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Variants search result for All species
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554 records found for search term Etfa
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8556906CV17635deletionETFA, 3-BP DEL, NT808Glutaric acidemia IIa [RCV000002714]pathogenicHumanname , alternate_id
405259702CV3195135single nucleotide variantNM_000126.4(ETFA):c.-8C>TETFA-related disorder [RCV003894332]likely benign157631139676311396Humanname , trait , alternate_id
11614772CV339909single nucleotide variantNM_000126.4(ETFA):c.-7G>AMultiple acyl-CoA dehydrogenase deficiency [RCV000279388]uncertain significance157631139576311395Human1name
40905154CV979680single nucleotide variantNM_000126.4(ETFA):c.-9G>TMultiple acyl-CoA dehydrogenase deficiency [RCV001278289]uncertain significance157631139776311397Human1name
11647657CV323399single nucleotide variantNM_000126.4(ETFA):c.*55C>GMultiple acyl-CoA dehydrogenase deficiency [RCV000277782]uncertain significance157621650476216504Human1name
11623199CV333074single nucleotide variantNM_000126.4(ETFA):c.*99G>AMultiple acyl-CoA dehydrogenase deficiency [RCV000370060]uncertain significance157621646076216460Human1name
11620457CV333079single nucleotide variantNM_000126.4(ETFA):c.-56C>AMultiple acyl-CoA dehydrogenase deficiency [RCV000337033]uncertain significance157631144476311444Human1name
11623612CV339913single nucleotide variantNM_000126.4(ETFA):c.-59C>TMultiple acyl-CoA dehydrogenase deficiency [RCV000375267]uncertain significance157631144776311447Human1name
11616199CV341328single nucleotide variantNM_000126.4(ETFA):c.-71T>CMultiple acyl-CoA dehydrogenase deficiency [RCV000292449]|not provided [RCV001549300]likely benign|uncertain significance157631145976311459Human1name
12841320CV373685single nucleotide variantNM_000126.4(ETFA):c.-42C>TMultiple acyl-CoA dehydrogenase deficiency [RCV001119611]|not specified [RCV000432359]likely benign|uncertain significance157631143076311430Human1name
12847657CV374754single nucleotide variantNM_000126.4(ETFA):c.-24G>Tnot provided [RCV001721309]likely benign157631141276311412Humanname
12842300CV376664single nucleotide variantNM_000126.4(ETFA):c.-40G>AMultiple acyl-CoA dehydrogenase deficiency [RCV001330796]|not provided [RCV001703800]likely benign|uncertain significance157631142876311428Human1name
13540359CV505195single nucleotide variantNM_000126.4(ETFA):c.-31T>Cnot specified [RCV000614591]likely benign157631141976311419Humanname
13532814CV505388single nucleotide variantNM_000126.4(ETFA):c.-48C>Tnot specified [RCV000601482]likely benign157631143676311436Humanname
28892912CV874187single nucleotide variantNM_000126.4(ETFA):c.*46C>TMultiple acyl-CoA dehydrogenase deficiency [RCV001121507]|not provided [RCV004693758]uncertain significance157621651376216513Human1name
28887336CV874192single nucleotide variantNM_000126.4(ETFA):c.-71T>GMultiple acyl-CoA dehydrogenase deficiency [RCV001119612]uncertain significance157631145976311459Human1name
127235810CV1081356single nucleotide variantNM_000126.4(ETFA):c.39+8C>TMultiple acyl-CoA dehydrogenase deficiency [RCV001396775]likely benign157631134276311342Human1name
127316483CV1124598single nucleotide variantNM_000126.4(ETFA):c.39+9G>AMultiple acyl-CoA dehydrogenase deficiency [RCV001465554]likely benign157631134176311341Human1name
152101041CV1606813single nucleotide variantNM_000126.4(ETFA):c.40-8C>TMultiple acyl-CoA dehydrogenase deficiency [RCV002195552]likely benign157629574576295745Human1name
155957856CV2078460single nucleotide variantNM_000126.4(ETFA):c.39+8C>GMultiple acyl-CoA dehydrogenase deficiency [RCV002880867]likely benign157631134276311342Human1name
404992451CV2866983single nucleotide variantNM_000126.4(ETFA):c.39+7C>TMultiple acyl-CoA dehydrogenase deficiency [RCV003512967]likely benign157631134376311343Human1name
404993680CV2875081single nucleotide variantNM_000126.4(ETFA):c.39+1G>TMultiple acyl-CoA dehydrogenase deficiency [RCV003513097]likely pathogenic157631134976311349Human1name
404982992CV2920342single nucleotide variantNM_000126.4(ETFA):c.39+1G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003511830]likely pathogenic157631134976311349Human1name
402471755CV3060828single nucleotide variantNM_000126.4(ETFA):c.39+9G>CMultiple acyl-CoA dehydrogenase deficiency [RCV003624322]likely benign157631134176311341Human1name
11624757CV333069single nucleotide variantNM_000126.4(ETFA):c.*268A>GMultiple acyl-CoA dehydrogenase deficiency [RCV000390524]|not provided [RCV001712030]benign|likely benign157621629176216291Human1name
11618362CV333071single nucleotide variantNM_000126.4(ETFA):c.*216A>TMultiple acyl-CoA dehydrogenase deficiency [RCV000313076]|not provided [RCV001712106]benign157621634376216343Human1name
14730361CV668019single nucleotide variantNM_000126.3(ETFA):c.-199G>Anot provided [RCV000835641]benign157631158776311587Humanname
127275582CV1081344single nucleotide variantNM_000126.4(ETFA):c.883-6T>CETFA-related disorder [RCV003930868]|Multiple acyl-CoA dehydrogenase deficiency [RCV001406775]likely benign157622593576225935Human1name , trait , alternate_id
127278238CV1081350single nucleotide variantNM_000126.4(ETFA):c.352-8G>TMultiple acyl-CoA dehydrogenase deficiency [RCV001408371]likely benign157628795376287953Human1name
127282182CV1103151single nucleotide variantNM_000126.4(ETFA):c.882+7G>CMultiple acyl-CoA dehydrogenase deficiency [RCV001447666]likely benign157623132676231326Human1name
127270996CV1103152single nucleotide variantNM_000126.4(ETFA):c.882+7G>AMultiple acyl-CoA dehydrogenase deficiency [RCV001430795]likely benign157623132676231326Human1name
127273097CV1103155single nucleotide variantNM_000126.4(ETFA):c.351+8G>AMultiple acyl-CoA dehydrogenase deficiency [RCV001431545]likely benign157629242376292423Human1name
127250800CV1103158single nucleotide variantNM_000126.4(ETFA):c.186+9T>CMultiple acyl-CoA dehydrogenase deficiency [RCV001425444]likely benign157629558276295582Human1name
127300362CV1124588deletionNM_000126.4(ETFA):c.963+9delMultiple acyl-CoA dehydrogenase deficiency [RCV001453870]likely benign157622584076225840Human1name
127321707CV1124590single nucleotide variantNM_000126.4(ETFA):c.882+8T>CMultiple acyl-CoA dehydrogenase deficiency [RCV001467349]likely benign157623132576231325Human1name
127325820CV1124596single nucleotide variantNM_000126.4(ETFA):c.187-4A>TMultiple acyl-CoA dehydrogenase deficiency [RCV001468610]likely benign157629270476292704Human1name
127332281CV1145444single nucleotide variantNM_000126.4(ETFA):c.563-6A>GMultiple acyl-CoA dehydrogenase deficiency [RCV001489399]likely benign157628574476285744Human1name
127322027CV1145449single nucleotide variantNM_000126.4(ETFA):c.269-5C>TMultiple acyl-CoA dehydrogenase deficiency [RCV001484817]likely benign157629251876292518Human1name
150418950CV1198684single nucleotide variantNM_000126.4(ETFA):c.39+85C>Gnot provided [RCV001576961]likely benign157631126576311265Humanname
150448996CV1202384single nucleotide variantNM_000126.4(ETFA):c.39+31G>Cnot provided [RCV001584981]likely benign157631131976311319Humanname
150482517CV1223438deletionNM_000126.4(ETFA):c.39+80delnot provided [RCV001617151]benign157631127076311270Humanname
150513395CV1228995duplicationNM_000126.4(ETFA):c.40-66dupnot provided [RCV001637837]benign157629578676295787Humanname
150435308CV1244383single nucleotide variantNM_000126.4(ETFA):c.40-45G>Cnot provided [RCV001665374]likely benign157629578276295782Humanname
150463954CV1252597deletionNM_000126.4(ETFA):c.40-50delnot provided [RCV001669920]benign157629578776295787Humanname
151761783CV1346571single nucleotide variantNM_000126.4(ETFA):c.269-8A>GMultiple acyl-CoA dehydrogenase deficiency [RCV001970276]uncertain significance157629252176292521Human1name
151875452CV1459888single nucleotide variantNM_000126.4(ETFA):c.186+1G>AMultiple acyl-CoA dehydrogenase deficiency [RCV002036201]likely pathogenic157629559076295590Human1name
151842096CV1473506single nucleotide variantNM_000126.4(ETFA):c.452-2A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002031943]likely pathogenic157628648376286483Human1name
152150419CV1531373single nucleotide variantNM_000126.4(ETFA):c.883-4A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002201876]likely benign157622593376225933Human1name
152032762CV1537916single nucleotide variantNM_000126.4(ETFA):c.816+9T>AMultiple acyl-CoA dehydrogenase deficiency [RCV002186958]likely benign157627440376274403Human1name
152032298CV1548967single nucleotide variantNM_000126.4(ETFA):c.883-9A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002086550]likely benign157622593876225938Human1name
152069292CV1566839duplicationNM_000126.4(ETFA):c.883-9dupMultiple acyl-CoA dehydrogenase deficiency [RCV002111228]likely benign157622593776225938Human1name
152107007CV1577770duplicationNM_000126.4(ETFA):c.40-19dupMultiple acyl-CoA dehydrogenase deficiency [RCV002096311]benign157629575576295756Human1name
152052227CV1581025single nucleotide variantNM_000126.4(ETFA):c.563-5T>CMultiple acyl-CoA dehydrogenase deficiency [RCV002089301]likely benign157628574376285743Human1name
152128215CV1584093single nucleotide variantNM_000126.4(ETFA):c.964-4G>AMultiple acyl-CoA dehydrogenase deficiency [RCV002082507]likely benign157621660176216601Human1name
152085710CV1599265single nucleotide variantNM_000126.4(ETFA):c.563-8G>AMultiple acyl-CoA dehydrogenase deficiency [RCV002093451]likely benign157628574676285746Human1name
152074501CV1647527single nucleotide variantNM_000126.4(ETFA):c.40-16T>GMultiple acyl-CoA dehydrogenase deficiency [RCV002210414]likely benign157629575376295753Human1name
152075788CV1653053single nucleotide variantNM_000126.4(ETFA):c.882+7G>TMultiple acyl-CoA dehydrogenase deficiency [RCV002148677]likely benign157623132676231326Human1name
152099872CV1655205single nucleotide variantNM_000126.4(ETFA):c.351+8G>CMultiple acyl-CoA dehydrogenase deficiency [RCV002115186]likely benign157629242376292423Human1name
8556907CV17636deletionNM_000126.4(ETFA):c.963+1delGlutaric acidemia IIa [RCV000002715]|Multiple acyl-CoA dehydrogenase deficiency [RCV002496235]|not specified [RCV003155011]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance157622584876225848Human1name , alternate_id
156318790CV1876177deletionNM_000126.4(ETFA):c.40-19delMultiple acyl-CoA dehydrogenase deficiency [RCV003062925]benign157629575676295756Human1name
156394554CV1876414single nucleotide variantNM_000126.4(ETFA):c.883-5C>TMultiple acyl-CoA dehydrogenase deficiency [RCV003068434]likely benign157622593476225934Human1name
156156954CV1928158single nucleotide variantNM_000126.4(ETFA):c.882+3A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002664099]uncertain significance157623133076231330Human1name
156434015CV1946736single nucleotide variantNM_000126.4(ETFA):c.268+1G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003104196]likely pathogenic157629261876292618Human1name
155977485CV1972237single nucleotide variantNM_000126.4(ETFA):c.187-3T>CMultiple acyl-CoA dehydrogenase deficiency [RCV002617453]uncertain significance157629270376292703Human1name
156214630CV1997354single nucleotide variantNM_000126.4(ETFA):c.665-4T>CMultiple acyl-CoA dehydrogenase deficiency [RCV002666978]likely benign157628382976283829Human1name
10056186CV200298single nucleotide variantNM_000126.4(ETFA):c.186+7A>GGlutaric acidemia type 2A [RCV001833109]|Multiple acyl-CoA dehydrogenase deficiency [RCV000323787]|not provided [RCV000676980]|not specified [RCV000185862]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance157629558476295584Human2name
156077209CV2011844single nucleotide variantNM_000126.4(ETFA):c.452-9A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002705871]likely benign157628649076286490Human1name
156104773CV2038454single nucleotide variantNM_000126.4(ETFA):c.963+8G>AMultiple acyl-CoA dehydrogenase deficiency [RCV002761451]likely benign157622584176225841Human1name
156004629CV2054232single nucleotide variantNM_000126.4(ETFA):c.817-7A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002819819]likely benign157623140576231405Human1name
156185033CV2055650single nucleotide variantNM_000126.4(ETFA):c.817-8T>GMultiple acyl-CoA dehydrogenase deficiency [RCV002828429]likely benign157623140676231406Human1name
155993782CV2063899single nucleotide variantNM_000126.4(ETFA):c.733+8T>AMultiple acyl-CoA dehydrogenase deficiency [RCV002843083]likely benign157628374976283749Human1name
156068862CV2065687single nucleotide variantNM_000126.4(ETFA):c.562+8T>CMultiple acyl-CoA dehydrogenase deficiency [RCV002847011]likely benign157628636376286363Human1name
156017030CV2083536single nucleotide variantNM_000126.4(ETFA):c.562+8T>GMultiple acyl-CoA dehydrogenase deficiency [RCV002866412]likely benign157628636376286363Human1name
156292272CV2111465single nucleotide variantNM_000126.4(ETFA):c.563-9T>CMultiple acyl-CoA dehydrogenase deficiency [RCV002922202]likely benign157628574776285747Human1name
156136290CV2141100single nucleotide variantNM_000126.4(ETFA):c.352-2A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002982147]likely pathogenic157628794776287947Human1name
156364088CV2176753single nucleotide variantNM_000126.4(ETFA):c.563-4G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003049222]likely benign157628574276285742Human1name
156094772CV2183453single nucleotide variantNM_000126.4(ETFA):c.664+8A>TMultiple acyl-CoA dehydrogenase deficiency [RCV003054493]likely benign157628562976285629Human1name
401949733CV2834353single nucleotide variantNM_000126.4(ETFA):c.268+1G>CMultiple acyl-CoA dehydrogenase deficiency [RCV003475604]likely pathogenic157629261876292618Human1name
401949736CV2834356duplicationNM_000126.4(ETFA):c.664+2dupMultiple acyl-CoA dehydrogenase deficiency [RCV003475607]likely pathogenic157628563476285635Human1name
401949737CV2834357single nucleotide variantNM_000126.4(ETFA):c.665-1G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003475608]likely pathogenic157628382676283826Human1name
401949739CV2834359single nucleotide variantNM_000126.4(ETFA):c.451+1G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003475610]likely pathogenic157628784576287845Human1name
404992096CV2856867single nucleotide variantNM_000126.4(ETFA):c.817-2A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003512928]likely pathogenic157623140076231400Human1name
404992549CV2877650single nucleotide variantNM_000126.4(ETFA):c.817-5T>AMultiple acyl-CoA dehydrogenase deficiency [RCV003512978]likely benign157623140376231403Human1name
404994190CV2879380single nucleotide variantNM_000126.4(ETFA):c.733+9A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003513168]likely benign157628374876283748Human1name
404997466CV2889993single nucleotide variantNM_000126.4(ETFA):c.40-17C>AMultiple acyl-CoA dehydrogenase deficiency [RCV003513481]likely benign157629575476295754Human1name
404998449CV2890861single nucleotide variantNM_000126.4(ETFA):c.40-19T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003513571]likely benign157629575676295756Human1name
404996888CV2892837single nucleotide variantNM_000126.4(ETFA):c.186+7A>CMultiple acyl-CoA dehydrogenase deficiency [RCV003513425]likely benign157629558476295584Human1name
404999893CV2899227single nucleotide variantNM_000126.4(ETFA):c.269-5C>AMultiple acyl-CoA dehydrogenase deficiency [RCV003513730]likely benign157629251876292518Human1name
404981753CV2904548single nucleotide variantNM_000126.4(ETFA):c.39+14G>TMultiple acyl-CoA dehydrogenase deficiency [RCV003511647]likely benign157631133676311336Human1name
404982239CV2913046single nucleotide variantNM_000126.4(ETFA):c.452-7G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003511728]likely benign157628648876286488Human1name
404990297CV2927421single nucleotide variantNM_000126.4(ETFA):c.269-2A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003512741]likely pathogenic157629251576292515Human1name
404990528CV2927676single nucleotide variantNM_000126.4(ETFA):c.39+11A>CMultiple acyl-CoA dehydrogenase deficiency [RCV003512765]likely benign157631133976311339Human1name
404988011CV2930560single nucleotide variantNM_000126.4(ETFA):c.186+8A>TMultiple acyl-CoA dehydrogenase deficiency [RCV003512509]likely benign157629558376295583Human1name
404990039CV2932897single nucleotide variantNM_000126.4(ETFA):c.351+1G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003512715]likely pathogenic157629243076292430Human1name
402473028CV2945878single nucleotide variantNM_000126.4(ETFA):c.39+17A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003624668]likely benign157631133376311333Human1name
402473091CV2949459deletionNM_000126.4(ETFA):c.734-9delMultiple acyl-CoA dehydrogenase deficiency [RCV003624682]benign157627450376274503Human1name
402473397CV2958221deletionNM_000126.4(ETFA):c.817-8delMultiple acyl-CoA dehydrogenase deficiency [RCV003624766]benign157623140676231406Human1name
402475112CV2964370single nucleotide variantNM_000126.4(ETFA):c.964-4G>TMultiple acyl-CoA dehydrogenase deficiency [RCV003625124]likely benign157621660176216601Human1name
402475484CV2965812single nucleotide variantNM_000126.4(ETFA):c.352-1G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003625195]likely pathogenic157628794676287946Human1name
402476683CV2982927single nucleotide variantNM_000126.4(ETFA):c.734-8C>TMultiple acyl-CoA dehydrogenase deficiency [RCV003625425]likely benign157627450276274502Human1name
402477695CV3002367single nucleotide variantNM_000126.4(ETFA):c.734-2A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003625606]likely pathogenic157627449676274496Human1name
402479345CV3012929single nucleotide variantNM_000126.4(ETFA):c.452-7G>TMultiple acyl-CoA dehydrogenase deficiency [RCV003625848]likely benign157628648876286488Human1name
402470273CV3031002single nucleotide variantNM_000126.4(ETFA):c.351+2T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003623931]likely pathogenic157629242976292429Human1name
402473960CV3069792single nucleotide variantNM_000126.4(ETFA):c.352-7C>TMultiple acyl-CoA dehydrogenase deficiency [RCV003624907]likely benign157628795276287952Human1name
402474550CV3076628deletionNM_000126.4(ETFA):c.39+18delMultiple acyl-CoA dehydrogenase deficiency [RCV003625017]likely benign157631133276311332Human1name
405093481CV3134646single nucleotide variantNM_000126.4(ETFA):c.39+19G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003834992]likely benign157631133176311331Human1name
405241324CV3176848single nucleotide variantNM_000126.4(ETFA):c.733+8T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003867286]likely benign157628374976283749Human1name
405873978CV3400397single nucleotide variantNM_000126.4(ETFA):c.451+1G>TMultiple acyl-CoA dehydrogenase deficiency [RCV004576400]likely pathogenic157628784576287845Human1name
408381562CV3518084single nucleotide variantNM_000126.4(ETFA):c.964-1G>AMultiple acyl-CoA dehydrogenase deficiency [RCV004732510]likely pathogenic157621659876216598Human1name
597632647CV3704331single nucleotide variantNM_000126.4(ETFA):c.562+1G>TMultiple acyl-CoA dehydrogenase deficiency [RCV005003208]likely pathogenic157628637076286370Human1name
597872724CV3768782single nucleotide variantNM_000126.4(ETFA):c.817-9T>GMultiple acyl-CoA dehydrogenase deficiency [RCV005122952]likely benign157623140776231407Human1name
597953192CV3775841single nucleotide variantNM_000126.4(ETFA):c.817-7A>TMultiple acyl-CoA dehydrogenase deficiency [RCV005121384]likely benign157623140576231405Human1name
598127898CV3882951single nucleotide variantNM_000126.4(ETFA):c.186+5G>AMultiple acyl-CoA dehydrogenase deficiency [RCV005234484]uncertain significance157629558676295586Human1name
13528619CV504964single nucleotide variantNM_000126.4(ETFA):c.882+5T>CMultiple acyl-CoA dehydrogenase deficiency [RCV001860309]|not specified [RCV000605516]likely benign|uncertain significance157623132876231328Human1name
13828875CV581772single nucleotide variantNM_000126.4(ETFA):c.964-1G>CMultiple acyl-CoA dehydrogenase deficiency [RCV000721997]uncertain significance157621659876216598Human1name
14704793CV652432single nucleotide variantNM_000126.4(ETFA):c.882+6T>GGlutaric acidemia type 2A [RCV001830716]|Multiple acyl-CoA dehydrogenase deficiency [RCV000798664]uncertain significance157623132776231327Human2name
15202701CV776419single nucleotide variantNM_000126.4(ETFA):c.882+9A>GGlutaric acidemia type 2A [RCV001272687]|Multiple acyl-CoA dehydrogenase deficiency [RCV001480517]likely benign|uncertain significance157623132476231324Human2name
15151613CV778348single nucleotide variantNM_000126.4(ETFA):c.40-10C>TMultiple acyl-CoA dehydrogenase deficiency [RCV000945721]likely benign157629574776295747Human1name
15119542CV787909single nucleotide variantNM_000126.4(ETFA):c.186+9T>AMultiple acyl-CoA dehydrogenase deficiency [RCV001446668]likely benign157629558276295582Human1name
15107402CV788172single nucleotide variantNM_000126.4(ETFA):c.816+8T>AMultiple acyl-CoA dehydrogenase deficiency [RCV000976820]likely benign157627440476274404Human1name
26894094CV852609single nucleotide variantNM_000126.4(ETFA):c.664+1G>AMultiple acyl-CoA dehydrogenase deficiency [RCV001069226]likely pathogenic157628563676285636Human1name
28882230CV876577single nucleotide variantNM_000126.4(ETFA):c.268+3G>AMultiple acyl-CoA dehydrogenase deficiency [RCV001118069]uncertain significance157629261676292616Human1name
40904710CV979670single nucleotide variantNM_000126.4(ETFA):c.883-3C>TMultiple acyl-CoA dehydrogenase deficiency [RCV001277755]uncertain significance157622593276225932Human1name
40904713CV979673single nucleotide variantNM_000126.4(ETFA):c.351+9G>AMultiple acyl-CoA dehydrogenase deficiency [RCV001277759]likely benign|uncertain significance157629242276292422Human1name
8639368CV98351single nucleotide variantNM_000126.4(ETFA):c.39+12C>GMultiple acyl-CoA dehydrogenase deficiency [RCV000371483]|not provided [RCV001610351]|not specified [RCV000078133]benign157631133876311338Human1name
127277262CV1081343single nucleotide variantNM_000126.4(ETFA):c.964-10T>CMultiple acyl-CoA dehydrogenase deficiency [RCV001407657]likely benign157621660776216607Human1name
127334329CV1145440single nucleotide variantNM_000126.4(ETFA):c.883-10T>CMultiple acyl-CoA dehydrogenase deficiency [RCV001490762]likely benign157622593976225939Human1name
127293262CV1157535deletionNM_000126.4(ETFA):c.665-17delMultiple acyl-CoA dehydrogenase deficiency [RCV001511263]benign157628384276283842Human1name
127286337CV1161921single nucleotide variantNM_000126.4(ETFA):c.817-32A>GMultiple acyl-CoA dehydrogenase deficiency [RCV001526776]|not provided [RCV001692437]benign157623143076231430Human1name
127286339CV1161922single nucleotide variantNM_000126.4(ETFA):c.733+38T>CMultiple acyl-CoA dehydrogenase deficiency [RCV001526777]|not provided [RCV004715477]benign157628371976283719Human1name
150417268CV1181300single nucleotide variantNM_000126.4(ETFA):c.817-85A>Tnot provided [RCV001550046]likely benign157623148376231483Humanname
150417943CV1194990deletionNM_000126.4(ETFA):c.664+58delnot provided [RCV001568994]likely benign157628557976285579Humanname
150413800CV1198682single nucleotide variantNM_000126.4(ETFA):c.664+27T>Anot provided [RCV001574735]likely benign157628561076285610Humanname
150482608CV1244303single nucleotide variantNM_000126.4(ETFA):c.40-244C>Tnot provided [RCV001653150]benign157629598176295981Humanname
150496948CV1283456duplicationNM_000126.4(ETFA):c.351+83dupnot provided [RCV001717771]benign157629234576292346Humanname
8690972CV140927single nucleotide variantNM_000126.4(ETFA):c.351+17T>CMultiple acyl-CoA dehydrogenase deficiency [RCV001519264]|not provided [RCV003398743]|not specified [RCV000124908]benign|likely benign157629241476292414Human1name
8690973CV140928single nucleotide variantNM_000126.4(ETFA):c.734-20C>AMultiple acyl-CoA dehydrogenase deficiency [RCV001518157]|not provided [RCV004714484]|not specified [RCV000124910]benign157627451476274514Human1name
152027714CV1520990single nucleotide variantNM_000126.4(ETFA):c.268+18A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002085223]likely benign157629260176292601Human1name
152056486CV1523046single nucleotide variantNM_000126.4(ETFA):c.817-16A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002167501]likely benign157623141476231414Human1name
152129453CV1549275single nucleotide variantNM_000126.4(ETFA):c.963+14G>CMultiple acyl-CoA dehydrogenase deficiency [RCV002099285]likely benign157622583576225835Human1name
152041061CV1553452duplicationNM_000126.4(ETFA):c.665-17dupMultiple acyl-CoA dehydrogenase deficiency [RCV002087970]benign157628384176283842Human1name
152154647CV1563651single nucleotide variantNM_000126.4(ETFA):c.451+19T>CMultiple acyl-CoA dehydrogenase deficiency [RCV002202496]likely benign157628782776287827Human1name
152128418CV1596546single nucleotide variantNM_000126.4(ETFA):c.351+10T>CMultiple acyl-CoA dehydrogenase deficiency [RCV002118755]likely benign157629242176292421Human1name
152110034CV1603325single nucleotide variantNM_000126.4(ETFA):c.734-10T>CMultiple acyl-CoA dehydrogenase deficiency [RCV002096724]likely benign157627450476274504Human1name
