Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1038322721
rs1038322721
AKT1
0.010 GeneticVariation BEFREE Here, we carried out whole exome sequencing and targeted sequencing in paired brain-blood DNA from patients with FCDII and identified a brain somatic doublet mutation c.(A104T, C105A) in the Ras homolog, mTORC1 binding (RHEB) gene, which led to the RHEB p.Y35L mutation in one patient with FCDII. 31337748

2019
dbSNP: rs1057519779
rs1057519779
MTOR
G 0.800 CausalMutation CLINVAR

dbSNP: rs1057519779
rs1057519779
MTOR
0.800 GeneticVariation UNIPROT

dbSNP: rs1057519914
rs1057519914
MTOR
0.700 GeneticVariation UNIPROT Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 25799227

2015
dbSNP: rs1057519914
rs1057519914
MTOR
0.700 GeneticVariation UNIPROT Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 26018084

2015
dbSNP: rs1057519914
rs1057519914
MTOR
0.700 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187

2016
dbSNP: rs1057519914
rs1057519914
MTOR
0.700 GeneticVariation UNIPROT Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 25878179

2015
dbSNP: rs1057519950
rs1057519950
RHEB
0.010 GeneticVariation BEFREE Here, we carried out whole exome sequencing and targeted sequencing in paired brain-blood DNA from patients with FCDII and identified a brain somatic doublet mutation c.(A104T, C105A) in the Ras homolog, mTORC1 binding (RHEB) gene, which led to the RHEB p.Y35L mutation in one patient with FCDII. 31337748

2019
dbSNP: rs1060505021
rs1060505021
TSC1
0.700 GeneticVariation UNIPROT Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400

2017
dbSNP: rs1085307113
rs1085307113
MTOR
0.810 GeneticVariation UNIPROT

dbSNP: rs1085307113
rs1085307113
MTOR
0.810 GeneticVariation BEFREE Here, we used deep whole-exome sequencing (read depth, 412-668×) validated by site-specific amplicon sequencing (100-347,499×) in paired brain-blood DNA from four subjects with FCDII and uncovered a de novo brain somatic mutation, mechanistic target of rapamycin (MTOR) c.7280T>C (p.Leu2427Pro) in two subjects. 25799227

2015
dbSNP: rs1085307113
rs1085307113
MTOR
T 0.810 CausalMutation CLINVAR

dbSNP: rs1085307113
rs1085307113
MTOR
G 0.810 CausalMutation CLINVAR

dbSNP: rs1085307114
rs1085307114
MTOR
C 0.800 CausalMutation CLINVAR

dbSNP: rs1085307114
rs1085307114
MTOR
0.800 GeneticVariation UNIPROT

dbSNP: rs1131691965
rs1131691965
TSC2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs118203427
rs118203427
TSC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203542
rs118203542
TSC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203631
rs118203631
TSC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1229729609
rs1229729609
PIK3CD
0.010 GeneticVariation BEFREE Here, we carried out whole exome sequencing and targeted sequencing in paired brain-blood DNA from patients with FCDII and identified a brain somatic doublet mutation c.(A104T, C105A) in the Ras homolog, mTORC1 binding (RHEB) gene, which led to the RHEB p.Y35L mutation in one patient with FCDII. 31337748

2019
dbSNP: rs1564488264
rs1564488264
TSC1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1567387207
rs1567387207
TSC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1567437155
rs1567437155
TSC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs28934872
rs28934872
TSC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs45469298
rs45469298
TSC2
T 0.700 CausalMutation CLINVAR