Gene Mutation Browser

Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
NGLY1	610661	615273	3p24.2	3-BP DEL, 1205 TTC	0004	CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	1
NGLY1	610661	615273	3p24.2	ARG401TER	0002	CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	20
NGLY1	610661	615273	3p24.2	ARG542TER, c.1570C>T	0005	CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	1
NGLY1	610661	615273	3p24.2	c.1370dupG, R458FsTER	0003	CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	4
NGLY1	610661	615273	3p24.2	c.1604G>A		CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	3
NGLY1	610661	615273	3p24.2	c.1891delC	0001	CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	3
NGLY1	610661	615273	3p24.2	c.1910delT		CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	2
NGLY1	610661	615273	3p24.2	c.347C>G		CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	4
NGLY1	610661	615273	3p24.2	c.881+5G>T		CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	4
NGLY1	610661	615273	3p24.2	GLN208TER		CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	7
NGLY1	610661	615273	3p24.2	GLY310GLY		CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	7
NGLY1	610661	615273	3p24.2	LEU318PRO		CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG	1