| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | LOC125048449, LOC125048450 +3277 more | Copy number gain | See cases | |
| | LOC112214170, LOC112214171 +840 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861917, LOC126861918 +225 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | BAZ1A, BAZ1A-AS1 +156 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | PSMA6-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | PSMA6-related disorder +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | PRORP-PSMA6, PSMA6 (T19I +1 more) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | | Single nucleotide variant (intron variant) | PSMA6-related disorder | |
| | PRORP-PSMA6, PSMA6 (I143T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PRORP-PSMA6, PSMA6 (V104M +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PRORP-PSMA6, PSMA6 (V140I +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PRORP-PSMA6, PSMA6 (A241G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Ectodermal dysplasia and immunodeficiency 2 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Seizure | |
| | | Deletion | Brain-lung-thyroid syndrome | |
| | | Copy number loss | Poor motor coordination | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | Gconflicting data from submitters |