single nucleotide variant | NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) | CTNS | Pathogenic | 17 | 3563221 | 3563221 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA8291955,UniProtKB:O60931#VAR_010692 |
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.969C>G (p.Asn323Lys) | CTNS | Pathogenic | 17 | 3563268 | 3563268 | C | G | criteria provided, single submitter | ClinGen:CA253164,UniProtKB:O60931#VAR_010288,OMIM:606272.0016 |
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 |
Duplication | NM_004937.3(CTNS):c.971-1dup | CTNS | Likely pathogenic | 17 | 3563528 | 3563529 | A | AG | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) | CTNS | Pathogenic | 17 | 3563574 | 3563574 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278067,UniProtKB:O60931#VAR_010695,OMIM:606272.0015 |
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 |