NM_138576.4(BCL11B):c.2472C>A (p.Tyr824Ter)Likely pathogenic
not provided|Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β
β
ββ2025β Residue 824
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs)Pathogenic
not provided|Inborn genetic diseases|Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β
β
ββ2024β Residue 649
NM_138576.4(BCL11B):c.2346_2361del (p.Gly783fs)Pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities|See cases|not provided
β
β
ββ2023β Residue 783
NM_138576.4(BCL11B):c.1887_1893del (p.Gly630fs)Pathogenic
not provided|Immunodeficiency 49
β
β
ββ2023β Residue 630
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs)Pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities|Immunodeficiency 49
β
β
ββ2022β Residue 821
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)Pathogenic
Immunodeficiency 49|Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities|not provided
β
β
ββ2021β Residue 807
NM_138576.4(BCL11B):c.997G>A (p.Glu333Lys)Likely pathogenic
BCL11B-related disorder
β
βββ2026β Residue 333
NM_138576.4(BCL11B):c.2T>C (p.Met1Thr)Likely pathogenic
Inborn genetic diseases
β
βββ2025β Residue 1
NM_138576.4(BCL11B):c.2577C>G (p.Cys859Trp)Likely pathogenic
Inborn genetic diseases
β
βββ2025β Residue 859
NM_138576.4(BCL11B):c.1478C>A (p.Ser493Ter)Likely pathogenic
not provided
β
βββ2025β Residue 493
NM_138576.4(BCL11B):c.2646_2649del (p.Asn884fs)Likely pathogenic
not provided
β
βββ2025β Residue 884
NM_138576.4(BCL11B):c.2014_2023del (p.Lys672fs)Likely pathogenic
not provided
β
βββ2025β Residue 672
NM_138576.4(BCL11B):c.1887_1893dup (p.Asp632fs)Likely pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β
βββ2025β Residue 632
NM_138576.4(BCL11B):c.658_706del (p.Ser220fs)Pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β
βββ2024β Residue 220
NM_138576.4(BCL11B):c.2422T>C (p.Cys808Arg)Likely pathogenic
not provided
β
βββ2024β Residue 808
NM_138576.4(BCL11B):c.2476T>C (p.Cys826Arg)Pathogenic
not provided
β
βββ2024β Residue 826
NM_138576.4(BCL11B):c.908del (p.Pro303fs)Likely pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β
βββ2024β Residue 303
NM_138576.4(BCL11B):c.1460_1461insT (p.Ser488fs)Likely pathogenic
not provided
β
βββ2024β Residue 488
NM_138576.4(BCL11B):c.2474dup (p.Cys826fs)Likely pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β
βββ2024β Residue 826
NM_138576.4(BCL11B):c.2403C>A (p.Cys801Ter)Likely pathogenic
not provided
β
βββ2024β Residue 801