| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | FBXO45, LOC129938294 (A33T) | Single nucleotide variant (missense variant) | not specified | |
| | FBXO45, LOC129938294 (A15T) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | FBXO45, LOC129938294 (G29C) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | FBXO45, LOC129938294 (G9R) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Isolated anorectal malformation | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 3q29 microdeletion syndrome | |
| | LOC129938278, LOC129938279 +114 more | Deletion | Chromosome 3q29 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 3q29 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 3q28q29 deletion syndrome | |
| | | Copy number gain | See cases | |
| | | Duplication | not provided | |
| | | Copy number gain | Delayed speech and language development +1 more | |
| | | Copy number gain | Motor delay +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Schizophrenia | |
| | LOC123464504, LOC123464505 +108 more | Deletion | Schizophrenia | |
| | LOC123464504, LOC129938307 +114 more | Duplication | Autism | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | 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 | Chromosome 3q29 microdeletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129938260, LOC129938261 +1064 more | Copy number gain | See cases | |
| | TM4SF19-DYNLT2B, TMEM44 +313 more | Copy number gain | See cases | |
| | FBXO45, LINC00885 +110 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC108281160, LOC108281177 +1247 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | Gconflicting data from submitters |
| | | Copy number loss | See cases | |
| | ABCC5, ABCC5-AS1 +1245 more | Copy number gain | See cases | |
| | LOC129938169, LOC129938170 +1318 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938282, LOC129938283 +866 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938077, LOC129938078 +1041 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938303, LOC129938304 +133 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938284, LOC129938285 +166 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |