ClinVar Miner

List of variants reported as likely pathogenic for Kabuki syndrome 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NC_000023.10:g.(?_43479884)_(45501849_?)del
NC_000023.10:g.(?_43479884)_(46741003_?)del
NM_001291415.1(KDM6A):c.4101dup (p.Glu1368fs) rs1569542167
NM_021140.3(KDM6A):c.1425+1G>T
NM_021140.3(KDM6A):c.2832+2dup rs797045643
NM_021140.3(KDM6A):c.2938+2T>C rs1569537333
NM_021140.3(KDM6A):c.3144+1G>A
NM_021140.3(KDM6A):c.3584C>T (p.Pro1195Leu)
NM_021140.3(KDM6A):c.3598C>T (p.Leu1200Phe) rs1060499665
NM_021140.3(KDM6A):c.3635A>G (p.Gln1212Arg) rs797045644
NM_021140.3(KDM6A):c.3736+2T>C rs793888510
NM_021140.3(KDM6A):c.3769G>T (p.Glu1257Ter) rs1556357274
NM_021140.3(KDM6A):c.3835C>T (p.Arg1279Ter) rs863224886
NM_021140.3(KDM6A):c.4161T>A (p.Tyr1387Ter)
NM_021140.3(KDM6A):c.752G>A (p.Trp251Ter) rs793888509

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.