| | | Single nucleotide variant (non-coding transcript variant) | PRKAG2-related disorder | |
| | LOC129999716, LOC129999717 +847 more | Copy number gain | Neurodevelopmental disorder | |
| | EPHA1-AS1, EPHB6 +888 more | Copy number gain | Neurodevelopmental disorder | |
| | PRKAG2-AS1, LOC129999670 +1 more | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Wolff-Parkinson-White pattern +2 more | |
| | LOC129999670, PRKAG2 +1 more | Single nucleotide variant | not provided | |
| | LOC129999670, PRKAG2 +1 more | Single nucleotide variant | Lethal congenital glycogen storage disease of heart +2 more | |
| | LOC129999670, PRKAG2 +1 more | Single nucleotide variant | Lethal congenital glycogen storage disease of heart +2 more | |
| | LOC129999670, PRKAG2 +1 more | Single nucleotide variant | not provided +2 more | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant) | Lethal congenital glycogen storage disease of heart +2 more | |
| | PRKAG2, PRKAG2-AS1 +1052 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129389895, LOC129389896 +1046 more | Copy number gain | 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 gain | See cases | |
| | LOC129999635, LOC129999636 +944 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999684, LOC129999685 +538 more | Copy number loss | See cases | |
| | LOC129999721, LOC129999722 +707 more | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | ABCF2, ABCF2-H2BK1 +315 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129389944, LOC129389945 +271 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ABCF2, ABCF2-H2BK1 +98 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999655, LOC129999656 +533 more | Copy number loss | See cases | |
| | LOC129999681, LOC129999682 +573 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | TRC-GCA9-3, TRC-GCA9-4 +1019 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |