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	Conflicting classifications of pathogenicity	Glutaric acidemia IIc Multiple acyl-CoA dehydrogenase deficiency Condition: not provided See cases	Criteria Provided Conflicting Classifications	CA121817	rs_121964954	12 SubmittersRCV000012808 RCV000553294 RCV000224728 RCV003231099
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu)	SNV Germline	Chr4:158685137	Pathogenic	Glutaric acidemia IIc Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided 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_000546.6(TP53):c.733G>A (p.Gly245Ser)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-fraumeni-like syndrome Adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Lung adenocarcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Carcinoma of esophagus Brainstem glioma Squamous cell lung carcinoma Neoplasm of brain Gastric adenocarcinoma Pancreatic adenocarcinoma Li-Fraumeni syndrome Atypical teratoid rhabdoid tumor Astrocytoma, anaplastic Prostate adenocarcinoma Glioblastoma Neoplasm Breast neoplasm Hepatocellular carcinoma Neoplasm of the large intestine Neoplasm of ovary Familial ovarian cancer Breast carcinoma Colorectal cancer 12 conditions Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Gastric cancer TP53-related disorder Xeroderma pigmentosum Multiple acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA000367	rs_28934575	31 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000421457 RCV000432898 RCV000442506 RCV000419767 RCV000426307 RCV000428113 RCV000438107 RCV000426990 RCV000430925 RCV000432120 RCV000437643 RCV000226657 RCV000587017 RCV000588736 RCV000417419 RCV000420452 RCV000425581 RCV000436979 RCV000438801 RCV000442529 RCV000785316 RCV001354825 RCV001642222 RCV001270274 RCV002496337 RCV003332080 RCV003460464 RCV003162245 RCV003914832 RCV004540999 RCV004526594
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)	SNV Germline	Chr19:51347006	Likely pathogenic	Glutaric acidemia IIb Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA126841	rs_104894677	3 SubmittersRCV000018200 RCV001235936
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	Glutaric acidemia IIc Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA129815	rs_121964955	5 SubmittersRCV000024282 RCV001216553 RCV001826506
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	9 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 Glutaric acidemia type 2C Condition: not provided Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II	Criteria Provided Multiple Submitters No Conflicts	CA129836	rs_377656387	9 SubmittersRCV000024306 RCV000634896 RCV001831606 RCV002054473 RCV001250164
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)	SNV Germline	Chr7:117534280	Pathogenic	Cystic fibrosis CFTR-related disorder Multiple acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA327535	rs_397508736	6 SubmittersRCV000576939 RCV001826690 RCV004525865
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	Criteria Provided Multiple Submitters No Conflicts	CA346892	rs_377686388	7 SubmittersRCV000180601 RCV000723385 RCV001826924
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala)	SNV Germline	Chr4:158680523	Conflicting classifications of pathogenicity	not specified Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312521	rs_182144074	2 SubmittersRCV000185888 RCV000297924
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.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	Criteria Provided Multiple Submitters No Conflicts		rs_558005496	5 SubmittersRCV001053110
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	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2A	Criteria Provided Conflicting Classifications	CA7673764	rs_199673198	3 SubmittersRCV000224700 RCV001081384 RCV001272688
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)	SNV Germline	Chr4:158708505	Pathogenic/Likely pathogenic	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA3122732	rs_761669036	5 SubmittersRCV000255489 RCV001069003 RCV001833298
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	Criteria Provided Conflicting Classifications	CA3122276	rs_566605780	3 SubmittersRCV000341906
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	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3122652	rs_146882697	3 SubmittersRCV001703659 RCV001145314
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	4 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	Conflicting classifications of pathogenicity	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2A	Criteria Provided Conflicting Classifications	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	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Multiple Submitters No Conflicts	CA3122617	rs_746598421	5 SubmittersRCV000554634 RCV001834766
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)	SNV Germline	Chr4:158690420	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA3122427	rs_141407224	2 SubmittersRCV000558221
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	Criteria Provided Multiple Submitters No Conflicts		rs_773668457	5 SubmittersRCV000699705 RCV001814220
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.831+4T>C	SNV Germline	Chr4:158695647	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_752971257	3 SubmittersRCV000698477 RCV001585642 RCV002534358
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys)	SNV Germline	Chr19:51346932	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		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	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C	Criteria Provided Conflicting Classifications		rs_767249944	4 SubmittersRCV000778725 RCV001830667
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	2 SubmittersRCV000813251
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)	SNV Germline	Chr4:158695582	Pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_780015493	8 SubmittersRCV000824611
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	4 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	Criteria Provided Multiple Submitters No Conflicts		rs_199979286	2 SubmittersRCV000986423 RCV001382523
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	Multiple acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_754418186	4 SubmittersRCV000987489 RCV002222651
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser)	SNV Unknown	Chr4:158706707	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		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	Condition: not provided Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_754795292	4 SubmittersRCV001772343 RCV001147256
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	Criteria Provided Conflicting Classifications		rs_754082348	2 SubmittersRCV001243666
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	3 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	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_534388496	5 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	Criteria Provided Conflicting Classifications		rs_796051965	6 SubmittersRCV001329258 RCV001509240 RCV001844286
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)	SNV Germline	Chr4:158695598	Conflicting classifications of pathogenicity	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1450977775	3 SubmittersRCV001329259
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	Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_750189181	2 SubmittersRCV001377957
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	3 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	Criteria Provided Multiple Submitters No Conflicts		rs_764164607	2 SubmittersRCV001976471
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	Pathogenic/Likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_148045813	3 SubmittersRCV001939613
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	2 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	Criteria Provided Conflicting Classifications		rs_150105001	3 SubmittersRCV002210294 RCV002261450
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 ETFDH-related disorder Multiple acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002461618 RCV003408283 RCV003103104
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.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_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 Multiple acyl-CoA dehydrogenase deficiency ETFDH-related disorder	Criteria Provided Conflicting Classifications			3 SubmittersRCV003388535 RCV003475572 RCV003420682
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.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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA121817

rs_121964954

12 SubmittersRCV000012808 RCV000553294 RCV000224728 RCV003231099

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

SNV
Germline

Chr4:158685137

Pathogenic

Glutaric acidemia IIc
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
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_000546.6(TP53):c.733G>A (p.Gly245Ser)

SNV
Germline/somatic

Chr17:7674230

Pathogenic

Li-fraumeni-like syndrome
Adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
Carcinoma of esophagus
Brainstem glioma
Squamous cell lung carcinoma
Neoplasm of brain
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Atypical teratoid rhabdoid tumor
Astrocytoma, anaplastic
Prostate adenocarcinoma
Glioblastoma
Neoplasm
Breast neoplasm
Hepatocellular carcinoma
Neoplasm of the large intestine
Neoplasm of ovary
Familial ovarian cancer
Breast carcinoma
Colorectal cancer
12 conditions
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
Gastric cancer
TP53-related disorder
Xeroderma pigmentosum
Multiple acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA000367

rs_28934575

31 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000421457 RCV000432898 RCV000442506 RCV000419767 RCV000426307 RCV000428113 RCV000438107 RCV000426990 RCV000430925 RCV000432120 RCV000437643 RCV000226657 RCV000587017 RCV000588736 RCV000417419 RCV000420452 RCV000425581 RCV000436979 RCV000438801 RCV000442529 RCV000785316 RCV001354825 RCV001642222 RCV001270274 RCV002496337 RCV003332080 RCV003460464 RCV003162245 RCV003914832 RCV004540999 RCV004526594

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

SNV
Germline

Chr19:51347006

Likely pathogenic

Glutaric acidemia IIb
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA126841

rs_104894677

3 SubmittersRCV000018200 RCV001235936

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA129815

rs_121964955

5 SubmittersRCV000024282 RCV001216553 RCV001826506

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

9 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
Glutaric acidemia type 2C
Condition: not provided
Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA129836

rs_377656387

9 SubmittersRCV000024306 RCV000634896 RCV001831606 RCV002054473 RCV001250164

NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)

SNV
Germline

Chr7:117534280

Pathogenic

Cystic fibrosis
CFTR-related disorder
Multiple acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA327535

rs_397508736

6 SubmittersRCV000576939 RCV001826690 RCV004525865

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346892

rs_377686388

7 SubmittersRCV000180601 RCV000723385 RCV001826924

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

SNV
Germline

Chr4:158680523

Conflicting classifications of pathogenicity

not specified
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312521

rs_182144074

2 SubmittersRCV000185888 RCV000297924

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.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

Criteria Provided
Multiple Submitters
No Conflicts

rs_558005496

5 SubmittersRCV001053110

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

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

Criteria Provided
Conflicting Classifications

CA7673764

rs_199673198

3 SubmittersRCV000224700 RCV001081384 RCV001272688

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

SNV
Germline

Chr4:158708505

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3122732

rs_761669036

5 SubmittersRCV000255489 RCV001069003 RCV001833298

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

Criteria Provided
Conflicting Classifications

CA3122276

rs_566605780

3 SubmittersRCV000341906

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

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3122652

rs_146882697

3 SubmittersRCV001703659 RCV001145314

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

4 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3122617

rs_746598421

5 SubmittersRCV000554634 RCV001834766

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

SNV
Germline

Chr4:158690420

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3122427

rs_141407224

2 SubmittersRCV000558221

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_773668457

5 SubmittersRCV000699705 RCV001814220

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.831+4T>C

SNV
Germline

Chr4:158695647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752971257

3 SubmittersRCV000698477 RCV001585642 RCV002534358

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

SNV
Germline

Chr19:51346932

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

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

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C

Criteria Provided
Conflicting Classifications

rs_767249944

4 SubmittersRCV000778725 RCV001830667

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

2 SubmittersRCV000813251

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

SNV
Germline

Chr4:158695582

Pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_780015493

8 SubmittersRCV000824611

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

4 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_199979286

2 SubmittersRCV000986423 RCV001382523

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

Multiple acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_754418186

4 SubmittersRCV000987489 RCV002222651

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

SNV
Unknown

Chr4:158706707

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

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

Condition: not provided
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_754795292

4 SubmittersRCV001772343 RCV001147256

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

Criteria Provided
Conflicting Classifications

rs_754082348

2 SubmittersRCV001243666

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

3 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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_534388496

5 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

Criteria Provided
Conflicting Classifications

rs_796051965

6 SubmittersRCV001329258 RCV001509240 RCV001844286

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

SNV
Germline

Chr4:158695598

Conflicting classifications of pathogenicity

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1450977775

3 SubmittersRCV001329259

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

Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_750189181

2 SubmittersRCV001377957

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

3 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_764164607

2 SubmittersRCV001976471

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

Pathogenic/Likely pathogenic

Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_148045813

3 SubmittersRCV001939613

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

2 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

Criteria Provided
Conflicting Classifications

rs_150105001

3 SubmittersRCV002210294 RCV002261450

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
ETFDH-related disorder
Multiple acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002461618 RCV003408283 RCV003103104

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.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_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
Multiple acyl-CoA dehydrogenase deficiency
ETFDH-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003388535 RCV003475572 RCV003420682

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