Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
A 0.700 GeneticVariation CLINVAR A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome is a SWI/SNF complex disorder. 23815551

2014
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 25168959

2014
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
A 0.700 GeneticVariation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012
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: rs1057517858
rs1057517858
TUBA1A
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
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 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. 18669490

2008
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: rs1057517858
rs1057517858
TUBA1A
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
T 0.700 GeneticVariation CLINVAR Mutations in α- and β-tubulin encoding genes: implications in brain malformations. 25008804

2015
dbSNP: rs1057517858
rs1057517858
TUBA1A
T 0.700 GeneticVariation CLINVAR Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. 18728072

2008
dbSNP: rs1057517858
rs1057517858
TUBA1A
T 0.700 GeneticVariation CLINVAR Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 23361065

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

2012
dbSNP: rs1057517858
rs1057517858
TUBA1A
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: rs1057518776
rs1057518776
DYNC1H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease. 29062322

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity. 19627984

2009
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. 29162653

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR Mutations in ARX Result in Several Defects Involving GABAergic Neurons. 20300201

2010
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. 28487885

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017