single nucleotide variant | NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) | CTNS | Pathogenic | 17 | 3558599 | 3558599 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340259,OMIM:606272.0003 |
single nucleotide variant | NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) | CTNS | Pathogenic/Likely pathogenic | 17 | 3558601 | 3558601 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA116861,UniProtKB:O60931#VAR_010678,OMIM:606272.0018 |
Deletion | NM_004937.3(CTNS):c.423del (p.Phe142fs) | CTNS | Likely pathogenic | 17 | 3558607 | 3558607 | TC | T | criteria provided, single submitter | - |
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.429C>A (p.Tyr143Ter) | CTNS | Pathogenic | 17 | 3558614 | 3558614 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.451A>G (p.Arg151Gly) | CTNS | Likely pathogenic | 17 | 3558636 | 3558636 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) | CTNS | Pathogenic/Likely pathogenic | 17 | 3559792 | 3559792 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA342075,UniProtKB:O60931#VAR_010680 |
single nucleotide variant | NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) | CTNS | Likely pathogenic | 17 | 3559825 | 3559825 | G | A | criteria provided, single submitter | ClinGen:CA278065,UniProtKB:O60931#VAR_010286,OMIM:606272.0006 |
Duplication | NM_004937.3(CTNS):c.516dup (p.Tyr173fs) | CTNS | Pathogenic | 17 | 3559833 | 3559834 | G | GC | criteria provided, single submitter | ClinGen:CA658658523 |
Deletion | NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer) | CTNS | Pathogenic | 17 | 3559837 | 3559838 | TAC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA8291763 |