Gene Mutations
 
Records Return:  (13) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
CTNS60627221980017p131261G>A CYSTINOSIS, NEPHROPATHIC1
CTNS60627221980017p135-BP DEL, NT5450010CYSTINOSIS, NEPHROPATHIC2
CTNS60627221980017p1357-KB DEL0005CYSTINOSIS, NEPHROPATHIC8
CTNS60627221975017p1357-KB DEL0005CYSTINOSIS, ADULT NONNEPHROPATHIC1
CTNS60627221980017p13DEL357GACT or 4-BP DEL, 18GACT0004CYSTINOSIS, NEPHROPATHIC1
CTNS60627221975017p13GLY197ARG, 589G>A0011CYSTINOSIS, ADULT NONNEPHROPATHIC1
CTNS60627221980017p13GLY339ARG0015CYSTINOSIS, NEPHROPATHIC1
CTNS60627221975017p13IVS10AS,C>G,-30009CYSTINOSIS, OCULAR NONNEPHROPATHIC1
CTNS60627221990017p13IVS11+2,T>C CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE3
CTNS60627221980017p13LEU158PRO CYSTINOSIS, NEPHROPATHIC2
CTNS60627221980017p13PRO48LEUfs*7 CYSTINOSIS, NEPHROPATHIC1
CTNS60627221980017p13TRP138TER0003CYSTINOSIS, NEPHROPATHIC1
CTNS60627221990017p13TRP138TER, 414G>A0003CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE3