"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ACOX1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 259221	NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys)	ACOX1 (R591C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 559096	NM_004035.7(ACOX1):c.1636A>T (p.Ile546Phe)	ACOX1 (I546F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445693	NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile)	ACOX1 (T473I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 259220	NM_004035.7(ACOX1):c.1320T>C (p.Asp440=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency +2 more	GBenign
Select item 559097	NM_004035.7(ACOX1):c.944+22G>A	ACOX1	Single nucleotide variant (intron variant)	not provided	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 259222	NM_004035.7(ACOX1):c.921G>A (p.Arg307=)	ACOX1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 559098	NM_004035.7(ACOX1):c.722A>G (p.Lys241Arg)	ACOX1 (K241R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 325389	NM_004035.7(ACOX1):c.591G>A (p.Gly197=)	ACOX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 707829	NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser)	ACOX1 (N128S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1388415	NM_004035.7(ACOX1):c.233G>A (p.Gly78Asp)	ACOX1 (G40D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 235759	NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu)	ACOX1 (P27L)	Single nucleotide variant (5 prime UTR variant +1 more)	Acyl-CoA oxidase deficiency +1 more	GBenign/Likely benign