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: 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: rs1452295073
rs1452295073
FOXG1
1.000 0.120 14 28767780 frameshift variant G/-;GG delins
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: rs1555321294
rs1555321294
FOXG1
1.000 0.120 14 28767779 frameshift variant A/- del
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: rs1555321402
rs1555321402
FOXG1
0.925 0.240 14 28768345 frameshift variant T/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1555321402
rs1555321402
FOXG1
0.925 0.240 14 28768345 frameshift variant T/- delins
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 0
dbSNP: rs1555321402
rs1555321402
FOXG1
0.925 0.240 14 28768345 frameshift variant T/- delins
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.700 0
dbSNP: rs1566445169
rs1566445169
FOXG1
1.000 0.120 14 28767678 frameshift variant AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG/- delins
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
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0