Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Mutations in α- and β-tubulin encoding genes: implications in brain malformations. 25008804

2015
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 23528852

2014
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 24860126

2014
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 23361065

2013
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR TUBA1A mutation-associated lissencephaly: case report and review of the literature. 22264709

2012
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. 20466733

2010
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. 18669490

2008
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. 18728072

2008
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. 18954413

2008
dbSNP: rs1057517858
rs1057517858
TUBA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). 17584854

2007