ACAD8

acyl-CoA dehydrogenase family member 8

Summary

This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]

Known Variants238 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs112372624	11:134,123,428	A/G	—	likely benign
rs763520594	11:134,123,495	A/G	—	likely pathogenic
rs767041100	11:134,123,496	T/C	—	pathogenic
rs751940610	11:134,123,497	G/C	missense variant	pathogenic
rs777227435	11:134,123,506	C/T	—	likely benign
rs35181923	11:134,123,514	G/C	—	benign
rs2136068044	11:134,123,521	C/T	—	likely benign
rs773403936	11:134,123,526	C/T	—	uncertain significance
rs995801278	11:134,123,530	C/G	—	likely benign
rs1064793430	11:134,123,540	—	—	pathogenic
rs1274417206	11:134,123,558	G/T	—	uncertain significance
rs895526348	11:134,123,573	G/A	—	uncertain significance
rs1010004478	11:134,123,577	A/G	—	likely benign
rs1278727402	11:134,123,579	C/T	—	uncertain significance
rs886048021	11:134,123,593	C/T	—	uncertain significance
rs2497142663	11:134,123,598	T/G	—	uncertain significance
rs1477692239	11:134,123,603	C/T	—	uncertain significance
rs1466466553	11:134,123,622	G/T	—	uncertain significance
rs71486997	11:134,123,736	G/C	—	likely benign
rs112544573	11:134,123,862	C/A	—	benign
rs35141157	11:134,126,268	A/G	—	likely benign
rs372435194	11:134,126,425	T/C	—	likely benign
rs369626260	11:134,126,429	A/G	—	uncertain significance
rs371550147	11:134,126,433	T/C	—	conflicting classifications of pathogenicity
rs559628768	11:134,126,436	C/T	—	uncertain significance
rs2136075017	11:134,126,453	C/A	—	uncertain significance
rs780096296	11:134,126,462	G/A	—	uncertain significance
rs1591505809	11:134,126,465	C/T	—	pathogenic
rs749474432	11:134,126,505	G/A	—	conflicting classifications of pathogenicity
rs374985215	11:134,126,510	A/G	—	conflicting classifications of pathogenicity
rs2497153344	11:134,126,530	G/A	—	likely benign
rs1339547372	11:134,126,537	C/T	—	likely pathogenic
rs199868020	11:134,126,539	G/A	—	conflicting classifications of pathogenicity
rs148089913	11:134,126,548	C/T	—	likely benign
rs1170535682	11:134,126,549	G/A	—	likely benign
rs75459087	11:134,126,567	C/T	—	benign
rs473041	11:134,126,612	T/C	—	benign
rs7123994	11:134,126,751	G/A	—	benign
rs200508056	11:134,126,962	C/T	—	likely benign
rs517424	11:134,126,978	A/G	—	benign
rs767613745	11:134,127,004	T/C	missense variant	uncertain significance
rs377629003	11:134,127,006	C/T	—	conflicting classifications of pathogenicity
rs141333391	11:134,127,007	G/A	—	uncertain significance
rs1591506881	11:134,127,014	A/C	—	likely benign
rs1330918776	11:134,127,021	C/G	—	uncertain significance
rs747139706	11:134,127,030	G/A	—	uncertain significance
rs2136076119	11:134,127,031	G/A	—	uncertain significance
rs886048022	11:134,127,046	A/G	—	uncertain significance
rs770138016	11:134,127,056	G/A	—	likely benign
rs773472208	11:134,127,057	G/A	—	pathogenic
rs371033488	11:134,127,060	G/A	—	conflicting classifications of pathogenicity
rs1433228446	11:134,127,061	G/A	—	uncertain significance
rs773978651	11:134,127,063	T/C	—	uncertain significance
rs948304437	11:134,127,064	C/T	—	uncertain significance
rs143823240	11:134,127,076	G/A	—	uncertain significance
rs763906092	11:134,127,079	T/G	—	uncertain significance
rs2136076309	11:134,127,087	T/C	—	uncertain significance
rs1939586683	11:134,127,097	T/C	—	uncertain significance
rs751633406	11:134,127,108	G/A	missense variant	uncertain significance
rs935057058	11:134,127,111	A/G	—	uncertain significance
rs2497155894	11:134,127,115	G/A	—	uncertain significance
rs768701760	11:134,127,119	C/A	—	pathogenic
rs1211044438	11:134,127,127	C/T	—	uncertain significance
rs1353919966	11:134,127,139	T/A	—	uncertain significance
rs2497156057	11:134,127,143	C/G	—	uncertain significance
rs778171160	11:134,127,146	C/G	—	uncertain significance
rs1335335796	11:134,127,158	G/A	—	uncertain significance
rs201079276	11:134,127,168	G/T	—	likely benign
rs112866184	11:134,127,436	T/A	—	benign
rs7109162	11:134,128,178	G/C	—	benign
rs7125091	11:134,128,194	T/A	—	benign
rs11223738	11:134,128,313	G/T	—	benign
rs938545157	11:134,128,400	A/G	—	likely benign
rs886048023	11:134,128,405	T/A	—	uncertain significance
rs374317179	11:134,128,412	G/A	missense variant	pathogenic
rs778203609	11:134,128,414	G/A	missense variant	pathogenic
rs367857040	11:134,128,428	G/T	—	conflicting classifications of pathogenicity
rs140515698	11:134,128,432	G/C	—	likely benign
rs143408080	11:134,128,436	C/T	—	likely benign
rs371449613	11:134,128,437	G/A	—	conflicting classifications of pathogenicity
rs2136078898	11:134,128,450	A/G	—	uncertain significance
rs1301535598	11:134,128,459	A/G	—	uncertain significance
rs886048024	11:134,128,460	A/G	—	uncertain significance
rs150399643	11:134,128,469	A/G	—	likely benign
rs374584216	11:134,128,471	C/T	—	uncertain significance
rs572820646	11:134,128,472	G/T	—	likely benign
rs2497160309	11:134,128,477	G/A	—	uncertain significance
rs1939688110	11:134,128,481	C/T	—	uncertain significance
rs121908418	11:134,128,483	T/C	missense variant	uncertain significance
rs2497160350	11:134,128,487	G/A	—	uncertain significance
rs201273972	11:134,128,494	G/T	—	conflicting classifications of pathogenicity
rs779385985	11:134,128,501	A/G	missense variant	pathogenic
rs186756646	11:134,128,509	A/G	—	uncertain significance
rs112203893	11:134,128,659	G/A	—	benign
rs12801902	11:134,128,866	T/C	—	likely benign
rs12800491	11:134,128,867	C/A	—	likely benign
rs772337149	11:134,128,896	C/T	—	conflicting classifications of pathogenicity
rs988461205	11:134,128,905	G/C	—	uncertain significance
rs1591510555	11:134,128,909	G/A	—	likely benign
rs113488591	11:134,128,923	C/G	—	likely benign

Showing 100 of 238 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.