| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125146383, LOC125146384 +556 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CORO7-PAM16, LOC121530613 +40 more | Deletion | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058360, LOC130058361 +66 more | Deletion | Rubinstein-Taybi syndrome | |
| | | Copy number loss | See cases | |
| | LOC130058361, LOC130058362 +10 more | Deletion | Secondary microcephaly +5 more | |
Click to view in NCBI Gene