152061989CV1618643single nucleotide variantNM_000126.4(ETFA):c.269-15G>AMultiple acyl-CoA dehydrogenase deficiency [RCV002090358]likely benign157629252876292528Human1name
152171484CV1628316single nucleotide variantNM_000126.4(ETFA):c.883-14T>AMultiple acyl-CoA dehydrogenase deficiency [RCV002183514]likely benign157622594376225943Human1name
152157937CV1639478single nucleotide variantNM_000126.4(ETFA):c.734-11T>CMultiple acyl-CoA dehydrogenase deficiency [RCV002180406]likely benign157627450576274505Human1name
152058390CV1652007single nucleotide variantNM_000126.4(ETFA):c.562+16G>TMultiple acyl-CoA dehydrogenase deficiency [RCV002190237]likely benign157628635576286355Human1name
152053251CV1665184single nucleotide variantNM_000126.4(ETFA):c.733+16T>GMultiple acyl-CoA dehydrogenase deficiency [RCV002089419]likely benign157628374176283741Human1name
156318846CV1900212single nucleotide variantNM_000126.4(ETFA):c.665-17T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003088876]likely benign157628384276283842Human1name
156344959CV1907758single nucleotide variantNM_000126.4(ETFA):c.187-13C>AMultiple acyl-CoA dehydrogenase deficiency [RCV003090582]likely benign157629271376292713Human1name
156068322CV1927990single nucleotide variantNM_000126.4(ETFA):c.451+12A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002638517]likely benign157628783476287834Human1name
156120675CV1959332single nucleotide variantNM_000126.4(ETFA):c.883-18T>GMultiple acyl-CoA dehydrogenase deficiency [RCV002571849]likely benign157622594776225947Human1name
155966616CV2048466single nucleotide variantNM_000126.4(ETFA):c.816+13A>GMultiple acyl-CoA dehydrogenase deficiency [RCV002776522]likely benign157627439976274399Human1name
156038724CV2089525single nucleotide variantNM_000126.4(ETFA):c.451+11A>CMultiple acyl-CoA dehydrogenase deficiency [RCV002867352]likely benign157628783576287835Human1name
156012059CV2124663single nucleotide variantNM_000126.4(ETFA):c.882+15G>AMultiple acyl-CoA dehydrogenase deficiency [RCV002948324]likely benign157623131876231318Human1name
156123309CV2124763single nucleotide variantNM_000126.4(ETFA):c.733+18A>CMultiple acyl-CoA dehydrogenase deficiency [RCV002953583]likely benign157628373976283739Human1name
156025507CV2131246single nucleotide variantNM_000126.4(ETFA):c.268+11C>GMultiple acyl-CoA dehydrogenase deficiency [RCV002976366]likely benign157629260876292608Human1name
156136525CV2165706single nucleotide variantNM_000126.4(ETFA):c.562+10C>GMultiple acyl-CoA dehydrogenase deficiency [RCV003022372]likely benign157628636176286361Human1name
156101125CV2180066single nucleotide variantNM_000126.4(ETFA):c.665-13C>GMultiple acyl-CoA dehydrogenase deficiency [RCV003054731]likely benign157628383876283838Human1name
404986241CV2861082single nucleotide variantNM_000126.4(ETFA):c.963+17A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003512315]likely benign157622583276225832Human1name
404993697CV2878181single nucleotide variantNM_000126.4(ETFA):c.562+18G>TMultiple acyl-CoA dehydrogenase deficiency [RCV003513022]likely benign157628635376286353Human1name
404995464CV2884611single nucleotide variantNM_000126.4(ETFA):c.964-18T>GMultiple acyl-CoA dehydrogenase deficiency [RCV003513294]likely benign157621661576216615Human1name
404997791CV2893530single nucleotide variantNM_000126.4(ETFA):c.883-18T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003513510]likely benign157622594776225947Human1name
404981001CV2903194single nucleotide variantNM_000126.4(ETFA):c.268+14G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003511504]likely benign157629260576292605Human1name
405000084CV2905822duplicationNM_000126.4(ETFA):c.665-16dupMultiple acyl-CoA dehydrogenase deficiency [RCV003513751]likely benign157628384076283841Human1name
405000110CV2905902single nucleotide variantNM_000126.4(ETFA):c.963+14G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003513754]likely benign157622583576225835Human1name
404983280CV2914564single nucleotide variantNM_000126.4(ETFA):c.665-12T>AMultiple acyl-CoA dehydrogenase deficiency [RCV003511867]likely benign157628383776283837Human1name
404982757CV2920168single nucleotide variantNM_000126.4(ETFA):c.733+16T>AMultiple acyl-CoA dehydrogenase deficiency [RCV003511799]likely benign157628374176283741Human1name
404983075CV2920641single nucleotide variantNM_000126.4(ETFA):c.664+20T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003511841]likely benign157628561776285617Human1name
402473663CV2956275single nucleotide variantNM_000126.4(ETFA):c.268+12C>TMultiple acyl-CoA dehydrogenase deficiency [RCV003624838]likely benign157629260776292607Human1name
402473742CV2970255single nucleotide variantNM_000126.4(ETFA):c.734-17A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003624856]likely benign157627451176274511Human1name
402477086CV2980358single nucleotide variantNM_000126.4(ETFA):c.563-11A>TMultiple acyl-CoA dehydrogenase deficiency [RCV003625495]likely benign157628574976285749Human1name
402477237CV2998296single nucleotide variantNM_000126.4(ETFA):c.452-13T>AMultiple acyl-CoA dehydrogenase deficiency [RCV003625528]likely benign157628649476286494Human1name
402478750CV3015054single nucleotide variantNM_000126.4(ETFA):c.269-15G>TMultiple acyl-CoA dehydrogenase deficiency [RCV003625772]likely benign157629252876292528Human1name
402479826CV3017394single nucleotide variantNM_000126.4(ETFA):c.451+15A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003625929]likely benign157628783176287831Human1name
402470477CV3035335single nucleotide variantNM_000126.4(ETFA):c.351+20G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003623987]likely benign157629241176292411Human1name
402470449CV3040786single nucleotide variantNM_000126.4(ETFA):c.562+11A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003623979]likely benign157628636076286360Human1name
402471130CV3044786single nucleotide variantNM_000126.4(ETFA):c.268+15T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003624163]likely benign157629260476292604Human1name
402471290CV3048778single nucleotide variantNM_000126.4(ETFA):c.187-14T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003624208]likely benign157629271476292714Human1name
402471398CV3049640single nucleotide variantNM_000126.4(ETFA):c.665-18T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003624237]likely benign157628384376283843Human1name
402471353CV3052325single nucleotide variantNM_000126.4(ETFA):c.351+18G>AMultiple acyl-CoA dehydrogenase deficiency [RCV003624225]likely benign157629241376292413Human1name
402471368CV3052400single nucleotide variantNM_000126.4(ETFA):c.964-20C>TMultiple acyl-CoA dehydrogenase deficiency [RCV003624229]likely benign157621661776216617Human1name
402472082CV3068400single nucleotide variantNM_000126.4(ETFA):c.452-17T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003624355]likely benign157628649876286498Human1name
402473971CV3069862single nucleotide variantNM_000126.4(ETFA):c.665-15A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003624909]likely benign157628384076283840Human1name
405210485CV3117670single nucleotide variantNM_000126.4(ETFA):c.882+14A>TMultiple acyl-CoA dehydrogenase deficiency [RCV003823269]likely benign157623131976231319Human1name
405085821CV3121943single nucleotide variantNM_000126.4(ETFA):c.562+13T>GMultiple acyl-CoA dehydrogenase deficiency [RCV003810698]likely benign157628635876286358Human1name
405161697CV3125134single nucleotide variantNM_000126.4(ETFA):c.269-19A>GMultiple acyl-CoA dehydrogenase deficiency [RCV003818405]likely benign157629253276292532Human1name
405039351CV3140982single nucleotide variantNM_000126.4(ETFA):c.352-16C>GMultiple acyl-CoA dehydrogenase deficiency [RCV003831275]likely benign157628796176287961Human1name
405198514CV3147069single nucleotide variantNM_000126.4(ETFA):c.187-18C>TMultiple acyl-CoA dehydrogenase deficiency [RCV003844229]likely benign157629271876292718Human1name
405158887CV3159839single nucleotide variantNM_000126.4(ETFA):c.665-14T>CMultiple acyl-CoA dehydrogenase deficiency [RCV003856910]likely benign157628383976283839Human1name
405159361CV3159873single nucleotide variantNM_000126.4(ETFA):c.451+17G>TMultiple acyl-CoA dehydrogenase deficiency [RCV003856944]|not provided [RCV004703334]likely benign157628782976287829Human1name
405237964CV3166988single nucleotide variantNM_000126.4(ETFA):c.187-17T>GMultiple acyl-CoA dehydrogenase deficiency [RCV003854243]likely benign157629271776292717Human1name
402481426CV3170800single nucleotide variantNM_000126.4(ETFA):c.562+15G>CMultiple acyl-CoA dehydrogenase deficiency [RCV003876003]likely benign157628635676286356Human1name
404996481CV3172887single nucleotide variantNM_000126.4(ETFA):c.352-19C>TMultiple acyl-CoA dehydrogenase deficiency [RCV003882169]likely benign157628796476287964Human1name
402469606CV3174796single nucleotide variantNM_000126.4(ETFA):c.664+16A>CMultiple acyl-CoA dehydrogenase deficiency [RCV003873906]likely benign157628562176285621Human1name
11613890CV333075single nucleotide variantNM_000126.4(ETFA):c.562+11A>TMultiple acyl-CoA dehydrogenase deficiency [RCV000272341]|not specified [RCV000443607]benign|uncertain significance157628636076286360Human1name
12837233CV374337single nucleotide variantNM_000126.4(ETFA):c.451+14G>AMultiple acyl-CoA dehydrogenase deficiency [RCV002062404]|not specified [RCV000424816]benign|likely benign157628783276287832Human1name
12842913CV374340single nucleotide variantNM_000126.4(ETFA):c.186+16G>TMultiple acyl-CoA dehydrogenase deficiency [RCV001523630]|not specified [RCV000435269]benign157629557576295575Human1name
597867931CV3764176deletionNM_000126.4(ETFA):c.452-12delMultiple acyl-CoA dehydrogenase deficiency [RCV005107173]likely benign157628649376286493Human1name
597926805CV3772709single nucleotide variantNM_000126.4(ETFA):c.563-12T>CMultiple acyl-CoA dehydrogenase deficiency [RCV005115859]likely benign157628575076285750Human1name
597952353CV3795109single nucleotide variantNM_000126.4(ETFA):c.269-17A>CMultiple acyl-CoA dehydrogenase deficiency [RCV005136321]likely benign157629253076292530Human1name
597958798CV3797376single nucleotide variantNM_000126.4(ETFA):c.665-19T>CMultiple acyl-CoA dehydrogenase deficiency [RCV005138063]likely benign157628384476283844Human1name
597865271CV3823299single nucleotide variantNM_000126.4(ETFA):c.817-15C>TMultiple acyl-CoA dehydrogenase deficiency [RCV005175649]likely benign157623141376231413Human1name
13535161CV505193single nucleotide variantNM_000126.4(ETFA):c.817-12C>TMultiple acyl-CoA dehydrogenase deficiency [RCV002531509]|not provided [RCV001722659]likely benign157623141076231410Human1name
13529752CV505386deletionNM_000126.4(ETFA):c.452-11delMultiple acyl-CoA dehydrogenase deficiency [RCV002529565]|not specified [RCV000600425]likely benign157628649276286492Human1name
13538764CV505809single nucleotide variantNM_000126.4(ETFA):c.964-20C>GMultiple acyl-CoA dehydrogenase deficiency [RCV002063277]|not specified [RCV000612313]benign|likely benign157621661776216617Human1name
13537300CV505811deletionNM_000126.4(ETFA):c.882+20delnot specified [RCV000610220]likely benign157623131376231313Humanname
14739040CV667946single nucleotide variantNM_000126.4(ETFA):c.39+234G>Anot provided [RCV000839685]likely benign157631111676311116Humanname
14724584CV668377single nucleotide variantNM_000126.4(ETFA):c.882+54G>Tnot provided [RCV000833050]benign157623127976231279Humanname
14746177CV668387single nucleotide variantNM_000126.4(ETFA):c.40-269A>Gnot provided [RCV000844163]benign157629600676296006Humanname
15136352CV787905single nucleotide variantNM_000126.4(ETFA):c.733+10T>CMultiple acyl-CoA dehydrogenase deficiency [RCV000982097]likely benign157628374776283747Human1name
28877580CV876575single nucleotide variantNM_000126.4(ETFA):c.882+10C>TMultiple acyl-CoA dehydrogenase deficiency [RCV001116619]conflicting interpretations of pathogenicity|uncertain significance157623132376231323Human1name
28882225CV876576single nucleotide variantNM_000126.4(ETFA):c.351+12G>AMultiple acyl-CoA dehydrogenase deficiency [RCV001118068]conflicting interpretations of pathogenicity|uncertain significance157629241976292419Human1name
150331845CV1169650single nucleotide variantNM_000126.4(ETFA):c.817-301T>Cnot provided [RCV001536649]likely benign157623169976231699Humanname
150424585CV1185025single nucleotide variantNM_000126.4(ETFA):c.963+208A>Gnot provided [RCV001556859]likely benign157622564176225641Humanname
150425568CV1185026single nucleotide variantNM_000126.4(ETFA):c.883-269T>Anot provided [RCV001558171]likely benign157622619876226198Humanname
150428085CV1188278single nucleotide variantNM_000126.4(ETFA):c.734-107A>Gnot provided [RCV001561790]likely benign157627460176274601Humanname
150427391CV1188279single nucleotide variantNM_000126.4(ETFA):c.733+250T>Cnot provided [RCV001560862]likely benign157628350776283507Humanname
150416735CV1194989single nucleotide variantNM_000126.4(ETFA):c.963+260C>Tnot provided [RCV001568472]likely benign157622558976225589Humanname
150422313CV1194991single nucleotide variantNM_000126.4(ETFA):c.562+104A>Cnot provided [RCV001570983]likely benign157628626776286267Humanname
150417477CV1198681single nucleotide variantNM_000126.4(ETFA):c.733+113G>Anot provided [RCV001576314]likely benign157628364476283644Humanname
150459416CV1202921single nucleotide variantNM_000126.4(ETFA):c.562+100T>Cnot provided [RCV001586574]likely benign157628627176286271Humanname
150431438CV1206350single nucleotide variantNM_000126.4(ETFA):c.451+287T>Cnot provided [RCV001580999]likely benign157628755976287559Humanname
150487679CV1208142single nucleotide variantNM_000126.4(ETFA):c.452-212C>Tnot provided [RCV001592002]likely benign157628669376286693Humanname
150504212CV1240709single nucleotide variantNM_000126.4(ETFA):c.452-175G>Anot provided [RCV001657552]benign157628665676286656Humanname
151727607CV1241973deletionNM_000126.4(ETFA):c.*27_*30delMultiple acyl-CoA dehydrogenase deficiency [RCV001844341]pathogenic157621652976216532Human1name
150459144CV1269756duplicationNM_000126.4(ETFA):c.964-266dupnot provided [RCV001693296]benign157621684076216841Humanname
150446158CV1278272single nucleotide variantNM_000126.4(ETFA):c.963+296A>Gnot provided [RCV001707415]benign157622555376225553Humanname
14742689CV667090single nucleotide variantNM_000126.4(ETFA):c.816+227A>Gnot provided [RCV000841563]likely benign157627418576274185Humanname
14719154CV667091single nucleotide variantNM_000126.4(ETFA):c.452-268C>Tnot provided [RCV000830647]benign157628674976286749Human4name
14719154CV667091single nucleotide variantNM_000126.4(ETFA):c.452-268C>Tnot provided [RCV000830647]benign157628674976286750Human4name
14742775CV667092single nucleotide variantNM_000126.4(ETFA):c.352-241G>Anot provided [RCV000841619]benign157628818676288186Humanname
14721569CV667944single nucleotide variantNM_000126.4(ETFA):c.451+253A>Gnot provided [RCV000831729]likely benign157628759376287593Humanname
14746030CV668379single nucleotide variantNM_000126.4(ETFA):c.352-261G>Anot provided [RCV000844006]benign157628820676288206Humanname
14739354CV668384single nucleotide variantNM_000126.4(ETFA):c.186+155G>Anot provided [RCV000839838]benign157629543676295436Human1name
14739354CV668384single nucleotide variantNM_000126.4(ETFA):c.186+155G>Anot provided [RCV000839838]benign157629543676295437Human1name
127318980CV1157534single nucleotide variantNM_000126.4(ETFA):c.817-3173C>GMultiple acyl-CoA dehydrogenase deficiency [RCV001521894]benign157623457176234571Human1name
155989102CV2101909deletionNM_000126.4(ETFA):c.658_664+3delMultiple acyl-CoA dehydrogenase deficiency [RCV002908070]likely pathogenic157628563476285643Human1name
404987343CV2865629deletionNM_000126.4(ETFA):c.734-1_744delMultiple acyl-CoA dehydrogenase deficiency [RCV003512439]likely pathogenic157627448476274495Human1name
408393937CV3521638deletionNM_000126.4(ETFA):c.883-1_885delMultiple acyl-CoA dehydrogenase deficiency [RCV004764436]likely pathogenic157622592776225930Human1name
156046536CV2068099deletionNM_000126.4(ETFA):c.40-17_40-8delMultiple acyl-CoA dehydrogenase deficiency [RCV002846287]likely benign157629574576295754Human1name
150488987CV1208345deletionNM_000126.4(ETFA):c.40-51_40-50delnot provided [RCV001592205]likely benign157629578776295788Humanname
150503050CV1257700duplicationNM_000126.4(ETFA):c.40-66_40-65dupnot provided [RCV001677388]benign157629578676295787Humanname
11640615CV268471single nucleotide variantNM_000126.4(ETFA):c.6C>T (p.Phe2=)Glutaric acidemia type 2A [RCV001272689]|Multiple acyl-CoA dehydrogenase deficiency [RCV001079275]|not provided [RCV000725409]|not specified [RCV000341012]likely benign|conflicting interpretations of pathogenicity|uncertain significance157631138376311383Human2name
402470427CV3035066duplicationNM_000126.4(ETFA):c.40-20_40-19dupMultiple acyl-CoA dehydrogenase deficiency [RCV003623973]benign157629575576295756Human1name
405159621CV3124951duplicationNM_000126.4(ETFA):c.40-21_40-19dupMultiple acyl-CoA dehydrogenase deficiency [RCV003818222]likely benign157629575576295756Human1name
405242884CV3164655duplicationNM_000126.4(ETFA):c.40-21_40-18dupMultiple acyl-CoA dehydrogenase deficiency [RCV003867736]likely benign157629575476295755Human1name
127231107CV1081357single nucleotide variantNM_000126.4(ETFA):c.24G>A (p.Gly8=)Multiple acyl-CoA dehydrogenase deficiency [RCV001395128]likely benign157631136576311365Human1name
152167176CV1524580single nucleotide variantNM_000126.4(ETFA):c.21G>A (p.Pro7=)Multiple acyl-CoA dehydrogenase deficiency [RCV002142094]likely benign157631136876311368Human1name
152152854CV1529752single nucleotide variantNM_000126.4(ETFA):c.24G>C (p.Gly8=)Multiple acyl-CoA dehydrogenase deficiency [RCV002202245]likely benign157631136576311365Human1name
152079157CV1596732single nucleotide variantNM_000126.4(ETFA):c.15G>A (p.Ala5=)Multiple acyl-CoA dehydrogenase deficiency [RCV002092618]likely benign157631137476311374Human1name
13530826CV505812single nucleotide variantNM_000126.4(ETFA):c.21G>C (p.Pro7=)Multiple acyl-CoA dehydrogenase deficiency [RCV001505081]|not specified [RCV000606269]likely benign157631136876311368Human1name
150417338CV1198683deletionNM_000126.4(ETFA):c.562+31_562+34delnot provided [RCV001576254]likely benign157628633776286340Humanname
151808478CV1362771single nucleotide variantNM_000126.4(ETFA):c.8G>C (p.Arg3Pro)Multiple acyl-CoA dehydrogenase deficiency [RCV001991598]uncertain significance157631138176311381Human1name
152161078CV1530993single nucleotide variantNM_000126.4(ETFA):c.30C>G (p.Leu10=)Multiple acyl-CoA dehydrogenase deficiency [RCV002123203]likely benign157631135976311359Human1name
152151001CV1598205single nucleotide variantNM_000126.4(ETFA):c.54A>G (p.Arg18=)Multiple acyl-CoA dehydrogenase deficiency [RCV002121738]likely benign157629572376295723Human1name
152128930CV1637388deletionNM_000126.4(ETFA):c.451+14_451+17delMultiple acyl-CoA dehydrogenase deficiency [RCV002217797]likely benign157628782976287832Human1name
9692911CV177021single nucleotide variantNM_000126.4(ETFA):c.2T>C (p.Met1Thr)Multiple acyl-CoA dehydrogenase deficiency [RCV000324694]|not provided [RCV000153198]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance157631138776311387Human1name
156233412CV1885296single nucleotide variantNM_000126.4(ETFA):c.84T>C (p.His28=)Multiple acyl-CoA dehydrogenase deficiency [RCV003085459]likely benign157629569376295693Human1name
402479559CV3009945single nucleotide variantNM_000126.4(ETFA):c.33G>C (p.Arg11=)Multiple acyl-CoA dehydrogenase deficiency [RCV003625872]likely benign157631135676311356Human1name
402471662CV3057286microsatelliteNM_000126.4(ETFA):c.817-12_817-11delMultiple acyl-CoA dehydrogenase deficiency [RCV003624301]likely benign157623140976231410Humanname
402471981CV3069582single nucleotide variantNM_000126.4(ETFA):c.81G>A (p.Glu27=)Multiple acyl-CoA dehydrogenase deficiency [RCV003624400]likely benign157629569676295696Human1name
402474314CV3070760deletionNM_000126.4(ETFA):c.883-17_883-16delMultiple acyl-CoA dehydrogenase deficiency [RCV003624972]likely benign157622594576225946Human1name
405093375CV3134638single nucleotide variantNM_000126.4(ETFA):c.99A>G (p.Leu33=)Multiple acyl-CoA dehydrogenase deficiency [RCV003834984]likely benign157629567876295678Human1name
405038705CV3140931single nucleotide variantNM_000126.4(ETFA):c.51A>G (p.Leu17=)Multiple acyl-CoA dehydrogenase deficiency [RCV003831224]likely benign157629572676295726Human1name
402488305CV3181978single nucleotide variantNM_000126.4(ETFA):c.69G>A (p.Leu23=)Multiple acyl-CoA dehydrogenase deficiency [RCV003876647]likely benign157629570876295708Human1name
597632659CV3704334single nucleotide variantNM_000126.4(ETFA):c.1A>G (p.Met1Val)Multiple acyl-CoA dehydrogenase deficiency [RCV005003211]pathogenic157631138876311388Human1name
13491140CV465316single nucleotide variantNM_000126.4(ETFA):c.30C>T (p.Leu10=)Multiple acyl-CoA dehydrogenase deficiency [RCV000534010]likely benign157631135976311359Human1name
14710218CV667945deletionNM_000126.4(ETFA):c.40-269_40-266delnot provided [RCV000844005]benign157629600376296006Humanname
21068972CV788891single nucleotide variantNM_000126.4(ETFA):c.7C>T (p.Arg3Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV000985194]likely pathogenic157631138276311382Human1name
28882234CV874190single nucleotide variantNM_000126.4(ETFA):c.78T>C (p.Ala26=)Multiple acyl-CoA dehydrogenase deficiency [RCV001118070]conflicting interpretations of pathogenicity|uncertain significance157629569976295699Human1name
28882240CV874191single nucleotide variantNM_000126.4(ETFA):c.66C>T (p.Thr22=)ETFA-related disorder [RCV003898113]|Multiple acyl-CoA dehydrogenase deficiency [RCV001118071]likely benign|conflicting interpretations of pathogenicity|uncertain significance157629571176295711Human1name , trait , alternate_id
40905152CV979678single nucleotide variantNM_000126.4(ETFA):c.39G>A (p.Ala13=)Multiple acyl-CoA dehydrogenase deficiency [RCV001278287]uncertain significance157631135076311350Human1name
40905153CV979679single nucleotide variantNM_000126.4(ETFA):c.36G>A (p.Arg12=)Multiple acyl-CoA dehydrogenase deficiency [RCV001278288]likely benign|uncertain significance157631135376311353Human1name
127272785CV1081351single nucleotide variantNM_000126.4(ETFA):c.283T>C (p.Leu95=)Multiple acyl-CoA dehydrogenase deficiency [RCV001405803]likely benign157629249976292499Human1name
127266889CV1081352single nucleotide variantNM_000126.4(ETFA):c.264T>G (p.Leu88=)Multiple acyl-CoA dehydrogenase deficiency [RCV001403966]likely benign157629262376292623Human1name
127258894CV1081353single nucleotide variantNM_000126.4(ETFA):c.240G>A (p.Gln80=)Multiple acyl-CoA dehydrogenase deficiency [RCV001401778]likely benign157629264776292647Human1name
127274193CV1081354single nucleotide variantNM_000126.4(ETFA):c.201C>G (p.Leu67=)Multiple acyl-CoA dehydrogenase deficiency [RCV001406265]likely benign157629268676292686Human1name
127231118CV1081355single nucleotide variantNM_000126.4(ETFA):c.165A>G (p.Val55=)Multiple acyl-CoA dehydrogenase deficiency [RCV001395133]likely benign157629561276295612Human1name
127246959CV1103157single nucleotide variantNM_000126.4(ETFA):c.294A>C (p.Ala98=)Multiple acyl-CoA dehydrogenase deficiency [RCV001424599]likely benign157629248876292488Human1name
127288144CV1124595single nucleotide variantNM_000126.4(ETFA):c.189G>A (p.Val63=)Multiple acyl-CoA dehydrogenase deficiency [RCV001450380]likely benign157629269876292698Human1name
127307424CV1124597single nucleotide variantNM_000126.4(ETFA):c.156C>T (p.Ser52=)Multiple acyl-CoA dehydrogenase deficiency [RCV001455785]likely benign157629562176295621Human1name
127312671CV1145448single nucleotide variantNM_000126.4(ETFA):c.273A>G (p.Glu91=)Multiple acyl-CoA dehydrogenase deficiency [RCV001481733]likely benign157629250976292509Human1name
127290293CV1145450single nucleotide variantNM_000126.4(ETFA):c.228T>C (p.Val76=)Multiple acyl-CoA dehydrogenase deficiency [RCV001495933]likely benign157629265976292659Human1name
127325399CV1145451single nucleotide variantNM_000126.4(ETFA):c.222A>G (p.Ala74=)Multiple acyl-CoA dehydrogenase deficiency [RCV001506009]likely benign157629266576292665Human1name
127305665CV1145452single nucleotide variantNM_000126.4(ETFA):c.183C>T (p.Asp61=)Multiple acyl-CoA dehydrogenase deficiency [RCV001479813]likely benign157629559476295594Human1name
127314112CV1145453single nucleotide variantNM_000126.4(ETFA):c.153G>A (p.Val51=)Multiple acyl-CoA dehydrogenase deficiency [RCV001482146]likely benign157629562476295624Human1name
127335500CV1145454single nucleotide variantNM_000126.4(ETFA):c.141T>G (p.Leu47=)Multiple acyl-CoA dehydrogenase deficiency [RCV001491571]likely benign157629563676295636Human1name
151745114CV1473438single nucleotide variantNM_000126.4(ETFA):c.11C>T (p.Ala4Val)Multiple acyl-CoA dehydrogenase deficiency [RCV001912328]uncertain significance157631137876311378Human1name
152168528CV1558789single nucleotide variantNM_000126.4(ETFA):c.264T>A (p.Leu88=)Multiple acyl-CoA dehydrogenase deficiency [RCV002142479]likely benign157629262376292623Human1name
152106072CV1560021single nucleotide variantNM_000126.4(ETFA):c.297T>C (p.Thr99=)Multiple acyl-CoA dehydrogenase deficiency [RCV002133867]likely benign157629248576292485Human1name
152176578CV1631593single nucleotide variantNM_000126.4(ETFA):c.210A>G (p.Val70=)Multiple acyl-CoA dehydrogenase deficiency [RCV002164724]likely benign157629267776292677Human1name
153302394CV1688208single nucleotide variantNM_000126.4(ETFA):c.26A>G (p.Gln9Arg)Inborn genetic diseases [RCV004047441]|not provided [RCV002265434]uncertain significance157631136376311363Human1name
10056189CV200299single nucleotide variantNM_000126.4(ETFA):c.20C>T (p.Pro7Leu)Multiple acyl-CoA dehydrogenase deficiency [RCV000702647]|not provided [RCV002292481]likely benign|uncertain significance157631136976311369Human1name
155913600CV2065973single nucleotide variantNM_000126.4(ETFA):c.210A>T (p.Val70=)Multiple acyl-CoA dehydrogenase deficiency [RCV002837893]likely benign157629267776292677Human1name
156134490CV2085741single nucleotide variantNM_000126.4(ETFA):c.120C>T (p.Thr40=)Multiple acyl-CoA dehydrogenase deficiency [RCV002871756]likely benign157629565776295657Human1name
404993851CV2879295single nucleotide variantNM_000126.4(ETFA):c.288T>C (p.Ile96=)Multiple acyl-CoA dehydrogenase deficiency [RCV003513132]likely benign157629249476292494Human1name
404984157CV2910764single nucleotide variantNM_000126.4(ETFA):c.282A>G (p.Pro94=)Multiple acyl-CoA dehydrogenase deficiency [RCV003511971]likely benign157629250076292500Human1name
404981908CV2912510single nucleotide variantNM_000126.4(ETFA):c.213A>G (p.Ala71=)Multiple acyl-CoA dehydrogenase deficiency [RCV003511676]likely benign157629267476292674Human1name
404982460CV2915888single nucleotide variantNM_000126.4(ETFA):c.297T>G (p.Thr99=)Multiple acyl-CoA dehydrogenase deficiency [RCV003511759]likely benign157629248576292485Human1name
402472930CV2948454duplicationNM_000126.4(ETFA):c.37dup (p.Ala13fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003624646]pathogenic157631135176311352Human1name
402473749CV2970359single nucleotide variantNM_000126.4(ETFA):c.126T>G (p.Thr42=)Multiple acyl-CoA dehydrogenase deficiency [RCV003624858]likely benign157629565176295651Human1name
405165641CV3125612single nucleotide variantNM_000126.4(ETFA):c.261A>G (p.Leu87=)Multiple acyl-CoA dehydrogenase deficiency [RCV003818695]likely benign157629262676292626Human1name
597954140CV3786624single nucleotide variantNM_000126.4(ETFA):c.276G>A (p.Leu92=)Multiple acyl-CoA dehydrogenase deficiency [RCV005121715]likely benign157629250676292506Human1name
127280224CV1081345single nucleotide variantNM_000126.4(ETFA):c.837A>C (p.Gly279=)Multiple acyl-CoA dehydrogenase deficiency [RCV001409660]likely benign157623137876231378Human1name
127236735CV1081346single nucleotide variantNM_000126.4(ETFA):c.765C>A (p.Gly255=)Multiple acyl-CoA dehydrogenase deficiency [RCV001396954]likely benign157627446376274463Human1name
127253211CV1081347single nucleotide variantNM_000126.4(ETFA):c.723A>G (p.Leu241=)Multiple acyl-CoA dehydrogenase deficiency [RCV001400483]likely benign157628376776283767Human1name
127248653CV1081348single nucleotide variantNM_000126.4(ETFA):c.423T>C (p.Pro141=)Multiple acyl-CoA dehydrogenase deficiency [RCV001417189]likely benign157628787476287874Human1name
127256761CV1081349single nucleotide variantNM_000126.4(ETFA):c.393G>A (p.Pro131=)Multiple acyl-CoA dehydrogenase deficiency [RCV001419113]|not provided [RCV005428241]likely benign157628790476287904Human1name
127260801CV1103150single nucleotide variantNM_000126.4(ETFA):c.981T>G (p.Thr327=)Multiple acyl-CoA dehydrogenase deficiency [RCV001438689]likely benign157621658076216580Human1name
127241026CV1103153single nucleotide variantNM_000126.4(ETFA):c.591A>C (p.Ser197=)Multiple acyl-CoA dehydrogenase deficiency [RCV001434339]likely benign157628571076285710Human1name
127272086CV1103154single nucleotide variantNM_000126.4(ETFA):c.558A>G (p.Glu186=)Multiple acyl-CoA dehydrogenase deficiency [RCV001442037]likely benign157628637576286375Human1name
127242950CV1103156single nucleotide variantNM_000126.4(ETFA):c.345C>T (p.Phe115=)Multiple acyl-CoA dehydrogenase deficiency [RCV001434740]likely benign157629243776292437Human1name
127333839CV1124589single nucleotide variantNM_000126.4(ETFA):c.891G>C (p.Val297=)Multiple acyl-CoA dehydrogenase deficiency [RCV001473160]likely benign157622592176225921Human1name
127300385CV1124591single nucleotide variantNM_000126.4(ETFA):c.813A>C (p.Ala271=)Multiple acyl-CoA dehydrogenase deficiency [RCV001461088]likely benign157627441576274415Human1name
127303758CV1124592single nucleotide variantNM_000126.4(ETFA):c.564A>G (p.Ala188=)Multiple acyl-CoA dehydrogenase deficiency [RCV001462006]likely benign157628573776285737Human1name
127301267CV1124593single nucleotide variantNM_000126.4(ETFA):c.540C>G (p.Gly180=)Multiple acyl-CoA dehydrogenase deficiency [RCV001454088]|not provided [RCV001619907]likely benign157628639376286393Human1name
127297030CV1124594single nucleotide variantNM_000126.4(ETFA):c.358T>C (p.Leu120=)Multiple acyl-CoA dehydrogenase deficiency [RCV001477514]likely benign157628793976287939Human1name
127328771CV1145441single nucleotide variantNM_000126.4(ETFA):c.822T>C (p.Leu274=)Multiple acyl-CoA dehydrogenase deficiency [RCV001486957]likely benign157623139376231393Human1name
127286607CV1145442single nucleotide variantNM_000126.4(ETFA):c.667C>A (p.Arg223=)Multiple acyl-CoA dehydrogenase deficiency [RCV001494462]likely benign157628382376283823Human1name
127303338CV1145443single nucleotide variantNM_000126.4(ETFA):c.579A>G (p.Pro193=)Multiple acyl-CoA dehydrogenase deficiency [RCV001499373]likely benign157628572276285722Human1name
127323763CV1145445single nucleotide variantNM_000126.4(ETFA):c.540C>T (p.Gly180=)Multiple acyl-CoA dehydrogenase deficiency [RCV001485315]likely benign157628639376286393Human1name
127333547CV1145446single nucleotide variantNM_000126.4(ETFA):c.435G>A (p.Val145=)Multiple acyl-CoA dehydrogenase deficiency [RCV001490258]likely benign157628786276287862Human1name
127302027CV1145447single nucleotide variantNM_000126.4(ETFA):c.354C>T (p.Asn118=)Multiple acyl-CoA dehydrogenase deficiency [RCV001478848]likely benign157628794376287943Human1name
150459710CV1202961deletionNM_000126.4(ETFA):c.817-144_817-141delnot provided [RCV001586614]likely benign157623153976231542Humanname
150479058CV1207773duplicationNM_000126.4(ETFA):c.964-266_964-262dupnot provided [RCV001590049]likely benign157621684076216841Humanname
150508958CV1214177duplicationNM_000126.4(ETFA):c.964-266_964-263dupnot provided [RCV001596698]benign157621684076216841Humanname
150442625CV1233730duplicationNM_000126.4(ETFA):c.964-266_964-265dupnot provided [RCV001645418]benign157621684076216841Humanname
150502703CV1241626duplicationNM_000126.4(ETFA):c.964-266_964-264dupnot provided [RCV001657217]benign157621684076216841Humanname
150540495CV1314620duplicationNM_000126.4(ETFA):c.290dup (p.Leu97fs)Multiple acyl-CoA dehydrogenase deficiency [RCV001781053]likely pathogenic157629249176292492Humanname
151810766CV1350283single nucleotide variantNM_000126.4(ETFA):c.77C>T (p.Ala26Val)Multiple acyl-CoA dehydrogenase deficiency [RCV002048833]uncertain significance157629570076295700Human1name
151763288CV1384355deletionNM_000126.4(ETFA):c.285del (p.Ile96fs)Multiple acyl-CoA dehydrogenase deficiency [RCV001987524]pathogenic157629249776292497Human1name
151847816CV1433292single nucleotide variantNM_000126.4(ETFA):c.88A>G (p.Asn30Asp)Multiple acyl-CoA dehydrogenase deficiency [RCV001978524]uncertain significance157629568976295689Human1name
151781659CV1458348single nucleotide variantNM_000126.4(ETFA):c.44C>A (p.Ser15Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV001951135]pathogenic157629573376295733Human1name
151807993CV1462818single nucleotide variantNM_000126.4(ETFA):c.79G>A (p.Glu27Lys)Multiple acyl-CoA dehydrogenase deficiency [RCV001991552]uncertain significance157629569876295698Human1name
152118028CV1534844single nucleotide variantNM_000126.4(ETFA):c.468A>C (p.Thr156=)Multiple acyl-CoA dehydrogenase deficiency [RCV002153896]likely benign157628646576286465Human1name
152092681CV1545114single nucleotide variantNM_000126.4(ETFA):c.945A>C (p.Ile315=)Multiple acyl-CoA dehydrogenase deficiency [RCV002172035]likely benign157622586776225867Human1name
152120353CV1547373single nucleotide variantNM_000126.4(ETFA):c.456T>C (p.Asn152=)Multiple acyl-CoA dehydrogenase deficiency [RCV002081466]likely benign157628647776286477Human1name
152136502CV1555463single nucleotide variantNM_000126.4(ETFA):c.771T>G (p.Val257=)Multiple acyl-CoA dehydrogenase deficiency [RCV002119776]likely benign157627445776274457Human1name
152060403CV1559193single nucleotide variantNM_000126.4(ETFA):c.441T>A (p.Thr147=)Multiple acyl-CoA dehydrogenase deficiency [RCV002167932]likely benign157628785676287856Human1name
152119730CV1579197single nucleotide variantNM_000126.4(ETFA):c.942A>C (p.Gly314=)Multiple acyl-CoA dehydrogenase deficiency [RCV002081386]likely benign157622587076225870Human1name
152130067CV1584417single nucleotide variantNM_000126.4(ETFA):c.909A>G (p.Pro303=)Multiple acyl-CoA dehydrogenase deficiency [RCV002082743]likely benign157622590376225903Human1name
152161017CV1598832single nucleotide variantNM_000126.4(ETFA):c.462A>C (p.Leu154=)Multiple acyl-CoA dehydrogenase deficiency [RCV002140921]likely benign157628647176286471Human1name
152163645CV1600932single nucleotide variantNM_000126.4(ETFA):c.489G>C (p.Val163=)Multiple acyl-CoA dehydrogenase deficiency [RCV002141361]likely benign157628644476286444Human1name
152095009CV1603803single nucleotide variantNM_000126.4(ETFA):c.822T>A (p.Leu274=)Multiple acyl-CoA dehydrogenase deficiency [RCV002213239]likely benign157623139376231393Human1name
152037041CV1605498single nucleotide variantNM_000126.4(ETFA):c.324C>A (p.Ile108=)Multiple acyl-CoA dehydrogenase deficiency [RCV002087390]likely benign157629245876292458Human1name
152099880CV1610740single nucleotide variantNM_000126.4(ETFA):c.831T>C (p.Ala277=)Multiple acyl-CoA dehydrogenase deficiency [RCV002133135]likely benign157623138476231384Human1name
152041741CV1617934single nucleotide variantNM_000126.4(ETFA):c.951A>G (p.Ala317=)Multiple acyl-CoA dehydrogenase deficiency [RCV002206434]likely benign157622586176225861Human1name
152114008CV1624036single nucleotide variantNM_000126.4(ETFA):c.348A>G (p.Gly116=)Multiple acyl-CoA dehydrogenase deficiency [RCV002134858]likely benign157629243476292434Human1name
152048879CV1633589single nucleotide variantNM_000126.4(ETFA):c.654G>A (p.Val218=)Multiple acyl-CoA dehydrogenase deficiency [RCV002126984]likely benign157628564776285647Human1name
152041071CV1649310single nucleotide variantNM_000126.4(ETFA):c.678G>A (p.Lys226=)Multiple acyl-CoA dehydrogenase deficiency [RCV002206351]likely benign157628381276283812Human1name
152147578CV1656174single nucleotide variantNM_000126.4(ETFA):c.429A>C (p.Thr143=)Multiple acyl-CoA dehydrogenase deficiency [RCV002220288]likely benign157628786876287868Human1name
152126093CV1665878single nucleotide variantNM_000126.4(ETFA):c.972T>C (p.Pro324=)Multiple acyl-CoA dehydrogenase deficiency [RCV002198691]likely benign157621658976216589Human1name
156382434CV1870386single nucleotide variantNM_000126.4(ETFA):c.700T>C (p.Leu234=)Multiple acyl-CoA dehydrogenase deficiency [RCV003067280]likely benign157628379076283790Human1name
155957868CV1873461single nucleotide variantNM_000126.4(ETFA):c.786A>G (p.Gln262=)Multiple acyl-CoA dehydrogenase deficiency [RCV003074519]likely benign157627444276274442Human1name
156377790CV1876569single nucleotide variantNM_000126.4(ETFA):c.32G>A (p.Arg11Gln)Multiple acyl-CoA dehydrogenase deficiency [RCV003066888]uncertain significance157631135776311357Human1name
156090978CV1895533single nucleotide variantNM_000126.4(ETFA):c.955T>C (p.Leu319=)Multiple acyl-CoA dehydrogenase deficiency [RCV003080214]likely benign157622585776225857Human1name
156263970CV1910073single nucleotide variantNM_000126.4(ETFA):c.363C>T (p.Pro121=)Multiple acyl-CoA dehydrogenase deficiency [RCV002627861]likely benign157628793476287934Human1name
156416996CV1919198single nucleotide variantNM_000126.4(ETFA):c.53G>A (p.Arg18Gln)Multiple acyl-CoA dehydrogenase deficiency [RCV002610473]uncertain significance157629572476295724Human1name
156298899CV1919844single nucleotide variantNM_000126.4(ETFA):c.471G>A (p.Val157=)Multiple acyl-CoA dehydrogenase deficiency [RCV002599073]likely benign157628646276286462Human1name
156106612CV2008411single nucleotide variantNM_000126.4(ETFA):c.384G>A (p.Glu128=)Multiple acyl-CoA dehydrogenase deficiency [RCV002695503]likely benign157628791376287913Human1name
156324966CV2032392single nucleotide variantNM_000126.4(ETFA):c.819A>G (p.Glu273=)Multiple acyl-CoA dehydrogenase deficiency [RCV002717351]likely benign157623139676231396Human1name
156344837CV2051792single nucleotide variantNM_000126.4(ETFA):c.372A>C (p.Ala124=)Multiple acyl-CoA dehydrogenase deficiency [RCV002811402]likely benign157628792576287925Human1name
155934233CV2064299single nucleotide variantNM_000126.4(ETFA):c.369A>T (p.Val123=)Multiple acyl-CoA dehydrogenase deficiency [RCV002861320]likely benign157628792876287928Human1name
156352785CV2065969single nucleotide variantNM_000126.4(ETFA):c.939T>C (p.Tyr313=)Multiple acyl-CoA dehydrogenase deficiency [RCV002811908]likely benign157622587376225873Human1name
156321762CV2067625single nucleotide variantNM_000126.4(ETFA):c.780C>T (p.Asp260=)Multiple acyl-CoA dehydrogenase deficiency [RCV002834747]likely benign157627444876274448Human1name
155944421CV2072485single nucleotide variantNM_000126.4(ETFA):c.513A>G (p.Thr171=)Multiple acyl-CoA dehydrogenase deficiency [RCV002861981]likely benign157628642076286420Human1name
155913910CV2077817single nucleotide variantNM_000126.4(ETFA):c.429A>G (p.Thr143=)Multiple acyl-CoA dehydrogenase deficiency [RCV002858691]likely benign157628786876287868Human1name
156016141CV2087203single nucleotide variantNM_000126.4(ETFA):c.438A>G (p.Arg146=)Multiple acyl-CoA dehydrogenase deficiency [RCV002866366]likely benign157628785976287859Human1name
156368518CV2113298duplicationNM_000126.4(ETFA):c.284dup (p.Leu95fs)Multiple acyl-CoA dehydrogenase deficiency [RCV002942141]pathogenic|likely pathogenic157629249776292498Human1name
155935657CV2138808single nucleotide variantNM_000126.4(ETFA):c.960T>C (p.Phe320=)Multiple acyl-CoA dehydrogenase deficiency [RCV002993700]likely benign157622585276225852Human1name
155945352CV2154700single nucleotide variantNM_000126.4(ETFA):c.810A>G (p.Val270=)Multiple acyl-CoA dehydrogenase deficiency [RCV003014526]likely benign157627441876274418Human1name
156219122CV2172056single nucleotide variantNM_000126.4(ETFA):c.603C>T (p.Asp201=)Multiple acyl-CoA dehydrogenase deficiency [RCV003042646]likely benign157628569876285698Human1name
156332696CV2181777single nucleotide variantNM_000126.4(ETFA):c.495G>A (p.Val165=)Multiple acyl-CoA dehydrogenase deficiency [RCV003047311]likely benign157628643876286438Human1name
401949727CV2834347deletionNM_000126.4(ETFA):c.226del (p.Val76fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003475598]likely pathogenic157629266176292661Human1name
401949735CV2834355deletionNM_000126.4(ETFA):c.266del (p.Pro89fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003475606]likely pathogenic157629262176292621Human1name
404991609CV2859987single nucleotide variantNM_000126.4(ETFA):c.721C>T (p.Leu241=)Multiple acyl-CoA dehydrogenase deficiency [RCV003512875]likely benign157628376976283769Human1name
404991020CV2862479single nucleotide variantNM_000126.4(ETFA):c.390C>T (p.Ala130=)Multiple acyl-CoA dehydrogenase deficiency [RCV003512818]likely benign157628790776287907Human1name
404993055CV2867799single nucleotide variantNM_000126.4(ETFA):c.750T>C (p.Ala250=)Multiple acyl-CoA dehydrogenase deficiency [RCV003513063]likely benign157627447876274478Human1name
404994345CV2876639single nucleotide variantNM_000126.4(ETFA):c.660T>C (p.Ser220=)Multiple acyl-CoA dehydrogenase deficiency [RCV003513208]likely benign157628564176285641Human1name
404987958CV2911440single nucleotide variantNM_000126.4(ETFA):c.630A>G (p.Pro210=)Multiple acyl-CoA dehydrogenase deficiency [RCV003512503]likely benign157628567176285671Human1name
402472721CV2937794single nucleotide variantNM_000126.4(ETFA):c.696G>A (p.Lys232=)Multiple acyl-CoA dehydrogenase deficiency [RCV003624598]likely benign157628379476283794Human1name
402473281CV2957576single nucleotide variantNM_000126.4(ETFA):c.462A>G (p.Leu154=)Multiple acyl-CoA dehydrogenase deficiency [RCV003624728]likely benign157628647176286471Human1name
402475738CV2973534single nucleotide variantNM_000126.4(ETFA):c.657A>G (p.Val219=)Multiple acyl-CoA dehydrogenase deficiency [RCV003625242]likely benign157628564476285644Human1name
402477406CV2995224single nucleotide variantNM_000126.4(ETFA):c.426C>T (p.Asp142=)Multiple acyl-CoA dehydrogenase deficiency [RCV003625555]likely benign157628787176287871Human1name
402477338CV3001494single nucleotide variantNM_000126.4(ETFA):c.927A>G (p.Gln309=)Multiple acyl-CoA dehydrogenase deficiency [RCV003625545]likely benign157622588576225885Human1name
402478480CV3008099deletionNM_000126.4(ETFA):c.177del (p.Lys59fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003625735]pathogenic|likely pathogenic157629560076295600Human1name
402479892CV3010827single nucleotide variantNM_000126.4(ETFA):c.687G>A (p.Glu229=)Multiple acyl-CoA dehydrogenase deficiency [RCV003625938]likely benign157628380376283803Human1name
402470424CV3034822single nucleotide variantNM_000126.4(ETFA):c.864T>G (p.Ala288=)Multiple acyl-CoA dehydrogenase deficiency [RCV003623972]likely benign157623135176231351Human1name
402470754CV3042408single nucleotide variantNM_000126.4(ETFA):c.303G>A (p.Lys101=)Multiple acyl-CoA dehydrogenase deficiency [RCV003624060]likely benign157629247976292479Human1name
402474426CV3073993single nucleotide variantNM_000126.4(ETFA):c.594G>A (p.Glu198=)Multiple acyl-CoA dehydrogenase deficiency [RCV003624993]likely benign157628570776285707Human1name
402474997CV3077770single nucleotide variantNM_000126.4(ETFA):c.549C>T (p.Ala183=)Multiple acyl-CoA dehydrogenase deficiency [RCV003625100]likely benign157628638476286384Human1name
405168173CV3156891single nucleotide variantNM_000126.4(ETFA):c.867G>A (p.Gly289=)Multiple acyl-CoA dehydrogenase deficiency [RCV003857595]likely benign157623134876231348Human1name
407499153CV3438389single nucleotide variantNM_000126.4(ETFA):c.83A>G (p.His28Arg)Inborn genetic diseases [RCV004622709]uncertain significance157629569476295694Human1name
597921050CV3765211single nucleotide variantNM_000126.4(ETFA):c.336A>G (p.Ala112=)Multiple acyl-CoA dehydrogenase deficiency [RCV005115228]likely benign157629244676292446Human1name
597943103CV3816388single nucleotide variantNM_000126.4(ETFA):c.381T>G (p.Leu127=)Multiple acyl-CoA dehydrogenase deficiency [RCV005159449]likely benign157628791676287916Human1name
13446001CV437989single nucleotide variantNM_000126.4(ETFA):c.37G>A (p.Ala13Thr)not provided [RCV000513143]uncertain significance157631135276311352Humanname
14709766CV643551single nucleotide variantNM_000126.4(ETFA):c.81G>C (p.Glu27Asp)Multiple acyl-CoA dehydrogenase deficiency [RCV000809428]uncertain significance157629569676295696Human1name
14744557CV643552single nucleotide variantNM_000126.4(ETFA):c.63T>G (p.Ser21Arg)Multiple acyl-CoA dehydrogenase deficiency [RCV000824188]uncertain significance157629571476295714Human1name
14745342CV643553single nucleotide variantNM_000126.4(ETFA):c.52C>T (p.Arg18Ter)Inborn genetic diseases [RCV002538204]|Multiple acyl-CoA dehydrogenase deficiency [RCV000824641]|not provided [RCV001564261]pathogenic|likely pathogenic157629572576295725Human2name
15179080CV714618single nucleotide variantNM_000126.4(ETFA):c.702A>G (p.Leu234=)Glutaric acidemia type 2A [RCV001827061]|Multiple acyl-CoA dehydrogenase deficiency [RCV000973823]likely benign157628378876283788Human2name
15124534CV754689single nucleotide variantNM_000126.4(ETFA):c.988T>C (p.Leu330=)not provided [RCV000919001]likely benign157621657376216573Humanname
15171496CV770349single nucleotide variantNM_000126.4(ETFA):c.798G>A (p.Thr266=)Multiple acyl-CoA dehydrogenase deficiency [RCV001398033]likely benign157627443076274430Human1name
15121927CV785025single nucleotide variantNM_000126.4(ETFA):c.837A>G (p.Gly279=)Multiple acyl-CoA dehydrogenase deficiency [RCV000979557]likely benign157623137876231378Human1name
15143233CV785026single nucleotide variantNM_000126.4(ETFA):c.759T>C (p.Asp253=)Multiple acyl-CoA dehydrogenase deficiency [RCV001277757]likely benign|uncertain significance157627446976274469Human1name
15136878CV785027single nucleotide variantNM_000126.4(ETFA):c.720A>G (p.Gln240=)Multiple acyl-CoA dehydrogenase deficiency [RCV000982193]likely benign|conflicting interpretations of pathogenicity157628377076283770Human1name
15121461CV785028single nucleotide variantNM_000126.4(ETFA):c.342C>T (p.Ala114=)Multiple acyl-CoA dehydrogenase deficiency [RCV000979472]likely benign157629244076292440Human1name
28882223CV874189single nucleotide variantNM_000126.4(ETFA):c.366A>G (p.Arg122=)Multiple acyl-CoA dehydrogenase deficiency [RCV001118067]conflicting interpretations of pathogenicity|uncertain significance157628793176287931Human1name
40904714CV979674single nucleotide variantNM_000126.4(ETFA):c.321C>T (p.His107=)ETFA-related disorder [RCV003898256]|Multiple acyl-CoA dehydrogenase deficiency [RCV001277760]likely benign|uncertain significance157629246176292461Human1name , trait , alternate_id
126736452CV1011623single nucleotide variantNM_000126.4(ETFA):c.265C>T (p.Pro89Ser)Multiple acyl-CoA dehydrogenase deficiency [RCV001313856]uncertain significance157629262276292622Human1name
126746062CV1017982single nucleotide variantNM_000126.4(ETFA):c.173C>G (p.Thr58Ser)Multiple acyl-CoA dehydrogenase deficiency [RCV001330795]uncertain significance157629560476295604Human1name
127271844CV1063424deletionNM_000126.4(ETFA):c.478del (p.Asp160fs)Multiple acyl-CoA dehydrogenase deficiency [RCV001390288]pathogenic157628645576286455Human1name
151862608CV1338755single nucleotide variantNM_000126.4(ETFA):c.148G>A (p.Glu50Lys)Inborn genetic diseases [RCV003348679]|Multiple acyl-CoA dehydrogenase deficiency [RCV001997329]uncertain significance157629562976295629Human2name
151788526CV1387059single nucleotide variantNM_000126.4(ETFA):c.263T>C (p.Leu88Pro)Inborn genetic diseases [RCV005331022]|Multiple acyl-CoA dehydrogenase deficiency [RCV001931176]uncertain significance157629262476292624Human2name
151820444CV1416166duplicationNM_000126.4(ETFA):c.427dup (p.Thr143fs)Multiple acyl-CoA dehydrogenase deficiency [RCV001919517]pathogenic157628786976287870Human1name
151875165CV1476122single nucleotide variantNM_000126.4(ETFA):c.163G>A (p.Val55Ile)Multiple acyl-CoA dehydrogenase deficiency [RCV002019449]uncertain significance157629561476295614Human1name
156078755CV1886677single nucleotide variantNM_000126.4(ETFA):c.136C>T (p.Arg46Cys)Multiple acyl-CoA dehydrogenase deficiency [RCV003079793]uncertain significance157629564176295641Human1name
156059321CV1928977single nucleotide variantNM_000126.4(ETFA):c.245A>T (p.Asp82Val)Multiple acyl-CoA dehydrogenase deficiency [RCV002620893]uncertain significance157629264276292642Human1name
156312127CV1934497single nucleotide variantNM_000126.4(ETFA):c.295A>G (p.Thr99Ala)Multiple acyl-CoA dehydrogenase deficiency [RCV002629837]uncertain significance157629248776292487Human1name
10056190CV200297single nucleotide variantNM_000126.4(ETFA):c.215G>A (p.Gly72Asp)Inborn genetic diseases [RCV002516966]|Multiple acyl-CoA dehydrogenase deficiency [RCV001241625]|not provided [RCV000185866]uncertain significance157629267276292672Human2name
155907446CV2027708single nucleotide variantNM_000126.4(ETFA):c.178T>G (p.Cys60Gly)Multiple acyl-CoA dehydrogenase deficiency [RCV002726560]uncertain significance157629559976295599Human1name
155952935CV2073226duplicationNM_000126.4(ETFA):c.461dup (p.Cys155fs)Multiple acyl-CoA dehydrogenase deficiency [RCV002816367]pathogenic157628647176286472Human1name
156046280CV2093300duplicationNM_000126.4(ETFA):c.369dup (p.Ala124fs)Multiple acyl-CoA dehydrogenase deficiency [RCV002867627]pathogenic157628792776287928Human1name
156178428CV2166491single nucleotide variantNM_000126.4(ETFA):c.170G>T (p.Gly57Val)Multiple acyl-CoA dehydrogenase deficiency [RCV003023750]uncertain significance157629560776295607Human1name
156092770CV2167144single nucleotide variantNM_000126.4(ETFA):c.100G>A (p.Ala34Thr)Multiple acyl-CoA dehydrogenase deficiency [RCV003038278]uncertain significance157629567776295677Human1name
243062459CV2404903single nucleotide variantNM_000126.4(ETFA):c.242A>C (p.His81Pro)Multiple acyl-CoA dehydrogenase deficiency [RCV003140452]conflicting interpretations of pathogenicity|uncertain significance157629264576292645Human1name
401857613CV2750509single nucleotide variantNM_000126.4(ETFA):c.187G>T (p.Val63Leu)not provided [RCV003334182]uncertain significance157629270076292700Humanname
