single nucleotide variant | NM_177438.3(DICER1):c.904-1G>C | DICER1 | Pathogenic/Likely pathogenic | 14 | 95591006 | 95591006 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_177438.3(DICER1):c.1376+1G>A | DICER1 | Pathogenic/Likely pathogenic | 14 | 95590532 | 95590532 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_177438.3(DICER1):c.5096-12G>A | DICER1 | Likely pathogenic | 14 | 95560505 | 95560505 | C | T | reviewed by expert panel | - |
single nucleotide variant | NM_177438.3(DICER1):c.1847T>A (p.Leu616Ter) | DICER1 | Pathogenic | 14 | 95582064 | 95582064 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_177438.3(DICER1):c.3688C>T (p.Gln1230Ter) | DICER1 | Pathogenic | 14 | 95570045 | 95570045 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_177438.3(DICER1):c.4762del (p.Gly1587_Leu1588insTer) | DICER1 | Pathogenic | 14 | 95562495 | 95562495 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_177438.3(DICER1):c.2987+1G>A | DICER1 | Pathogenic/Likely pathogenic | 14 | 95572377 | 95572377 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA390878746 |
single nucleotide variant | NM_177438.3(DICER1):c.947G>A (p.Trp316Ter) | DICER1 | Pathogenic | 14 | 95590962 | 95590962 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA390887315 |
Duplication | NM_177438.3(DICER1):c.2370_2373dup (p.Leu792fs) | DICER1 | Pathogenic | 14 | 95574723 | 95574724 | G | GCTTC | criteria provided, single submitter | ClinGen:CA658798255 |
Duplication | NM_177438.3(DICER1):c.757dup (p.Ile253fs) | DICER1 | Pathogenic | 14 | 95593062 | 95593063 | A | AT | criteria provided, single submitter | ClinGen:CA658798260 |