| VHL Exon 3 Deletion27 |
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| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID530843 Italian patients were molecularly analyzed for Von Hippel-Lindau disease based on clinical suspicion. 1 (patient VHL-26) of the 43 patients was found to have an exon 3 germline deletion (c.464-?_64… (full text at CIViC) PMID 19464396 · Ciotti et al., 2009 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5850A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas and CNS hemangioblastomas were the… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6290A 22-year-old woman diagnosed in childhood with type IIb VHL, with known multiple retinal angiomas, pancreatic cysts, and spinal and cerebellar hemangioblastomas. She was admitted to our hospital comp… (full text at CIViC) PMID 26584481 · Valero et al., 2016 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID636037 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 4 patients (F… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6626Patients with ELSTs were identified and included in the International Endolymphatic Sac Tumor Registry. The registry contained 93 patients as of July 2014, and of those, 25 were sporadic, and 68 assoc… (full text at CIViC) PMID 25867206 · Bausch et al., 2016 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6715A retrospective study reviewed cases of 23 patients with advanced and complicated VHL eye disease who underwent pars plana vitrectomy in the years 1999 to 2012 that were a part of 223 VHL patients con… (full text at CIViC) PMID 26308528 · Krzystolik et al., 2016 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6852A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6854A retrospective study of 41 patients referred to the Department of Endocrinology and Metabolism at Odense University Hospital in the Region of Southern Denmark during January 1, 2006, to December 31,… (full text at CIViC) PMID 28721348 · Hansen et al., 2017 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6857Using polymerase chain reaction (PCR)-direct sequencing and universal primer quantitative fluorescent multiplex–PCR, mutations in VHL gene in 19 VHL disease families recruited from the Department of U… (full text at CIViC) PMID 24581539 · Wang et al., 2014 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6886Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Repub… (full text at CIViC) PMID 25078357 · Hwang et al., 2014 · Open in CIViC | civic |
| (diagnostic) | Von Hippel-Lindau DiseaseUNRESOLVED | Diagnostic | C | Supports Positive | 3 | rejected | EID7132A 33 year old man confirmed with a germline VHL mutation (exon 3 deletion) presented with bilateral multiple renal masses, renal cyst, pancreatic cyst, epididymal cyst, endolymphatic sac tumour, and h… (full text at CIViC) PMID 28256701 · Allasia et al., 2017 · Open in CIViC | civic |
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID812233 patients diagnosed with VHL disease, according to (Maher et al. 1990), were tested for germline VHL mutations. Genetic testing was performed on high-molecular-weight DNA from peripheral blood using… (full text at CIViC) PMID 9106522 · Prowse et al., 1997 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID812333 patients diagnosed with VHL disease, according to (Maher et al. 1990), were tested for germline VHL mutations. Genetic testing was performed on high-molecular-weight DNA from peripheral blood using… (full text at CIViC) PMID 9106522 · Prowse et al., 1997 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID8638Germline VHL mutations were found in all Korean patients who fulfilled clinical criteria for VHL disease. No mutation of VHL was detected in other patients who did not meet clinical criteria. In all c… (full text at CIViC) PMID 19270817 · Cho et al., 2009 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID874218 unrelated probands fulfilling von Hippel-Lindau criteria and carrying germline gross VHL deletions, identified using MLPA gross deletion analyses on blood samples, were studied. 4 probands (ID22, I… (full text at CIViC) PMID 17311301 · Cascón et al., 2007 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID910812 patients with supratentorial hemangioblastoma were studied at Le Kremlin-Bicêtre University. Other phenotypes included: 6 patients with pancreatic cysts, 1 patient with an endocrine pancreatic tumo… (full text at CIViC) PMID 20647972 · Peyre et al., 2010 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID9119In a study from the National Cancer Institute, 6 unrelated VHL patients with known germline VHL mutations underwent surgery for uni- or bilateral renal lesions. The paper used legacy notation for VHL … (full text at CIViC) PMID 11284029 · Phillips et al., 2001 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID9261Thirteen patients from four families (A, B, C and D) with known VHL disease and known mutations in the VHL gene were examined. MLPA using venous blood showed 4 variants. Family A was found with a VHL … (full text at CIViC) PMID 24555745 · Wittström et al., 2014 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID928227 index patients suspected of having VHL disease from unrelated Chinese families and their relatives were studied. The nucleotide were numbered according to the sequence numbering by Latif et al, 199… (full text at CIViC) PMID 18446368 · Zhang et al., 2008 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID10106During the period from 2009 to 2012, 39 families with VHL disease were diagnosed with hereditary VHL disease at Peking University First Hospital Department of Urology were described as part of a broad… (full text at CIViC) PMID 24986515 · Ning et al., 2014 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID10167Eleven patients with sporadic hemangioblastomas were enrolled and diagnosed with a neurological examination. Four of these were found to have a germline mutation of the VHL gene. None of these patient… (full text at CIViC) PMID 19288063 · Huang et al., 2009 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID10174Eleven RCCs and 16 renal cysts from eight patients with VHL were analyzed. All patients had known germline VHL mutations. One female patient had a germline deletion of exon 3 in the VHL gene (c.464−?_… (full text at CIViC) PMID 15709172 · Lee et al., 2005 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10788A retrospective study described polyglobulia in 19 patients precise germline VHL mutations and with hemangioblastomas. 10 other patients followed with VHL mutations without an exact location. Patient … (full text at CIViC) PMID 30214643 · Krüger et al., 2018 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10968216 patients with clinically expected VHL disease due to family history or presence of VHL typical tumours were routinely examined in an eye centre in Germany between January 2019 and January 2020, ma… (full text at CIViC) PMID 33720516 · Reich et al., 2021 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5224In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control in… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5759This study reports 1,548 germline and somatic mutations from 945 VHL families. This mutation was found in a VHL patient (case no. 195). No phenotype described. ACMG evidence codes: 'PP2' because they … (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5767Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This mutation was found in 3 family members and an unrelated patient. All three family member… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |