List of variants in gene combination EHMT1, LOC130003148 reported as uncertain significance for Kleefstra syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.1614C>A (p.Asn538Lys)	rs752162672	0.00004
NM_024757.5(EHMT1):c.1538G>A (p.Gly513Asp)	rs2136356681
NM_024757.5(EHMT1):c.1544A>G (p.Gln515Arg)	rs2136356874
NM_024757.5(EHMT1):c.1570A>T (p.Met524Leu)	rs2136357245
NM_024757.5(EHMT1):c.1589G>A (p.Arg530Gln)
NM_024757.5(EHMT1):c.1590_1607dup (p.Glu531_Ala536dup)	rs1949928538
NM_024757.5(EHMT1):c.1600A>G (p.Thr534Ala)
NM_024757.5(EHMT1):c.1601C>T (p.Thr534Ile)	rs1949929524
NM_024757.5(EHMT1):c.1604T>C (p.Leu535Pro)	rs1172239495
NM_024757.5(EHMT1):c.1607_1631delinsTTGTTGGCCAGTG (p.Ala536_Glu544delinsValValGlyGlnTrp)
NM_024757.5(EHMT1):c.1613A>G (p.Asn538Ser)	rs1588581251
NM_024757.5(EHMT1):c.1625C>G (p.Ala542Gly)
NM_024757.5(EHMT1):c.1634G>A (p.Ser545Asn)

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.