4 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 7

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Croatian

      GroupAgeRange: N/A

      GroupInfo: 3 patients with the given mutation belonging to VHL family 7

      GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0000107; HP:0001737 (retinal capillary hemangioma, hemangioblastoma, renal cyst, pancreatic cysts)

      GroupHPOFreeText: all 3 patients has retinal capillary hemangiomas, but only 1 tally of hemangioblastomas of the central nervous system, renal cysts, and pancreatic cysts were listed.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+2T>C

      CaseProblemVariantFreeText: The mutation was referred to in the paper as c.676+2C>T - which was corrected to c.676+2T>C with a footnote indicating the correction in relation to Glavac et al Hum Mutat 1996.

      LegacyVariant: c.676+2C>T (or correction of c.676+2T>C)

      ClinVarID: 569414 https://www.ncbi.nlm.nih.gov/clinvar/variation/569414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.463+2T>C)

      MultipleGeneVariants: N/A

      Ethnicity:Croatian DiseaseEntity:VHL Mutation:Germline DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts RefSeq:AF010238.1 InheritancePattern:AutosomalDominant Familial FamilyCohort ClinVarID:569414 ClinVarID:Yes cDNAposition:463 MutationType:splice_site_variant CivicName:SpliceSite(c.463+2T>C) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    URL

    link.springer.com/article/10.1007/s004390050206
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The incidence of consecutive manifestations in Von Hippel-Lindau disease
    1
    1. ClingenBaseline 01 Nov 2026
      c.463 + 2T > C p.(?)1 (1%)131HBr, HBc, HBsc, RCC, Cr

      PatientID: None

      KindredID: 17

      Case: Sex Unknown, 31Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: All VHL mutation carriers of 18 years or older who underwent surveillance according to Dutch VHL guidelines between 1972 and 2012 in the VHL expertise centers University Medical Center Groningen (UMCG) and University Medical Center Utrecht (UMCU) were included. Patients with VHL-disease subtype 2C (pheochromocytoma only) were excluded.

      CasePresentingHPOs: HP:0009711; HP:0006880; HP:0009713; HP:0005584; HP:0000107 (Retinal capillary hemangioma, Cerebellar hemangioblastoma, Spinal hemangioblastoma, Renal cell carcinoma, Renal cyst)

      CaseHPOFreeText: VHL Type 1.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 24132471

      SupplementalData: Table 1

      Variant: c.463+2T>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 569414, https://www.ncbi.nlm.nih.gov/clinvar/variation/569414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.463+2T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:N/A cDNAposition:N/A AminoAcidChange:N/A ClinVarID:569414 ClinVarID:Yes MutationType:splice_site_variant CivicName:SpliceSite(c.463+2T>C) NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6560011/
  4. www.karger.com www.karger.com
    Growth Kinetics in Von Hippel-Lindau-Associated Renal Cell Carcinoma
    1
    1. ClingenBaseline 31 Oct 2026

      PatientID: 41

      KindredID: N/A

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: The authors evaluated 64 VHL patients (32 women and 32 men) with renal involvement of whom 54/64 had undergone renal surgery or a radiofrequency thermal ablation procedure for RCC. In 10/64 VHL patients, at least one or more RCC were diagnosed, however at the time of diagnosis an indication for treatment was not yet present. For all patients several CT/MRI scans existed for retrospective description of tumour growth kinetics.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: This is a tumor resolution study (VHL patients were investigated based on the presence of renal tumors.) No other phenotypic information is available.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S3 describes 9 patients with splice mutations, including this patient.

      Variant: c.463+2T>C

      LegacyVariant: c.676+2T>C

      CaseProblemVariantFreeText: N/A

      ClinVarID: 569414, https://www.ncbi.nlm.nih.gov/clinvar/variation/569414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.463+2T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL AssumedRefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma MutationType:splice_site_variant CivicName:SpliceSite(c.463+2T>C) ClinVarID:569414 ClinVarID:Yes NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    karger.com/Article/Abstract/333348
  5. Oct 2026
  6. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    1
    1. ClingenBaseline 22 Oct 2026
      2 Germany c.463+2T>C splice

      GroupID: 20

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: German

      GroupAgeRange: N/A

      GroupInfo: 2 registrants from Germany were grouped in this study via the mutation of c.463+2T>C

      GroupPresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      GroupHPOFreeText: N/A

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+2T>C

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 569414 https://www.ncbi.nlm.nih.gov/clinvar/variation/569414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.463+2T>C)

      MultipleGeneVariants: N/A

      ClinVarID:569414 ClinVarID:Yes DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline Ethnicity:German RefSeq:NM_000551.3 cDNAposition:463 CivicName:SpliceSite(c.463+2T>C) MutationType:splice_site_variant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    URL

    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067