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.62-1G>A | CTNS | Pathogenic | 17 | 3550737 | 3550737 | G | A | 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.61+1G>A | CTNS | Likely pathogenic | 17 | 3543562 | 3543562 | G | A | criteria provided, single submitter | - |
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 | - |
Deletion | NM_004937.3(CTNS):c.20del (p.Thr7fs) | CTNS | Likely pathogenic | 17 | 3543520 | 3543520 | AC | A | criteria provided, single submitter | - |
Deletion | NM_004937.3(CTNS):c.18_21del (p.Thr7fs) | CTNS | Pathogenic | 17 | 3543516 | 3543519 | GCTGA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA278471,OMIM:606272.0004 |
single nucleotide variant | NM_004937.3(CTNS):c.-19-1G>A | CTNS | Likely pathogenic | 17 | 3543481 | 3543481 | G | A | criteria provided, single submitter | - |