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: rs1060499626
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T 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: rs1060503101
rs1060503101
SCN2A
0.925 0.080 2 165388782 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins
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: rs1064796460
rs1064796460
TUBA1A
0.790 0.400 12 49185197 missense variant C/G;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
0.827 0.120 8 91071136 splice acceptor variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1064797103
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1085307051
rs1085307051
MEF2C ; MEF2C-AS1
0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1085308040
rs1085308040
PTEN
0.851 0.200 10 87961096 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1114167290
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1114167297
rs1114167297
KIF5B
0.851 0.160 10 32019912 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1114167298
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1114167300
rs1114167300
GRM7
0.925 0.040 3 7578878 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1114167301
rs1114167301
GRM7
0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1131692230
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1131692231
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1135401733
rs1135401733
HNRNPU
1.000 0.040 1 244856757 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs113871094
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs113993970
rs113993970
HTRA1
0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1172486173
rs1172486173
QARS1 ; MIR6890
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs118192212
rs118192212
KCNQ2
0.925 0.040 20 63439610 inframe deletion AAG/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0