Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053228
rs796053228
SCN8A
0.720 GeneticVariation BEFREE De novo mutations of the sodium channel gene <i>SCN8A</i> result in an epileptic encephalopathy with refractory seizures, developmental delay, and elevated risk of sudden death. p.Arg1872Trp is a recurrent de novo SCN8A mutation reported in 14 unrelated individuals with epileptic encephalopathy that included seizure onset in the prenatal or infantile period and severe verbal and ambulatory comorbidities. 31288536

2020
dbSNP: rs796053228
rs796053228
SCN8A
0.720 GeneticVariation BEFREE De novo mutations of the sodium channel gene SCN8A result in an epileptic encephalopathy with refractory seizures, developmental delay, and elevated risk of sudden death. p.Arg1872Trp is a recurrent de novo SCN8A mutation reported in 14 unrelated individuals with epileptic encephalopathy that included seizure onset in the prenatal or infantile period and severe verbal and ambulatory comorbidities. 30601941

2019
dbSNP: rs796053228
rs796053228
SCN8A
T 0.720 CausalMutation CLINVAR

dbSNP: rs775162839
rs775162839
UGDH
T 0.700 GeneticVariation CLINVAR Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. 32001716

2020
dbSNP: rs1555703272
rs1555703272
SLC25A10
T 0.700 GeneticVariation CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846

2018
dbSNP: rs1135401732
rs1135401732
HNRNPU
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs1135401733
rs1135401733
HNRNPU
A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs1135401734
rs1135401734
HNRNPU ; SNORA100
C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs779453109
rs779453109
HNRNPU
C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs121909323
rs121909323
CACNA1A
A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs786200962
rs786200962
CACNA1A
G 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs1057516094
rs1057516094
KCNQ2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516099
rs1057516099
KCNQ2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518759
rs1057518759
CDKL5
GGC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518795
rs1057518795
WWOX
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518816
rs1057518816
FOLR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518928
rs1057518928
SOX5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518985
rs1057518985
STXBP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519000
rs1057519000
SLC35A2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519269
rs1057519269
AP3B2 ; CPEB1-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519270
rs1057519270
AP3B2 ; CPEB1-AS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519452
rs1057519452
USP19
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519524
rs1057519524
SCN2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519526
rs1057519526
SCN2A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519527
rs1057519527
SCN2A
A 0.700 GeneticVariation CLINVAR