Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555321367
rs1555321367
FOXG1
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
FOXG1
1.000 14 28768138 stop gained A/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 15 1989 2017
dbSNP: rs796052462
rs796052462
FOXG1
1.000 14 28767840 missense variant C/A;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 1989 2017
dbSNP: rs796052462
rs796052462
FOXG1
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: rs786205009
rs786205009
FOXG1
1.000 0.120 14 28768009 missense variant C/T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.800 1.000 3 2011 2014
dbSNP: rs764343290
rs764343290
FOXG1
1.000 0.120 14 28768302 stop gained C/G;T snv 4.0E-06
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 1.000 2 2010 2010
dbSNP: rs767961672
rs767961672
FOXG1
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs767961672
rs767961672
FOXG1
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs767961672
rs767961672
FOXG1
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2016 2016
dbSNP: rs767961672
rs767961672
FOXG1
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: rs1057516138
rs1057516138
FOXG1
1.000 0.120 14 28767833 missense variant G/C;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs1064797186
rs1064797186
FOXG1
1.000 0.120 14 28767964 missense variant A/C snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs121913678
rs121913678
FOXG1
1.000 0.120 14 28768044 stop gained G/A;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs138747073
rs138747073
FOXG1
0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs1555321237
rs1555321237
FOXG1
1.000 0.120 14 28767493 stop gained C/T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs1555321337
rs1555321337
FOXG1
1.000 0.120 14 28767992 missense variant G/A snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs1555321351
rs1555321351
FOXG1
1.000 0.120 14 28768043 stop gained G/A snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs1555321361
rs1555321361
FOXG1
1.000 0.120 14 28768103 missense variant G/C snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs1566445489
rs1566445489
FOXG1
1.000 0.120 14 28767982 missense variant C/T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs1566445533
rs1566445533
FOXG1
1.000 0.120 14 28768042 missense variant T/A snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0013132
Disease: Drooling
Drooling 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0