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: rs1555889130
rs1555889130
KCNB1 ; LOC105372649
0.882 0.040 20 49374644 missense variant G/A snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.800 1.000 3 2014 2017
dbSNP: rs587777848
rs587777848
KCNB1 ; LOC105372649
0.882 0.040 20 49374519 missense variant G/C;T snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.800 1.000 1 2014 2015
dbSNP: rs587777849
rs587777849
KCNB1 ; LOC105372649
1.000 20 49374439 missense variant G/A snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.800 1.000 0 2014 2015
dbSNP: rs587777850
rs587777850
KCNB1 ; LOC105372649
1.000 20 49374425 missense variant C/T snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.800 1.000 0 2014 2015
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
20 49374572 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1995 2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 1.000 3 2017 2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2017 2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 1.000 2 2017 2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C4022901
Disease: Low CSF 5-methyltetrahydrofolate
Low CSF 5-methyltetrahydrofolate 		0.700 1.000 2 2017 2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2017 2017
dbSNP: rs1555889103
rs1555889103
KCNB1 ; LOC105372649
1.000 20 49374472 frameshift variant C/- del
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 1.000 1 2014 2014
dbSNP: rs1569017114
rs1569017114
KCNB1 ; LOC105372649
1.000 20 49374418 missense variant C/T snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 1.000 1 2016 2016
dbSNP: rs1060499592
rs1060499592
KCNB1 ; LOC105372649
1.000 20 49374407 missense variant G/T snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 0
dbSNP: rs1064794764
rs1064794764
KCNB1 ; LOC105372649
1.000 20 49374263 stop gained G/A snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 0
dbSNP: rs1179351306
rs1179351306
KCNB1 ; LOC105372649
1.000 0.040 20 49374576 stop gained G/A;C snv 8.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555889090
rs1555889090
KCNB1 ; LOC105372649
1.000 0.040 20 49374416 missense variant C/G;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555889108
rs1555889108
KCNB1 ; LOC105372649
0.925 0.040 20 49374559 missense variant A/G snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 0
dbSNP: rs1555889108
rs1555889108
KCNB1 ; LOC105372649
0.925 0.040 20 49374559 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555889130
rs1555889130
KCNB1 ; LOC105372649
0.882 0.040 20 49374644 missense variant G/A snv
CUI: C4023512
Disease: Myoclonic absences
Myoclonic absences 		0.700 0