Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)	SNV Germline	Chr15:76286463	Pathogenic/Likely pathogenic	Glutaric acidemia IIa Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA115637	rs_119458969	4 SubmittersRCV000002711 RCV002281690
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)	SNV Germline	Chr15:76274431	Pathogenic	Glutaric acidemia IIa Condition: not provided Multiple acyl-CoA dehydrogenase deficiency ETFA-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA115638	rs_119458970	13 SubmittersRCV000002712 RCV000185868 RCV000332032 RCV003904798 RCV005549903
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)	SNV Germline	Chr15:76292436	Likely pathogenic	Glutaric acidemia IIa Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA115639	rs_119458971	2 SubmittersRCV000002713 RCV003472959
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)	SNV Germline	Chr4:158672458	Pathogenic	Glutaric acidemia IIc Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA121815	rs_121964953	2 SubmittersRCV000012806 RCV002512993
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	SNV Germline	Chr4:158682269	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia IIc Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA121817	rs_121964954	13 SubmittersRCV000553294 RCV000012808 RCV000224728 RCV003231099
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu)	SNV Germline	Chr4:158685137	Pathogenic	Glutaric acidemia IIc Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA121819	rs_121964955	3 SubmittersRCV000012809 RCV002512994
NM_004453.4(ETFDH):c.380T>A (p.Leu127His)	SNV Germline	Chr4:158682399	Pathogenic/Likely pathogenic	Glutaric acidemia IIc Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA121821	rs_121964956	5 SubmittersRCV000012810 RCV000721976
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)	SNV Germline	Chr19:51347006	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia IIb Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA126841	rs_104894677	4 SubmittersRCV001235936 RCV000018200 RCV005409601
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)	SNV Germline	Chr19:51350385	Conflicting classifications of pathogenicity	Glutaric acidemia IIb Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA126842	rs_104894678	5 SubmittersRCV000018202 RCV002513095 RCV004525856
NM_004453.4(ETFDH):c.524G>A (p.Arg175His)	SNV Germline	Chr4:158685137	Pathogenic/Likely pathogenic	Glutaric acidemia IIc Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129815	rs_121964955	7 SubmittersRCV000024282 RCV001216553 RCV001826506 RCV004589522
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)	SNV Germline	Chr4:158703436	Pathogenic/Likely pathogenic	Glutaric acidemia iic, late-onset Inborn genetic diseases Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA129834	rs_387907170	11 SubmittersRCV000024305 RCV000210651 RCV000578325 RCV001831605
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)	SNV Germline	Chr4:158706351	Pathogenic/Likely pathogenic	Glutaric acidemia iic, late-onset Multiple acyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II Glutaric acidemia type 2C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129836	rs_377656387	10 SubmittersRCV000024306 RCV000634896 RCV001250164 RCV001831606 RCV002054473
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)	SNV Germline	Chr4:158703540	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA222708	rs_398124151	6 SubmittersRCV000081076 RCV000173803
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)	SNV Germline	Chr4:158706270	Pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA285628	rs_398124152	10 SubmittersRCV000081077 RCV000174102
NM_004453.4(ETFDH):c.832-10T>G	SNV Germline	Chr4:158697549	Conflicting classifications of pathogenicity	not specified Condition: not provided ETFDH-related disorder Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA290771	rs_200911913	5 SubmittersRCV000124918 RCV000676845 RCV003935187 RCV001079915
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)	SNV Germline	Chr15:76311387	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA295613	rs_727503918	5 SubmittersRCV000153198 RCV000324694
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)	SNV Germline	Chr4:158680511	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA233953	rs_537038850	7 SubmittersRCV000153200 RCV000392257 RCV001831952
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)	SNV Germline	Chr4:158706691	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA239854	rs_780768015	6 SubmittersRCV000174333 RCV000275519
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)	SNV Germline	Chr4:158699015	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Glutaric acidemia type 2C Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA346892	rs_377686388	8 SubmittersRCV000180601 RCV000723385 RCV001826924 RCV004975312
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala)	SNV Germline	Chr4:158680523	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA312521	rs_182144074	3 SubmittersRCV000185888 RCV000297924 RCV004975313
NM_004453.4(ETFDH):c.175+1G>C	SNV Germline	Chr4:158680608	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312551	rs_796051961	2 SubmittersRCV000185903 RCV005031723
NM_004453.4(ETFDH):c.380T>C (p.Leu127Pro)	SNV Germline	Chr4:158682399	Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312523	rs_121964956	2 SubmittersRCV000185889 RCV005089931
NM_004453.4(ETFDH):c.405+3A>T	SNV Germline	Chr4:158682427	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312555	rs_796051965	4 SubmittersRCV000185907 RCV000809835
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)	SNV Germline	Chr4:158685185	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Hypertrophic cardiomyopathy ETFDH-related disorder	Criteria Provided Conflicting Classifications	CA312529	rs_147219158	6 SubmittersRCV000185892 RCV001079922 RCV001199401 RCV003937656
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)	SNV Germline	Chr4:158695545	Conflicting classifications of pathogenicity	not specified Glutaric acidemia type 2C Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312531	rs_371260517	4 SubmittersRCV000185893 RCV001827992 RCV002517823
NM_004453.4(ETFDH):c.929A>G (p.Tyr310Cys)	SNV Germline	Chr4:158697656	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA312535	rs_796051958	3 SubmittersRCV000185895 RCV004796079 RCV005237678
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys)	SNV Germline	Chr4:158699087	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312539	rs_796051959	2 SubmittersRCV000185897 RCV002478652
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)	SNV Germline	Chr4:158699093	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA312541	rs_776428695	3 SubmittersRCV000185898 RCV002516968 RCV002282017
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)	SNV Germline	Chr4:158706254	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA312543	rs_558005496	6 SubmittersRCV001053110 RCV004791312
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)	SNV Germline	Chr4:158706278	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312545	rs_200111698	5 SubmittersRCV000185900 RCV000660476
NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter)	SNV Germline	Chr4:158708482	Pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312547	rs_796051960	2 SubmittersRCV000185901 RCV003474942
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)	SNV Germline	Chr4:158708525	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312549	rs_765742496	2 SubmittersRCV002047712
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)	SNV Germline	Chr15:76231389	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency ETFA-related disorder	Criteria Provided Conflicting Classifications	CA312487	rs_141200145	8 SubmittersRCV000185869 RCV000527908 RCV003977491
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)	SNV Germline	Chr15:76286400	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided ETFA-related disorder	Criteria Provided Conflicting Classifications	CA312477	rs_140169311	6 SubmittersRCV000320514 RCV000726964 RCV003917703
NM_000126.4(ETFA):c.186+7A>G	SNV Germline	Chr15:76295584	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Glutaric acidemia type 2A	Criteria Provided Conflicting Classifications	CA312476	rs_184587113	7 SubmittersRCV000185862 RCV000323787 RCV000676980 RCV001833109
NM_001985.3(ETFB):c.709G>A (p.Val237Ile)	SNV Germline	Chr19:51345270	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA312500	rs_149129214	5 SubmittersRCV000416208 RCV000809414 RCV002516967
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)	SNV Germline	Chr19:51353215	Conflicting classifications of pathogenicity	not specified Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Chronic kidney disease ETFB-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA312494	rs_147353781	7 SubmittersRCV000185874 RCV000658852 RCV001086047 RCV001171332 RCV003907648 RCV005328224
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)	SNV Germline	Chr19:51353229	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA312492	rs_139519507	6 SubmittersRCV000415826 RCV000814061 RCV002517821
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)	SNV Germline	Chr19:51353275	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA312506	rs_548046212	3 SubmittersRCV000185880 RCV002513954 RCV002222436
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro)	SNV Germline	Chr4:158706647	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351297	rs_863224869	3 SubmittersRCV001381020
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)	SNV Germline	Chr1:154992746	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Myopathy with abnormal lipid metabolism Condition: not provided FLAD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1134629	rs_771466122	6 SubmittersRCV000223948 RCV000234835 RCV000521126 RCV003407734
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter)	SNV Germline	Chr4:158680589	Pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10581271	rs_878853006	2 SubmittersRCV000224742 RCV003624410
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)	SNV Germline	Chr4:158684648	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10581378	rs_878853082	4 SubmittersRCV000224819 RCV002519760
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)	SNV Germline	Chr15:76287855	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2A	Criteria Provided Conflicting Classifications	CA7673764	rs_199673198	3 SubmittersRCV000224700 RCV001081384 RCV001272688
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)	SNV Germline	Chr4:158708505	Pathogenic/Likely pathogenic	Condition: not provided Glutaric acidemia type 2C Multiple acyl-CoA dehydrogenase deficiency ETFDH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3122732	rs_761669036	6 SubmittersRCV000255489 RCV001833298 RCV001069003 RCV004748682
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)	SNV Germline	Chr15:76285676	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7673697	rs_199763682	4 SubmittersRCV000254926 RCV001228210
NM_000126.4(ETFA):c.6C>T (p.Phe2=)	SNV Germline	Chr15:76311383	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Glutaric acidemia type 2A	Criteria Provided Conflicting Classifications	CA7673900	rs_749929239	4 SubmittersRCV000341012 RCV001079275 RCV000725409 RCV001272689
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)	SNV Germline	Chr4:158680495	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3122276	rs_566605780	4 SubmittersRCV000341906 RCV004584692
NM_004453.4(ETFDH):c.1116+7C>T	SNV Germline	Chr4:158699137	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3122550	rs_748640706	3 SubmittersRCV000301497
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)	SNV Germline	Chr4:158672468	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Conflicting Classifications	CA3122251	rs_373776053	3 SubmittersRCV000284618 RCV001833469
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)	SNV Germline	Chr4:158680574	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3122283	rs_201823591	2 SubmittersRCV000392282
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)	SNV Germline	Chr4:158706269	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3122610	rs_751821289	7 SubmittersRCV000763116 RCV000415983
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)	SNV Germline	Chr4:158706678	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3122652	rs_146882697	3 SubmittersRCV001145314 RCV001703659
NM_000126.4(ETFA):c.-42C>T	SNV Germline	Chr15:76311430	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA16606783	rs_546128998	2 SubmittersRCV000432359 RCV001119611
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)	SNV Germline	Chr4:158685136	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3122387	rs_762928354	3 SubmittersRCV000485144 RCV002525759
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)	SNV Germline	Chr4:158685173	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3122394	rs_369912835	3 SubmittersRCV000479281 RCV001865424
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)	SNV Germline	Chr4:158706761	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122669	rs_200920510	5 SubmittersRCV000483304 RCV000818859
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)	SNV Germline	Chr4:158684649	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA108850123	rs_549150456	6 SubmittersRCV000489467 RCV000987487
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)	SNV Germline	Chr4:158699033	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA358562056	rs_1131691336	3 SubmittersRCV000493889 RCV001856959 RCV002282174
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	SNV Germline	Chr15:76283823	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Glutaric acidemia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA7673658	rs_769976586	7 SubmittersRCV000779174 RCV000493941 RCV001829411
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)	SNV Germline	Chr4:158684599	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA3122353	rs_779896449	6 SubmittersRCV000498882 RCV000763115 RCV001266160
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)	SNV Germline	Chr4:158699098	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C ETFDH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3122544	rs_369711837	5 SubmittersRCV000539322 RCV001829570 RCV003419931
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)	SNV Germline	Chr4:158706317	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C Condition: not provided Glutaric acidemia IIc	Criteria Provided Multiple Submitters No Conflicts	CA3122617	rs_746598421	7 SubmittersRCV000554634 RCV001834766 RCV004592560 RCV004798842
NM_004453.4(ETFDH):c.488-9T>C	SNV Germline	Chr4:158685092	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C not specified	Criteria Provided Conflicting Classifications	CA658657406	rs_1554031705	3 SubmittersRCV000543533 RCV001829571 RCV005431741
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)	SNV Germline	Chr4:158690420	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3122427	rs_141407224	5 SubmittersRCV000558221 RCV004808752
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)	SNV Germline	Chr19:51346920	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA9610716	rs_200186078	3 SubmittersRCV000540682 RCV001551094
