| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129388541, LOC129388542 +570 more | Copy number gain | See cases | |
| | LOC129930559, LOC129930560 +422 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129930848, LOC129930849 +558 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126805749, LOC126805750 +331 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129930737, LOC129930738 +90 more | Copy number loss | See cases | |
| | LOC129930731, LOC129930732 +165 more | Copy number loss | See cases | |
| | | Duplication | not specified | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Intellectual disability, severe | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
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