"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ACOX2"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 738066	NM_003500.4(ACOX2):c.1992T>G (p.Pro664=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919915	NM_003500.4(ACOX2):c.1989C>T (p.Asn663=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184494	NC_000003.12:g.58505286_58505288del	ACOX2	Deletion	not provided	GUncertain significance
Select item 1530365	NM_003500.4(ACOX2):c.1984-9T>C	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988980	NM_003500.4(ACOX2):c.1984-18G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 721583	NM_003500.4(ACOX2):c.1983+7G>C	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2173068	NM_003500.4(ACOX2):c.1923T>C (p.Tyr641=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622187	NM_003500.4(ACOX2):c.1851-4C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023041	NM_003500.4(ACOX2):c.1851-16_1851-15del	ACOX2	Deletion (intron variant)	not provided	GLikely benign
Select item 2960503	NM_003500.4(ACOX2):c.1850+13_1850+14del	ACOX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2983270	NM_003500.4(ACOX2):c.1850G>A (p.Arg617Gln)	ACOX2 (R617Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193745	NM_003500.4(ACOX2):c.1840C>T (p.Arg614Cys)	ACOX2 (R614C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2967800	NM_003500.4(ACOX2):c.1821A>G (p.Thr607=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042166	NM_003500.4(ACOX2):c.1784C>G (p.Ala595Gly)	ACOX2 (A595G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2414037	NM_003500.4(ACOX2):c.1782C>T (p.Asp594=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571094	NM_003500.4(ACOX2):c.1764G>A (p.Ser588=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184286	NM_003500.4(ACOX2):c.1721G>A (p.Arg574His)	ACOX2 (R574H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991457	NM_003500.4(ACOX2):c.1719G>C (p.Lys573Asn)	ACOX2 (K573N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191149	NM_003500.4(ACOX2):c.1700C>T (p.Ala567Val)	ACOX2 (A567V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719021	NM_003500.4(ACOX2):c.1652C>T (p.Thr551Ile)	ACOX2 (T551I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486084	NM_003500.4(ACOX2):c.1633-2A>G	ACOX2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1933495	NM_003500.4(ACOX2):c.1632+16C>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912195	NM_003500.4(ACOX2):c.1632+15G>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2051138	NM_003500.4(ACOX2):c.1632+7G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2067064	NM_003500.4(ACOX2):c.1632+6C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1424168	NM_003500.4(ACOX2):c.1582C>G (p.Gln528Glu)	ACOX2 (Q528E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412804	NM_003500.4(ACOX2):c.1528C>T (p.Leu510Phe)	ACOX2 (L510F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011469	NM_003500.4(ACOX2):c.1526G>T (p.Arg509Met)	ACOX2 (R509M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769606	NM_003500.4(ACOX2):c.1485C>T (p.Cys495=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1486521	NM_003500.4(ACOX2):c.1474G>A (p.Asp492Asn)	ACOX2 (D492N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901479	NM_003500.4(ACOX2):c.1473C>T (p.Ala491=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958739	NM_003500.4(ACOX2):c.1435G>A (p.Ala479Thr)	ACOX2 (A479T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969599	NM_003500.4(ACOX2):c.1422C>T (p.Val474=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844749	NM_003500.4(ACOX2):c.1346+10A>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756751	NM_003500.4(ACOX2):c.1346+8C>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648098	NM_003500.4(ACOX2):c.1346+7T>C	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605349	NM_003500.4(ACOX2):c.1341G>A (p.Val447=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912420	NM_003500.4(ACOX2):c.1329C>T (p.Leu443=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426898	NM_003500.4(ACOX2):c.1327C>T (p.Leu443Phe)	ACOX2 (L443F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093275	NM_003500.4(ACOX2):c.1308C>T (p.Tyr436=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600142	NM_003500.4(ACOX2):c.1302T>C (p.Cys434=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1625636	NM_003500.4(ACOX2):c.1293G>A (p.Ser431=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899641	NM_003500.4(ACOX2):c.1290G>A (p.Leu430=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600136	NM_003500.4(ACOX2):c.1254A>G (p.Ser418=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1431599	NM_003500.4(ACOX2):c.1226G>A (p.Arg409His)	ACOX2 (R409H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905988	NM_003500.4(ACOX2):c.1225C>T (p.Arg409Cys)	ACOX2 (R409C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713753	NM_003500.4(ACOX2):c.1216G>C (p.Glu406Gln)	ACOX2 (E406Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990891	NM_003500.4(ACOX2):c.1209G>A (p.Gln403=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736750	NM_003500.4(ACOX2):c.1186A>G (p.Met396Val)	ACOX2 (M396V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2816459	NM_003500.4(ACOX2):c.1171A>T (p.Thr391Ser)	ACOX2 (T391S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571341	NM_003500.4(ACOX2):c.1164A>G (p.Ala388=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1416538	NM_003500.4(ACOX2):c.1156-3C>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3002642	NM_003500.4(ACOX2):c.1156-11T>C	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609929	NM_003500.4(ACOX2):c.1156-14C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598608	NM_003500.4(ACOX2):c.1156-16del	ACOX2	Deletion (intron variant)	not provided	GBenign
