| | | Copy number gain | See cases | |
| | LOC130009126, LOC130009127 +906 more | Copy number gain | See cases | |
| | LOC130009192, LOC130009193 +892 more | Copy number gain | See cases | |
| | LOC132090050, LOC132090051 +786 more | Copy number gain | See cases | |
| | LOC130008976, LOC130008977 +264 more | Copy number gain | See cases | |
| | CCDC60, LOC105370027 +6 more | Copy number gain | See cases | |
| | LOC105370027, TMEM233 (Y4H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (E29K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (M33T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (V43I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (A49V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (K83M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (V85L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (N108K) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | SLC15A5, SLC16A7 +1006 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |