4 Matching Annotations
  1. Last 7 days
  2. www-sciencedirect-com.proxy1.lib.uwo.ca www-sciencedirect-com.proxy1.lib.uwo.ca
    Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease
    2
    1. ClingenBaseline 04 Nov 2026
      726Fnt 393 del G, codon 137 exon 1, stopR, 12656

      PatientID: 7

      KindredID: 2656

      Case: F, 26Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Another member of her family (patient 8) also presented with pancreatic endocrine tumour.

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with one pathologic pancreatic neuroendocrine tumors.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V62Cfs*5 (c.180delG)

      LegacyVariant: p.V62Cfs*5 (c.393delG)

      CaseProblemVariantFreeText: N/A

      ClinVar: 182986 https://www.ncbi.nlm.nih.gov/clinvar/variation/182986/

      CAID: CA020069 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.180delG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: V62Cfs*5 (c.180delG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:26 Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:180 ProteinPosition:62 AminoAcidChange:VALtoCYS CAID:CA020069 MutationType:minus_1_frameshift_variant CivicName:V62Cfs*5(c.180delG) Familial ClinVarID:182986 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 2026
      842Fnt 393 del G, codon 137 exon 1, stop

      PatientID: 8

      KindredID: 2656

      Case: F, 42Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Another member of her family (patient 7) also presented with pancreatic endocrine tumour.

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with one radiologic pancreatic neuroendocrine tumors.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V62Cfs*5 (c.180delG)

      LegacyVariant: p.V62Cfs*5 (c.393delG)

      CaseProblemVariantFreeText: N/A

      ClinVar: 182986 https://www.ncbi.nlm.nih.gov/clinvar/variation/182986/

      CAID: CA020069 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.180delG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: V62Cfs*5 (c.180delG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:42 AssumedRefSeq:AF010238.1 Mutation:Germline MutationType:minus_1_frameshift_variant cDNAposition:180 ProteinPosition:62 AminoAcidChange:VALtoCYS Familial CAID:CA020069 CivicName:V62Cfs*5(c.180delG) ClinVarID:182986 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    www-sciencedirect-com.proxy1.lib.uwo.ca/science/article/pii/S0039606000070100
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
    1
    1. ClingenBaseline 03 Nov 2026

      GroupID: 175

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: VHL family found to have a germline rearrangement of the VHL gene. The number of family members included in this study is not specified.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease, however, the presenting phenotypes were not specified.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: Stated as being previously reported in PMID 7728151 and/or 8956040. Both these reports include a family presenting with this variant and it is unclear if one or both coincide with the current family.

      SupplementalData: N/A

      Variant: p.V62Cfs*5 (c.180del)

      LegacyVariant: c.393delG

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182986, https://www.ncbi.nlm.nih.gov/clinvar/variation/182986/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: V62Cfs*5 (c.180del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:180 ProteinPosition:62 AminoAcidChange:VALtoCYS ClinVarID:182986 ClinVarID:Yes MutationType:deletion MutationType:minus_1_frameshift_variant CivicName:V62Cfs*5(c.180del) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829911/
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 01 Nov 2026

      GroupID: 3616

      DiseaseAssertion: assumed VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 4 family members recorded with this mutation.

      GroupPresentingHPOs: HP:0009711; HP:0005584 (retinal capillary hemangioma, renal cell carcinoma)

      GroupHPOFreeText: 2/4 members had retinal angiomas (hemangiomas), and 2/4 had RCC

      GroupNotHPOs: HP:0010797; HP:0002666 (hemangioblastoma, pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V155Cfs*4 (c.462delA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.225fs (c.675delA)

      ClinVarID: 625251 https://www.ncbi.nlm.nih.gov/clinvar/variation/625251/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: V155fs (c.462delA)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 InheritancePattern:AutosomalDominant Familial FamilyCohort ClinVarID:625251 ClinVarID:Yes cDNAposition:462 ProteinPosition:155 AminoAcidChange:VALtoCYS MutationType:minus_1_frameshift_variant CivicName:V155fs(c.462delA) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109