ClinVar Miner

List of variants in gene NSD1 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_022455.4(NSD1):c.4786T>A (p.Cys1596Ser) rs1554199383
NM_022455.4(NSD1):c.4912C>T (p.His1638Tyr) rs1064796568
NM_022455.4(NSD1):c.5062_5064delATC (p.Ile1688del) rs1554200200
NM_022455.4(NSD1):c.5129G>T (p.Cys1710Phe) rs1057518133
NM_022455.4(NSD1):c.5521G>C (p.Ala1841Pro) rs1064795720
NM_022455.4(NSD1):c.5609A>G (p.Tyr1870Cys) rs1057521142
NM_022455.4(NSD1):c.5683T>C (p.Cys1895Arg) rs1554204102
NM_022455.4(NSD1):c.5740C>T (p.Arg1914Cys) rs587784154
NM_022455.4(NSD1):c.5815C>T (p.Arg1939Cys) rs1064796690
NM_022455.4(NSD1):c.5903T>C (p.Val1968Ala) rs1064795059
NM_022455.4(NSD1):c.5910G>C (p.Glu1970Asp) rs1554204594
NM_022455.4(NSD1):c.5989T>C (p.Tyr1997His) rs587784171
NM_022455.4(NSD1):c.5996T>C (p.Leu1999Pro) rs1085307903
NM_022455.4(NSD1):c.6009+1G>T rs1554204648
NM_022455.4(NSD1):c.6029G>A (p.Gly2010Asp) rs1064795588
NM_022455.4(NSD1):c.6058A>T (p.Asn2020Tyr) rs1057518052
NM_022455.4(NSD1):c.6158A>C (p.Glu2053Ala) rs1131691321
NM_022455.4(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.4(NSD1):c.6289A>G (p.Lys2097Glu) rs1057518286
NM_022455.4(NSD1):c.6412T>C (p.Cys2138Arg) rs1064795734
NM_022455.4(NSD1):c.6425A>C (p.Tyr2142Ser) rs1057518051
NM_022455.4(NSD1):c.6463G>A (p.Gly2155Arg) rs1554206845
NM_022455.4(NSD1):c.6492dup (p.Asp2165Terfs) rs1554207244
NM_022455.4(NSD1):c.6521_6523delTCT (p.Phe2174del) rs587784206
NM_022455.4(NSD1):c.6643_6644delCCinsGAT (p.Pro2215Aspfs) rs1554207344
NM_022455.4(NSD1):c.6965dupT (p.Ala2323Glyfs) rs1057517998

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.