ClinVar for Gene (Select 51) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262139	NM_004035.7(ACOX1):c.1624A>G (p.Lys542Glu)	ACOX1 (K542E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243044	NC_000017.10:g.(?_73974677)_(73976617_?)del	ACOX1, TEN1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic
Select item 3243043	NC_000017.10:g.(?_73956276)_(73975154_?)dup	ACOX1	Duplication	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 3243041	NC_000017.10:g.(?_73720784)_(73975154_?)dup	FBF1, GALK1 +9 more	Duplication	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 3243040	NC_000017.10:g.(?_73951627)_(73952048_?)del	ACOX1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic
Select item 3243039	NC_000017.10:g.(?_73942819)_(73956466_?)del	ACOX1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic
Select item 3243038	NC_000017.10:g.(?_73974595)_(73975154_?)del	ACOX1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic
Select item 3243037	NC_000017.10:g.(?_73942829)_(73975154_?)del	ACOX1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic
Select item 3240962	NM_004035.7(ACOX1):c.1584+1G>C	ACOX1	Single nucleotide variant (splice donor variant)	Mitchell syndrome	GLikely pathogenic
Select item 3240961	NM_004035.7(ACOX1):c.1362T>G (p.Tyr454Ter)	ACOX1 (Y416* +1 more)	Single nucleotide variant (nonsense)	Mitchell syndrome	GLikely pathogenic
Select item 3240957	NM_004035.7(ACOX1):c.908dup (p.Tyr303Ter)	ACOX1 (Y265* +1 more)	Duplication (nonsense)	Mitchell syndrome	GLikely pathogenic
Select item 3233861	NM_004035.7(ACOX1):c.1584+10_1584+11del	ACOX1	Deletion (intron variant)	not specified	GLikely benign
Select item 3138163	NM_004035.7(ACOX1):c.1753A>G (p.Ile585Val)	ACOX1 (I547V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3138157	NM_004035.7(ACOX1):c.1688C>G (p.Ser563Cys)	ACOX1 (S525C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3138128	NM_004035.7(ACOX1):c.1274C>T (p.Thr425Ile)	ACOX1 (T387I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3138121	NM_004035.7(ACOX1):c.1069G>A (p.Glu357Lys)	ACOX1 (E319K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069019	NM_004035.7(ACOX1):c.109+7G>A	ACOX1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3047678	NM_004035.7(ACOX1):c.269+4737_269+4741del	ACOX1	Microsatellite (intron variant)	ACOX1-related disorder	GLikely benign
Select item 3024026	NM_004035.7(ACOX1):c.945-13C>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 3020737	NM_004035.7(ACOX1):c.658+13C>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 3019464	NM_004035.7(ACOX1):c.1728+19T>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 3017728	NM_004035.7(ACOX1):c.1935+16C>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 3017709	NM_004035.7(ACOX1):c.1233T>C (p.Tyr411=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 3016860	NM_004035.7(ACOX1):c.1287C>T (p.Leu429=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 3013005	NM_004035.7(ACOX1):c.327C>T (p.Pro109=)	ACOX1	Single nucleotide variant (synonymous variant +1 more)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 3013004	NM_004035.7(ACOX1):c.348T>C (p.Thr116=)	ACOX1	Single nucleotide variant (synonymous variant +1 more)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 3007304	NM_004035.7(ACOX1):c.279C>T (p.His93=)	ACOX1	Single nucleotide variant (synonymous variant +1 more)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 3006454	NM_004035.7(ACOX1):c.430+20C>T	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 3000473	NM_004035.7(ACOX1):c.966G>A (p.Leu322=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2999054	NM_004035.7(ACOX1):c.269+20G>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2998293	NM_004035.7(ACOX1):c.1668G>A (p.Arg556=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2997045	NM_004035.7(ACOX1):c.464C>A (p.Thr155Lys)	ACOX1 (T117K +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2988803	NM_004035.7(ACOX1):c.1298+3G>A	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2985039	NM_004035.7(ACOX1):c.495C>T (p.Leu165=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2985022	NM_004035.7(ACOX1):c.205A>G (p.Ile69Val)	ACOX1 (I31V +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2982312	NM_004035.7(ACOX1):c.270-13T>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2981748	NM_004035.7(ACOX1):c.780G>A (p.Lys260=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2980195	NM_004035.7(ACOX1):c.1025A>G (p.Gln342Arg)	ACOX1 (Q304R +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2974922	NM_004035.7(ACOX1):c.918G>T (p.Val306=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2972345	NM_004035.7(ACOX1):c.139C>T (p.Gln47Ter)	ACOX1 (Q47* +1 more)	Single nucleotide variant (nonsense)	Acyl-CoA oxidase deficiency	GPathogenic
