Duplication | NM_177438.3(DICER1):c.4458dup (p.Ser1487fs) | DICER1 | Pathogenic/Likely pathogenic | 14 | 95562798 | 95562799 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369616 |
Deletion | NM_177438.3(DICER1):c.4511del (p.Ser1504fs) | DICER1 | Pathogenic | 14 | 95562746 | 95562746 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586415 |
single nucleotide variant | NM_177438.3(DICER1):c.4517G>A (p.Trp1506Ter) | DICER1 | Pathogenic | 14 | 95562740 | 95562740 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586414 |
single nucleotide variant | NM_177438.3(DICER1):c.4533T>A (p.Tyr1511Ter) | DICER1 | Pathogenic | 14 | 95562724 | 95562724 | A | T | criteria provided, single submitter | ClinGen:CA390867918 |
Deletion | NM_177438.3(DICER1):c.4555del (p.Glu1519fs) | DICER1 | Pathogenic | 14 | 95562702 | 95562702 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369615 |
single nucleotide variant | NM_177438.3(DICER1):c.4621A>T (p.Lys1541Ter) | DICER1 | Pathogenic | 14 | 95562636 | 95562636 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586412 |
Deletion | NM_177438.3(DICER1):c.4626del (p.Gln1542fs) | DICER1 | Pathogenic | 14 | 95562631 | 95562631 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586411 |
Duplication | NM_177438.3(DICER1):c.4633dup (p.Ser1545fs) | DICER1 | Pathogenic/Likely pathogenic | 14 | 95562623 | 95562624 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576128 |
single nucleotide variant | NM_177438.3(DICER1):c.4638C>A (p.Tyr1546Ter) | DICER1 | Pathogenic | 14 | 95562619 | 95562619 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA390867638 |
Duplication | NM_177438.3(DICER1):c.4637dup (p.Tyr1546Ter) | DICER1 | Pathogenic | 14 | 95562619 | 95562620 | G | GT | criteria provided, single submitter | ClinGen:CA645369611 |