| | | Duplication | Inborn genetic diseases +2 more | |
| | | Deletion | Inborn genetic diseases +2 more | |
| | | 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 | |
| | CTNS, CTNS-AS1 (V213L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Nephropathic cystinosis | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | CTNS, CTNS-AS1 (W182* +1 more) | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Deletion | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Duplication (frameshift variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Deletion (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +2 more | |
| | CTNS, CTNS-AS1 (Y173H +1 more) | Single nucleotide variant (missense variant) | Nephropathic cystinosis +3 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Duplication (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Duplication (intron variant) | Inborn genetic diseases +2 more | |
| | | 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 |
| | | 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) | Ocular 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 (nonsense) | Ocular cystinosis | |
| | CTNS, CTNS-AS1 (Q222R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CTNS, CTNS-AS1 (M148T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CTNS, CTNS-AS1 (P48S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | CTNS, CTNS-AS1 (Y79C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | CTNS-AS1, CTNS (A25S +1 more) | Single nucleotide variant (missense variant) | Ocular cystinosis +2 more | |
| | CTNS, CTNS-AS1 (N196K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | CTNS, CTNS-AS1 (V59I +1 more) | Single nucleotide variant (missense variant) | Ocular cystinosis +2 more | |