| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex. | 27174333 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. | 22867869 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. | 23955302 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. | 21309039 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | High-resolution melting analysis is a more effective approach for screening TSC genes mutations. | 21510812 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. | 20165957 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | A reliable cell-based assay for testing unclassified TSC2 gene variants. | 18854862 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. | 16981987 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. | 16114042 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. | 12111193 | 2002 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. | 10732801 | 1998 |