SMARCA2-related BAFopathy: genes and variants
SMARCA2-related BAFopathy is linked to 1 analyzed protein (SMARCA2). 7 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to SMARCA2-related BAFopathy
SMARCA2: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2
It provides ATP-dependent nucleosome remodeling activity to selected SWI/SNF complexes and helps control transcriptional access to chromatin. Heterozygous pathogenic variants cause Nicolaides-Baraitser syndrome or, through distinct mechanisms, blepharophimosis-intellectual-disability syndrome.
7 disease-causing and 2 uncertain variants in SMARCA2 are linked to SMARCA2-related BAFopathy.
Where SMARCA2-related BAFopathy variants cluster
- SMARCA2 Helicase ATP-binding (positions 736–901): 5 of 7 disease-causing changes, 6.8× more than its size predicts.
Known disease-causing variants in SMARCA2-related BAFopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SMARCA2 S783L | 783 | Helicase ATP-binding | Disease-causing (★★) |
| SMARCA2 R855Q | 855 | Helicase ATP-binding | Disease-causing (★★) |
| SMARCA2 P883L | 883 | Helicase ATP-binding | Disease-causing (★★) |
| SMARCA2 R937H | 937 | Disease-causing (★★) | |
| SMARCA2 R1159Q | 1159 | Helicase C-terminal | Disease-causing (★★) |
| SMARCA2 G752R | 752 | Helicase ATP-binding | Disease-causing (★) |
| SMARCA2 E852Q | 852 | Helicase ATP-binding | Disease-causing (★) |
Same protein, different disease
- Nicolaides-Baraitser syndrome is also caused by SMARCA2 variants; they fall mostly in different places as the SMARCA2-related BAFopathy variants (50 disease-causing).
- Blepharophimosis-impaired intellectual development syndrome is also caused by SMARCA2 variants; they fall mostly in different places as the SMARCA2-related BAFopathy variants (8 disease-causing).
Diseases related to SMARCA2-related BAFopathy
- Nicolaides-Baraitser syndrome, also linked to SMARCA2
- Blepharophimosis-impaired intellectual development syndrome, also linked to SMARCA2
- Pituitary stalk interruption syndrome, also linked to SMARCA2
Frequently asked questions
Which genes are linked to SMARCA2-related BAFopathy?
In CATVariant, SMARCA2-related BAFopathy is linked to 1 analyzed protein: SMARCA2 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2).
How many genetic variants are linked to SMARCA2-related BAFopathy?
9 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in SMARCA2-related BAFopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center