C1266144[trait identifier] AND "Foulkes Cancer Genetics LDI, Lady Davi - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 825804	NM_177438.3(DICER1):c.5527+3A>G	DICER1	Single nucleotide variant (intron variant)	DICER1-related tumor predisposition	GLikely pathogenic FDA Recognized database
Select item 30562	NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter)	DICER1 (S1826*)	Single nucleotide variant (nonsense +1 more)	DICER1-related tumor predisposition	GPathogenic
Select item 1713278	NM_177438.3(DICER1):c.5365-4A>G	DICER1	Single nucleotide variant (intron variant)	DICER1-related tumor predisposition +1 more	GConflicting classifications of pathogenicity
Select item 4468	NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg)	DICER1 (L1583R)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GLikely pathogenic FDA Recognized database
Select item 133971	NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del)	DICER1 (E1420del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 221129	NM_177438.3(DICER1):c.4206+7_4206+8dup	DICER1	Duplication (intron variant)	DICER1-related tumor predisposition +2 more	GConflicting classifications of pathogenicity
Select item 412077	NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter)	DICER1 (R1003*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 261920	NM_177438.3(DICER1):c.2997T>G (p.Leu999=)	DICER1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 4470	NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter)	DICER1 (R944*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
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 254309	NM_177438.3(DICER1):c.2392dup (p.Thr798fs)	DICER1 (T798fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 242054	NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter)	DICER1 (R676*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 254301	NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)	DICER1 (R656*)	Single nucleotide variant (nonsense)	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome +6 more	GPathogenic
Select item 4472	NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter)	DICER1 (R544*)	Single nucleotide variant (nonsense)	DICER1-related tumor predisposition +1 more	GPathogenic
Select item 4469	NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter)	DICER1 (E503*)	Single nucleotide variant (nonsense)	DICER1-related tumor predisposition +1 more	GPathogenic
Select item 220838	NM_177438.3(DICER1):c.1377-4T>G	DICER1	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 133962	NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)	DICER1 (Q7R)	Single nucleotide variant (missense variant)	Breast neoplasm +5 more	GConflicting classifications of pathogenicity