| 8556906 | CV17635 | deletion | ETFA, 3-BP DEL, NT808 | Glutaric acidemia IIa [RCV000002714] | pathogenic | | | | Human | | name , alternate_id |
| 405259702 | CV3195135 | single nucleotide variant | NM_000126.4(ETFA):c.-8C>T | ETFA-related disorder [RCV003894332] | likely benign | 15 | 76311396 | 76311396 | Human | | name , trait , alternate_id |
| 11614772 | CV339909 | single nucleotide variant | NM_000126.4(ETFA):c.-7G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV000279388] | uncertain significance | 15 | 76311395 | 76311395 | Human | 1 | name |
| 40905154 | CV979680 | single nucleotide variant | NM_000126.4(ETFA):c.-9G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001278289] | uncertain significance | 15 | 76311397 | 76311397 | Human | 1 | name |
| 11647657 | CV323399 | single nucleotide variant | NM_000126.4(ETFA):c.*55C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV000277782] | uncertain significance | 15 | 76216504 | 76216504 | Human | 1 | name |
| 11623199 | CV333074 | single nucleotide variant | NM_000126.4(ETFA):c.*99G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV000370060] | uncertain significance | 15 | 76216460 | 76216460 | Human | 1 | name |
| 11620457 | CV333079 | single nucleotide variant | NM_000126.4(ETFA):c.-56C>A | Multiple acyl-CoA dehydrogenase deficiency [RCV000337033] | uncertain significance | 15 | 76311444 | 76311444 | Human | 1 | name |
| 11623612 | CV339913 | single nucleotide variant | NM_000126.4(ETFA):c.-59C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV000375267] | uncertain significance | 15 | 76311447 | 76311447 | Human | 1 | name |
| 11616199 | CV341328 | single nucleotide variant | NM_000126.4(ETFA):c.-71T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV000292449]|not provided [RCV001549300] | likely benign|uncertain significance | 15 | 76311459 | 76311459 | Human | 1 | name |
| 12841320 | CV373685 | single nucleotide variant | NM_000126.4(ETFA):c.-42C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001119611]|not specified [RCV000432359] | likely benign|uncertain significance | 15 | 76311430 | 76311430 | Human | 1 | name |
| 12847657 | CV374754 | single nucleotide variant | NM_000126.4(ETFA):c.-24G>T | not provided [RCV001721309] | likely benign | 15 | 76311412 | 76311412 | Human | | name |
| 12842300 | CV376664 | single nucleotide variant | NM_000126.4(ETFA):c.-40G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001330796]|not provided [RCV001703800] | likely benign|uncertain significance | 15 | 76311428 | 76311428 | Human | 1 | name |
| 13540359 | CV505195 | single nucleotide variant | NM_000126.4(ETFA):c.-31T>C | not specified [RCV000614591] | likely benign | 15 | 76311419 | 76311419 | Human | | name |
| 13532814 | CV505388 | single nucleotide variant | NM_000126.4(ETFA):c.-48C>T | not specified [RCV000601482] | likely benign | 15 | 76311436 | 76311436 | Human | | name |
| 28892912 | CV874187 | single nucleotide variant | NM_000126.4(ETFA):c.*46C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001121507]|not provided [RCV004693758] | uncertain significance | 15 | 76216513 | 76216513 | Human | 1 | name |
| 28887336 | CV874192 | single nucleotide variant | NM_000126.4(ETFA):c.-71T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV001119612] | uncertain significance | 15 | 76311459 | 76311459 | Human | 1 | name |
| 127235810 | CV1081356 | single nucleotide variant | NM_000126.4(ETFA):c.39+8C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001396775] | likely benign | 15 | 76311342 | 76311342 | Human | 1 | name |
| 127316483 | CV1124598 | single nucleotide variant | NM_000126.4(ETFA):c.39+9G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001465554] | likely benign | 15 | 76311341 | 76311341 | Human | 1 | name |
| 152101041 | CV1606813 | single nucleotide variant | NM_000126.4(ETFA):c.40-8C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002195552] | likely benign | 15 | 76295745 | 76295745 | Human | 1 | name |
| 155957856 | CV2078460 | single nucleotide variant | NM_000126.4(ETFA):c.39+8C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002880867] | likely benign | 15 | 76311342 | 76311342 | Human | 1 | name |
| 404992451 | CV2866983 | single nucleotide variant | NM_000126.4(ETFA):c.39+7C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003512967] | likely benign | 15 | 76311343 | 76311343 | Human | 1 | name |
| 404993680 | CV2875081 | single nucleotide variant | NM_000126.4(ETFA):c.39+1G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003513097] | likely pathogenic | 15 | 76311349 | 76311349 | Human | 1 | name |
| 404982992 | CV2920342 | single nucleotide variant | NM_000126.4(ETFA):c.39+1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003511830] | likely pathogenic | 15 | 76311349 | 76311349 | Human | 1 | name |
| 402471755 | CV3060828 | single nucleotide variant | NM_000126.4(ETFA):c.39+9G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003624322] | likely benign | 15 | 76311341 | 76311341 | Human | 1 | name |
| 11624757 | CV333069 | single nucleotide variant | NM_000126.4(ETFA):c.*268A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV000390524]|not provided [RCV001712030] | benign|likely benign | 15 | 76216291 | 76216291 | Human | 1 | name |
| 11618362 | CV333071 | single nucleotide variant | NM_000126.4(ETFA):c.*216A>T | Multiple acyl-CoA dehydrogenase deficiency [RCV000313076]|not provided [RCV001712106] | benign | 15 | 76216343 | 76216343 | Human | 1 | name |
| 14730361 | CV668019 | single nucleotide variant | NM_000126.3(ETFA):c.-199G>A | not provided [RCV000835641] | benign | 15 | 76311587 | 76311587 | Human | | name |
| 127275582 | CV1081344 | single nucleotide variant | NM_000126.4(ETFA):c.883-6T>C | ETFA-related disorder [RCV003930868]|Multiple acyl-CoA dehydrogenase deficiency [RCV001406775] | likely benign | 15 | 76225935 | 76225935 | Human | 1 | name , trait , alternate_id |
| 127278238 | CV1081350 | single nucleotide variant | NM_000126.4(ETFA):c.352-8G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001408371] | likely benign | 15 | 76287953 | 76287953 | Human | 1 | name |
| 127282182 | CV1103151 | single nucleotide variant | NM_000126.4(ETFA):c.882+7G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV001447666] | likely benign | 15 | 76231326 | 76231326 | Human | 1 | name |
| 127270996 | CV1103152 | single nucleotide variant | NM_000126.4(ETFA):c.882+7G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001430795] | likely benign | 15 | 76231326 | 76231326 | Human | 1 | name |
| 127273097 | CV1103155 | single nucleotide variant | NM_000126.4(ETFA):c.351+8G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001431545] | likely benign | 15 | 76292423 | 76292423 | Human | 1 | name |
| 127250800 | CV1103158 | single nucleotide variant | NM_000126.4(ETFA):c.186+9T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV001425444] | likely benign | 15 | 76295582 | 76295582 | Human | 1 | name |
| 127300362 | CV1124588 | deletion | NM_000126.4(ETFA):c.963+9del | Multiple acyl-CoA dehydrogenase deficiency [RCV001453870] | likely benign | 15 | 76225840 | 76225840 | Human | 1 | name |
| 127321707 | CV1124590 | single nucleotide variant | NM_000126.4(ETFA):c.882+8T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV001467349] | likely benign | 15 | 76231325 | 76231325 | Human | 1 | name |
| 127325820 | CV1124596 | single nucleotide variant | NM_000126.4(ETFA):c.187-4A>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001468610] | likely benign | 15 | 76292704 | 76292704 | Human | 1 | name |
| 127332281 | CV1145444 | single nucleotide variant | NM_000126.4(ETFA):c.563-6A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV001489399] | likely benign | 15 | 76285744 | 76285744 | Human | 1 | name |
| 127322027 | CV1145449 | single nucleotide variant | NM_000126.4(ETFA):c.269-5C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001484817] | likely benign | 15 | 76292518 | 76292518 | Human | 1 | name |
| 150418950 | CV1198684 | single nucleotide variant | NM_000126.4(ETFA):c.39+85C>G | not provided [RCV001576961] | likely benign | 15 | 76311265 | 76311265 | Human | | name |
| 150448996 | CV1202384 | single nucleotide variant | NM_000126.4(ETFA):c.39+31G>C | not provided [RCV001584981] | likely benign | 15 | 76311319 | 76311319 | Human | | name |
| 150482517 | CV1223438 | deletion | NM_000126.4(ETFA):c.39+80del | not provided [RCV001617151] | benign | 15 | 76311270 | 76311270 | Human | | name |
| 150513395 | CV1228995 | duplication | NM_000126.4(ETFA):c.40-66dup | not provided [RCV001637837] | benign | 15 | 76295786 | 76295787 | Human | | name |
| 150435308 | CV1244383 | single nucleotide variant | NM_000126.4(ETFA):c.40-45G>C | not provided [RCV001665374] | likely benign | 15 | 76295782 | 76295782 | Human | | name |
| 150463954 | CV1252597 | deletion | NM_000126.4(ETFA):c.40-50del | not provided [RCV001669920] | benign | 15 | 76295787 | 76295787 | Human | | name |
| 151761783 | CV1346571 | single nucleotide variant | NM_000126.4(ETFA):c.269-8A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV001970276] | uncertain significance | 15 | 76292521 | 76292521 | Human | 1 | name |
| 151875452 | CV1459888 | single nucleotide variant | NM_000126.4(ETFA):c.186+1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002036201] | likely pathogenic | 15 | 76295590 | 76295590 | Human | 1 | name |
| 151842096 | CV1473506 | single nucleotide variant | NM_000126.4(ETFA):c.452-2A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002031943] | likely pathogenic | 15 | 76286483 | 76286483 | Human | 1 | name |
| 152150419 | CV1531373 | single nucleotide variant | NM_000126.4(ETFA):c.883-4A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002201876] | likely benign | 15 | 76225933 | 76225933 | Human | 1 | name |
| 152032762 | CV1537916 | single nucleotide variant | NM_000126.4(ETFA):c.816+9T>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002186958] | likely benign | 15 | 76274403 | 76274403 | Human | 1 | name |
| 152032298 | CV1548967 | single nucleotide variant | NM_000126.4(ETFA):c.883-9A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002086550] | likely benign | 15 | 76225938 | 76225938 | Human | 1 | name |
| 152069292 | CV1566839 | duplication | NM_000126.4(ETFA):c.883-9dup | Multiple acyl-CoA dehydrogenase deficiency [RCV002111228] | likely benign | 15 | 76225937 | 76225938 | Human | 1 | name |
| 152107007 | CV1577770 | duplication | NM_000126.4(ETFA):c.40-19dup | Multiple acyl-CoA dehydrogenase deficiency [RCV002096311] | benign | 15 | 76295755 | 76295756 | Human | 1 | name |
| 152052227 | CV1581025 | single nucleotide variant | NM_000126.4(ETFA):c.563-5T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002089301] | likely benign | 15 | 76285743 | 76285743 | Human | 1 | name |
| 152128215 | CV1584093 | single nucleotide variant | NM_000126.4(ETFA):c.964-4G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002082507] | likely benign | 15 | 76216601 | 76216601 | Human | 1 | name |
| 152085710 | CV1599265 | single nucleotide variant | NM_000126.4(ETFA):c.563-8G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002093451] | likely benign | 15 | 76285746 | 76285746 | Human | 1 | name |
| 152074501 | CV1647527 | single nucleotide variant | NM_000126.4(ETFA):c.40-16T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002210414] | likely benign | 15 | 76295753 | 76295753 | Human | 1 | name |
| 152075788 | CV1653053 | single nucleotide variant | NM_000126.4(ETFA):c.882+7G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002148677] | likely benign | 15 | 76231326 | 76231326 | Human | 1 | name |
| 152099872 | CV1655205 | single nucleotide variant | NM_000126.4(ETFA):c.351+8G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002115186] | likely benign | 15 | 76292423 | 76292423 | Human | 1 | name |
| 8556907 | CV17636 | deletion | NM_000126.4(ETFA):c.963+1del | Glutaric acidemia IIa [RCV000002715]|Multiple acyl-CoA dehydrogenase deficiency [RCV002496235]|not specified [RCV003155011] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 15 | 76225848 | 76225848 | Human | 1 | name , alternate_id |
| 156318790 | CV1876177 | deletion | NM_000126.4(ETFA):c.40-19del | Multiple acyl-CoA dehydrogenase deficiency [RCV003062925] | benign | 15 | 76295756 | 76295756 | Human | 1 | name |
| 156394554 | CV1876414 | single nucleotide variant | NM_000126.4(ETFA):c.883-5C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003068434] | likely benign | 15 | 76225934 | 76225934 | Human | 1 | name |
| 156156954 | CV1928158 | single nucleotide variant | NM_000126.4(ETFA):c.882+3A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002664099] | uncertain significance | 15 | 76231330 | 76231330 | Human | 1 | name |
| 156434015 | CV1946736 | single nucleotide variant | NM_000126.4(ETFA):c.268+1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003104196] | likely pathogenic | 15 | 76292618 | 76292618 | Human | 1 | name |
| 155977485 | CV1972237 | single nucleotide variant | NM_000126.4(ETFA):c.187-3T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002617453] | uncertain significance | 15 | 76292703 | 76292703 | Human | 1 | name |
| 156214630 | CV1997354 | single nucleotide variant | NM_000126.4(ETFA):c.665-4T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002666978] | likely benign | 15 | 76283829 | 76283829 | Human | 1 | name |
| 10056186 | CV200298 | single nucleotide variant | NM_000126.4(ETFA):c.186+7A>G | Glutaric acidemia type 2A [RCV001833109]|Multiple acyl-CoA dehydrogenase deficiency [RCV000323787]|not provided [RCV000676980]|not specified [RCV000185862] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 76295584 | 76295584 | Human | 2 | name |
| 156077209 | CV2011844 | single nucleotide variant | NM_000126.4(ETFA):c.452-9A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002705871] | likely benign | 15 | 76286490 | 76286490 | Human | 1 | name |
| 156104773 | CV2038454 | single nucleotide variant | NM_000126.4(ETFA):c.963+8G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002761451] | likely benign | 15 | 76225841 | 76225841 | Human | 1 | name |
| 156004629 | CV2054232 | single nucleotide variant | NM_000126.4(ETFA):c.817-7A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002819819] | likely benign | 15 | 76231405 | 76231405 | Human | 1 | name |
| 156185033 | CV2055650 | single nucleotide variant | NM_000126.4(ETFA):c.817-8T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002828429] | likely benign | 15 | 76231406 | 76231406 | Human | 1 | name |
| 155993782 | CV2063899 | single nucleotide variant | NM_000126.4(ETFA):c.733+8T>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002843083] | likely benign | 15 | 76283749 | 76283749 | Human | 1 | name |
| 156068862 | CV2065687 | single nucleotide variant | NM_000126.4(ETFA):c.562+8T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002847011] | likely benign | 15 | 76286363 | 76286363 | Human | 1 | name |
| 156017030 | CV2083536 | single nucleotide variant | NM_000126.4(ETFA):c.562+8T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002866412] | likely benign | 15 | 76286363 | 76286363 | Human | 1 | name |
| 156292272 | CV2111465 | single nucleotide variant | NM_000126.4(ETFA):c.563-9T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002922202] | likely benign | 15 | 76285747 | 76285747 | Human | 1 | name |
| 156136290 | CV2141100 | single nucleotide variant | NM_000126.4(ETFA):c.352-2A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002982147] | likely pathogenic | 15 | 76287947 | 76287947 | Human | 1 | name |
| 156364088 | CV2176753 | single nucleotide variant | NM_000126.4(ETFA):c.563-4G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003049222] | likely benign | 15 | 76285742 | 76285742 | Human | 1 | name |
| 156094772 | CV2183453 | single nucleotide variant | NM_000126.4(ETFA):c.664+8A>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003054493] | likely benign | 15 | 76285629 | 76285629 | Human | 1 | name |
| 401949733 | CV2834353 | single nucleotide variant | NM_000126.4(ETFA):c.268+1G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003475604] | likely pathogenic | 15 | 76292618 | 76292618 | Human | 1 | name |
| 401949736 | CV2834356 | duplication | NM_000126.4(ETFA):c.664+2dup | Multiple acyl-CoA dehydrogenase deficiency [RCV003475607] | likely pathogenic | 15 | 76285634 | 76285635 | Human | 1 | name |
| 401949737 | CV2834357 | single nucleotide variant | NM_000126.4(ETFA):c.665-1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003475608] | likely pathogenic | 15 | 76283826 | 76283826 | Human | 1 | name |
| 401949739 | CV2834359 | single nucleotide variant | NM_000126.4(ETFA):c.451+1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003475610] | likely pathogenic | 15 | 76287845 | 76287845 | Human | 1 | name |
| 404992096 | CV2856867 | single nucleotide variant | NM_000126.4(ETFA):c.817-2A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003512928] | likely pathogenic | 15 | 76231400 | 76231400 | Human | 1 | name |
| 404992549 | CV2877650 | single nucleotide variant | NM_000126.4(ETFA):c.817-5T>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003512978] | likely benign | 15 | 76231403 | 76231403 | Human | 1 | name |
| 404994190 | CV2879380 | single nucleotide variant | NM_000126.4(ETFA):c.733+9A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003513168] | likely benign | 15 | 76283748 | 76283748 | Human | 1 | name |
| 404997466 | CV2889993 | single nucleotide variant | NM_000126.4(ETFA):c.40-17C>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003513481] | likely benign | 15 | 76295754 | 76295754 | Human | 1 | name |
| 404998449 | CV2890861 | single nucleotide variant | NM_000126.4(ETFA):c.40-19T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003513571] | likely benign | 15 | 76295756 | 76295756 | Human | 1 | name |
| 404996888 | CV2892837 | single nucleotide variant | NM_000126.4(ETFA):c.186+7A>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003513425] | likely benign | 15 | 76295584 | 76295584 | Human | 1 | name |
| 404999893 | CV2899227 | single nucleotide variant | NM_000126.4(ETFA):c.269-5C>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003513730] | likely benign | 15 | 76292518 | 76292518 | Human | 1 | name |
| 404981753 | CV2904548 | single nucleotide variant | NM_000126.4(ETFA):c.39+14G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003511647] | likely benign | 15 | 76311336 | 76311336 | Human | 1 | name |
| 404982239 | CV2913046 | single nucleotide variant | NM_000126.4(ETFA):c.452-7G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003511728] | likely benign | 15 | 76286488 | 76286488 | Human | 1 | name |
| 404990297 | CV2927421 | single nucleotide variant | NM_000126.4(ETFA):c.269-2A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003512741] | likely pathogenic | 15 | 76292515 | 76292515 | Human | 1 | name |
| 404990528 | CV2927676 | single nucleotide variant | NM_000126.4(ETFA):c.39+11A>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003512765] | likely benign | 15 | 76311339 | 76311339 | Human | 1 | name |
| 404988011 | CV2930560 | single nucleotide variant | NM_000126.4(ETFA):c.186+8A>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003512509] | likely benign | 15 | 76295583 | 76295583 | Human | 1 | name |
| 404990039 | CV2932897 | single nucleotide variant | NM_000126.4(ETFA):c.351+1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003512715] | likely pathogenic | 15 | 76292430 | 76292430 | Human | 1 | name |
| 402473028 | CV2945878 | single nucleotide variant | NM_000126.4(ETFA):c.39+17A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003624668] | likely benign | 15 | 76311333 | 76311333 | Human | 1 | name |
| 402473091 | CV2949459 | deletion | NM_000126.4(ETFA):c.734-9del | Multiple acyl-CoA dehydrogenase deficiency [RCV003624682] | benign | 15 | 76274503 | 76274503 | Human | 1 | name |
| 402473397 | CV2958221 | deletion | NM_000126.4(ETFA):c.817-8del | Multiple acyl-CoA dehydrogenase deficiency [RCV003624766] | benign | 15 | 76231406 | 76231406 | Human | 1 | name |
| 402475112 | CV2964370 | single nucleotide variant | NM_000126.4(ETFA):c.964-4G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003625124] | likely benign | 15 | 76216601 | 76216601 | Human | 1 | name |
| 402475484 | CV2965812 | single nucleotide variant | NM_000126.4(ETFA):c.352-1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003625195] | likely pathogenic | 15 | 76287946 | 76287946 | Human | 1 | name |
| 402476683 | CV2982927 | single nucleotide variant | NM_000126.4(ETFA):c.734-8C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003625425] | likely benign | 15 | 76274502 | 76274502 | Human | 1 | name |
| 402477695 | CV3002367 | single nucleotide variant | NM_000126.4(ETFA):c.734-2A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003625606] | likely pathogenic | 15 | 76274496 | 76274496 | Human | 1 | name |
| 402479345 | CV3012929 | single nucleotide variant | NM_000126.4(ETFA):c.452-7G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003625848] | likely benign | 15 | 76286488 | 76286488 | Human | 1 | name |
| 402470273 | CV3031002 | single nucleotide variant | NM_000126.4(ETFA):c.351+2T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003623931] | likely pathogenic | 15 | 76292429 | 76292429 | Human | 1 | name |
| 402473960 | CV3069792 | single nucleotide variant | NM_000126.4(ETFA):c.352-7C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003624907] | likely benign | 15 | 76287952 | 76287952 | Human | 1 | name |
| 402474550 | CV3076628 | deletion | NM_000126.4(ETFA):c.39+18del | Multiple acyl-CoA dehydrogenase deficiency [RCV003625017] | likely benign | 15 | 76311332 | 76311332 | Human | 1 | name |
| 405093481 | CV3134646 | single nucleotide variant | NM_000126.4(ETFA):c.39+19G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003834992] | likely benign | 15 | 76311331 | 76311331 | Human | 1 | name |
| 405241324 | CV3176848 | single nucleotide variant | NM_000126.4(ETFA):c.733+8T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003867286] | likely benign | 15 | 76283749 | 76283749 | Human | 1 | name |
| 405873978 | CV3400397 | single nucleotide variant | NM_000126.4(ETFA):c.451+1G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV004576400] | likely pathogenic | 15 | 76287845 | 76287845 | Human | 1 | name |
| 408381562 | CV3518084 | single nucleotide variant | NM_000126.4(ETFA):c.964-1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV004732510] | likely pathogenic | 15 | 76216598 | 76216598 | Human | 1 | name |
| 597632647 | CV3704331 | single nucleotide variant | NM_000126.4(ETFA):c.562+1G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV005003208] | likely pathogenic | 15 | 76286370 | 76286370 | Human | 1 | name |
| 597872724 | CV3768782 | single nucleotide variant | NM_000126.4(ETFA):c.817-9T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV005122952] | likely benign | 15 | 76231407 | 76231407 | Human | 1 | name |
| 597953192 | CV3775841 | single nucleotide variant | NM_000126.4(ETFA):c.817-7A>T | Multiple acyl-CoA dehydrogenase deficiency [RCV005121384] | likely benign | 15 | 76231405 | 76231405 | Human | 1 | name |
| 598127898 | CV3882951 | single nucleotide variant | NM_000126.4(ETFA):c.186+5G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV005234484] | uncertain significance | 15 | 76295586 | 76295586 | Human | 1 | name |
| 13528619 | CV504964 | single nucleotide variant | NM_000126.4(ETFA):c.882+5T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV001860309]|not specified [RCV000605516] | likely benign|uncertain significance | 15 | 76231328 | 76231328 | Human | 1 | name |
| 13828875 | CV581772 | single nucleotide variant | NM_000126.4(ETFA):c.964-1G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV000721997] | uncertain significance | 15 | 76216598 | 76216598 | Human | 1 | name |
| 14704793 | CV652432 | single nucleotide variant | NM_000126.4(ETFA):c.882+6T>G | Glutaric acidemia type 2A [RCV001830716]|Multiple acyl-CoA dehydrogenase deficiency [RCV000798664] | uncertain significance | 15 | 76231327 | 76231327 | Human | 2 | name |
| 15202701 | CV776419 | single nucleotide variant | NM_000126.4(ETFA):c.882+9A>G | Glutaric acidemia type 2A [RCV001272687]|Multiple acyl-CoA dehydrogenase deficiency [RCV001480517] | likely benign|uncertain significance | 15 | 76231324 | 76231324 | Human | 2 | name |
| 15151613 | CV778348 | single nucleotide variant | NM_000126.4(ETFA):c.40-10C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV000945721] | likely benign | 15 | 76295747 | 76295747 | Human | 1 | name |
| 15119542 | CV787909 | single nucleotide variant | NM_000126.4(ETFA):c.186+9T>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001446668] | likely benign | 15 | 76295582 | 76295582 | Human | 1 | name |
| 15107402 | CV788172 | single nucleotide variant | NM_000126.4(ETFA):c.816+8T>A | Multiple acyl-CoA dehydrogenase deficiency [RCV000976820] | likely benign | 15 | 76274404 | 76274404 | Human | 1 | name |
| 26894094 | CV852609 | single nucleotide variant | NM_000126.4(ETFA):c.664+1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001069226] | likely pathogenic | 15 | 76285636 | 76285636 | Human | 1 | name |
| 28882230 | CV876577 | single nucleotide variant | NM_000126.4(ETFA):c.268+3G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001118069] | uncertain significance | 15 | 76292616 | 76292616 | Human | 1 | name |
| 40904710 | CV979670 | single nucleotide variant | NM_000126.4(ETFA):c.883-3C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001277755] | uncertain significance | 15 | 76225932 | 76225932 | Human | 1 | name |
| 40904713 | CV979673 | single nucleotide variant | NM_000126.4(ETFA):c.351+9G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001277759] | likely benign|uncertain significance | 15 | 76292422 | 76292422 | Human | 1 | name |
| 8639368 | CV98351 | single nucleotide variant | NM_000126.4(ETFA):c.39+12C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV000371483]|not provided [RCV001610351]|not specified [RCV000078133] | benign | 15 | 76311338 | 76311338 | Human | 1 | name |
| 127277262 | CV1081343 | single nucleotide variant | NM_000126.4(ETFA):c.964-10T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV001407657] | likely benign | 15 | 76216607 | 76216607 | Human | 1 | name |
| 127334329 | CV1145440 | single nucleotide variant | NM_000126.4(ETFA):c.883-10T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV001490762] | likely benign | 15 | 76225939 | 76225939 | Human | 1 | name |
| 127293262 | CV1157535 | deletion | NM_000126.4(ETFA):c.665-17del | Multiple acyl-CoA dehydrogenase deficiency [RCV001511263] | benign | 15 | 76283842 | 76283842 | Human | 1 | name |
| 127286337 | CV1161921 | single nucleotide variant | NM_000126.4(ETFA):c.817-32A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV001526776]|not provided [RCV001692437] | benign | 15 | 76231430 | 76231430 | Human | 1 | name |
| 127286339 | CV1161922 | single nucleotide variant | NM_000126.4(ETFA):c.733+38T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV001526777]|not provided [RCV004715477] | benign | 15 | 76283719 | 76283719 | Human | 1 | name |
| 150417268 | CV1181300 | single nucleotide variant | NM_000126.4(ETFA):c.817-85A>T | not provided [RCV001550046] | likely benign | 15 | 76231483 | 76231483 | Human | | name |
| 150417943 | CV1194990 | deletion | NM_000126.4(ETFA):c.664+58del | not provided [RCV001568994] | likely benign | 15 | 76285579 | 76285579 | Human | | name |
| 150413800 | CV1198682 | single nucleotide variant | NM_000126.4(ETFA):c.664+27T>A | not provided [RCV001574735] | likely benign | 15 | 76285610 | 76285610 | Human | | name |
| 150482608 | CV1244303 | single nucleotide variant | NM_000126.4(ETFA):c.40-244C>T | not provided [RCV001653150] | benign | 15 | 76295981 | 76295981 | Human | | name |
| 150496948 | CV1283456 | duplication | NM_000126.4(ETFA):c.351+83dup | not provided [RCV001717771] | benign | 15 | 76292345 | 76292346 | Human | | name |
| 8690972 | CV140927 | single nucleotide variant | NM_000126.4(ETFA):c.351+17T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV001519264]|not provided [RCV003398743]|not specified [RCV000124908] | benign|likely benign | 15 | 76292414 | 76292414 | Human | 1 | name |
| 8690973 | CV140928 | single nucleotide variant | NM_000126.4(ETFA):c.734-20C>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001518157]|not provided [RCV004714484]|not specified [RCV000124910] | benign | 15 | 76274514 | 76274514 | Human | 1 | name |
| 152027714 | CV1520990 | single nucleotide variant | NM_000126.4(ETFA):c.268+18A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002085223] | likely benign | 15 | 76292601 | 76292601 | Human | 1 | name |
| 152056486 | CV1523046 | single nucleotide variant | NM_000126.4(ETFA):c.817-16A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002167501] | likely benign | 15 | 76231414 | 76231414 | Human | 1 | name |
| 152129453 | CV1549275 | single nucleotide variant | NM_000126.4(ETFA):c.963+14G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002099285] | likely benign | 15 | 76225835 | 76225835 | Human | 1 | name |
| 152041061 | CV1553452 | duplication | NM_000126.4(ETFA):c.665-17dup | Multiple acyl-CoA dehydrogenase deficiency [RCV002087970] | benign | 15 | 76283841 | 76283842 | Human | 1 | name |
| 152154647 | CV1563651 | single nucleotide variant | NM_000126.4(ETFA):c.451+19T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002202496] | likely benign | 15 | 76287827 | 76287827 | Human | 1 | name |
| 152128418 | CV1596546 | single nucleotide variant | NM_000126.4(ETFA):c.351+10T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002118755] | likely benign | 15 | 76292421 | 76292421 | Human | 1 | name |
| 152110034 | CV1603325 | single nucleotide variant | NM_000126.4(ETFA):c.734-10T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002096724] | likely benign | 15 | 76274504 | 76274504 | Human | 1 | name |
| 152061989 | CV1618643 | single nucleotide variant | NM_000126.4(ETFA):c.269-15G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002090358] | likely benign | 15 | 76292528 | 76292528 | Human | 1 | name |
| 152171484 | CV1628316 | single nucleotide variant | NM_000126.4(ETFA):c.883-14T>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002183514] | likely benign | 15 | 76225943 | 76225943 | Human | 1 | name |
| 152157937 | CV1639478 | single nucleotide variant | NM_000126.4(ETFA):c.734-11T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002180406] | likely benign | 15 | 76274505 | 76274505 | Human | 1 | name |
| 152058390 | CV1652007 | single nucleotide variant | NM_000126.4(ETFA):c.562+16G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002190237] | likely benign | 15 | 76286355 | 76286355 | Human | 1 | name |
| 152053251 | CV1665184 | single nucleotide variant | NM_000126.4(ETFA):c.733+16T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002089419] | likely benign | 15 | 76283741 | 76283741 | Human | 1 | name |
| 156318846 | CV1900212 | single nucleotide variant | NM_000126.4(ETFA):c.665-17T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003088876] | likely benign | 15 | 76283842 | 76283842 | Human | 1 | name |
| 156344959 | CV1907758 | single nucleotide variant | NM_000126.4(ETFA):c.187-13C>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003090582] | likely benign | 15 | 76292713 | 76292713 | Human | 1 | name |
| 156068322 | CV1927990 | single nucleotide variant | NM_000126.4(ETFA):c.451+12A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002638517] | likely benign | 15 | 76287834 | 76287834 | Human | 1 | name |
| 156120675 | CV1959332 | single nucleotide variant | NM_000126.4(ETFA):c.883-18T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002571849] | likely benign | 15 | 76225947 | 76225947 | Human | 1 | name |
| 155966616 | CV2048466 | single nucleotide variant | NM_000126.4(ETFA):c.816+13A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002776522] | likely benign | 15 | 76274399 | 76274399 | Human | 1 | name |
| 156038724 | CV2089525 | single nucleotide variant | NM_000126.4(ETFA):c.451+11A>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002867352] | likely benign | 15 | 76287835 | 76287835 | Human | 1 | name |
| 156012059 | CV2124663 | single nucleotide variant | NM_000126.4(ETFA):c.882+15G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002948324] | likely benign | 15 | 76231318 | 76231318 | Human | 1 | name |
| 156123309 | CV2124763 | single nucleotide variant | NM_000126.4(ETFA):c.733+18A>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002953583] | likely benign | 15 | 76283739 | 76283739 | Human | 1 | name |
| 156025507 | CV2131246 | single nucleotide variant | NM_000126.4(ETFA):c.268+11C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002976366] | likely benign | 15 | 76292608 | 76292608 | Human | 1 | name |
| 156136525 | CV2165706 | single nucleotide variant | NM_000126.4(ETFA):c.562+10C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003022372] | likely benign | 15 | 76286361 | 76286361 | Human | 1 | name |
| 156101125 | CV2180066 | single nucleotide variant | NM_000126.4(ETFA):c.665-13C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003054731] | likely benign | 15 | 76283838 | 76283838 | Human | 1 | name |
| 404986241 | CV2861082 | single nucleotide variant | NM_000126.4(ETFA):c.963+17A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003512315] | likely benign | 15 | 76225832 | 76225832 | Human | 1 | name |
| 404993697 | CV2878181 | single nucleotide variant | NM_000126.4(ETFA):c.562+18G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003513022] | likely benign | 15 | 76286353 | 76286353 | Human | 1 | name |
| 404995464 | CV2884611 | single nucleotide variant | NM_000126.4(ETFA):c.964-18T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003513294] | likely benign | 15 | 76216615 | 76216615 | Human | 1 | name |
| 404997791 | CV2893530 | single nucleotide variant | NM_000126.4(ETFA):c.883-18T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003513510] | likely benign | 15 | 76225947 | 76225947 | Human | 1 | name |
| 404981001 | CV2903194 | single nucleotide variant | NM_000126.4(ETFA):c.268+14G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003511504] | likely benign | 15 | 76292605 | 76292605 | Human | 1 | name |
| 405000084 | CV2905822 | duplication | NM_000126.4(ETFA):c.665-16dup | Multiple acyl-CoA dehydrogenase deficiency [RCV003513751] | likely benign | 15 | 76283840 | 76283841 | Human | 1 | name |
| 405000110 | CV2905902 | single nucleotide variant | NM_000126.4(ETFA):c.963+14G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003513754] | likely benign | 15 | 76225835 | 76225835 | Human | 1 | name |
| 404983280 | CV2914564 | single nucleotide variant | NM_000126.4(ETFA):c.665-12T>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003511867] | likely benign | 15 | 76283837 | 76283837 | Human | 1 | name |
| 404982757 | CV2920168 | single nucleotide variant | NM_000126.4(ETFA):c.733+16T>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003511799] | likely benign | 15 | 76283741 | 76283741 | Human | 1 | name |
| 404983075 | CV2920641 | single nucleotide variant | NM_000126.4(ETFA):c.664+20T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003511841] | likely benign | 15 | 76285617 | 76285617 | Human | 1 | name |
| 402473663 | CV2956275 | single nucleotide variant | NM_000126.4(ETFA):c.268+12C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003624838] | likely benign | 15 | 76292607 | 76292607 | Human | 1 | name |
| 402473742 | CV2970255 | single nucleotide variant | NM_000126.4(ETFA):c.734-17A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003624856] | likely benign | 15 | 76274511 | 76274511 | Human | 1 | name |
| 402477086 | CV2980358 | single nucleotide variant | NM_000126.4(ETFA):c.563-11A>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003625495] | likely benign | 15 | 76285749 | 76285749 | Human | 1 | name |
| 402477237 | CV2998296 | single nucleotide variant | NM_000126.4(ETFA):c.452-13T>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003625528] | likely benign | 15 | 76286494 | 76286494 | Human | 1 | name |
| 402478750 | CV3015054 | single nucleotide variant | NM_000126.4(ETFA):c.269-15G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003625772] | likely benign | 15 | 76292528 | 76292528 | Human | 1 | name |
| 402479826 | CV3017394 | single nucleotide variant | NM_000126.4(ETFA):c.451+15A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003625929] | likely benign | 15 | 76287831 | 76287831 | Human | 1 | name |
| 402470477 | CV3035335 | single nucleotide variant | NM_000126.4(ETFA):c.351+20G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003623987] | likely benign | 15 | 76292411 | 76292411 | Human | 1 | name |
| 402470449 | CV3040786 | single nucleotide variant | NM_000126.4(ETFA):c.562+11A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003623979] | likely benign | 15 | 76286360 | 76286360 | Human | 1 | name |
| 402471130 | CV3044786 | single nucleotide variant | NM_000126.4(ETFA):c.268+15T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003624163] | likely benign | 15 | 76292604 | 76292604 | Human | 1 | name |
| 402471290 | CV3048778 | single nucleotide variant | NM_000126.4(ETFA):c.187-14T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003624208] | likely benign | 15 | 76292714 | 76292714 | Human | 1 | name |
| 402471398 | CV3049640 | single nucleotide variant | NM_000126.4(ETFA):c.665-18T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003624237] | likely benign | 15 | 76283843 | 76283843 | Human | 1 | name |
| 402471353 | CV3052325 | single nucleotide variant | NM_000126.4(ETFA):c.351+18G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003624225] | likely benign | 15 | 76292413 | 76292413 | Human | 1 | name |
| 402471368 | CV3052400 | single nucleotide variant | NM_000126.4(ETFA):c.964-20C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003624229] | likely benign | 15 | 76216617 | 76216617 | Human | 1 | name |
| 402472082 | CV3068400 | single nucleotide variant | NM_000126.4(ETFA):c.452-17T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003624355] | likely benign | 15 | 76286498 | 76286498 | Human | 1 | name |
| 402473971 | CV3069862 | single nucleotide variant | NM_000126.4(ETFA):c.665-15A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003624909] | likely benign | 15 | 76283840 | 76283840 | Human | 1 | name |
| 405210485 | CV3117670 | single nucleotide variant | NM_000126.4(ETFA):c.882+14A>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003823269] | likely benign | 15 | 76231319 | 76231319 | Human | 1 | name |
| 405085821 | CV3121943 | single nucleotide variant | NM_000126.4(ETFA):c.562+13T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003810698] | likely benign | 15 | 76286358 | 76286358 | Human | 1 | name |
| 405161697 | CV3125134 | single nucleotide variant | NM_000126.4(ETFA):c.269-19A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003818405] | likely benign | 15 | 76292532 | 76292532 | Human | 1 | name |
| 405039351 | CV3140982 | single nucleotide variant | NM_000126.4(ETFA):c.352-16C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003831275] | likely benign | 15 | 76287961 | 76287961 | Human | 1 | name |
| 405198514 | CV3147069 | single nucleotide variant | NM_000126.4(ETFA):c.187-18C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003844229] | likely benign | 15 | 76292718 | 76292718 | Human | 1 | name |
| 405158887 | CV3159839 | single nucleotide variant | NM_000126.4(ETFA):c.665-14T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003856910] | likely benign | 15 | 76283839 | 76283839 | Human | 1 | name |
| 405159361 | CV3159873 | single nucleotide variant | NM_000126.4(ETFA):c.451+17G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003856944]|not provided [RCV004703334] | likely benign | 15 | 76287829 | 76287829 | Human | 1 | name |
| 405237964 | CV3166988 | single nucleotide variant | NM_000126.4(ETFA):c.187-17T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003854243] | likely benign | 15 | 76292717 | 76292717 | Human | 1 | name |
| 402481426 | CV3170800 | single nucleotide variant | NM_000126.4(ETFA):c.562+15G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003876003] | likely benign | 15 | 76286356 | 76286356 | Human | 1 | name |
| 404996481 | CV3172887 | single nucleotide variant | NM_000126.4(ETFA):c.352-19C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003882169] | likely benign | 15 | 76287964 | 76287964 | Human | 1 | name |
| 402469606 | CV3174796 | single nucleotide variant | NM_000126.4(ETFA):c.664+16A>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003873906] | likely benign | 15 | 76285621 | 76285621 | Human | 1 | name |
| 11613890 | CV333075 | single nucleotide variant | NM_000126.4(ETFA):c.562+11A>T | Multiple acyl-CoA dehydrogenase deficiency [RCV000272341]|not specified [RCV000443607] | benign|uncertain significance | 15 | 76286360 | 76286360 | Human | 1 | name |
| 12837233 | CV374337 | single nucleotide variant | NM_000126.4(ETFA):c.451+14G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002062404]|not specified [RCV000424816] | benign|likely benign | 15 | 76287832 | 76287832 | Human | 1 | name |
| 12842913 | CV374340 | single nucleotide variant | NM_000126.4(ETFA):c.186+16G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001523630]|not specified [RCV000435269] | benign | 15 | 76295575 | 76295575 | Human | 1 | name |
| 597867931 | CV3764176 | deletion | NM_000126.4(ETFA):c.452-12del | Multiple acyl-CoA dehydrogenase deficiency [RCV005107173] | likely benign | 15 | 76286493 | 76286493 | Human | 1 | name |
| 597926805 | CV3772709 | single nucleotide variant | NM_000126.4(ETFA):c.563-12T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV005115859] | likely benign | 15 | 76285750 | 76285750 | Human | 1 | name |
| 597952353 | CV3795109 | single nucleotide variant | NM_000126.4(ETFA):c.269-17A>C | Multiple acyl-CoA dehydrogenase deficiency [RCV005136321] | likely benign | 15 | 76292530 | 76292530 | Human | 1 | name |
| 597958798 | CV3797376 | single nucleotide variant | NM_000126.4(ETFA):c.665-19T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV005138063] | likely benign | 15 | 76283844 | 76283844 | Human | 1 | name |
| 597865271 | CV3823299 | single nucleotide variant | NM_000126.4(ETFA):c.817-15C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV005175649] | likely benign | 15 | 76231413 | 76231413 | Human | 1 | name |
| 13535161 | CV505193 | single nucleotide variant | NM_000126.4(ETFA):c.817-12C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002531509]|not provided [RCV001722659] | likely benign | 15 | 76231410 | 76231410 | Human | 1 | name |
| 13529752 | CV505386 | deletion | NM_000126.4(ETFA):c.452-11del | Multiple acyl-CoA dehydrogenase deficiency [RCV002529565]|not specified [RCV000600425] | likely benign | 15 | 76286492 | 76286492 | Human | 1 | name |
| 13538764 | CV505809 | single nucleotide variant | NM_000126.4(ETFA):c.964-20C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002063277]|not specified [RCV000612313] | benign|likely benign | 15 | 76216617 | 76216617 | Human | 1 | name |
| 13537300 | CV505811 | deletion | NM_000126.4(ETFA):c.882+20del | not specified [RCV000610220] | likely benign | 15 | 76231313 | 76231313 | Human | | name |
| 14739040 | CV667946 | single nucleotide variant | NM_000126.4(ETFA):c.39+234G>A | not provided [RCV000839685] | likely benign | 15 | 76311116 | 76311116 | Human | | name |
| 14724584 | CV668377 | single nucleotide variant | NM_000126.4(ETFA):c.882+54G>T | not provided [RCV000833050] | benign | 15 | 76231279 | 76231279 | Human | | name |
| 14746177 | CV668387 | single nucleotide variant | NM_000126.4(ETFA):c.40-269A>G | not provided [RCV000844163] | benign | 15 | 76296006 | 76296006 | Human | | name |
| 15136352 | CV787905 | single nucleotide variant | NM_000126.4(ETFA):c.733+10T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV000982097] | likely benign | 15 | 76283747 | 76283747 | Human | 1 | name |
| 28877580 | CV876575 | single nucleotide variant | NM_000126.4(ETFA):c.882+10C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001116619] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 76231323 | 76231323 | Human | 1 | name |
| 28882225 | CV876576 | single nucleotide variant | NM_000126.4(ETFA):c.351+12G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001118068] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 76292419 | 76292419 | Human | 1 | name |
| 150331845 | CV1169650 | single nucleotide variant | NM_000126.4(ETFA):c.817-301T>C | not provided [RCV001536649] | likely benign | 15 | 76231699 | 76231699 | Human | | name |
| 150424585 | CV1185025 | single nucleotide variant | NM_000126.4(ETFA):c.963+208A>G | not provided [RCV001556859] | likely benign | 15 | 76225641 | 76225641 | Human | | name |
| 150425568 | CV1185026 | single nucleotide variant | NM_000126.4(ETFA):c.883-269T>A | not provided [RCV001558171] | likely benign | 15 | 76226198 | 76226198 | Human | | name |
| 150428085 | CV1188278 | single nucleotide variant | NM_000126.4(ETFA):c.734-107A>G | not provided [RCV001561790] | likely benign | 15 | 76274601 | 76274601 | Human | | name |
| 150427391 | CV1188279 | single nucleotide variant | NM_000126.4(ETFA):c.733+250T>C | not provided [RCV001560862] | likely benign | 15 | 76283507 | 76283507 | Human | | name |
| 150416735 | CV1194989 | single nucleotide variant | NM_000126.4(ETFA):c.963+260C>T | not provided [RCV001568472] | likely benign | 15 | 76225589 | 76225589 | Human | | name |
| 150422313 | CV1194991 | single nucleotide variant | NM_000126.4(ETFA):c.562+104A>C | not provided [RCV001570983] | likely benign | 15 | 76286267 | 76286267 | Human | | name |
| 150417477 | CV1198681 | single nucleotide variant | NM_000126.4(ETFA):c.733+113G>A | not provided [RCV001576314] | likely benign | 15 | 76283644 | 76283644 | Human | | name |
| 150459416 | CV1202921 | single nucleotide variant | NM_000126.4(ETFA):c.562+100T>C | not provided [RCV001586574] | likely benign | 15 | 76286271 | 76286271 | Human | | name |
| 150431438 | CV1206350 | single nucleotide variant | NM_000126.4(ETFA):c.451+287T>C | not provided [RCV001580999] | likely benign | 15 | 76287559 | 76287559 | Human | | name |
| 150487679 | CV1208142 | single nucleotide variant | NM_000126.4(ETFA):c.452-212C>T | not provided [RCV001592002] | likely benign | 15 | 76286693 | 76286693 | Human | | name |
| 150504212 | CV1240709 | single nucleotide variant | NM_000126.4(ETFA):c.452-175G>A | not provided [RCV001657552] | benign | 15 | 76286656 | 76286656 | Human | | name |
| 151727607 | CV1241973 | deletion | NM_000126.4(ETFA):c.*27_*30del | Multiple acyl-CoA dehydrogenase deficiency [RCV001844341] | pathogenic | 15 | 76216529 | 76216532 | Human | 1 | name |
| 150459144 | CV1269756 | duplication | NM_000126.4(ETFA):c.964-266dup | not provided [RCV001693296] | benign | 15 | 76216840 | 76216841 | Human | | name |
| 150446158 | CV1278272 | single nucleotide variant | NM_000126.4(ETFA):c.963+296A>G | not provided [RCV001707415] | benign | 15 | 76225553 | 76225553 | Human | | name |
| 14742689 | CV667090 | single nucleotide variant | NM_000126.4(ETFA):c.816+227A>G | not provided [RCV000841563] | likely benign | 15 | 76274185 | 76274185 | Human | | name |
| 14719154 | CV667091 | single nucleotide variant | NM_000126.4(ETFA):c.452-268C>T | not provided [RCV000830647] | benign | 15 | 76286749 | 76286749 | Human | 4 | name |
| 14719154 | CV667091 | single nucleotide variant | NM_000126.4(ETFA):c.452-268C>T | not provided [RCV000830647] | benign | 15 | 76286749 | 76286750 | Human | 4 | name |
| 14742775 | CV667092 | single nucleotide variant | NM_000126.4(ETFA):c.352-241G>A | not provided [RCV000841619] | benign | 15 | 76288186 | 76288186 | Human | | name |
| 14721569 | CV667944 | single nucleotide variant | NM_000126.4(ETFA):c.451+253A>G | not provided [RCV000831729] | likely benign | 15 | 76287593 | 76287593 | Human | | name |
| 14746030 | CV668379 | single nucleotide variant | NM_000126.4(ETFA):c.352-261G>A | not provided [RCV000844006] | benign | 15 | 76288206 | 76288206 | Human | | name |
| 14739354 | CV668384 | single nucleotide variant | NM_000126.4(ETFA):c.186+155G>A | not provided [RCV000839838] | benign | 15 | 76295436 | 76295436 | Human | 1 | name |
| 14739354 | CV668384 | single nucleotide variant | NM_000126.4(ETFA):c.186+155G>A | not provided [RCV000839838] | benign | 15 | 76295436 | 76295437 | Human | 1 | name |
| 127318980 | CV1157534 | single nucleotide variant | NM_000126.4(ETFA):c.817-3173C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV001521894] | benign | 15 | 76234571 | 76234571 | Human | 1 | name |
| 155989102 | CV2101909 | deletion | NM_000126.4(ETFA):c.658_664+3del | Multiple acyl-CoA dehydrogenase deficiency [RCV002908070] | likely pathogenic | 15 | 76285634 | 76285643 | Human | 1 | name |
| 404987343 | CV2865629 | deletion | NM_000126.4(ETFA):c.734-1_744del | Multiple acyl-CoA dehydrogenase deficiency [RCV003512439] | likely pathogenic | 15 | 76274484 | 76274495 | Human | 1 | name |
| 408393937 | CV3521638 | deletion | NM_000126.4(ETFA):c.883-1_885del | Multiple acyl-CoA dehydrogenase deficiency [RCV004764436] | likely pathogenic | 15 | 76225927 | 76225930 | Human | 1 | name |
| 156046536 | CV2068099 | deletion | NM_000126.4(ETFA):c.40-17_40-8del | Multiple acyl-CoA dehydrogenase deficiency [RCV002846287] | likely benign | 15 | 76295745 | 76295754 | Human | 1 | name |
| 150488987 | CV1208345 | deletion | NM_000126.4(ETFA):c.40-51_40-50del | not provided [RCV001592205] | likely benign | 15 | 76295787 | 76295788 | Human | | name |
| 150503050 | CV1257700 | duplication | NM_000126.4(ETFA):c.40-66_40-65dup | not provided [RCV001677388] | benign | 15 | 76295786 | 76295787 | Human | | name |
| 11640615 | CV268471 | single nucleotide variant | NM_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 significance | 15 | 76311383 | 76311383 | Human | 2 | name |
| 402470427 | CV3035066 | duplication | NM_000126.4(ETFA):c.40-20_40-19dup | Multiple acyl-CoA dehydrogenase deficiency [RCV003623973] | benign | 15 | 76295755 | 76295756 | Human | 1 | name |
| 405159621 | CV3124951 | duplication | NM_000126.4(ETFA):c.40-21_40-19dup | Multiple acyl-CoA dehydrogenase deficiency [RCV003818222] | likely benign | 15 | 76295755 | 76295756 | Human | 1 | name |
| 405242884 | CV3164655 | duplication | NM_000126.4(ETFA):c.40-21_40-18dup | Multiple acyl-CoA dehydrogenase deficiency [RCV003867736] | likely benign | 15 | 76295754 | 76295755 | Human | 1 | name |
| 127231107 | CV1081357 | single nucleotide variant | NM_000126.4(ETFA):c.24G>A (p.Gly8=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001395128] | likely benign | 15 | 76311365 | 76311365 | Human | 1 | name |
| 152167176 | CV1524580 | single nucleotide variant | NM_000126.4(ETFA):c.21G>A (p.Pro7=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002142094] | likely benign | 15 | 76311368 | 76311368 | Human | 1 | name |
| 152152854 | CV1529752 | single nucleotide variant | NM_000126.4(ETFA):c.24G>C (p.Gly8=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002202245] | likely benign | 15 | 76311365 | 76311365 | Human | 1 | name |
| 152079157 | CV1596732 | single nucleotide variant | NM_000126.4(ETFA):c.15G>A (p.Ala5=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002092618] | likely benign | 15 | 76311374 | 76311374 | Human | 1 | name |
| 13530826 | CV505812 | single nucleotide variant | NM_000126.4(ETFA):c.21G>C (p.Pro7=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001505081]|not specified [RCV000606269] | likely benign | 15 | 76311368 | 76311368 | Human | 1 | name |
| 150417338 | CV1198683 | deletion | NM_000126.4(ETFA):c.562+31_562+34del | not provided [RCV001576254] | likely benign | 15 | 76286337 | 76286340 | Human | | name |
| 151808478 | CV1362771 | single nucleotide variant | NM_000126.4(ETFA):c.8G>C (p.Arg3Pro) | Multiple acyl-CoA dehydrogenase deficiency [RCV001991598] | uncertain significance | 15 | 76311381 | 76311381 | Human | 1 | name |
| 152161078 | CV1530993 | single nucleotide variant | NM_000126.4(ETFA):c.30C>G (p.Leu10=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002123203] | likely benign | 15 | 76311359 | 76311359 | Human | 1 | name |
| 152151001 | CV1598205 | single nucleotide variant | NM_000126.4(ETFA):c.54A>G (p.Arg18=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002121738] | likely benign | 15 | 76295723 | 76295723 | Human | 1 | name |
| 152128930 | CV1637388 | deletion | NM_000126.4(ETFA):c.451+14_451+17del | Multiple acyl-CoA dehydrogenase deficiency [RCV002217797] | likely benign | 15 | 76287829 | 76287832 | Human | 1 | name |
| 9692911 | CV177021 | single nucleotide variant | NM_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 significance | 15 | 76311387 | 76311387 | Human | 1 | name |
| 156233412 | CV1885296 | single nucleotide variant | NM_000126.4(ETFA):c.84T>C (p.His28=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003085459] | likely benign | 15 | 76295693 | 76295693 | Human | 1 | name |
| 402479559 | CV3009945 | single nucleotide variant | NM_000126.4(ETFA):c.33G>C (p.Arg11=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625872] | likely benign | 15 | 76311356 | 76311356 | Human | 1 | name |
| 402471662 | CV3057286 | microsatellite | NM_000126.4(ETFA):c.817-12_817-11del | Multiple acyl-CoA dehydrogenase deficiency [RCV003624301] | likely benign | 15 | 76231409 | 76231410 | Human | | name |
| 402471981 | CV3069582 | single nucleotide variant | NM_000126.4(ETFA):c.81G>A (p.Glu27=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624400] | likely benign | 15 | 76295696 | 76295696 | Human | 1 | name |
| 402474314 | CV3070760 | deletion | NM_000126.4(ETFA):c.883-17_883-16del | Multiple acyl-CoA dehydrogenase deficiency [RCV003624972] | likely benign | 15 | 76225945 | 76225946 | Human | 1 | name |
| 405093375 | CV3134638 | single nucleotide variant | NM_000126.4(ETFA):c.99A>G (p.Leu33=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003834984] | likely benign | 15 | 76295678 | 76295678 | Human | 1 | name |
| 405038705 | CV3140931 | single nucleotide variant | NM_000126.4(ETFA):c.51A>G (p.Leu17=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003831224] | likely benign | 15 | 76295726 | 76295726 | Human | 1 | name |
| 402488305 | CV3181978 | single nucleotide variant | NM_000126.4(ETFA):c.69G>A (p.Leu23=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003876647] | likely benign | 15 | 76295708 | 76295708 | Human | 1 | name |
| 597632659 | CV3704334 | single nucleotide variant | NM_000126.4(ETFA):c.1A>G (p.Met1Val) | Multiple acyl-CoA dehydrogenase deficiency [RCV005003211] | pathogenic | 15 | 76311388 | 76311388 | Human | 1 | name |
| 13491140 | CV465316 | single nucleotide variant | NM_000126.4(ETFA):c.30C>T (p.Leu10=) | Multiple acyl-CoA dehydrogenase deficiency [RCV000534010] | likely benign | 15 | 76311359 | 76311359 | Human | 1 | name |
| 14710218 | CV667945 | deletion | NM_000126.4(ETFA):c.40-269_40-266del | not provided [RCV000844005] | benign | 15 | 76296003 | 76296006 | Human | | name |
| 21068972 | CV788891 | single nucleotide variant | NM_000126.4(ETFA):c.7C>T (p.Arg3Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV000985194] | likely pathogenic | 15 | 76311382 | 76311382 | Human | 1 | name |
| 28882234 | CV874190 | single nucleotide variant | NM_000126.4(ETFA):c.78T>C (p.Ala26=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001118070] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 76295699 | 76295699 | Human | 1 | name |
| 28882240 | CV874191 | single nucleotide variant | NM_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 significance | 15 | 76295711 | 76295711 | Human | 1 | name , trait , alternate_id |
| 40905152 | CV979678 | single nucleotide variant | NM_000126.4(ETFA):c.39G>A (p.Ala13=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001278287] | uncertain significance | 15 | 76311350 | 76311350 | Human | 1 | name |
| 40905153 | CV979679 | single nucleotide variant | NM_000126.4(ETFA):c.36G>A (p.Arg12=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001278288] | likely benign|uncertain significance | 15 | 76311353 | 76311353 | Human | 1 | name |
| 127272785 | CV1081351 | single nucleotide variant | NM_000126.4(ETFA):c.283T>C (p.Leu95=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001405803] | likely benign | 15 | 76292499 | 76292499 | Human | 1 | name |
| 127266889 | CV1081352 | single nucleotide variant | NM_000126.4(ETFA):c.264T>G (p.Leu88=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001403966] | likely benign | 15 | 76292623 | 76292623 | Human | 1 | name |
| 127258894 | CV1081353 | single nucleotide variant | NM_000126.4(ETFA):c.240G>A (p.Gln80=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001401778] | likely benign | 15 | 76292647 | 76292647 | Human | 1 | name |
| 127274193 | CV1081354 | single nucleotide variant | NM_000126.4(ETFA):c.201C>G (p.Leu67=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001406265] | likely benign | 15 | 76292686 | 76292686 | Human | 1 | name |
| 127231118 | CV1081355 | single nucleotide variant | NM_000126.4(ETFA):c.165A>G (p.Val55=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001395133] | likely benign | 15 | 76295612 | 76295612 | Human | 1 | name |
| 127246959 | CV1103157 | single nucleotide variant | NM_000126.4(ETFA):c.294A>C (p.Ala98=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001424599] | likely benign | 15 | 76292488 | 76292488 | Human | 1 | name |
| 127288144 | CV1124595 | single nucleotide variant | NM_000126.4(ETFA):c.189G>A (p.Val63=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001450380] | likely benign | 15 | 76292698 | 76292698 | Human | 1 | name |
| 127307424 | CV1124597 | single nucleotide variant | NM_000126.4(ETFA):c.156C>T (p.Ser52=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001455785] | likely benign | 15 | 76295621 | 76295621 | Human | 1 | name |
| 127312671 | CV1145448 | single nucleotide variant | NM_000126.4(ETFA):c.273A>G (p.Glu91=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001481733] | likely benign | 15 | 76292509 | 76292509 | Human | 1 | name |
| 127290293 | CV1145450 | single nucleotide variant | NM_000126.4(ETFA):c.228T>C (p.Val76=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001495933] | likely benign | 15 | 76292659 | 76292659 | Human | 1 | name |
| 127325399 | CV1145451 | single nucleotide variant | NM_000126.4(ETFA):c.222A>G (p.Ala74=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001506009] | likely benign | 15 | 76292665 | 76292665 | Human | 1 | name |
| 127305665 | CV1145452 | single nucleotide variant | NM_000126.4(ETFA):c.183C>T (p.Asp61=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001479813] | likely benign | 15 | 76295594 | 76295594 | Human | 1 | name |
| 127314112 | CV1145453 | single nucleotide variant | NM_000126.4(ETFA):c.153G>A (p.Val51=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001482146] | likely benign | 15 | 76295624 | 76295624 | Human | 1 | name |
| 127335500 | CV1145454 | single nucleotide variant | NM_000126.4(ETFA):c.141T>G (p.Leu47=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001491571] | likely benign | 15 | 76295636 | 76295636 | Human | 1 | name |
| 151745114 | CV1473438 | single nucleotide variant | NM_000126.4(ETFA):c.11C>T (p.Ala4Val) | Multiple acyl-CoA dehydrogenase deficiency [RCV001912328] | uncertain significance | 15 | 76311378 | 76311378 | Human | 1 | name |
| 152168528 | CV1558789 | single nucleotide variant | NM_000126.4(ETFA):c.264T>A (p.Leu88=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002142479] | likely benign | 15 | 76292623 | 76292623 | Human | 1 | name |
| 152106072 | CV1560021 | single nucleotide variant | NM_000126.4(ETFA):c.297T>C (p.Thr99=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002133867] | likely benign | 15 | 76292485 | 76292485 | Human | 1 | name |
| 152176578 | CV1631593 | single nucleotide variant | NM_000126.4(ETFA):c.210A>G (p.Val70=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002164724] | likely benign | 15 | 76292677 | 76292677 | Human | 1 | name |
| 153302394 | CV1688208 | single nucleotide variant | NM_000126.4(ETFA):c.26A>G (p.Gln9Arg) | Inborn genetic diseases [RCV004047441]|not provided [RCV002265434] | uncertain significance | 15 | 76311363 | 76311363 | Human | 1 | name |
| 10056189 | CV200299 | single nucleotide variant | NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV000702647]|not provided [RCV002292481] | likely benign|uncertain significance | 15 | 76311369 | 76311369 | Human | 1 | name |
| 155913600 | CV2065973 | single nucleotide variant | NM_000126.4(ETFA):c.210A>T (p.Val70=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002837893] | likely benign | 15 | 76292677 | 76292677 | Human | 1 | name |
| 156134490 | CV2085741 | single nucleotide variant | NM_000126.4(ETFA):c.120C>T (p.Thr40=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002871756] | likely benign | 15 | 76295657 | 76295657 | Human | 1 | name |
| 404993851 | CV2879295 | single nucleotide variant | NM_000126.4(ETFA):c.288T>C (p.Ile96=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003513132] | likely benign | 15 | 76292494 | 76292494 | Human | 1 | name |
| 404984157 | CV2910764 | single nucleotide variant | NM_000126.4(ETFA):c.282A>G (p.Pro94=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003511971] | likely benign | 15 | 76292500 | 76292500 | Human | 1 | name |
| 404981908 | CV2912510 | single nucleotide variant | NM_000126.4(ETFA):c.213A>G (p.Ala71=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003511676] | likely benign | 15 | 76292674 | 76292674 | Human | 1 | name |
| 404982460 | CV2915888 | single nucleotide variant | NM_000126.4(ETFA):c.297T>G (p.Thr99=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003511759] | likely benign | 15 | 76292485 | 76292485 | Human | 1 | name |
| 402472930 | CV2948454 | duplication | NM_000126.4(ETFA):c.37dup (p.Ala13fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624646] | pathogenic | 15 | 76311351 | 76311352 | Human | 1 | name |
| 402473749 | CV2970359 | single nucleotide variant | NM_000126.4(ETFA):c.126T>G (p.Thr42=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624858] | likely benign | 15 | 76295651 | 76295651 | Human | 1 | name |
| 405165641 | CV3125612 | single nucleotide variant | NM_000126.4(ETFA):c.261A>G (p.Leu87=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003818695] | likely benign | 15 | 76292626 | 76292626 | Human | 1 | name |
| 597954140 | CV3786624 | single nucleotide variant | NM_000126.4(ETFA):c.276G>A (p.Leu92=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005121715] | likely benign | 15 | 76292506 | 76292506 | Human | 1 | name |
| 127280224 | CV1081345 | single nucleotide variant | NM_000126.4(ETFA):c.837A>C (p.Gly279=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001409660] | likely benign | 15 | 76231378 | 76231378 | Human | 1 | name |
| 127236735 | CV1081346 | single nucleotide variant | NM_000126.4(ETFA):c.765C>A (p.Gly255=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001396954] | likely benign | 15 | 76274463 | 76274463 | Human | 1 | name |
| 127253211 | CV1081347 | single nucleotide variant | NM_000126.4(ETFA):c.723A>G (p.Leu241=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001400483] | likely benign | 15 | 76283767 | 76283767 | Human | 1 | name |
| 127248653 | CV1081348 | single nucleotide variant | NM_000126.4(ETFA):c.423T>C (p.Pro141=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001417189] | likely benign | 15 | 76287874 | 76287874 | Human | 1 | name |
| 127256761 | CV1081349 | single nucleotide variant | NM_000126.4(ETFA):c.393G>A (p.Pro131=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001419113]|not provided [RCV005428241] | likely benign | 15 | 76287904 | 76287904 | Human | 1 | name |
| 127260801 | CV1103150 | single nucleotide variant | NM_000126.4(ETFA):c.981T>G (p.Thr327=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001438689] | likely benign | 15 | 76216580 | 76216580 | Human | 1 | name |
| 127241026 | CV1103153 | single nucleotide variant | NM_000126.4(ETFA):c.591A>C (p.Ser197=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001434339] | likely benign | 15 | 76285710 | 76285710 | Human | 1 | name |
| 127272086 | CV1103154 | single nucleotide variant | NM_000126.4(ETFA):c.558A>G (p.Glu186=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001442037] | likely benign | 15 | 76286375 | 76286375 | Human | 1 | name |
| 127242950 | CV1103156 | single nucleotide variant | NM_000126.4(ETFA):c.345C>T (p.Phe115=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001434740] | likely benign | 15 | 76292437 | 76292437 | Human | 1 | name |
| 127333839 | CV1124589 | single nucleotide variant | NM_000126.4(ETFA):c.891G>C (p.Val297=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001473160] | likely benign | 15 | 76225921 | 76225921 | Human | 1 | name |
| 127300385 | CV1124591 | single nucleotide variant | NM_000126.4(ETFA):c.813A>C (p.Ala271=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001461088] | likely benign | 15 | 76274415 | 76274415 | Human | 1 | name |
| 127303758 | CV1124592 | single nucleotide variant | NM_000126.4(ETFA):c.564A>G (p.Ala188=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001462006] | likely benign | 15 | 76285737 | 76285737 | Human | 1 | name |
| 127301267 | CV1124593 | single nucleotide variant | NM_000126.4(ETFA):c.540C>G (p.Gly180=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001454088]|not provided [RCV001619907] | likely benign | 15 | 76286393 | 76286393 | Human | 1 | name |
| 127297030 | CV1124594 | single nucleotide variant | NM_000126.4(ETFA):c.358T>C (p.Leu120=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001477514] | likely benign | 15 | 76287939 | 76287939 | Human | 1 | name |
| 127328771 | CV1145441 | single nucleotide variant | NM_000126.4(ETFA):c.822T>C (p.Leu274=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001486957] | likely benign | 15 | 76231393 | 76231393 | Human | 1 | name |
| 127286607 | CV1145442 | single nucleotide variant | NM_000126.4(ETFA):c.667C>A (p.Arg223=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001494462] | likely benign | 15 | 76283823 | 76283823 | Human | 1 | name |
| 127303338 | CV1145443 | single nucleotide variant | NM_000126.4(ETFA):c.579A>G (p.Pro193=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001499373] | likely benign | 15 | 76285722 | 76285722 | Human | 1 | name |
| 127323763 | CV1145445 | single nucleotide variant | NM_000126.4(ETFA):c.540C>T (p.Gly180=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001485315] | likely benign | 15 | 76286393 | 76286393 | Human | 1 | name |
| 127333547 | CV1145446 | single nucleotide variant | NM_000126.4(ETFA):c.435G>A (p.Val145=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001490258] | likely benign | 15 | 76287862 | 76287862 | Human | 1 | name |
| 127302027 | CV1145447 | single nucleotide variant | NM_000126.4(ETFA):c.354C>T (p.Asn118=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001478848] | likely benign | 15 | 76287943 | 76287943 | Human | 1 | name |
| 150459710 | CV1202961 | deletion | NM_000126.4(ETFA):c.817-144_817-141del | not provided [RCV001586614] | likely benign | 15 | 76231539 | 76231542 | Human | | name |
| 150479058 | CV1207773 | duplication | NM_000126.4(ETFA):c.964-266_964-262dup | not provided [RCV001590049] | likely benign | 15 | 76216840 | 76216841 | Human | | name |
| 150508958 | CV1214177 | duplication | NM_000126.4(ETFA):c.964-266_964-263dup | not provided [RCV001596698] | benign | 15 | 76216840 | 76216841 | Human | | name |
| 150442625 | CV1233730 | duplication | NM_000126.4(ETFA):c.964-266_964-265dup | not provided [RCV001645418] | benign | 15 | 76216840 | 76216841 | Human | | name |
| 150502703 | CV1241626 | duplication | NM_000126.4(ETFA):c.964-266_964-264dup | not provided [RCV001657217] | benign | 15 | 76216840 | 76216841 | Human | | name |
| 150540495 | CV1314620 | duplication | NM_000126.4(ETFA):c.290dup (p.Leu97fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV001781053] | likely pathogenic | 15 | 76292491 | 76292492 | Human | | name |
| 151810766 | CV1350283 | single nucleotide variant | NM_000126.4(ETFA):c.77C>T (p.Ala26Val) | Multiple acyl-CoA dehydrogenase deficiency [RCV002048833] | uncertain significance | 15 | 76295700 | 76295700 | Human | 1 | name |
| 151763288 | CV1384355 | deletion | NM_000126.4(ETFA):c.285del (p.Ile96fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV001987524] | pathogenic | 15 | 76292497 | 76292497 | Human | 1 | name |
| 151847816 | CV1433292 | single nucleotide variant | NM_000126.4(ETFA):c.88A>G (p.Asn30Asp) | Multiple acyl-CoA dehydrogenase deficiency [RCV001978524] | uncertain significance | 15 | 76295689 | 76295689 | Human | 1 | name |
| 151781659 | CV1458348 | single nucleotide variant | NM_000126.4(ETFA):c.44C>A (p.Ser15Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV001951135] | pathogenic | 15 | 76295733 | 76295733 | Human | 1 | name |
| 151807993 | CV1462818 | single nucleotide variant | NM_000126.4(ETFA):c.79G>A (p.Glu27Lys) | Multiple acyl-CoA dehydrogenase deficiency [RCV001991552] | uncertain significance | 15 | 76295698 | 76295698 | Human | 1 | name |
| 152118028 | CV1534844 | single nucleotide variant | NM_000126.4(ETFA):c.468A>C (p.Thr156=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002153896] | likely benign | 15 | 76286465 | 76286465 | Human | 1 | name |
| 152092681 | CV1545114 | single nucleotide variant | NM_000126.4(ETFA):c.945A>C (p.Ile315=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002172035] | likely benign | 15 | 76225867 | 76225867 | Human | 1 | name |
| 152120353 | CV1547373 | single nucleotide variant | NM_000126.4(ETFA):c.456T>C (p.Asn152=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002081466] | likely benign | 15 | 76286477 | 76286477 | Human | 1 | name |
| 152136502 | CV1555463 | single nucleotide variant | NM_000126.4(ETFA):c.771T>G (p.Val257=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002119776] | likely benign | 15 | 76274457 | 76274457 | Human | 1 | name |
| 152060403 | CV1559193 | single nucleotide variant | NM_000126.4(ETFA):c.441T>A (p.Thr147=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002167932] | likely benign | 15 | 76287856 | 76287856 | Human | 1 | name |
| 152119730 | CV1579197 | single nucleotide variant | NM_000126.4(ETFA):c.942A>C (p.Gly314=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002081386] | likely benign | 15 | 76225870 | 76225870 | Human | 1 | name |
| 152130067 | CV1584417 | single nucleotide variant | NM_000126.4(ETFA):c.909A>G (p.Pro303=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002082743] | likely benign | 15 | 76225903 | 76225903 | Human | 1 | name |
| 152161017 | CV1598832 | single nucleotide variant | NM_000126.4(ETFA):c.462A>C (p.Leu154=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002140921] | likely benign | 15 | 76286471 | 76286471 | Human | 1 | name |
| 152163645 | CV1600932 | single nucleotide variant | NM_000126.4(ETFA):c.489G>C (p.Val163=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002141361] | likely benign | 15 | 76286444 | 76286444 | Human | 1 | name |
| 152095009 | CV1603803 | single nucleotide variant | NM_000126.4(ETFA):c.822T>A (p.Leu274=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002213239] | likely benign | 15 | 76231393 | 76231393 | Human | 1 | name |
| 152037041 | CV1605498 | single nucleotide variant | NM_000126.4(ETFA):c.324C>A (p.Ile108=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002087390] | likely benign | 15 | 76292458 | 76292458 | Human | 1 | name |
| 152099880 | CV1610740 | single nucleotide variant | NM_000126.4(ETFA):c.831T>C (p.Ala277=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002133135] | likely benign | 15 | 76231384 | 76231384 | Human | 1 | name |
| 152041741 | CV1617934 | single nucleotide variant | NM_000126.4(ETFA):c.951A>G (p.Ala317=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002206434] | likely benign | 15 | 76225861 | 76225861 | Human | 1 | name |
| 152114008 | CV1624036 | single nucleotide variant | NM_000126.4(ETFA):c.348A>G (p.Gly116=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002134858] | likely benign | 15 | 76292434 | 76292434 | Human | 1 | name |
| 152048879 | CV1633589 | single nucleotide variant | NM_000126.4(ETFA):c.654G>A (p.Val218=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002126984] | likely benign | 15 | 76285647 | 76285647 | Human | 1 | name |
| 152041071 | CV1649310 | single nucleotide variant | NM_000126.4(ETFA):c.678G>A (p.Lys226=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002206351] | likely benign | 15 | 76283812 | 76283812 | Human | 1 | name |
| 152147578 | CV1656174 | single nucleotide variant | NM_000126.4(ETFA):c.429A>C (p.Thr143=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002220288] | likely benign | 15 | 76287868 | 76287868 | Human | 1 | name |
| 152126093 | CV1665878 | single nucleotide variant | NM_000126.4(ETFA):c.972T>C (p.Pro324=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002198691] | likely benign | 15 | 76216589 | 76216589 | Human | 1 | name |
