Gene Mutation Browser

Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
RYR1	180901	180901	19q13.2	ARG109TRP	.0026	CENTRONUCLEAR MYOPATHY	3
RYR1	180901	117000	19q13.2	ARG1772GLY		CENTRAL CORE DISEASE OF MUSCLE	1
RYR1	180901	180901	19q13.2	ARG2241*	.0039	CENTRONUCLEAR MYOPATHY	2
RYR1	180901	117000	19q13.2	ARG401CYS		MALIGNANT HYPERTHERMIA	1
RYR1	180901	117000	19q13.2	Arg4861His	0019	CENTRAL CORE DISEASE OF MUSCLE	3
RYR1	180901	117000	19q13.2	ARG975TRP		CENTRAL CORE DISEASE OF MUSCLE	3
RYR1	180901	117000	19q13.2	c.13724A>C	1	CENTRAL CORE DISEASE OF MUSCLE	3
RYR1	180901	117000	19q13.2	c.6295_6351dup57		CENTRAL CORE DISEASE OF MUSCLE	1
RYR1	180901	117000	19q13.2	c.631+1 G>T	631+1 G>T	CENTRAL CORE DISEASE OF THE MUSCLE	1
RYR1	180901	145600	19q13.2	c.6584C>T	1	KING DENBOROUGH SYNDROME AND MINICORE MYOPATHY WITH EXTERNAL OPTHALMOPLEGIA	1
RYR1	180901	117000	19q13.2	Gly4444-Gly4450dup		CENTRAL CORE DISEASE OF MUSCLE	1
RYR1	180901	117000	19q13.2	ILE4898THR	0012	CENTRAL CORE DISEASE	3
RYR1	180901	117000	19q13.2	Lys3867Thr		CENTRAL CORE DISEASE	1
RYR1	180901	117000	19q13.2	p.Q1589P		CENTRAL CORE DISEASE	2
RYR1	180901	117000	19q13.2	Thr4709Met		CENTRAL CORE DISEASE OF THE MUSCLE	2