Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. | 29221145 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Those include hamartin(R692X) and hamartin(R786X), stop mutants frequent in TSC patients and hamartin(H732Y) frequent in FCDIIb. | 27425891 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. | 27494029 | 2016 |
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|
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 | Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. | 20547222 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Missense mutations to the TSC1 gene cause tuberous sclerosis complex. | 18830229 | 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 | Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. | 9242607 | 1997 |