ClinVar for MedGen (Select 1714342) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2680353	NM_004035.7(ACOX1):c.1729-2del	ACOX1	Deletion (splice acceptor variant)	Mitchell syndrome +1 more	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 2680344	NM_004035.7(ACOX1):c.1276_1277del (p.Val426fs)	ACOX1 (V388fs +1 more)	Deletion (frameshift variant)	Acyl-CoA oxidase deficiency +1 more	GPathogenic
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 2138110	NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)	ACOX1	Microsatellite (nonsense)	Mitchell syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1960019	NM_004035.7(ACOX1):c.250G>T (p.Glu84Ter)	ACOX1 (E46* +1 more)	Single nucleotide variant (nonsense)	Mitchell syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1691302	NM_004035.7(ACOX1):c.904C>T (p.Arg302Ter)	ACOX1 (R264* +1 more)	Single nucleotide variant (nonsense)	Acyl-CoA oxidase deficiency +1 more	GPathogenic
Select item 1511590	NM_004035.7(ACOX1):c.945-1G>C	ACOX1	Single nucleotide variant (splice acceptor variant)	Acyl-CoA oxidase deficiency +1 more	GLikely pathogenic
Select item 1459402	NM_004035.7(ACOX1):c.1704_1707del (p.Ser568fs)	ACOX1 (S530fs +1 more)	Microsatellite (frameshift variant)	Acyl-CoA oxidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1341811	NM_004035.7(ACOX1):c.1504C>G (p.Leu502Val)	ACOX1 (L464V +1 more)	Single nucleotide variant (missense variant)	Mitchell syndrome	GUncertain significance
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
Select item 1184701	NM_004035.7(ACOX1):c.269+4780G>A	ACOX1 (G101S)	Single nucleotide variant (missense variant +1 more)	Mitchell syndrome +2 more	GBenign/Likely benign
Select item 1184700	NM_004035.7(ACOX1):c.658+45A>G	ACOX1	Single nucleotide variant (intron variant)	Mitchell syndrome +2 more	GBenign
Select item 1184699	NM_004035.7(ACOX1):c.1729-58A>C	ACOX1	Single nucleotide variant (intron variant)	Mitchell syndrome +2 more	GBenign
Select item 1184698	NM_004035.7(ACOX1):c.1729-31T>G	ACOX1	Single nucleotide variant (intron variant)	Mitchell syndrome +2 more	GBenign
Select item 1184697	NM_004035.7(ACOX1):c.1936-100C>T	ACOX1	Single nucleotide variant (intron variant)	Mitchell syndrome +2 more	GBenign
Select item 1075695	NM_004035.7(ACOX1):c.1312del (p.Ser438fs)	ACOX1 (S400fs +1 more)	Deletion (frameshift variant)	Mitchell syndrome +1 more	GPathogenic/Likely pathogenic
Select item 991135	NM_004035.7(ACOX1):c.1469G>A (p.Arg490His)	ACOX1 (R452H +1 more)	Single nucleotide variant (missense variant)	Mitchell syndrome +1 more	GUncertain significance
Select item 852761	NM_004035.7(ACOX1):c.538+1G>A	ACOX1	Single nucleotide variant (splice donor variant)	Mitchell syndrome +1 more	GPathogenic/Likely pathogenic
Select item 656515	NM_004035.7(ACOX1):c.1717del (p.Asp573fs)	ACOX1 (D573fs +1 more)	Deletion (frameshift variant)	Acyl-CoA oxidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 584427	NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)	ACOX1 (N237S +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +5 more	GPathogenic/Likely pathogenic
Select item 578920	NM_004035.7(ACOX1):c.139del (p.Gln47fs)	ACOX1 (Q47fs +1 more)	Deletion (frameshift variant)	Mitchell syndrome +1 more	GPathogenic/Likely pathogenic
Select item 559098	NM_004035.7(ACOX1):c.722A>G (p.Lys241Arg)	ACOX1 (K241R +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +3 more	GUncertain significance
Select item 325391	NM_004035.7(ACOX1):c.458C>T (p.Thr153Ile)	ACOX1 (T153I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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

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Items: 30