| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129935026, TBR1 (T532fs) | Microsatellite (frameshift variant) | Severe global developmental delay +12 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
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