401949726CV2834346deletionNM_000126.4(ETFA):c.516del (p.Phe173fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003475597]likely pathogenic157628641776286417Human1name
401949728CV2834348single nucleotide variantNM_000126.4(ETFA):c.193C>T (p.Gln65Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV003475599]likely pathogenic157629269476292694Human1name
401949730CV2834350single nucleotide variantNM_000126.4(ETFA):c.238C>T (p.Gln80Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV003475601]likely pathogenic157629264976292649Human1name
401949731CV2834351duplicationNM_000126.4(ETFA):c.689dup (p.Asn230fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003475602]likely pathogenic157628380076283801Human1name
402476134CV2984803deletionNM_000126.4(ETFA):c.560del (p.Lys187fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003625317]pathogenic157628637376286373Human1name
597632642CV3704330duplicationNM_000126.4(ETFA):c.629dup (p.Glu211fs)Multiple acyl-CoA dehydrogenase deficiency [RCV005003207]likely pathogenic157628567176285672Human1name
597632655CV3704333deletionNM_000126.4(ETFA):c.422del (p.Pro141fs)Multiple acyl-CoA dehydrogenase deficiency [RCV005003210]likely pathogenic157628787576287875Human1name
597951043CV3765314deletionNM_000126.4(ETFA):c.499del (p.Ser167fs)Multiple acyl-CoA dehydrogenase deficiency [RCV005120958]pathogenic157628643476286434Human1name
597888640CV3804736single nucleotide variantNM_000126.4(ETFA):c.137G>A (p.Arg46His)Multiple acyl-CoA dehydrogenase deficiency [RCV005150998]uncertain significance157629564076295640Human1name
14706399CV643549deletionNM_000126.4(ETFA):c.624del (p.Arg209fs)Multiple acyl-CoA dehydrogenase deficiency [RCV000803822]pathogenic|likely pathogenic157628567776285677Human1name
26918649CV842711deletionNM_000126.4(ETFA):c.625del (p.Arg209fs)Multiple acyl-CoA dehydrogenase deficiency [RCV001058139]pathogenic|likely pathogenic157628567676285676Human1name
28893665CV860193duplicationNM_000126.4(ETFA):c.15_25dup (p.Gln9fs)Multiple acyl-CoA dehydrogenase deficiency [RCV001784643]|not provided [RCV001092618]pathogenic157631136376311364Human1name
40904715CV979675single nucleotide variantNM_000126.4(ETFA):c.218T>C (p.Ile73Thr)Multiple acyl-CoA dehydrogenase deficiency [RCV001277761]uncertain significance157629266976292669Human1name
40904716CV979676single nucleotide variantNM_000126.4(ETFA):c.197A>G (p.Asp66Gly)Multiple acyl-CoA dehydrogenase deficiency [RCV001277762]uncertain significance157629269076292690Human1name
40904717CV979677single nucleotide variantNM_000126.4(ETFA):c.170G>C (p.Gly57Ala)Multiple acyl-CoA dehydrogenase deficiency [RCV001277763]|not provided [RCV004774373]uncertain significance157629560776295607Human1name
126728922CV1032147single nucleotide variantNM_000126.4(ETFA):c.505C>T (p.Arg169Cys)Glutaric acidemia type 2A [RCV001831148]|Inborn genetic diseases [RCV002548462]|Multiple acyl-CoA dehydrogenase deficiency [RCV001349016]uncertain significance157628642876286428Human3name
126762050CV1032148single nucleotide variantNM_000126.4(ETFA):c.431T>C (p.Phe144Ser)Glutaric acidemia type 2A [RCV001830429]|Multiple acyl-CoA dehydrogenase deficiency [RCV001340865]|not provided [RCV001751667]|not specified [RCV004526113]uncertain significance157628786676287866Human2name
126923570CV1049103single nucleotide variantNM_000126.4(ETFA):c.919A>G (p.Ile307Val)Glutaric acidemia type 2A [RCV001826047]|Multiple acyl-CoA dehydrogenase deficiency [RCV001365995]uncertain significance157622589376225893Human2name
126923248CV1049104single nucleotide variantNM_000126.4(ETFA):c.706G>T (p.Asp236Tyr)Multiple acyl-CoA dehydrogenase deficiency [RCV001365627]uncertain significance157628378476283784Human1name
126923134CV1049105single nucleotide variantNM_000126.4(ETFA):c.560A>G (p.Lys187Arg)Glutaric acidemia type 2A [RCV001826042]|Multiple acyl-CoA dehydrogenase deficiency [RCV001365494]uncertain significance157628637376286373Human2name
127263818CV1063423single nucleotide variantNM_000126.4(ETFA):c.793C>T (p.Gln265Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV001381065]pathogenic157627443576274435Human1name
150546675CV1291593single nucleotide variantNM_000126.4(ETFA):c.494T>C (p.Val165Ala)Multiple acyl-CoA dehydrogenase deficiency [RCV004571073]|not specified [RCV001733357]likely pathogenic|uncertain significance157628643976286439Human1name
151780298CV1341739single nucleotide variantNM_000126.4(ETFA):c.461T>C (p.Leu154Pro)Multiple acyl-CoA dehydrogenase deficiency [RCV001897174]uncertain significance157628647276286472Human1name
151748004CV1353113single nucleotide variantNM_000126.4(ETFA):c.300G>T (p.Gln100His)Multiple acyl-CoA dehydrogenase deficiency [RCV001912666]uncertain significance157629248276292482Human1name
151792566CV1375978single nucleotide variantNM_000126.4(ETFA):c.973G>A (p.Glu325Lys)Multiple acyl-CoA dehydrogenase deficiency [RCV001973187]uncertain significance157621658876216588Human1name
151833541CV1388455single nucleotide variantNM_000126.4(ETFA):c.745C>T (p.Arg249Cys)Multiple acyl-CoA dehydrogenase deficiency [RCV001955917]uncertain significance157627448376274483Human1name
151857553CV1408112single nucleotide variantNM_000126.4(ETFA):c.932C>T (p.Ala311Val)Multiple acyl-CoA dehydrogenase deficiency [RCV001883510]uncertain significance157622588076225880Human1name
151725380CV1418184single nucleotide variantNM_000126.4(ETFA):c.946G>C (p.Val316Leu)Multiple acyl-CoA dehydrogenase deficiency [RCV001891651]uncertain significance157622586676225866Human1name
151825180CV1429491duplicationNM_000126.4(ETFA):c.693dup (p.Lys232Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV001993163]pathogenic|likely pathogenic157628379676283797Human1name
151827407CV1437792single nucleotide variantNM_000126.4(ETFA):c.467C>T (p.Thr156Ile)Inborn genetic diseases [RCV004975804]|Multiple acyl-CoA dehydrogenase deficiency [RCV001920158]uncertain significance157628646676286466Human2name
151767679CV1444316single nucleotide variantNM_000126.4(ETFA):c.592G>C (p.Glu198Gln)Multiple acyl-CoA dehydrogenase deficiency [RCV001949849]uncertain significance157628570976285709Human1name
151850163CV1452048single nucleotide variantNM_000126.4(ETFA):c.682G>A (p.Gly228Arg)Multiple acyl-CoA dehydrogenase deficiency [RCV002016468]uncertain significance157628380876283808Human1name
151832400CV1455893single nucleotide variantNM_000126.4(ETFA):c.557A>G (p.Glu186Gly)Inborn genetic diseases [RCV002545353]|Multiple acyl-CoA dehydrogenase deficiency [RCV002050850]|not provided [RCV003319480]uncertain significance157628637676286376Human2name
151881381CV1484205single nucleotide variantNM_000126.4(ETFA):c.625C>G (p.Arg209Gly)Multiple acyl-CoA dehydrogenase deficiency [RCV001941093]uncertain significance157628567676285676Human1name
151882284CV1484544single nucleotide variantNM_000126.4(ETFA):c.521A>C (p.Asp174Ala)Multiple acyl-CoA dehydrogenase deficiency [RCV001941259]uncertain significance157628641276286412Human1name
155645152CV1710632single nucleotide variantNM_000126.4(ETFA):c.776A>G (p.Asn259Ser)not provided [RCV002293928]uncertain significance157627445276274452Humanname
8595829CV17632single nucleotide variantNM_000126.4(ETFA):c.470T>G (p.Val157Gly)Glutaric acidemia IIa [RCV000002711]|Multiple acyl-CoA dehydrogenase deficiency [RCV002281690]pathogenic|likely pathogenic157628646376286463Human1name , alternate_id
8595830CV17633single nucleotide variantNM_000126.4(ETFA):c.797C>T (p.Thr266Met)ETFA-related disorder [RCV003904798]|Glutaric acidemia IIa [RCV000002712]|Multiple acyl-CoA dehydrogenase deficiency [RCV000332032]|not provided [RCV000185868]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity157627443176274431Human1name , trait , alternate_id
8595831CV17634single nucleotide variantNM_000126.4(ETFA):c.346G>A (p.Gly116Arg)Glutaric acidemia IIa [RCV000002713]|Multiple acyl-CoA dehydrogenase deficiency [RCV003472959]pathogenic|likely pathogenic157629243676292436Human1name , alternate_id
155749164CV1771020single nucleotide variantNM_000126.4(ETFA):c.405C>G (p.Ile135Met)Multiple acyl-CoA dehydrogenase deficiency [RCV002304361]uncertain significance157628789276287892Human1name
155803165CV1857972single nucleotide variantNM_000126.4(ETFA):c.322A>G (p.Ile108Val)not provided [RCV002461822]uncertain significance157629246076292460Humanname
156185489CV1885732single nucleotide variantNM_000126.4(ETFA):c.668G>A (p.Arg223Gln)Multiple acyl-CoA dehydrogenase deficiency [RCV003083699]|not provided [RCV003235767]uncertain significance157628382276283822Human1name
156073862CV1889937single nucleotide variantNM_000126.4(ETFA):c.934G>A (p.Asp312Asn)Inborn genetic diseases [RCV004071845]|Multiple acyl-CoA dehydrogenase deficiency [RCV003079632]uncertain significance157622587876225878Human2name
156335938CV1906021single nucleotide variantNM_000126.4(ETFA):c.866G>C (p.Gly289Ala)Multiple acyl-CoA dehydrogenase deficiency [RCV003090067]uncertain significance157623134976231349Human1name
156104902CV1917149single nucleotide variantNM_000126.4(ETFA):c.631G>A (p.Glu211Lys)Multiple acyl-CoA dehydrogenase deficiency [RCV002592413]uncertain significance157628567076285670Human1name
156449407CV1941340single nucleotide variantNM_000126.4(ETFA):c.811G>A (p.Ala271Thr)Multiple acyl-CoA dehydrogenase deficiency [RCV003121529]uncertain significance157627441776274417Human1name
156446240CV1951278single nucleotide variantNM_000126.4(ETFA):c.838A>C (p.Ile280Leu)Multiple acyl-CoA dehydrogenase deficiency [RCV003117210]uncertain significance157623137776231377Human1name
10056192CV200293single nucleotide variantNM_000126.4(ETFA):c.826A>C (p.Ile276Leu)ETFA-related disorder [RCV003977491]|Multiple acyl-CoA dehydrogenase deficiency [RCV000527908]|not provided [RCV000185869]likely benign|conflicting interpretations of pathogenicity|uncertain significance157623138976231389Human1name , trait , alternate_id
10056188CV200294single nucleotide variantNM_000126.4(ETFA):c.580G>A (p.Val194Met)not specified [RCV000185864]likely benign157628572176285721Humanname
10056187CV200295single nucleotide variantNM_000126.4(ETFA):c.533C>G (p.Thr178Arg)ETFA-related disorder [RCV003917703]|Multiple acyl-CoA dehydrogenase deficiency [RCV000320514]|not provided [RCV000726964]likely benign|conflicting interpretations of pathogenicity|uncertain significance157628640076286400Human1name , trait , alternate_id
10056191CV200296single nucleotide variantNM_000126.3(ETFA):c.360G>T (p.Leu120Phe)not specified [RCV000185867]uncertain significance157628793776287937Humanname
156374693CV2003915single nucleotide variantNM_000126.4(ETFA):c.334G>A (p.Ala112Thr)Multiple acyl-CoA dehydrogenase deficiency [RCV002653197]uncertain significance157629244876292448Human1name
156312287CV2007029single nucleotide variantNM_000126.4(ETFA):c.994A>G (p.Lys332Glu)Multiple acyl-CoA dehydrogenase deficiency [RCV002671703]uncertain significance157621656776216567Human1name
156305163CV2013682single nucleotide variantNM_000126.4(ETFA):c.683G>A (p.Gly228Glu)Multiple acyl-CoA dehydrogenase deficiency [RCV002716243]uncertain significance157628380776283807Human1name
156305631CV2013712single nucleotide variantNM_000126.4(ETFA):c.521A>G (p.Asp174Gly)Inborn genetic diseases [RCV002716264]|Multiple acyl-CoA dehydrogenase deficiency [RCV002716263]uncertain significance157628641276286412Human2name
156118781CV2035750single nucleotide variantNM_000126.4(ETFA):c.917C>T (p.Pro306Leu)Multiple acyl-CoA dehydrogenase deficiency [RCV002785705]uncertain significance157622589576225895Human1name
156138663CV2040650single nucleotide variantNM_000126.4(ETFA):c.775A>G (p.Asn259Asp)Multiple acyl-CoA dehydrogenase deficiency [RCV002786443]uncertain significance157627445376274453Human1name
156004459CV2045823single nucleotide variantNM_000126.4(ETFA):c.805A>T (p.Ile269Leu)Multiple acyl-CoA dehydrogenase deficiency [RCV002794781]uncertain significance157627442376274423Human1name
156005433CV2046014single nucleotide variantNM_000126.4(ETFA):c.334G>T (p.Ala112Ser)Multiple acyl-CoA dehydrogenase deficiency [RCV002794825]uncertain significance157629244876292448Human1name
156079982CV2049963single nucleotide variantNM_000126.4(ETFA):c.345C>A (p.Phe115Leu)Multiple acyl-CoA dehydrogenase deficiency [RCV002823822]uncertain significance157629243776292437Human1name
156239940CV2053047single nucleotide variantNM_000126.4(ETFA):c.323T>C (p.Ile108Thr)Multiple acyl-CoA dehydrogenase deficiency [RCV002791315]uncertain significance157629245976292459Human1name