| 156382434 | CV1870386 | single nucleotide variant | NM_000126.4(ETFA):c.700T>C (p.Leu234=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003067280] | likely benign | 15 | 76283790 | 76283790 | Human | 1 | name |
| 155957868 | CV1873461 | single nucleotide variant | NM_000126.4(ETFA):c.786A>G (p.Gln262=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003074519] | likely benign | 15 | 76274442 | 76274442 | Human | 1 | name |
| 156377790 | CV1876569 | single nucleotide variant | NM_000126.4(ETFA):c.32G>A (p.Arg11Gln) | Multiple acyl-CoA dehydrogenase deficiency [RCV003066888] | uncertain significance | 15 | 76311357 | 76311357 | Human | 1 | name |
| 156090978 | CV1895533 | single nucleotide variant | NM_000126.4(ETFA):c.955T>C (p.Leu319=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003080214] | likely benign | 15 | 76225857 | 76225857 | Human | 1 | name |
| 156263970 | CV1910073 | single nucleotide variant | NM_000126.4(ETFA):c.363C>T (p.Pro121=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002627861] | likely benign | 15 | 76287934 | 76287934 | Human | 1 | name |
| 156416996 | CV1919198 | single nucleotide variant | NM_000126.4(ETFA):c.53G>A (p.Arg18Gln) | Multiple acyl-CoA dehydrogenase deficiency [RCV002610473] | uncertain significance | 15 | 76295724 | 76295724 | Human | 1 | name |
| 156298899 | CV1919844 | single nucleotide variant | NM_000126.4(ETFA):c.471G>A (p.Val157=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002599073] | likely benign | 15 | 76286462 | 76286462 | Human | 1 | name |
| 156106612 | CV2008411 | single nucleotide variant | NM_000126.4(ETFA):c.384G>A (p.Glu128=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002695503] | likely benign | 15 | 76287913 | 76287913 | Human | 1 | name |
| 156324966 | CV2032392 | single nucleotide variant | NM_000126.4(ETFA):c.819A>G (p.Glu273=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002717351] | likely benign | 15 | 76231396 | 76231396 | Human | 1 | name |
| 156344837 | CV2051792 | single nucleotide variant | NM_000126.4(ETFA):c.372A>C (p.Ala124=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002811402] | likely benign | 15 | 76287925 | 76287925 | Human | 1 | name |
| 155934233 | CV2064299 | single nucleotide variant | NM_000126.4(ETFA):c.369A>T (p.Val123=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002861320] | likely benign | 15 | 76287928 | 76287928 | Human | 1 | name |
| 156352785 | CV2065969 | single nucleotide variant | NM_000126.4(ETFA):c.939T>C (p.Tyr313=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002811908] | likely benign | 15 | 76225873 | 76225873 | Human | 1 | name |
| 156321762 | CV2067625 | single nucleotide variant | NM_000126.4(ETFA):c.780C>T (p.Asp260=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002834747] | likely benign | 15 | 76274448 | 76274448 | Human | 1 | name |
| 155944421 | CV2072485 | single nucleotide variant | NM_000126.4(ETFA):c.513A>G (p.Thr171=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002861981] | likely benign | 15 | 76286420 | 76286420 | Human | 1 | name |
| 155913910 | CV2077817 | single nucleotide variant | NM_000126.4(ETFA):c.429A>G (p.Thr143=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002858691] | likely benign | 15 | 76287868 | 76287868 | Human | 1 | name |
| 156016141 | CV2087203 | single nucleotide variant | NM_000126.4(ETFA):c.438A>G (p.Arg146=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002866366] | likely benign | 15 | 76287859 | 76287859 | Human | 1 | name |
| 156368518 | CV2113298 | duplication | NM_000126.4(ETFA):c.284dup (p.Leu95fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV002942141] | pathogenic|likely pathogenic | 15 | 76292497 | 76292498 | Human | 1 | name |
| 155935657 | CV2138808 | single nucleotide variant | NM_000126.4(ETFA):c.960T>C (p.Phe320=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002993700] | likely benign | 15 | 76225852 | 76225852 | Human | 1 | name |
| 155945352 | CV2154700 | single nucleotide variant | NM_000126.4(ETFA):c.810A>G (p.Val270=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003014526] | likely benign | 15 | 76274418 | 76274418 | Human | 1 | name |
| 156219122 | CV2172056 | single nucleotide variant | NM_000126.4(ETFA):c.603C>T (p.Asp201=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003042646] | likely benign | 15 | 76285698 | 76285698 | Human | 1 | name |
| 156332696 | CV2181777 | single nucleotide variant | NM_000126.4(ETFA):c.495G>A (p.Val165=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003047311] | likely benign | 15 | 76286438 | 76286438 | Human | 1 | name |
| 401949727 | CV2834347 | deletion | NM_000126.4(ETFA):c.226del (p.Val76fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003475598] | likely pathogenic | 15 | 76292661 | 76292661 | Human | 1 | name |
| 401949735 | CV2834355 | deletion | NM_000126.4(ETFA):c.266del (p.Pro89fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003475606] | likely pathogenic | 15 | 76292621 | 76292621 | Human | 1 | name |
| 404991609 | CV2859987 | single nucleotide variant | NM_000126.4(ETFA):c.721C>T (p.Leu241=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003512875] | likely benign | 15 | 76283769 | 76283769 | Human | 1 | name |
| 404991020 | CV2862479 | single nucleotide variant | NM_000126.4(ETFA):c.390C>T (p.Ala130=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003512818] | likely benign | 15 | 76287907 | 76287907 | Human | 1 | name |
| 404993055 | CV2867799 | single nucleotide variant | NM_000126.4(ETFA):c.750T>C (p.Ala250=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003513063] | likely benign | 15 | 76274478 | 76274478 | Human | 1 | name |
| 404994345 | CV2876639 | single nucleotide variant | NM_000126.4(ETFA):c.660T>C (p.Ser220=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003513208] | likely benign | 15 | 76285641 | 76285641 | Human | 1 | name |
| 404987958 | CV2911440 | single nucleotide variant | NM_000126.4(ETFA):c.630A>G (p.Pro210=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003512503] | likely benign | 15 | 76285671 | 76285671 | Human | 1 | name |
| 402472721 | CV2937794 | single nucleotide variant | NM_000126.4(ETFA):c.696G>A (p.Lys232=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624598] | likely benign | 15 | 76283794 | 76283794 | Human | 1 | name |
| 402473281 | CV2957576 | single nucleotide variant | NM_000126.4(ETFA):c.462A>G (p.Leu154=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624728] | likely benign | 15 | 76286471 | 76286471 | Human | 1 | name |
| 402475738 | CV2973534 | single nucleotide variant | NM_000126.4(ETFA):c.657A>G (p.Val219=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625242] | likely benign | 15 | 76285644 | 76285644 | Human | 1 | name |
| 402477406 | CV2995224 | single nucleotide variant | NM_000126.4(ETFA):c.426C>T (p.Asp142=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625555] | likely benign | 15 | 76287871 | 76287871 | Human | 1 | name |
| 402477338 | CV3001494 | single nucleotide variant | NM_000126.4(ETFA):c.927A>G (p.Gln309=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625545] | likely benign | 15 | 76225885 | 76225885 | Human | 1 | name |
| 402478480 | CV3008099 | deletion | NM_000126.4(ETFA):c.177del (p.Lys59fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625735] | pathogenic|likely pathogenic | 15 | 76295600 | 76295600 | Human | 1 | name |
| 402479892 | CV3010827 | single nucleotide variant | NM_000126.4(ETFA):c.687G>A (p.Glu229=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625938] | likely benign | 15 | 76283803 | 76283803 | Human | 1 | name |
| 402470424 | CV3034822 | single nucleotide variant | NM_000126.4(ETFA):c.864T>G (p.Ala288=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003623972] | likely benign | 15 | 76231351 | 76231351 | Human | 1 | name |
| 402470754 | CV3042408 | single nucleotide variant | NM_000126.4(ETFA):c.303G>A (p.Lys101=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624060] | likely benign | 15 | 76292479 | 76292479 | Human | 1 | name |
| 402474426 | CV3073993 | single nucleotide variant | NM_000126.4(ETFA):c.594G>A (p.Glu198=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624993] | likely benign | 15 | 76285707 | 76285707 | Human | 1 | name |
| 402474997 | CV3077770 | single nucleotide variant | NM_000126.4(ETFA):c.549C>T (p.Ala183=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625100] | likely benign | 15 | 76286384 | 76286384 | Human | 1 | name |
| 405168173 | CV3156891 | single nucleotide variant | NM_000126.4(ETFA):c.867G>A (p.Gly289=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003857595] | likely benign | 15 | 76231348 | 76231348 | Human | 1 | name |
| 407499153 | CV3438389 | single nucleotide variant | NM_000126.4(ETFA):c.83A>G (p.His28Arg) | Inborn genetic diseases [RCV004622709] | uncertain significance | 15 | 76295694 | 76295694 | Human | 1 | name |
| 597921050 | CV3765211 | single nucleotide variant | NM_000126.4(ETFA):c.336A>G (p.Ala112=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005115228] | likely benign | 15 | 76292446 | 76292446 | Human | 1 | name |
| 597943103 | CV3816388 | single nucleotide variant | NM_000126.4(ETFA):c.381T>G (p.Leu127=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005159449] | likely benign | 15 | 76287916 | 76287916 | Human | 1 | name |
| 13446001 | CV437989 | single nucleotide variant | NM_000126.4(ETFA):c.37G>A (p.Ala13Thr) | not provided [RCV000513143] | uncertain significance | 15 | 76311352 | 76311352 | Human | | name |
| 14709766 | CV643551 | single nucleotide variant | NM_000126.4(ETFA):c.81G>C (p.Glu27Asp) | Multiple acyl-CoA dehydrogenase deficiency [RCV000809428] | uncertain significance | 15 | 76295696 | 76295696 | Human | 1 | name |
| 14744557 | CV643552 | single nucleotide variant | NM_000126.4(ETFA):c.63T>G (p.Ser21Arg) | Multiple acyl-CoA dehydrogenase deficiency [RCV000824188] | uncertain significance | 15 | 76295714 | 76295714 | Human | 1 | name |
| 14745342 | CV643553 | single nucleotide variant | NM_000126.4(ETFA):c.52C>T (p.Arg18Ter) | Inborn genetic diseases [RCV002538204]|Multiple acyl-CoA dehydrogenase deficiency [RCV000824641]|not provided [RCV001564261] | pathogenic|likely pathogenic | 15 | 76295725 | 76295725 | Human | 2 | name |
| 15179080 | CV714618 | single nucleotide variant | NM_000126.4(ETFA):c.702A>G (p.Leu234=) | Glutaric acidemia type 2A [RCV001827061]|Multiple acyl-CoA dehydrogenase deficiency [RCV000973823] | likely benign | 15 | 76283788 | 76283788 | Human | 2 | name |
| 15124534 | CV754689 | single nucleotide variant | NM_000126.4(ETFA):c.988T>C (p.Leu330=) | not provided [RCV000919001] | likely benign | 15 | 76216573 | 76216573 | Human | | name |
| 15171496 | CV770349 | single nucleotide variant | NM_000126.4(ETFA):c.798G>A (p.Thr266=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001398033] | likely benign | 15 | 76274430 | 76274430 | Human | 1 | name |
| 15121927 | CV785025 | single nucleotide variant | NM_000126.4(ETFA):c.837A>G (p.Gly279=) | Multiple acyl-CoA dehydrogenase deficiency [RCV000979557] | likely benign | 15 | 76231378 | 76231378 | Human | 1 | name |
| 15143233 | CV785026 | single nucleotide variant | NM_000126.4(ETFA):c.759T>C (p.Asp253=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001277757] | likely benign|uncertain significance | 15 | 76274469 | 76274469 | Human | 1 | name |
| 15136878 | CV785027 | single nucleotide variant | NM_000126.4(ETFA):c.720A>G (p.Gln240=) | Multiple acyl-CoA dehydrogenase deficiency [RCV000982193] | likely benign|conflicting interpretations of pathogenicity | 15 | 76283770 | 76283770 | Human | 1 | name |
| 15121461 | CV785028 | single nucleotide variant | NM_000126.4(ETFA):c.342C>T (p.Ala114=) | Multiple acyl-CoA dehydrogenase deficiency [RCV000979472] | likely benign | 15 | 76292440 | 76292440 | Human | 1 | name |
| 28882223 | CV874189 | single nucleotide variant | NM_000126.4(ETFA):c.366A>G (p.Arg122=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001118067] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 76287931 | 76287931 | Human | 1 | name |
| 40904714 | CV979674 | single nucleotide variant | NM_000126.4(ETFA):c.321C>T (p.His107=) | ETFA-related disorder [RCV003898256]|Multiple acyl-CoA dehydrogenase deficiency [RCV001277760] | likely benign|uncertain significance | 15 | 76292461 | 76292461 | Human | 1 | name , trait , alternate_id |
| 126736452 | CV1011623 | single nucleotide variant | NM_000126.4(ETFA):c.265C>T (p.Pro89Ser) | Multiple acyl-CoA dehydrogenase deficiency [RCV001313856] | uncertain significance | 15 | 76292622 | 76292622 | Human | 1 | name |
| 126746062 | CV1017982 | single nucleotide variant | NM_000126.4(ETFA):c.173C>G (p.Thr58Ser) | Multiple acyl-CoA dehydrogenase deficiency [RCV001330795] | uncertain significance | 15 | 76295604 | 76295604 | Human | 1 | name |
| 127271844 | CV1063424 | deletion | NM_000126.4(ETFA):c.478del (p.Asp160fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV001390288] | pathogenic | 15 | 76286455 | 76286455 | Human | 1 | name |
| 151862608 | CV1338755 | single nucleotide variant | NM_000126.4(ETFA):c.148G>A (p.Glu50Lys) | Inborn genetic diseases [RCV003348679]|Multiple acyl-CoA dehydrogenase deficiency [RCV001997329] | uncertain significance | 15 | 76295629 | 76295629 | Human | 2 | name |
| 151788526 | CV1387059 | single nucleotide variant | NM_000126.4(ETFA):c.263T>C (p.Leu88Pro) | Inborn genetic diseases [RCV005331022]|Multiple acyl-CoA dehydrogenase deficiency [RCV001931176] | uncertain significance | 15 | 76292624 | 76292624 | Human | 2 | name |
| 151820444 | CV1416166 | duplication | NM_000126.4(ETFA):c.427dup (p.Thr143fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV001919517] | pathogenic | 15 | 76287869 | 76287870 | Human | 1 | name |
| 151875165 | CV1476122 | single nucleotide variant | NM_000126.4(ETFA):c.163G>A (p.Val55Ile) | Multiple acyl-CoA dehydrogenase deficiency [RCV002019449] | uncertain significance | 15 | 76295614 | 76295614 | Human | 1 | name |
| 156078755 | CV1886677 | single nucleotide variant | NM_000126.4(ETFA):c.136C>T (p.Arg46Cys) | Multiple acyl-CoA dehydrogenase deficiency [RCV003079793] | uncertain significance | 15 | 76295641 | 76295641 | Human | 1 | name |
| 156059321 | CV1928977 | single nucleotide variant | NM_000126.4(ETFA):c.245A>T (p.Asp82Val) | Multiple acyl-CoA dehydrogenase deficiency [RCV002620893] | uncertain significance | 15 | 76292642 | 76292642 | Human | 1 | name |
| 156312127 | CV1934497 | single nucleotide variant | NM_000126.4(ETFA):c.295A>G (p.Thr99Ala) | Multiple acyl-CoA dehydrogenase deficiency [RCV002629837] | uncertain significance | 15 | 76292487 | 76292487 | Human | 1 | name |
