Gene Mutation Browser

Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
CTNS	606272	219800	17p13	1261G>A		CYSTINOSIS, NEPHROPATHIC	1
CTNS	606272	219800	17p13	5-BP DEL, NT545	0010	CYSTINOSIS, NEPHROPATHIC	2
CTNS	606272	219800	17p13	57-KB DEL	0005	CYSTINOSIS, NEPHROPATHIC	8
CTNS	606272	219750	17p13	57-KB DEL	0005	CYSTINOSIS, ADULT NONNEPHROPATHIC	1
CTNS	606272	219800	17p13	c.1015G>A	0015	CYSTINOSIS, NEPHROPATHIC	1
CTNS	606272	219800	17p13	c.225+5G>A		CYSTINOSIS, NEPHROPATHIC	1
CTNS	606272	219750	17p13	c.589G>A	0011	CYSTINOSIS, ADULT NONNEPHROPATHIC	1
CTNS	606272	219800	17p13	DEL357GACT or 4-BP DEL, 18GACT	0004	CYSTINOSIS, NEPHROPATHIC	1
CTNS	606272	219750	17p13	IVS10AS,C>G,-3	0009	CYSTINOSIS, OCULAR NONNEPHROPATHIC	1
CTNS	606272	219900	17p13	IVS11+2,T>C		CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	3
CTNS	606272	219800	17p13	LEU158PRO		CYSTINOSIS, NEPHROPATHIC	2
CTNS	606272	219800	17p13	TRP138TER	0003	CYSTINOSIS, NEPHROPATHIC	1
CTNS	606272	219900	17p13	TRP138TER, 414G>A	0003	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	3