ClinVar Miner

List of variants reported as pathogenic for Nakajo-Nishimura syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter) rs1553209373
NM_004159.5(PSMB8):c.212C>T (p.Thr71Met)
NM_004159.5(PSMB8):c.301A>C (p.Lys101Gln) rs1554239543
NM_004159.5(PSMB8):c.590G>T (p.Gly197Val) rs387906680
PSMB8, CYS135TER (rs146254972)
PSMB8, GLY201VAL
PSMB8, THR75MET

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.