NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs)Pathogenic
not provided|Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
β
β
ββ2025β Residue 362
NM_001348716.2(KDM6B):c.685C>T (p.Arg229Ter)Pathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities|not provided|Intellectual disability
β
β
ββ2025β Residue 229
NM_001348716.2(KDM6B):c.4187_4189del (p.Phe1396del)Pathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities|not provided
β
β
ββ2025β Residue 1396
NM_001348716.2(KDM6B):c.1483C>T (p.Arg495Ter)Pathogenic
Neurodevelopmental delay|Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities|not provided
β
β
ββ2025β Residue 495
NM_001348716.2(KDM6B):c.2865dup (p.Ala956fs)Likely pathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
β
β
ββ2025β Residue 956
NM_001348716.2(KDM6B):c.1416_1417del (p.Cys473fs)Pathogenic
not provided|Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
β
β
ββ2025β Residue 473
NM_001348716.2(KDM6B):c.1299_1300del (p.His434fs)Pathogenic
See cases|Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
β
β
ββ2025β Residue 434
NM_001348716.2(KDM6B):c.595C>T (p.Arg199Ter)Pathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities|not provided
β
β
ββ2023β Residue 199
NM_001348716.2(KDM6B):c.4495C>T (p.Arg1499Ter)Pathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
β
β
ββ2022β Residue 1499
NM_001348716.2(KDM6B):c.4436ACA[1] (p.Asn1480del)Likely pathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
β
βββ2025β Residue 1480
NM_001348716.2(KDM6B):c.2118del (p.Arg707fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 707
NM_001348716.2(KDM6B):c.4737+2T>CPathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities|Gastric cancer
β
βββ2025
NM_001348716.2(KDM6B):c.4506_4510del (p.Trp1502_Glu1504delinsTer)Pathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
β
βββ2025β Residue 1502
NM_001348716.2(KDM6B):c.1507G>T (p.Glu503Ter)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 503
NM_001348716.2(KDM6B):c.1087_1088del (p.Ser363fs)Likely pathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
β
βββ2025β Residue 363
NM_001348716.2(KDM6B):c.2584C>T (p.Gln862Ter)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 862
NM_001348716.2(KDM6B):c.1172del (p.Pro391fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 391
NM_001348716.2(KDM6B):c.1108_1115delinsCGTTTCACCAGCAG (p.Met370_Asp371delinsArgPheThrSer)Likely pathogenic
not provided
β
βββ2025β Residue 370
NM_001348716.2(KDM6B):c.2041C>T (p.Gln681Ter)Pathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
β
βββ2024β Residue 681
NM_001348716.2(KDM6B):c.1537dup (p.Arg513fs)Pathogenic
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities|not provided
β
βββ2024β Residue 513