| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. | 25432535 | 2015 |
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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 | 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 | Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. | 19259131 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. | 17120248 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. | 15798777 | 2005 |
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T | 0.700 | CausalMutation | CLINVAR | Here, we report one novel mutation of TSC1 (Q897X) and five novel mutations of TSC2 (c.336+1 G>A, L345R, E700K, R905G, K914K) identified in Japanese patients with TSC. | 12015165 | 2002 |
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|
T | 0.700 | CausalMutation | CLINVAR | Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. | 9829910 | 1998 |
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T | 0.700 | CausalMutation | CLINVAR | Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. | 9463313 | 1998 |