"ITMI"[submitter] AND "DICER1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133976	NM_177438.3(DICER1):c.5516G>A (p.Arg1839Gln)	DICER1 (R1839Q)	Single nucleotide variant (missense variant +1 more)	DICER1-related tumor predisposition	GUncertain significance FDA Recognized database
Select item 133974	NM_177438.3(DICER1):c.5276A>G (p.Lys1759Arg)	DICER1 (K1759R)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GLikely benign FDA Recognized database
Select item 135513	NM_177438.3(DICER1):c.5095+13C>T	DICER1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 133973	NM_177438.3(DICER1):c.4923T>G (p.Cys1641Trp)	DICER1 (C1641W)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition +7 more	GConflicting classifications of pathogenicity
Select item 133972	NM_177438.3(DICER1):c.4795C>T (p.Arg1599Trp)	DICER1 (R1599W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 133971	NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del)	DICER1 (E1420del)	Microsatellite (inframe_deletion)	Pleuropulmonary blastoma +4 more	GConflicting classifications of pathogenicity
Select item 133970	NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)	DICER1 (A1185T)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GBenign FDA Recognized database
Select item 133969	NM_177438.3(DICER1):c.3334A>G (p.Asn1112Asp)	DICER1 (N1112D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 133967	NM_177438.3(DICER1):c.2614G>A (p.Ala872Thr)	DICER1 (A872T)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GBenign FDA Recognized database
Select item 133966	NM_177438.3(DICER1):c.2557A>G (p.Ile853Val)	DICER1 (I853V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 133965	NM_177438.3(DICER1):c.1825G>T (p.Asp609Tyr)	DICER1 (D609Y)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GBenign FDA Recognized database
Select item 133975	NM_177438.3(DICER1):c.1013A>C (p.Glu338Ala)	DICER1 (E338A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 133968	NM_177438.3(DICER1):c.179C>T (p.Thr60Ile)	DICER1 (T60I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 133964	NM_177438.3(DICER1):c.59C>T (p.Ala20Val)	DICER1 (A20V)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GBenign FDA Recognized database
Select item 133963	NM_177438.3(DICER1):c.56C>T (p.Pro19Leu)	DICER1 (P19L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 133962	NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)	DICER1 (Q7R)	Single nucleotide variant (missense variant)	Pleuropulmonary blastoma +5 more	GConflicting classifications of pathogenicity