| | LOC130060143, LOC130060144 +963 more | Copy number gain | See cases | |
| | MIR22HG, MIR3183 +464 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059866, LOC130059867 +499 more | Copy number loss | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | LOC130060025, LOC130060026 +458 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059934, LOC130059935 +243 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | not provided | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Nephropathic cystinosis | |
| | | Single nucleotide variant (intron variant) | Nephropathic cystinosis | |
| | LOC130060037, LOC130060038 +291 more | Copy number loss | See cases | |
| | | Deletion | Normal pregnancy | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Cystinosis | |
| | | Single nucleotide variant | Cystinosis | |
| | | Deletion | Ocular cystinosis +3 more | |
| | | Deletion | Ocular cystinosis +3 more | |
| | CTNS, LOC130059981 +2 more | Deletion | Ocular cystinosis +2 more | |
| | | Insertion | Ocular cystinosis | |
| | | Single nucleotide variant | Ocular cystinosis | |
| | | Single nucleotide variant | Juvenile nephropathic cystinosis +3 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Ocular cystinosis +1 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Microsatellite (5 prime UTR variant) | Nephropathic cystinosis +1 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +1 more | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | See cases | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephropathic cystinosis +3 more | |
| | | Deletion (frameshift variant +2 more) | CTNS-related condition +7 more | |
| | | Deletion (frameshift variant +2 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (missense variant +2 more) | Ocular cystinosis +2 more | |
| | | Deletion (frameshift variant +2 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Juvenile nephropathic cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Juvenile nephropathic cystinosis +2 more | |
| | | Deletion (nonsense +2 more) | Ocular cystinosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant +2 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Ocular cystinosis +2 more | |
| | | Microsatellite (nonsense +2 more) | Nephropathic cystinosis | |
| | | Deletion (splice donor variant +1 more) | Ocular cystinosis +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant +1 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (splice donor variant +1 more) | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +3 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) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Juvenile nephropathic cystinosis +3 more | |
| | | Deletion (splice acceptor variant +2 more) | Nephropathic cystinosis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Ocular cystinosis +3 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |