Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894780
rs104894780
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894782
rs104894782
DCX
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894784
rs104894784
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894785
rs104894785
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs1210404526
rs1210404526
EP300 ; EP300-AS1
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018
dbSNP: rs122457137
rs122457137
DCX
T 0.700 CausalMutation CLINVAR

dbSNP: rs143873938
rs143873938
FLNA
0.010 GeneticVariation BEFREE FLNA p.V528M was initially detected in a female autopsy case of X-linked bilateral periventricular nodular heterotopia (BPNH), a neuronal migration disorder characterized by subependymal nodules of gray matter. 20844545

2010
dbSNP: rs1555162325
rs1555162325
TUBA1A
A 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018
dbSNP: rs1555411378
rs1555411378
DYNC1H1
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018
dbSNP: rs1555625363
rs1555625363
TUBB3
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018
dbSNP: rs1556405129
rs1556405129
DCX
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018
dbSNP: rs1557175424
rs1557175424
FLNA
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018
dbSNP: rs1558005340
rs1558005340
ATP1A2
G 0.700 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
A 0.700 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
TG 0.700 CausalMutation CLINVAR

dbSNP: rs201870761
rs201870761
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606317
rs267606317
DCX
T 0.700 CausalMutation CLINVAR

dbSNP: rs387906739
rs387906739
DYNC1H1 ; LOC107984661
0.010 GeneticVariation BEFREE In this report the identification of two de novo missense mutations in DYNC1H1 (p.Glu1518Lys and p.His3822Pro) in two patients with severe intellectual disability and variable neuronal migration defects is described. 22368300

2012
dbSNP: rs387906740
rs387906740
DYNC1H1
0.010 GeneticVariation BEFREE In this report the identification of two de novo missense mutations in DYNC1H1 (p.Glu1518Lys and p.His3822Pro) in two patients with severe intellectual disability and variable neuronal migration defects is described. 22368300

2012
dbSNP: rs56030372
rs56030372
DCX
T 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
dbSNP: rs587783518
rs587783518
DCX
C 0.700 CausalMutation CLINVAR

dbSNP: rs587783519
rs587783519
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783520
rs587783520
DCX
G 0.700 CausalMutation CLINVAR

dbSNP: rs587783521
rs587783521
DCX
G 0.700 CausalMutation CLINVAR