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EmVClass

NTD Genetics' Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by NTD Genetics for that gene.
NTD Genetics classification definitions may be reviewed here.
You may submit a question regarding a variant by clicking the appropriate button on the returned data table.
You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.
If a reported variant has changed classification, you may request an amended report by clicking here.
OrderGeneExonNucleotide ChangeProtein ChangeAlias ListingClassificationLast Reviewed  
1ACADMEx1NM_000016.4:c.-34T>CLRG_838t1:c.-34T>C, NM_000016.4:c.-34T>C, NM_001127328.1:c.-34T>CBenign10/01/2015 
2ACADMEx2NM_000016.4:c.31-32C>GLRG_838t1:c.31-20C>G, NM_000016.4:c.31-32C>G, NM_001127328.1:c.31-20C>G, XM_005270811.1:c.10+3552C>G, XM_005270812.1:c.-232-32C>G, XM_005270813.1:c.-145+3552C>G, XM_005270814.1:c.-4446C>GBenign** 
3ACADMEx2NM_000016.4:c.118G>Cp.Glu40Gln | p.E40QLRG_838t1:c.130G>C, NM_000016.4:c.118G>C, NM_001127328.1:c.130G>C, XM_005270811.1:c.10+3671G>C, XM_005270812.1:c.-145G>C, XM_005270813.1:c.-145+3671G>C, XM_005270814.1:c.-4327G>CVOUS10/01/2015
4ACADMEx3NM_000016.4:c.119-20T>CLRG_838t1:c.131-20T>C, NM_000016.4:c.119-20T>C, NM_001127328.1:c.131-20T>CBenign09/30/2019 
5ACADMEx3NM_000016.4:c.125C>Tp.Thr42Ile | p.T42ILRG_838t1:c.137C>T, NM_000016.4:c.125C>T, NM_001127328.1:c.137C>TVOUS10/01/2015
6ACADMEx3NM_000016.4:c.127G>Ap.Glu43Lys | p.E43KE18K, LRG_838t1:c.139G>A, NM_000016.4:c.127G>A, NM_001127328.1:c.139G>A, XM_005270811.1:c.19G>A, XM_005270812.1:c.-136G>A, XM_005270813.1:c.-136G>A, XM_005270814.1:c.-163G>APathogenic07/14/2019 
7ACADMEx3NM_000016.4:c.134A>Gp.Gln45Arg | p.Q45RLRG_838t1:c.146A>G, NM_000016.4:c.134A>G, NM_001127328.1:c.146A>G, Q20R, XM_005270811.1:c.26A>G, XM_005270812.1:c.-129A>G, XM_005270813.1:c.-129A>G, XM_005270814.1:c.-156A>GLikely pathogenic07/06/2017 
8ACADMEx3NM_000016.4:c.157C>Tp.Arg53Cys | p.R53CPathogenic11/16/2012 
9ACADMEx3NM_000016.4:c.166G>Cp.Ala56Pro | p.A56PA31P, LRG_838t1:c.178G>C, NM_000016.4:c.166G>C, NM_001127328.1:c.178G>CVOUS**
10ACADMEx3NM_000016.4:c.199T>Cp.Tyr67His | p.Y67HLRG_838t1:c.211T>C, MC Y67h, NM_000016.4:c.199T>C, NM_001127328.1:c.211T>C, XM_005270811.1:c.91T>C, XM_005270812.1:c.-64T>C, XM_005270813.1:c.-64T>C, XM_005270814.1:c.-91T>C, Y42HPathogenic01/24/2017 
11ACADMEx3NM_000016.4:c.216+2T>GLRG_838t1:c.228+2T>G, NM_000016.4:c.216+2T>G, NM_001127328.1:c.228+2T>G, XM_005270811.1:c.108+2T>G, XM_005270812.1:c.-45T>G, XM_005270813.1:c.-45T>G, XM_005270814.1:c.-74+2T>GPathogenic11/01/2012 
