single nucleotide variant | NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu) | DICER1 | Pathogenic/Likely pathogenic | 14 | 95560466 | 95560466 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586406 |
single nucleotide variant | NM_177438.3(DICER1):c.5104C>T (p.Gln1702Ter) | DICER1 | Pathogenic | 14 | 95560485 | 95560485 | G | A | reviewed by expert panel | ClinGen:CA10586407 |
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.5103C>G (p.Tyr1701Ter) | DICER1 | Pathogenic | 14 | 95560486 | 95560486 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA390865441 |
single nucleotide variant | NM_177438.3(DICER1):c.5096-12G>A | DICER1 | Likely pathogenic | 14 | 95560505 | 95560505 | C | T | reviewed by expert panel | - |
single nucleotide variant | NM_177438.3(DICER1):c.5095+1G>C | DICER1 | Pathogenic | 14 | 95562161 | 95562161 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586408 |
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 | - |
single nucleotide variant | NM_177438.3(DICER1):c.5053C>T (p.Gln1685Ter) | DICER1 | Pathogenic | 14 | 95562204 | 95562204 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586409 |
single nucleotide variant | NM_177438.3(DICER1):c.4999G>T (p.Glu1667Ter) | DICER1 | Pathogenic | 14 | 95562258 | 95562258 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA390866134 |
Deletion | NM_177438.3(DICER1):c.4984del (p.Ile1663fs) | DICER1 | Pathogenic | 14 | 95562273 | 95562273 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369628 |