Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:3563518
- GRCh38:
- Chr17:3660224
| CTNS | | Infantile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis,
Inborn genetic diseases, Nephropathic cystinosis | Pathogenic
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:3543516-3543519
- GRCh38:
- Chr17:3640222-3640225
| CTNS | T7fs | Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis,
Cystinosis, Infantile nephropathic cystinosis, Ocular cystinosis,
Juvenile nephropathic cystinosis, Nephropathic cystinosis, not provided,
Nephropathic cystinosis | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:3559867-3559893
- GRCh38:
- Chr17:3656573-3656599
| CTNS, CTNS-AS1 | | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases,
Infantile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis,
Nephropathic cystinosis, Nephropathic cystinosis | Pathogenic/Likely pathogenic
(Jul 16, 2022) | criteria provided, multiple submitters, no conflicts |