single nucleotide variant | NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) | DICER1 | Likely pathogenic | 14 | 95562509 | 95562509 | A | C | reviewed by expert panel | ClinGen:CA212568,UniProtKB:Q9UPY3#VAR_063150,OMIM:606241.0001 |
single nucleotide variant | NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter) | DICER1 | Pathogenic | 14 | 95583961 | 95583961 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA212571,OMIM:606241.0002 |
single nucleotide variant | NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter) | DICER1 | Pathogenic | 14 | 95572535 | 95572535 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA212577,OMIM:606241.0003 |
single nucleotide variant | NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter) | DICER1 | Pathogenic | 14 | 95582912 | 95582912 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA212583,OMIM:606241.0005 |
single nucleotide variant | NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter) | DICER1 | Pathogenic | 14 | 95557590 | 95557590 | G | T | criteria provided, single submitter | OMIM:606241.0006 |
single nucleotide variant | NM_177438.3(DICER1):c.2805-1G>T | DICER1 | Pathogenic | 14 | 95572561 | 95572561 | C | A | criteria provided, single submitter | OMIM:606241.0010 |
single nucleotide variant | NM_177438.3(DICER1):c.2457C>G (p.Tyr819Ter) | DICER1 | Likely pathogenic | 14 | 95574410 | 95574410 | G | C | criteria provided, single submitter | OMIM:606241.0008 |
Indel | NM_177438.3(DICER1):c.3611_3616delinsT (p.Tyr1204fs) | DICER1 | Pathogenic | 14 | 95570117 | 95570122 | TGTAGT | A | criteria provided, single submitter | ClinGen:CA10575607,OMIM:606241.0012 |
single nucleotide variant | NM_177438.3(DICER1):c.559C>T (p.Arg187Ter) | DICER1 | Pathogenic | 14 | 95596409 | 95596409 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA350609 |
single nucleotide variant | NM_177438.3(DICER1):c.489C>G (p.Tyr163Ter) | DICER1 | Pathogenic | 14 | 95596479 | 95596479 | G | C | criteria provided, single submitter | ClinGen:CA349806 |