| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. | 26231267 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. | 24633152 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events. | 22707517 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. | 20547222 | 2010 |
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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 | Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. | 10227394 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. | 10533067 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. | 10363127 | 1998 |
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|
A | 0.700 | CausalMutation | CLINVAR | Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. | 9242607 | 1997 |