"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACOX2"[ge - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052899	NM_003500.4(ACOX2):c.*10C>T	ACOX2	Single nucleotide variant (3 prime UTR variant)	ACOX2-related disorder	GLikely benign
Select item 3046987	NM_003500.4(ACOX2):c.1995C>T (p.Ala665=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 3036929	NM_003500.4(ACOX2):c.1932C>T (p.Asn644=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 2173068	NM_003500.4(ACOX2):c.1923T>C (p.Tyr641=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2414037	NM_003500.4(ACOX2):c.1782C>T (p.Asp594=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1571094	NM_003500.4(ACOX2):c.1764G>A (p.Ser588=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder +1 more	GLikely benign
Select item 2191149	NM_003500.4(ACOX2):c.1700C>T (p.Ala567Val)	ACOX2 (A567V)	Single nucleotide variant (missense variant)	ACOX2-related disorder +1 more	GUncertain significance
Select item 3030785	NM_003500.4(ACOX2):c.1647T>C (p.Tyr549=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 3045326	NM_003500.4(ACOX2):c.1633-10_1633-9del	ACOX2	Microsatellite (intron variant)	ACOX2-related disorder	GLikely benign
Select item 2051138	NM_003500.4(ACOX2):c.1632+7G>A	ACOX2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2067064	NM_003500.4(ACOX2):c.1632+6C>T	ACOX2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3041048	NM_003500.4(ACOX2):c.1602G>A (p.Gln534=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 3046995	NM_003500.4(ACOX2):c.1587C>T (p.His529=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 1424168	NM_003500.4(ACOX2):c.1582C>G (p.Gln528Glu)	ACOX2 (Q528E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 769606	NM_003500.4(ACOX2):c.1485C>T (p.Cys495=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder +1 more	GBenign/Likely benign
Select item 2636916	NM_003500.4(ACOX2):c.1456_1457dup (p.Ala487fs)	ACOX2 (A487fs)	Duplication (frameshift variant)	ACOX2-related disorder	GUncertain significance
Select item 3060829	NM_003500.4(ACOX2):c.1425A>G (p.Ala475=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 2969599	NM_003500.4(ACOX2):c.1422C>T (p.Val474=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2912420	NM_003500.4(ACOX2):c.1329C>T (p.Leu443=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1625636	NM_003500.4(ACOX2):c.1293G>A (p.Ser431=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 736750	NM_003500.4(ACOX2):c.1186A>G (p.Met396Val)	ACOX2 (M396V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3057287	NM_003500.4(ACOX2):c.1161C>T (p.His387=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 3046996	NM_003500.4(ACOX2):c.1156-3C>T	ACOX2	Single nucleotide variant (intron variant)	ACOX2-related disorder	GLikely benign
Select item 2169451	NM_003500.4(ACOX2):c.1053G>A (p.Leu351=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2634762	NM_003500.4(ACOX2):c.986G>A (p.Arg329Gln)	ACOX2 (R329Q)	Single nucleotide variant (missense variant)	ACOX2-related disorder	GUncertain significance
Select item 1635983	NM_003500.4(ACOX2):c.946G>A (p.Ala316Thr)	ACOX2 (A316T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 722318	NM_003500.4(ACOX2):c.867C>T (p.Asn289=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 729128	NM_003500.4(ACOX2):c.850G>A (p.Gly284Ser)	ACOX2 (G284S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3032913	NM_003500.4(ACOX2):c.840C>T (p.Tyr280=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 1359865	NM_003500.4(ACOX2):c.704-3A>C	ACOX2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375691	NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)	ACOX2 (R225W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2377259	NM_003500.4(ACOX2):c.632C>T (p.Ser211Leu)	ACOX2 (S211L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2067681	NM_003500.4(ACOX2):c.516C>T (p.Asp172=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3029493	NM_003500.4(ACOX2):c.466T>C (p.Leu156=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 710623	NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)	ACOX2 (T154fs)	Microsatellite (frameshift variant)	ACOX2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2629268	NM_003500.4(ACOX2):c.436C>T (p.Gln146Ter)	ACOX2 (Q146*)	Single nucleotide variant (nonsense)	ACOX2-related disorder	GUncertain significance
Select item 3054777	NM_003500.4(ACOX2):c.432C>T (p.Asn144=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 3032503	NM_003500.4(ACOX2):c.324-3C>T	ACOX2	Single nucleotide variant (intron variant)	ACOX2-related disorder	GLikely benign
Select item 3029644	NM_003500.4(ACOX2):c.279C>T (p.Arg93=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 3029531	NM_003500.4(ACOX2):c.148C>T (p.Arg50Cys)	ACOX2 (R50C)	Single nucleotide variant (missense variant)	ACOX2-related disorder	GUncertain significance
Select item 779872	NM_003500.4(ACOX2):c.103C>T (p.Arg35Trp)	ACOX2 (R35W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 736210	NM_003500.4(ACOX2):c.97G>A (p.Val33Met)	ACOX2 (V33M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3041099	NM_003500.4(ACOX2):c.96C>T (p.Asp32=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign

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Items: 43