"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACOX1"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259221	NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys)	ACOX1 (R591C +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +1 more	GBenign
Select item 743716	NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 794374	NM_004035.7(ACOX1):c.1683G>A (p.Leu561=)	ACOX1	Single nucleotide variant (synonymous variant)	ACOX1-related disorder +1 more	GLikely benign
Select item 1577460	NM_004035.7(ACOX1):c.1479-7T>C	ACOX1	Single nucleotide variant (intron variant)	Acyl-CoA oxidase deficiency +1 more	GLikely benign
Select item 325379	NM_004035.7(ACOX1):c.1344G>A (p.Val448=)	ACOX1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259220	NM_004035.7(ACOX1):c.1320T>C (p.Asp440=)	ACOX1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1125634	NM_004035.7(ACOX1):c.1278C>T (p.Val426=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency +1 more	GLikely benign
Select item 259223	NM_004035.7(ACOX1):c.936C>G (p.Ile312Met)	ACOX1 (I312M +1 more)	Single nucleotide variant (missense variant)	Mitchell syndrome +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 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 743000	NM_004035.7(ACOX1):c.465G>A (p.Thr155=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency +1 more	GLikely benign
Select item 2054535	NM_004035.7(ACOX1):c.287G>A (p.Arg96Gln)	ACOX1 (R58Q +1 more)	Single nucleotide variant (missense variant +1 more)	ACOX1-related disorder +1 more	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 730688	NM_004035.7(ACOX1):c.72C>T (p.Asp24=)	ACOX1	Single nucleotide variant (5 prime UTR variant +1 more)	Acyl-CoA oxidase deficiency +1 more	GLikely benign