single nucleotide variant | NM_177438.3(DICER1):c.823G>T (p.Glu275Ter) | DICER1 | Pathogenic | 14 | 95592997 | 95592997 | C | A | criteria provided, single submitter | ClinGen:CA390887630 |
Deletion | NM_177438.3(DICER1):c.1137del (p.Lys379fs) | DICER1 | Pathogenic | 14 | 95590772 | 95590772 | GT | G | criteria provided, single submitter | ClinGen:CA658656455 |
Deletion | NM_177438.3(DICER1):c.535del (p.Ala180fs) | DICER1 | Pathogenic | 14 | 95596433 | 95596433 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658270 |
Duplication | NM_177438.3(DICER1):c.1029dup (p.Phe344fs) | DICER1 | Pathogenic/Likely pathogenic | 14 | 95590879 | 95590880 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656456 |
Deletion | NM_177438.3(DICER1):c.5479del (p.Leu1827fs) | DICER1 | Pathogenic | 14 | 95557588 | 95557588 | AG | A | reviewed by expert panel | ClinGen:CA658656432 |
Deletion | NM_177438.3(DICER1):c.1694del (p.Asp565fs) | DICER1 | Pathogenic | 14 | 95582848 | 95582848 | AT | A | criteria provided, single submitter | ClinGen:CA658656449 |
Deletion | NM_177438.3(DICER1):c.1417del (p.Tyr473fs) | DICER1 | Pathogenic | 14 | 95584051 | 95584051 | TA | T | criteria provided, single submitter | ClinGen:CA658656452 |
Duplication | NM_177438.3(DICER1):c.2245_2248dup (p.Pro750fs) | DICER1 | Pathogenic | 14 | 95577661 | 95577662 | G | GGGTA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656439 |
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 |
Deletion | NM_177438.3(DICER1):c.1234del (p.Trp412fs) | DICER1 | Pathogenic | 14 | 95590675 | 95590675 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656454 |