155915056CV2063097single nucleotide variantNM_000126.4(ETFA):c.974A>G (p.Glu325Gly)Multiple acyl-CoA dehydrogenase deficiency [RCV002838000]uncertain significance157621658776216587Human1name
156352898CV2065984single nucleotide variantNM_000126.4(ETFA):c.481G>A (p.Glu161Lys)Multiple acyl-CoA dehydrogenase deficiency [RCV002811916]uncertain significance157628645276286452Human1name
155958200CV2087135single nucleotide variantNM_000126.4(ETFA):c.556G>T (p.Glu186Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV002862723]pathogenic157628637776286377Human1name
156275191CV2133027single nucleotide variantNM_000126.4(ETFA):c.980C>A (p.Thr327Asn)Multiple acyl-CoA dehydrogenase deficiency [RCV003009403]uncertain significance157621658176216581Human1name
156326973CV2170435single nucleotide variantNM_000126.4(ETFA):c.388G>A (p.Ala130Thr)Multiple acyl-CoA dehydrogenase deficiency [RCV003029545]uncertain significance157628790976287909Human1name
155980751CV2272761single nucleotide variantNM_000126.4(ETFA):c.914C>T (p.Ala305Val)Inborn genetic diseases [RCV002818555]uncertain significance157622589876225898Human1name
11350962CV237327single nucleotide variantNM_000126.4(ETFA):c.442A>G (p.Ile148Val)Glutaric acidemia type 2A [RCV001272688]|Multiple acyl-CoA dehydrogenase deficiency [RCV001081384]|not provided [RCV000224700]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance157628785576287855Human2name
329848729CV2523477single nucleotide variantNM_000126.4(ETFA):c.483G>C (p.Glu161Asp)not provided [RCV003225491]uncertain significance157628645076286450Humanname
11559763CV260080single nucleotide variantNM_000126.4(ETFA):c.625C>T (p.Arg209Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV001228210]|not provided [RCV000254926]pathogenic|likely pathogenic157628567676285676Human1name
401796136CV2739504single nucleotide variantNM_000126.4(ETFA):c.731C>T (p.Ala244Val)Multiple acyl-CoA dehydrogenase deficiency [RCV003319149]uncertain significance157628375976283759Human1name
401868061CV2749200single nucleotide variantNM_000126.4(ETFA):c.733G>A (p.Val245Ile)not specified [RCV003332027]uncertain significance157628375776283757Humanname
401949729CV2834349single nucleotide variantNM_000126.4(ETFA):c.365G>A (p.Arg122Lys)Multiple acyl-CoA dehydrogenase deficiency [RCV003475600]likely pathogenic157628793276287932Human1name
402471326CV3046062single nucleotide variantNM_000126.4(ETFA):c.597G>A (p.Trp199Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV003624218]pathogenic157628570476285704Human1name
405758787CV3256035single nucleotide variantNM_000126.4(ETFA):c.665G>T (p.Gly222Val)Inborn genetic diseases [RCV004383100]uncertain significance157628382576283825Human1name
11645575CV333078single nucleotide variantNM_000126.4(ETFA):c.367G>A (p.Val123Ile)Multiple acyl-CoA dehydrogenase deficiency [RCV000266331]uncertain significance157628793076287930Human1name
405868406CV3400395single nucleotide variantNM_000126.4(ETFA):c.465T>A (p.Cys155Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV004576398]likely pathogenic157628646876286468Human1name
11655425CV341322single nucleotide variantNM_000126.4(ETFA):c.746G>A (p.Arg249His)Glutaric acidemia type 2A [RCV001835781]|Inborn genetic diseases [RCV002520975]|Multiple acyl-CoA dehydrogenase deficiency [RCV000325820]uncertain significance157627448276274482Human3name
407475340CV3494672single nucleotide variantNM_000126.4(ETFA):c.347G>A (p.Gly116Glu)not specified [RCV004690571]uncertain significance157629243576292435Humanname
408366544CV3511145single nucleotide variantNM_000126.4(ETFA):c.703T>C (p.Tyr235His)ETFA-related disorder [RCV004756763]uncertain significance157628378776283787Humanname , trait , alternate_id
597677919CV3665190single nucleotide variantNM_000126.4(ETFA):c.415A>G (p.Lys139Glu)Inborn genetic diseases [RCV004982258]uncertain significance157628788276287882Human1name
597677928CV3665191single nucleotide variantNM_000126.4(ETFA):c.718C>A (p.Gln240Lys)Inborn genetic diseases [RCV004982259]uncertain significance157628377276283772Human1name
597677938CV3665192single nucleotide variantNM_000126.4(ETFA):c.715G>A (p.Asp239Asn)Inborn genetic diseases [RCV004982260]uncertain significance157628377576283775Human1name
12841587CV374747single nucleotide variantNM_000126.4(ETFA):c.985A>C (p.Ile329Leu)not specified [RCV000432839]likely benign157621657676216576Humanname
597831581CV3750905single nucleotide variantNM_000126.4(ETFA):c.869T>G (p.Met290Arg)Multiple acyl-CoA dehydrogenase deficiency [RCV005084649]uncertain significance157623134676231346Human1name
597854739CV3762544single nucleotide variantNM_000126.4(ETFA):c.781A>G (p.Met261Val)not specified [RCV005088462]uncertain significance157627444776274447Humanname
597929990CV3862184single nucleotide variantNM_000126.4(ETFA):c.626G>A (p.Arg209Gln)Multiple acyl-CoA dehydrogenase deficiency [RCV005206425]uncertain significance157628567576285675Human1name
598193551CV3958357single nucleotide variantNM_000126.4(ETFA):c.758A>T (p.Asp253Val)Inborn genetic diseases [RCV005335207]uncertain significance157627447076274470Human1name
12913538CV422046single nucleotide variantNM_000126.4(ETFA):c.667C>T (p.Arg223Ter)Glutaric acidemia type 2A [RCV001829411]|Multiple acyl-CoA dehydrogenase deficiency [RCV000779174]|not provided [RCV000493941]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance157628382376283823Human2name
13478406CV445429single nucleotide variantNM_000126.4(ETFA):c.931G>T (p.Ala311Ser)Glutaric acidemia type 2A [RCV001829514]|Multiple acyl-CoA dehydrogenase deficiency [RCV002525215]|not specified [RCV000520657]uncertain significance157622588176225881Human2name
13804559CV569153single nucleotide variantNM_000126.4(ETFA):c.871A>C (p.Lys291Gln)Multiple acyl-CoA dehydrogenase deficiency [RCV000699658]uncertain significance157623134476231344Human1name
13818305CV569599single nucleotide variantNM_000126.4(ETFA):c.946G>T (p.Val316Phe)Multiple acyl-CoA dehydrogenase deficiency [RCV000707619]uncertain significance157622586676225866Human1name
13821977CV569601single nucleotide variantNM_000126.4(ETFA):c.323T>A (p.Ile108Asn)Glutaric acidemia type 2A [RCV001825367]|Multiple acyl-CoA dehydrogenase deficiency [RCV000696645]uncertain significance157629245976292459Human2name
14716588CV643550single nucleotide variantNM_000126.4(ETFA):c.509G>A (p.Gly170Glu)Multiple acyl-CoA dehydrogenase deficiency [RCV000795167]uncertain significance157628642476286424Human1name
26912783CV842710single nucleotide variantNM_000126.4(ETFA):c.967G>A (p.Val323Ile)Multiple acyl-CoA dehydrogenase deficiency [RCV001053833]uncertain significance157621659476216594Human1name
28877583CV874188single nucleotide variantNM_000126.4(ETFA):c.728C>G (p.Ala243Gly)Multiple acyl-CoA dehydrogenase deficiency [RCV001116620]uncertain significance157628376276283762Human1name
38462035CV919598single nucleotide variantNM_000126.4(ETFA):c.379C>T (p.Leu127Phe)Multiple acyl-CoA dehydrogenase deficiency [RCV001198108]uncertain significance157628791876287918Human1name
38481411CV927426single nucleotide variantNM_000126.4(ETFA):c.457G>C (p.Ala153Pro)Glutaric acidemia type 2A [RCV001828734]|Multiple acyl-CoA dehydrogenase deficiency [RCV001217994]uncertain significance157628647676286476Human2name
38496779CV957513single nucleotide variantNM_000126.4(ETFA):c.506G>A (p.Arg169His)Glutaric acidemia type 2A [RCV001829002]|Multiple acyl-CoA dehydrogenase deficiency [RCV001242777]uncertain significance157628642776286427Human2name
40904711CV979671single nucleotide variantNM_000126.4(ETFA):c.876C>A (p.Asp292Glu)Multiple acyl-CoA dehydrogenase deficiency [RCV001277756]uncertain significance157623133976231339Human1name
40904712CV979672single nucleotide variantNM_000126.4(ETFA):c.541G>A (p.Gly181Ser)Multiple acyl-CoA dehydrogenase deficiency [RCV001277758]uncertain significance157628639276286392Human1name
8639369CV98352single nucleotide variantNM_000126.4(ETFA):c.512C>T (p.Thr171Ile)Multiple acyl-CoA dehydrogenase deficiency [RCV000377415]|not provided [RCV000676979]|not specified [RCV000078134]benign|likely benign157628642176286421Human5name
8639369CV98352single nucleotide variantNM_000126.4(ETFA):c.512C>T (p.Thr171Ile)Multiple acyl-CoA dehydrogenase deficiency [RCV000377415]|not provided [RCV000676979]|not specified [RCV000078134]benign|likely benign157628642176286422Human5name
126762858CV996402single nucleotide variantNM_000126.4(ETFA):c.392C>T (p.Pro131Leu)Multiple acyl-CoA dehydrogenase deficiency [RCV001300516]uncertain significance157628790576287905Human1name
150445416CV1233175insertionNM_000126.4(ETFA):c.883-77_883-76insGTAAGnot provided [RCV001645848]benign157622600576226006Humanname
150484590CV1263212insertionNM_000126.4(ETFA):c.883-76_883-75insGGTAAnot provided [RCV001686612]benign157622600476226005Humanname
151752737CV1457480single nucleotide variantNM_000126.4(ETFA):c.1001G>T (p.Ter334Leu)Multiple acyl-CoA dehydrogenase deficiency [RCV001913150]uncertain significance157621656076216560Human1name
150420217CV1198680microsatelliteNM_000126.4(ETFA):c.806TAG[1] (p.Val270del)Glutaric acidemia IIa [RCV002267117]|Multiple acyl-CoA dehydrogenase deficiency [RCV001780410]|not provided [RCV001577514]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance157627441776274419Humanname , alternate_id
150540496CV1314621microsatelliteNM_000126.4(ETFA):c.319_322del (p.His107fs)Multiple acyl-CoA dehydrogenase deficiency [RCV001781054]pathogenic|likely pathogenic157629246076292463Humanname
151869142CV1445002microsatelliteNM_000126.4(ETFA):c.321_322del (p.Ile108fs)Multiple acyl-CoA dehydrogenase deficiency [RCV001939556]pathogenic|likely pathogenic157629246076292461Humanname
155912488CV1980283duplicationNM_000126.4(ETFA):c.826_833dup (p.Gly279fs)Multiple acyl-CoA dehydrogenase deficiency [RCV002614093]pathogenic|likely pathogenic157623138176231382Human1name
401941943CV2834345deletionNM_000126.4(ETFA):c.298_325del (p.Gln100fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003467944]pathogenic|likely pathogenic157629245776292484Human1name
401949734CV2834354duplicationNM_000126.4(ETFA):c.650_653dup (p.Val219fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003475605]likely pathogenic157628564776285648Human1name
401949947CV2834360duplicationNM_000126.4(ETFA):c.371_372dup (p.Ala125fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003476349]likely pathogenic157628792476287925Human1name
404989260CV2926332microsatelliteNM_000126.4(ETFA):c.593_594del (p.Glu198fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003512635]pathogenic157628570776285708Humanname
402481103CV3023275deletionNM_000126.4(ETFA):c.311_312del (p.Asn104fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003626063]pathogenic157629247076292471Human1name
402472139CV3064613deletionNM_000126.4(ETFA):c.322_323del (p.Ile108fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003624340]pathogenic157629245976292460Human1name
597632651CV3704332deletionNM_000126.4(ETFA):c.510_511del (p.Thr171fs)Multiple acyl-CoA dehydrogenase deficiency [RCV005003209]likely pathogenic157628642276286423Human1name
597880305CV3860883deletionNM_000126.4(ETFA):c.373_376del (p.Ala125fs)Multiple acyl-CoA dehydrogenase deficiency [RCV005198891]pathogenic157628792176287924Human1name
13491539CV465428microsatelliteNM_000126.4(ETFA):c.495_496del (p.Ser167fs)ETFA-related disorder [RCV003403271]|Multiple acyl-CoA dehydrogenase deficiency [RCV000534299]pathogenic|likely pathogenic157628643776286438Humanname , trait , alternate_id
34891629CV906264deletionNM_000126.4(ETFA):c.884_886del (p.Thr295del)Multiple acyl-CoA dehydrogenase deficiency [RCV001175202]likely pathogenic157622592676225928Human1name
156357764CV2187240deletionNM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)Multiple acyl-CoA dehydrogenase deficiency [RCV003048809]uncertain significance157631137376311399Human1name
155945270CV1999366deletionNM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)Multiple acyl-CoA dehydrogenase deficiency [RCV002685707]uncertain significance157629563776295708Human1name
401949732CV2834352indelNM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs)Multiple acyl-CoA dehydrogenase deficiency [RCV003475603]likely pathogenic157628791876287922Humanname
155266196CV1698836deletionNM_000126.4(ETFA):c.632_640del (p.Glu211_Thr213del)Multiple acyl-CoA dehydrogenase deficiency [RCV002281668]likely pathogenic157628566176285669Human1name
401949948CV2834361deletionNM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)Multiple acyl-CoA dehydrogenase deficiency [RCV003476350]pathogenic|likely pathogenic157629268376292684Human1name