| | | Single nucleotide variant (synonymous variant +1 more) | SLC3A1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | SLC3A1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | SLC3A1-related disorder | |
| | | Single nucleotide variant (intron variant) | PREPL-related disorder | |
| | | Single nucleotide variant (intron variant) | PREPL-related disorder | |
| | | Single nucleotide variant (intron variant) | Myasthenic syndrome, congenital, 22 +2 more | |
| | | Single nucleotide variant (synonymous variant) | PREPL-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | PREPL-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Myasthenic syndrome, congenital, 22 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | PREPL-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | PREPL-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PREPL-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | PREPL-related disorder +1 more | |
| | | Duplication (frameshift variant) | PREPL-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PREPL-related disorder +1 more | |
| | | Deletion (frameshift variant) | PREPL-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Myasthenic syndrome, congenital, 22 +1 more | |
| | | Single nucleotide variant (nonsense) | PREPL-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PREPL-related disorder | |