"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ABCC11" - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 768777	NM_001370497.1(ABCC11):c.3984C>T (p.Thr1328=)	ABCC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729030	NM_001370497.1(ABCC11):c.3778-5C>T	ABCC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 709792	NM_001370497.1(ABCC11):c.3193G>A (p.Val1065Met)	ABCC11 (V1065M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 782017	NM_001370497.1(ABCC11):c.2908A>G (p.Met970Val)	ABCC11 (M972V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708119	NM_001370497.1(ABCC11):c.2437G>A (p.Val813Met)	ABCC11 (V815M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787444	NM_001370497.1(ABCC11):c.2409C>T (p.Tyr803=)	ABCC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713604	NM_001370497.1(ABCC11):c.1888C>T (p.Arg630Trp)	ABCC11 (R630W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 779014	NM_001370497.1(ABCC11):c.1657C>T (p.Leu553=)	ABCC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779015	NM_001370497.1(ABCC11):c.1471G>A (p.Val491Ile)	ABCC11 (V491I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790704	NM_001370497.1(ABCC11):c.1242G>A (p.Ala414=)	ABCC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710085	NM_001370497.1(ABCC11):c.232C>T (p.Pro78Ser)	ABCC11 (P78S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710086	NM_001370497.1(ABCC11):c.24G>T (p.Trp8Cys)	ABCC11 (W8C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2422825	NC_000016.9:g.(?_46694384)_(48258199_?)dup	ABCC11, ABCC12 +9 more	Duplication	Glycogen storage disease IXb	GUncertain significance