List of variants reported as pathogenic for X-linked myotubular myopathy by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)	rs587783771	0.00001
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)	rs797045713
NM_000252.3(MTM1):c.342_342+4del	rs797045717
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	rs587783841
NM_000252.3(MTM1):c.63+1G>T	rs587783843

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.