3 Matching Annotations
  1. Oct 2026
  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
    1
    1. ClingenBaseline 27 Oct 2026
      2438Fnt 594, 595 GC to TT, Leu to PheP, 13775

      PatientID: 24

      KindredID: 3775

      Case: F, 39Y3M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with 1 radiographic pancreatic neuroendocrine tumor diagnosed at age 38Y. Follow up 15M after EN surgery, currently no evidence of disease.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L128F (c.381_382delinsTT)

      LegacyVariant: p.L>F (c.594_595GC>TT)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223203 https://www.ncbi.nlm.nih.gov/clinvar/variation/223203

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName: L128F (c.381_382delinsTT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:38 MutationType:delins ClinVarID:223203 ClinVarID:Yes ProteinPosition:128 AminoAcidChange:LEUtoPHE cDNAposition:381 cDNAposition:382 CivicName:L128F(c.381_382delinsTT) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.proxy1.lib.uwo.ca/science/article/pii/S0039606000070100
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 26 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 4783NCI

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Two germline familial VHL mutations were associated with this family. They were: c.382C>T and c.381G>T and this data was taken from the National Cancer Institute database. It is unclear how many members belonging to Family ID 4783NCI had both mutations. Table 4 lists all ID and mutations associated with individuals with pheochromocytoma.

      GroupPresentingHPOs: HP:0002666 (pheochromocytoma)

      GroupHPOFreeText: Described as a VHL family with pheochromocytoma. Other phenotypes are likely, including renal cell carcinoma, however not detailed here.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G127G (c.381G>T)

      LegacyVariant: p.G127G (c.594G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432421824 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.381G>T

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion; synonymous_variant

      CivicName: G127G (c.381G>T)

      MultipleGeneVariants: Germline, VHL, c.382C>T (p.Leu128Phe)

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:pheochromocytoma cDNAposition:381 ProteinPosition:127 AminoAcidChange:GLYtoGLY CivicName:G127G(c.381G>T) MutationType:missense_variant;transversion MutationType:synonymous_variant CAID:CA432421824 ClinVarID:N/A MultipleVHLVariants Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8956040/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional and Oncologic Outcomes of Partial Adrenalectomy for Pheochromocytoma in VHL Patients After at Least 5 Years of Follow Up
    1
    1. ClingenBaseline 21 Oct 2026
      MSL128F1 (5.6)1 (3.8)

      GroupID: 8

      Case: Age, Sex, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 1 individual belonging to 1 family was mentioned with this VHL mutation. No other family info was provided.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Other manifestations aside from pheochromocytoma are possible; but not specified.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L128F (c.381_382delinsTT)

      CaseProblemVariantFreeText: Paper called "L" Lysine but it matches to Leucine in all 3 cases. Likely an error in word choice by authors.

      LegacyVariant: N/A

      ClinVarID: 223203 https://www.ncbi.nlm.nih.gov/clinvar/variation/223203

      CAID: CA357088 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.381_382delinsTT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName: L128F (c.381_382delinsTT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Familial AssumedRefSeq:AF010238.1 AminoAcidChange:LEUtoPHE ProteinPosition:128 cDNAposition:381 CivicName:L128F(c.381_382delinsTT) MutationType:delins ClinVarID:223203 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3164541/