6 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 44

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: German

      GroupAgeRange: N/A

      GroupInfo: 2 patients with the given mutation belonging to VHL family 44

      GroupPresentingHPOs: HP:0010797; HP:0005584; HP:0000107; HP:0001737; HP:0009715; HP:0012028 (hemangioblastoma, renal cell carcinoma, renal cyst, pancreatic cysts, Hepatic adenoma)

      GroupHPOFreeText: both patients had hemangioblastomas, renal cell carcinomas, renal cysts, and pancreatic cysts. Hepatic adenoma was also listed as an additional complication

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129fs*30 (c.384delT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L129fs*30 (c.597delT)

      ClinVarID: N/A

      CAID: CA70049452 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: L129fs (c.384delT)

      MultipleGeneVariants: N/A

      Ethnicity:German Mutation:Germline DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:hepaticadenoma RefSeq:AF010238.1 ProteinPosition:129 cDNAposition:384 CivicName:L129fs(c.384delT) AminoAcidChange:LEUtoTRP MutationType:minus_1_frameshift_variant InheritancePattern:AutosomalDominant Familial FamilyCohort CAID:CA70049452 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s004390050206
  3. 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 03 Nov 2026
      nt 597 Del. T 128 FS 597delT Frameshift 1

      PatientID: 21

      GroupID/ KindredID: 21

      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: p.L129W*30 (c.384delT)

      LegacyVariant: (c.597delT)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049452 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: L129fs (c.384delT)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:N/A CAID:CA70049452 NoFamilyInfo ProteinPosition:129 cDNAposition:384 MutationType:minus_1_frameshift_variant AminoAcidChange:LEUtoTRP CivicName:L129fs(c.384delT) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf
  4. www.proquest.com www.proquest.com
    Type 1 Diabetes Mellitus and Von Hipple Lindau Syndrome- Sweet Presentation of a Bitter Disease- A Case Report - Publicly Available Content Database - ProQuest
    1
    1. ClingenBaseline 02 Nov 2026
      CASE REPORT [Image Omitted. Please see PDF] A 19-year-old Saudi male presented to the emergency department with one-week history of polyuria and polydipsia. Physical examination findings were unremarkable. His father had died as a complication of metastatic renal carcinoma. Initial workup demonstrated random blood glucose of 16.3 mmol/L and HbA1C of 9.1%. Urinalysis was positive for ketone bodies, and blood analysis was positive for traces of ketone bodies. Patient was acidotic with pH of 7.3 and bicarbonate levels of 19 mmol/L. A presumptive diagnosis of diabetic ketoacidosis (DKA) was made; immune markers including glutamic acid decarboxylase (GAD) autoantibodies and islet cell autoantibodies were sent to exclude type I diabetes mellitus and maturity onset diabetes of the young. Intravenous insulin infusion and other appropriate management were initiated to control blood sugars and to correct the associated DKA. Later, the diagnosis of type I diabetes mellitus was confirmed with the presence of islet cell autoantibodies and that C-peptide level were within normal range. [Image Omitted. Please see PDF] Ultra-sound abdomen was performed as the patient complained of persistent abdominal pain even after correction of DKA. Ultrasound abdomen demonstrated an incidental finding of a well-defined hypo-echoic soft tissue mass measuring 3.7 x 4.7 cm in the left supra-renal region. Computerized tomography (CT) scan was performed for further evaluation. It demonstrated a 3.7 x 4.0 cm rounded lesion in the left adrenal gland with intense enhancement, suggestive of pheochromocytoma. A small hypo-dense lesion was also noted in the left renal upper pole, measuring 2.3 cm, with heterogeneous enhancement suggestive of a solid mass. The CT scan also demonstrated multiple rounded cystic lesions in the head, body, neck and tail of the pancreas representing pancreatic cysts. The above findings collectively were suggestive of phakomatosis disorders, in particular, vHL disease. Chromosomal studies were sent for detection of genetic mutations and confirmation of the diagnosis. MRI abdomen was highly suggestive of a left sided pheochromocytoma (Figure 1). It also demonstrated multiple cystic lesions in the pancreas (Figure 2) and bilateral cortical lesions in the kidneys, which demonstrated internal septal enhancement in the post gadolinium injection phase, highly indicative of renal cell carcinoma. Nuclear medicine scan demonstrated increased tracer uptake in the left suprarenal gland. Meanwhile, laboratory studies demonstrated increased serum normetanephrine level of 11.80 nmol/l, urine metanephrine level of 400nmol/24hrs, and urine normetanephrine level of 1210 nmol/24hrs. Serum cortisol, aldosterone and renin levels were within normal limits. A diagnosis of pheochromocytoma was confirmed and patient was started on anti-hypertensive medications and scheduled for surgical removal of the pheochromocytoma and the suspicious renal masses. Patient underwent robot assisted laparoscopic left adrenalectomy and left renal mass excision. Two renal nodules were removed. The post-operative course was unremarkable and patient was discharged home in stable condition. Histopathologic evaluation confirmed the diagnosis of pheochromocytoma; the renal masses were determined as renal clear cell carcinoma Furham grade I

