ClinVar Miner

List of variants reported as pathogenic for 2q23.1 microdeletion syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_018328.4(MBD5):c.1000del (p.Gln334fs) rs1574459612
NM_018328.4(MBD5):c.1025dup (p.Ser343fs) rs1553518511
NM_018328.4(MBD5):c.2299_2302del (p.Asn767fs) rs1060501153
NM_018328.4(MBD5):c.2321del (p.Pro774fs) rs1553518752
NM_018328.4(MBD5):c.2586_2667del (p.Ser863fs) rs1559094754
NM_018328.4(MBD5):c.2633del (p.Pro878fs) rs1553519853
NM_018328.4(MBD5):c.379del (p.Ser127fs) rs1553517984
NM_018328.4(MBD5):c.397+1G>A rs1553517991
NM_018328.4(MBD5):c.4455del (p.Lys1486fs) rs1060501151
NM_018328.5(MBD5):c.698del (p.Gly233fs)

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.