| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (no sequence alteration) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more | |
Click to view in NCBI Gene