| VHL Deletion35 |
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| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | B | Supports Predisposition | 3 | submitted | EID789636 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6 patients) were studied using comparative genomic hybridization (CGH) to detect genetic imbalances. … (full text at CIViC) PMID 11850829 · Lui et al., 2002 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID542320 individuals in 12 unrelated Brazilian families were referred for clinical suspicion of Von Hippel-Lindau disease. 16 of these individuals from 8 families fulfilled classical VHL diagnostic criteria… (full text at CIViC) PMID 20567917 · Gomy et al., 2010 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID562564 VHL patients with renal involvement were analyzed. 61 of the 64 patients had a known germline mutation. The above mutation was found in 4 patients. Clinical manifestations included renal cell carci… (full text at CIViC) PMID 22156657 · Jilg et al., 2012 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5849A 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 Uncertain Significance | 3 | submitted | EID6471Thirty-eight subjects from three unrelated Taiwanese families (F01, F02 and F03) were enrolled from those attending the Department of Surgery, Cathay General Hospital. All enrolled members were geneti… (full text at CIViC) PMID 17537157 · Huang et al., 2007 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6717A 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 | N/A N/A | 3 | submitted | EID8155A germline deletion in the VHL gene were found in three members of the same kindred and were demonstrated by FISH analysis. No VHL-associated visceral malignancies were found in any of the patients. T… (full text at CIViC) PMID 14755727 · Wait et al., 2004 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8156A germline deletion in the VHL gene were found in three members of the same kindred and were demonstrated by FISH analysis. No VHL-associated visceral malignancies were found in any of the patients. T… (full text at CIViC) PMID 14755727 · Wait et al., 2004 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8157A germline deletion in the VHL gene were found in three members of the same kindred and were demonstrated by FISH analysis. No VHL-associated visceral malignancies were found in any of the patients. T… (full text at CIViC) PMID 14755727 · Wait et al., 2004 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID820741 non-related patients with retinal angiomatosis presenting in the Benjamin Franklin University Eye Clinic between 1988 to 1999 Germany were evaluated for the presence of other VHL lesions. VHL disea… (full text at CIViC) PMID 11148816 · Kreusel et al., 2000 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8354The female patient presented at 17 months old with sever motor and mental retardation, microcephaly, capillary hemangiomas of the forehead and perioral region, synophrys, ptosis, long philtrum, high a… (full text at CIViC) PMID 19650409 · Balci et al., 2009 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8416Two groups were analyzed for germline VHL mutation where Group 1 (84 individuals) presented with only one hemangioblastoma and no other clinical VHL features and those in Group 2 (4 individuals) prese… (full text at CIViC) PMID 11106358 · Hes et al., 2000 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8461Of 16 patients presenting with clinical VHL features that underwent genetic testing, one presented with a deleteion in the VHL gene. Peripheral blood lymphocytes were collected and products of the pol… (full text at CIViC) PMID 9830390 · Martin et al., 1998 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8615Germline sequencing of the VHL gene was performed on patients who presented with VHL syndromic hemangioblastomas, and germline results were compared to sequencing results from matched tumor tissue sam… (full text at CIViC) PMID 29813026 · Vikkath et al., 2018 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8648Germline mutations were found in 20 Brazilian, VHL probands and their families. A complete deletion of VHL was found in a family of 6 affected individuals. Four of the family members had CNS hemangiob… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8688426 unrelated subjects with a clinical diagnosis ranging from VHL syndrome to sporadic potentially VHL-related tumours were analyzed for mutation in the VHL gene. The analysis was carried out by the V… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8939A retrospective analysis of 164 patients waiting for surgery for hemangioblastomas at Freiburg University Medical Center, Freiburg, Germany was conducted. Patient #6 (male, 35Y) was found germline 2kb… (full text at CIViC) PMID 23407287 · Gläsker et al., 2013 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID9002Clear cell RCC tumors from patients with von Hippel-Lindau disease were investigated for HIF expression. Four of the tumours were from 4 patients with confirmed germline complete VHL deletion (ACMG PP… (full text at CIViC) PMID 16600797 · Kim et al., 2006 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID9100Eighteen VHL patients who underwent pancreatectomy for one or several endocrine tumors at Beaujon hospital from 1997 to 2008 were retrieved from the file of VHL patients. All patients had VHL germline… (full text at CIViC) PMID 19238077 · Périgny et al., 2009 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID928027 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 | Supports Predisposition | 3 | submitted | EID9384A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. Patient ID 24 was found with a large germline deletion (>8kb) encompassing the VHL gene and CNS hemangio… (full text at CIViC) PMID 31368132 · Salama et al., 2019 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID10005A study of 34 Polish families revealed germline mutations in 30 families using DNA isolated from peripheral blood luykocytes to sequence through PCR and Quantitative Southern analysis. Mutations were … (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10888VHL germline mutation carriers who had an ophthalmologic examination at the Erasmus Medical Centre or the Rotterdam Eye Hospital between 1984 and 2017, and were diagnosed with retinal hemangioblastoma… (full text at CIViC) PMID 32003155 · Hajjaj et al., 2020 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10974216 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 Uncertain Significance | 2 | submitted | EID6497A VHL disease family has been previously identified (Huang et al., 2007). An updated reported revealed a new affected patient (patient #43) with a ~250.9 kb deletion encompassing the VHL gene as other… (full text at CIViC) PMID 19288063 · Huang et al., 2009 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6544A case report of a woman with de novo 3p deletion syndrome (encompassing the VHL gene; suggesting AMCG PVS1) was associated with cerebellar hemangioblastoma at the age of 16 years old. This is the fir… (full text at CIViC) PMID 26365017 · Suzuki-Muromoto et al., 2016 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID6597A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. A co… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6660The National Cancer Institute has a frozen tumour bank of ccRCC tumours that have been removed from VHL patients. One 28Y female patient with ccRCC was confirmed with a complete VHL germline deletion.… (full text at CIViC) PMID 27174753 · Fei et al., 2016 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID8206Array Comparative Genomic Hybridization (array CGH) identified the cause of a proband's moderate mental retardation by the discovery of a de novo deletion of chromosome 3p25.3 (deletion size between 1… (full text at CIViC) PMID 22895882 · Hogan et al., 2013 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID8252Tumor samples from 3 unrelated patients with germline deletion of VHL gene were analyzed for genetic changes in the second copy of the VHL gene. Case 1 patient has germline deletion of VHL gene demons… (full text at CIViC) PMID 11850836 · Vortmeyer et al., 2002 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID8739202 pheochromocytomas/paragangliomas, including 75 hereditary tumors, were analyzed using expression profiling, BAC array comparative genomic hybridization and somatic mutation screening. The authors … (full text at CIViC) PMID 21784903 · Burnichon et al., 2011 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID8837A study investigated paraganglioma/pheochromocytoma tumors in a retrospective cohort and a prospective cohort. Some of these tumors were found with germline VHL mutations. Tumour ID 74 was PCC and wit… (full text at CIViC) PMID 31383958 · Favier et al., 2020 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID8873Six patients with classic VHL disease (VHL patients) and 6 healthy control participants took part in the study. The patients were free from any associated neoplasia at the time of the study and had no… (full text at CIViC) PMID 21389259 · Formenti et al., 2011 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID9197‘Patient 3' was a 28-year-old woman and had a familial history of VHL caused by a total deletion of the VHLgene. Presymptomatic genetic testing by FISH using a cosmid of the VHL gene showed that she w… (full text at CIViC) PMID 19278970 · Vanneste et al., 2009 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID1065293 families examined at the Clinical Center of the National Institutes of Health (Bethesda, MD) underwent genetic testing for germline mutations of the VHL gene. Whole blood was extracted and genomic… (full text at CIViC) PMID 9829911 · Stolle et al., 1998 · Open in CIViC | civic |