| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130007872, SMARCD1 (P36L) | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 | |
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