12ACADMEx3NM_000016.4:c.216+10T>CLRG_838t1:c.228+10T>C, NM_000016.4:c.216+10T>C, NM_001127328.1:c.228+10T>CBenign05/18/2020 
13ACADMEx4NM_000016.4:c.224delTPathogenic** 
14ACADMEx4NM_000016.4:c.230T>Ap.Leu77Gln | p.L77QL52Q, LRG_838t1:c.242T>A, NM_000016.4:c.230T>A, NM_001127328.1:c.242T>A, XM_005270811.1:c.122T>A, XM_005270812.1:c.-29T>A, XM_005270813.1:c.-29T>A, XM_005270814.1:c.-60T>AVOUS10/01/2015
15ACADMEx4NM_000016.4:c.233T>Cp.Ile78Thr | p.I78TI53T, LRG_838t1:c.245T>C, NM_000016.4:c.233T>C, NM_001127328.1:c.245T>CPathogenic10/18/2013 
16ACADMEx4NM_000016.4:c.244dupTLRG_838t1:c.256_257insT, NM_000016.4:c.244_245insT, NM_001127328.1:c.256_257insT, XM_005270811.1:c.136_137insT, XM_005270812.1:c.-15_-14insT, XM_005270813.1:c.-15_-14insT, XM_005270814.1:c.-46_-45insTPathogenic08/16/2016 
17ACADMEx4NM_000016.4:c.244_245insTp.Trp82Leufs*23 | p.W82LfsX23LRG_838t1:c.256_257insT, NM_000016.4:c.244_245insT, NM_001127328.1:c.256_257insT, XM_005270811.1:c.136_137insT, XM_005270812.1:c.-15_-14insT, XM_005270813.1:c.-15_-14insT, XM_005270814.1:c.-46_-45insTPathogenic03/01/2017 
18ACADMEx4NM_000016.4:c.250C>Tp.Leu84Phe | p.L84FLRG_838t1:c.262C>T, NM_000016.4:c.250C>T, NM_001127328.1:c.262C>T, XM_005270811.1:c.142C>T, XM_005270812.1:c.-9C>T, XM_005270813.1:c.-9C>T, XM_005270814.1:c.-40C>TPathogenic** 
19ACADMEx4NM_000016.4:c.253G>Ap.Gly85Ser | p.G85SLRG_838t1:c.265G>A, NM_000016.4:c.253G>A, NM_001127328.1:c.265G>A, XM_005270811.1:c.145G>A, XM_005270812.1:c.-6G>A, XM_005270813.1:c.-6G>A, XM_005270814.1:c.-37G>ALikely pathogenic07/06/2017 
20ACADMEx4NM_000016.4:c.253G>Tp.Gly85Cys | p.G85CLRG_838t1:c.265G>T, NM_000016.4:c.253G>T, NM_001127328.1:c.265G>T, XM_005270811.1:c.145G>T, XM_005270812.1:c.-6G>T, XM_005270813.1:c.-6G>T, XM_005270814.1:c.-37G>TVOUS10/24/2016
21ACADMEx4NM_000016.4:c.286G>Ap.Gly96Arg | p.G96RLRG_838t1:c.298G>A, NM_000016.4:c.286G>A, NM_001127328.1:c.298G>A, XM_005270811.1:c.178G>A, XM_005270812.1:c.28G>A, XM_005270813.1:c.28G>A, XM_005270814.1:c.-4G>AVOUS10/01/2015
22ACADMEx5NM_000016.4:c.287-7dupALRG_838t1:c.299-7_299-6insA, NM_000016.4:c.287-7_287-6insA, NM_001127328.1:c.299-7_299-6insA, XM_005270811.1:c.179-7_179-6insA, XM_005270812.1:c.29-7_29-6insA, XM_005270813.1:c.29-7_29-6insA, XM_005270814.1:c.-4+599_-4+600insAVOUS10/29/2019
23ACADMEx5NM_000016.4:c.287-1G>CNM_000016.4:c.287-1G>C, NM_001127328.1:c.299-1G>C, XM_005270811.1:c.179-1G>C, XM_005270812.1:c.29-1G>C, XM_005270813.1:c.29-1G>C, XM_005270814.1:c.-4+605G>CPathogenic12/03/2014 
