List of variants in gene combination KDM6B, LOC121587574 reported as uncertain significance for Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001348716.2(KDM6B):c.4165+3G>A	rs1466034954	0.00001
NM_001348716.2(KDM6B):c.3879+1dup
NM_001348716.2(KDM6B):c.3940C>T (p.Pro1314Ser)	rs140925165
NM_001348716.2(KDM6B):c.3949G>A (p.Ala1317Thr)	rs2151379293
NM_001348716.2(KDM6B):c.3995T>A (p.Ile1332Asn)
NM_001348716.2(KDM6B):c.4254G>T (p.Trp1418Cys)	rs2544533939
NM_001348716.2(KDM6B):c.4343A>G (p.Asn1448Ser)	rs2544534239
NM_001348716.2(KDM6B):c.4540A>G (p.Met1514Val)	rs2544534957
NM_001348716.2(KDM6B):c.4556G>A (p.Trp1519Ter)	rs2544534971
NM_001348716.2(KDM6B):c.4568G>C (p.Arg1523Pro)	rs2544534983

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.