Deletion | NM_177438.3(DICER1):c.2988-20_2988del | DICER1 | Pathogenic | 14 | 95572120 | 95572140 | GTCTGTAAGAATTCCAAAACAA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_177438.3(DICER1):c.4050+2T>C | DICER1 | Pathogenic | 14 | 95569681 | 95569681 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_177438.3(DICER1):c.307+1G>C | DICER1 | Likely pathogenic | 14 | 95598851 | 95598851 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_177438.3(DICER1):c.5095+1G>A | DICER1 | Likely pathogenic | 14 | 95562161 | 95562161 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000014.9:g.(?_95090488)_(95133468_?)del | DICER1 | Pathogenic | 14 | 95556825 | 95599805 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_177438.3(DICER1):c.5365-1G>A | DICER1 | Pathogenic/Likely pathogenic | 14 | 95557703 | 95557703 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_177438.3(DICER1):c.238G>T (p.Glu80Ter) | DICER1 | Likely pathogenic | 14 | 95598921 | 95598921 | C | A | reviewed by expert panel | - |
Deletion | NM_177438.3(DICER1):c.1280_1283del (p.Lys427fs) | DICER1 | Pathogenic | 14 | 95590626 | 95590629 | CTCTT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_177438.3(DICER1):c.1501C>T (p.Gln501Ter) | DICER1 | Pathogenic | 14 | 95583967 | 95583967 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_177438.3(DICER1):c.2018C>G (p.Ser673Ter) | DICER1 | Pathogenic | 14 | 95579451 | 95579451 | G | C | criteria provided, single submitter | - |