24ACADMEx5NM_000016.4:c.296G>Tp.Gly99Val | p.G99VLRG_838t1:c.308G>T, NM_000016.4:c.296G>T, NM_001127328.1:c.308G>T, XM_005270811.1:c.188G>T, XM_005270812.1:c.38G>T, XM_005270813.1:c.38G>T, XM_005270814.1:c.-4+615G>TVOUS10/01/2015
25ACADMEx5NM_000016.4:c.320T>Cp.Leu107Ser | p.L107SLRG_838t1:c.332T>C, NM_000016.4:c.320T>C, NM_001127328.1:c.332T>CLikely pathogenic04/24/2019 
26ACADMEx5NM_000016.4:c.322_325delATTp.Ile108Valfs*41 | p.I108VfsX41LRG_838t1:c.334_337delATT, NM_000016.4:c.322_325delATT, NM_001127328.1:c.334_337delATT, XM_005270811.1:c.214_217delATT, XM_005270812.1:c.64_67delATT, XM_005270813.1:c.64_67delATT, XM_005270814.1:c.-4+641_-4+644delATTPathogenic03/02/2017 
27ACADMEx5NM_000016.4:c.330A>Gp.Glu110= | p.E110=LRG_838t1:c.342A>G, NM_000016.4:c.330A>G, NM_001127328.1:c.342A>G, XM_005270811.1:c.222A>G, XM_005270812.1:c.72A>G, XM_005270813.1:c.72A>G, XM_005270814.1:c.-4+649A>GVOUS10/01/2015
28ACADMEx5NM_000016.4:c.347G>Ap.Cys109Tyr | p.C109YC84Y, LRG_838t1:c.359G>A, NM_000016.4:c.347G>A, NM_001127328.1:c.359G>A, XM_005270811.1:c.239G>A, XM_005270812.1:c.89G>A, XM_005270813.1:c.89G>A, XM_005270814.1:c.-4+666G>AVOUS**
29ACADMEx5NM_000016.4:c.348T>Ap.Cys116* | p.C116XLRG_838t1:c.360T>A, NM_000016.4:c.348T>A, NM_001127328.1:c.360T>A, XM_005270811.1:c.240T>A, XM_005270812.1:c.90T>A, XM_005270813.1:c.90T>A, XM_005270814.1:c.-4+667T>APathogenic11/16/2018 
30ACADMEx5NM_000016.4:c.351A>Cp.Thr117= | p.T117=LRG_838t1:c.363A>C, NM_000016.4:c.351A>C, NM_001127328.1:c.363A>C, T92T, XM_005270811.1:c.243A>C, XM_005270812.1:c.93A>C, XM_005270813.1:c.93A>C, XM_005270814.1:c.-4+670A>CBenign09/30/2019 
31ACADMEx5NM_000016.4:c.362C>Tp.Thr121Ile | p.T121ILRG_838t1:c.374C>T, NM_000016.4:c.362C>T, NM_001127328.1:c.374C>T, XM_005270811.1:c.254C>T, XM_005270812.1:c.104C>T, XM_005270813.1:c.104C>T, XM_005270814.1:c.-4+681C>TPathogenic** 
32ACADMEx5NM_000016.4:c.366G>Tp.Gly129Val | p.G129VLRG_838t1:c.378G>T, NM_000016.4:c.366G>T, NM_001127328.1:c.378G>T, XM_005270811.1:c.258G>T, XM_005270812.1:c.108G>T, XM_005270813.1:c.108G>T, XM_005270814.1:c.-4+685G>TVOUS**
33ACADMEx5NM_000016.4:c.385G>Tp.Gly129Trp | p.G129WLRG_838t1:c.397G>T, NM_000016.4:c.385G>T, NM_001127328.1:c.397G>T, XM_005270811.1:c.277G>T, XM_005270812.1:c.127G>T, XM_005270813.1:c.127G>T, XM_005270814.1:c.-4+704G>TVOUS09/14/2015
34ACADMEx5NM_000016.4:c.387+1delGLRG_838t1:c.399+1delG, NM_000016.4:c.387+1delG, NM_001127328.1:c.399+1delG, XM_005270811.1:c.279+1delG, XM_005270812.1:c.129+1delG, XM_005270813.1:c.129+1delG, XM_005270814.1:c.-4+707delGVOUS10/01/2015
