| | | Copy number gain | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TMEM53-related condition | |
| | | Inversion | Bilateral polymicrogyria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (inframe_insertion) | Craniotubular dysplasia, Ikegawa type | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Deletion (intron variant) | TMEM53-related craniotubular dysplasia | |
| | | Duplication (frameshift variant +2 more) | TMEM53-related craniotubular dysplasia | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112590795, LOC122056854 +88 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |