ClinVar Miner

List of variants in gene EHMT1 reported as likely pathogenic for Kleefstra syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_024757.5(EHMT1):c.1042_1043dup (p.Asp349fs)
NM_024757.5(EHMT1):c.1249-2A>G rs1564697048
NM_024757.5(EHMT1):c.13_21+153del rs1564509503
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val) rs1554888939
NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter)
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) rs886041093
NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del) rs1554908290
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp) rs137852727
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531

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.