Gene Mutation Browser

Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
LAMA2	156225	607855	6q22-q23	2049_2050delAG		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A	3
LAMA2	156225	607855	6q22-q23	2370T>A		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A	1
LAMA2	156225	607855	6q22-q23	2T>C		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT	1
LAMA2	156225	607855	6q22-q23	35T>G		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT	2
LAMA2	156225	607855	6q22-q23	47delG		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A	1
LAMA2	156225	607855	6q22-q23	6429+1G>T		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A	1
LAMA2	156225	607855	6q22-q23	7297C>T		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A	2
LAMA2	156225	607855	6q22-q23	8669dupT		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A	1
LAMA2	156225	607855	6q22-q23	ARG2578TER	0008	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A	4
LAMA2	156225	607855	6q22-q23	c.3085C>T (p.Arg1029Ter)		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A	2
LAMA2	156225	607855	6q22-q23	c.363C>A (p.Tyr121Ter)		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A	2
LAMA2	156225	607855	6q22-q23	c.4198C>T (p.Arg1400Ter)		MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A	1
LAMA2	156225	607855	6q22-q23	c.6706A>C (p.Arg2236Arg)		Muscular dystrophy, congenital, merosin deficient or partially deficient	1
LAMA2	156225	607855	6q22-q23	CYS967TER	0013	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A	1