| | DDN-AS1, PRKAG1 (T218I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | DDN-AS1, PRKAG1 (V183M +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Kabuki syndrome | |
| | | Duplication | Kabuki syndrome | |
| | DDN-AS1, PRKAG1 (H250Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DDN-AS1, PRKAG1 (L9P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DDN-AS1, PRKAG1 (K298N +2 more) | Single nucleotide variant (missense variant) | EBV-positive nodal T- and NK-cell lymphoma | |
| | DDN-AS1, PRKAG1 (P126T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | DDN-AS1, PRKAG1 (Y214C +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DDN-AS1, PRKAG1 (R208H +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | DDN-AS1, PRKAG1 (R65H +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DDN-AS1, PRKAG1 (H36Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DDN-AS1, PRKAG1 (V123I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DDN-AS1, PRKAG1 (L245V +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Kabuki syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Inversion | not specified | |
| | SLC15A5, SLC16A7 +1006 more | 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 | |