Select item 1899677	NM_003500.4(ACOX2):c.1156-17C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957895	NM_003500.4(ACOX2):c.1155+16G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986289	NM_003500.4(ACOX2):c.1155+14G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983199	NM_003500.4(ACOX2):c.1150C>T (p.Pro384Ser)	ACOX2 (P384S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194390	NM_003500.4(ACOX2):c.1090C>G (p.Leu364Val)	ACOX2 (L364V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1377600	NM_003500.4(ACOX2):c.1087A>T (p.Ser363Cys)	ACOX2 (S363C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169451	NM_003500.4(ACOX2):c.1053G>A (p.Leu351=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022976	NM_003500.4(ACOX2):c.992+20T>C	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668650	NM_003500.4(ACOX2):c.992+13C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2821579	NM_003500.4(ACOX2):c.992+6G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2742117	NM_003500.4(ACOX2):c.979C>T (p.Arg327Trp)	ACOX2 (R327W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507888	NM_003500.4(ACOX2):c.968G>A (p.Arg323His)	ACOX2 (R323H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1430578	NM_003500.4(ACOX2):c.967C>T (p.Arg323Cys)	ACOX2 (R323C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491673	NM_003500.4(ACOX2):c.964A>G (p.Ile322Val)	ACOX2 (I322V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517030	NM_003500.4(ACOX2):c.953G>A (p.Arg318His)	ACOX2 (R318H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1383419	NM_003500.4(ACOX2):c.952C>T (p.Arg318Cys)	ACOX2 (R318C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635983	NM_003500.4(ACOX2):c.946G>A (p.Ala316Thr)	ACOX2 (A316T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1964619	NM_003500.4(ACOX2):c.927G>A (p.Leu309=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901815	NM_003500.4(ACOX2):c.925del (p.Leu309fs)	ACOX2 (L309fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 722318	NM_003500.4(ACOX2):c.867C>T (p.Asn289=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729128	NM_003500.4(ACOX2):c.850G>A (p.Gly284Ser)	ACOX2 (G284S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2729651	NM_003500.4(ACOX2):c.841G>A (p.Val281Ile)	ACOX2 (V281I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899510	NM_003500.4(ACOX2):c.836C>A (p.Thr279Asn)	ACOX2 (T279N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2870100	NM_003500.4(ACOX2):c.820-6A>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899806	NM_003500.4(ACOX2):c.820-17G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667807	NM_003500.4(ACOX2):c.820-18C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2969367	NM_003500.4(ACOX2):c.819+20C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020322	NM_003500.4(ACOX2):c.819+19C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921955	NM_003500.4(ACOX2):c.798C>A (p.Asn266Lys)	ACOX2 (N266K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155347	NM_003500.4(ACOX2):c.790A>G (p.Arg264Gly)	ACOX2 (R264G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361070	NM_003500.4(ACOX2):c.781C>T (p.Arg261Trp)	ACOX2 (R261W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790538	NM_003500.4(ACOX2):c.713T>C (p.Ile238Thr)	ACOX2 (I238T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2783649	NM_003500.4(ACOX2):c.710T>C (p.Ile237Thr)	ACOX2 (I237T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359865	NM_003500.4(ACOX2):c.704-3A>C	ACOX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2888383	NM_003500.4(ACOX2):c.704-8C>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 375691	NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)	ACOX2 (R225W)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 6 +1 more	GConflicting classifications of pathogenicity
Select item 2200544	NM_003500.4(ACOX2):c.643C>T (p.Arg215Trp)	ACOX2 (R215W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1658603	NM_003500.4(ACOX2):c.603T>C (p.His201=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2721426	NM_003500.4(ACOX2):c.590G>A (p.Arg197Gln)	ACOX2 (R197Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1415511	NM_003500.4(ACOX2):c.589C>T (p.Arg197Trp)	ACOX2 (R197W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1601473	NM_003500.4(ACOX2):c.583+19C>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2755210	NM_003500.4(ACOX2):c.517G>A (p.Ala173Thr)	ACOX2 (A173T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067681	NM_003500.4(ACOX2):c.516C>T (p.Asp172=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491264	NM_003500.4(ACOX2):c.488A>C (p.Gln163Pro)	ACOX2 (Q163P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1533124	NM_003500.4(ACOX2):c.475+19G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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