List of variants reported as pathogenic for X-linked myotubular myopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000252.2(MTM1):c.-76_-11del	rs2521957506
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)	rs587783762
NM_000252.3(MTM1):c.1371del (p.Glu457fs)	rs2522446951
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter)	rs2148434034
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter)	rs1057516031

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.