| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | PRKAG2, PRKAG2-AS1 +1052 more | Copy number gain | See cases | |
| | LOC129389895, LOC129389896 +1046 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TRC-GCA9-3, TRC-GCA9-4 +1019 more | Copy number gain | See cases | |
| | LOC129999635, LOC129999636 +944 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | EPHA1-AS1, EPHB6 +888 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999716, LOC129999717 +847 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | KLRG2, LOC129999472 (R192G) | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (L172M) | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (L171H) | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (P159S) | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (R149G) | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (V128M) | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (E108K) | Single nucleotide variant (missense variant) | not specified | |