Related gene-specific medical variations for Gene (Select 51) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243043	NC_000017.10:g.(?_73956276)_(73975154_?)dup	ACOX1	Duplication	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 3243040	NC_000017.10:g.(?_73951627)_(73952048_?)del	ACOX1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic
Select item 3243039	NC_000017.10:g.(?_73942819)_(73956466_?)del	ACOX1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic
Select item 3243038	NC_000017.10:g.(?_73974595)_(73975154_?)del	ACOX1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic
Select item 3243037	NC_000017.10:g.(?_73942829)_(73975154_?)del	ACOX1	Deletion	Acyl-CoA oxidase deficiency	GPathogenic
Select item 3240962	NM_004035.7(ACOX1):c.1584+1G>C	ACOX1	Single nucleotide variant (splice donor variant)	Mitchell syndrome	GLikely pathogenic
Select item 3240961	NM_004035.7(ACOX1):c.1362T>G (p.Tyr454Ter)	ACOX1 (Y416* +1 more)	Single nucleotide variant (nonsense)	Mitchell syndrome	GLikely pathogenic
Select item 3240957	NM_004035.7(ACOX1):c.908dup (p.Tyr303Ter)	ACOX1 (Y265* +1 more)	Duplication (nonsense)	Mitchell syndrome	GLikely pathogenic
Select item 2680365	NM_004035.7(ACOX1):c.1603del (p.Val534_Val535insTer)	ACOX1	Deletion (nonsense)	Mitchell syndrome	GLikely pathogenic
Select item 2680356	NM_004035.7(ACOX1):c.498_499del (p.Asn166fs)	ACOX1 (N128fs +1 more)	Deletion (frameshift variant)	Mitchell syndrome	GLikely pathogenic
Select item 2680351	NM_004035.7(ACOX1):c.1453G>T (p.Glu485Ter)	ACOX1 (E447* +1 more)	Single nucleotide variant (nonsense)	Mitchell syndrome	GLikely pathogenic
Select item 2680348	NM_004035.7(ACOX1):c.539-2A>G	ACOX1	Single nucleotide variant (splice acceptor variant)	Mitchell syndrome	GLikely pathogenic
Select item 2680345	NM_004035.7(ACOX1):c.795C>A (p.Tyr265Ter)	ACOX1 (Y227* +1 more)	Single nucleotide variant (nonsense)	Mitchell syndrome	GLikely pathogenic
Select item 2680342	NM_004035.7(ACOX1):c.420_421del (p.Glu140fs)	ACOX1 (E102fs +1 more)	Microsatellite (frameshift variant +1 more)	Mitchell syndrome	GLikely pathogenic
Select item 2680338	NM_004035.7(ACOX1):c.846_856dup (p.Val286fs)	ACOX1 (V248fs +1 more)	Duplication (frameshift variant)	Mitchell syndrome	GLikely pathogenic
Select item 2501787	NM_004035.7(ACOX1):c.1728+1G>A	ACOX1	Single nucleotide variant (splice donor variant)	Acyl-CoA oxidase deficiency	GPathogenic
Select item 1322753	NM_004035.7(ACOX1):c.358C>T (p.Gln120Ter)	ACOX1 (Q120* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 991136	NM_004035.7(ACOX1):c.580A>C (p.Ile194Leu)	ACOX1 (I156L +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 991134	NM_004035.7(ACOX1):c.1771C>A (p.Arg591Ser)	ACOX1 (R553S +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 804424	NM_004035.7(ACOX1):c.1311_1312del (p.Ser438fs)	ACOX1 (S400fs +1 more)	Deletion (frameshift variant)	Acyl-CoA oxidase deficiency	GLikely pathogenic
Select item 235416	NM_004035.7(ACOX1):c.532G>A (p.Gly178Ser)	ACOX1 (G178S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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

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Links from Gene

Items: 23