| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129388541, LOC129388542 +570 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132088736, LOC132088737 +557 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126805749, LOC126805750 +331 more | Copy number loss | See cases | |
| | LOC129930732, LOC129930733 +269 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | not specified | |
| | ANKRD13C, ANKRD13C-DT +80 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GADD45A, LOC126805751 (E105K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Intellectual disability, severe | |
| | | Copy number gain | Global developmental delay +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
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