| | LOC126862063, RCOR1 (T239M) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126862063, RCOR1 (R248C) | Single nucleotide variant (missense variant) | not provided | |
| | MIR4538, MIR4539 +397 more | Copy number loss | Neurodevelopmental disorder | |
| | | Deletion | Mitochondrial complex 4 deficiency, nuclear type 17 | |
| | LOC126862063, RCOR1 (R251W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130056617, LOC130056618 +571 more | Copy number loss | See cases | |
| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC00605, LINC00677 +416 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056627, LOC130056628 +653 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | IGHD3-22, IGHD3-3 +670 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +1071 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC105378183, LOC112163684 +164 more | Copy number loss | See cases | |
| | LOC130056492, LOC130056485 +561 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC00677, LINC01550 +666 more | Copy number loss | See cases | |