single nucleotide variant | NM_177438.3(DICER1):c.3273C>G (p.Tyr1091Ter) | DICER1 | Pathogenic | 14 | 95570460 | 95570460 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586433 |
Duplication | NM_177438.3(DICER1):c.3175dup (p.Tyr1059fs) | DICER1 | Pathogenic | 14 | 95571501 | 95571502 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586434 |
Indel | NM_177438.3(DICER1):c.3135_3137delinsTGAACTCATG (p.Ser1046fs) | DICER1 | Pathogenic | 14 | 95571540 | 95571542 | GAT | CATGAGTTCA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586435 |
Deletion | NM_177438.3(DICER1):c.2888_2889del (p.Pro963fs) | DICER1 | Pathogenic | 14 | 95572476 | 95572477 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586436 |
Indel | NM_177438.3(DICER1):c.2867_2869delinsAA (p.Pro956fs) | DICER1 | Pathogenic | 14 | 95572496 | 95572498 | GTG | TT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586437 |
Deletion | NM_177438.3(DICER1):c.2863del (p.Thr955fs) | DICER1 | Pathogenic | 14 | 95572502 | 95572502 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586438 |
single nucleotide variant | NM_177438.3(DICER1):c.2749G>T (p.Glu917Ter) | DICER1 | Pathogenic | 14 | 95574000 | 95574000 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586439 |
single nucleotide variant | NM_177438.3(DICER1):c.2650+1G>T | DICER1 | Pathogenic | 14 | 95574216 | 95574216 | C | A | reviewed by expert panel | ClinGen:CA10586440 |
Duplication | NM_177438.3(DICER1):c.2392dup (p.Thr798fs) | DICER1 | Pathogenic | 14 | 95574704 | 95574705 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586441,OMIM:606241.0004 |
single nucleotide variant | NM_177438.3(DICER1):c.2247C>A (p.Tyr749Ter) | DICER1 | Pathogenic | 14 | 95577663 | 95577663 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586442 |