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: 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: 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
dbSNP: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1060503101
rs1060503101
SCN2A
0.925 0.080 2 165388782 missense variant C/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1060503101
rs1060503101
SCN2A
0.925 0.080 2 165388782 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1060503101
rs1060503101
SCN2A
0.925 0.080 2 165388782 missense variant C/T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 0
dbSNP: rs1060503102
rs1060503102
SCN2A
0.925 0.080 2 165388682 stop gained C/T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 0
dbSNP: rs1060503102
rs1060503102
SCN2A
0.925 0.080 2 165388682 stop gained C/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs121917748
rs121917748
SCN2A
0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.800 1.000 0 2001 2018
dbSNP: rs121917749
rs121917749
SCN2A
1.000 0.080 2 165374700 missense variant C/T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.800 1.000 0 2001 2018
dbSNP: rs121917750
rs121917750
SCN2A
0.925 0.080 2 165386881 missense variant C/G snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.800 1.000 0 2001 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: 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