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	3 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	Criteria Provided Multiple Submitters No Conflicts	CA115638	rs_119458970	12 SubmittersRCV000002712 RCV000185868 RCV000332032 RCV003904798
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	Glutaric acidemia IIc Condition: not provided Multiple acyl-CoA dehydrogenase deficiency See cases	Criteria Provided Multiple Submitters No Conflicts	CA121817	rs_121964954	13 SubmittersRCV000012808 RCV000224728 RCV000553294 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 Single Submitter	CA121819	rs_121964955	2 SubmittersRCV000012809 RCV002512994
NM_004453.4(ETFDH):c.380T>A (p.Leu127His)	SNV Germline	Chr4:158682399	Pathogenic	Glutaric acidemia IIc Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA121821	rs_121964956	4 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	Criteria Provided Multiple Submitters No Conflicts	CA126841	rs_104894677	3 SubmittersRCV001235936 RCV000018200
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	6 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 Condition: not provided Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA129834	rs_387907170	10 SubmittersRCV000024305 RCV000210651 RCV000578325 RCV001814011 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	5 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	8 SubmittersRCV000081077 RCV000174102
NM_004453.4(ETFDH):c.832-10T>G	SNV Germline	Chr4:158697549	Conflicting classifications of pathogenicity	not specified Condition: not provided Multiple acyl-CoA dehydrogenase deficiency ETFDH-related disorder	Criteria Provided Conflicting Classifications	CA290771	rs_200911913	5 SubmittersRCV000124918 RCV000676845 RCV001079915 RCV003935187
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	4 SubmittersRCV000153198 RCV000324694
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)	SNV Germline	Chr4:158680511	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Conflicting Classifications	CA233953	rs_537038850	6 SubmittersRCV000153200 RCV000392257 RCV001831952
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)	SNV Germline	Chr4:158706691	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA239854	rs_780768015	5 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.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	Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312535	rs_796051958	2 SubmittersRCV000185895 RCV004796079
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 not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312541	rs_776428695	3 SubmittersRCV000185898 RCV002282017 RCV002516968
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		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	4 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		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	6 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	6 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	Criteria Provided Conflicting Classifications	CA312494	rs_147353781	6 SubmittersRCV000185874 RCV000658852 RCV001086047 RCV001171332 RCV003907648
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 not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312506	rs_548046212	3 SubmittersRCV000185880 RCV002222436 RCV002513954
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	2 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	5 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	3 SubmittersRCV000224819 RCV002519760
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)	SNV Germline	Chr15:76287855	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Glutaric acidemia type 2A	Criteria Provided Conflicting Classifications	CA7673764	rs_199673198	3 SubmittersRCV001081384 RCV000224700 RCV001272688
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)	SNV Germline	Chr4:158708505	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C ETFDH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3122732	rs_761669036	6 SubmittersRCV000255489 RCV001069003 RCV001833298 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	3 SubmittersRCV000254926 RCV001228210
NM_000126.4(ETFA):c.6C>T (p.Phe2=)	SNV Germline	Chr15:76311383	Conflicting classifications of pathogenicity	not specified Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2A	Criteria Provided Conflicting Classifications	CA7673900	rs_749929239	4 SubmittersRCV000341012 RCV000725409 RCV001079275 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	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3122610	rs_751821289	6 SubmittersRCV000415983 RCV000763116
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	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	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	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA7673658	rs_769976586	7 SubmittersRCV000493941 RCV000779174 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	4 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.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	4 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		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		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		rs_1265381182	3 SubmittersRCV000685445 RCV001829892 RCV004798855
NM_004453.4(ETFDH):c.831+4T>C	SNV Germline	Chr4:158695647	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_752971257	3 SubmittersRCV001585642 RCV002534358 RCV000698477
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		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		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		rs_1561251388	4 SubmittersRCV000723006 RCV000987490
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)	SNV Germline	Chr4:158685158	Conflicting classifications of pathogenicity	Glutaric acidemia type 2C Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_767249944	4 SubmittersRCV001830667 RCV000778725
NM_004453.4(ETFDH):c.1116+2T>C	SNV Germline	Chr4:158699132	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1561247874	2 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		rs_199899494	3 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		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		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		rs_1580422708	1 SubmittersRCV000806807
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)	SNV Germline	Chr15:76295725	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_754202690	5 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		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		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		rs_139306043	7 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		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		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		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		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 type 2C Glutaric acidemia IIc	Criteria Provided Multiple Submitters No Conflicts		rs_371493232	6 SubmittersRCV000987486 RCV001832301 RCV002255101
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		rs_1580406119	2 SubmittersRCV000987488
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)	SNV Germline	Chr4:158699120	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_754418186	4 SubmittersRCV002222651 RCV000987489
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser)	SNV Unknown	Chr4:158706707	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		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		rs_763541530	4 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		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		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		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		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		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		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		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		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		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		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		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		rs_751256504	3 SubmittersRCV001148073 RCV003963089
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)	SNV Germline	Chr4:158695543	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1448673327	3 SubmittersRCV001149621 RCV002275296
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		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		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		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		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		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		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		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		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		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		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		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		rs_534388496	6 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		rs_796051965	7 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		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	Criteria Provided Conflicting Classifications		rs_758509148	2 SubmittersRCV001332069 RCV004035727
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		rs_1156517377	3 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		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		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		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		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		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		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		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		rs_1200031596	3 SubmittersRCV001380775 RCV001831378
NM_004453.4(ETFDH):c.1285+2T>G	SNV Germline	Chr4:158703593	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		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		rs_751394068	1 SubmittersRCV001380776
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg)	SNV Germline	Chr4:158708436	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_781498366	1 SubmittersRCV001380777
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)	SNV Germline	Chr15:76274435	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_757409121	1 SubmittersRCV001381065
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)	SNV Germline	Chr4:158690406	Conflicting classifications of pathogenicity	Glutaric acidemia iic, late-onset Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		rs_2150312216	2 SubmittersRCV001935533 RCV003323953
NM_004453.4(ETFDH):c.607-1G>T	SNV Germline	Chr4:158690347	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_760251231	2 SubmittersRCV001970838
NM_004453.4(ETFDH):c.1001T>G (p.Leu334Arg)	SNV Germline	Chr4:158699015	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_377686388	1 SubmittersRCV002012925
NM_004453.4(ETFDH):c.350C>A (p.Ala117Asp)	SNV Germline	Chr4:158682369	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		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		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		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		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		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		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		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		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		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		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	Criteria Provided Conflicting Classifications		rs_772976948	3 SubmittersRCV001916076
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		rs_148045813	4 SubmittersRCV001939613 RCV004699584
NM_004453.4(ETFDH):c.1066G>A (p.Gly356Arg)	SNV Germline	Chr4:158699080	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2150312288	1 SubmittersRCV001995782
NM_004453.4(ETFDH):c.1786G>A (p.Asp596Asn)	SNV Germline	Chr4:158708459	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1165102742	1 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		rs_534388496	1 SubmittersRCV001980762
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		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		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		rs_1774695889	1 SubmittersRCV001946803
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)	SNV Germline	Chr15:76295733	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1047426224	1 SubmittersRCV001951135
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg)	SNV Germline	Chr4:158682399	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		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		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		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		rs_749085653	3 SubmittersRCV001970056
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter)	SNV Germline	Chr4:158699013	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		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		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		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		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		rs_1773829495	1 SubmittersRCV002006312
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter)	SNV Germline	Chr4:158706242	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2126314844	1 SubmittersRCV001914838
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		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		rs_748289922	3 SubmittersRCV002038367
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg)	SNV Germline	Chr4:158708501	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2126321296	1 SubmittersRCV002038411
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		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		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			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			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			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			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			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			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			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			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			1 SubmittersRCV002603372
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)	SNV Germline	Chr4:158672459	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			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			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			2 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			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			1 SubmittersRCV003104196
NM_004453.4(ETFDH):c.831+2T>G	SNV Germline	Chr4:158695645	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			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			1 SubmittersRCV002750721
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)	SNV Germline	Chr4:158703582	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 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			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			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			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			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			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			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			1 SubmittersRCV002982147
NM_001985.3(ETFB):c.375+1G>A	SNV Germline	Chr19:51353131	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 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			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			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			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	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003388383 RCV003397028
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)	SNV Germline	Chr4:158682264	Conflicting classifications of pathogenicity	not specified ETFDH-related disorder Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications			3 SubmittersRCV003388535 RCV003420682 RCV003475572
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)	SNV Unknown	Chr15:76292694	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV003475604
NM_000126.4(ETFA):c.665-1G>A	SNV Unknown	Chr15:76283826	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 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			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			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			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			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			1 SubmittersRCV003476355
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)	SNV Germline	Chr19:51354242	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 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			1 SubmittersRCV003476363
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)	SNV Unknown	Chr4:158697647	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 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			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			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			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			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			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			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			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			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			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			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			1 SubmittersRCV003476383
NM_004453.4(ETFDH):c.1691-3C>G	SNV Unknown	Chr4:158708361	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003476384
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			2 SubmittersRCV003476385
NM_004453.4(ETFDH):c.175+2T>C	SNV Unknown	Chr4:158680609	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			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			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			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			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			1 SubmittersRCV003476398
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)	SNV Unknown	Chr4:158708372	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 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			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			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			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			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			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			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			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			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			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			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			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			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			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			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			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			1 SubmittersRCV003624777
NM_004453.4(ETFDH):c.725C>T (p.Thr242Ile)	SNV Germline	Chr4:158695537	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			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			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			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			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			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			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			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			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			1 SubmittersRCV003624218
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			2 SubmittersRCV003857880
NM_000126.4(ETFA):c.465T>A (p.Cys155Ter)	SNV Unknown	Chr15:76286468	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			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			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			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			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			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			1 SubmittersRCV004576407
NM_004453.4(ETFDH):c.528G>C (p.Leu176Phe)	SNV Unknown	Chr4:158685141	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004576411
NM_004453.4(ETFDH):c.1427G>A (p.Trp476Ter)	SNV Unknown	Chr4:158706330	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			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			1 SubmittersRCV004576416
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.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

3 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

Criteria Provided
Multiple Submitters
No Conflicts

CA115638

rs_119458970

12 SubmittersRCV000002712 RCV000185868 RCV000332032 RCV003904798

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA121817

rs_121964954

13 SubmittersRCV000012808 RCV000224728 RCV000553294 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
Single Submitter

CA121819

rs_121964955

2 SubmittersRCV000012809 RCV002512994

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

SNV
Germline

Chr4:158682399

Pathogenic

Glutaric acidemia IIc
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA121821

rs_121964956

4 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

Criteria Provided
Multiple Submitters
No Conflicts

CA126841

rs_104894677

3 SubmittersRCV001235936 RCV000018200

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

6 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
Condition: not provided
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA129834

rs_387907170

10 SubmittersRCV000024305 RCV000210651 RCV000578325 RCV001814011 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

5 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

8 SubmittersRCV000081077 RCV000174102

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

SNV
Germline

Chr4:158697549

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290771

rs_200911913

5 SubmittersRCV000124918 RCV000676845 RCV001079915 RCV003935187

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

4 SubmittersRCV000153198 RCV000324694

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

SNV
Germline

Chr4:158680511

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233953

rs_537038850

6 SubmittersRCV000153200 RCV000392257 RCV001831952

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

SNV
Germline

Chr4:158706691

Pathogenic/Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA239854

rs_780768015

5 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.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

Likely pathogenic

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312535

rs_796051958

2 SubmittersRCV000185895 RCV004796079

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
not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312541

rs_776428695

3 SubmittersRCV000185898 RCV002282017 RCV002516968

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

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

4 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

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

6 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

6 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

Criteria Provided
Conflicting Classifications

CA312494

rs_147353781

6 SubmittersRCV000185874 RCV000658852 RCV001086047 RCV001171332 RCV003907648

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
not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312506

rs_548046212

3 SubmittersRCV000185880 RCV002222436 RCV002513954

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

2 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

5 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

3 SubmittersRCV000224819 RCV002519760

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

SNV
Germline

Chr15:76287855

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7673764

rs_199673198

3 SubmittersRCV001081384 RCV000224700 RCV001272688

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

SNV
Germline

Chr4:158708505

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3122732

rs_761669036

6 SubmittersRCV000255489 RCV001069003 RCV001833298 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

3 SubmittersRCV000254926 RCV001228210

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

SNV
Germline

Chr15:76311383

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7673900

rs_749929239

4 SubmittersRCV000341012 RCV000725409 RCV001079275 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

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3122610

rs_751821289

6 SubmittersRCV000415983 RCV000763116

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

Conflicting classifications of pathogenicity

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7673658

rs_769976586

7 SubmittersRCV000493941 RCV000779174 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

4 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.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

4 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

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

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

rs_1265381182

3 SubmittersRCV000685445 RCV001829892 RCV004798855

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

SNV
Germline

Chr4:158695647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752971257

3 SubmittersRCV001585642 RCV002534358 RCV000698477

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

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

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

rs_1561251388

4 SubmittersRCV000723006 RCV000987490

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

SNV
Germline

Chr4:158685158

Conflicting classifications of pathogenicity

Glutaric acidemia type 2C
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_767249944

4 SubmittersRCV001830667 RCV000778725

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

SNV
Germline

Chr4:158699132

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1561247874

2 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

rs_199899494

3 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

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

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

rs_1580422708

1 SubmittersRCV000806807

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

SNV
Germline

Chr15:76295725

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_754202690

5 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

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

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

rs_139306043

7 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

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

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

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

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 type 2C
Glutaric acidemia IIc

Criteria Provided
Multiple Submitters
No Conflicts

rs_371493232

6 SubmittersRCV000987486 RCV001832301 RCV002255101

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

rs_1580406119

2 SubmittersRCV000987488

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

SNV
Germline

Chr4:158699120

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_754418186

4 SubmittersRCV002222651 RCV000987489

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

SNV
Unknown

Chr4:158706707

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

rs_763541530

4 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

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

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

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

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

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

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

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

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

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

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

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

rs_751256504

3 SubmittersRCV001148073 RCV003963089

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

SNV
Germline

Chr4:158695543

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1448673327

3 SubmittersRCV001149621 RCV002275296

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

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

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

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

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

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

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

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

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

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

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

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

rs_534388496

6 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

rs_796051965

7 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

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

Criteria Provided
Conflicting Classifications

rs_758509148

2 SubmittersRCV001332069 RCV004035727

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

rs_1156517377

3 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

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

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

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

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

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

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

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

rs_1200031596

3 SubmittersRCV001380775 RCV001831378

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

SNV
Germline

Chr4:158703593

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

rs_751394068

1 SubmittersRCV001380776

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

SNV
Germline

Chr4:158708436

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_781498366

1 SubmittersRCV001380777

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

SNV
Germline

Chr15:76274435

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_757409121

1 SubmittersRCV001381065

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

SNV
Germline

Chr4:158690406

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

rs_2150312216

2 SubmittersRCV001935533 RCV003323953

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

SNV
Germline

Chr4:158690347

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_760251231

2 SubmittersRCV001970838

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

SNV
Germline

Chr4:158699015

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_377686388

1 SubmittersRCV002012925

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

SNV
Germline

Chr4:158682369

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_772976948

3 SubmittersRCV001916076

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

rs_148045813

4 SubmittersRCV001939613 RCV004699584

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

SNV
Germline

Chr4:158699080

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2150312288

1 SubmittersRCV001995782

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

SNV
Germline

Chr4:158708459

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1165102742

1 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

rs_534388496

1 SubmittersRCV001980762

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

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

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

rs_1774695889

1 SubmittersRCV001946803

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

SNV
Germline

Chr15:76295733

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1047426224

1 SubmittersRCV001951135

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

SNV
Germline

Chr4:158682399

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

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

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

rs_749085653

3 SubmittersRCV001970056

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

SNV
Germline

Chr4:158699013

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

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

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

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

rs_1773829495

1 SubmittersRCV002006312

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

SNV
Germline

Chr4:158706242

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2126314844

1 SubmittersRCV001914838

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

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

rs_748289922

3 SubmittersRCV002038367

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

SNV
Germline

Chr4:158708501

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2126321296

1 SubmittersRCV002038411

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

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

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

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

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

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

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

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

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

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

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

1 SubmittersRCV002603372

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

SNV
Germline

Chr4:158672459

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

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

2 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

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

1 SubmittersRCV003104196

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

SNV
Germline

Chr4:158695645

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

1 SubmittersRCV002750721

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

SNV
Germline

Chr4:158703582

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 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

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

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

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

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

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

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

1 SubmittersRCV002982147

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

SNV
Germline

Chr19:51353131

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003388383 RCV003397028

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

SNV
Germline

Chr4:158682264

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003388535 RCV003420682 RCV003475572

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

SNV
Unknown

Chr15:76292694

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003475604

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

SNV
Unknown

Chr15:76283826

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 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

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

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

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

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

1 SubmittersRCV003476355

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

SNV
Germline

Chr19:51354242

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 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

1 SubmittersRCV003476363

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

SNV
Unknown

Chr4:158697647

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 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

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

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

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

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

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

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

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

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

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

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

1 SubmittersRCV003476383

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

SNV
Unknown

Chr4:158708361

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003476384

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

2 SubmittersRCV003476385

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

SNV
Unknown

Chr4:158680609

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003476398

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

SNV
Unknown

Chr4:158708372

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

1 SubmittersRCV003624777

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

SNV
Germline

Chr4:158695537

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

1 SubmittersRCV003624218

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

2 SubmittersRCV003857880

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

SNV
Unknown

Chr15:76286468

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV004576407

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

SNV
Unknown

Chr4:158685141

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004576411

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

SNV
Unknown

Chr4:158706330

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

1 SubmittersRCV004576416

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