| | | Deletion | Reticular dysgenesis | |
| | | Single nucleotide variant (synonymous variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (synonymous variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (synonymous variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (intron variant) | Reticular dysgenesis | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Reticular dysgenesis | |
| | | Duplication (frameshift variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (missense variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (missense variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (synonymous variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (synonymous variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (missense variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (missense variant +2 more) | AK2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Reticular dysgenesis | |
| | | Single nucleotide variant (missense variant +2 more) | AK2-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Reticular dysgenesis | |
| | | Deletion | Reticular dysgenesis | |
| | | Single nucleotide variant (missense variant +3 more) | Reticular dysgenesis | |