3 Matching Annotations
  1. Oct 2026
  2. jmg.bmj.com jmg.bmj.com
    Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
    1
    1. ClingenBaseline 29 Oct 2026
      233A>T

      GroupID/ KindredID: 10

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Polish

      GroupAgeRange: N/A

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

      GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0005584 (retinal capillary hemangioma, hemangioblastoma; renal cell carcinoma)

      GroupHPOFreeText: 4 patients were tallied with a retinal capillary hemangiomas, 3 with cHemangioblastomas, and 1 with RCC. These phenotypes couldn’t be paired as it was not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78I (c.233A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223169 https://www.ncbi.nlm.nih.gov/clinvar/variation/223169/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: N78I (c.233A>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Ethnicity:Polish Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:78 CivicName:N78I(c.233A>T) cDNAposition:233 AminoAcidChange:ASNtoILE MutationType:missense_variant;transversion ClinVarID:223169 ClinVarID:Yes Familial FamilyCohort ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jmg.bmj.com/content/39/7/e38
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A long-term survivor of metachronous liver metastases of pancreatic serous cystic neoplasm associated with von Hippel-Lindau disease
    1
    1. ClingenBaseline 25 Oct 2026
      Case presentationA 35-year-old woman with VHL underwent total pancreatectomy and right nephrectomy for pancreatic SCN and renal cell carcinoma, respectively. At the 4th year follow-up examination after the resection, contrast-enhanced computed tomography (CT) and gadolinium ethoxybenzyl diethylenetriamine penta-acetic acid (Gd-EOB-DTPA)-enhanced magnetic resonance imaging (MRI) showed arterially hyper-enhanced neoplastic lesions in the segment VI and VIII of the liver. Partial resections of the liver were performed 53 months after the initial surgery. At the 6th month follow-up examination from the second surgery, one and two tumors located in the liver segment III, and VIII, respectively, were detected by contrast-enhanced CT and Gd-EOB-DTPA-enhanced MRI. Anterior segmentectomy and partial resection of the segment III were performed 66 months after the initial surgery and 13 months after the second, respectively. The tumors were pathologically diagnosed as liver metastases of pancreatic SCN synonymous with serous cystadenocarcinoma. She remains disease-free without recurrence 6.5 years after the last operation.

      PatientID: 1

      KindredID: 1

      Case: F, 47Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history.

      CasePresentingHPOs: HP:0006880; HP:0002894; HP:0005584 (Cerebellar Hemangioblastoma; neoplasm of the pancreas; renal cell carcinoma)

      CaseHPOFreeText: At 35-year old, the female patient was diagnosed with VHL due to clinical presentation of pancreatic serous cystic neoplasm and renal cell carcinoma, and cerebellar hemangioblastomas that were surgically removed at age 21. The patient had underwent total pancreatectomy and right nephrectomy for pancreatic serous cystic neoplasm (SCN) and renal cell carcinoma (RCC), respectively. 4 years later, tumors in the liver were detected by CT scan and radiographically diagnosed as metasta-ses of the pancreatic SCN or RCC. Again, morphology and immunohistochemical findings of the resected tumors again were similar to the primary pancreatic SCN, thus diagnosed as multiple metachronous liver metastases of pancreatic SCN. As of 47Y, the patient has remained disease-free without any recurrence after the third operation.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21673464

      SupplementalData: N/A

      Variant: p.N78I (c.233A>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223169 https://www.ncbi.nlm.nih.gov/clinvar/variation/223169/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: N78I (c.233A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:neoplasmofthepancreas AgeOfPresentation:neoplasmofthepancreas:35 AgeOfPresentation:cerebellarhemangioblastoma:21 AgeOfPresentation:renalcellcarcinoma:25 ClinVarID:223169 ClinVarID:Yes CivicName:N78I(c.233A>T) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoILE MutationType:missense_variant;transition NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8245617/
  4. journals.lww.com journals.lww.com
    PARS PLANA VITRECTOMY IN ADVANCED CASES OF VON... : RETINA
    1
    1. ClingenBaseline 22 Oct 2026
      detected point germline vhl mutations in 14 patients

      PatientID: 23

      KindredID: 23

      Case: 23Y0M, sex unknown, ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0030393; HP:0005584; HP:0009711 (hemangioblastoma; endolymphatic sac tumor; renal cell carcinoma; retinal capillary hemangioma)

      CaseHPOFreeText: See Table 1&2 for retinal capillary hemangioma information

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78I (c.233A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223169 https://www.ncbi.nlm.nih.gov/clinvar/variation/223169/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: N78I (c.233A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:hemangioblastoma DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma MutationType:missense_variant;transversion cDNAposition:233 ProteinPosition:78 CivicName:N78I(c.233A>T) AminoAcidChange:ASNtoILE ClinVarID:Yes ClinVarID:223169 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    journals.lww.com/retinajournal/fulltext/2016/02000/pars_plana_vitrectomy_in_advanced_cases_of_von.13.aspx