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: rs786205004
rs786205004
FOXG1
1.000 0.120 14 28767830 frameshift variant -/C delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs1555321405
rs1555321405
FOXG1
1.000 14 28768359 frameshift variant -/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 15 1989 2017
dbSNP: rs1555321405
rs1555321405
FOXG1
1.000 14 28768359 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 15 1989 2017
dbSNP: rs1555321206
rs1555321206
FOXG1
1.000 0.120 14 28767449 frameshift variant -/GCCGCCCGCC delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 1.000 1 2014 2014
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: 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: rs587783641
rs587783641
FOXG1
1.000 0.120 14 28768036 missense variant A/G snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs786205486
rs786205486
FOXG1
1.000 0.120 14 28767973 missense variant A/G;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
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: rs879255530
rs879255530
FOXG1
0.925 0.160 14 28767832 missense variant A/T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs879255530
rs879255530
FOXG1
0.925 0.160 14 28767832 missense variant A/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs587783631
rs587783631
FOXG1
1.000 0.120 14 28767447 frameshift variant ACCCGCCGCC/- delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs786205010
rs786205010
FOXG1
1.000 0.120 14 28768066 frameshift variant ACGTG/- delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		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: rs1555321380
rs1555321380
FOXG1
1.000 0.120 14 28768223 frameshift variant C/- delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 1.000 2 2008 2016
dbSNP: rs587783636
rs587783636
FOXG1
1.000 0.120 14 28767573 frameshift variant C/- delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs786205011
rs786205011
FOXG1
1.000 0.120 14 28768248 frameshift variant C/- del
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
dbSNP: rs786205001
rs786205001
FOXG1
1.000 0.120 14 28767529 frameshift variant C/-;CC delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 1.000 2 2012 2016
dbSNP: rs587783629
rs587783629
FOXG1
1.000 0.120 14 28767411 frameshift variant C/-;CC;CCC delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.700 0
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: 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: 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