ClinVar Miner

List of variants reported as 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
NM_001291415.1(KDM6A):c.1548_1551TCAT[3] (p.Trp519fs) rs1556311265
NM_001291415.1(KDM6A):c.1699del (p.Val567fs) rs797045642
NM_001291415.1(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.1(KDM6A):c.2065_2068del (p.Ser689fs) rs398122969
NM_001291415.1(KDM6A):c.2257_2258TC[4] (p.His754fs) rs1556328781
NM_001291415.1(KDM6A):c.2618_2619del (p.Ser873fs) rs1556330304
NM_001291415.1(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.1(KDM6A):c.2802_2803dup (p.Pro935fs)
NM_001291415.1(KDM6A):c.2988+1G>A rs1135401809
NM_001291415.1(KDM6A):c.2988+1G>C rs1135401809
NM_001291415.1(KDM6A):c.3172C>T (p.Gln1058Ter) rs1556341546
NM_001291415.1(KDM6A):c.3507_3509TCT[1] (p.Leu1171del) rs398122829
NM_001291415.1(KDM6A):c.3873G>A (p.Trp1291Ter) rs398122929
NM_001291415.1(KDM6A):c.4207C>T (p.Arg1403Ter)

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.