ClinVar Miner

List of variants in gene CENPJ reported as pathogenic for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter) rs797045447
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs) rs777893196
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs) rs797045448
NM_018451.5(CENPJ):c.1882del (p.Ala628fs) rs797045449
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs) rs797045452
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454

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.