| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | ACTL6A-related BAFopathy | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | ACTL6A-related BAFopathy +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ACTL6A-related BAFopathy +1 more | |
| | | Single nucleotide variant (splice donor variant) | Global developmental delay +1 more | |
Click to view in NCBI Gene