NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe)Likely pathogenic
Euthyroid goiter|DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β
β
β
β2026β Residue 839
NM_177438.3(DICER1):c.873_877del (p.Glu292fs)Likely pathogenic
Euthyroid goiter|DICER1-related tumor predisposition
β
β
β
β2026β Residue 292
NM_177438.3(DICER1):c.2685dup (p.Phe896fs)Likely pathogenic
Euthyroid goiter|DICER1-related tumor predisposition
β
β
β
β2026β Residue 896
NM_177438.3(DICER1):c.2524del (p.Met842fs)Pathogenic
not provided|DICER1-related tumor predisposition
β
β
β
β2026β Residue 842
NM_177438.3(DICER1):c.5425G>C (p.Gly1809Arg)Likely pathogenic
DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β
β
β
β2026β Residue 1809
NM_177438.3(DICER1):c.1509+16A>GLikely pathogenic
not provided|Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome|DICER1-related tumor predisposition
β
β
β
β2025
NM_177438.3(DICER1):c.1908-3C>GLikely pathogenic
DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β
β
β
β2025
NM_177438.3(DICER1):c.1752+213A>GLikely pathogenic
DICER1-related tumor predisposition
β
β
β
β2025
NM_177438.3(DICER1):c.5222ACA[1] (p.Asn1742del)Likely pathogenic
not provided|DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β
β
β
β2025β Residue 1742
NM_177438.3(DICER1):c.5365-4A>GLikely pathogenic
Pleuropulmonary blastoma|DICER1-related tumor predisposition
β
β
β
β2025
NM_177438.3(DICER1):c.734+3A>TLikely pathogenic
DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β
β
β
β2025
NM_177438.3(DICER1):c.1753-9A>GLikely pathogenic
not provided|Hereditary cancer-predisposing syndrome|DICER1-related tumor predisposition
β
β
β
β2025
NM_177438.3(DICER1):c.5135dup (p.Leu1712fs)Likely pathogenic
Euthyroid goiter|DICER1-related tumor predisposition
β
β
β
β2025β Residue 1712
NM_177438.3(DICER1):c.2256+5G>ALikely pathogenic
DICER1-related tumor predisposition
β
β
β
β2025
NM_177438.3(DICER1):c.2523A>G (p.Gln841=)Likely pathogenic
See cases|DICER1-related tumor predisposition
β
β
β
β2025β Residue 841
NM_177438.3(DICER1):c.5527+3A>GLikely pathogenic
Hereditary cancer-predisposing syndrome|Pleuropulmonary blastoma|DICER1-related tumor predisposition
β
β
β
β2025
NM_177438.3(DICER1):c.2256+5G>CLikely pathogenic
DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β
β
β
β2025
NM_177438.3(DICER1):c.2257-7A>GLikely pathogenic
not specified|Hereditary cancer-predisposing syndrome|DICER1-related tumor predisposition|Neoplasm
β
β
β
β2025
NM_177438.3(DICER1):c.1509G>C (p.Glu503Asp)Likely pathogenic
DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β
β
β
β2025β Residue 503
NM_177438.3(DICER1):c.5428G>T (p.Asp1810Tyr)Pathogenic
DICER1-related tumor predisposition|Benign cystic nephroma|Hereditary cancer-predisposing syndrome|Uterine corpus endometrial carcinoma|Thyroid cancer, nonmedullary, 1|Follicular thyroid carcinoma|Embryonal rhabdomyosarcoma|Pleuropulmonary blastoma
β
β
β
β2025β Residue 1810