5 Matching Annotations
  1. Last 7 days
  2. 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 27 Oct 2026
      nt 553+1 G/A* splice defect 553+1 G/A Splice defect 1

      PatientID: 18

      GroupID/ KindredID: 18

      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: c.340+1G>A

      LegacyVariant: c.553+1G>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190 http://www.ncbi.nlm.nih.gov/clinvar/variation/223190

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma NoFamilyInfo Mutation:Germline ClinVarID:Yes ClinVarID:223190 AssumedRefSeq:AF010238.1 CivicName:SpliceSite(c.340+1G>A) cDNAposition:340 MutationType:splice_site_variant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf
  3. journals.lww.com journals.lww.com
    Endocrine Pancreatic Tumors in von Hippel-Lindau Disease:... : Pancreas
    1
    1. ClingenBaseline 27 Oct 2026
      3 splice site mutations

      Among patients prospectively followed by the members of the French VHL Study Group, 35 consecutive patients with well-documented endocrine pancreatic tumour (20 women and 15 men; median age,37 [21Y-57] years) were included. The data from 7 patients with EPT have been partially reported previously in Hammel et al., 1995;2000. All 35 patients had VHL germline mutations and were assessed for the presence of pheochromocytoma and renal carcinome in addition to pancreatic tumours. The presence of other phenotypes was not described. A germline splice mutation (c.340+1G>A) was found in patient no 23 from family 582. The patient presented with pancreatic endocrine tumour and renal carcinoma. The patient's phenotypes are highly specific to VHL disease (PP4) and a splice alternation may be supportive of PVS1.

      ClinVarID:223190 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals.lww.com/pancreasjournal/fulltext/2008/07000/endocrine_pancreatic_tumors_in_von_hippel_lindau.13.aspx
  4. journals-scholarsportal-info.myaccess.library.utoronto.ca journals-scholarsportal-info.myaccess.library.utoronto.ca
    Genotype–phenotype analysis of von Hippel–Lindau syndrome in fifteen Indian families
    2
    1. ClingenBaseline 25 Oct 2026
      AD 7 27 M ? ? - - - - - c.340 ? 1 G[A p.G114D b

      PatientID: 7

      KindredID: AD

      Case: M, 27Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737 (Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions.

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Renal cell carcinoma, Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

      Ethnicity:Indian InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:114 AminoAcidChange:GLYtoASP ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:G114D(c.340+1G>A)andc.340+5G>C Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 24 Oct 2026
      AD 13 50 M ? ? - - ? - - c.340 ? 1 G[A p.G114D b

      PatientID: 13

      KindredID: AD

      Case: M, 50Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584; HP:0001737 (Renal cell carcinoma, Pancreatic cysts)

      CaseHPOFreeText: Multi-cystic pancreatic lesions, RCC.

      CaseNotHPOs: HP:0002666; HP:0030393; HP:0009711; HP:0010797 (Pheochromocytoma, Endolymphatic sac tumor, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114D (c.340+1G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190, https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; missense_variant;transition

      CivicName: G114D (c.340+1G>A) and c.340+5G>C

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:114 AminoAcidChange:GLYtoASP ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant MutationType:missense_variant;transition CivicName:G114D(c.340+1G>A)andc.340+5G>C Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    journals-scholarsportal-info.myaccess.library.utoronto.ca/pdf/13899600/v14i0004/585_gaovhsifif.xml
  5. hccpjournal.biomedcentral.com hccpjournal.biomedcentral.com
    Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas
    1
    1. ClingenBaseline 22 Oct 2026
      IVS1+1G>A Splice Germline mutation

      PatientID: 37

      KindredID: 37

      Case: Age, sex, ethnicity unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+1G>A

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223190 https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 Mutation:Germline DiseaseEntity:hemangioblastoma ClinVarID:223190 ClinVarID:Yes MutationType:splice_site_variant CivicName:SpliceSite(c.340+1G>A) cDNAposition:340 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    hccpjournal.biomedcentral.com/article/10.1186/1897-4287-2-2-93/tables/1