| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. | 26795593 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations in α- and β-tubulin encoding genes: implications in brain malformations. | 25008804 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. | 23528852 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | The wide spectrum of tubulinopathies: what are the key features for the diagnosis? | 24860126 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. | 23361065 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | TUBA1A mutation-associated lissencephaly: case report and review of the literature. | 22264709 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. | 20466733 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. | 18669490 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. | 18954413 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. | 18728072 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). | 17584854 | 2007 |