| | LOC121740684, LOC121740685 +4735 more | Copy number loss | See cases | |
| | LOC111674474, LOC111674475 +2212 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | LOC129999653, LOC129999654 +1380 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999666, LOC129999667 +1052 more | Copy number gain | See cases | |
| | TMEM140, TMEM176A +1046 more | Copy number gain | See cases | |
| | LOC129999503, LOC129999504 +1025 more | Copy number gain | See cases | |
| | LINC00996, LINC01003 +1025 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | WDR86, WDR86-AS1 +944 more | Copy number loss | See cases | |
| | LOC129999526, LOC129999527 +908 more | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | LOC129999649, LOC129999650 +737 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999755, LOC129999756 +573 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC105375556, LOC105375589 +540 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860247, LOC126860248 +526 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999582, LOC129999583 +407 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | GIMAP8, LOC126860223 (I458V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126860223, GIMAP8 (S461R) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (R467W) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (E504K) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (R536Q) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (A546G) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (R588W) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (R588Q) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (R589C) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (F591S) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (K592E) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (A600T) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (F601S) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (A609V) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (Q613R) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (N622S) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (G629A) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (S631F) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (K655I) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP8, LOC126860223 (L660F) | Single nucleotide variant (missense variant) | not specified | |