single nucleotide variant | NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter) | DICER1 | Pathogenic/Likely pathogenic | 14 | 95560486 | 95560486 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576126 |
single nucleotide variant | NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter) | DICER1 | Pathogenic | 14 | 95562503 | 95562503 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576127 |
Duplication | NM_177438.3(DICER1):c.4633dup (p.Ser1545fs) | DICER1 | Pathogenic/Likely pathogenic | 14 | 95562623 | 95562624 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576128 |
Deletion | NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs) | DICER1 | Pathogenic | 14 | 95562847 | 95562850 | GAGAA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576129 |
single nucleotide variant | NM_177438.3(DICER1):c.4050+1G>A | DICER1 | Pathogenic/Likely pathogenic | 14 | 95569682 | 95569682 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576130 |
single nucleotide variant | NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter) | DICER1 | Pathogenic | 14 | 95583970 | 95583970 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576131 |
Deletion | NM_177438.3(DICER1):c.5315_5316del (p.Phe1772fs) | DICER1 | Pathogenic | 14 | 95560273 | 95560274 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10583185 |
Duplication | NM_177438.3(DICER1):c.4004dup (p.Tyr1335Ter) | DICER1 | Pathogenic | 14 | 95569728 | 95569729 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10583199 |
single nucleotide variant | NM_177438.3(DICER1):c.5465A>T (p.Asp1822Val) | DICER1 | Likely pathogenic | 14 | 95557602 | 95557602 | T | A | reviewed by expert panel | ClinGen:CA10586400 |
Deletion | NM_177438.3(DICER1):c.5394del (p.Glu1799fs) | DICER1 | Pathogenic | 14 | 95557673 | 95557673 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586401 |