| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806798, ZNF148 (H556P +1 more) | Single nucleotide variant (missense variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Copy number loss | not provided | |
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