Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606828
rs267606828
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		C 0.800 CausalMutation CLINVAR

dbSNP: rs786205009
rs786205009
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.800 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346

2014
dbSNP: rs786205009
rs786205009
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.800 CausalMutation CLINVAR Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. 22091895

2012
dbSNP: rs786205009
rs786205009
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		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: rs1057516138
rs1057516138
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064797186
rs1064797186
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs121913678
rs121913678
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913678
rs121913678
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs138747073
rs138747073
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1452295073
rs1452295073
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555321206
rs1555321206
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		ACCCGCCGCCG 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014
dbSNP: rs1555321237
rs1555321237
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555321294
rs1555321294
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555321337
rs1555321337
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139

2017
dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630

2016
dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814

2016
dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Visual impairment in FOXG1-mutated individuals and mice. 27001178

2016
dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 27640358

2016
dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy. 25565401

2015
dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. 26364767

2015
dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Somatic mosaicism for a FOXG1 mutation: diagnostic implication. 24766421

2014
dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014
dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. 22998673

2012
dbSNP: rs1555321345
rs1555321345
FOXG1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 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