| 10056190 | CV200297 | single nucleotide variant | NM_000126.4(ETFA):c.215G>A (p.Gly72Asp) | Inborn genetic diseases [RCV002516966]|Multiple acyl-CoA dehydrogenase deficiency [RCV001241625]|not provided [RCV000185866] | uncertain significance | 15 | 76292672 | 76292672 | Human | 2 | name |
| 155907446 | CV2027708 | single nucleotide variant | NM_000126.4(ETFA):c.178T>G (p.Cys60Gly) | Multiple acyl-CoA dehydrogenase deficiency [RCV002726560] | uncertain significance | 15 | 76295599 | 76295599 | Human | 1 | name |
| 155952935 | CV2073226 | duplication | NM_000126.4(ETFA):c.461dup (p.Cys155fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV002816367] | pathogenic | 15 | 76286471 | 76286472 | Human | 1 | name |
| 156046280 | CV2093300 | duplication | NM_000126.4(ETFA):c.369dup (p.Ala124fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV002867627] | pathogenic | 15 | 76287927 | 76287928 | Human | 1 | name |
| 156178428 | CV2166491 | single nucleotide variant | NM_000126.4(ETFA):c.170G>T (p.Gly57Val) | Multiple acyl-CoA dehydrogenase deficiency [RCV003023750] | uncertain significance | 15 | 76295607 | 76295607 | Human | 1 | name |
| 156092770 | CV2167144 | single nucleotide variant | NM_000126.4(ETFA):c.100G>A (p.Ala34Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV003038278] | uncertain significance | 15 | 76295677 | 76295677 | Human | 1 | name |
| 243062459 | CV2404903 | single nucleotide variant | NM_000126.4(ETFA):c.242A>C (p.His81Pro) | Multiple acyl-CoA dehydrogenase deficiency [RCV003140452] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 76292645 | 76292645 | Human | 1 | name |
| 401857613 | CV2750509 | single nucleotide variant | NM_000126.4(ETFA):c.187G>T (p.Val63Leu) | not provided [RCV003334182] | uncertain significance | 15 | 76292700 | 76292700 | Human | | name |
| 401949726 | CV2834346 | deletion | NM_000126.4(ETFA):c.516del (p.Phe173fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003475597] | likely pathogenic | 15 | 76286417 | 76286417 | Human | 1 | name |
| 401949728 | CV2834348 | single nucleotide variant | NM_000126.4(ETFA):c.193C>T (p.Gln65Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV003475599] | likely pathogenic | 15 | 76292694 | 76292694 | Human | 1 | name |
| 401949730 | CV2834350 | single nucleotide variant | NM_000126.4(ETFA):c.238C>T (p.Gln80Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV003475601] | likely pathogenic | 15 | 76292649 | 76292649 | Human | 1 | name |
| 401949731 | CV2834351 | duplication | NM_000126.4(ETFA):c.689dup (p.Asn230fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003475602] | likely pathogenic | 15 | 76283800 | 76283801 | Human | 1 | name |
| 402476134 | CV2984803 | deletion | NM_000126.4(ETFA):c.560del (p.Lys187fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625317] | pathogenic | 15 | 76286373 | 76286373 | Human | 1 | name |
| 597632642 | CV3704330 | duplication | NM_000126.4(ETFA):c.629dup (p.Glu211fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV005003207] | likely pathogenic | 15 | 76285671 | 76285672 | Human | 1 | name |
| 597632655 | CV3704333 | deletion | NM_000126.4(ETFA):c.422del (p.Pro141fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV005003210] | likely pathogenic | 15 | 76287875 | 76287875 | Human | 1 | name |
| 597951043 | CV3765314 | deletion | NM_000126.4(ETFA):c.499del (p.Ser167fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV005120958] | pathogenic | 15 | 76286434 | 76286434 | Human | 1 | name |
| 597888640 | CV3804736 | single nucleotide variant | NM_000126.4(ETFA):c.137G>A (p.Arg46His) | Multiple acyl-CoA dehydrogenase deficiency [RCV005150998] | uncertain significance | 15 | 76295640 | 76295640 | Human | 1 | name |
| 14706399 | CV643549 | deletion | NM_000126.4(ETFA):c.624del (p.Arg209fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV000803822] | pathogenic|likely pathogenic | 15 | 76285677 | 76285677 | Human | 1 | name |
| 26918649 | CV842711 | deletion | NM_000126.4(ETFA):c.625del (p.Arg209fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV001058139] | pathogenic|likely pathogenic | 15 | 76285676 | 76285676 | Human | 1 | name |
| 28893665 | CV860193 | duplication | NM_000126.4(ETFA):c.15_25dup (p.Gln9fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV001784643]|not provided [RCV001092618] | pathogenic | 15 | 76311363 | 76311364 | Human | 1 | name |
| 40904715 | CV979675 | single nucleotide variant | NM_000126.4(ETFA):c.218T>C (p.Ile73Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV001277761] | uncertain significance | 15 | 76292669 | 76292669 | Human | 1 | name |
| 40904716 | CV979676 | single nucleotide variant | NM_000126.4(ETFA):c.197A>G (p.Asp66Gly) | Multiple acyl-CoA dehydrogenase deficiency [RCV001277762] | uncertain significance | 15 | 76292690 | 76292690 | Human | 1 | name |
| 40904717 | CV979677 | single nucleotide variant | NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) | Multiple acyl-CoA dehydrogenase deficiency [RCV001277763]|not provided [RCV004774373] | uncertain significance | 15 | 76295607 | 76295607 | Human | 1 | name |
| 126728922 | CV1032147 | single nucleotide variant | NM_000126.4(ETFA):c.505C>T (p.Arg169Cys) | Glutaric acidemia type 2A [RCV001831148]|Inborn genetic diseases [RCV002548462]|Multiple acyl-CoA dehydrogenase deficiency [RCV001349016] | uncertain significance | 15 | 76286428 | 76286428 | Human | 3 | name |
| 126762050 | CV1032148 | single nucleotide variant | NM_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 significance | 15 | 76287866 | 76287866 | Human | 2 | name |
| 126923570 | CV1049103 | single nucleotide variant | NM_000126.4(ETFA):c.919A>G (p.Ile307Val) | Glutaric acidemia type 2A [RCV001826047]|Multiple acyl-CoA dehydrogenase deficiency [RCV001365995] | uncertain significance | 15 | 76225893 | 76225893 | Human | 2 | name |
| 126923248 | CV1049104 | single nucleotide variant | NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr) | Multiple acyl-CoA dehydrogenase deficiency [RCV001365627] | uncertain significance | 15 | 76283784 | 76283784 | Human | 1 | name |
| 126923134 | CV1049105 | single nucleotide variant | NM_000126.4(ETFA):c.560A>G (p.Lys187Arg) | Glutaric acidemia type 2A [RCV001826042]|Multiple acyl-CoA dehydrogenase deficiency [RCV001365494] | uncertain significance | 15 | 76286373 | 76286373 | Human | 2 | name |
| 127263818 | CV1063423 | single nucleotide variant | NM_000126.4(ETFA):c.793C>T (p.Gln265Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV001381065] | pathogenic | 15 | 76274435 | 76274435 | Human | 1 | name |
| 150546675 | CV1291593 | single nucleotide variant | NM_000126.4(ETFA):c.494T>C (p.Val165Ala) | Multiple acyl-CoA dehydrogenase deficiency [RCV004571073]|not specified [RCV001733357] | likely pathogenic|uncertain significance | 15 | 76286439 | 76286439 | Human | 1 | name |
| 151780298 | CV1341739 | single nucleotide variant | NM_000126.4(ETFA):c.461T>C (p.Leu154Pro) | Multiple acyl-CoA dehydrogenase deficiency [RCV001897174] | uncertain significance | 15 | 76286472 | 76286472 | Human | 1 | name |
| 151748004 | CV1353113 | single nucleotide variant | NM_000126.4(ETFA):c.300G>T (p.Gln100His) | Multiple acyl-CoA dehydrogenase deficiency [RCV001912666] | uncertain significance | 15 | 76292482 | 76292482 | Human | 1 | name |
| 151792566 | CV1375978 | single nucleotide variant | NM_000126.4(ETFA):c.973G>A (p.Glu325Lys) | Multiple acyl-CoA dehydrogenase deficiency [RCV001973187] | uncertain significance | 15 | 76216588 | 76216588 | Human | 1 | name |
| 151833541 | CV1388455 | single nucleotide variant | NM_000126.4(ETFA):c.745C>T (p.Arg249Cys) | Multiple acyl-CoA dehydrogenase deficiency [RCV001955917] | uncertain significance | 15 | 76274483 | 76274483 | Human | 1 | name |
| 151857553 | CV1408112 | single nucleotide variant | NM_000126.4(ETFA):c.932C>T (p.Ala311Val) | Multiple acyl-CoA dehydrogenase deficiency [RCV001883510] | uncertain significance | 15 | 76225880 | 76225880 | Human | 1 | name |
| 151725380 | CV1418184 | single nucleotide variant | NM_000126.4(ETFA):c.946G>C (p.Val316Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV001891651] | uncertain significance | 15 | 76225866 | 76225866 | Human | 1 | name |
| 151825180 | CV1429491 | duplication | NM_000126.4(ETFA):c.693dup (p.Lys232Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV001993163] | pathogenic|likely pathogenic | 15 | 76283796 | 76283797 | Human | 1 | name |
| 151827407 | CV1437792 | single nucleotide variant | NM_000126.4(ETFA):c.467C>T (p.Thr156Ile) | Inborn genetic diseases [RCV004975804]|Multiple acyl-CoA dehydrogenase deficiency [RCV001920158] | uncertain significance | 15 | 76286466 | 76286466 | Human | 2 | name |
| 151767679 | CV1444316 | single nucleotide variant | NM_000126.4(ETFA):c.592G>C (p.Glu198Gln) | Multiple acyl-CoA dehydrogenase deficiency [RCV001949849] | uncertain significance | 15 | 76285709 | 76285709 | Human | 1 | name |
| 151850163 | CV1452048 | single nucleotide variant | NM_000126.4(ETFA):c.682G>A (p.Gly228Arg) | Multiple acyl-CoA dehydrogenase deficiency [RCV002016468] | uncertain significance | 15 | 76283808 | 76283808 | Human | 1 | name |
| 151832400 | CV1455893 | single nucleotide variant | NM_000126.4(ETFA):c.557A>G (p.Glu186Gly) | Inborn genetic diseases [RCV002545353]|Multiple acyl-CoA dehydrogenase deficiency [RCV002050850]|not provided [RCV003319480] | uncertain significance | 15 | 76286376 | 76286376 | Human | 2 | name |
| 151881381 | CV1484205 | single nucleotide variant | NM_000126.4(ETFA):c.625C>G (p.Arg209Gly) | Multiple acyl-CoA dehydrogenase deficiency [RCV001941093] | uncertain significance | 15 | 76285676 | 76285676 | Human | 1 | name |
| 151882284 | CV1484544 | single nucleotide variant | NM_000126.4(ETFA):c.521A>C (p.Asp174Ala) | Multiple acyl-CoA dehydrogenase deficiency [RCV001941259] | uncertain significance | 15 | 76286412 | 76286412 | Human | 1 | name |
| 155645152 | CV1710632 | single nucleotide variant | NM_000126.4(ETFA):c.776A>G (p.Asn259Ser) | not provided [RCV002293928] | uncertain significance | 15 | 76274452 | 76274452 | Human | | name |
| 8595829 | CV17632 | single nucleotide variant | NM_000126.4(ETFA):c.470T>G (p.Val157Gly) | Glutaric acidemia IIa [RCV000002711]|Multiple acyl-CoA dehydrogenase deficiency [RCV002281690] | pathogenic|likely pathogenic | 15 | 76286463 | 76286463 | Human | 1 | name , alternate_id |
| 8595830 | CV17633 | single nucleotide variant | NM_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 pathogenicity | 15 | 76274431 | 76274431 | Human | 1 | name , trait , alternate_id |
| 8595831 | CV17634 | single nucleotide variant | NM_000126.4(ETFA):c.346G>A (p.Gly116Arg) | Glutaric acidemia IIa [RCV000002713]|Multiple acyl-CoA dehydrogenase deficiency [RCV003472959] | pathogenic|likely pathogenic | 15 | 76292436 | 76292436 | Human | 1 | name , alternate_id |
| 155749164 | CV1771020 | single nucleotide variant | NM_000126.4(ETFA):c.405C>G (p.Ile135Met) | Multiple acyl-CoA dehydrogenase deficiency [RCV002304361] | uncertain significance | 15 | 76287892 | 76287892 | Human | 1 | name |
| 155803165 | CV1857972 | single nucleotide variant | NM_000126.4(ETFA):c.322A>G (p.Ile108Val) | not provided [RCV002461822] | uncertain significance | 15 | 76292460 | 76292460 | Human | | name |
| 156185489 | CV1885732 | single nucleotide variant | NM_000126.4(ETFA):c.668G>A (p.Arg223Gln) | Multiple acyl-CoA dehydrogenase deficiency [RCV003083699]|not provided [RCV003235767] | uncertain significance | 15 | 76283822 | 76283822 | Human | 1 | name |
| 156073862 | CV1889937 | single nucleotide variant | NM_000126.4(ETFA):c.934G>A (p.Asp312Asn) | Inborn genetic diseases [RCV004071845]|Multiple acyl-CoA dehydrogenase deficiency [RCV003079632] | uncertain significance | 15 | 76225878 | 76225878 | Human | 2 | name |
| 156335938 | CV1906021 | single nucleotide variant | NM_000126.4(ETFA):c.866G>C (p.Gly289Ala) | Multiple acyl-CoA dehydrogenase deficiency [RCV003090067] | uncertain significance | 15 | 76231349 | 76231349 | Human | 1 | name |
| 156104902 | CV1917149 | single nucleotide variant | NM_000126.4(ETFA):c.631G>A (p.Glu211Lys) | Multiple acyl-CoA dehydrogenase deficiency [RCV002592413] | uncertain significance | 15 | 76285670 | 76285670 | Human | 1 | name |
| 156449407 | CV1941340 | single nucleotide variant | NM_000126.4(ETFA):c.811G>A (p.Ala271Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV003121529] | uncertain significance | 15 | 76274417 | 76274417 | Human | 1 | name |
| 156446240 | CV1951278 | single nucleotide variant | NM_000126.4(ETFA):c.838A>C (p.Ile280Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV003117210] | uncertain significance | 15 | 76231377 | 76231377 | Human | 1 | name |
| 10056192 | CV200293 | single nucleotide variant | NM_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 significance | 15 | 76231389 | 76231389 | Human | 1 | name , trait , alternate_id |
| 10056188 | CV200294 | single nucleotide variant | NM_000126.4(ETFA):c.580G>A (p.Val194Met) | not specified [RCV000185864] | likely benign | 15 | 76285721 | 76285721 | Human | | name |
| 10056187 | CV200295 | single nucleotide variant | NM_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 significance | 15 | 76286400 | 76286400 | Human | 1 | name , trait , alternate_id |
| 10056191 | CV200296 | single nucleotide variant | NM_000126.3(ETFA):c.360G>T (p.Leu120Phe) | not specified [RCV000185867] | uncertain significance | 15 | 76287937 | 76287937 | Human | | name |
| 156374693 | CV2003915 | single nucleotide variant | NM_000126.4(ETFA):c.334G>A (p.Ala112Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV002653197] | uncertain significance | 15 | 76292448 | 76292448 | Human | 1 | name |
| 156312287 | CV2007029 | single nucleotide variant | NM_000126.4(ETFA):c.994A>G (p.Lys332Glu) | Multiple acyl-CoA dehydrogenase deficiency [RCV002671703] | uncertain significance | 15 | 76216567 | 76216567 | Human | 1 | name |
| 156305163 | CV2013682 | single nucleotide variant | NM_000126.4(ETFA):c.683G>A (p.Gly228Glu) | Multiple acyl-CoA dehydrogenase deficiency [RCV002716243] | uncertain significance | 15 | 76283807 | 76283807 | Human | 1 | name |
| 156305631 | CV2013712 | single nucleotide variant | NM_000126.4(ETFA):c.521A>G (p.Asp174Gly) | Inborn genetic diseases [RCV002716264]|Multiple acyl-CoA dehydrogenase deficiency [RCV002716263] | uncertain significance | 15 | 76286412 | 76286412 | Human | 2 | name |
| 156118781 | CV2035750 | single nucleotide variant | NM_000126.4(ETFA):c.917C>T (p.Pro306Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV002785705] | uncertain significance | 15 | 76225895 | 76225895 | Human | 1 | name |
| 156138663 | CV2040650 | single nucleotide variant | NM_000126.4(ETFA):c.775A>G (p.Asn259Asp) | Multiple acyl-CoA dehydrogenase deficiency [RCV002786443] | uncertain significance | 15 | 76274453 | 76274453 | Human | 1 | name |
