Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs778148267
rs778148267
NFKB2
0.010 GeneticVariation BEFREE Cells expressing the S114A/S446A mutant have cellular proliferation and migration defects. 28689659

2017
dbSNP: rs104894780
rs104894780
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894784
rs104894784
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894785
rs104894785
DCX
A 0.700 CausalMutation CLINVAR

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

2018
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: rs201870761
rs201870761
DCX
A 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: rs587783519
rs587783519
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783522
rs587783522
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783523
rs587783523
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783529
rs587783529
DCX
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587783533
rs587783533
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783534
rs587783534
DCX
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587783535
rs587783535
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783538
rs587783538
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783541
rs587783541
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783542
rs587783542
DCX
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587783548
rs587783548
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783549
rs587783549
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783550
rs587783550
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783553
rs587783553
DCX
A 0.700 CausalMutation CLINVAR