| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | TRMT44, USP17L10 +633 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992123, LOC129992124 +461 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992180, LOC129992181 +597 more | Copy number loss | See cases | |
| | LOC129992081, LOC129992082 +479 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | USP17L22, USP17L24 +569 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992257, LOC129992258 +623 more | Copy number loss | See cases | |
| | LOC129992439, LOC129992440 +1039 more | Copy number gain | See cases | |
| | LOC129992004, LOC129992005 +861 more | Copy number gain | See cases | |
| | LOC129992188, LOC129992189 +832 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992143, LOC129992144 +618 more | Copy number gain | See cases | |
| | LOC129992049, LOC129992050 +537 more | Copy number loss | See cases | |
| | LOC123477718, LOC123477719 +987 more | Copy number gain | See cases | |
| | USP17L13, USP17L15 +716 more | Copy number gain | See cases | |
| | LOC129992176, LOC129992177 +439 more | Copy number loss | See cases | |
| | LOC129992238, LOC129992239 +659 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | LOC129992261, LOC129992262 +962 more | Copy number gain | Neurodevelopmental disorder | |
| | | Deletion | not provided | |
| | LOC129992303, LOC132089075 +365 more | Copy number loss | See cases | |
| | TADA2B, LOC100129931 (P64R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC100129931, TADA2B (E67A) | 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) | 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 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | USP17L10, USP17L11 +117 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | 4p16.3 microduplication syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | FETAL DEMISE | |
| | | 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | JAKMIP1, KIAA0232 +90 more | Copy number loss | 4p partial monosomy syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |