| | | Deletion | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Deletion | Glutathione synthetase deficiency with 5-oxoprolinuria | |
| | LOC126863016, RALY (R258W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126863016, RALY (T192M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126863016, RALY (G247S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126863016, RALY (R191H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126863016, RALY (K222R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Long QT syndrome | |
| | MAP1LC3A, MIR499A +25 more | Deletion | Long QT syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130065574, LOC130065575 +950 more | Copy number gain | See cases | |