| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | LOC129932908, LOC129932909 +270 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | LOC129932885, LOC129932886 +9 more | Duplication | Dilated cardiomyopathy 1AA +1 more | |
| | | Copy number gain | See cases | |
| | LOC129932859, LOC129932860 +869 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121264, LOC110121265 +301 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932775, LOC129932776 +655 more | Copy number gain | See cases | |
| | LOC129932948, LOC129932949 +954 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932613, LOC129932614 +949 more | Copy number gain | See cases | |
| | LOC128772241, LOC128772242 +952 more | Copy number gain | See cases | |
| | LOC129932666, LOC129932667 +954 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932646, LOC129932647 +967 more | Copy number gain | See cases | |
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