single nucleotide variant | NM_177438.3(DICER1):c.100C>T (p.Gln34Ter) | DICER1 | Pathogenic | 14 | 95599696 | 95599696 | G | A | criteria provided, single submitter | ClinGen:CA390890474 |
Deletion | NM_177438.3(DICER1):c.4212del (p.Asp1405fs) | DICER1 | Pathogenic | 14 | 95563045 | 95563045 | CT | C | criteria provided, single submitter | ClinGen:CA658798249 |
Indel | NM_177438.3(DICER1):c.2955delinsTT (p.Gln985fs) | DICER1 | Pathogenic | 14 | 95572410 | 95572410 | C | AA | criteria provided, single submitter | ClinGen:CA658798254 |
single nucleotide variant | NM_177438.3(DICER1):c.4999G>T (p.Glu1667Ter) | DICER1 | Pathogenic | 14 | 95562258 | 95562258 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA390866134 |
single nucleotide variant | NM_177438.3(DICER1):c.5103C>G (p.Tyr1701Ter) | DICER1 | Pathogenic | 14 | 95560486 | 95560486 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA390865441 |
Deletion | NM_177438.3(DICER1):c.1726del (p.Thr578fs) | DICER1 | Pathogenic | 14 | 95582816 | 95582816 | AG | A | criteria provided, single submitter | ClinGen:CA658656448 |
Duplication | NM_177438.3(DICER1):c.282_283dup (p.Arg95fs) | DICER1 | Pathogenic | 14 | 95598875 | 95598876 | C | CTT | criteria provided, single submitter | ClinGen:CA658658272 |
Deletion | NM_177438.3(DICER1):c.256del (p.Arg86fs) | DICER1 | Pathogenic | 14 | 95598903 | 95598903 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658273 |
Duplication | NM_177438.3(DICER1):c.459dup (p.Val154fs) | DICER1 | Pathogenic | 14 | 95596508 | 95596509 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658271 |
single nucleotide variant | NM_177438.3(DICER1):c.901C>T (p.Gln301Ter) | DICER1 | Pathogenic | 14 | 95592919 | 95592919 | G | A | criteria provided, single submitter | ClinGen:CA390887420 |