3 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
    1
    1. ClingenBaseline 03 Nov 2026

      PatientID: 351

      KindredID: 351

      Case: Sex Unknown, 40Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history noted but no details provided.

      CasePresentingHPOs: HP:0010797; HP:0000107 (Hemangioblastoma, Renal cyst)

      CaseHPOFreeText: CNS hemangioblastoma and renal cystic lesion.

      CaseNotHPOs: HP:0009711; HP:0006770; HP:0002666; HP:0001732 (Retinal capillary hemangioma, Clear cell renal cell carcinoma, Pheochromocytoma, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 19464396

      SupplementalData: Table S1, S2 and S3

      Variant: p.I109Tfs*50 (c.326del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA658820709, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.326del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: I109fs (c.326delT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst Mutation:Germline RefSeq:NM_000551.3 cDNAposition:326 ProteinPosition:109 AminoAcidChange:ILEtoTHR ClinVarID:N/A CAID:CA658820709 MutationType:minus_1_frameshift_variant MutationType:deletion CivicName:I109fs(c.326delT) Familial NoFamilyInfo SupplementalData ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  3. www.sciencedirect.com www.sciencedirect.com
    Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease
    1
    1. ClingenBaseline 31 Oct 2026
      Table 1

      PatientID: N/A

      KindredID: 23

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Family history not mentioned. Patient’s variant reported as germline.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Patient had CNS-HB; other phenotype unknown (see table 1).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 10567493

      SupplementalData: N/A

      Variant: p.I151T (c.452T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428803, www.ncbi.nlm.nih.gov/clinvar/variation/428803/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: I151T (c.452T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition DiseaseEntity:hemangioblastoma AssumedRefSeq:NM_000551.3 cDNAposition:452 ProteinPosition:151 CivicName:I151T(c.452T>C) ClinVarID:Yes ClinVarID:428803 NoFamilyInfo AminoAcidChange:ILEtoTHR inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/abs/pii/S2210776220301460
  4. Oct 2026
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the vhl gene in patients presenting with phaeochromocytomas
    1
    1. ClingenBaseline 26 Oct 2026

      PatientID: 19

      KindredID: 19

      Case: F, 72Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: Unilateral benign adrenal pheochromocytoma that was operated on at age 58.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.I147T (c.440T>C)

      LegacyVariant: I147T (c.653T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 411964, https://www.ncbi.nlm.nih.gov/clinvar/variation/411964/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as I147T (c.653T>C), legacy nomenclature (AF010238.1), and was mapped to p.Ile147Thr (c.440T>C) in accordance with reference sequence NM_000551.3.

      MutationType: missense_variant;transition

      CivicName: I147T (c.440T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:440 ProteinPosition:147 AminoAcidChange:ILEtoTHR ClinVarID:411964 ClinVarID:Yes MutationType:missense_variant;transition CivicName:I147T(c.440T>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9663592/