Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_004937.3(CTNS):c.544T>C (p.Trp182Arg) | CTNS | Likely pathogenic | 17 | 3559863 | 3559863 | T | C | criteria provided, single submitter | ClinGen:CA8291771,UniProtKB:O60931#VAR_010681 |
Deletion | NM_004937.3(CTNS):c.323del (p.Gln108fs) | CTNS | Likely pathogenic | 17 | 3558389 | 3558389 | CA | C | criteria provided, single submitter | ClinGen:CA10586235 |
Deletion | NM_004937.3(CTNS):c.809_811del (p.Ser270del) | CTNS | Likely pathogenic | 17 | 3561424 | 3561426 | TCTC | T | criteria provided, single submitter | ClinGen:CA278481 |
Duplication | NM_004937.3(CTNS):c.292dup (p.Thr98fs) | CTNS | Likely pathogenic | 17 | 3558357 | 3558358 | T | TA | criteria provided, single submitter | ClinGen:CA278469 |
Indel | NM_004937.3(CTNS):c.225+5_225+6delinsCC | CTNS | Likely pathogenic | 17 | 3552230 | 3552231 | GT | CC | criteria provided, single submitter | ClinGen:CA278476 |
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 |
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 |