NM_000126.4(ETFA):c.882+5T>C	SNV Germline	Chr15:76231328	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7673586	rs_377259058	2 SubmittersRCV000605516 RCV001860309
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)	SNV Germline	Chr4:158703447	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358562756	rs_1466787789	2 SubmittersRCV000625637
NM_004453.4(ETFDH):c.1690+1G>T	SNV Germline	Chr4:158706851	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA108819497	rs_917285990	3 SubmittersRCV000634895
NM_004453.4(ETFDH):c.1285+1G>A	SNV Germline	Chr4:158703592	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA3122581	rs_767046886	3 SubmittersRCV000634893 RCV001835015
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)	SNV Germline	Chr4:158680553	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Abnormality of metabolism/homeostasis ETFDH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3122278	rs_773668457	6 SubmittersRCV000699705 RCV001814220 RCV004748909
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)	SNV Germline	Chr4:158672490	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA358573042	rs_1172887273	3 SubmittersRCV000699613 RCV001577644
NM_004453.4(ETFDH):c.807A>C (p.Gln269His)	SNV Germline	Chr4:158695619	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C Glutaric acidemia IIc	Criteria Provided Conflicting Classifications	CA358560944	rs_1265381182	3 SubmittersRCV000685445 RCV001829892 RCV004798855
NM_004453.4(ETFDH):c.831+4T>C	SNV Germline	Chr4:158695647	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3122455	rs_752971257	3 SubmittersRCV000698477 RCV001585642 RCV002534358
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys)	SNV Germline	Chr19:51346932	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA9610720	rs_376065198	2 SubmittersRCV000691202 RCV001551852
NM_004453.4(ETFDH):c.1469-1G>T	SNV Germline	Chr4:158706628	Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358564668	rs_1561251640	2 SubmittersRCV000722270 RCV001868918
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)	SNV Germline	Chr4:158706291	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA358564115	rs_1561251388	5 SubmittersRCV000723006 RCV000987490
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)	SNV Germline	Chr4:158685158	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA3122390	rs_767249944	3 SubmittersRCV000778725 RCV001830667
NM_004453.4(ETFDH):c.1116+2T>C	SNV Germline	Chr4:158699132	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358562393	rs_1561247874	1 SubmittersRCV000778726
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)	SNV Germline	Chr4:158682408	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122330	rs_199899494	5 SubmittersRCV000813251
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)	SNV Germline	Chr4:158695582	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3122444	rs_780015493	10 SubmittersRCV000824611 RCV004702465
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)	SNV Germline	Chr4:158703517	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122571	rs_779253471	6 SubmittersRCV000799942
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter)	SNV Germline	Chr4:158706277	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358564051	rs_1580422708	1 SubmittersRCV000806807
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)	SNV Germline	Chr15:76295725	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA7673866	rs_754202690	7 SubmittersRCV000824641 RCV001564261 RCV002538204
NM_004453.4(ETFDH):c.973-1G>A	SNV Germline	Chr4:158698986	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358561887	rs_1580415323	1 SubmittersRCV000811062
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe)	SNV Germline	Chr19:51347045	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA9610740	rs_74735908	2 SubmittersRCV000864900 RCV002245716
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)	SNV Germline	Chr4:158699063	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided ETFDH-related disorder	Criteria Provided Conflicting Classifications	CA3122541	rs_139306043	8 SubmittersRCV000879649 RCV001731970 RCV003908392
NM_000126.4(ETFA):c.720A>G (p.Gln240=)	SNV Germline	Chr15:76283770	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7673648	rs_756864231	2 SubmittersRCV000982193
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)	SNV Germline	Chr15:76311382	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	No Assertion Criteria Provided	CA393519620	rs_1475984278	1 SubmittersRCV000985194
NM_001985.3(ETFB):c.58-57C>T	SNV Germline	Chr19:51354365	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	No Assertion Criteria Provided	CA9610888	rs_766066977	1 SubmittersRCV000985168
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)	SNV Germline	Chr1:154988477	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Myopathy with abnormal lipid metabolism	Criteria Provided Multiple Submitters No Conflicts	CA1134389	rs_199979286	3 SubmittersRCV000986423 RCV001382523 RCV004689943
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)	SNV Germline	Chr4:158682314	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia IIc Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA3122315	rs_371493232	6 SubmittersRCV000987486 RCV002255101 RCV001832301
NM_004453.4(ETFDH):c.684+2T>G	SNV Germline	Chr4:158690427	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358560069	rs_1580406119	2 SubmittersRCV000987488
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)	SNV Germline	Chr4:158699120	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA358562365	rs_754418186	4 SubmittersRCV000987489 RCV002222651
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser)	SNV Unknown	Chr4:158706707	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358564837	rs_1580423432	1 SubmittersRCV000987491
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)	SNV Germline	Chr4:158695626	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3122450	rs_763541530	6 SubmittersRCV001051962 RCV001545243
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)	SNV Germline	Chr4:158697585	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358561301	rs_1235904433	2 SubmittersRCV001068689
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser)	SNV Germline	Chr4:158697619	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358561453	rs_1774344831	1 SubmittersRCV001035118
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg)	SNV Germline	Chr4:158706302	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358564492	rs_1174882036	2 SubmittersRCV001069265
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)	SNV Germline	Chr4:158706353	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA358564612	rs_1774616485	3 SubmittersRCV001050937 RCV001827320
NM_004453.4(ETFDH):c.1117-1G>A	SNV Germline	Chr4:158703422	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358562669	rs_1774518252	2 SubmittersRCV001040654
NM_000126.4(ETFA):c.664+1G>A	SNV Germline	Chr15:76285636	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393513105	rs_2039698086	1 SubmittersRCV001069226
NM_000126.4(ETFA):c.366A>G (p.Arg122=)	SNV Germline	Chr15:76287931	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA491328127	rs_2039718120	2 SubmittersRCV001118067
NM_000126.4(ETFA):c.78T>C (p.Ala26=)	SNV Germline	Chr15:76295699	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7673863	rs_773298687	2 SubmittersRCV001118070
NM_000126.4(ETFA):c.66C>T (p.Thr22=)	SNV Germline	Chr15:76295711	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency ETFA-related disorder	Criteria Provided Conflicting Classifications	CA7673864	rs_370375322	3 SubmittersRCV001118071 RCV003898113
NM_000126.4(ETFA):c.882+10C>T	SNV Germline	Chr15:76231323	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA645592038	rs_2039064081	2 SubmittersRCV001116619
NM_000126.4(ETFA):c.351+12G>A	SNV Germline	Chr15:76292419	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA1139664097	rs_2039773989	2 SubmittersRCV001118068
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)	SNV Germline	Chr4:158684600	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency ETFDH-related disorder	Criteria Provided Conflicting Classifications	CA3122354	rs_751256504	3 SubmittersRCV001148073 RCV003963089
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)	SNV Germline	Chr4:158695543	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA358560742	rs_1448673327	3 SubmittersRCV002275296 RCV001149621
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)	SNV Germline	Chr4:158706690	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3122655	rs_754795292	4 SubmittersRCV001147256 RCV001772343
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)	SNV Germline	Chr4:158706813	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA442139841	rs_1408118210	2 SubmittersRCV001147257
NM_004453.4(ETFDH):c.488-12A>C	SNV Germline	Chr4:158685089	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3122379	rs_180889150	2 SubmittersRCV001149619
NM_004453.4(ETFDH):c.972+13C>T	SNV Germline	Chr4:158697712	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3122511	rs_199589412	2 SubmittersRCV001149623
NM_004453.4(ETFDH):c.1117-11T>C	SNV Germline	Chr4:158703412	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA108817202	rs_917132143	2 SubmittersRCV001145312
NM_004453.4(ETFDH):c.769T>C (p.Tyr257His)	SNV Germline	Chr4:158695581	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358560856	rs_1441657866	1 SubmittersRCV001223416
NM_004453.4(ETFDH):c.487+1G>A	SNV Germline	Chr4:158684674	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358575213	rs_1444488601	1 SubmittersRCV001213999
NM_004453.4(ETFDH):c.176-2A>T	SNV Germline	Chr4:158682193	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA358573717	rs_1485038306	3 SubmittersRCV001219278 RCV001833902
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)	SNV Germline	Chr4:158697562	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA3122479	rs_754082348	3 SubmittersRCV001243666 RCV004690032
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys)	SNV Germline	Chr4:158706829	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA358565178	rs_1279728239	4 SubmittersRCV001246805 RCV002307709
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)	SNV Germline	Chr19:51353254	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA9610811	rs_187424345	2 SubmittersRCV001244975
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)	SNV Germline	Chr4:158680584	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA3122286	rs_534388496	7 SubmittersRCV001319011 RCV001836301 RCV003886502
NM_004453.4(ETFDH):c.405+3A>G	SNV Germline	Chr4:158682427	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided not specified ETFDH-related disorder	Criteria Provided Conflicting Classifications	CA789754125	rs_796051965	8 SubmittersRCV001329258 RCV001509240 RCV001844286 RCV004749658
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)	SNV Germline	Chr4:158695598	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA358560898	rs_1450977775	4 SubmittersRCV001329259 RCV004690081
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)	SNV Germline	Chr19:51353233	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia IIc not specified	Criteria Provided Conflicting Classifications	CA9610806	rs_758509148	3 SubmittersRCV001332069 RCV004035727 RCV005408837
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg)	SNV Germline	Chr4:158706236	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C not specified	Criteria Provided Conflicting Classifications	CA358563808	rs_1156517377	5 SubmittersRCV001362371 RCV001831229 RCV002469380
NM_004453.4(ETFDH):c.296G>A (p.Arg99His)	SNV Germline	Chr4:158682315	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3122316	rs_376630579	3 SubmittersRCV001378006 RCV001762662 RCV003323872
NM_004453.4(ETFDH):c.406-2A>G	SNV Germline	Chr4:158684590	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358574899	rs_2150306282	2 SubmittersRCV001379754
NM_004453.4(ETFDH):c.406-1G>A	SNV Germline	Chr4:158684591	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3122351	rs_750189181	3 SubmittersRCV001377957 RCV004728693
NM_004453.4(ETFDH):c.488-1G>T	SNV Germline	Chr4:158685100	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358575254	rs_2150306551	2 SubmittersRCV001377173
NM_004453.4(ETFDH):c.831+3A>C	SNV Germline	Chr4:158695646	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA2499217146	rs_1426349276	1 SubmittersRCV001377216
NM_004453.4(ETFDH):c.973-2A>G	SNV Germline	Chr4:158698985	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358561883	rs_2150312193	1 SubmittersRCV001376776
NM_004453.4(ETFDH):c.1415G>C (p.Gly472Ala)	SNV Germline	Chr4:158706318	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA3122618	rs_768181815	1 SubmittersRCV001379882
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)	SNV Germline	Chr4:158703533	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA358563000	rs_1200031596	4 SubmittersRCV001380775 RCV001831378
NM_004453.4(ETFDH):c.1285+2T>G	SNV Germline	Chr4:158703593	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358563130	rs_2126309523	1 SubmittersRCV001385003
NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr)	SNV Germline	Chr4:158706682	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA3122654	rs_751394068	1 SubmittersRCV001380776
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg)	SNV Germline	Chr4:158708436	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122718	rs_781498366	3 SubmittersRCV001380777
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)	SNV Germline	Chr15:76274435	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393510499	rs_757409121	1 SubmittersRCV001381065
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)	SNV Germline	Chr4:158690406	Likely pathogenic	Glutaric acidemia iic, late-onset Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358560019	rs_1482632936	4 SubmittersRCV001533540 RCV001882597
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr)	SNV Germline	Chr4:158706264	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA358563964	rs_2126314946	2 SubmittersRCV001564973 RCV002573190
NM_004453.4(ETFDH):c.920C>T (p.Ser307Phe)	SNV Germline	Chr4:158697647	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	No Assertion Criteria Provided	CA358561566	rs_769047475	1 SubmittersRCV001698889
NM_000126.4(ETFA):c.494T>C (p.Val165Ala)	SNV Germline	Chr15:76286439	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7673746	rs_749455172	2 SubmittersRCV001733357 RCV004571073
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr)	SNV Germline	Chr4:158695540	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA358560729	rs_1397900640	3 SubmittersRCV001762929 RCV002543945
NM_004453.4(ETFDH):c.226G>A (p.Ala76Thr)	SNV Germline	Chr4:158682245	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573941	rs_1430630684	1 SubmittersRCV001836609
NM_004453.4(ETFDH):c.1762C>T (p.His588Tyr)	SNV Germline	Chr4:158708435	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358566641	rs_1225042876	1 SubmittersRCV001988925
NM_004453.4(ETFDH):c.606+1G>A	SNV Germline	Chr4:158685220	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358575615	rs_1241072742	1 SubmittersRCV002034132
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys)	SNV Germline	Chr4:158699096	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358562315	rs_2150312299	2 SubmittersRCV001989535
NM_004453.4(ETFDH):c.1586A>G (p.His529Arg)	SNV Germline	Chr4:158706746	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA358564919	rs_2126316486	2 SubmittersRCV002013568 RCV003886547
NM_004453.4(ETFDH):c.152G>T (p.Arg51Leu)	SNV Germline	Chr4:158680584	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573535	rs_534388496	1 SubmittersRCV001963736
NM_004453.4(ETFDH):c.1811T>A (p.Val604Glu)	SNV Germline	Chr4:158708484	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358566893	rs_2126321188	1 SubmittersRCV002036726
NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter)	SNV Germline	Chr4:158682284	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358574074	rs_2150305196	1 SubmittersRCV001928266
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp)	SNV Germline	Chr4:158680583	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA3122285	rs_187248590	1 SubmittersRCV002028365
NM_004453.4(ETFDH):c.34+5G>C	SNV Germline	Chr4:158672495	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA555632560	rs_1373597092	2 SubmittersRCV001994257
NM_004453.4(ETFDH):c.806A>T (p.Gln269Leu)	SNV Germline	Chr4:158695618	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA3122447	rs_776320810	1 SubmittersRCV002000652
NM_004453.4(ETFDH):c.1099A>G (p.Asn367Asp)	SNV Germline	Chr4:158699113	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358562347	rs_2150312312	1 SubmittersRCV002000660
NM_004453.4(ETFDH):c.1366C>G (p.Pro456Ala)	SNV Germline	Chr4:158706269	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358563996	rs_751821289	1 SubmittersRCV001999050
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser)	SNV Germline	Chr4:158706826	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358565167	rs_2126316885	1 SubmittersRCV001938288
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile)	SNV Germline	Chr4:158699006	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA358561942	rs_2150312216	3 SubmittersRCV001935533 RCV003323953
NM_004453.4(ETFDH):c.607-1G>T	SNV Germline	Chr4:158690347	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA358559894	rs_760251231	3 SubmittersRCV001970838 RCV005614742
NM_004453.4(ETFDH):c.1001T>G (p.Leu334Arg)	SNV Germline	Chr4:158699015	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA358561972	rs_377686388	2 SubmittersRCV002012925 RCV005095516
NM_004453.4(ETFDH):c.350C>A (p.Ala117Asp)	SNV Germline	Chr4:158682369	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358574409	rs_1773884764	1 SubmittersRCV001995333
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr)	SNV Germline	Chr4:158706674	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3122650	rs_764164607	3 SubmittersRCV001976471 RCV004774578
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter)	SNV Germline	Chr4:158684649	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358575118	rs_549150456	1 SubmittersRCV002049210
NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly)	SNV Germline	Chr4:158706257	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358563929	rs_1580422659	1 SubmittersRCV001971135
NM_004453.4(ETFDH):c.405+1G>T	SNV Germline	Chr4:158682425	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358574556	rs_2150305321	1 SubmittersRCV001971199
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)	SNV Germline	Chr4:158706234	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA3122601	rs_760234838	3 SubmittersRCV001944614 RCV003487810
NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter)	SNV Germline	Chr4:158680530	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573389	rs_1169197181	1 SubmittersRCV001919576
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter)	SNV Germline	Chr4:158706336	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358564571	rs_2126315337	1 SubmittersRCV002035300
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)	SNV Germline	Chr4:158682270	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358574024	rs_1580396712	2 SubmittersRCV002035269
NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter)	SNV Germline	Chr4:158706281	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358564075	rs_989125087	1 SubmittersRCV001993214
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)	SNV Germline	Chr19:51346926	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA9610719	rs_772976948	5 SubmittersRCV001916076 RCV005409849
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)	SNV Germline	Chr19:51347007	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA9610733	rs_148045813	4 SubmittersRCV001939613 RCV004699584
NM_004453.4(ETFDH):c.1066G>A (p.Gly356Arg)	SNV Germline	Chr4:158699080	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA358562260	rs_2150312288	2 SubmittersRCV001995782 RCV005406249
NM_004453.4(ETFDH):c.1786G>A (p.Asp596Asn)	SNV Germline	Chr4:158708459	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358566765	rs_1165102742	2 SubmittersRCV001994364
NM_004453.4(ETFDH):c.152G>C (p.Arg51Pro)	SNV Germline	Chr4:158680584	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573534	rs_534388496	1 SubmittersRCV001980762
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp)	SNV Germline	Chr19:51353191	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA9610799	rs_748730384	2 SubmittersRCV001879069 RCV002274230
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly)	SNV Germline	Chr4:158697599	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358561364	rs_755907131	3 SubmittersRCV001941612
NM_004453.4(ETFDH):c.296G>C (p.Arg99Pro)	SNV Germline	Chr4:158682315	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358574194	rs_376630579	1 SubmittersRCV002017019
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter)	SNV Germline	Chr4:158708372	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358566355	rs_1774695889	1 SubmittersRCV001946803
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)	SNV Germline	Chr15:76295733	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2A	Criteria Provided Single Submitter	CA273700384	rs_1047426224	2 SubmittersRCV001951135 RCV005614738
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg)	SNV Germline	Chr4:158682399	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358574497	rs_121964956	1 SubmittersRCV001951158
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter)	SNV Germline	Chr4:158706298	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122615	rs_745714733	2 SubmittersRCV001946884
NM_000126.4(ETFA):c.186+1G>A	SNV Germline	Chr15:76295590	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA393517772	rs_2141543695	2 SubmittersRCV002036201
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)	SNV Germline	Chr4:158682288	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122310	rs_749085653	4 SubmittersRCV001970056
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter)	SNV Germline	Chr4:158699013	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358561965	rs_2150312228	1 SubmittersRCV001901387
NM_004453.4(ETFDH):c.1810G>A (p.Val604Met)	SNV Germline	Chr4:158708483	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358566887	rs_1436514087	1 SubmittersRCV002018369
NM_000126.4(ETFA):c.452-2A>G	SNV Germline	Chr15:76286483	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA393513975	rs_2141531787	2 SubmittersRCV002031943
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)	SNV Germline	Chr4:158682363	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358574392	rs_2150305273	2 SubmittersRCV001951472
NM_004453.4(ETFDH):c.169T>C (p.Trp57Arg)	SNV Germline	Chr4:158680601	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573592	rs_1773829495	1 SubmittersRCV002006312
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter)	SNV Germline	Chr4:158706242	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Single Submitter	CA358563849	rs_2126314844	2 SubmittersRCV001914838 RCV005614698
NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His)	SNV Germline	Chr4:158706817	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122680	rs_182913453	2 SubmittersRCV002027116
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)	SNV Germline	Chr4:158690393	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122424	rs_748289922	4 SubmittersRCV002038367
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg)	SNV Germline	Chr4:158708501	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358566944	rs_2126321296	1 SubmittersRCV002038411
NM_001985.3(ETFB):c.18G>C (p.Val6=)	SNV Germline	Chr19:51366309	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency ETFB-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA309746111	rs_572600030	3 SubmittersRCV002143936 RCV003895970 RCV005412380
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln)	SNV Germline	Chr4:158680554	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3122279	rs_150105001	4 SubmittersRCV002210294 RCV002261450 RCV004616985
NM_001376571.1(MADD):c.4109T>A (p.Leu1370Ter)	SNV Germline	Chr11:47309563	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	Criteria Provided Single Submitter	CA380360896	rs_2140853464	1 SubmittersRCV002273085
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)	SNV Germline	Chr4:158699088	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358562293	rs_2479121069	3 SubmittersRCV002283899
NM_004453.4(ETFDH):c.1690+2T>G	SNV Germline	Chr4:158706852	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency ETFDH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3122689	rs_767238539	3 SubmittersRCV002461618 RCV003103104 RCV003408283
NM_001985.3(ETFB):c.375+1G>T	SNV Germline	Chr19:51353131	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA407082351	rs_2514153018	2 SubmittersRCV002470034
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)	SNV Germline	Chr4:158706812	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358565115	rs_772351035	3 SubmittersRCV002471536
NM_001985.3(ETFB):c.375G>C (p.Gln125His)	SNV Germline	Chr19:51353132	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA407082354	rs_1173733121	1 SubmittersRCV003064593
NM_004453.4(ETFDH):c.1834C>A (p.Pro612Thr)	SNV Germline	Chr4:158708507	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358566957	rs_1774704452	1 SubmittersRCV003089794
NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe)	SNV Germline	Chr4:158684598	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA358574915	rs_1773952713	2 SubmittersRCV003061551 RCV003235766
NM_004453.4(ETFDH):c.1117-2A>G	SNV Germline	Chr4:158703421	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA108817210	rs_764060500	2 SubmittersRCV003079056
NM_004453.4(ETFDH):c.1142G>A (p.Gly381Asp)	SNV Germline	Chr4:158703448	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358562759	rs_1774519367	1 SubmittersRCV002603372
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln)	SNV Germline	Chr4:158706644	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA108819321	rs_759959904	2 SubmittersRCV002663952 RCV005567446
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)	SNV Germline	Chr4:158672459	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358572985	rs_1340862175	1 SubmittersRCV002651856
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser)	SNV Germline	Chr4:158684595	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA501142	rs_1773952432	1 SubmittersRCV002651857
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)	SNV Germline	Chr4:158690384	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122422	rs_755214552	3 SubmittersRCV002651858
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)	SNV Germline	Chr4:158706835	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA108819444	rs_186023896	2 SubmittersRCV002664352
NM_000126.4(ETFA):c.268+1G>A	SNV Germline	Chr15:76292618	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393517154	rs_1567218409	1 SubmittersRCV003104196
NM_004453.4(ETFDH):c.34+5G>A	SNV Germline	Chr4:158672495	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA2580071635	rs_1373597092	2 SubmittersRCV002627395
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)	SNV Germline	Chr19:51366325	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA9610965	rs_746888203	2 SubmittersRCV002765576
NM_004453.4(ETFDH):c.831+2T>G	SNV Germline	Chr4:158695645	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358560999	rs_150832878	1 SubmittersRCV002750611
NM_004453.4(ETFDH):c.1400G>A (p.Gly467Glu)	SNV Germline	Chr4:158706303	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358564494	rs_1404406222	1 SubmittersRCV002750721
NM_004453.4(ETFDH):c.897G>A (p.Leu299=)	SNV Germline	Chr4:158697624	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3122492	rs_764284379	2 SubmittersRCV002786581
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)	SNV Germline	Chr4:158703582	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358563107	rs_2476721678	2 SubmittersRCV002801684
NM_004453.4(ETFDH):c.1335G>C (p.Trp445Cys)	SNV Germline	Chr4:158706238	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358563823	rs_2476731972	1 SubmittersRCV002828184
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter)	SNV Germline	Chr4:158680604	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573610	rs_1473188524	1 SubmittersRCV002830247
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter)	SNV Germline	Chr19:51347043	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA407081285	rs_2514144323	1 SubmittersRCV002885076
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)	SNV Germline	Chr15:76286377	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393513341	rs_2543023391	1 SubmittersRCV002862723
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)	SNV Germline	Chr4:158708384	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3122706	rs_370159889	3 SubmittersRCV002941867 RCV003320904 RCV004617119
NM_004453.4(ETFDH):c.379C>T (p.Leu127Phe)	SNV Germline	Chr4:158682398	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358574496	rs_1466275942	1 SubmittersRCV002928699
NM_000126.4(ETFA):c.352-2A>G	SNV Germline	Chr15:76287947	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393515484	rs_2543025251	1 SubmittersRCV002982147
NM_001985.3(ETFB):c.375+1G>A	SNV Germline	Chr19:51353131	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA407082349	rs_2514153018	2 SubmittersRCV002976143
NM_004453.4(ETFDH):c.1587T>G (p.His529Gln)	SNV Germline	Chr4:158706747	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358564922	rs_2476735533	1 SubmittersRCV003026766
NM_004453.4(ETFDH):c.1210A>C (p.Met404Leu)	SNV Germline	Chr4:158703516	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358562959	rs_2476721217	1 SubmittersRCV003043185
NM_000126.4(ETFA):c.242A>C (p.His81Pro)	SNV Germline	Chr15:76292645	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA273699474	rs_972293793	2 SubmittersRCV003140452
NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)	SNV Germline	Chr4:158708504	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency ETFDH-related disorder Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA358566950	rs_1774704214	4 SubmittersRCV003388383 RCV003397028 RCV005616635
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)	SNV Germline	Chr4:158682264	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency not specified ETFDH-related disorder	Criteria Provided Conflicting Classifications	CA108848785	rs_887871605	3 SubmittersRCV003475572 RCV003388535 RCV003420682
NM_001985.3(ETFB):c.439-8C>T	SNV Germline	Chr19:51347066	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA2695199922	rs_2514144391	2 SubmittersRCV003415397 RCV005100051
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)	SNV Unknown	Chr15:76292694	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393517447	rs_1297718024	1 SubmittersRCV003475599
NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)	SNV Unknown	Chr15:76287932	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA7673775	rs_773865838	1 SubmittersRCV003475600
NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)	SNV Unknown	Chr15:76292649	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393517275	rs_2543032548	1 SubmittersRCV003475601
NM_000126.4(ETFA):c.268+1G>C	SNV Unknown	Chr15:76292618	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393517155	rs_1567218409	1 SubmittersRCV003475604
NM_000126.4(ETFA):c.665-1G>A	SNV Germline	Chr15:76283826	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA393512772	rs_2543020089	2 SubmittersRCV003475608
NM_000126.4(ETFA):c.451+1G>A	SNV Germline	Chr15:76287845	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7673763	rs_780367967	2 SubmittersRCV003475610
NM_001985.3(ETFB):c.163A>T (p.Lys55Ter)	SNV Unknown	Chr19:51354203	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA407083166	rs_2514155556	1 SubmittersRCV003476352
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)	SNV Germline	Chr19:51350361	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA407081943	rs_1985903483	2 SubmittersRCV003476353
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)	SNV Germline	Chr19:51354305	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA9610876	rs_374288379	2 SubmittersRCV003476354
NM_001985.3(ETFB):c.375+1G>C	SNV Unknown	Chr19:51353131	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA407082352	rs_2514153018	1 SubmittersRCV003476355
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)	SNV Germline	Chr19:51354242	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA9610859	rs_774387920	3 SubmittersRCV003476359
NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser)	SNV Unknown	Chr4:158706357	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358564624	rs_2476733074	1 SubmittersRCV003476363
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)	SNV Germline	Chr4:158697647	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358561568	rs_769047475	2 SubmittersRCV003476364
NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)	SNV Unknown	Chr4:158703580	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358563102	rs_2476721663	1 SubmittersRCV003476366
NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter)	SNV Unknown	Chr4:158708390	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358566436	rs_2476741210	1 SubmittersRCV003476369
NM_004453.4(ETFDH):c.607-1G>A	SNV Germline	Chr4:158690347	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122412	rs_760251231	2 SubmittersRCV003476370
NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)	SNV Unknown	Chr4:158699012	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA3122534	rs_781531865	1 SubmittersRCV003476372
NM_004453.4(ETFDH):c.685-1G>A	SNV Germline	Chr4:158695496	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358560532	rs_2479110961	2 SubmittersRCV003476373
NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)	SNV Unknown	Chr4:158680536	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573406	rs_2479076127	1 SubmittersRCV003476378
NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter)	SNV Unknown	Chr4:158708468	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358566808	rs_2476741563	1 SubmittersRCV003476379
NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro)	SNV Unknown	Chr4:158682263	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358574003	rs_2479080250	1 SubmittersRCV003476380
NM_004453.4(ETFDH):c.606+1G>T	SNV Unknown	Chr4:158685220	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358575617	rs_1241072742	1 SubmittersRCV003476381
NM_004453.4(ETFDH):c.299T>A (p.Val100Glu)	SNV Unknown	Chr4:158682318	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358574203	rs_2479080515	1 SubmittersRCV003476382
NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter)	SNV Unknown	Chr4:158682412	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358574522	rs_1292908960	1 SubmittersRCV003476383
NM_004453.4(ETFDH):c.1691-3C>G	SNV Germline	Chr4:158708361	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Single Submitter	CA3122701	rs_776853600	2 SubmittersRCV003476384 RCV005616641
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)	SNV Germline	Chr4:158684616	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358574986	rs_2479086062	2 SubmittersRCV003476385
NM_004453.4(ETFDH):c.175+2T>C	SNV Unknown	Chr4:158680609	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573634	rs_2479076416	1 SubmittersRCV003476389
NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter)	SNV Unknown	Chr4:158680602	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573595	rs_1232214003	1 SubmittersRCV003476393
NM_004453.4(ETFDH):c.831+1G>A	SNV Unknown	Chr4:158695644	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358560995	rs_2479111562	1 SubmittersRCV003476394
NM_004453.4(ETFDH):c.34+1G>A	SNV Unknown	Chr4:158672491	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573044	rs_2479057315	1 SubmittersRCV003476396
NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys)	SNV Unknown	Chr4:158695548	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358560762	rs_2479111092	1 SubmittersRCV003476398
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)	SNV Germline	Chr4:158708372	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA358566351	rs_1774695889	2 SubmittersRCV003467945
NM_004453.4(ETFDH):c.508G>T (p.Gly170Cys)	SNV Germline	Chr4:158685121	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3122383	rs_775548362	2 SubmittersRCV003479669 RCV004574051
NM_000126.4(ETFA):c.817-2A>G	SNV Germline	Chr15:76231400	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393516072	rs_2542969762	1 SubmittersRCV003512928
NM_000126.4(ETFA):c.39+1G>T	SNV Germline	Chr15:76311349	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393519502	rs_2543051746	1 SubmittersRCV003513097
NM_004453.4(ETFDH):c.832-1G>A	SNV Germline	Chr4:158697558	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358561173	rs_1291408658	1 SubmittersRCV003513596
NM_004453.4(ETFDH):c.916G>T (p.Gly306Ter)	SNV Germline	Chr4:158697643	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358561554	rs_761008371	1 SubmittersRCV003511555
NM_004453.4(ETFDH):c.3G>T (p.Met1Ile)	SNV Germline	Chr4:158672459	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358572986	rs_1340862175	1 SubmittersRCV003511612
NM_000126.4(ETFA):c.39+1G>A	SNV Germline	Chr15:76311349	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA393519504	rs_2543051746	2 SubmittersRCV003511830
NM_004453.4(ETFDH):c.1659T>G (p.Tyr553Ter)	SNV Germline	Chr4:158706819	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358565140	rs_1333454413	1 SubmittersRCV003512646
NM_004453.4(ETFDH):c.607-2A>G	SNV Germline	Chr4:158690346	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358559891	rs_2479100223	1 SubmittersRCV003512748
NM_000126.4(ETFA):c.269-2A>G	SNV Germline	Chr15:76292515	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393517142	rs_2543032349	1 SubmittersRCV003512741
NM_004453.4(ETFDH):c.1210A>T (p.Met404Leu)	SNV Germline	Chr4:158703516	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358562961	rs_2476721217	1 SubmittersRCV003512665
NM_000126.4(ETFA):c.351+1G>A	SNV Germline	Chr15:76292430	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393516623	rs_2543032160	1 SubmittersRCV003512715
NM_001985.3(ETFB):c.439-1G>A	SNV Germline	Chr19:51347059	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA407081349	rs_2514144368	1 SubmittersRCV003624634
NM_004453.4(ETFDH):c.1428G>A (p.Trp476Ter)	SNV Germline	Chr4:158706331	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358564559	rs_1374116117	1 SubmittersRCV003624575
NM_001985.3(ETFB):c.216+1G>C	SNV Germline	Chr19:51354149	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA9610834	rs_781748603	1 SubmittersRCV003624540
NM_004453.4(ETFDH):c.487+2T>A	SNV Germline	Chr4:158684675	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358575218	rs_2479086315	1 SubmittersRCV003624777
NM_004453.4(ETFDH):c.1781T>C (p.Ile594Thr)	SNV Germline	Chr4:158708454	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA3122723	rs_770051042	1 SubmittersRCV003624807
NM_004453.4(ETFDH):c.725C>T (p.Thr242Ile)	SNV Germline	Chr4:158695537	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA3122443	rs_777646291	1 SubmittersRCV003624697
NM_000126.4(ETFA):c.352-1G>A	SNV Germline	Chr15:76287946	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393515470	rs_2543025247	1 SubmittersRCV003625195
NM_004453.4(ETFDH):c.577G>T (p.Glu193Ter)	SNV Germline	Chr4:158685190	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358575551	rs_1773973345	1 SubmittersRCV003625323
NM_004453.4(ETFDH):c.487+2T>G	SNV Germline	Chr4:158684675	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358575222	rs_2479086315	1 SubmittersRCV003625703
NM_004453.4(ETFDH):c.176-1G>A	SNV Germline	Chr4:158682194	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358573726	rs_2479080011	1 SubmittersRCV003625705
NM_000126.4(ETFA):c.734-2A>G	SNV Germline	Chr15:76274496	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393511120	rs_2543011317	1 SubmittersRCV003625606
NM_000126.4(ETFA):c.351+2T>C	SNV Germline	Chr15:76292429	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393516617	rs_2543032159	1 SubmittersRCV003623931
NM_004453.4(ETFDH):c.1270C>T (p.Gln424Ter)	SNV Germline	Chr4:158703576	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA358563093	rs_2476721648	1 SubmittersRCV003624041
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)	SNV Germline	Chr15:76285704	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA393513242	rs_2543022350	1 SubmittersRCV003624218
NM_004453.4(ETFDH):c.488-6T>C	SNV Germline	Chr4:158685095	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3122381	rs_746105363	2 SubmittersRCV003823323
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)	SNV Germline	Chr19:51354188	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA407083102	rs_1193726585	2 SubmittersRCV003857880
NM_004453.4(ETFDH):c.679C>T (p.Pro227Ser)	SNV Germline	Chr4:158690420	Conflicting classifications of pathogenicity	ETFDH-related disorder not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA108807371	rs_141407224	3 SubmittersRCV004750476 RCV004527226 RCV005038705
NM_000126.4(ETFA):c.465T>A (p.Cys155Ter)	SNV Unknown	Chr15:76286468	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1239955378	1 SubmittersRCV004576398
NM_000126.4(ETFA):c.451+1G>T	SNV Unknown	Chr15:76287845	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_780367967	1 SubmittersRCV004576400
NM_001985.3(ETFB):c.376-2A>C	SNV Unknown	Chr19:51350393	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1568466685	1 SubmittersRCV004576402
NM_004453.4(ETFDH):c.1083C>G (p.Tyr361Ter)	SNV Unknown	Chr4:158699097	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_765063539	1 SubmittersRCV004576404
NM_004453.4(ETFDH):c.1750C>T (p.Gln584Ter)	SNV Unknown	Chr4:158708423	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2476741382	1 SubmittersRCV004576406
NM_004453.4(ETFDH):c.890G>A (p.Trp297Ter)	SNV Unknown	Chr4:158697617	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2479116902	1 SubmittersRCV004576407
NM_004453.4(ETFDH):c.528G>C (p.Leu176Phe)	SNV Germline	Chr4:158685141	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Single Submitter		rs_2479087993	2 SubmittersRCV004576411 RCV005618361
NM_004453.4(ETFDH):c.1427G>A (p.Trp476Ter)	SNV Unknown	Chr4:158706330	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1281406250	1 SubmittersRCV004576414
NM_004453.4(ETFDH):c.521T>C (p.Val174Ala)	SNV Unknown	Chr4:158685134	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1244950045	1 SubmittersRCV004576416
NM_004453.4(ETFDH):c.578A>C (p.Glu193Ala)	SNV Germline	Chr4:158685191	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1287661192	2 SubmittersRCV004586261 RCV005038729
NM_004453.4(ETFDH):c.1448C>A (p.Pro483Gln)	SNV Germline	Chr4:158706351	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV004689547 RCV005023643
NM_000126.4(ETFA):c.964-1G>A	SNV Germline	Chr15:76216598	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004732510
NM_004453.4(ETFDH):c.587C>A (p.Pro196His)	SNV Germline	Chr4:158685200	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004782084
NM_004453.4(ETFDH):c.891G>A (p.Trp297Ter)	SNV Germline	Chr4:158697618	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004819955
NM_000126.4(ETFA):c.562+1G>T	SNV Germline	Chr15:76286370	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005003208
NM_000126.4(ETFA):c.1A>G (p.Met1Val)	SNV Germline	Chr15:76311388	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005003211
NM_001985.3(ETFB):c.694C>T (p.Gln232Ter)	SNV Germline	Chr19:51345285	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005015862
NM_001985.3(ETFB):c.216+2T>C	SNV Germline	Chr19:51354148	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005015864
NM_001985.3(ETFB):c.214C>T (p.Gln72Ter)	SNV Germline	Chr19:51354152	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005015865
NM_004453.4(ETFDH):c.684G>T (p.Lys228Asn)	SNV Germline	Chr4:158690425	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005039048
NM_004453.4(ETFDH):c.684+2T>C	SNV Germline	Chr4:158690427	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005039049
NM_004453.4(ETFDH):c.1690+1G>C	SNV Germline	Chr4:158706851	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005039053
NM_004453.4(ETFDH):c.1842C>A (p.Tyr614Ter)	SNV Germline	Chr4:158708515	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005066734
NM_004453.4(ETFDH):c.392G>A (p.Trp131Ter)	SNV Germline	Chr4:158682411	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005115215
NM_004453.4(ETFDH):c.607-1G>C	SNV Germline	Chr4:158690347	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005108119
NM_004453.4(ETFDH):c.694G>T (p.Glu232Ter)	SNV Germline	Chr4:158695506	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005120351
NM_004453.4(ETFDH):c.813C>A (p.Tyr271Ter)	SNV Germline	Chr4:158695625	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005135269
NM_004453.4(ETFDH):c.34+2T>A	SNV Germline	Chr4:158672492	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005148982
NM_004453.4(ETFDH):c.405+1G>A	SNV Germline	Chr4:158682425	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005200469
NM_004453.4(ETFDH):c.1469-1G>A	SNV Germline	Chr4:158706628	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005208463
NM_004453.4(ETFDH):c.236C>G (p.Ala79Gly)	SNV Germline	Chr4:158682255	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005409559
NM_004453.4(ETFDH):c.1204A>G (p.Thr402Ala)	SNV Unknown	Chr4:158703510	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005626107

NM_000126.4(ETFA):c.470T>G (p.Val157Gly)

SNV
Germline

Chr15:76286463

Pathogenic/Likely pathogenic

Glutaric acidemia IIa
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA115637

rs_119458969

4 SubmittersRCV000002711 RCV002281690

NM_000126.4(ETFA):c.797C>T (p.Thr266Met)

SNV
Germline

Chr15:76274431

Pathogenic

Glutaric acidemia IIa
Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
ETFA-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA115638

rs_119458970

13 SubmittersRCV000002712 RCV000185868 RCV000332032 RCV003904798 RCV005549903

NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)

SNV
Germline

Chr15:76292436

Likely pathogenic

Glutaric acidemia IIa
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA115639

rs_119458971

2 SubmittersRCV000002713 RCV003472959

NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)

SNV
Germline

Chr4:158672458

Pathogenic

Glutaric acidemia IIc
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA121815

rs_121964953

2 SubmittersRCV000012806 RCV002512993

NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)

SNV
Germline

Chr4:158682269

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia IIc
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA121817

rs_121964954

13 SubmittersRCV000553294 RCV000012808 RCV000224728 RCV003231099

NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu)

SNV
Germline

Chr4:158685137

Pathogenic

Glutaric acidemia IIc
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA121819

rs_121964955

3 SubmittersRCV000012809 RCV002512994

NM_004453.4(ETFDH):c.380T>A (p.Leu127His)

SNV
Germline

Chr4:158682399

Pathogenic/Likely pathogenic

Glutaric acidemia IIc
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA121821

rs_121964956

5 SubmittersRCV000012810 RCV000721976

NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)

SNV
Germline

Chr19:51347006

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia IIb
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA126841

rs_104894677

4 SubmittersRCV001235936 RCV000018200 RCV005409601

NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)

SNV
Germline

Chr19:51350385

Conflicting classifications of pathogenicity

Glutaric acidemia IIb
Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA126842

rs_104894678

5 SubmittersRCV000018202 RCV002513095 RCV004525856

NM_004453.4(ETFDH):c.524G>A (p.Arg175His)

SNV
Germline

Chr4:158685137

Pathogenic/Likely pathogenic

Glutaric acidemia IIc
Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129815

rs_121964955

7 SubmittersRCV000024282 RCV001216553 RCV001826506 RCV004589522

NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)

SNV
Germline

Chr4:158703436

Pathogenic/Likely pathogenic

Glutaric acidemia iic, late-onset
Inborn genetic diseases
Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA129834

rs_387907170

11 SubmittersRCV000024305 RCV000210651 RCV000578325 RCV001831605

NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)

SNV
Germline

Chr4:158706351

Pathogenic/Likely pathogenic

Glutaric acidemia iic, late-onset
Multiple acyl-CoA dehydrogenase deficiency
Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II
Glutaric acidemia type 2C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129836

rs_377656387

10 SubmittersRCV000024306 RCV000634896 RCV001250164 RCV001831606 RCV002054473

NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)

SNV
Germline

Chr4:158703540

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA222708

rs_398124151

6 SubmittersRCV000081076 RCV000173803

NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)

SNV
Germline

Chr4:158706270

Pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA285628

rs_398124152

10 SubmittersRCV000081077 RCV000174102

NM_004453.4(ETFDH):c.832-10T>G

SNV
Germline

Chr4:158697549

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ETFDH-related disorder
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA290771

rs_200911913

5 SubmittersRCV000124918 RCV000676845 RCV003935187 RCV001079915

NM_000126.4(ETFA):c.2T>C (p.Met1Thr)

SNV
Germline

Chr15:76311387

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA295613

rs_727503918

5 SubmittersRCV000153198 RCV000324694

NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)

SNV
Germline

Chr4:158680511

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA233953

rs_537038850

7 SubmittersRCV000153200 RCV000392257 RCV001831952

NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)

SNV
Germline

Chr4:158706691

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA239854

rs_780768015

6 SubmittersRCV000174333 RCV000275519

NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)

SNV
Germline

Chr4:158699015

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
Glutaric acidemia type 2C
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA346892

rs_377686388

8 SubmittersRCV000180601 RCV000723385 RCV001826924 RCV004975312

NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala)

SNV
Germline

Chr4:158680523

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA312521

rs_182144074

3 SubmittersRCV000185888 RCV000297924 RCV004975313

NM_004453.4(ETFDH):c.175+1G>C

SNV
Germline

Chr4:158680608

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312551

rs_796051961

2 SubmittersRCV000185903 RCV005031723

NM_004453.4(ETFDH):c.380T>C (p.Leu127Pro)

SNV
Germline

Chr4:158682399

Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312523

rs_121964956

2 SubmittersRCV000185889 RCV005089931

NM_004453.4(ETFDH):c.405+3A>T

SNV
Germline

Chr4:158682427

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312555

rs_796051965

4 SubmittersRCV000185907 RCV000809835

NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)

SNV
Germline

Chr4:158685185

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
Hypertrophic cardiomyopathy
ETFDH-related disorder

Criteria Provided
Conflicting Classifications

CA312529

rs_147219158

6 SubmittersRCV000185892 RCV001079922 RCV001199401 RCV003937656

NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)

SNV
Germline

Chr4:158695545

Conflicting classifications of pathogenicity

not specified
Glutaric acidemia type 2C
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312531

rs_371260517

4 SubmittersRCV000185893 RCV001827992 RCV002517823

NM_004453.4(ETFDH):c.929A>G (p.Tyr310Cys)

SNV
Germline

Chr4:158697656

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA312535

rs_796051958

3 SubmittersRCV000185895 RCV004796079 RCV005237678

NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys)

SNV
Germline

Chr4:158699087

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312539

rs_796051959

2 SubmittersRCV000185897 RCV002478652

NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)

SNV
Germline

Chr4:158699093

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA312541

rs_776428695

3 SubmittersRCV000185898 RCV002516968 RCV002282017

NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)

SNV
Germline

Chr4:158706254

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA312543

rs_558005496

6 SubmittersRCV001053110 RCV004791312

NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)

SNV
Germline

Chr4:158706278

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312545

rs_200111698

5 SubmittersRCV000185900 RCV000660476

NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter)

SNV
Germline

Chr4:158708482

Pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312547

rs_796051960

2 SubmittersRCV000185901 RCV003474942

NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)

SNV
Germline

Chr4:158708525

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312549

rs_765742496

2 SubmittersRCV002047712

NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)

SNV
Germline

Chr15:76231389

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
ETFA-related disorder

Criteria Provided
Conflicting Classifications

CA312487

rs_141200145

8 SubmittersRCV000185869 RCV000527908 RCV003977491

NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)

SNV
Germline

Chr15:76286400

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
ETFA-related disorder

Criteria Provided
Conflicting Classifications

CA312477

rs_140169311

6 SubmittersRCV000320514 RCV000726964 RCV003917703

NM_000126.4(ETFA):c.186+7A>G

SNV
Germline

Chr15:76295584

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
Glutaric acidemia type 2A

Criteria Provided
Conflicting Classifications

CA312476

rs_184587113

7 SubmittersRCV000185862 RCV000323787 RCV000676980 RCV001833109

NM_001985.3(ETFB):c.709G>A (p.Val237Ile)

SNV
Germline

Chr19:51345270

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA312500

rs_149129214

5 SubmittersRCV000416208 RCV000809414 RCV002516967

NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)

SNV
Germline

Chr19:51353215

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
Chronic kidney disease
ETFB-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA312494

rs_147353781

7 SubmittersRCV000185874 RCV000658852 RCV001086047 RCV001171332 RCV003907648 RCV005328224

NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)

SNV
Germline

Chr19:51353229

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA312492

rs_139519507

6 SubmittersRCV000415826 RCV000814061 RCV002517821

NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)

SNV
Germline

Chr19:51353275

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA312506

rs_548046212

3 SubmittersRCV000185880 RCV002513954 RCV002222436

NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro)

SNV
Germline

Chr4:158706647

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351297

rs_863224869

3 SubmittersRCV001381020

NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)

SNV
Germline

Chr1:154992746

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Myopathy with abnormal lipid metabolism
Condition: not provided
FLAD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1134629

rs_771466122

6 SubmittersRCV000223948 RCV000234835 RCV000521126 RCV003407734

NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter)

SNV
Germline

Chr4:158680589

Pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10581271

rs_878853006

2 SubmittersRCV000224742 RCV003624410

NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)

SNV
Germline

Chr4:158684648

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10581378

rs_878853082

4 SubmittersRCV000224819 RCV002519760

NM_000126.4(ETFA):c.442A>G (p.Ile148Val)

SNV
Germline

Chr15:76287855

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2A

Criteria Provided
Conflicting Classifications

CA7673764

rs_199673198

3 SubmittersRCV000224700 RCV001081384 RCV001272688

NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)

SNV
Germline

Chr4:158708505

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric acidemia type 2C
Multiple acyl-CoA dehydrogenase deficiency
ETFDH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3122732

rs_761669036

6 SubmittersRCV000255489 RCV001833298 RCV001069003 RCV004748682

NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)

SNV
Germline

Chr15:76285676

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7673697

rs_199763682

4 SubmittersRCV000254926 RCV001228210

NM_000126.4(ETFA):c.6C>T (p.Phe2=)

SNV
Germline

Chr15:76311383

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
Glutaric acidemia type 2A

Criteria Provided
Conflicting Classifications

CA7673900

rs_749929239

4 SubmittersRCV000341012 RCV001079275 RCV000725409 RCV001272689

NM_004453.4(ETFDH):c.63T>C (p.Ile21=)

SNV
Germline

Chr4:158680495

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3122276

rs_566605780

4 SubmittersRCV000341906 RCV004584692

NM_004453.4(ETFDH):c.1116+7C>T

SNV
Germline

Chr4:158699137

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3122550

rs_748640706

3 SubmittersRCV000301497

NM_004453.4(ETFDH):c.12G>A (p.Pro4=)

SNV
Germline

Chr4:158672468

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Conflicting Classifications

CA3122251

rs_373776053

3 SubmittersRCV000284618 RCV001833469

NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)

SNV
Germline

Chr4:158680574

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3122283

rs_201823591

2 SubmittersRCV000392282

NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)

SNV
Germline

Chr4:158706269

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3122610

rs_751821289

7 SubmittersRCV000763116 RCV000415983

NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)

SNV
Germline

Chr4:158706678

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3122652

rs_146882697

3 SubmittersRCV001145314 RCV001703659

NM_000126.4(ETFA):c.-42C>T

SNV
Germline

Chr15:76311430

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA16606783

rs_546128998

2 SubmittersRCV000432359 RCV001119611

NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)

SNV
Germline

Chr4:158685136

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3122387

rs_762928354

3 SubmittersRCV000485144 RCV002525759

NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)

SNV
Germline

Chr4:158685173

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3122394

rs_369912835

3 SubmittersRCV000479281 RCV001865424

NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)

SNV
Germline

Chr4:158706761

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122669

rs_200920510

5 SubmittersRCV000483304 RCV000818859

NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)

SNV
Germline

Chr4:158684649

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA108850123

rs_549150456

6 SubmittersRCV000489467 RCV000987487

NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)

SNV
Germline

Chr4:158699033

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA358562056

rs_1131691336

3 SubmittersRCV000493889 RCV001856959 RCV002282174

NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)

SNV
Germline

Chr15:76283823

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
Glutaric acidemia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA7673658

rs_769976586

7 SubmittersRCV000779174 RCV000493941 RCV001829411

NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)

SNV
Germline

Chr4:158684599

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA3122353

rs_779896449

6 SubmittersRCV000498882 RCV000763115 RCV001266160

NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)

SNV
Germline

Chr4:158699098

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C
ETFDH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3122544

rs_369711837

5 SubmittersRCV000539322 RCV001829570 RCV003419931

NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)

SNV
Germline

Chr4:158706317

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C
Condition: not provided
Glutaric acidemia IIc

Criteria Provided
Multiple Submitters
No Conflicts

CA3122617

rs_746598421

7 SubmittersRCV000554634 RCV001834766 RCV004592560 RCV004798842

NM_004453.4(ETFDH):c.488-9T>C

SNV
Germline

Chr4:158685092

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C
not specified

Criteria Provided
Conflicting Classifications

CA658657406

rs_1554031705

3 SubmittersRCV000543533 RCV001829571 RCV005431741

NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)

SNV
Germline

Chr4:158690420

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3122427

rs_141407224

5 SubmittersRCV000558221 RCV004808752

NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)

SNV
Germline

Chr19:51346920

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9610716

rs_200186078

3 SubmittersRCV000540682 RCV001551094

NM_000126.4(ETFA):c.882+5T>C

SNV
Germline

Chr15:76231328

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7673586

rs_377259058

2 SubmittersRCV000605516 RCV001860309

NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)

SNV
Germline

Chr4:158703447

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358562756

rs_1466787789

2 SubmittersRCV000625637

NM_004453.4(ETFDH):c.1690+1G>T

SNV
Germline

Chr4:158706851

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA108819497

rs_917285990

3 SubmittersRCV000634895

NM_004453.4(ETFDH):c.1285+1G>A

SNV
Germline

Chr4:158703592

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3122581

rs_767046886

3 SubmittersRCV000634893 RCV001835015

NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)

SNV
Germline

Chr4:158680553

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Abnormality of metabolism/homeostasis
ETFDH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3122278

rs_773668457

6 SubmittersRCV000699705 RCV001814220 RCV004748909

NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)

SNV
Germline

Chr4:158672490

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358573042

rs_1172887273

3 SubmittersRCV000699613 RCV001577644

NM_004453.4(ETFDH):c.807A>C (p.Gln269His)

SNV
Germline

Chr4:158695619

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C
Glutaric acidemia IIc

Criteria Provided
Conflicting Classifications

CA358560944

rs_1265381182

3 SubmittersRCV000685445 RCV001829892 RCV004798855

NM_004453.4(ETFDH):c.831+4T>C

SNV
Germline

Chr4:158695647

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3122455

rs_752971257

3 SubmittersRCV000698477 RCV001585642 RCV002534358

NM_001985.3(ETFB):c.565G>A (p.Glu189Lys)

SNV
Germline

Chr19:51346932

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9610720

rs_376065198

2 SubmittersRCV000691202 RCV001551852

NM_004453.4(ETFDH):c.1469-1G>T

SNV
Germline

Chr4:158706628

Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358564668

rs_1561251640

2 SubmittersRCV000722270 RCV001868918

NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)

SNV
Germline

Chr4:158706291

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA358564115

rs_1561251388

5 SubmittersRCV000723006 RCV000987490

NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)

SNV
Germline

Chr4:158685158

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3122390

rs_767249944

3 SubmittersRCV000778725 RCV001830667

NM_004453.4(ETFDH):c.1116+2T>C

SNV
Germline

Chr4:158699132

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358562393

rs_1561247874

1 SubmittersRCV000778726

NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)

SNV
Germline

Chr4:158682408

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122330

rs_199899494

5 SubmittersRCV000813251

NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)

SNV
Germline

Chr4:158695582

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3122444

rs_780015493

10 SubmittersRCV000824611 RCV004702465

NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)

SNV
Germline

Chr4:158703517

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122571

rs_779253471

6 SubmittersRCV000799942

NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter)

SNV
Germline

Chr4:158706277

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358564051

rs_1580422708

1 SubmittersRCV000806807

NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)

SNV
Germline

Chr15:76295725

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA7673866

rs_754202690

7 SubmittersRCV000824641 RCV001564261 RCV002538204

NM_004453.4(ETFDH):c.973-1G>A

SNV
Germline

Chr4:158698986

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358561887

rs_1580415323

1 SubmittersRCV000811062

NM_001985.3(ETFB):c.452C>T (p.Ser151Phe)

SNV
Germline

Chr19:51347045

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9610740

rs_74735908

2 SubmittersRCV000864900 RCV002245716

NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)

SNV
Germline

Chr4:158699063

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
ETFDH-related disorder

Criteria Provided
Conflicting Classifications

CA3122541

rs_139306043

8 SubmittersRCV000879649 RCV001731970 RCV003908392

NM_000126.4(ETFA):c.720A>G (p.Gln240=)

SNV
Germline

Chr15:76283770

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7673648

rs_756864231

2 SubmittersRCV000982193

NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)

SNV
Germline

Chr15:76311382

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

No Assertion Criteria Provided

CA393519620

rs_1475984278

1 SubmittersRCV000985194

NM_001985.3(ETFB):c.58-57C>T

SNV
Germline

Chr19:51354365

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

No Assertion Criteria Provided

CA9610888

rs_766066977

1 SubmittersRCV000985168

NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)

SNV
Germline

Chr1:154988477

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
Myopathy with abnormal lipid metabolism

Criteria Provided
Multiple Submitters
No Conflicts

CA1134389

rs_199979286

3 SubmittersRCV000986423 RCV001382523 RCV004689943

NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)

SNV
Germline

Chr4:158682314

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia IIc
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3122315

rs_371493232

6 SubmittersRCV000987486 RCV002255101 RCV001832301

NM_004453.4(ETFDH):c.684+2T>G

SNV
Germline

Chr4:158690427

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358560069

rs_1580406119

2 SubmittersRCV000987488

NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)

SNV
Germline

Chr4:158699120

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA358562365

rs_754418186

4 SubmittersRCV000987489 RCV002222651

NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser)

SNV
Unknown

Chr4:158706707

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358564837

rs_1580423432

1 SubmittersRCV000987491

NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)

SNV
Germline

Chr4:158695626

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3122450

rs_763541530

6 SubmittersRCV001051962 RCV001545243

NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)

SNV
Germline

Chr4:158697585

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358561301

rs_1235904433

2 SubmittersRCV001068689

NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser)

SNV
Germline

Chr4:158697619

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358561453

rs_1774344831

1 SubmittersRCV001035118

NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg)

SNV
Germline

Chr4:158706302

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358564492

rs_1174882036

2 SubmittersRCV001069265

NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)

SNV
Germline

Chr4:158706353

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA358564612

rs_1774616485

3 SubmittersRCV001050937 RCV001827320

NM_004453.4(ETFDH):c.1117-1G>A

SNV
Germline

Chr4:158703422

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358562669

rs_1774518252

2 SubmittersRCV001040654

NM_000126.4(ETFA):c.664+1G>A

SNV
Germline

Chr15:76285636

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393513105

rs_2039698086

1 SubmittersRCV001069226

NM_000126.4(ETFA):c.366A>G (p.Arg122=)

SNV
Germline

Chr15:76287931

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA491328127

rs_2039718120

2 SubmittersRCV001118067

NM_000126.4(ETFA):c.78T>C (p.Ala26=)

SNV
Germline

Chr15:76295699

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7673863

rs_773298687

2 SubmittersRCV001118070

NM_000126.4(ETFA):c.66C>T (p.Thr22=)

SNV
Germline

Chr15:76295711

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
ETFA-related disorder

Criteria Provided
Conflicting Classifications

CA7673864

rs_370375322

3 SubmittersRCV001118071 RCV003898113

NM_000126.4(ETFA):c.882+10C>T

SNV
Germline

Chr15:76231323

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA645592038

rs_2039064081

2 SubmittersRCV001116619

NM_000126.4(ETFA):c.351+12G>A

SNV
Germline

Chr15:76292419

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA1139664097

rs_2039773989

2 SubmittersRCV001118068

NM_004453.4(ETFDH):c.414T>G (p.Leu138=)

SNV
Germline

Chr4:158684600

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
ETFDH-related disorder

Criteria Provided
Conflicting Classifications

CA3122354

rs_751256504

3 SubmittersRCV001148073 RCV003963089

NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)

SNV
Germline

Chr4:158695543

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA358560742

rs_1448673327

3 SubmittersRCV002275296 RCV001149621

NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)

SNV
Germline

Chr4:158706690

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3122655

rs_754795292

4 SubmittersRCV001147256 RCV001772343

NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)

SNV
Germline

Chr4:158706813

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA442139841

rs_1408118210

2 SubmittersRCV001147257

NM_004453.4(ETFDH):c.488-12A>C

SNV
Germline

Chr4:158685089

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3122379

rs_180889150

2 SubmittersRCV001149619

NM_004453.4(ETFDH):c.972+13C>T

SNV
Germline

Chr4:158697712

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3122511

rs_199589412

2 SubmittersRCV001149623

NM_004453.4(ETFDH):c.1117-11T>C

SNV
Germline

Chr4:158703412

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA108817202

rs_917132143

2 SubmittersRCV001145312

NM_004453.4(ETFDH):c.769T>C (p.Tyr257His)

SNV
Germline

Chr4:158695581

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358560856

rs_1441657866

1 SubmittersRCV001223416

NM_004453.4(ETFDH):c.487+1G>A

SNV
Germline

Chr4:158684674

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358575213

rs_1444488601

1 SubmittersRCV001213999

NM_004453.4(ETFDH):c.176-2A>T

SNV
Germline

Chr4:158682193

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA358573717

rs_1485038306

3 SubmittersRCV001219278 RCV001833902

NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)

SNV
Germline

Chr4:158697562

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA3122479

rs_754082348

3 SubmittersRCV001243666 RCV004690032

NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys)

SNV
Germline

Chr4:158706829

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358565178

rs_1279728239

4 SubmittersRCV001246805 RCV002307709

NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)

SNV
Germline

Chr19:51353254

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA9610811

rs_187424345

2 SubmittersRCV001244975

NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)

SNV
Germline

Chr4:158680584

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3122286

rs_534388496

7 SubmittersRCV001319011 RCV001836301 RCV003886502

NM_004453.4(ETFDH):c.405+3A>G

SNV
Germline

Chr4:158682427

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
not specified
ETFDH-related disorder

Criteria Provided
Conflicting Classifications

CA789754125

rs_796051965

8 SubmittersRCV001329258 RCV001509240 RCV001844286 RCV004749658

NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)

SNV
Germline

Chr4:158695598

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA358560898

rs_1450977775

4 SubmittersRCV001329259 RCV004690081

NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)

SNV
Germline

Chr19:51353233

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia IIc
not specified

Criteria Provided
Conflicting Classifications

CA9610806

rs_758509148

3 SubmittersRCV001332069 RCV004035727 RCV005408837

NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg)

SNV
Germline

Chr4:158706236

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C
not specified

Criteria Provided
Conflicting Classifications

CA358563808

rs_1156517377

5 SubmittersRCV001362371 RCV001831229 RCV002469380

NM_004453.4(ETFDH):c.296G>A (p.Arg99His)

SNV
Germline

Chr4:158682315

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3122316

rs_376630579

3 SubmittersRCV001378006 RCV001762662 RCV003323872

NM_004453.4(ETFDH):c.406-2A>G

SNV
Germline

Chr4:158684590

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358574899

rs_2150306282

2 SubmittersRCV001379754

NM_004453.4(ETFDH):c.406-1G>A

SNV
Germline

Chr4:158684591

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3122351

rs_750189181

3 SubmittersRCV001377957 RCV004728693

NM_004453.4(ETFDH):c.488-1G>T

SNV
Germline

Chr4:158685100

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358575254

rs_2150306551

2 SubmittersRCV001377173

NM_004453.4(ETFDH):c.831+3A>C

SNV
Germline

Chr4:158695646

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA2499217146

rs_1426349276

1 SubmittersRCV001377216

NM_004453.4(ETFDH):c.973-2A>G

SNV
Germline

Chr4:158698985

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358561883

rs_2150312193

1 SubmittersRCV001376776

NM_004453.4(ETFDH):c.1415G>C (p.Gly472Ala)

SNV
Germline

Chr4:158706318

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3122618

rs_768181815

1 SubmittersRCV001379882

NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)

SNV
Germline

Chr4:158703533

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA358563000

rs_1200031596

4 SubmittersRCV001380775 RCV001831378

NM_004453.4(ETFDH):c.1285+2T>G

SNV
Germline

Chr4:158703593

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358563130

rs_2126309523

1 SubmittersRCV001385003

NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr)

SNV
Germline

Chr4:158706682

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3122654

rs_751394068

1 SubmittersRCV001380776

NM_004453.4(ETFDH):c.1763A>G (p.His588Arg)

SNV
Germline

Chr4:158708436

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122718

rs_781498366

3 SubmittersRCV001380777

NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)

SNV
Germline

Chr15:76274435

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393510499

rs_757409121

1 SubmittersRCV001381065

NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)

SNV
Germline

Chr4:158690406

Likely pathogenic

Glutaric acidemia iic, late-onset
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358560019

rs_1482632936

4 SubmittersRCV001533540 RCV001882597

NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr)

SNV
Germline

Chr4:158706264

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA358563964

rs_2126314946

2 SubmittersRCV001564973 RCV002573190

NM_004453.4(ETFDH):c.920C>T (p.Ser307Phe)

SNV
Germline

Chr4:158697647

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

No Assertion Criteria Provided

CA358561566

rs_769047475

1 SubmittersRCV001698889

NM_000126.4(ETFA):c.494T>C (p.Val165Ala)

SNV
Germline

Chr15:76286439

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7673746

rs_749455172

2 SubmittersRCV001733357 RCV004571073

NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr)

SNV
Germline

Chr4:158695540

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA358560729

rs_1397900640

3 SubmittersRCV001762929 RCV002543945

NM_004453.4(ETFDH):c.226G>A (p.Ala76Thr)

SNV
Germline

Chr4:158682245

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573941

rs_1430630684

1 SubmittersRCV001836609

NM_004453.4(ETFDH):c.1762C>T (p.His588Tyr)

SNV
Germline

Chr4:158708435

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358566641

rs_1225042876

1 SubmittersRCV001988925

NM_004453.4(ETFDH):c.606+1G>A

SNV
Germline

Chr4:158685220

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358575615

rs_1241072742

1 SubmittersRCV002034132

NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys)

SNV
Germline

Chr4:158699096

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358562315

rs_2150312299

2 SubmittersRCV001989535

NM_004453.4(ETFDH):c.1586A>G (p.His529Arg)

SNV
Germline

Chr4:158706746

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358564919

rs_2126316486

2 SubmittersRCV002013568 RCV003886547

NM_004453.4(ETFDH):c.152G>T (p.Arg51Leu)

SNV
Germline

Chr4:158680584

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573535

rs_534388496

1 SubmittersRCV001963736

NM_004453.4(ETFDH):c.1811T>A (p.Val604Glu)

SNV
Germline

Chr4:158708484

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358566893

rs_2126321188

1 SubmittersRCV002036726

NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter)

SNV
Germline

Chr4:158682284

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358574074

rs_2150305196

1 SubmittersRCV001928266

NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp)

SNV
Germline

Chr4:158680583

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3122285

rs_187248590

1 SubmittersRCV002028365

NM_004453.4(ETFDH):c.34+5G>C

SNV
Germline

Chr4:158672495

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA555632560

rs_1373597092

2 SubmittersRCV001994257

NM_004453.4(ETFDH):c.806A>T (p.Gln269Leu)

SNV
Germline

Chr4:158695618

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3122447

rs_776320810

1 SubmittersRCV002000652

NM_004453.4(ETFDH):c.1099A>G (p.Asn367Asp)

SNV
Germline

Chr4:158699113

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358562347

rs_2150312312

1 SubmittersRCV002000660

NM_004453.4(ETFDH):c.1366C>G (p.Pro456Ala)

SNV
Germline

Chr4:158706269

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358563996

rs_751821289

1 SubmittersRCV001999050

NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser)

SNV
Germline

Chr4:158706826

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358565167

rs_2126316885

1 SubmittersRCV001938288

NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile)

SNV
Germline

Chr4:158699006

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA358561942

rs_2150312216

3 SubmittersRCV001935533 RCV003323953

NM_004453.4(ETFDH):c.607-1G>T

SNV
Germline

Chr4:158690347

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA358559894

rs_760251231

3 SubmittersRCV001970838 RCV005614742

NM_004453.4(ETFDH):c.1001T>G (p.Leu334Arg)

SNV
Germline

Chr4:158699015

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358561972

rs_377686388

2 SubmittersRCV002012925 RCV005095516

NM_004453.4(ETFDH):c.350C>A (p.Ala117Asp)

SNV
Germline

Chr4:158682369

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358574409

rs_1773884764

1 SubmittersRCV001995333

NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr)

SNV
Germline

Chr4:158706674

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3122650

rs_764164607

3 SubmittersRCV001976471 RCV004774578

NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter)

SNV
Germline

Chr4:158684649

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358575118

rs_549150456

1 SubmittersRCV002049210

NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly)

SNV
Germline

Chr4:158706257

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358563929

rs_1580422659

1 SubmittersRCV001971135

NM_004453.4(ETFDH):c.405+1G>T

SNV
Germline

Chr4:158682425

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358574556

rs_2150305321

1 SubmittersRCV001971199

NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)

SNV
Germline

Chr4:158706234

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA3122601

rs_760234838

3 SubmittersRCV001944614 RCV003487810

NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter)

SNV
Germline

Chr4:158680530

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573389

rs_1169197181

1 SubmittersRCV001919576

NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter)

SNV
Germline

Chr4:158706336

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358564571

rs_2126315337

1 SubmittersRCV002035300

NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)

SNV
Germline

Chr4:158682270

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358574024

rs_1580396712

2 SubmittersRCV002035269

NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter)

SNV
Germline

Chr4:158706281

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358564075

rs_989125087

1 SubmittersRCV001993214

NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)

SNV
Germline

Chr19:51346926

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9610719

rs_772976948

5 SubmittersRCV001916076 RCV005409849

NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)

SNV
Germline

Chr19:51347007

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9610733

rs_148045813

4 SubmittersRCV001939613 RCV004699584

NM_004453.4(ETFDH):c.1066G>A (p.Gly356Arg)

SNV
Germline

Chr4:158699080

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA358562260

rs_2150312288

2 SubmittersRCV001995782 RCV005406249

NM_004453.4(ETFDH):c.1786G>A (p.Asp596Asn)

SNV
Germline

Chr4:158708459

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358566765

rs_1165102742

2 SubmittersRCV001994364

NM_004453.4(ETFDH):c.152G>C (p.Arg51Pro)

SNV
Germline

Chr4:158680584

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573534

rs_534388496

1 SubmittersRCV001980762

NM_001985.3(ETFB):c.316C>T (p.Arg106Trp)

SNV
Germline

Chr19:51353191

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9610799

rs_748730384

2 SubmittersRCV001879069 RCV002274230

NM_004453.4(ETFDH):c.872T>G (p.Val291Gly)

SNV
Germline

Chr4:158697599

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358561364

rs_755907131

3 SubmittersRCV001941612

NM_004453.4(ETFDH):c.296G>C (p.Arg99Pro)

SNV
Germline

Chr4:158682315

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358574194

rs_376630579

1 SubmittersRCV002017019

NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter)

SNV
Germline

Chr4:158708372

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358566355

rs_1774695889

1 SubmittersRCV001946803

NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)

SNV
Germline

Chr15:76295733

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2A

Criteria Provided
Single Submitter

CA273700384

rs_1047426224

2 SubmittersRCV001951135 RCV005614738

NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg)

SNV
Germline

Chr4:158682399

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358574497

rs_121964956

1 SubmittersRCV001951158

NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter)

SNV
Germline

Chr4:158706298

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122615

rs_745714733

2 SubmittersRCV001946884

NM_000126.4(ETFA):c.186+1G>A

SNV
Germline

Chr15:76295590

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA393517772

rs_2141543695

2 SubmittersRCV002036201

NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)

SNV
Germline

Chr4:158682288

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122310

rs_749085653

4 SubmittersRCV001970056

NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter)

SNV
Germline

Chr4:158699013

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358561965

rs_2150312228

1 SubmittersRCV001901387

NM_004453.4(ETFDH):c.1810G>A (p.Val604Met)

SNV
Germline

Chr4:158708483

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358566887

rs_1436514087

1 SubmittersRCV002018369

NM_000126.4(ETFA):c.452-2A>G

SNV
Germline

Chr15:76286483

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA393513975

rs_2141531787

2 SubmittersRCV002031943

NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)

SNV
Germline

Chr4:158682363

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358574392

rs_2150305273

2 SubmittersRCV001951472

NM_004453.4(ETFDH):c.169T>C (p.Trp57Arg)

SNV
Germline

Chr4:158680601

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573592

rs_1773829495

1 SubmittersRCV002006312

NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter)

SNV
Germline

Chr4:158706242

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Single Submitter

CA358563849

rs_2126314844

2 SubmittersRCV001914838 RCV005614698

NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His)

SNV
Germline

Chr4:158706817

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122680

rs_182913453

2 SubmittersRCV002027116

NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)

SNV
Germline

Chr4:158690393

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122424

rs_748289922

4 SubmittersRCV002038367

NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg)

SNV
Germline

Chr4:158708501

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358566944

rs_2126321296

1 SubmittersRCV002038411

NM_001985.3(ETFB):c.18G>C (p.Val6=)

SNV
Germline

Chr19:51366309

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
ETFB-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309746111

rs_572600030

3 SubmittersRCV002143936 RCV003895970 RCV005412380

NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln)

SNV
Germline

Chr4:158680554

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3122279

rs_150105001

4 SubmittersRCV002210294 RCV002261450 RCV004616985

NM_001376571.1(MADD):c.4109T>A (p.Leu1370Ter)

SNV
Germline

Chr11:47309563

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

Criteria Provided
Single Submitter

CA380360896

rs_2140853464

1 SubmittersRCV002273085

NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)

SNV
Germline

Chr4:158699088

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358562293

rs_2479121069

3 SubmittersRCV002283899

NM_004453.4(ETFDH):c.1690+2T>G

SNV
Germline

Chr4:158706852

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency
ETFDH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3122689

rs_767238539

3 SubmittersRCV002461618 RCV003103104 RCV003408283

NM_001985.3(ETFB):c.375+1G>T

SNV
Germline

Chr19:51353131

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA407082351

rs_2514153018

2 SubmittersRCV002470034

NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)

SNV
Germline

Chr4:158706812

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358565115

rs_772351035

3 SubmittersRCV002471536

NM_001985.3(ETFB):c.375G>C (p.Gln125His)

SNV
Germline

Chr19:51353132

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA407082354

rs_1173733121

1 SubmittersRCV003064593

NM_004453.4(ETFDH):c.1834C>A (p.Pro612Thr)

SNV
Germline

Chr4:158708507

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358566957

rs_1774704452

1 SubmittersRCV003089794

NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe)

SNV
Germline

Chr4:158684598

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA358574915

rs_1773952713

2 SubmittersRCV003061551 RCV003235766

NM_004453.4(ETFDH):c.1117-2A>G

SNV
Germline

Chr4:158703421

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA108817210

rs_764060500

2 SubmittersRCV003079056

NM_004453.4(ETFDH):c.1142G>A (p.Gly381Asp)

SNV
Germline

Chr4:158703448

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358562759

rs_1774519367

1 SubmittersRCV002603372

NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln)

SNV
Germline

Chr4:158706644

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA108819321

rs_759959904

2 SubmittersRCV002663952 RCV005567446

NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)

SNV
Germline

Chr4:158672459

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358572985

rs_1340862175

1 SubmittersRCV002651856

NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser)

SNV
Germline

Chr4:158684595

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA501142

rs_1773952432

1 SubmittersRCV002651857

NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)

SNV
Germline

Chr4:158690384

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122422

rs_755214552

3 SubmittersRCV002651858

NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)

SNV
Germline

Chr4:158706835

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA108819444

rs_186023896

2 SubmittersRCV002664352

NM_000126.4(ETFA):c.268+1G>A

SNV
Germline

Chr15:76292618

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393517154

rs_1567218409

1 SubmittersRCV003104196

NM_004453.4(ETFDH):c.34+5G>A

SNV
Germline

Chr4:158672495

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA2580071635

rs_1373597092

2 SubmittersRCV002627395

NM_001985.3(ETFB):c.2T>C (p.Met1Thr)

SNV
Germline

Chr19:51366325

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA9610965

rs_746888203

2 SubmittersRCV002765576

NM_004453.4(ETFDH):c.831+2T>G

SNV
Germline

Chr4:158695645

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358560999

rs_150832878

1 SubmittersRCV002750611

NM_004453.4(ETFDH):c.1400G>A (p.Gly467Glu)

SNV
Germline

Chr4:158706303

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358564494

rs_1404406222

1 SubmittersRCV002750721

NM_004453.4(ETFDH):c.897G>A (p.Leu299=)

SNV
Germline

Chr4:158697624

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3122492

rs_764284379

2 SubmittersRCV002786581

NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)

SNV
Germline

Chr4:158703582

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358563107

rs_2476721678

2 SubmittersRCV002801684

NM_004453.4(ETFDH):c.1335G>C (p.Trp445Cys)

SNV
Germline

Chr4:158706238

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358563823

rs_2476731972

1 SubmittersRCV002828184

NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter)

SNV
Germline

Chr4:158680604

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573610

rs_1473188524

1 SubmittersRCV002830247

NM_001985.3(ETFB):c.454C>T (p.Gln152Ter)

SNV
Germline

Chr19:51347043

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA407081285

rs_2514144323

1 SubmittersRCV002885076

NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)

SNV
Germline

Chr15:76286377

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393513341

rs_2543023391

1 SubmittersRCV002862723

NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)

SNV
Germline

Chr4:158708384

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3122706

rs_370159889

3 SubmittersRCV002941867 RCV003320904 RCV004617119

NM_004453.4(ETFDH):c.379C>T (p.Leu127Phe)

SNV
Germline

Chr4:158682398

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358574496

rs_1466275942

1 SubmittersRCV002928699

NM_000126.4(ETFA):c.352-2A>G

SNV
Germline

Chr15:76287947

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393515484

rs_2543025251

1 SubmittersRCV002982147

NM_001985.3(ETFB):c.375+1G>A

SNV
Germline

Chr19:51353131

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA407082349

rs_2514153018

2 SubmittersRCV002976143

NM_004453.4(ETFDH):c.1587T>G (p.His529Gln)

SNV
Germline

Chr4:158706747

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358564922

rs_2476735533

1 SubmittersRCV003026766

NM_004453.4(ETFDH):c.1210A>C (p.Met404Leu)

SNV
Germline

Chr4:158703516

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358562959

rs_2476721217

1 SubmittersRCV003043185

NM_000126.4(ETFA):c.242A>C (p.His81Pro)

SNV
Germline

Chr15:76292645

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA273699474

rs_972293793

2 SubmittersRCV003140452

NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)

SNV
Germline

Chr4:158708504

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
ETFDH-related disorder
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA358566950

rs_1774704214

4 SubmittersRCV003388383 RCV003397028 RCV005616635

NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)

SNV
Germline

Chr4:158682264

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
not specified
ETFDH-related disorder

Criteria Provided
Conflicting Classifications

CA108848785

rs_887871605

3 SubmittersRCV003475572 RCV003388535 RCV003420682

NM_001985.3(ETFB):c.439-8C>T

SNV
Germline

Chr19:51347066

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA2695199922

rs_2514144391

2 SubmittersRCV003415397 RCV005100051

NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)

SNV
Unknown

Chr15:76292694

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393517447

rs_1297718024

1 SubmittersRCV003475599

NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)

SNV
Unknown

Chr15:76287932

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA7673775

rs_773865838

1 SubmittersRCV003475600

NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)

SNV
Unknown

Chr15:76292649

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393517275

rs_2543032548

1 SubmittersRCV003475601

NM_000126.4(ETFA):c.268+1G>C

SNV
Unknown

Chr15:76292618

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393517155

rs_1567218409

1 SubmittersRCV003475604

NM_000126.4(ETFA):c.665-1G>A

SNV
Germline

Chr15:76283826

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA393512772

rs_2543020089

2 SubmittersRCV003475608

NM_000126.4(ETFA):c.451+1G>A

SNV
Germline

Chr15:76287845

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7673763

rs_780367967

2 SubmittersRCV003475610

NM_001985.3(ETFB):c.163A>T (p.Lys55Ter)