Select item 2970192	NM_004035.7(ACOX1):c.1491T>C (p.Ile497=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2970152	NM_004035.7(ACOX1):c.944+18G>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2962586	NM_004035.7(ACOX1):c.1936-16T>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2960235	NM_004035.7(ACOX1):c.168C>T (p.Arg56=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2959611	NM_004035.7(ACOX1):c.1935+14_1935+15del	ACOX1	Microsatellite (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2957119	NM_004035.7(ACOX1):c.1584+18C>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2956247	NM_004035.7(ACOX1):c.25C>G (p.Arg9Gly)	ACOX1 (R9G)	Single nucleotide variant (5 prime UTR variant +1 more)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2955036	NM_004035.7(ACOX1):c.1878G>C (p.Gly626=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2920280	NM_004035.7(ACOX1):c.269+18C>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2917874	NM_004035.7(ACOX1):c.430+11T>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2915587	NM_004035.7(ACOX1):c.109+16_109+17insT	ACOX1	Insertion (5 prime UTR variant +1 more)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2911371	NM_004035.7(ACOX1):c.1936-20_1936-18del	ACOX1	Microsatellite (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2910955	NM_004035.7(ACOX1):c.166C>T (p.Arg56Cys)	ACOX1 (R18C +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2909763	NM_004035.7(ACOX1):c.1935+13T>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2909039	NM_004035.7(ACOX1):c.1479-17A>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2908721	NM_004035.7(ACOX1):c.1584+10A>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2907222	NM_004035.7(ACOX1):c.539-3C>T	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2907172	NM_004035.7(ACOX1):c.1478+14C>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2905951	NM_004035.7(ACOX1):c.1490T>C (p.Ile497Thr)	ACOX1 (I497T +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2902934	NM_004035.7(ACOX1):c.538+19A>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2902719	NM_004035.7(ACOX1):c.539-20T>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2902115	NM_004035.7(ACOX1):c.269+20G>A	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2901599	NM_004035.7(ACOX1):c.431-18T>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2899844	NM_004035.7(ACOX1):c.1107+15T>A	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2899843	NM_004035.7(ACOX1):c.1107+16_1107+18del	ACOX1	Deletion (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2897241	NM_004035.7(ACOX1):c.1478+20C>A	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2894692	NM_004035.7(ACOX1):c.1317T>C (p.Tyr439=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2893388	NM_004035.7(ACOX1):c.1275T>C (p.Thr425=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2893095	NM_004035.7(ACOX1):c.659-12C>T	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2890993	NM_004035.7(ACOX1):c.1935+17T>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2889913	NM_004035.7(ACOX1):c.110-12A>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2888805	NM_004035.7(ACOX1):c.110-10C>A	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2887520	NM_004035.7(ACOX1):c.1060C>T (p.Arg354Trp)	ACOX1 (R354W +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2886778	NM_004035.7(ACOX1):c.1298+17C>T	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2885768	NM_004035.7(ACOX1):c.620T>C (p.Val207Ala)	ACOX1 (V207A +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2884591	NM_004035.7(ACOX1):c.1728+18A>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2882690	NM_004035.7(ACOX1):c.1585-12T>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2876603	NM_004035.7(ACOX1):c.1434C>T (p.Asn478=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2876584	NM_004035.7(ACOX1):c.1530A>G (p.Lys510=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2874571	NM_004035.7(ACOX1):c.1502dup (p.Asn501fs)	ACOX1 (N501fs +1 more)	Duplication (frameshift variant)	Acyl-CoA oxidase deficiency	GPathogenic
Select item 2868805	NM_004035.7(ACOX1):c.431-5C>T	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2865707	NM_004035.7(ACOX1):c.431-13T>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2865360	NM_004035.7(ACOX1):c.269+16A>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2865209	NM_004035.7(ACOX1):c.1936-13C>A	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2864722	NM_004035.7(ACOX1):c.1584+17T>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2861213	NM_004035.7(ACOX1):c.1299-3del	ACOX1	Deletion (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2861155	NM_004035.7(ACOX1):c.1767C>T (p.Asn589=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2860758	NM_004035.7(ACOX1):c.114C>T (p.Asn38=)	ACOX1	Single nucleotide variant (5 prime UTR variant +1 more)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2857393	NM_004035.7(ACOX1):c.1060C>A (p.Arg354=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2854035	NM_004035.7(ACOX1):c.792A>C (p.Thr264=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2853142	NM_004035.7(ACOX1):c.1108-16G>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2853019	NM_004035.7(ACOX1):c.1433A>G (p.Asn478Ser)	ACOX1 (N440S +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2851358	NM_004035.7(ACOX1):c.465G>T (p.Thr155=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2849754	NM_004035.7(ACOX1):c.269+10C>T	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2848493	NM_004035.7(ACOX1):c.292G>C (p.Glu98Gln)	ACOX1 (E98Q +1 more)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2848323	NM_004035.7(ACOX1):c.310T>C (p.Leu104=)	ACOX1	Single nucleotide variant (synonymous variant +1 more)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2846544	NM_004035.7(ACOX1):c.486G>A (p.Glu162=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2845609	NM_004035.7(ACOX1):c.431-15A>G	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 2841818	NM_004035.7(ACOX1):c.1299-1G>T	ACOX1	Single nucleotide variant (splice acceptor variant)	Acyl-CoA oxidase deficiency	GLikely pathogenic
Select item 2840437	NM_004035.7(ACOX1):c.1599T>C (p.Tyr533=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency	GLikely benign

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