"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225884	NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter)	DICER1 (Y1701*)	Single nucleotide variant (nonsense)	Pineoblastoma +2 more	GPathogenic/Likely pathogenic
Select item 225883	NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter)	DICER1 (S1585*)	Single nucleotide variant (nonsense)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome +2 more	GPathogenic
Select item 225885	NM_177438.3(DICER1):c.4633dup (p.Ser1545fs)	DICER1 (S1545fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 225888	NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)	DICER1 (S1470fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 225887	NM_177438.3(DICER1):c.4050+1G>A	DICER1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 225886	NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter)	DICER1 (K500*)	Single nucleotide variant (nonsense)	Pineoblastoma +1 more	GPathogenic

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