Deletion | NC_000017.11:g.(?_3647444)_(3658175_?)del | CTNS | Pathogenic | 17 | 3550738 | 3561469 | na | na | criteria provided, single submitter | - |
Duplication | NM_004937.3(CTNS):c.829dup (p.Thr277fs) | CTNS | Pathogenic | 17 | 3561445 | 3561446 | C | CA | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004937.3(CTNS):c.562-2_562-1del | CTNS | Likely pathogenic | 17 | 3559968 | 3559969 | CAG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.225+1G>A | CTNS | Pathogenic/Likely pathogenic | 17 | 3552226 | 3552226 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_004937.3(CTNS):c.971-1dup | CTNS | Likely pathogenic | 17 | 3563528 | 3563529 | A | AG | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.890G>A (p.Trp297Ter) | CTNS | Pathogenic | 17 | 3563189 | 3563189 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_004937.3(CTNS):c.869dup (p.Tyr290Ter) | CTNS | Likely pathogenic | 17 | 3563167 | 3563168 | T | TA | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.853-1G>A | CTNS | Likely pathogenic | 17 | 3563151 | 3563151 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.451A>G (p.Arg151Gly) | CTNS | Likely pathogenic | 17 | 3558636 | 3558636 | A | G | criteria provided, single submitter | - |
Deletion | NM_004937.3(CTNS):c.681+1del | CTNS | Likely pathogenic | 17 | 3560089 | 3560089 | AG | A | criteria provided, single submitter | - |