Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_177438.3(DICER1):c.5424_5432dup (p.Met1808_Asp1810dup) | DICER1 | Pathogenic | 14 | 95557634 | 95557635 | A | AATATCCCCC | criteria provided, single submitter | ClinGen:CA645369607 |
single nucleotide variant | NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) | DICER1 | Pathogenic | 14 | 95557626 | 95557626 | G | A | reviewed by expert panel | ClinGen:CA16614268 |
single nucleotide variant | NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly) | DICER1 | Likely pathogenic | 14 | 95557602 | 95557602 | T | C | reviewed by expert panel | ClinGen:CA390864594 |
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 |
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 |
Deletion | NM_177438.3(DICER1):c.5479del (p.Leu1827fs) | DICER1 | Pathogenic | 14 | 95557588 | 95557588 | AG | A | reviewed by expert panel | ClinGen:CA658656432 |
single nucleotide variant | NM_177438.3(DICER1):c.5494C>T (p.Gln1832Ter) | DICER1 | Pathogenic | 14 | 95557573 | 95557573 | G | A | criteria provided, single submitter | ClinGen:CA16614588 |
Deletion | NM_177438.3(DICER1):c.5504_5507del (p.Tyr1835fs) | DICER1 | Pathogenic | 14 | 95557560 | 95557563 | GGGAT | G | 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 | - |