| | LOC129997469, LOC129997470 +1002 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129997593, LOC129997594 +563 more | Copy number loss | See cases | |
| | LOC129997707, LOC129997708 +548 more | Copy number loss | See cases | |
| | LOC126859906, LOC126859907 +539 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC113174973, LOC116183078 +321 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129997712, LOC129997713 +299 more | Copy number loss | See cases | |
| | LOC129997709, LOC129997710 +297 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Copy number loss | See cases | |
| | CAHM, DKFZp451B082 +20 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | CAHM, DKFZp451B082 +17 more | Copy number gain | See cases | |
| | CAHM, DKFZp451B082 +13 more | Copy number gain | See cases | |
| | CAHM, DKFZp451B082 +13 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Deletion (intron variant) | not provided | |
| | | 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 loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Hydrocephalus | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Complex | Coffin-Siris syndrome 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | C6orf118, LOC729681 +9 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |