C5394554[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184697	NM_004035.7(ACOX1):c.1936-100C>T	ACOX1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184698	NM_004035.7(ACOX1):c.1729-31T>G	ACOX1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184699	NM_004035.7(ACOX1):c.1729-58A>C	ACOX1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 259223	NM_004035.7(ACOX1):c.936C>G (p.Ile312Met)	ACOX1 (I312M +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +3 more	GBenign
Select item 1184700	NM_004035.7(ACOX1):c.658+45A>G	ACOX1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184701	NM_004035.7(ACOX1):c.269+4780G>A	ACOX1 (G101S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1195915	NM_004035.7(ACOX1):c.34G>C (p.Ala12Pro)	ACOX1 (A12P)	Single nucleotide variant (5 prime UTR variant +1 more)	Acyl-CoA oxidase deficiency +1 more	GUncertain significance

ClinVar