FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606828
rs267606828
1.000 0.120 14 28767922 missense variant T/C snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.800 1.000 3 2010 2016
dbSNP: rs786205009
rs786205009
1.000 0.120 14 28768009 missense variant C/T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.800 1.000 3 2011 2014
dbSNP: rs1555321345
rs1555321345
14 28768011 frameshift variant CCACTACGAC/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 15 1989 2017
dbSNP: rs1555321367
rs1555321367
1.000 14 28768138 stop gained A/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 15 1989 2017
dbSNP: rs1555321367
rs1555321367
1.000 14 28768138 stop gained A/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 15 1989 2017
dbSNP: rs1555321405
rs1555321405
1.000 14 28768359 frameshift variant -/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 15 1989 2017
dbSNP: rs1555321405
rs1555321405
1.000 14 28768359 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 15 1989 2017
dbSNP: rs796052462
rs796052462
1.000 14 28767840 missense variant C/A;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 15 1989 2017
dbSNP: rs796052462
rs796052462
1.000 14 28767840 missense variant C/A;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 15 1989 2017
dbSNP: rs398124204
rs398124204
0.925 0.160 14 28767733 frameshift variant G/-;GG delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 6 2010 2017
dbSNP: rs1555321380
rs1555321380
1.000 0.120 14 28768223 frameshift variant C/- delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 2 2008 2016
dbSNP: rs764343290
rs764343290
1.000 0.120 14 28768302 stop gained C/G;T snv 4.0E-06
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 2 2010 2010
dbSNP: rs786205001
rs786205001
1.000 0.120 14 28767529 frameshift variant C/-;CC delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 2 2012 2016
dbSNP: rs1555321206
rs1555321206
1.000 0.120 14 28767449 frameshift variant -/GCCGCCCGCC delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs767961672
rs767961672
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs767961672
rs767961672
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs767961672
rs767961672
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2016 2016
dbSNP: rs767961672
rs767961672
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs1057516138
rs1057516138
1.000 0.120 14 28767833 missense variant G/C;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1064797186
rs1064797186
1.000 0.120 14 28767964 missense variant A/C snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs121913678
rs121913678
1.000 0.120 14 28768044 stop gained G/A;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs138747073
rs138747073
0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1452295073
rs1452295073
1.000 0.120 14 28767780 frameshift variant G/-;GG delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555321237
rs1555321237
1.000 0.120 14 28767493 stop gained C/T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555321294
rs1555321294
1.000 0.120 14 28767779 frameshift variant A/- del
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0