| | LOC129933311, LOC129933312 +1631 more | Copy number gain | See cases | |
| | LINC01115, LINC01121 +1400 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 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Cystinuria | |
| | | Single nucleotide variant | Cystinuria | |
| | | Single nucleotide variant (5 prime UTR variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | SLC3A1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | SLC3A1-related disorder | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Duplication (nonsense) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (splice donor variant) | Cystinuria | |
| | | Deletion | Premature ovarian insufficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Myasthenic syndrome, congenital, 22 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Cystinuria | |
| | | Deletion | Myasthenic syndrome, congenital, 22 | |
| | | Single nucleotide variant (nonsense) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | SLC3A1-related disorder | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cystinuria | |
| | | Single nucleotide variant (intron variant) | Cystinuria | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |