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: rs746163041
rs746163041
SCN2A
0.925 0.080 2 165344869 stop gained C/A;T snv 4.0E-06
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 0
dbSNP: rs796053178
rs796053178
SCN2A
0.925 0.080 2 165313732 stop gained C/G;T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 0
dbSNP: rs796053178
rs796053178
SCN2A
0.925 0.080 2 165313732 stop gained C/G;T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs869312664
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312664
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs869312664
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs869312664
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs796053162
rs796053162
SCN2A
0.882 0.080 2 165389123 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1991 2017
dbSNP: rs794727152
rs794727152
SCN2A
0.925 0.080 2 165342465 missense variant G/A snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 1.000 4 2013 2017
dbSNP: rs794727152
rs794727152
SCN2A
0.925 0.080 2 165342465 missense variant G/A snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 1.000 4 2013 2017
dbSNP: rs121917752
rs121917752
SCN2A
0.925 0.080 2 165309414 missense variant G/A snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.800 1.000 3 2001 2018
dbSNP: rs121917752
rs121917752
SCN2A
0.925 0.080 2 165309414 missense variant G/A snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 3 2004 2018
dbSNP: rs121917751
rs121917751
SCN2A
0.925 0.080 2 165344666 missense variant G/A snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.800 1.000 2 2001 2018
dbSNP: rs121917751
rs121917751
SCN2A
0.925 0.080 2 165344666 missense variant G/A snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 2 2004 2018
dbSNP: rs121917753
rs121917753
SCN2A
1.000 0.080 2 165373331 missense variant G/A;T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 1.000 2 2001 2018
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: 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: 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