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: rs797044523
rs797044523
DYRK1A ; LOC105372797
0.882 21 37480756 frameshift variant -/A delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2015 2015
dbSNP: rs724159954
rs724159954
DYRK1A ; LOC105372797
21 37490353 frameshift variant -/A delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs759190203
rs759190203
GCM2
1.000 0.040 6 10876442 splice donor variant -/A delins 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057518821
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs78300695
rs78300695
TREX1 ; ATRIP ; ATRIP-TREX1
0.882 0.200 3 48466711 frameshift variant -/G delins 2.1E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs1555565492
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1566823361
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs724159952
rs724159952
DYRK1A ; LOC105372797
21 37490451 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs724159956
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs778003597
rs778003597
ALDH7A1
5 126559300 frameshift variant -/G delins 8.0E-06 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs387906309
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2012 2014
dbSNP: rs1555850151
rs1555850151
KCNQ2
1.000 20 63406659 frameshift variant -/GCCCA delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2003 2014
dbSNP: rs878853283
rs878853283
FRRS1L
1.000 9 109149675 frameshift variant -/T delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs1444879414
rs1444879414
ALDH7A1
5 126595148 frameshift variant -/T delins 6.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs775835429
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs1568925507
rs1568925507
KCNQ2
1.000 20 63438654 inframe insertion -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs797044521
rs797044521
DYRK1A ; LOC105372797
0.925 21 37480768 frameshift variant A/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2015 2015
dbSNP: rs1554776954
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1554901898
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1555640521
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312670
rs869312670
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.160 2 166013745 frameshift variant A/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs113994198
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 1999 2003