| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | LOC129993982, LOC129993983 +265 more | Copy number loss | Intellectual disability | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Primary amenorrhea | |
| | | Duplication | Primary amenorrhea | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +8 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +7 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +7 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +7 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +7 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +7 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +5 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +5 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +5 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +5 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +5 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +5 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +5 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +5 more | Deletion | Primary amenorrhea | |
| | GTF2H2, LOC111089946 +5 more | Copy number gain | See cases | |
| | GTF2H2, LOC111089946 +5 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +5 more | Copy number loss | See cases | |
| | GTF2H2, LOC111089946 +3 more | Copy number loss | See cases | |
| | | Deletion | Primary amenorrhea | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |