ClinVar for MedGen (Select 75696) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25745711.	NM_000126.4(ETFA):c.731C>T (p.Ala244Val) GRCh37: Chr15:76576100 GRCh38: Chr15:76283759	ETFA	A195V, A244V	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 31, 2023)	criteria provided, single submitter
Select item 24443502.	NM_004453.4(ETFDH):c.343T>A (p.Ser115Thr) GRCh37: Chr4:159603514 GRCh38: Chr4:158682362	ETFDH	S115T, S54T, S68T	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24421403.	NM_001985.3(ETFB):c.58-27C>T GRCh37: Chr19:51857589 GRCh38: Chr19:51354335	ETFB	P102S	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 24413044.	NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del) GRCh37: Chr4:159627920-159627925 GRCh38: Chr4:158706768-158706773	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Dec 23, 2020)	criteria provided, single submitter
Select item 24401115.	NM_004453.4(ETFDH):c.1471_1473delinsCAAAAGCC (p.Ser491fs) GRCh37: Chr4:159627783-159627785 GRCh38: Chr4:158706631-158706633	ETFDH	S430fs, S444fs, S491fs	Multiple acyl-CoA dehydrogenase deficiency	Likely pathogenic (Feb 14, 2022)	criteria provided, single submitter
Select item 24313996.	NM_000126.4(ETFA):c.242A>C (p.His81Pro) GRCh37: Chr15:76584986 GRCh38: Chr15:76292645	ETFA	H32P, H81P	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Nov 18, 2022)	criteria provided, single submitter
Select item 24282397.	NM_000126.4(ETFA):c.838A>C (p.Ile280Leu) GRCh37: Chr15:76523718 GRCh38: Chr15:76231377	ETFA	I231L, I280L	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 24251208.	NC_000004.11:g.(?_159616098)_(159618829_?)del GRCh37: Chr4:159616098-159618829	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 24251199.	NC_000004.11:g.(?_159606119)_(159616730_?)del GRCh37: Chr4:159606119-159616730	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Mar 7, 2022)	criteria provided, single submitter
Select item 242511810.	NC_000004.11:g.(?_159593534)_(159629689_?)del GRCh37: Chr4:159593534-159629689	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 242433811.	NC_000019.9:g.(?_51848465)_(51856564_?)dup GRCh37: Chr19:51848465-51856564	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 242433712.	NC_000019.9:g.(?_51727962)_(51890697_?)del GRCh37: Chr19:51727962-51890697	NKG7, SIGLECL1, VSIG10L, CD33, CLDND2, ETFB, IGLON5, LIM2		Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Sep 4, 2022)	criteria provided, single submitter
Select item 242239113.	NC_000015.9:g.(?_76603671)_(76603729_?)dup GRCh37: Chr15:76603671-76603729	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 242239014.	NC_000015.9:g.(?_76508900)_(76603729_?)dup GRCh37: Chr15:76508900-76603729	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 242238915.	NC_000015.9:g.(?_76580177)_(76585051_?)del GRCh37: Chr15:76580177-76585051	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 242238816.	NC_000015.9:g.(?_76508900)_(76518290_?)del GRCh37: Chr15:76508900-76518290	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 242238717.	NC_000015.9:g.(?_76518170)_(76518290_?)del GRCh37: Chr15:76518170-76518290	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 242238618.	NC_000015.9:g.(?_76523654)_(76523759_?)del GRCh37: Chr15:76523654-76523759	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 242029319.	NM_004453.4(ETFDH):c.1626C>T (p.Asp542=) GRCh37: Chr4:159627938 GRCh38: Chr4:158706786	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 241935020.	NM_001985.3(ETFB):c.22G>C (p.Val8Leu) GRCh37: Chr19:51869559 GRCh38: Chr19:51366305	ETFB	V8L	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 241902021.	NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys) GRCh37: Chr4:159618819 GRCh38: Chr4:158697667	ETFDH	E253K, E267K, E314K	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 241878022.	NM_000126.4(ETFA):c.811G>A (p.Ala271Thr) GRCh37: Chr15:76566758 GRCh38: Chr15:76274417	ETFA	A222T, A271T	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 241769423.	NM_001985.3(ETFB):c.375+7G>C GRCh37: Chr19:51856379 GRCh38: Chr19:51353125	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 241738824.	NM_004453.4(ETFDH):c.1285+17T>C GRCh37: Chr4:159624760 GRCh38: Chr4:158703608	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 241639625.	NM_004453.4(ETFDH):c.214G>A (p.Val72Ile) GRCh37: Chr4:159603385 GRCh38: Chr4:158682233	ETFDH	V11I, V25I, V72I	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 241599326.	