ACOX1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 831

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 325292	NM_004035.7(ACOX1):c.*5164A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 325293	NM_004035.7(ACOX1):c.*5134A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 325294	NM_004035.7(ACOX1):c.*5124A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 325295	NM_004035.7(ACOX1):c.*5117A>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325296	NM_004035.7(ACOX1):c.*5092A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325297	NM_004035.7(ACOX1):c.*5037T>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889402	NM_004035.7(ACOX1):c.*5028T>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325298	NM_004035.7(ACOX1):c.*5000G>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325299	NM_004035.7(ACOX1):c.*4876C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325300	NM_004035.7(ACOX1):c.*4829AT[1]	ACOX1	Microsatellite (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889403	NM_004035.7(ACOX1):c.*4820T>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889404	NM_004035.7(ACOX1):c.*4806A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890086	NM_004035.7(ACOX1):c.*4766G>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325301	NM_004035.7(ACOX1):c.*4590G>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890087	NM_004035.7(ACOX1):c.*4585C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 325302	NM_004035.7(ACOX1):c.*4579C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325303	NM_004035.7(ACOX1):c.*4551C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 325304	NM_004035.7(ACOX1):c.*4516G>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325305	NM_004035.7(ACOX1):c.*4490A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 890088	NM_004035.7(ACOX1):c.*4489C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890667	NM_004035.7(ACOX1):c.*4484A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325306	NM_004035.7(ACOX1):c.*4472dup	ACOX1	Duplication (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 325307	NM_004035.7(ACOX1):c.*4444G>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 325308	NM_004035.7(ACOX1):c.*4440C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890668	NM_004035.7(ACOX1):c.*4387G>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325309	NM_004035.7(ACOX1):c.*4346G>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325310	NM_004035.7(ACOX1):c.4317_4318dup	ACOX1	Duplication (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325313	NM_004035.7(ACOX1):c.*4296C>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 325312	NM_004035.7(ACOX1):c.4295_4296del	ACOX1	Deletion (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325311	NM_004035.7(ACOX1):c.*4296del	ACOX1	Deletion (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325314	NM_004035.7(ACOX1):c.*4259C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325315	NM_004035.7(ACOX1):c.*4250T>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 325316	NM_004035.7(ACOX1):c.*4039G>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325317	NM_004035.7(ACOX1):c.*4021C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325318	NM_004035.7(ACOX1):c.*3988A>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 891907	NM_004035.7(ACOX1):c.*3944G>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325319	NM_004035.7(ACOX1):c.*3943C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 891908	NM_004035.7(ACOX1):c.*3915C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325320	NM_004035.7(ACOX1):c.*3872G>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 891909	NM_004035.7(ACOX1):c.*3779A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 891910	NM_004035.7(ACOX1):c.*3665C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889458	NM_004035.7(ACOX1):c.*3628C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325321	NM_004035.7(ACOX1):c.*3621C>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889459	NM_004035.7(ACOX1):c.*3576T>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889460	NM_004035.7(ACOX1):c.*3551G>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325322	NM_004035.7(ACOX1):c.*3533del	ACOX1	Deletion (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325324	NM_004035.7(ACOX1):c.3529_3531dup	ACOX1	Duplication (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325323	NM_004035.7(ACOX1):c.*3531dup	ACOX1	Duplication (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889461	NM_004035.7(ACOX1):c.*3421T>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325325	NM_004035.7(ACOX1):c.*3377dup	ACOX1	Duplication (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325326	NM_004035.7(ACOX1):c.*3345C>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889462	NM_004035.7(ACOX1):c.*3228T>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 889463	NM_004035.7(ACOX1):c.*3207T>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890141	NM_004035.7(ACOX1):c.*3105C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890142	NM_004035.7(ACOX1):c.*3060T>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890143	NM_004035.7(ACOX1):c.*2977C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 325327	NM_004035.7(ACOX1):c.*2969A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890144	NM_004035.7(ACOX1):c.*2926T>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890145	NM_004035.7(ACOX1):c.*2887C>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325328	NM_004035.7(ACOX1):c.*2875C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890146	NM_004035.7(ACOX1):c.*2843A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325329	NM_004035.7(ACOX1):c.*2771A>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 890721	NM_004035.7(ACOX1):c.*2746C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325330	NM_004035.7(ACOX1):c.*2737C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325331	NM_004035.7(ACOX1):c.*2736G>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890722	NM_004035.7(ACOX1):c.*2699C>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890723	NM_004035.7(ACOX1):c.*2688C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325332	NM_004035.7(ACOX1):c.*2644G>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325333	NM_004035.7(ACOX1):c.*2643C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325334	NM_004035.7(ACOX1):c.*2625T>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 891960	NM_004035.7(ACOX1):c.*2584C>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 891961	NM_004035.7(ACOX1):c.*2575T>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 891962	NM_004035.7(ACOX1):c.*2559G>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 891963	NM_004035.7(ACOX1):c.*2451A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 891964	NM_004035.7(ACOX1):c.*2267A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325335	NM_004035.7(ACOX1):c.*2239A>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325336	NM_004035.7(ACOX1):c.*2235G>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325337	NM_004035.7(ACOX1):c.*2212del	ACOX1	Deletion (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 891965	NM_004035.7(ACOX1):c.*2021C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889529	NM_004035.7(ACOX1):c.*2021C>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889530	NM_004035.7(ACOX1):c.*1985C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325338	NM_004035.7(ACOX1):c.*1977C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GBenign
Select item 325339	NM_004035.7(ACOX1):c.*1938C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325340	NM_004035.7(ACOX1):c.*1853T>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325341	NM_004035.7(ACOX1):c.*1813C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GLikely benign
Select item 325342	NM_004035.7(ACOX1):c.*1809A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325343	NM_004035.7(ACOX1):c.*1782dup	ACOX1	Duplication (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 889531	NM_004035.7(ACOX1):c.*1756G>A	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890190	NM_004035.7(ACOX1):c.*1743G>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890191	NM_004035.7(ACOX1):c.*1738A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890192	NM_004035.7(ACOX1):c.*1678C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890193	NM_004035.7(ACOX1):c.*1458A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325344	NM_004035.7(ACOX1):c.*1434C>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325345	NM_004035.7(ACOX1):c.*1431A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 325346	NM_004035.7(ACOX1):c.*1380T>C	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890194	NM_004035.7(ACOX1):c.*1276A>G	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 890195	NM_004035.7(ACOX1):c.*1172A>T	ACOX1	Single nucleotide variant (3 prime UTR variant)	Acyl-CoA oxidase deficiency	GUncertain significance

<< First< Prev

Page of 9