| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Macrocephaly, acquired, with impaired intellectual development | |
| | LOC124225049, LOC124225050 +4 more | Copy number loss | Relative macrocephaly +1 more | |
| | LOC124225049, LOC124225050 +3 more | Copy number loss | Intellectual disability +1 more | |
| | LINC03041, LINC03106 +898 more | Copy number gain | See cases | |
| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132089671, LOC132089672 +1213 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC03026, LINC03041 +1366 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC124225049, LOC124225050 +6 more | Copy number gain | See cases | |
| | LOC130001672, LOC130001673 +983 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860601, LOC126860602 +581 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ERVFRD-3, FAM219A +585 more | Copy number gain | See cases | |
| | LOC126860553, LOC126860554 +280 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001466, LOC130001467 +295 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124210616, LOC124225047 +410 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860576, LOC126860577 +897 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC130001469, LOC130001470 +898 more | Copy number gain | See cases | |