Gene Mutation Browser

Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
FOXG1	164874	613454	14q12	c.217C>T (Q73X)		RETT SYNDROME, CONGENITAL VARIANT	1
FOXG1	164874	613454	14q12	c.256dupC (p.Gln86Profs*35)		RETT SYNDROME, CONGENITAL VARIANT	6
FOXG1	164874	613454	14q12	c.460dupG (p.Glu154Glyfs*301)	0007	RETT SYNDROME, CONGENITAL VARIANT	4
FOXG1	164874	613454	14q12	c.49_58delTCGTTCAGCA (p.F18TfsX188)		RETT SYNDROME, CONGENITAL VARIANT	1
FOXG1	164874	613454	14q12	c.506delG (p.Gly169Alafs*23)		RETT SYNDROME, CONGENITAL VARIANT	2
FOXG1	164874	613454	14q12	c.507del (p.Gly169Glyfs*23)		RETT SYNDROME, CONGENITAL VARIANT	2
FOXG1	164874	613454	14q12	c.53_54insT (p.S19QfsX120)		RETT SYNDROME, CONGENITAL VARIANT	2
FOXG1	164874	613454	14q12	c.561C>G (p.Asn187Lys)		RETT SYNDROME, CONGENITAL VARIANT	1
FOXG1	164874	613454	14q12	c.569T>A (p.Ile190Asn)		RETT SYNDROME, CONGENITAL VARIANT	1
FOXG1	164874	613454	14q12	c.623A>G		RETT SYNDROME, CONGENITAL VARIANT	2
FOXG1	164874	613454	14q12	c.644T>C (p.Phe215Ser)		RETT SYNDROME, CONGENITAL VARIANT	1
FOXG1	164874	613454	14q12	c.670G>A, p.Gly224Ser		RETT SYNDROME, CONGENITAL VARIANT	3
FOXG1	164874	613454	14q12	c.688C>T, p.Arg230Cys		RETT SYNDROME, CONGENITAL VARIANT	3
FOXG1	164874	613454	14q12	c.689G>T (p.Arg230Leu)		RETT SYNDROME, CONGENITAL VARIANT	1
FOXG1	164874	613454	14q12	c.695A>G (p.N232S)		RETT SYNDROME, CONGENITAL VARIANT	3
FOXG1	164874	613454	14q12	c.730C>T (p.Arg244Cys)		RETT SYNDROME, CONGENITAL VARIANT	1
FOXG1	164874	613454	14q12	c.770T>G (p.Leu257Arg)		RETT SYNDROME, CONGENITAL VARIANT	1
FOXG1	164874	613454	14q12	c.85_90delCAGAACinsA (p.Gln29Argfs*90)		RETT SYNDROME, CONGENITAL VARIANT	1
FOXG1	164874	613454	14q12	c.924G>A (p.W308X)		RETT SYNDROME, CONGENITAL VARIANT	3
FOXG1	164874	613454	14q12	c.975_975insA		RETT SYNDROME, CONGENITAL VARIANT	4