35ACADMEx5NM_000016.4:c.387+32C>GLRG_838t1:c.399+32C>G, NM_000016.4:c.387+32C>G, NM_001127328.1:c.399+32C>G, XM_005270811.1:c.279+32C>G, XM_005270812.1:c.129+32C>G, XM_005270813.1:c.129+32C>G, XM_005270814.1:c.-4+738C>GBenign** 
36ACADMEx6NM_000016.4:c.388-14A>GLRG_838t1:c.400-14A>G, NM_000016.4:c.388-14A>G, NM_001127328.1:c.400-14A>G, XM_005270811.1:c.280-14A>G, XM_005270812.1:c.130-14A>G, XM_005270813.1:c.130-14A>G, XM_005270814.1:c.-3-14A>GVOUS08/10/2018
37ACADMEx6NM_000016.4:c.388-12_388-10delTTTLRG_838t1:c.400-12_400-10delTTT, NM_000016.4:c.388-12_388-10delTTT, NM_001127328.1:c.400-12_400-10delTTT, XM_005270811.1:c.280-12_280-10delTTT, XM_005270812.1:c.130-12_130-10delTTT, XM_005270813.1:c.130-12_130-10delTTT, XM_005270814.1:c.-3-12_-3-10delTTTVOUS10/02/2015
38ACADMEx6NM_000016.4:c.388-5G>ALRG_838t1:c.400-5G>A, NM_000016.4:c.388-5G>A, NM_001127328.1:c.400-5G>A, XM_005270811.1:c.280-5G>A, XM_005270812.1:c.130-5G>A, XM_005270813.1:c.130-5G>A, XM_005270814.1:c.-3-5G>AVOUS10/01/2015
39ACADMEx6NM_000016.4:c.423_425delAAAp.Lys144del | p.K144delLRG_838t1:c.435_437delAAA, NM_000016.4:c.423_425delAAA, NM_001127328.1:c.435_437delAAAVOUS10/02/2015
40ACADMEx6NM_000016.4:c.430_432delAAGLRG_838t1:c.442_444delAAG, NM_000016.4:c.430_432delAAG, NM_001127328.1:c.442_444delAAGVOUS10/02/2015
41ACADMEx6NM_000016.4:c.443G>Ap.Arg148Lys | p.R148KLRG_838t1:c.455G>A, NM_000016.4:c.443G>A, NM_001127328.1:c.455G>A, XM_005270811.1:c.335G>A, XM_005270812.1:c.185G>A, XM_005270813.1:c.185G>A, XM_005270814.1:c.53G>APathogenic10/02/2015 
42ACADMEx6NM_000016.4:c.447G>Ap.Met149Ile | p.M149ILRG_838t1:c.459G>A, NM_000016.4:c.447G>A, NM_001127328.1:c.459G>A, XM_005270811.1:c.339G>A, XM_005270812.1:c.189G>A, XM_005270813.1:c.189G>A, XM_005270814.1:c.57G>APathogenic06/13/2014 
43ACADMEx6NM_000016.4:c.447G>Tp.Met149Ile | p.M149ILRG_838t1:c.459G>T, M124I, NM_000016.4:c.447G>T, NM_001127328.1:c.459G>T, XM_005270811.1:c.339G>T, XM_005270812.1:c.189G>T, XM_005270813.1:c.189G>T, XM_005270814.1:c.57G>TPathogenic** 
44ACADMEx6NM_000016.4:c.449_452delCTGALRG_838t1:c.461_464delCTGA, NM_000016.4:c.449_452delCTGA, NM_001127328.1:c.461_464delCTGAPathogenic03/02/2017 
45ACADMEx6NM_000016.4:c.468+7A>TLRG_838t1:c.480+7A>T, NM_000016.4:c.468+7A>T, NM_001127328.1:c.480+7A>T, XM_005270811.1:c.360+7A>T, XM_005270812.1:c.210+7A>T, XM_005270813.1:c.210+7A>T, XM_005270814.1:c.78+7A>TVOUS10/13/2015
46ACADMEx7NM_000016.4:c.469-22C>ALRG_838t1:c.481-22C>A, NM_000016.4:c.469-22C>A, NM_001127328.1:c.481-22C>A, XM_005270811.1:c.361-22C>A, XM_005270812.1:c.211-22C>A, XM_005270813.1:c.211-22C>A, XM_005270814.1:c.79-22C>ABenign** 
47ACADMEx7NM_000016.4:c.469G>Ap.Ala157Thr | p.A157TLRG_838t1:c.481G>A, NM_000016.4:c.469G>A, NM_001127328.1:c.481G>A, XM_005270811.1:c.361G>A, XM_005270812.1:c.211G>A, XM_005270813.1:c.211G>A, XM_005270814.1:c.79G>AVOUS10/02/2015
48ACADMEx7NM_000016.4:c.489T>Gp.Pro163= | p.P163=LRG_838t1:c.501T>G, NM_000016.4:c.489T>G, NM_001127328.1:c.501T>G, P138P, XM_005270811.1:c.381T>G, XM_005270812.1:c.231T>G, XM_005270813.1:c.231T>G, XM_005270814.1:c.99T>GBenign10/03/2012 
49ACADMEx7NM_000016.4:c.526G>Ap.Ala176Thr | p.A176TLRG_838t1:c.538G>A, NM_000016.4:c.526G>A, NM_001127328.1:c.538G>A, XM_005270811.1:c.418G>A, XM_005270812.1:c.268G>A, XM_005270813.1:c.268G>A, XM_005270814.1:c.136G>APathogenic** 
50ACADMEx7NM_000016.4:c.539_541delGALRG_838t1:c.551_553delGA, NM_000016.4:c.539_541delGA, NM_001127328.1:c.551_553delGA, XM_005270811.1:c.431_433delGA, XM_005270812.1:c.281_283delGA, XM_005270813.1:c.281_283delGA, XM_005270814.1:c.149_151delGAPathogenic03/02/2017 
51ACADMEx7NM_000016.4:c.554T>Cp.Ile185Thr | p.I185TI160TVOUS**
52ACADMEx7NM_000016.4:c.558T>Ap.Asn186Lys | p.N186KNM_000016.4:c.558T>A, NM_001127328.1:c.570T>A, XM_005270811.1:c.450T>A, XM_005270812.1:c.300T>A, XM_005270813.1:c.300T>A, XM_005270814.1:c.168T>AVOUS04/20/2015
53ACADMEx7NM_000016.4:c.583G>Ap.Gly195Arg | p.G195RG170R, LRG_838t1:c.595G>A, NM_000016.4:c.583G>A, NM_001127328.1:c.595G>A, XM_005270811.1:c.475G>A, XM_005270812.1:c.325G>A, XM_005270813.1:c.325G>A, XM_005270814.1:c.193G>APathogenic03/13/2019 
54ACADMEx8NM_000016.4:c.600-18G>ALRG_838t1:c.612-18G>A, NM_000016.4:c.600-18G>A, NM_001127328.1:c.612-18G>AVOUS**
55ACADMEx8NM_000016.4:c.616C>Tp.Arg206Cys | p.R206CLRG_838t1:c.628C>T, NM_000016.4:c.616C>T, NM_001127328.1:c.628C>T, R181CPathogenic08/29/2012 
56ACADMEx8NM_000016.4:c.617G>Ap.Arg206His | p.R206HLRG_838t1:c.629G>A, NM_000016.4:c.617G>A, NM_001127328.1:c.629G>A, R181HPathogenic10/09/2013 
57ACADMEx8NM_000016.4:c.653C>Ap.Ala218Asp | p.A218DLRG_838t1:c.665C>A, NM_000016.4:c.653C>A, NM_001127328.1:c.665C>A, XM_005270811.1:c.545C>A, XM_005270812.1:c.395C>A, XM_005270813.1:c.395C>A, XM_005270814.1:c.263C>AVOUS03/13/2019
58ACADMEx8NM_000016.4:c.659C>Tp.Thr220Ile | p.T220INM_000016.4:c.659C>T, NM_001127328.1:c.671C>T, XM_005270811.1:c.551C>T, XM_005270812.1:c.401C>T, XM_005270813.1:c.401C>T, XM_005270814.1:c.269C>TVOUS09/14/2015
59ACADMEx8NM_000016.4:c.673G>Ap.Glu225Lys | p.E225KE200K, LRG_838t1:c.685G>A, NM_000016.4:c.673G>A, NM_001127328.1:c.685G>A, XM_005270811.1:c.565G>A, XM_005270812.1:c.415G>A, XM_005270813.1:c.415G>A, XM_005270814.1:c.283G>AVOUS10/13/2015
60ACADMEx8NM_000016.4:c.692T>Cp.Ile231Thr | p.I231TI206T, LRG_838t1:c.704T>C, NM_000016.4:c.692T>C, NM_001127328.1:c.704T>C, XM_005270811.1:c.584T>C, XM_005270812.1:c.434T>C, XM_005270813.1:c.434T>C, XM_005270814.1:c.302T>CVOUS10/19/2015
61ACADMEx8NM_000016.4:c.698T>Cp.Ile233Thr | p.I233TI208T, LRG_838t1:c.710T>C, NM_000016.4:c.698T>C, NM_001127328.1:c.710T>C, XM_005270811.1:c.590T>C, XM_005270812.1:c.440T>C, XM_005270813.1:c.440T>C, XM_005270814.1:c.308T>CLikely pathogenic01/24/2017 
62ACADMEx9NM_000016.4:c.709-13A>GNM_000016.4:c.709-13A>G, NM_001127328.1:c.721-13A>G, XM_005270811.1:c.601-13A>G, XM_005270812.1:c.451-13A>G, XM_005270813.1:c.451-13A>G, XM_005270814.1:c.319-13A>GVOUS05/18/2015
63ACADMEx9NM_000016.4:c.734C>Tp.Ser245Leu | p.S245LLRG_838t1:c.746C>T, NM_000016.4:c.734C>T, NM_001127328.1:c.746C>T, S220LPathogenic08/19/2013 
64ACADMEx9NM_000016.4:c.799G>Ap.Gly267Arg | p.G267RG242R, LRG_838t1:c.811G>A, NM_000016.4:c.799G>A, NM_001127328.1:c.811G>A, XM_005270811.1:c.691G>A, XM_005270812.1:c.541G>A, XM_005270813.1:c.541G>A, XM_005270814.1:c.409G>APathogenic11/19/2018 
65ACADMEx10NM_000016.4:c.866T>Cp.Val289Ala | p.V289ALRG_838t1:c.878T>C, NM_000016.4:c.866T>C, NM_001127328.1:c.878T>C, XM_005270811.1:c.758T>C, XM_005270812.1:c.608T>C, XM_005270813.1:c.608T>C, XM_005270814.1:c.476T>CVOUS12/11/2018
66ACADMEx10NM_000016.4:c.890A>Gp.Asp297Gly | p.D297GPathogenic** 
67ACADMEx10NM_000016.4:c.927delCp.Phe309Leufs*6 | p.F309LfsX6LRG_838t1:c.939delC, NM_000016.4:c.927delC, NM_001127328.1:c.939delC, XM_005270811.1:c.819delC, XM_005270812.1:c.669delC, XM_005270813.1:c.669delC, XM_005270814.1:c.537delCPathogenic08/22/2017 
68ACADMEx10NM_000016.4:c.928G>Ap.Gly310Arg | p.G310RLRG_838t1:c.940G>A, NM_000016.4:c.928G>A, NM_001127328.1:c.940G>A, XM_005270811.1:c.820G>A, XM_005270812.1:c.670G>A, XM_005270813.1:c.670G>A, XM_005270814.1:c.538G>AVOUS10/31/2014
69ACADMEx10NM_000016.4:c.938T>Cp.Leu313Pro | p.L313PLRG_838t1:c.950T>C, NM_000016.4:c.938T>C, NM_001127328.1:c.950T>C, XM_005270811.1:c.830T>C, XM_005270812.1:c.680T>C, XM_005270813.1:c.680T>C, XM_005270814.1:c.548T>CVOUS10/22/2015
70ACADMEx11NM_000016.4:c.984delGPathogenic** 
71ACADMEx11NM_000016.4:c.985A>Gp.Lys329Glu | p.K329EK304E, LRG_838t1:c.997A>G, MC K329e, NM_000016.4:c.985A>G, NM_001127328.1:c.997A>G, XM_005270811.1:c.877A>G, XM_005270812.1:c.727A>G, XM_005270813.1:c.727A>G, XM_005270814.1:c.595A>GPathogenic05/18/2020 
72ACADMEx11NM_000016.4:c.994C>Tp.Leu332= | p.L332=LRG_838t1:c.1006C>T, NM_000016.4:c.994C>T, NM_001127328.1:c.1006C>T, XM_005270811.1:c.886C>T, XM_005270812.1:c.736C>T, XM_005270813.1:c.736C>T, XM_005270814.1:c.604C>TVOUS01/12/2017
73ACADMEx11NM_000016.4:c.999_1011dupTAGAATGAGTTACLRG_838t1:c.1023_1024insTAGAATGAGTTAC, NM_000016.4:c.1011_1012insTAGAATGAGTTAC, NM_001127328.1:c.1023_1024insTAGAATGAGTTAC, XM_005270811.1:c.903_904insTAGAATGAGTTAC, XM_005270812.1:c.753_754insTAGAATGAGTTAC, XM_005270813.1:c.753_754insTAGAATGAGTTAC, XM_005270814.1:c.621_622insTAGAATGAGTTACPathogenic06/26/2016 
74ACADMEx11NM_000016.4:c.1007G>Ap.Ser336Asn | p.S336NNM_000016.4:c.1007G>A, NM_001127328.1:c.1019G>A, XM_005270811.1:c.899G>A, XM_005270812.1:c.749G>A, XM_005270813.1:c.749G>A, XM_005270814.1:c.617G>AVOUS04/02/2015
75ACADMEx11NM_000016.4:c.1019C>Tp.Ala340Val | p.A340VA315V, LRG_838t1:c.1031C>T, NM_000016.4:c.1019C>T, NM_001127328.1:c.1031C>T, XM_005270811.1:c.911C>T, XM_005270812.1:c.761C>T, XM_005270813.1:c.761C>T, XM_005270814.1:c.629C>TVOUS10/22/2015
76ACADMEx11NM_000016.4:c.1022C>Tp.Ala341Val | p.A341VA316V, LRG_838t1:c.1034C>T, NM_000016.4:c.1022C>T, NM_001127328.1:c.1034C>T, XM_005270811.1:c.914C>T, XM_005270812.1:c.764C>T, XM_005270813.1:c.764C>T, XM_005270814.1:c.632C>TVOUS10/22/2015
77ACADMEx11NM_000016.4:c.1054T>Gp.Tyr352Asp | p.Y352DLRG_838t1:c.1066T>G, NM_000016.4:c.1054T>G, NM_001127328.1:c.1066T>G, XM_005270811.1:c.946T>G, XM_005270812.1:c.796T>G, XM_005270813.1:c.796T>G, XM_005270814.1:c.664T>GVOUS09/05/2017
78ACADMEx11NM_000016.4:c.1091T>Cp.Ile364Thr | p.I364TLRG_838t1:c.1103T>C, NM_000016.4:c.1091T>C, NM_001127328.1:c.1103T>CVOUS10/22/2015
79ACADMEx11NM_000016.4:c.1102_1105delTTAGp.Ala369Leufs*18 | p.A369LfsX18LRG_838t1:c.1114_1117delTTAG, NM_000016.4:c.1102_1105delTTAG, NM_001127328.1:c.1114_1117delTTAGPathogenic11/08/2012 
80ACADMEx11NM_000016.4:c.1161A>Gp.Val387= | p.V387=LRG_838t1:c.1173A>G, NM_000016.4:c.1161A>G, NM_001127328.1:c.1173A>G, XM_005270811.1:c.1053A>G, XM_005270812.1:c.903A>G, XM_005270813.1:c.903A>G, XM_005270814.1:c.771A>GBenign05/18/2020 
81ACADMEx11NM_000016.4:c.1192C>Ap.Gln398Lys | p.Q398KLRG_838t1:c.1204C>A, NM_000016.4:c.1192C>A, NM_001127328.1:c.1204C>A, XM_005270811.1:c.1084C>A, XM_005270812.1:c.934C>A, XM_005270813.1:c.934C>A, XM_005270814.1:c.802C>AVOUS**
82ACADMEx12NM_000016.4:c.*39G>ABenign** 
83ACADMEx12NM_000016.4:c.*44T>CLRG_838t1:c.*44T>C, NM_000016.4:c.*44T>C, NM_001127328.1:c.*44T>C, XM_005270811.1:c.*44T>C, XM_005270812.1:c.*44T>C, XM_005270813.1:c.*44T>C, XM_005270814.1:c.*44T>CVOUS**
84ACADMEx12NM_000016.4:c.1207A>Gp.Thr403Ala | p.T403ALRG_838t1:c.1219A>G, NM_000016.4:c.1207A>G, NM_001127328.1:c.1219A>G, T378A, XM_005270811.1:c.1099A>G, XM_005270812.1:c.949A>G, XM_005270813.1:c.949A>G, XM_005270814.1:c.817A>GVOUS**
85ACADMEx12NM_000016.4:c.1229T>Cp.Ile410Thr | p.I410TI385T, NM_000016.4:c.1229T>C, NM_001127328.1:c.1241T>C, XM_005270811.1:c.1121T>C, XM_005270812.1:c.971T>C, XM_005270813.1:c.971T>C, XM_005270814.1:c.839T>CVOUS**
86ACADMEx12NM_000016.4:c.1238G>Ap.Arg413His | p.R413HLRG_838t1:c.1250G>A, NM_000016.4:c.1238G>A, NM_001127328.1:c.1250G>A, R388H, XM_005270811.1:c.1130G>A, XM_005270812.1:c.980G>A, XM_005270813.1:c.980G>A, XM_005270814.1:c.848G>APathogenic03/05/2020 
87ACADMEx3NM_000016.5:c.199T>Cp.Tyr67His | p.Y67HLRG_838t1:c.211T>C, NM_000016.4:c.199T>C, NM_001127328.1:c.211T>C, XM_005270811.1:c.91T>C, XM_005270812.1:c.-64T>C, XM_005270813.1:c.-64T>C, XM_005270814.1:c.-91T>CPathogenic09/02/2020 
88ACADMEx3NM_000016.5:c.216+10T>CBenign09/02/2020 
89ACADMEx7NM_000016.5:c.581A>Gp.Asn194Ser | p.N194SLRG_838t1:c.593A>G, NM_000016.4:c.581A>G, NM_001127328.1:c.593A>G, XM_005270811.1:c.473A>G, XM_005270812.1:c.323A>G, XM_005270813.1:c.323A>G, XM_005270814.1:c.191A>GVOUS07/18/2019
90ACADMEx11NM_000016.5:c.985A>Gp.Lys329Glu | p.K329ELRG_838t1:c.997A>G, NM_000016.4:c.985A>G, NM_001127328.1:c.997A>G, XM_005270811.1:c.877A>G, XM_005270812.1:c.727A>G, XM_005270813.1:c.727A>G, XM_005270814.1:c.595A>GPathogenic11/13/2020 
91ACADMEx11NM_000016.5:c.1161A>Gp.Val387= | p.V387=LRG_838t1:c.1173A>G, NM_000016.4:c.1161A>G, NM_001127328.1:c.1173A>G, XM_005270811.1:c.1053A>G, XM_005270812.1:c.903A>G, XM_005270813.1:c.903A>G, XM_005270814.1:c.771A>GBenign09/02/2020 
92ACADMEx12NM_000016.5:c.1238G>Ap.Arg413His | p.R413HLRG_838t1:c.1250G>A, NM_000016.4:c.1238G>A, NM_001127328.1:c.1250G>A, XM_005270811.1:c.1130G>A, XM_005270812.1:c.980G>A, XM_005270813.1:c.980G>A, XM_005270814.1:c.848G>APathogenic03/05/2020 

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by NTD Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2021-Q4.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official NTD Genetics clinical report and should be approached with caution. Only variants identified at NTD Genetics are listed in the EmVClass. If you intend to use NTD Genetics' classification for publication purposes please contact the laboratory for permission.