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: rs1553567409
rs1553567409
SCN2A
0.925 0.080 2 165308794 missense variant C/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 1 2017 2017
dbSNP: rs1553567409
rs1553567409
SCN2A
0.925 0.080 2 165308794 missense variant C/T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 1.000 1 2017 2017
dbSNP: rs1553574522
rs1553574522
SCN2A
1.000 0.040 2 165331362 missense variant T/C snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs1553579225
rs1553579225
SCN2A
0.925 0.080 2 165344558 stop gained C/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 1 2016 2016
dbSNP: rs1553579225
rs1553579225
SCN2A
0.925 0.080 2 165344558 stop gained C/T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 1.000 1 2016 2016
dbSNP: rs190111194
rs190111194
SCN2A
0.925 0.080 2 165373330 missense variant C/T snv 4.0E-06
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 1.000 1 2016 2016
dbSNP: rs190111194
rs190111194
SCN2A
0.925 0.080 2 165373330 missense variant C/T snv 4.0E-06
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 1 2016 2016
dbSNP: rs200138205
rs200138205
SCN2A
1.000 0.040 2 165365200 missense variant G/A;C snv 1.7E-04; 3.2E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs387906684
rs387906684
SCN2A
0.851 0.120 2 165367327 stop gained G/A;T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 1.000 1 2009 2009
dbSNP: rs796053124
rs796053124
SCN2A
0.882 0.080 2 165354232 missense variant G/T snv
CUI: C0042571
Disease: Vertigo
Vertigo 		0.700 1.000 1 2010 2010
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: rs796053124
rs796053124
SCN2A
0.882 0.080 2 165354232 missense variant G/T snv
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.700 1.000 1 2010 2010
dbSNP: rs796053156
rs796053156
SCN2A
0.925 0.080 2 165388685 missense variant G/A snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 1 2017 2017
dbSNP: rs796053156
rs796053156
SCN2A
0.925 0.080 2 165388685 missense variant G/A snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 1.000 1 2017 2017
dbSNP: rs796053157
rs796053157
SCN2A
1.000 2 165388692 missense variant G/A snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 1 2013 2013
dbSNP: rs869312663
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 1.000 1 2017 2017
dbSNP: rs869312663
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 1 2017 2017
dbSNP: rs1057518658
rs1057518658
SCN2A
1.000 0.040 2 165331409 frameshift variant AC/- del
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1057519010
rs1057519010
SCN2A
1.000 2 165374775 frameshift variant GGAGTGAATCTCT/- del
CUI: C0683322
Disease: Mental impairment
Mental impairment 		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
dbSNP: rs1057519525
rs1057519525
SCN2A
1.000 0.040 2 165308760 missense variant T/G snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		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: 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: 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: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0