"GeneDx"[submitter] AND "ACOX1"[gene] - ClinVar

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

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 1190312	NM_004035.7(ACOX1):c.1936-91dup	ACOX1	Duplication (intron variant)	not provided	GLikely benign
Select item 1196972	NM_004035.7(ACOX1):c.1936-87A>C	ACOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184697	NM_004035.7(ACOX1):c.1936-100C>T	ACOX1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1187786	NM_004035.7(ACOX1):c.1936-192C>T	ACOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194276	NM_004035.7(ACOX1):c.1936-195A>C	ACOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214037	NM_004035.7(ACOX1):c.1936-287G>T	ACOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184698	NM_004035.7(ACOX1):c.1729-31T>G	ACOX1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184699	NM_004035.7(ACOX1):c.1729-58A>C	ACOX1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1274764	NM_004035.7(ACOX1):c.1728+312C>T	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268261	NM_004035.7(ACOX1):c.1728+61T>C	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1350978	NM_004035.7(ACOX1):c.1715G>A (p.Gly572Glu)	ACOX1 (G534E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1712068	NM_004035.7(ACOX1):c.1711G>T (p.Ala571Ser)	ACOX1 (A533S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1288163	NM_004035.7(ACOX1):c.1584+47C>T	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2874571	NM_004035.7(ACOX1):c.1502dup (p.Asn501fs)	ACOX1 (N501fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1273312	NM_004035.7(ACOX1):c.1478+54A>G	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712138	NM_004035.7(ACOX1):c.1468C>G (p.Arg490Gly)	ACOX1 (R452G +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +1 more	GUncertain significance
Select item 259220	NM_004035.7(ACOX1):c.1320T>C (p.Asp440=)	ACOX1	Single nucleotide variant (synonymous variant)	Acyl-CoA oxidase deficiency +2 more	GBenign
Select item 1291601	NM_004035.7(ACOX1):c.1298+252A>C	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223893	NM_004035.7(ACOX1):c.1298+213A>G	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268558	NM_004035.7(ACOX1):c.1107+44G>A	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443421	NM_004035.7(ACOX1):c.1078G>A (p.Gly360Ser)	ACOX1 (G322S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1212193	NM_004035.7(ACOX1):c.944+304C>T	ACOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559097	NM_004035.7(ACOX1):c.944+22G>A	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259223	NM_004035.7(ACOX1):c.936C>G (p.Ile312Met)	ACOX1 (I312M +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +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 1288431	NM_004035.7(ACOX1):c.775-217C>T	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236598	NM_004035.7(ACOX1):c.774+139A>G	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559098	NM_004035.7(ACOX1):c.722A>G (p.Lys241Arg)	ACOX1 (K241R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 +4 more	GPathogenic/Likely pathogenic
Select item 1037995	NM_004035.7(ACOX1):c.703A>G (p.Ile235Val)	ACOX1 (I197V +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +2 more	GUncertain significance
Select item 1184700	NM_004035.7(ACOX1):c.658+45A>G	ACOX1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 325389	NM_004035.7(ACOX1):c.591G>A (p.Gly197=)	ACOX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1239685	NM_004035.7(ACOX1):c.539-222C>T	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260639	NM_004035.7(ACOX1):c.538+218G>A	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270858	NM_004035.7(ACOX1):c.538+136A>G	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187019	NM_004035.7(ACOX1):c.538+71C>T	ACOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311347	NM_004035.7(ACOX1):c.536G>A (p.Gly179Glu)	ACOX1 (G141E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 325391	NM_004035.7(ACOX1):c.458C>T (p.Thr153Ile)	ACOX1 (T153I +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +3 more	GUncertain significance
Select item 1502	NM_004035.7(ACOX1):c.442C>T (p.Arg148Ter)	ACOX1 (R148* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1294036	NM_004035.7(ACOX1):c.431-210T>C	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207759	NM_004035.7(ACOX1):c.430+181A>G	ACOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296450	NM_004035.7(ACOX1):c.270-281G>T	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340929	NM_004035.7(ACOX1):c.269+4911T>A	ACOX1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1184701	NM_004035.7(ACOX1):c.269+4780G>A	ACOX1 (G101S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1262221	NM_004035.7(ACOX1):c.269+4662T>C	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190585	NM_004035.7(ACOX1):c.269+4539G>A	ACOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205146	NM_004035.7(ACOX1):c.269+4517C>T	ACOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221559	NM_004035.7(ACOX1):c.269+4484G>A	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250549	NM_004035.7(ACOX1):c.269+228T>C	ACOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312413	NM_004035.7(ACOX1):c.199A>C (p.Ser67Arg)	ACOX1 (S29R +1 more)	Single nucleotide variant (missense variant)	Acyl-CoA oxidase deficiency +1 more	GUncertain significance
Select item 2580505	NM_004035.7(ACOX1):c.130C>G (p.Pro44Ala)	ACOX1 (P44A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1165738	NM_004035.7(ACOX1):c.110-20G>T	ACOX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1222498	NM_004035.7(ACOX1):c.110-33_110-30del	ACOX1	Microsatellite (intron variant)	not provided	GBenign
Select item 1237588	NM_004035.7(ACOX1):c.110-112A>G	ACOX1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1249780	NM_004035.7(ACOX1):c.109+100A>G	ACOX1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1207131	NM_004035.7(ACOX1):c.-74dup	ACOX1	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 325396	NM_004035.6(ACOX1):c.-317G>A	ACOX1, TEN1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1302803	NC_000017.11:g.75979728C>T	ACOX1, LOC130061700 +2 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253996	GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3	SRP68, TRIM65 +12 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60