"Medical Genetics Section, University of Rome Tor Vergata"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254214	NM_001081563.2(DMPK):c.224_283CTG[28]CCG[2]CTG[2]CCG[1]CTG[88]	DM1-AS, DMPK +3 more	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 254213	NM_001081563.2(DMPK):c.224_283CTG[30]CCG[2]CTG[2]CCG[1]CTG[105]	DM1-AS, DMPK +3 more	Microsatellite	Steinert myotonic dystrophy syndrome	GPathogenic