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: rs368435864
rs368435864
POLG
1.000 0.080 15 89318736 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 9 2006 2013
dbSNP: rs750428882
rs750428882
TPP1
1.000 0.120 11 6616375 missense variant G/A;C snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 4 2009 2013
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: rs267607235
rs267607235
MFSD8
1.000 0.120 4 127921639 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2009 2012
dbSNP: rs864309661
rs864309661
WDR45
1.000 0.080 X 49077715 inframe deletion CCA/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2012 2013
dbSNP: rs778573169
rs778573169
POLG
1.000 0.080 15 89319225 splice region variant T/A;C snv 4.0E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2011 2013
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: 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: rs587780315
rs587780315
CLN5 ; FBXL3
1.000 0.120 13 76996086 frameshift variant G/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2010 2010
dbSNP: rs756522171
rs756522171
CLN6
1.000 0.120 15 68211674 splice donor variant C/T snv 1.2E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2003 2003
dbSNP: rs869312667
rs869312667
NBEA
1.000 0.160 13 35157262 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2018 2018
dbSNP: rs876661308
rs876661308
MEF2C
1.000 5 88823780 missense variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs878853169
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2018 2018
dbSNP: rs878853280
rs878853280
FRRS1L
1.000 9 109137529 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs878853281
rs878853281
FRRS1L
1.000 9 109141360 stop gained C/T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs878853282
rs878853282
FRRS1L
1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
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: rs104893851
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
1.000 15 25354536 missense variant C/T snv
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: 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: rs1057519439
rs1057519439
DNAH7
1.000 0.120 2 195787135 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057519440
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/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