NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln)Pathogenic
Okur-Chung neurodevelopmental syndrome|Inborn genetic diseases
β
β
ββ2026β Residue 47
NM_177559.3(CSNK2A1):c.400C>T (p.Arg134Ter)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome|CSNK2A1-related disorder
β
β
ββ2026β Residue 134
NM_177559.3(CSNK2A1):c.473A>G (p.Lys158Arg)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome
β
β
ββ2025β Residue 158
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome|Inborn genetic diseases|See cases|Neurodevelopmental delay
β
β
ββ2025β Residue 198
NM_177559.3(CSNK2A1):c.838C>T (p.Arg280Ter)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome
β
β
ββ2025β Residue 280
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome
β
β
ββ2025β Residue 50
NM_177559.3(CSNK2A1):c.997C>T (p.Arg333Ter)Pathogenic
CSNK2A1-related neurodevelopmental syndrome|not provided
β
β
ββ2025β Residue 333
NM_177559.3(CSNK2A1):c.139C>T (p.Arg47Ter)Pathogenic
Okur-Chung neurodevelopmental syndrome
β
β
ββ2025β Residue 47
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome
β
β
ββ2025β Residue 156
NM_177559.3(CSNK2A1):c.530G>A (p.Gly177Asp)Likely pathogenic
Okur-Chung neurodevelopmental syndrome|not provided
β
β
ββ2025β Residue 177
NM_177559.3(CSNK2A1):c.79G>A (p.Glu27Lys)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome
β
β
ββ2025β Residue 27
NM_177559.3(CSNK2A1):c.224dup (p.Lys76fs)Pathogenic
Okur-Chung neurodevelopmental syndrome|not provided
β
β
ββ2024β Residue 76
NM_177559.3(CSNK2A1):c.479A>G (p.His160Arg)Pathogenic
Okur-Chung neurodevelopmental syndrome|not provided
β
β
ββ2024β Residue 160
NM_177559.3(CSNK2A1):c.572G>A (p.Arg191Gln)Pathogenic
Okur-Chung neurodevelopmental syndrome|not provided
β
β
ββ2024β Residue 191
NM_177559.3(CSNK2A1):c.152G>A (p.Ser51Asn)Pathogenic
Okur-Chung neurodevelopmental syndrome|not provided|Intellectual disability
β
β
ββ2024β Residue 51
NM_177559.3(CSNK2A1):c.935G>A (p.Arg312Gln)Pathogenic
not provided
β
β
ββ2024β Residue 312
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp)Pathogenic
Okur-Chung neurodevelopmental syndrome|Inborn genetic diseases|not provided|Developmental disorder
β
β
ββ2024β Residue 312
NM_177559.3(CSNK2A1):c.529G>A (p.Gly177Ser)Pathogenic
Inborn genetic diseases|Okur-Chung neurodevelopmental syndrome|not provided
β
β
ββ2023β Residue 177
NM_177559.3(CSNK2A1):c.319C>T (p.Arg107Ter)Likely pathogenic
Okur-Chung neurodevelopmental syndrome|CSNK2A1-related disorder
β
β
ββ2023β Residue 107
NM_177559.3(CSNK2A1):c.916C>T (p.Arg306Ter)Likely pathogenic
Okur-Chung neurodevelopmental syndrome|not provided
β
β
ββ2022β Residue 306