| | MED4, MED4-AS1 (D253E +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion | Chromosome 13q14 deletion syndrome | |
| | LOC130009739, LOC130009740 +992 more | Copy number gain | See cases | |
| | LOC130009743, LOC130009744 +2024 more | Copy number gain | See cases | |
| | LOC126861839, LOC126861840 +2045 more | Copy number gain | See cases | |
| | LOC124849292, LOC124849293 +2028 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009911, LOC130009912 +938 more | Copy number gain | See cases | |
| | LINC00392, LINC00393 +1404 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009913, LOC130009914 +733 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ATP8A2, ATXN8OS +2048 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009813, LOC130009814 +729 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009962, LOC130009963 +1288 more | Copy number gain | See cases | |
| | LOC130010180, LOC130010181 +1557 more | Copy number gain | See cases | |
| | RBM26-AS1, RCBTB1 +1004 more | Copy number gain | See cases | |
| | LOC130009548, LOC130009549 +2024 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861801, LOC126861802 +2047 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009757, LOC130009758 +780 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |