Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606828
rs267606828
FOXG1
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs786205009
rs786205009
FOXG1
T 0.800 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346

2014
dbSNP: rs786205009
rs786205009
FOXG1
T 0.800 CausalMutation CLINVAR Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. 22091895

2012
dbSNP: rs267606828
rs267606828
FOXG1
0.800 GeneticVariation UNIPROT A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. 21280142

2011
dbSNP: rs786205009
rs786205009
FOXG1
T 0.800 CausalMutation CLINVAR A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. 21280142

2011
dbSNP: rs267606828
rs267606828
FOXG1
0.800 GeneticVariation UNIPROT Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 19578037

2010
dbSNP: rs267606828
rs267606828
FOXG1
C 0.800 CausalMutation CLINVAR

dbSNP: rs786205009
rs786205009
FOXG1
0.800 GeneticVariation UNIPROT

dbSNP: rs398124204
rs398124204
FOXG1
CG 0.700 CausalMutation CLINVAR Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. 28851325

2017
dbSNP: rs1555321380
rs1555321380
FOXG1
T 0.700 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630

2016
dbSNP: rs398124204
rs398124204
FOXG1
CG 0.700 CausalMutation CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814

2016
dbSNP: rs767961672
rs767961672
FOXG1
T 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs786205001
rs786205001
FOXG1
G 0.700 CausalMutation CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814

2016
dbSNP: rs1555321206
rs1555321206
FOXG1
ACCCGCCGCCG 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014
dbSNP: rs398124204
rs398124204
FOXG1
C 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014
dbSNP: rs398124204
rs398124204
FOXG1
CG 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014
dbSNP: rs398124204
rs398124204
FOXG1
C 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs786205001
rs786205001
FOXG1
G 0.700 CausalMutation CLINVAR 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. 22739344

2012
dbSNP: rs398124204
rs398124204
FOXG1
CG 0.700 CausalMutation CLINVAR The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. 21441262

2011
dbSNP: rs398124204
rs398124204
FOXG1
CG 0.700 CausalMutation CLINVAR Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. 19806373

2010
dbSNP: rs764343290
rs764343290
FOXG1
G 0.700 CausalMutation CLINVAR Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. 19564653

2010
dbSNP: rs764343290
rs764343290
FOXG1
G 0.700 CausalMutation CLINVAR Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. 19806373

2010
dbSNP: rs1555321380
rs1555321380
FOXG1
T 0.700 CausalMutation CLINVAR FOXG1 is responsible for the congenital variant of Rett syndrome. 18571142

2008
dbSNP: rs1057516138
rs1057516138
FOXG1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064797186
rs1064797186
FOXG1
C 0.700 GeneticVariation CLINVAR