3 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1
    1. ClingenBaseline 03 Nov 2026

      GroupID/ KindredID: VHL 44

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: German

      GroupAgeRange: N/A

      GroupInfo: 2 patients with the given mutation belonging to VHL family 44

      GroupPresentingHPOs: HP:0010797; HP:0005584; HP:0000107; HP:0001737; HP:0009715; HP:0012028 (hemangioblastoma, renal cell carcinoma, renal cyst, pancreatic cysts, Hepatic adenoma)

      GroupHPOFreeText: both patients had hemangioblastomas, renal cell carcinomas, renal cysts, and pancreatic cysts. Hepatic adenoma was also listed as an additional complication

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129fs*30 (c.384delT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L129fs*30 (c.597delT)

      ClinVarID: N/A

      CAID: CA70049452 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: L129fs (c.384delT)

      MultipleGeneVariants: N/A

      Ethnicity:German Mutation:Germline DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:hepaticadenoma RefSeq:AF010238.1 ProteinPosition:129 cDNAposition:384 CivicName:L129fs(c.384delT) AminoAcidChange:LEUtoTRP MutationType:minus_1_frameshift_variant InheritancePattern:AutosomalDominant Familial FamilyCohort CAID:CA70049452 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    URL

    link.springer.com/article/10.1007/s004390050206
  3. jnnp.bmj.com jnnp.bmj.com
    The impact of molecular genetic analysis of theVHL gene in patients with haemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 03 Nov 2026
      nt 597 Del. T 128 FS 597delT Frameshift 1

      PatientID: 21

      GroupID/ KindredID: 21

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: other phenotypes unknown.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129W*30 (c.384delT)

      LegacyVariant: (c.597delT)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049452 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: L129fs (c.384delT)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:N/A CAID:CA70049452 NoFamilyInfo ProteinPosition:129 cDNAposition:384 MutationType:minus_1_frameshift_variant AminoAcidChange:LEUtoTRP CivicName:L129fs(c.384delT) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf
  4. Oct 2026
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
    1
    1. ClingenBaseline 28 Oct 2026
      FMother3c.592delCp.Leu198Trpfs*42C–––2748, M–+19

      PatientID: Mother

      KindredID: 12

      Case: F, 48Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Daughter presented with the same variant and pheochromocytoma at 24Y, multiple pancreatic lesions (pancreatic cyst or tumor, unspecified) at 21Y.

      CohortInfo: Thirteen unrelated patients with germline VHL mutations who were diagnosed with VHL disease were evaluated.

      CasePresentingHPOs: HP:0001732; HP:0002666 (Abnormality of the pancreas, Pheochromocytoma)

      CaseHPOFreeText: Pheochromocytoma at 27Y, multiple pancreatic lesions (pancreatic cyst or tumor, unspecified) at 48Y a developmental venous anomaly or meningioma (unspecified). Diagnosed with VHL Type 2C.

      CaseNotHPOs: HP:0010797; HP:0005584; HP:0009711; HP:0000107 (Hemangioblastoma, Renal cell carcinoma, Retinal capillary hemangioma, Renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L198Wfs*4 (c.592del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432423813, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.592del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: L198fs (c.592del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:pheochromocytoma AgeOfPresentation:pancreaticcysts:27 AgeOfPresentation:pheochromocytoma:48 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:592 ProteinPosition:198 AminoAcidChange:LEUtoTRP ClinVarID:N/A CAID:CA432423813 MutationType:deletion MutationType:minus_1_frameshift_variant CivicName:L198fs(c.592del) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4955248/