Deletion | NC_000017.11:g.(?_3647434)_(3648941_?)del | CTNS | Pathogenic | 17 | 3550728 | 3552235 | na | na | 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 | - |
single nucleotide variant | NM_004937.3(CTNS):c.62-1G>A | CTNS | Pathogenic | 17 | 3550737 | 3550737 | G | A | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_3647444)_(3658175_?)del | CTNS | Pathogenic | 17 | 3550738 | 3561469 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.140+1G>T | CTNS | Pathogenic | 17 | 3550817 | 3550817 | G | T | criteria provided, single submitter | - |
Deletion | NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) | CTNS | Pathogenic/Likely pathogenic | 17 | 3552198 | 3552218 | ATATTACTATCCTTGAGCTCCC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA342073 |
Deletion | NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del) | CTNS | Likely pathogenic | 17 | 3552199 | 3552219 | TATTACTATCCTTGAGCTCCCC | T | criteria provided, single submitter | ClinGen:CA278477 |
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 |
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 | - |
Indel | NM_004937.3(CTNS):c.225+5_225+6delinsCC | CTNS | Likely pathogenic | 17 | 3552230 | 3552231 | GT | CC | criteria provided, single submitter | ClinGen:CA278476 |