single nucleotide variant | NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) | CTNS | Pathogenic/Likely pathogenic | 17 | 3563169 | 3563169 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA397692982 |
Deletion | NM_004937.3(CTNS):c.771_793del (p.Gly258fs) | CTNS | Pathogenic | 17 | 3561376 | 3561398 | TCGTGGCTGCAGTGGGAGTGACCA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA8291885 |
single nucleotide variant | NM_004937.3(CTNS):c.853-2A>G | CTNS | Pathogenic/Likely pathogenic | 17 | 3563150 | 3563150 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA397692891 |
Deletion | NM_004937.3(CTNS):c.206_210del (p.Ile69fs) | CTNS | Pathogenic | 17 | 3552206 | 3552210 | ATCCTT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA287009070,OMIM:606272.0010 |
Deletion | NC_000017.11:g.(?_3636418)_(3658195_?)del | CTNS | Pathogenic | 17 | 3539712 | 3561489 | na | na | criteria provided, single submitter | - |
Duplication | NM_004937.3(CTNS):c.516dup (p.Tyr173fs) | CTNS | Pathogenic | 17 | 3559833 | 3559834 | G | GC | criteria provided, single submitter | ClinGen:CA658658523 |
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.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.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.682-1G>A | CTNS | Likely pathogenic | 17 | 3561298 | 3561298 | G | A | criteria provided, single submitter | ClinGen:CA16041837 |