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: rs1057516064
rs1057516064
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 9237 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 1.000 1 2017 2017
dbSNP: rs1558005340
rs1558005340
ATP1A2
0.851 0.280 1 160127638 frameshift variant C/- del
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
0.851 0.280 1 160135284 frameshift variant GT/- delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 1.000 1 2020 2020
dbSNP: rs796051881
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 1.000 1 2015 2015
dbSNP: rs796053124
rs796053124
SCN2A
0.882 0.080 2 165354232 missense variant G/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 1.000 1 2010 2010
dbSNP: rs1057518988
rs1057518988
GRIN2B
0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
0.827 0.120 8 91071136 splice acceptor variant A/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs1064797103
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs1553456695
rs1553456695
NR4A2
1.000 0.040 2 156329859 frameshift variant -/C delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs1554823375
rs1554823375
WDR37
0.851 0.160 10 1080454 missense variant C/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs1562927768
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs1565532385
rs1565532385
UBE4A
0.925 0.080 11 118374964 frameshift variant CA/- del
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs192669225
rs192669225
AMPD2
0.925 0.040 1 109628692 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs372292910
rs372292910
PCDHB4
1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs398122887
rs398122887
ATP1A3
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs730882200
rs730882200
ARFGEF2
0.882 0.040 20 48953604 frameshift variant -/C delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs730882203
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs730882210
rs730882210
MATN4
0.827 0.280 20 45304356 missense variant C/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs730882211
rs730882211
SEC24D
1.000 0.040 4 118815132 missense variant C/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs730882222
rs730882222
SLC13A5
0.925 0.040 17 6707026 splice donor variant A/C snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs730882223
rs730882223
TSEN15
0.851 0.120 1 184054736 missense variant T/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs730882242
rs730882242
DIAPH1
0.807 0.280 5 141573518 stop gained G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs759317757
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs886039798
rs886039798
BBS1 ; ZDHHC24
0.925 0.120 11 66529902 frameshift variant -/T delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0