP:0001732 (Pheochromocytoma, Renal cyst, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished:N/A

      SupplementalData: Table S1, S2 and S3

      Variant: Partial Deletion (0.7kb)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: Partial deletion of 0.7kb

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:clearcellrenalcellcarcinoma 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:Partialdeletionof0.7kb Familial NoFamilyInfo SupplementalData ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    pubmed.ncbi.nlm.nih.gov/21463266/
  3. 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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    endocrinepractice.org/article/S1530-891X(20)48218-7/fulltext