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: rs1553583712
rs1553583712
SCN2A
1.000 2 165354339 frameshift variant GA/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 34 1991 2017
dbSNP: rs1553583712
rs1553583712
SCN2A
1.000 2 165354339 frameshift variant GA/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1991 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: rs1057519010
rs1057519010
SCN2A
1.000 2 165374775 frameshift variant GGAGTGAATCTCT/- del
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1553462134
rs1553462134
SCN2A
1.000 2 165380718 stop gained C/A;G;T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553564139
rs1553564139
SCN2A
1.000 2 165295824 start lost A/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553564144
rs1553564144
SCN2A
1.000 2 165295834 stop gained C/G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553568045
rs1553568045
SCN2A
1.000 2 165310506 frameshift variant C/- delins
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553569739
rs1553569739
SCN2A
1.000 2 165315649 frameshift variant CA/- delins
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs755003900
rs755003900
SCN2A
1.000 2 165323304 missense variant G/A snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs776206684
rs776206684
SCN2A
1.000 2 165313924 missense variant C/G;T snv 4.0E-06
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs796053115
rs796053115
SCN2A
1.000 2 165344627 missense variant G/A snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs796053171
rs796053171
SCN2A
1.000 2 165308795 splice donor variant G/A;T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs797045942
rs797045942
SCN2A
2 165344559 missense variant G/A;C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs797045943
rs797045943
SCN2A
1.000 2 165388647 missense variant T/C snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
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: 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: rs1057518658
rs1057518658
SCN2A
1.000 0.040 2 165331409 frameshift variant AC/- del
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		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: rs1057519526
rs1057519526
SCN2A
0.925 0.040 2 165344679 missense variant C/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 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