SNV
Unknown

Chr19:51354203

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA407083166

rs_2514155556

1 SubmittersRCV003476352

NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr19:51350361

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA407081943

rs_1985903483

2 SubmittersRCV003476353

NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)

SNV
Germline

Chr19:51354305

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA9610876

rs_374288379

2 SubmittersRCV003476354

NM_001985.3(ETFB):c.375+1G>C

SNV
Unknown

Chr19:51353131

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA407082352

rs_2514153018

1 SubmittersRCV003476355

NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)

SNV
Germline

Chr19:51354242

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA9610859

rs_774387920

3 SubmittersRCV003476359

NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser)

SNV
Unknown

Chr4:158706357

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358564624

rs_2476733074

1 SubmittersRCV003476363

NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)

SNV
Germline

Chr4:158697647

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358561568

rs_769047475

2 SubmittersRCV003476364

NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)

SNV
Unknown

Chr4:158703580

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358563102

rs_2476721663

1 SubmittersRCV003476366

NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter)

SNV
Unknown

Chr4:158708390

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358566436

rs_2476741210

1 SubmittersRCV003476369

NM_004453.4(ETFDH):c.607-1G>A

SNV
Germline

Chr4:158690347

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122412

rs_760251231

2 SubmittersRCV003476370

NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)

SNV
Unknown

Chr4:158699012

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3122534

rs_781531865

1 SubmittersRCV003476372

NM_004453.4(ETFDH):c.685-1G>A

SNV
Germline

Chr4:158695496

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358560532

rs_2479110961

2 SubmittersRCV003476373

NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)

SNV
Unknown

Chr4:158680536

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573406

rs_2479076127

1 SubmittersRCV003476378

NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter)

SNV
Unknown

Chr4:158708468

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358566808

rs_2476741563

1 SubmittersRCV003476379

NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro)

SNV
Unknown

Chr4:158682263

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358574003

rs_2479080250

1 SubmittersRCV003476380

NM_004453.4(ETFDH):c.606+1G>T

SNV
Unknown

Chr4:158685220

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358575617

rs_1241072742

1 SubmittersRCV003476381

NM_004453.4(ETFDH):c.299T>A (p.Val100Glu)

SNV
Unknown

Chr4:158682318

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358574203

rs_2479080515

1 SubmittersRCV003476382

NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter)

SNV
Unknown

Chr4:158682412

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358574522

rs_1292908960

1 SubmittersRCV003476383

NM_004453.4(ETFDH):c.1691-3C>G

SNV
Germline

Chr4:158708361

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Single Submitter

CA3122701

rs_776853600

2 SubmittersRCV003476384 RCV005616641

NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)

SNV
Germline

Chr4:158684616

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358574986

rs_2479086062

2 SubmittersRCV003476385

NM_004453.4(ETFDH):c.175+2T>C

SNV
Unknown

Chr4:158680609

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573634

rs_2479076416

1 SubmittersRCV003476389

NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter)

SNV
Unknown

Chr4:158680602

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573595

rs_1232214003

1 SubmittersRCV003476393

NM_004453.4(ETFDH):c.831+1G>A

SNV
Unknown

Chr4:158695644

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358560995

rs_2479111562

1 SubmittersRCV003476394

NM_004453.4(ETFDH):c.34+1G>A

SNV
Unknown

Chr4:158672491

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573044

rs_2479057315

1 SubmittersRCV003476396

NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys)

SNV
Unknown

Chr4:158695548

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358560762

rs_2479111092

1 SubmittersRCV003476398

NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)

SNV
Germline

Chr4:158708372

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA358566351

rs_1774695889

2 SubmittersRCV003467945

NM_004453.4(ETFDH):c.508G>T (p.Gly170Cys)

SNV
Germline

Chr4:158685121

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3122383

rs_775548362

2 SubmittersRCV003479669 RCV004574051

NM_000126.4(ETFA):c.817-2A>G

SNV
Germline

Chr15:76231400

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393516072

rs_2542969762

1 SubmittersRCV003512928

NM_000126.4(ETFA):c.39+1G>T

SNV
Germline

Chr15:76311349

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393519502

rs_2543051746

1 SubmittersRCV003513097

NM_004453.4(ETFDH):c.832-1G>A

SNV
Germline

Chr4:158697558

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358561173

rs_1291408658

1 SubmittersRCV003513596

NM_004453.4(ETFDH):c.916G>T (p.Gly306Ter)

SNV
Germline

Chr4:158697643

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358561554

rs_761008371

1 SubmittersRCV003511555

NM_004453.4(ETFDH):c.3G>T (p.Met1Ile)

SNV
Germline

Chr4:158672459

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358572986

rs_1340862175

1 SubmittersRCV003511612

NM_000126.4(ETFA):c.39+1G>A

SNV
Germline

Chr15:76311349

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA393519504

rs_2543051746

2 SubmittersRCV003511830

NM_004453.4(ETFDH):c.1659T>G (p.Tyr553Ter)

SNV
Germline

Chr4:158706819

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358565140

rs_1333454413

1 SubmittersRCV003512646

NM_004453.4(ETFDH):c.607-2A>G

SNV
Germline

Chr4:158690346

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358559891

rs_2479100223

1 SubmittersRCV003512748

NM_000126.4(ETFA):c.269-2A>G

SNV
Germline

Chr15:76292515

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393517142

rs_2543032349

1 SubmittersRCV003512741

NM_004453.4(ETFDH):c.1210A>T (p.Met404Leu)

SNV
Germline

Chr4:158703516

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358562961

rs_2476721217

1 SubmittersRCV003512665

NM_000126.4(ETFA):c.351+1G>A

SNV
Germline

Chr15:76292430

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393516623

rs_2543032160

1 SubmittersRCV003512715

NM_001985.3(ETFB):c.439-1G>A

SNV
Germline

Chr19:51347059

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA407081349

rs_2514144368

1 SubmittersRCV003624634

NM_004453.4(ETFDH):c.1428G>A (p.Trp476Ter)

SNV
Germline

Chr4:158706331

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358564559

rs_1374116117

1 SubmittersRCV003624575

NM_001985.3(ETFB):c.216+1G>C

SNV
Germline

Chr19:51354149

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA9610834

rs_781748603

1 SubmittersRCV003624540

NM_004453.4(ETFDH):c.487+2T>A

SNV
Germline

Chr4:158684675

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358575218

rs_2479086315

1 SubmittersRCV003624777

NM_004453.4(ETFDH):c.1781T>C (p.Ile594Thr)

SNV
Germline

Chr4:158708454

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3122723

rs_770051042

1 SubmittersRCV003624807

NM_004453.4(ETFDH):c.725C>T (p.Thr242Ile)

SNV
Germline

Chr4:158695537

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3122443

rs_777646291

1 SubmittersRCV003624697

NM_000126.4(ETFA):c.352-1G>A

SNV
Germline

Chr15:76287946

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393515470

rs_2543025247

1 SubmittersRCV003625195

NM_004453.4(ETFDH):c.577G>T (p.Glu193Ter)

SNV
Germline

Chr4:158685190

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358575551

rs_1773973345

1 SubmittersRCV003625323

NM_004453.4(ETFDH):c.487+2T>G

SNV
Germline

Chr4:158684675

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358575222

rs_2479086315

1 SubmittersRCV003625703

NM_004453.4(ETFDH):c.176-1G>A

SNV
Germline

Chr4:158682194

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358573726

rs_2479080011

1 SubmittersRCV003625705

NM_000126.4(ETFA):c.734-2A>G

SNV
Germline

Chr15:76274496

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393511120

rs_2543011317

1 SubmittersRCV003625606

NM_000126.4(ETFA):c.351+2T>C

SNV
Germline

Chr15:76292429

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393516617

rs_2543032159

1 SubmittersRCV003623931

NM_004453.4(ETFDH):c.1270C>T (p.Gln424Ter)

SNV
Germline

Chr4:158703576

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA358563093

rs_2476721648

1 SubmittersRCV003624041

NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)

SNV
Germline

Chr15:76285704

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA393513242

rs_2543022350

1 SubmittersRCV003624218

NM_004453.4(ETFDH):c.488-6T>C

SNV
Germline

Chr4:158685095

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3122381

rs_746105363

2 SubmittersRCV003823323

NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)

SNV
Germline

Chr19:51354188

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA407083102

rs_1193726585

2 SubmittersRCV003857880

NM_004453.4(ETFDH):c.679C>T (p.Pro227Ser)

SNV
Germline

Chr4:158690420

Conflicting classifications of pathogenicity

ETFDH-related disorder
not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA108807371

rs_141407224

3 SubmittersRCV004750476 RCV004527226 RCV005038705

NM_000126.4(ETFA):c.465T>A (p.Cys155Ter)

SNV
Unknown

Chr15:76286468

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1239955378

1 SubmittersRCV004576398

NM_000126.4(ETFA):c.451+1G>T

SNV
Unknown

Chr15:76287845

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_780367967

1 SubmittersRCV004576400

NM_001985.3(ETFB):c.376-2A>C

SNV
Unknown

Chr19:51350393

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1568466685

1 SubmittersRCV004576402

NM_004453.4(ETFDH):c.1083C>G (p.Tyr361Ter)

SNV
Unknown

Chr4:158699097

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_765063539

1 SubmittersRCV004576404

NM_004453.4(ETFDH):c.1750C>T (p.Gln584Ter)

SNV
Unknown

Chr4:158708423

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2476741382

1 SubmittersRCV004576406

NM_004453.4(ETFDH):c.890G>A (p.Trp297Ter)

SNV
Unknown

Chr4:158697617

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2479116902

1 SubmittersRCV004576407

NM_004453.4(ETFDH):c.528G>C (p.Leu176Phe)

SNV
Germline

Chr4:158685141

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Single Submitter

rs_2479087993

2 SubmittersRCV004576411 RCV005618361

NM_004453.4(ETFDH):c.1427G>A (p.Trp476Ter)

SNV
Unknown

Chr4:158706330

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1281406250

1 SubmittersRCV004576414

NM_004453.4(ETFDH):c.521T>C (p.Val174Ala)

SNV
Unknown

Chr4:158685134

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1244950045

1 SubmittersRCV004576416

NM_004453.4(ETFDH):c.578A>C (p.Glu193Ala)

SNV
Germline

Chr4:158685191

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1287661192

2 SubmittersRCV004586261 RCV005038729

NM_004453.4(ETFDH):c.1448C>A (p.Pro483Gln)

SNV
Germline

Chr4:158706351

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004689547 RCV005023643

NM_000126.4(ETFA):c.964-1G>A

SNV
Germline

Chr15:76216598

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004732510

NM_004453.4(ETFDH):c.587C>A (p.Pro196His)

SNV
Germline

Chr4:158685200

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004782084

NM_004453.4(ETFDH):c.891G>A (p.Trp297Ter)

SNV
Germline

Chr4:158697618

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004819955

NM_000126.4(ETFA):c.562+1G>T

SNV
Germline

Chr15:76286370

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005003208

NM_000126.4(ETFA):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:76311388

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005003211

NM_001985.3(ETFB):c.694C>T (p.Gln232Ter)

SNV
Germline

Chr19:51345285

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005015862

NM_001985.3(ETFB):c.216+2T>C

SNV
Germline

Chr19:51354148

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005015864

NM_001985.3(ETFB):c.214C>T (p.Gln72Ter)

SNV
Germline

Chr19:51354152

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005015865

NM_004453.4(ETFDH):c.684G>T (p.Lys228Asn)

SNV
Germline

Chr4:158690425

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005039048

NM_004453.4(ETFDH):c.684+2T>C

SNV
Germline

Chr4:158690427

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005039049

NM_004453.4(ETFDH):c.1690+1G>C

SNV
Germline

Chr4:158706851

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005039053

NM_004453.4(ETFDH):c.1842C>A (p.Tyr614Ter)

SNV
Germline

Chr4:158708515

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005066734

NM_004453.4(ETFDH):c.392G>A (p.Trp131Ter)

SNV
Germline

Chr4:158682411

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005115215

NM_004453.4(ETFDH):c.607-1G>C

SNV
Germline

Chr4:158690347

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005108119

NM_004453.4(ETFDH):c.694G>T (p.Glu232Ter)

SNV
Germline

Chr4:158695506

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005120351

NM_004453.4(ETFDH):c.813C>A (p.Tyr271Ter)

SNV
Germline

Chr4:158695625

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005135269

NM_004453.4(ETFDH):c.34+2T>A

SNV
Germline

Chr4:158672492

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005148982

NM_004453.4(ETFDH):c.405+1G>A

SNV
Germline

Chr4:158682425

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005200469

NM_004453.4(ETFDH):c.1469-1G>A

SNV
Germline

Chr4:158706628

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005208463

NM_004453.4(ETFDH):c.236C>G (p.Ala79Gly)

SNV
Germline

Chr4:158682255

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005409559

NM_004453.4(ETFDH):c.1204A>G (p.Thr402Ala)

SNV
Unknown

Chr4:158703510

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005626107