| | | Duplication (splice donor variant +1 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (splice acceptor variant) | Nephropathic cystinosis | |
| | CTNS, CTNS-AS1 (W150* +1 more) | Single nucleotide variant (nonsense) | Nephropathic cystinosis | |
| | CTNS, CTNS-AS1 (F15fs +1 more) | Deletion (frameshift variant) | Nephropathic cystinosis | |
| | | Deletion (frameshift variant +1 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (splice donor variant +1 more) | Nephropathic cystinosis | |
| | | Deletion (splice donor variant) | Nephropathic cystinosis | |
| | | Single nucleotide variant (splice acceptor variant) | Nephropathic cystinosis | |
| | CTNS, CTNS-AS1 (Y173H +1 more) | Single nucleotide variant (missense variant) | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (nonsense) | Nephropathic cystinosis | |
| | | Single nucleotide variant (nonsense) | Nephropathic cystinosis | |
| | | Single nucleotide variant (splice acceptor variant) | Nephropathic cystinosis | |
| | CTNS, CTNS-AS1 (T216fs +1 more) | Insertion (frameshift variant) | Nephropathic cystinosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Ocular cystinosis +3 more | |
| | | Deletion (frameshift variant) | Nephropathic cystinosis | |
| | | Single nucleotide variant (splice acceptor variant) | Nephropathic cystinosis | |
| | | Indel (frameshift variant) | Nephropathic cystinosis | |
| | | Single nucleotide variant (missense variant) | Nephropathic cystinosis | |
| | CTNS, CTNS-AS1 (W182* +1 more) | Single nucleotide variant (nonsense) | Nephropathic cystinosis | |
| | | Deletion (nonsense) | Nephropathic cystinosis | |
| | | Deletion (frameshift variant +1 more) | Nephropathic cystinosis +3 more | |
| | | Deletion (splice donor variant +1 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (nonsense) | Nephropathic cystinosis | |
| | | Duplication (frameshift variant) | Nephropathic cystinosis | |
| | | Duplication (splice acceptor variant) | Nephropathic cystinosis | |
| | CTNS, CTNS-AS1 (N177S +1 more) | Single nucleotide variant (missense variant) | Nephropathic cystinosis | |
| | | Single nucleotide variant (nonsense +1 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (intron variant) | Nephropathic cystinosis +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +2 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (missense variant) | Nephropathic cystinosis | |
| | | Deletion (inframe_deletion) | Ocular cystinosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephropathic cystinosis +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Nephropathic cystinosis +2 more | |
| | CTNS, CTNS-AS1 (C224* +1 more) | Single nucleotide variant (nonsense) | Nephropathic cystinosis +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Ocular cystinosis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Nephropathic cystinosis | |
| | CTNS, CTNS-AS1 (Q189* +1 more) | Single nucleotide variant (nonsense) | Nephropathic cystinosis +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Nephropathic cystinosis +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Ocular cystinosis +3 more | |
| | CTNS, CTNS-AS1 (Q231K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Microsatellite (frameshift variant) | Nephropathic cystinosis +3 more | |
| | CTNS-AS1, CTNS (R228C +1 more) | Single nucleotide variant (missense variant) | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (missense variant) | Ocular cystinosis +3 more | GConflicting classifications of pathogenicity |
| | CTNS, CTNS-AS1 (R81L +1 more) | Single nucleotide variant (missense variant) | Nephropathic cystinosis +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (missense variant) | Nephropathic cystinosis | |
| | | Single nucleotide variant (missense variant) | Nephropathic cystinosis | |
| | | Single nucleotide variant (missense variant +2 more) | Nephropathic cystinosis +3 more | |
| | | Single nucleotide variant (missense variant) | Nephropathic cystinosis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Copy number loss | Nephropathic cystinosis +2 more | |
| | | Single nucleotide variant | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Nephropathic cystinosis +3 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (nonsense +2 more) | Ocular cystinosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cystinosis +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Nephropathic cystinosis | |
| | | Single nucleotide variant (missense variant +1 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Nephropathic cystinosis | |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +3 more | |
| | CTNS, CTNS-AS1 (A212T +1 more) | Single nucleotide variant (missense variant) | Ocular cystinosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Ocular cystinosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Cystinosis +4 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Ocular cystinosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nephropathic cystinosis +1 more | |
| | CTNS, CTNS-AS1 (V221M +1 more) | Single nucleotide variant (missense variant) | Ocular cystinosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Ocular cystinosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephropathic cystinosis +1 more | |