      PatientID: 1 (case)

      KindredID: 1

      Case: M,19Y0M, South Asian (Saudi)

      DiseaseAssertion: assumed VHL

      FamilyInfo: History of family showed that his father had died as a complication of metastatic renal carcinoma. Screening was done for the family. 3 of his 8 siblings tested positive for the 384delT mutation, although no phenotypes for them was given.

      CasePresentingHPOs: HP:0100651; HP:0006748; HP:0001737; HP:0005584 (Type I diabetes mellitus; adrenal pheochromocytoma; pancreatic cysts; renal cell carcinoma)

      CaseHPOFreeText: The young man presented with primary symptoms of polyuria and polydipsia, and was later found to be in diabetic ketoacidosis (diagnosed with diabetes mellitus type I). He had persistent abdominal pain (later showing left sided pheochromocytoma (3.7 x 4.0 cm rounded lesion in the left adrenal gland) and right sided renal cell carcinoma (measuring 2.3 cm, with heterogeneous enhancement suggestive of a solid mass)). The CT scan also demonstrated multiple rounded cystic lesions in the head, body, neck and tail of the pancreas representing pancreatic cysts. Bilateral cortical lesions in the kidneys also demonstrated internal septal enhancement in the post gadolinium injection phase, highly indicative of renal cell carcinoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129Trpfs*30 (c.384delT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049452 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:SouthAsian DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:384 ProteinPosition:129 AminoAcidChange:LEUtoTHR MutationType:minus_1_frameshift_variant CAID:CA70049452 ClinVarID:N/A CivicName:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    proquest.com/publiccontent/docview/1845852120
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    1
    1. ClingenBaseline 01 Nov 2026
      1 (100)

      GroupID: 32

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      CohortInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: This individual patient was the only one discussed with this mutation. They had retinal hemangiomas; Other VHL manifestations were discussed but not per- variant.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes - Supplementary Table S1

      Variant: p.L129P (c.386T>C)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: 625242 https://www.ncbi.nlm.nih.gov/clinvar/variation/625242/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L129P (c.386T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:retinalcapillaryhemangioma SupplementalData DiseaseEntity:VHL NoFamilyInfo ProteinPosition:129 cDNAposition:386 MutationType:missense_variant;transition AminoAcidChange:LEUtoPRO CivicName:L129P(c.386T>C) ClinVarID:625242 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1111/aos.14843
  6. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 30 Oct 2026

      PatientID: None

      KindredID: 4410

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Familial VHL stated; although only 1 family member recorded.

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129_V130insGlu (c.386_387insAGA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.200insE (c.599insAGA)

      ClinVarID: N/A

      CAID: CA16602182 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.386_387insAGA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_insertion

      CivicName: L129Q (c.386insAGA)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Mutation:Germline ClinVarID:N/A CAID:CA16602182 InheritancePattern:AutosomalDominant NoFamilyInfo RefSeq:AF010238.1 ProteinPosition:129 cDNAposition:386 MutationType:inframe_insertion AminoAcidChange:LEUtoVAL CivicName:L129Q(c.386insAGA) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  7. Oct 2026
  8. www.proquest.com www.proquest.com
    Type 1 Diabetes Mellitus and Von Hipple Lindau Syndrome- Sweet Presentation of a Bitter Disease- A Case Report - Publicly Available Content Database - ProQuest
    1
    1. ClingenBaseline 23 Oct 2026
      His father had died as a complication of metastatic renal carcinoma.

      PatientID: N/A (father)

      KindredID: 1

      Case: M, Age Unknown (deceased), South Asian (Saudi)

      DiseaseAssertion: assumed VHL

      FamilyInfo: History of family showed that his 4/8 children tested positive for the 384delT mutation. suggesting that he likely passed it onto them. One son (case) presented with adrenal pheochromocytoma, pancreatic cysts, and renal cell carcinoma.

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: He died as a complication of metastatic renal carcinoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129Trpfs*30 (c.384delT) [assumed]

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049452 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:SouthAsian DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:384 ProteinPosition:129 AminoAcidChange:LEUtoTHR CivicName:N/A MutationType:minus_1_frameshift_variant CAID:CA70049452 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    proquest.com/publiccontent/docview/1845852120