"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DUOXA2" - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584325	NC_000015.9:g.(?_45152372)_(45670671_?)dup	LOC130056982, LOC121847946 +26 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 790694	NM_207581.4(DUOXA2):c.51C>T (p.Ala17=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 974896	NM_207581.4(DUOXA2):c.95dup (p.Leu32fs)	DUOXA2 (L32fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 744450	NM_207581.4(DUOXA2):c.118C>T (p.Leu40Phe)	DUOXA2 (L40F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 265105	NM_207581.4(DUOXA2):c.205+2T>C	DUOXA2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 744682	NM_207581.4(DUOXA2):c.303G>A (p.Leu101=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 761091	NM_207581.4(DUOXA2):c.420G>A (p.Ala140=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 372358	NM_207581.4(DUOXA2):c.463C>G (p.Leu155Val)	DUOXA2 (L155V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 791194	NM_207581.4(DUOXA2):c.519C>T (p.Tyr173=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 764305	NM_207581.4(DUOXA2):c.554+7G>T	DUOXA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 755737	NM_207581.4(DUOXA2):c.561G>T (p.Ala187=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786261	NM_207581.4(DUOXA2):c.639C>A (p.Thr213=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725086	NM_207581.4(DUOXA2):c.719C>A (p.Ser240Tyr)	DUOXA2 (S240Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 746845	NM_207581.4(DUOXA2):c.720C>A (p.Ser240=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759414	NM_207581.4(DUOXA2):c.723G>A (p.Ala241=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725087	NM_207581.4(DUOXA2):c.753G>T (p.Trp251Cys)	DUOXA2 (W251C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 726168	NM_207581.4(DUOXA2):c.769+9C>A	DUOXA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 726997	NM_207581.4(DUOXA2):c.831T>G (p.Ala277=)	DUOXA1, DUOXA2 (E397A +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 720698	NM_207581.4(DUOXA2):c.893_894del (p.Leu298fs)	DUOXA1, DUOXA2 (L298fs)	Deletion (frameshift variant +2 more)	not provided	GBenign
Select item 2424189	NC_000015.9:g.(?_45152372)_(45670651_?)dup	DUOX1, DUOX2 +7 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1007236	NC_000015.9:g.(?_44855319)_(45898712_?)dup	AFG2B, DUOX2 +15 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance

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Items: 22