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

2016
dbSNP: rs137853043
rs137853043
TUBA1A
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs137853049
rs137853049
TUBA1A
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1555162303
rs1555162303
TUBA1A
A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1555162486
rs1555162486
TUBA1A
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

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

2015
dbSNP: rs137853043
rs137853043
TUBA1A
A 0.700 CausalMutation CLINVAR Mutations in α- and β-tubulin encoding genes: implications in brain malformations. 25008804

2015
dbSNP: rs137853049
rs137853049
TUBA1A
A 0.700 CausalMutation CLINVAR Mutations in α- and β-tubulin encoding genes: implications in brain malformations. 25008804

2015
dbSNP: rs1555162303
rs1555162303
TUBA1A
A 0.700 GeneticVariation CLINVAR Mutations in α- and β-tubulin encoding genes: implications in brain malformations. 25008804

2015
dbSNP: rs1555162486
rs1555162486
TUBA1A
A 0.700 CausalMutation CLINVAR Mutations in α- and β-tubulin encoding genes: implications in brain malformations. 25008804

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

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

2014
dbSNP: rs137853043
rs137853043
TUBA1A
A 0.700 CausalMutation CLINVAR The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 24860126

2014
dbSNP: rs137853043
rs137853043
TUBA1A
A 0.700 CausalMutation CLINVAR A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 23528852

2014
dbSNP: rs137853049
rs137853049
TUBA1A
A 0.700 CausalMutation CLINVAR The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 24860126

2014
dbSNP: rs137853049
rs137853049
TUBA1A
A 0.700 CausalMutation CLINVAR A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 23528852

2014
dbSNP: rs1555162303
rs1555162303
TUBA1A
A 0.700 GeneticVariation CLINVAR The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 24860126

2014
dbSNP: rs1555162303
rs1555162303
TUBA1A
A 0.700 GeneticVariation CLINVAR A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 23528852

2014
dbSNP: rs1555162486
rs1555162486
TUBA1A
A 0.700 CausalMutation CLINVAR A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 23528852

2014
dbSNP: rs1555162486
rs1555162486
TUBA1A
A 0.700 CausalMutation CLINVAR The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 24860126

2014
dbSNP: rs1057517858
rs1057517858
TUBA1A
T 0.700 GeneticVariation CLINVAR Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 23361065

2013
dbSNP: rs137853043
rs137853043
TUBA1A
A 0.700 CausalMutation CLINVAR Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 23361065

2013
dbSNP: rs137853049
rs137853049
TUBA1A
A 0.700 CausalMutation CLINVAR Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 23361065

2013
dbSNP: rs1555162303
rs1555162303
TUBA1A
A 0.700 GeneticVariation CLINVAR Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 23361065

2013
dbSNP: rs1555162486
rs1555162486
TUBA1A
A 0.700 CausalMutation CLINVAR Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 23361065

2013