"Ambry Genetics"[submitter] AND "ACOX1"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2495562	NM_004035.7(ACOX1):c.1909A>G (p.Lys637Glu)	ACOX1 (K599E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537213	NM_004035.7(ACOX1):c.1838A>G (p.Gln613Arg)	ACOX1 (Q575R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544182	NM_004035.7(ACOX1):c.1807G>T (p.Ala603Ser)	ACOX1 (A565S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270637	NM_004035.7(ACOX1):c.1798C>T (p.Arg600Cys)	ACOX1 (R562C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 547859	NM_004035.7(ACOX1):c.1772G>A (p.Arg591His)	ACOX1 (R591H +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +1 more	GUncertain significance
Select item 2482589	NM_004035.7(ACOX1):c.1757C>T (p.Thr586Ile)	ACOX1 (T586I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2194729	NM_004035.7(ACOX1):c.1712C>T (p.Ala571Val)	ACOX1 (A533V +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +1 more	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 1380775	NM_004035.7(ACOX1):c.1668G>C (p.Arg556Ser)	ACOX1 (R518S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2080954	NM_004035.7(ACOX1):c.1532G>T (p.Ser511Ile)	ACOX1 (S473I +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +1 more	GUncertain significance
Select item 1341811	NM_004035.7(ACOX1):c.1504C>G (p.Leu502Val)	ACOX1 (L464V +1 more)	Single nucleotide variant (missense variant)	Mitchell syndrome +1 more	GUncertain significance
Select item 2201110	NM_004035.7(ACOX1):c.1495G>T (p.Ala499Ser)	ACOX1 (A461S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 890814	NM_004035.7(ACOX1):c.1468C>T (p.Arg490Cys)	ACOX1 (R490C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 445693	NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile)	ACOX1 (T473I +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +2 more	GUncertain significance
Select item 2195939	NM_004035.7(ACOX1):c.1384C>T (p.Arg462Cys)	ACOX1 (R424C +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +1 more	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 2068638	NM_004035.7(ACOX1):c.1177C>T (p.Arg393Trp)	ACOX1 (R355W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1720736	NM_004035.7(ACOX1):c.1037C>T (p.Ala346Val)	ACOX1 (A308V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 888589	NM_004035.7(ACOX1):c.737G>A (p.Arg246His)	ACOX1 (R246H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 559098	NM_004035.7(ACOX1):c.722A>G (p.Lys241Arg)	ACOX1 (K241R +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +3 more	GUncertain significance
Select item 584427	NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)	ACOX1 (N237S +1 more)	Single nucleotide variant (missense variant)	ACOX1-related disorders +5 more	GPathogenic/Likely pathogenic
Select item 1037995	NM_004035.7(ACOX1):c.703A>G (p.Ile235Val)	ACOX1 (I197V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 325386	NM_004035.7(ACOX1):c.667G>A (p.Val223Ile)	ACOX1 (V223I +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 325387	NM_004035.7(ACOX1):c.659-4G>A	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2194540	NM_004035.7(ACOX1):c.628C>T (p.Arg210Cys)	ACOX1 (R210C +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +1 more	GUncertain significance
Select item 2057115	NM_004035.7(ACOX1):c.619G>A (p.Val207Ile)	ACOX1 (V207I +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +1 more	GUncertain significance
Select item 2198244	NM_004035.7(ACOX1):c.616A>G (p.Ile206Val)	ACOX1 (I206V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 788253	NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys)	ACOX1 (Q154K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2556000	NM_004035.7(ACOX1):c.365G>T (p.Arg122Leu)	ACOX1 (R122L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2078714	NM_004035.7(ACOX1):c.364C>T (p.Arg122Cys)	ACOX1 (R84C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2068871	NM_004035.7(ACOX1):c.281G>A (p.Arg94Gln)	ACOX1 (R94Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2230018	NM_004035.7(ACOX1):c.94C>G (p.Arg32Gly)	ACOX1 (R32G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 34