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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 737321	NM_000665.5(ACHE):c.1434C>T (p.His478=)	ACHE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718317	NM_000665.5(ACHE):c.1323C>T (p.Pro441=)	ACHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 741675	NM_000665.5(ACHE):c.1044C>T (p.Asn348=)	ACHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 768188	NM_000665.5(ACHE):c.1032G>A (p.Glu344=)	ACHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 748832	NM_000665.5(ACHE):c.846G>C (p.Leu282=)	ACHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 733662	NM_000665.5(ACHE):c.807G>A (p.Thr269=)	ACHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780701	NM_000665.5(ACHE):c.403C>G (p.Pro135Ala)	ACHE (P135A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 726502	NM_000665.5(ACHE):c.266G>A (p.Gly89Glu)	ACHE (G156E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 785228	NM_000665.5(ACHE):c.101G>A (p.Arg34Gln)	ACHE (R100Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance