List of variants in gene MTOR reported as likely pathogenic for central nervous system malformation

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

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His)	rs1023010218	0.00001
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp)
NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg)	rs2100901805
NM_004958.4(MTOR):c.3945-26_4016dup
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser)	rs2100609915
NM_004958.4(MTOR):c.4468T>C (p.Trp1490Arg)	rs2100566800
NM_004958.4(MTOR):c.4883G>A (p.Arg1628His)	rs777925640
NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser)	rs2100477650
NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr)	rs1057524049
NM_004958.4(MTOR):c.5912C>T (p.Ala1971Val)	rs2100414567
NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln)	rs2100402606
NM_004958.4(MTOR):c.6457A>G (p.Ile2153Val)	rs2100396600
NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro)	rs1057524044
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met)	rs1057519915
NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val)	rs2100280361

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.