| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ARID1B, LOC115308161 +1 more (G12S +1 more) | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Indel (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Microsatellite (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Indel (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
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