Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs932485786
rs932485786
ARX
1.000 0.040 X 25015654 stop gained G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312696
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057516032
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs542652468
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs879255368
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1064795760
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1555155556
rs1555155556
BORCS5
0.851 0.120 12 12435627 splice acceptor variant G/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1568070621
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs397507476
rs397507476
BRAF
0.882 0.200 7 140778011 missense variant T/A;G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2006 2009
dbSNP: rs121908216
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1555745467
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1555968941
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1287121256
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2017 2017
dbSNP: rs1554434435
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2017 2017
dbSNP: rs1553196101
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057519438
rs1057519438
CDK20
0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs587783405
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs587783446
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0