Deletion | NM_177438.3(DICER1):c.948_961del (p.Trp316fs) | DICER1 | Pathogenic | 14 | 95590948 | 95590961 | ACTTTATCTGCACAC | A | criteria provided, single submitter | ClinGen:CA645369626 |
single nucleotide variant | NM_177438.3(DICER1):c.996C>A (p.Tyr332Ter) | DICER1 | Pathogenic | 14 | 95590913 | 95590913 | G | T | criteria provided, single submitter | ClinGen:CA10586463 |
Deletion | NM_177438.3(DICER1):c.1024del (p.Arg342fs) | DICER1 | Pathogenic | 14 | 95590885 | 95590885 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369625 |
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.1137del (p.Lys379fs) | DICER1 | Pathogenic | 14 | 95590772 | 95590772 | GT | G | criteria provided, single submitter | ClinGen:CA658656455 |
single nucleotide variant | NM_177438.3(DICER1):c.1144G>T (p.Glu382Ter) | DICER1 | Pathogenic | 14 | 95590765 | 95590765 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586462 |
single nucleotide variant | NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter) | DICER1 | Pathogenic/Likely pathogenic | 14 | 95590735 | 95590735 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA390886799 |
Indel | NM_177438.3(DICER1):c.1185_1187delinsC (p.Glu396fs) | DICER1 | Pathogenic | 14 | 95590722 | 95590724 | TCA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586461 |
Duplication | NM_177438.3(DICER1):c.1202dup (p.Tyr401Ter) | DICER1 | Pathogenic | 14 | 95590706 | 95590707 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586460 |
Deletion | NM_177438.3(DICER1):c.1234del (p.Trp412fs) | DICER1 | Pathogenic | 14 | 95590675 | 95590675 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656454 |