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: rs1555228771
rs1555228771
1.000 0.160 12 51789408 missense variant A/C snv
SCN8A-related epilepsy with encephalopathy
0.700 0
dbSNP: rs878854973
rs878854973
1.000 0.040 12 51705532 missense variant A/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
0.700 0
dbSNP: rs587777723
rs587777723
1.000 0.160 12 51789396 missense variant A/C;G snv
SCN8A-related epilepsy with encephalopathy
0.800 1.000 1 2012 2017
dbSNP: rs879255695
rs879255695
1.000 0.160 12 51688786 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
0.700 1.000 2 2015 2015
dbSNP: rs879255704
rs879255704
0.925 0.160 12 51786578 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
0.800 1.000 2 2012 2017
dbSNP: rs202151337
rs202151337
0.925 0.160 12 51806788 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
0.700 1.000 1 2012 2012
dbSNP: rs672601319
rs672601319
0.925 0.160 12 51688810 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
0.800 1.000 1 2012 2017
dbSNP: rs796053217
rs796053217
1.000 0.160 12 51790413 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
0.700 1.000 1 2015 2015
dbSNP: rs879255706
rs879255706
1.000 0.160 12 51806299 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
0.700 1.000 1 2015 2015
dbSNP: rs1057518667
rs1057518667
1.000 0.160 12 51789402 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
0.700 0
dbSNP: rs1057519540
rs1057519540
0.925 0.160 12 51768895 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 0
dbSNP: rs1555230909
rs1555230909
1.000 0.040 12 51806326 missense variant A/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
0.700 0
dbSNP: rs587780455
rs587780455
0.827 0.160 12 51807116 missense variant A/G snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
0.700 0
dbSNP: rs587780455
rs587780455
0.827 0.160 12 51807116 missense variant A/G snv
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
0.800 1.000 0 2016 2016
dbSNP: rs587780455
rs587780455
0.827 0.160 12 51807116 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
0.800 1.000 0 2012 2017
dbSNP: rs869312690
rs869312690
0.925 0.240 12 51806762 missense variant A/G snv
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
0.700 0
dbSNP: rs869312690
rs869312690
0.925 0.240 12 51806762 missense variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
0.700 0
dbSNP: rs869312690
rs869312690
0.925 0.240 12 51806762 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
0.700 0
dbSNP: rs879255711
rs879255711
1.000 0.160 12 51807096 missense variant A/T snv
SCN8A-related epilepsy with encephalopathy
0.700 1.000 1 2016 2016
dbSNP: rs1135401806
rs1135401806
1.000 0.160 12 51789393 missense variant A/T snv
SCN8A-related epilepsy with encephalopathy
0.700 0
dbSNP: rs1555230924
rs1555230924
12 51806351 missense variant C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 26 1995 2017
dbSNP: rs1555230924
rs1555230924
12 51806351 missense variant C/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 26 1995 2017
dbSNP: rs587777722
rs587777722
1.000 0.160 12 51789397 missense variant C/A snv
SCN8A-related epilepsy with encephalopathy
0.800 1.000 1 2012 2017
dbSNP: rs761386688
rs761386688
1.000 0.160 12 51769230 missense variant C/A snv 1.6E-05
SCN8A-related epilepsy with encephalopathy
0.700 0
dbSNP: rs879255705
rs879255705
1.000 0.160 12 51794633 missense variant C/G snv
SCN8A-related epilepsy with encephalopathy
0.800 1.000 2 2012 2017