single nucleotide variant | NM_004937.3(CTNS):c.681G>A (p.Glu227=) | CTNS | Pathogenic | 17 | 3560089 | 3560089 | G | A | criteria provided, multiple submitters, no conflicts | - |
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 | - |
Deletion | NM_004937.3(CTNS):c.320_323del (p.Asn107fs) | CTNS | Likely pathogenic | 17 | 3558384 | 3558387 | CCAAT | C | criteria provided, single submitter | - |
Deletion | NM_004937.3(CTNS):c.20del (p.Thr7fs) | CTNS | Likely pathogenic | 17 | 3543520 | 3543520 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.62-2A>G | CTNS | Likely pathogenic | 17 | 3550736 | 3550736 | A | G | criteria provided, single submitter | - |
Deletion | NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) | CTNS | Pathogenic/Likely pathogenic | 17 | 3543537 | 3543537 | TC | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004937.3(CTNS):c.-19-1G>A | CTNS | Likely pathogenic | 17 | 3543481 | 3543481 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.971-12G>A | CTNS | Pathogenic | 17 | 3563518 | 3563518 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA8291997 |
Deletion | NC_000017.11:g.(?_3636418)_(3656815_?)del | CTNS | Pathogenic | 17 | 3539712 | 3560109 | na | na | criteria provided, single submitter | - |