C1849678[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977476	NM_004035.7(ACOX1):c.1396del (p.Gln466fs)	ACOX1 (Q428fs +1 more)	Deletion (frameshift variant)	Acyl-CoA oxidase deficiency	GPathogenic
Select item 1501	NM_004035.7(ACOX1):c.926A>G (p.Gln309Arg)	ACOX1 (Q309R +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GPathogenic
Select item 1499	NM_004035.7(ACOX1):c.832A>G (p.Met278Val)	ACOX1 (M278V +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GPathogenic
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 1500	NM_004035.7(ACOX1):c.532G>T (p.Gly178Cys)	ACOX1 (G178C +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GPathogenic
Select item 1502	NM_004035.7(ACOX1):c.442C>T (p.Arg148Ter)	ACOX1 (R148* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1503	NM_004035.7(ACOX1):c.372_389del (p.Phe124_Asn129del)	ACOX1	Deletion (inframe_deletion +1 more)	Acyl-CoA oxidase deficiency	GPathogenic
Select item 1504	NG_008190.1:g.(22608_?)_(?_41151)del	ACOX1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic
Select item 1498	NG_008190.1:g.(?_18821)_(36526_?)del	ACOX1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic

ClinVar