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: rs1553920379
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1562159088
rs1562159088
WASF1
1.000 0.040 6 110100644 stop gained G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs886041874
rs886041874
PHGDH
1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs764618040
rs764618040
PHGDH ; LOC105378936
1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519538
rs1057519538
STXBP1
1.000 0.040 9 127651622 inframe deletion AAA/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057518985
rs1057518985
STXBP1
1.000 0.040 9 127673233 missense variant C/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs796053366
rs796053366
STXBP1
0.925 0.040 9 127673250 stop gained C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs796053367
rs796053367
STXBP1
0.925 0.040 9 127675909 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519539
rs1057519539
STXBP1
1.000 0.040 9 127678479 stop gained G/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519537
rs1057519537
STXBP1
1.000 0.040 9 127682423 stop gained G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
0.827 0.160 9 128203609 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs796053335
rs796053335
SPTAN1
1.000 0.040 9 128632280 protein altering variant -/GCATGC delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962
CACNA1A
0.827 0.120 19 13298768 frameshift variant A/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 1.000 1 2015 2015
dbSNP: rs1064794262
rs1064794262
CACNA1A
0.925 0.040 19 13303831 frameshift variant CT/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs879253748
rs879253748
GABRA1
0.882 0.040 5 161897251 frameshift variant C/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1553567473
rs1553567473
SCN2A
0.925 0.040 2 165309193 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519528
rs1057519528
SCN2A
0.925 0.040 2 165310376 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519526
rs1057519526
SCN2A
0.925 0.040 2 165344679 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs796053130
rs796053130
SCN2A
0.925 0.040 2 165373322 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519527
rs1057519527
SCN2A
0.925 0.040 2 165374743 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519524
rs1057519524
SCN2A
0.925 0.040 2 165386837 missense variant T/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0