ClinVar Miner

List of variants in gene NSD1 reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_022455.4(NSD1):c.1310C>G (p.Ser437Ter) rs121908067
NM_022455.4(NSD1):c.3536del (p.Glu1179fs) rs1562213381
NM_022455.4(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.4(NSD1):c.4977dup (p.Arg1660fs) rs1562269320
NM_022455.4(NSD1):c.5997_5998insT (p.Thr2000fs) rs1562295135
NM_022455.4(NSD1):c.6151+1G>A rs1562296511
NM_022455.4(NSD1):c.6429C>G (p.His2143Gln) rs121908068
NM_022455.4(NSD1):c.6450dup (p.Lys2151fs) rs864309639
NM_022455.4(NSD1):c.6548G>C (p.Cys2183Ser) rs121908069
NM_022455.4(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.4(NSD1):c.7968_7971del (p.Gln2656fs) rs1562312238
NM_022455.4(NSD1):c.896del (p.Ser299fs) rs1562099585
NSD1, 1.9-MB DEL

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.