NM_001291415.2(KDM6A):c.385-6049_385-6047delLikely pathogenic
Kabuki syndrome 2
β
β
ββ2026
NM_001291415.2(KDM6A):c.608_615del (p.Leu202_Ser203insTer)Pathogenic
Kabuki syndrome 2
β
β
ββ2025β Residue 202
NM_001291415.2(KDM6A):c.4243C>T (p.Arg1415Ter)Pathogenic
Kabuki syndrome 2
β
β
ββ2025β Residue 1415
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter)Pathogenic
Inborn genetic diseases|Kabuki syndrome 2|not provided|Kabuki syndrome 2;Kabuki syndrome 1
β
β
ββ2025β Residue 664
NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter)Pathogenic
Kabuki syndrome 2|Medulloblastoma non-WNT/non-SHH group 4
β
β
ββ2025β Residue 172
NM_001291415.2(KDM6A):c.3341_3344del (p.Asp1114fs)Pathogenic
not provided|Kabuki syndrome 2
β
β
ββ2024β Residue 1114
NM_001291415.2(KDM6A):c.4034+3_4034+6delPathogenic
not provided|Kabuki syndrome 2
β
β
ββ2024
NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter)Pathogenic
not provided|Neurodevelopmental disorder|Kabuki syndrome 2
β
β
ββ2024β Residue 710
NM_001291415.2(KDM6A):c.1581+1G>TLikely pathogenic
Kabuki syndrome 2|not provided
β
β
ββ2024
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter)Pathogenic
Kabuki syndrome 2|Inborn genetic diseases|not provided
β
β
ββ2024β Residue 571
NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter)Pathogenic
Kabuki syndrome 2|Anemia
β
β
ββ2024β Residue 1403
NM_001291415.2(KDM6A):c.3919C>T (p.Arg1307Trp)Pathogenic
Kabuki syndrome 2|Kabuki syndrome 1
β
β
ββ2023β Residue 1307
NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter)Pathogenic
Kabuki syndrome 2|not provided
β
β
ββ2023β Residue 1265
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter)Pathogenic
Kabuki syndrome 2|not provided|Malignant tumor of urinary bladder
β
β
ββ2023β Residue 165
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter)Pathogenic
Kabuki syndrome 2|not provided|Medulloblastoma WNT activated
β
β
ββ2022β Residue 1331
NM_001291415.2(KDM6A):c.2988+1G>APathogenic
not provided|Kabuki syndrome 2|Nonpapillary renal cell carcinoma|Neoplasm
β
β
ββ2022
NM_001291415.2(KDM6A):c.2597_2598del (p.Ser866fs)Pathogenic
Kabuki syndrome 2
β
β
ββ2022β Residue 866
NM_001291415.2(KDM6A):c.2482_2485del (p.Asp828fs)Pathogenic
not provided|Kabuki syndrome 2
β
β
ββ2019β Residue 828
NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter)Pathogenic
Kabuki syndrome 2
β
β
ββ2017β Residue 1058
NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg)Likely pathogenic
Kabuki syndrome 2|not provided
β
β
ββ2015β Residue 1264