ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_001318852.2(MAPK8IP3):c.1385A>G (p.Glu462Gly)
NM_001318852.2(MAPK8IP3):c.281A>G (p.Tyr94Cys)
NM_015133.5(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_015133.5(MAPK8IP3):c.1198G>A (p.Gly400Arg) rs1596711175
NM_015133.5(MAPK8IP3):c.1331T>C (p.Leu444Pro) rs1567198751
NM_015133.5(MAPK8IP3):c.1574G>A (p.Arg525Gln) rs1596780112
NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) rs1567203083
NM_015133.5(MAPK8IP3):c.2982C>G (p.His994Gln) rs1163583945
NM_015133.5(MAPK8IP3):c.3436C>T (p.Arg1146Cys) rs1567214097
NM_015133.5(MAPK8IP3):c.65del (p.Gly22fs) rs1567128142
NM_015133.5(MAPK8IP3):c.79G>T (p.Glu27Ter) rs1479142047

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.