single nucleotide variant | NM_004937.3(CTNS):c.682-1G>T | CTNS | Pathogenic/Likely pathogenic | 17 | 3561298 | 3561298 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) | CTNS | Pathogenic/Likely pathogenic | 17 | 3558607 | 3558607 | C | T | criteria provided, multiple submitters, no conflicts | - |
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 | - |
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.870C>G (p.Tyr290Ter) | CTNS | Pathogenic/Likely pathogenic | 17 | 3563169 | 3563169 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA397692982 |
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 |
single nucleotide variant | NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) | CTNS | Pathogenic/Likely pathogenic | 17 | 3558567 | 3558567 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10590106 |
Duplication | NM_004937.3(CTNS):c.926dup (p.Ser310fs) | CTNS | Pathogenic/Likely pathogenic | 17 | 3563220 | 3563221 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA278465 |
Deletion | NM_004937.3(CTNS):c.561+1del | CTNS | Pathogenic/Likely pathogenic | 17 | 3559880 | 3559880 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278484 |
Deletion | NM_004937.3(CTNS):c.559_561+24del | CTNS | Pathogenic/Likely pathogenic | 17 | 3559867 | 3559893 | GTGCCCTACATCAAGGTACGGCCTTGCC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA342080 |