| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (non-coding transcript variant +1 more) | Inborn genetic diseases +3 more | |
| | | Duplication (frameshift variant) | Coffin-Siris syndrome 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | ARID1B-related condition +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Coffin-Siris syndrome 1 | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
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