Source: CLINVAR

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

dbSNP: rs879255530
rs879255530
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs879255530
rs879255530
FOXG1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869312700
rs869312700
FOXG1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312700
rs869312700
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312700
rs869312700
FOXG1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 CausalMutation CLINVAR

dbSNP: rs796052469
rs796052469
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Prospective observations on stopping prolonged venom immunotherapy. 2760358

1989
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630

2016
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation. 20356955

2010
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR FOXG1 is responsible for the congenital variant of Rett syndrome. 18571142

2008
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Somatic mosaicism for a FOXG1 mutation: diagnostic implication. 24766421

2014
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139

2017
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation. 20356955

2010
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Visual impairment in FOXG1-mutated individuals and mice. 27001178

2016
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy. 25565401

2015
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 27640358

2016
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. 26364767

2015
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014
dbSNP: rs796052462
rs796052462
FOXG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630

2016