ClinVar Miner

List of variants reported as uncertain significance for Nakajo-Nishimura syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_004159.5(PSMB8):c.*178G>A rs886061309
NM_004159.5(PSMB8):c.*24G>T rs115441230
NM_004159.5(PSMB8):c.*6G>C rs371747700
NM_004159.5(PSMB8):c.*8G>A rs376750959
NM_004159.5(PSMB8):c.135+248C>T rs886061311
NM_004159.5(PSMB8):c.155C>A (p.Ser52Tyr) rs886061310
NM_004159.5(PSMB8):c.155_156delinsGT (p.Ser52Cys) rs1562352512
NM_004159.5(PSMB8):c.217G>A (p.Ala73Thr)
NM_004159.5(PSMB8):c.228C>G (p.Phe76Leu)
NM_004159.5(PSMB8):c.283A>G (p.Ser95Gly) rs1381795628
NM_004159.5(PSMB8):c.294_295delinsAA (p.Val99Met)
NM_004159.5(PSMB8):c.359G>C (p.Cys120Ser)
NM_004159.5(PSMB8):c.374G>T (p.Arg125Leu) rs369078226
NM_004159.5(PSMB8):c.471G>A (p.Gln157=) rs41270492
NM_004159.5(PSMB8):c.503T>C (p.Met168Thr)
NM_004159.5(PSMB8):c.505A>G (p.Ile169Val)
NM_004159.5(PSMB8):c.621G>A (p.Met207Ile)
NM_004159.5(PSMB8):c.658G>T (p.Ala220Ser)
NM_004159.5(PSMB8):c.674G>A (p.Arg225His) rs547653681
NM_004159.5(PSMB8):c.683T>C (p.Ile228Thr)
NM_004159.5(PSMB8):c.689A>G (p.Tyr230Cys) rs55853041
NM_004159.5(PSMB8):c.703G>A (p.Asp235Asn) rs1554238810
NM_004159.5(PSMB8):c.719G>A (p.Gly240Asp)
NM_004159.5(PSMB8):c.743A>C (p.Lys248Thr)
NM_004159.5(PSMB8):c.788T>G (p.Leu263Arg) rs1554238585
NM_004159.5(PSMB8):c.792G>A (p.Leu264=) rs371969268
NM_004159.5(PSMB8):c.802C>T (p.Arg268Trp)
NM_004159.5(PSMB8):c.803G>A (p.Arg268Gln) rs368551668

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.