single nucleotide variant | NM_004937.3(CTNS):c.734G>A (p.Trp245Ter) | CTNS | Likely pathogenic | 17 | 3561351 | 3561351 | G | A | criteria provided, single submitter | ClinGen:CA16041838 |
single nucleotide variant | NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln) | CTNS | Likely pathogenic | 17 | 3563661 | 3563661 | T | C | criteria provided, single submitter | ClinGen:CA16041839 |
single nucleotide variant | NM_004937.3(CTNS):c.944A>G (p.Gln315Arg) | CTNS | Likely pathogenic | 17 | 3563243 | 3563243 | A | G | criteria provided, single submitter | ClinGen:CA16620398 |
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.62-2A>G | CTNS | Likely pathogenic | 17 | 3550736 | 3550736 | A | G | 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 | - |
Deletion | NM_004937.3(CTNS):c.320_323del (p.Asn107fs) | CTNS | Likely pathogenic | 17 | 3558384 | 3558387 | CCAAT | C | 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.592del (p.Gly197_Val198insTer) | CTNS | Likely pathogenic | 17 | 3560000 | 3560000 | AG | A | criteria provided, single submitter | - |
Deletion | NM_004937.3(CTNS):c.681+1del | CTNS | Likely pathogenic | 17 | 3560089 | 3560089 | AG | A | criteria provided, single submitter | - |