Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043622
rs1557043622
SLC35A2
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
dbSNP: rs1564351388
rs1564351388
STXBP1
CT 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513

2016
dbSNP: rs387906799
rs387906799
KIF1A
A 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474

2016
dbSNP: rs864309676
rs864309676
STX7
G 0.700 GeneticVariation CLINVAR Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. 26395554

2016
dbSNP: rs1060505041
rs1060505041
NACC1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064796765
rs1064796765
DYNC1H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555955296
rs1555955296
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555968941
rs1555968941
CACNA1C
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1569508922
rs1569508922
ALG13
A 0.700 GeneticVariation CLINVAR

dbSNP: rs201278558
rs201278558
SLC1A4 ; LINC02245 ; LOC107984063
A 0.700 CausalMutation CLINVAR

dbSNP: rs35135520
rs35135520
TIMM50
A 0.700 CausalMutation CLINVAR

dbSNP: rs45514095
rs45514095
TSC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR

dbSNP: rs749203329
rs749203329
MLLT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs758022116
rs758022116
RALGAPB
T 0.700 GeneticVariation CLINVAR

dbSNP: rs776019250
rs776019250
TIMM50
C 0.700 CausalMutation CLINVAR

dbSNP: rs782304760
rs782304760
KDM2B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794727792
rs794727792
STXBP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869312661
rs869312661
WDR45 ; PRAF2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs387906684
rs387906684
SCN2A
0.020 GeneticVariation BEFREE Similarity of our case and one Japanese case of infantile spasm indicated that this E1211K mutation is important as possible etiology of IS. 25459969

2015
dbSNP: rs387906684
rs387906684
SCN2A
0.020 GeneticVariation BEFREE One mutation, SCN2A-E1211K, was identified in a patient with sporadic infantile spasms. 19786696

2009
dbSNP: rs796052621
rs796052621
KCNQ2
0.010 GeneticVariation BEFREE We conclude that KCNQ2 R198Q is a model for a new subclass of KCNQ2 variants causing infantile spasms and encephalopathy, without preceding neonatal seizures. 27861786

2017