Deletion | NM_177438.3(DICER1):c.4923_4926del (p.Gly1640_Cys1641insTer) | DICER1 | Pathogenic | 14 | 95562331 | 95562334 | TCAAA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369608 |
single nucleotide variant | NM_177438.3(DICER1):c.4853C>A (p.Ser1618Ter) | DICER1 | Pathogenic | 14 | 95562404 | 95562404 | G | T | criteria provided, single submitter | ClinGen:CA390866734 |
single nucleotide variant | NM_177438.3(DICER1):c.4812C>A (p.Cys1604Ter) | DICER1 | Pathogenic | 14 | 95562445 | 95562445 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA390867027 |
Deletion | NM_177438.3(DICER1):c.4762del (p.Gly1587_Leu1588insTer) | DICER1 | Pathogenic | 14 | 95562495 | 95562495 | AG | A | criteria provided, single submitter | - |
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 |
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 |
Duplication | NM_177438.3(DICER1):c.4657dup (p.Cys1553fs) | DICER1 | Pathogenic | 14 | 95562599 | 95562600 | C | CA | criteria provided, single submitter | ClinGen:CA645369610 |
single nucleotide variant | NM_177438.3(DICER1):c.4654C>T (p.Gln1552Ter) | DICER1 | Pathogenic/Likely pathogenic | 14 | 95562603 | 95562603 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA390867598 |
single nucleotide variant | NM_177438.3(DICER1):c.4638C>A (p.Tyr1546Ter) | DICER1 | Pathogenic | 14 | 95562619 | 95562619 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA390867638 |
Duplication | NM_177438.3(DICER1):c.4637dup (p.Tyr1546Ter) | DICER1 | Pathogenic | 14 | 95562619 | 95562620 | G | GT | criteria provided, single submitter | ClinGen:CA645369611 |