NM_003070.5(SMARCA2):c.2564G>A (p.Arg855Gln)Pathogenic
SMARCA2-related BAFopathy|not provided
★★☆☆2026→ Residue 855
NM_003070.5(SMARCA2):c.2554G>A (p.Glu852Lys)Pathogenic
not provided|Blepharophimosis-impaired intellectual development syndrome|Nicolaides-Baraitser syndrome
★★☆☆2025→ Residue 852
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys)Pathogenic
not provided|Nicolaides-Baraitser syndrome
★★☆☆2025→ Residue 1162
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)Pathogenic
not provided|Nicolaides-Baraitser syndrome|Intellectual disability|Intellectual disability;Hirsutism|Nonpapillary renal cell carcinoma
★★☆☆2025→ Residue 1201
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His)Pathogenic
Intellectual disability|Blepharophimosis-impaired intellectual development syndrome|Inborn genetic diseases|not provided
★★☆☆2024→ Residue 525
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys)Pathogenic
Intellectual disability|Blepharophimosis-impaired intellectual development syndrome|not provided
★★☆☆2024→ Residue 525
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly)Pathogenic
Nicolaides-Baraitser syndrome|not provided
★★☆☆2024→ Residue 1159
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met)Likely pathogenic
Nicolaides-Baraitser syndrome
★★☆☆2024→ Residue 1321
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys)Pathogenic
not provided|Nicolaides-Baraitser syndrome
★★☆☆2024→ Residue 1105
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His)Pathogenic
Nicolaides-Baraitser syndrome|Blepharophimosis-impaired intellectual development syndrome|Inborn genetic diseases
★★☆☆2024→ Residue 1105
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln)Pathogenic
not provided|Nicolaides-Baraitser syndrome|SMARCA2-related BAFopathy
★★☆☆2024→ Residue 1159
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro)Pathogenic
not provided|Nicolaides-Baraitser syndrome
★★☆☆2023→ Residue 1105
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln)Pathogenic
Intellectual disability|not provided|Blepharophimosis-impaired intellectual development syndrome|Inborn genetic diseases
★★☆☆2023→ Residue 505
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu)Pathogenic
Nicolaides-Baraitser syndrome|not provided|SMARCA2-related BAFopathy
★★☆☆2022→ Residue 883
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr)Pathogenic
Nicolaides-Baraitser syndrome|not provided
★★☆☆2022→ Residue 534
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His)Pathogenic
Intellectual disability|Inborn genetic diseases|Nicolaides-Baraitser syndrome|not provided|SMARCA2-related BAFopathy|Blepharophimosis-impaired intellectual development syndrome
★★☆☆2022→ Residue 937
NM_003070.5(SMARCA2):c.3479C>G (p.Ala1160Gly)Pathogenic
Nicolaides-Baraitser syndrome
★★☆☆2022→ Residue 1160
NM_003070.5(SMARCA2):c.3602C>A (p.Ala1201Glu)Pathogenic
not provided|Neurodevelopmental disorder
★★☆☆2021→ Residue 1201
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu)Pathogenic
Nicolaides-Baraitser syndrome|SMARCA2-related BAFopathy|not provided
★★☆☆2021→ Residue 783
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp)Likely pathogenic
Nicolaides-Baraitser syndrome|Intellectual disability
★★☆☆2020→ Residue 783