TSC2, TSC complex subunit 2, 7249
N. diseases: 72; N. variants: 287
Source: CURATED ×
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Genotype and brain pathology phenotype in children with tuberous sclerosis complex. | 27406250 | 2016 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. | 22867869 | 2013 | ||||||
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A | 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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A | 0.700 | CausalMutation | CLINVAR | Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. | 20165957 | 2010 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A reliable cell-based assay for testing unclassified TSC2 gene variants. | 18854862 | 2009 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. | 16981987 | 2006 | ||||||
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A | 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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A | 0.700 | CausalMutation | CLINVAR | A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. | 16237225 | 2005 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. | 10732801 | 1998 |