| | | Deletion (frameshift variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (synonymous variant) | Cystathioninuria | |
| | | Single nucleotide variant (missense variant) | Cystathioninuria +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (synonymous variant) | Cystathioninuria | |
| | | Single nucleotide variant (missense variant) | Cystathioninuria | |
| | | Single nucleotide variant (intron variant) | Cystathioninuria | |
| | | Single nucleotide variant (missense variant) | Cystathioninuria | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Cystathioninuria | |
| | | Single nucleotide variant (splice donor variant) | Cystathioninuria | |
| | | Single nucleotide variant (nonsense +1 more) | Cystathioninuria | |
| | | Single nucleotide variant (genic downstream transcript variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Insertion (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Cystathioninuria | |
| | | Microsatellite (intron variant) | Cystathioninuria | |
| | | Microsatellite (intron variant) | not provided +1 more | |
| | | Microsatellite (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cystathioninuria | |
| | | Single nucleotide variant (synonymous variant) | Cystathioninuria +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cystathioninuria | |
| | | Single nucleotide variant (missense variant +1 more) | Cystathioninuria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cystathioninuria | |
| | | Single nucleotide variant (missense variant) | Cystathioninuria | |
| | | Single nucleotide variant (synonymous variant) | Cystathioninuria | |
| | | Single nucleotide variant (intron variant) | Cystathioninuria +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant (5 prime UTR variant) | Cystathioninuria | |
| | | Single nucleotide variant | Cystathioninuria | |
| | | Single nucleotide variant (nonsense) | Cystathioninuria | |
| | | Single nucleotide variant (missense variant) | Cystathioninuria +1 more | |
| | | Single nucleotide variant (missense variant) | Cystathioninuria | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Cystathioninuria | |