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: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1562846694
rs1562846694
TFR2 ; ACTL6B
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2019 2019
dbSNP: rs1553920383
rs1553920383
PPP3CA
0.925 4 101032350 frameshift variant TC/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312873
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs1566823361
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins
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: rs1057518961
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant 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: rs866294686
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs750371878
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- 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: 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: rs1555303073
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312666
rs869312666
MTOR
0.925 0.160 1 11129789 missense variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs398122394
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2013 2013
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1555247672
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0