List of variants reported as likely pathogenic for Kleefstra syndrome 2

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

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000007.13:g.(151871328_151873275)_(151933019_151935791)del
NM_170606.3(KMT2C):c.10300dup (p.His3434fs)
NM_170606.3(KMT2C):c.11269_11270del (p.Gln3757fs)
NM_170606.3(KMT2C):c.11812+2T>C	rs2129099779
NM_170606.3(KMT2C):c.12646_12653del (p.Asp4216fs)
NM_170606.3(KMT2C):c.12666+1G>A
NM_170606.3(KMT2C):c.13198C>T (p.Arg4400Trp)	rs144905657
NM_170606.3(KMT2C):c.13334G>A (p.Gly4445Asp)	rs2091357682
NM_170606.3(KMT2C):c.13894+2T>G
NM_170606.3(KMT2C):c.14068C>T (p.Arg4690Ter)
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter)	rs1554580083
NM_170606.3(KMT2C):c.2483del (p.Pro828fs)
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter)	rs58528565
NM_170606.3(KMT2C):c.3599C>G (p.Ser1200Ter)	rs2129145649
NM_170606.3(KMT2C):c.3619A>G (p.Lys1207Glu)	rs2129145634
NM_170606.3(KMT2C):c.4299_4307del (p.Asp1433_Ser1435del)	rs1588119681
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)	rs587777073
NM_170606.3(KMT2C):c.4629delinsCC (p.Thr1545fs)	rs2129128809
NM_170606.3(KMT2C):c.5088dup (p.Ala1697fs)	rs2093489078
NM_170606.3(KMT2C):c.5937del (p.Lys1980fs)
NM_170606.3(KMT2C):c.6769C>T (p.Arg2257Ter)
NM_170606.3(KMT2C):c.6925C>T (p.Gln2309Ter)	rs2129119384
NM_170606.3(KMT2C):c.749G>A (p.Trp250Ter)
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter)	rs779659766
NM_170606.3(KMT2C):c.7613dup (p.Gln2539fs)	rs1554496813
NM_170606.3(KMT2C):c.9262+1G>A
Single allele

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.