Source: CURATED

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: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057518932
rs1057518932
EFTUD2
1.000 17 44855003 missense variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057519560
rs1057519560
MYT1L
1.000 2 1917264 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1060499740
rs1060499740
CINP
14 102348559 stop lost A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
11 64298178 missense variant G/A;C snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1277383877
rs1277383877
PIGT
0.925 20 45421428 missense variant G/T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1372605067
rs1372605067
DEPDC5
22 31821593 frameshift variant CT/- delins 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs137939966
rs137939966
MYOCD
17 12752540 missense variant A/G snv 1.6E-04 8.4E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1444879414
rs1444879414
ALDH7A1
5 126595148 frameshift variant -/T delins 6.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1461148946
rs1461148946
FLNA
X 154354979 missense variant A/C snv 9.3E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553315329
rs1553315329
SPAST
2 32116153 stop gained C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553510492
rs1553510492
TBR1
2 161419040 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553531385
rs1553531385
SCN1A ; SCN1A-AS1 ; LOC102724058
2 166012262 frameshift variant AATA/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553920383
rs1553920383
PPP3CA
0.925 4 101032350 frameshift variant TC/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1554776954
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1557045296
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1559602356
rs1559602356
FOXP1
1.000 3 70972577 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1560747815
rs1560747815
MFSD8
4 127939999 splice acceptor variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1564493599
rs1564493599
TRPM3 ; LOC101927086
1.000 9 70598463 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1565369746
rs1565369746
KCNK4 ; KCNK4-TEX40
11 64297507 missense variant C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1567230528
rs1567230528
AP4E1
1.000 15 50949824 splice acceptor variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1567379470
rs1567379470
STX1B
16 31001195 splice acceptor variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1568925507
rs1568925507
KCNQ2
1.000 20 63438654 inframe insertion -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1568927820
rs1568927820
KCNQ2
20 63439686 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1569097392
rs1569097392
SHANK3
1.000 22 50676625 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0