NM_001985.3(ETFB):c.166A>C (p.Lys56Gln) GRCh37: Chr19:51857454 GRCh38: Chr19:51354200	ETFB	K147Q, K56Q	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 241559127.	NM_001985.3(ETFB):c.57+14C>G GRCh37: Chr19:51869510 GRCh38: Chr19:51366256	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 241442828.	NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg) GRCh37: Chr4:159606294 GRCh38: Chr4:158685142	ETFDH	G116R, G130R, G177R	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 241340029.	NM_000126.4(ETFA):c.268+1G>A GRCh37: Chr15:76584959 GRCh38: Chr15:76292618	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 220363130.	NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs) GRCh37: Chr4:159629666-159629667 GRCh38: Chr4:158708514-158708515	ETFDH	G555fs, G569fs, G616fs	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 220359131.	NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter) GRCh37: Chr4:159627987 GRCh38: Chr4:158706835	ETFDH	R559, R512, R498*	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 220358932.	NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val) GRCh37: Chr4:159627439 GRCh38: Chr4:158706287	ETFDH	L401V, L462V, L415V	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 220358633.	NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg) GRCh37: Chr4:159624743 GRCh38: Chr4:158703591	ETFDH	G429R, G368R, G382R	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 220358534.	NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs) GRCh37: Chr4:159624739-159624740 GRCh38: Chr4:158703587-158703588	ETFDH	I367fs, I428fs, I381fs	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 220358435.	NM_004453.4(ETFDH):c.1037A>G (p.His346Arg) GRCh37: Chr4:159620203 GRCh38: Chr4:158699051	ETFDH	H299R, H346R, H285R	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 220358336.	NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr) GRCh37: Chr4:159611536 GRCh38: Chr4:158690384	ETFDH	A154T, A215T, A168T	Multiple acyl-CoA dehydrogenase deficiency	Likely pathogenic (Oct 30, 2022)	criteria provided, single submitter
Select item 220358237.	NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser) GRCh37: Chr4:159605747 GRCh38: Chr4:158684595	ETFDH	P76S, P90S, P137S	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 220358138.	NM_004453.4(ETFDH):c.3G>C (p.Met1Ile) GRCh37: Chr4:159593611 GRCh38: Chr4:158672459	ETFDH	M1I	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 220250839.	NM_000126.4(ETFA):c.882+3A>G GRCh37: Chr15:76523671 GRCh38: Chr15:76231330	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 220190540.	NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln) GRCh37: Chr4:159627796 GRCh38: Chr4:158706644	ETFDH	R434Q, R495Q, R448Q	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 220189541.	NM_000126.4(ETFA):c.295A>G (p.Thr99Ala) GRCh37: Chr15:76584828 GRCh38: Chr15:76292487	ETFA	T50A, T99A	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 220188942.	NM_004453.4(ETFDH):c.1286-12T>C GRCh37: Chr4:159627329 GRCh38: Chr4:158706177	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 220125843.	NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr) GRCh37: Chr4:159627943 GRCh38: Chr4:158706791	ETFDH	I497T, I544T, I483T	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 220102944.	NM_000126.4(ETFA):c.451+12A>G GRCh37: Chr15:76580175 GRCh38: Chr15:76287834	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 220066545.	NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys) GRCh37: Chr4:159606318 GRCh38: Chr4:158685166	ETFDH	E138K, E124K, E185K	Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220022246.	NM_004453.4(ETFDH):c.320C>T (p.Ala107Val) GRCh37: Chr4:159603491 GRCh38: Chr4:158682339	ETFDH	A60V, A107V, A46V	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 219998747.	NM_001985.3(ETFB):c.216+10G>A GRCh37: Chr19:51857394 GRCh38: Chr19:51354140	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 219969748.	NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly) GRCh37: Chr4:159620149 GRCh38: Chr4:158698997	ETFDH	D267G, D281G, D328G	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219839349.	NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu) GRCh37: Chr4:159627966 GRCh38: Chr4:158706814	ETFDH	I505L, I552L, I491L	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 219683050.	NM_001985.3(ETFB):c.93G>C (p.Thr31=) GRCh37: Chr19:51857527 GRCh38: Chr19:51354273	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 219639251.	NM_004453.4(ETFDH):c.540G>C (p.Val180=) GRCh37: Chr4:159606305 GRCh38: Chr4:158685153	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 219597752.	NM_004453.4(ETFDH):c.714T>C (p.His238=) GRCh37: Chr4:159616678 GRCh38: Chr4:158695526	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 219301553.	NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala) GRCh37: Chr4:159620220 GRCh38: Chr4:158699068	ETFDH	T291A, T305A, T352A	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 219200754.	NM_000126.4(ETFA):c.245A>T (p.Asp82Val) GRCh37: Chr15:76584983 GRCh38: Chr15:76292642	ETFA	D33V, D82V	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 218994255.	NM_001985.3(ETFB):c.78G>T (p.Arg26Ser) GRCh37: Chr19:51857542 GRCh38: Chr19:51354288	ETFB	R26S, R117S	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 218705956.	NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly) GRCh37: Chr4:159616661 GRCh38: Chr4:158695509	ETFDH	R172G, R186G, R233G	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 218547357.	NM_004453.4(ETFDH):c.972+16A>T GRCh37: Chr4:159618867 GRCh38: Chr4:158697715	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 218544958.	NM_004453.4(ETFDH):c.607-7T>C GRCh37: Chr4:159611493 GRCh38: Chr4:158690341	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 218540959.	NM_004453.4(ETFDH):c.1120A>G (p.Ile374Val) GRCh37: Chr4:159624578 GRCh38: Chr4:158703426	ETFDH	I313V, I374V, I327V	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 218457560.	NM_004453.4(ETFDH):c.1142G>A (p.Gly381Asp) GRCh37: Chr4:159624600 GRCh38: Chr4:158703448	ETFDH	G334D, G320D, G381D	Multiple acyl-CoA dehydrogenase deficiency	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 218407361.	NM_004453.4(ETFDH):c.175+19A>G GRCh37: Chr4:159601778 GRCh38: Chr4:158680626	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 218384262.	NM_000126.4(ETFA):c.363C>T (p.Pro121=) GRCh37: Chr15:76580275 GRCh38: Chr15:76287934	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 218321563.	NM_000126.4(ETFA):c.631G>A (p.Glu211Lys) GRCh37: Chr15:76578011 GRCh38: Chr15:76285670	ETFA	E162K, E211K	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 218173964.	NM_004453.4(ETFDH):c.954A>G (p.Leu318=) GRCh37: Chr4:159618833 GRCh38: Chr4:158697681	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 218082165.	NM_004453.4(ETFDH):c.35-18T>A GRCh37: Chr4:159601601 GRCh38: Chr4:158680449	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 217944766.	NM_000126.4(ETFA):c.471G>A (p.Val157=) GRCh37: Chr15:76578803 GRCh38: Chr15:76286462	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 217799767.	NM_004453.4(ETFDH):c.487+14A>T GRCh37: Chr4:159605839 GRCh38: Chr4:158684687	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 217750668.	NM_000126.4(ETFA):c.53G>A (p.Arg18Gln) GRCh37: Chr15:76588065 GRCh38: Chr15:76295724	ETFA	R18Q	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 217673469.	NM_004453.4(ETFDH):c.655G>A (p.Val219Ile) GRCh37: Chr4:159611548 GRCh38: Chr4:158690396	ETFDH	V158I, V172I, V219I	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 217642970.	NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer) GRCh37: Chr4:159627487 GRCh38: Chr4:158706335	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 217252071.	NM_000126.4(ETFA):c.187-13C>A GRCh37: Chr15:76585054 GRCh38: Chr15:76292713	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 217148872.	NM_000126.4(ETFA):c.665-17T>C GRCh37: Chr15:76576183 GRCh38: Chr15:76283842	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 217070373.	NM_004453.4(ETFDH):c.685-4del GRCh37: Chr4:159616642 GRCh38: Chr4:158695490	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Benign (Jul 14, 2022)	criteria provided, single submitter
Select item 217017974.	NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser) GRCh37: Chr4:159624702 GRCh38: Chr4:158703550	ETFDH	F354S, F368S, F415S	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 216961875.	NM_001985.3(ETFB):c.343_345del (p.Glu115del) GRCh37: Chr19:51856416-51856418 GRCh38: Chr19:51353162-51353164	ETFB	E115del, E206del	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 216898776.	NM_001985.3(ETFB):c.498C>G (p.Ile166Met) GRCh37: Chr19:51850253 GRCh38: Chr19:51346999	ETFB	I166M, I257M	Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216866977.	NM_001985.3(ETFB):c.282A>G (p.Ala94=) GRCh37: Chr19:51856479 GRCh38: Chr19:51353225	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 216669078.	NM_000126.4(ETFA):c.955T>C (p.Leu319=) GRCh37: Chr15:76518198 GRCh38: Chr15:76225857	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 216563179.	NM_004453.4(ETFDH):c.129T>C (p.Thr43=) GRCh37: Chr4:159601713 GRCh38: Chr4:158680561	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 216560380.	NM_000126.4(ETFA):c.866G>C (p.Gly289Ala) GRCh37: Chr15:76523690 GRCh38: Chr15:76231349	ETFA	G289A, G240A	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 216434381.	NM_001985.3(ETFB):c.376-7C>T GRCh37: Chr19:51853652 GRCh38: Chr19:51350398	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 216425182.	NM_004453.4(ETFDH):c.1539G>A (p.Gln513=) GRCh37: Chr4:159627851 GRCh38: Chr4:158706699	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 216418083.	NM_004453.4(ETFDH):c.358G>C (p.Asp120His) GRCh37: Chr4:159603529 GRCh38: Chr4:158682377	ETFDH	D120H, D59H, D73H	Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases	Uncertain significance (May 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216352484.	NM_001985.3(ETFB):c.597+17C>G GRCh37: Chr19:51850137 GRCh38: Chr19:51346883	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 216314085.	NM_001985.3(ETFB):c.353A>G (p.Asp118Gly) GRCh37: Chr19:51856408 GRCh38: Chr19:51353154	ETFB	D209G, D118G	Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216201086.	NM_004453.4(ETFDH):c.1834C>A (p.Pro612Thr) GRCh37: Chr4:159629659 GRCh38: Chr4:158708507	ETFDH	P612T, P551T, P565T	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 216118887.	NM_004453.4(ETFDH):c.813C>T (p.Tyr271=) GRCh37: Chr4:159616777 GRCh38: Chr4:158695625	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 216115988.	NM_001985.3(ETFB):c.49G>T (p.Ala17Ser) GRCh37: Chr19:51869532 GRCh38: Chr19:51366278	ETFB	A17S	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 216070189.	NM_004453.4(ETFDH):c.973-13G>A GRCh37: Chr4:159620126 GRCh38: Chr4:158698974	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 215984890.	NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr) GRCh37: Chr4:159601709 GRCh38: Chr4:158680557	ETFDH	I42T	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Nov 26, 2021)	criteria provided, single submitter
Select item 215984291.	NM_004453.4(ETFDH):c.608T>C (p.Val203Ala) GRCh37: Chr4:159611501 GRCh38: Chr4:158690349	ETFDH	V142A, V156A, V203A	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 215963592.	NM_001985.3(ETFB):c.152G>A (p.Arg51Gln) GRCh37: Chr19:51857468 GRCh38: Chr19:51354214	ETFB	R142Q, R51Q	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 215830093.	NM_000126.4(ETFA):c.136C>T (p.Arg46Cys) GRCh37: Chr15:76587982 GRCh38: Chr15:76295641	ETFA	R46C	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 215763294.	NM_000126.4(ETFA):c.934G>A (p.Asp312Asn) GRCh37: Chr15:76518219 GRCh38: Chr15:76225878	ETFA	D263N, D312N	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 215476595.	NM_000126.4(ETFA):c.668G>A (p.Arg223Gln) GRCh37: Chr15:76576163 GRCh38: Chr15:76283822	ETFA	R223Q, R174Q	not provided, Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jan 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215451596.	NM_001985.3(ETFB):c.186C>T (p.Ile62=) GRCh37: Chr19:51857434 GRCh38: Chr19:51354180	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 215303597.	NM_000126.4(ETFA):c.84T>C (p.His28=) GRCh37: Chr15:76588034 GRCh38: Chr15:76295693	ETFA		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 215199398.	NM_004453.4(ETFDH):c.1117-2A>G GRCh37: Chr4:159624573 GRCh38: Chr4:158703421	ETFDH		Multiple acyl-CoA dehydrogenase deficiency	Likely pathogenic (Dec 22, 2021)	criteria provided, single submitter
Select item 215199299.	NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe) GRCh37: Chr4:159605750 GRCh38: Chr4:158684598	ETFDH	L138F, L77F, L91F	not specified, Multiple acyl-CoA dehydrogenase deficiency	Conflicting interpretations of pathogenicity (May 5, 2023)	criteria provided, conflicting interpretations
Select item 2150332100.	NM_001985.3(ETFB):c.190G>A (p.Val64Ile) GRCh37: Chr19:51857430 GRCh38: Chr19:51354176	ETFB	V155I, V64I	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (May 3, 2022)	criteria provided, single submitter

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