single nucleotide variant | NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) | CTNS | Pathogenic | 17 | 3558599 | 3558599 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340259,OMIM:606272.0003 |
Deletion | NM_004937.3(CTNS):c.423del (p.Phe142fs) | CTNS | Likely pathogenic | 17 | 3558607 | 3558607 | TC | T | criteria provided, single submitter | - |
Deletion | NM_004937.3(CTNS):c.562-2_562-1del | CTNS | Likely pathogenic | 17 | 3559968 | 3559969 | CAG | C | criteria provided, single submitter | - |
Duplication | NM_004937.3(CTNS):c.971-1dup | CTNS | Likely pathogenic | 17 | 3563528 | 3563529 | A | AG | criteria provided, single submitter | - |
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 | - |
Deletion | NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer) | CTNS | Likely pathogenic | 17 | 3560000 | 3560000 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.61+1G>A | CTNS | Likely pathogenic | 17 | 3543562 | 3543562 | G | A | criteria provided, single submitter | - |