| 156004459 | CV2045823 | single nucleotide variant | NM_000126.4(ETFA):c.805A>T (p.Ile269Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV002794781] | uncertain significance | 15 | 76274423 | 76274423 | Human | 1 | name |
| 156005433 | CV2046014 | single nucleotide variant | NM_000126.4(ETFA):c.334G>T (p.Ala112Ser) | Multiple acyl-CoA dehydrogenase deficiency [RCV002794825] | uncertain significance | 15 | 76292448 | 76292448 | Human | 1 | name |
| 156079982 | CV2049963 | single nucleotide variant | NM_000126.4(ETFA):c.345C>A (p.Phe115Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV002823822] | uncertain significance | 15 | 76292437 | 76292437 | Human | 1 | name |
| 156239940 | CV2053047 | single nucleotide variant | NM_000126.4(ETFA):c.323T>C (p.Ile108Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV002791315] | uncertain significance | 15 | 76292459 | 76292459 | Human | 1 | name |
| 155915056 | CV2063097 | single nucleotide variant | NM_000126.4(ETFA):c.974A>G (p.Glu325Gly) | Multiple acyl-CoA dehydrogenase deficiency [RCV002838000] | uncertain significance | 15 | 76216587 | 76216587 | Human | 1 | name |
| 156352898 | CV2065984 | single nucleotide variant | NM_000126.4(ETFA):c.481G>A (p.Glu161Lys) | Multiple acyl-CoA dehydrogenase deficiency [RCV002811916] | uncertain significance | 15 | 76286452 | 76286452 | Human | 1 | name |
| 155958200 | CV2087135 | single nucleotide variant | NM_000126.4(ETFA):c.556G>T (p.Glu186Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV002862723] | pathogenic | 15 | 76286377 | 76286377 | Human | 1 | name |
| 156275191 | CV2133027 | single nucleotide variant | NM_000126.4(ETFA):c.980C>A (p.Thr327Asn) | Multiple acyl-CoA dehydrogenase deficiency [RCV003009403] | uncertain significance | 15 | 76216581 | 76216581 | Human | 1 | name |
| 156326973 | CV2170435 | single nucleotide variant | NM_000126.4(ETFA):c.388G>A (p.Ala130Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV003029545] | uncertain significance | 15 | 76287909 | 76287909 | Human | 1 | name |
| 155980751 | CV2272761 | single nucleotide variant | NM_000126.4(ETFA):c.914C>T (p.Ala305Val) | Inborn genetic diseases [RCV002818555] | uncertain significance | 15 | 76225898 | 76225898 | Human | 1 | name |
| 11350962 | CV237327 | single nucleotide variant | NM_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 significance | 15 | 76287855 | 76287855 | Human | 2 | name |
| 329848729 | CV2523477 | single nucleotide variant | NM_000126.4(ETFA):c.483G>C (p.Glu161Asp) | not provided [RCV003225491] | uncertain significance | 15 | 76286450 | 76286450 | Human | | name |
| 11559763 | CV260080 | single nucleotide variant | NM_000126.4(ETFA):c.625C>T (p.Arg209Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV001228210]|not provided [RCV000254926] | pathogenic|likely pathogenic | 15 | 76285676 | 76285676 | Human | 1 | name |
| 401796136 | CV2739504 | single nucleotide variant | NM_000126.4(ETFA):c.731C>T (p.Ala244Val) | Multiple acyl-CoA dehydrogenase deficiency [RCV003319149] | uncertain significance | 15 | 76283759 | 76283759 | Human | 1 | name |
| 401868061 | CV2749200 | single nucleotide variant | NM_000126.4(ETFA):c.733G>A (p.Val245Ile) | not specified [RCV003332027] | uncertain significance | 15 | 76283757 | 76283757 | Human | | name |
| 401949729 | CV2834349 | single nucleotide variant | NM_000126.4(ETFA):c.365G>A (p.Arg122Lys) | Multiple acyl-CoA dehydrogenase deficiency [RCV003475600] | likely pathogenic | 15 | 76287932 | 76287932 | Human | 1 | name |
| 402471326 | CV3046062 | single nucleotide variant | NM_000126.4(ETFA):c.597G>A (p.Trp199Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624218] | pathogenic | 15 | 76285704 | 76285704 | Human | 1 | name |
| 405758787 | CV3256035 | single nucleotide variant | NM_000126.4(ETFA):c.665G>T (p.Gly222Val) | Inborn genetic diseases [RCV004383100] | uncertain significance | 15 | 76283825 | 76283825 | Human | 1 | name |
| 11645575 | CV333078 | single nucleotide variant | NM_000126.4(ETFA):c.367G>A (p.Val123Ile) | Multiple acyl-CoA dehydrogenase deficiency [RCV000266331] | uncertain significance | 15 | 76287930 | 76287930 | Human | 1 | name |
| 405868406 | CV3400395 | single nucleotide variant | NM_000126.4(ETFA):c.465T>A (p.Cys155Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV004576398] | likely pathogenic | 15 | 76286468 | 76286468 | Human | 1 | name |
| 11655425 | CV341322 | single nucleotide variant | NM_000126.4(ETFA):c.746G>A (p.Arg249His) | Glutaric acidemia type 2A [RCV001835781]|Inborn genetic diseases [RCV002520975]|Multiple acyl-CoA dehydrogenase deficiency [RCV000325820] | uncertain significance | 15 | 76274482 | 76274482 | Human | 3 | name |
| 407475340 | CV3494672 | single nucleotide variant | NM_000126.4(ETFA):c.347G>A (p.Gly116Glu) | not specified [RCV004690571] | uncertain significance | 15 | 76292435 | 76292435 | Human | | name |
| 408366544 | CV3511145 | single nucleotide variant | NM_000126.4(ETFA):c.703T>C (p.Tyr235His) | ETFA-related disorder [RCV004756763] | uncertain significance | 15 | 76283787 | 76283787 | Human | | name , trait , alternate_id |
| 597677919 | CV3665190 | single nucleotide variant | NM_000126.4(ETFA):c.415A>G (p.Lys139Glu) | Inborn genetic diseases [RCV004982258] | uncertain significance | 15 | 76287882 | 76287882 | Human | 1 | name |
| 597677928 | CV3665191 | single nucleotide variant | NM_000126.4(ETFA):c.718C>A (p.Gln240Lys) | Inborn genetic diseases [RCV004982259] | uncertain significance | 15 | 76283772 | 76283772 | Human | 1 | name |
| 597677938 | CV3665192 | single nucleotide variant | NM_000126.4(ETFA):c.715G>A (p.Asp239Asn) | Inborn genetic diseases [RCV004982260] | uncertain significance | 15 | 76283775 | 76283775 | Human | 1 | name |
| 12841587 | CV374747 | single nucleotide variant | NM_000126.4(ETFA):c.985A>C (p.Ile329Leu) | not specified [RCV000432839] | likely benign | 15 | 76216576 | 76216576 | Human | | name |
| 597831581 | CV3750905 | single nucleotide variant | NM_000126.4(ETFA):c.869T>G (p.Met290Arg) | Multiple acyl-CoA dehydrogenase deficiency [RCV005084649] | uncertain significance | 15 | 76231346 | 76231346 | Human | 1 | name |
| 597854739 | CV3762544 | single nucleotide variant | NM_000126.4(ETFA):c.781A>G (p.Met261Val) | not specified [RCV005088462] | uncertain significance | 15 | 76274447 | 76274447 | Human | | name |
| 597929990 | CV3862184 | single nucleotide variant | NM_000126.4(ETFA):c.626G>A (p.Arg209Gln) | Multiple acyl-CoA dehydrogenase deficiency [RCV005206425] | uncertain significance | 15 | 76285675 | 76285675 | Human | 1 | name |
| 598193551 | CV3958357 | single nucleotide variant | NM_000126.4(ETFA):c.758A>T (p.Asp253Val) | Inborn genetic diseases [RCV005335207] | uncertain significance | 15 | 76274470 | 76274470 | Human | 1 | name |
| 12913538 | CV422046 | single nucleotide variant | NM_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 significance | 15 | 76283823 | 76283823 | Human | 2 | name |
| 13478406 | CV445429 | single nucleotide variant | NM_000126.4(ETFA):c.931G>T (p.Ala311Ser) | Glutaric acidemia type 2A [RCV001829514]|Multiple acyl-CoA dehydrogenase deficiency [RCV002525215]|not specified [RCV000520657] | uncertain significance | 15 | 76225881 | 76225881 | Human | 2 | name |
| 13804559 | CV569153 | single nucleotide variant | NM_000126.4(ETFA):c.871A>C (p.Lys291Gln) | Multiple acyl-CoA dehydrogenase deficiency [RCV000699658] | uncertain significance | 15 | 76231344 | 76231344 | Human | 1 | name |
| 13818305 | CV569599 | single nucleotide variant | NM_000126.4(ETFA):c.946G>T (p.Val316Phe) | Multiple acyl-CoA dehydrogenase deficiency [RCV000707619] | uncertain significance | 15 | 76225866 | 76225866 | Human | 1 | name |
| 13821977 | CV569601 | single nucleotide variant | NM_000126.4(ETFA):c.323T>A (p.Ile108Asn) | Glutaric acidemia type 2A [RCV001825367]|Multiple acyl-CoA dehydrogenase deficiency [RCV000696645] | uncertain significance | 15 | 76292459 | 76292459 | Human | 2 | name |
| 14716588 | CV643550 | single nucleotide variant | NM_000126.4(ETFA):c.509G>A (p.Gly170Glu) | Multiple acyl-CoA dehydrogenase deficiency [RCV000795167] | uncertain significance | 15 | 76286424 | 76286424 | Human | 1 | name |
| 26912783 | CV842710 | single nucleotide variant | NM_000126.4(ETFA):c.967G>A (p.Val323Ile) | Multiple acyl-CoA dehydrogenase deficiency [RCV001053833] | uncertain significance | 15 | 76216594 | 76216594 | Human | 1 | name |
| 28877583 | CV874188 | single nucleotide variant | NM_000126.4(ETFA):c.728C>G (p.Ala243Gly) | Multiple acyl-CoA dehydrogenase deficiency [RCV001116620] | uncertain significance | 15 | 76283762 | 76283762 | Human | 1 | name |
| 38462035 | CV919598 | single nucleotide variant | NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) | Multiple acyl-CoA dehydrogenase deficiency [RCV001198108] | uncertain significance | 15 | 76287918 | 76287918 | Human | 1 | name |
| 38481411 | CV927426 | single nucleotide variant | NM_000126.4(ETFA):c.457G>C (p.Ala153Pro) | Glutaric acidemia type 2A [RCV001828734]|Multiple acyl-CoA dehydrogenase deficiency [RCV001217994] | uncertain significance | 15 | 76286476 | 76286476 | Human | 2 | name |
| 38496779 | CV957513 | single nucleotide variant | NM_000126.4(ETFA):c.506G>A (p.Arg169His) | Glutaric acidemia type 2A [RCV001829002]|Multiple acyl-CoA dehydrogenase deficiency [RCV001242777] | uncertain significance | 15 | 76286427 | 76286427 | Human | 2 | name |
| 40904711 | CV979671 | single nucleotide variant | NM_000126.4(ETFA):c.876C>A (p.Asp292Glu) | Multiple acyl-CoA dehydrogenase deficiency [RCV001277756] | uncertain significance | 15 | 76231339 | 76231339 | Human | 1 | name |
| 40904712 | CV979672 | single nucleotide variant | NM_000126.4(ETFA):c.541G>A (p.Gly181Ser) | Multiple acyl-CoA dehydrogenase deficiency [RCV001277758] | uncertain significance | 15 | 76286392 | 76286392 | Human | 1 | name |
| 8639369 | CV98352 | single nucleotide variant | NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) | Multiple acyl-CoA dehydrogenase deficiency [RCV000377415]|not provided [RCV000676979]|not specified [RCV000078134] | benign|likely benign | 15 | 76286421 | 76286421 | Human | 5 | name |
| 8639369 | CV98352 | single nucleotide variant | NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) | Multiple acyl-CoA dehydrogenase deficiency [RCV000377415]|not provided [RCV000676979]|not specified [RCV000078134] | benign|likely benign | 15 | 76286421 | 76286422 | Human | 5 | name |
| 126762858 | CV996402 | single nucleotide variant | NM_000126.4(ETFA):c.392C>T (p.Pro131Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV001300516] | uncertain significance | 15 | 76287905 | 76287905 | Human | 1 | name |
| 150445416 | CV1233175 | insertion | NM_000126.4(ETFA):c.883-77_883-76insGTAAG | not provided [RCV001645848] | benign | 15 | 76226005 | 76226006 | Human | | name |
| 150484590 | CV1263212 | insertion | NM_000126.4(ETFA):c.883-76_883-75insGGTAA | not provided [RCV001686612] | benign | 15 | 76226004 | 76226005 | Human | | name |
| 151752737 | CV1457480 | single nucleotide variant | NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV001913150] | uncertain significance | 15 | 76216560 | 76216560 | Human | 1 | name |
| 150420217 | CV1198680 | microsatellite | NM_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 significance | 15 | 76274417 | 76274419 | Human | | name , alternate_id |
| 150540496 | CV1314621 | microsatellite | NM_000126.4(ETFA):c.319_322del (p.His107fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV001781054] | pathogenic|likely pathogenic | 15 | 76292460 | 76292463 | Human | | name |
| 151869142 | CV1445002 | microsatellite | NM_000126.4(ETFA):c.321_322del (p.Ile108fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV001939556] | pathogenic|likely pathogenic | 15 | 76292460 | 76292461 | Human | | name |
| 155912488 | CV1980283 | duplication | NM_000126.4(ETFA):c.826_833dup (p.Gly279fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV002614093] | pathogenic|likely pathogenic | 15 | 76231381 | 76231382 | Human | 1 | name |
| 401941943 | CV2834345 | deletion | NM_000126.4(ETFA):c.298_325del (p.Gln100fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003467944] | pathogenic|likely pathogenic | 15 | 76292457 | 76292484 | Human | 1 | name |
| 401949734 | CV2834354 | duplication | NM_000126.4(ETFA):c.650_653dup (p.Val219fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003475605] | likely pathogenic | 15 | 76285647 | 76285648 | Human | 1 | name |
| 401949947 | CV2834360 | duplication | NM_000126.4(ETFA):c.371_372dup (p.Ala125fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476349] | likely pathogenic | 15 | 76287924 | 76287925 | Human | 1 | name |
| 404989260 | CV2926332 | microsatellite | NM_000126.4(ETFA):c.593_594del (p.Glu198fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003512635] | pathogenic | 15 | 76285707 | 76285708 | Human | | name |
| 402481103 | CV3023275 | deletion | NM_000126.4(ETFA):c.311_312del (p.Asn104fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003626063] | pathogenic | 15 | 76292470 | 76292471 | Human | 1 | name |
| 402472139 | CV3064613 | deletion | NM_000126.4(ETFA):c.322_323del (p.Ile108fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624340] | pathogenic | 15 | 76292459 | 76292460 | Human | 1 | name |
| 597632651 | CV3704332 | deletion | NM_000126.4(ETFA):c.510_511del (p.Thr171fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV005003209] | likely pathogenic | 15 | 76286422 | 76286423 | Human | 1 | name |
| 597880305 | CV3860883 | deletion | NM_000126.4(ETFA):c.373_376del (p.Ala125fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV005198891] | pathogenic | 15 | 76287921 | 76287924 | Human | 1 | name |
| 13491539 | CV465428 | microsatellite | NM_000126.4(ETFA):c.495_496del (p.Ser167fs) | ETFA-related disorder [RCV003403271]|Multiple acyl-CoA dehydrogenase deficiency [RCV000534299] | pathogenic|likely pathogenic | 15 | 76286437 | 76286438 | Human | | name , trait , alternate_id |
| 34891629 | CV906264 | deletion | NM_000126.4(ETFA):c.884_886del (p.Thr295del) | Multiple acyl-CoA dehydrogenase deficiency [RCV001175202] | likely pathogenic | 15 | 76225926 | 76225928 | Human | 1 | name |
| 156357764 | CV2187240 | deletion | NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del) | Multiple acyl-CoA dehydrogenase deficiency [RCV003048809] | uncertain significance | 15 | 76311373 | 76311399 | Human | 1 | name |
| 155945270 | CV1999366 | deletion | NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del) | Multiple acyl-CoA dehydrogenase deficiency [RCV002685707] | uncertain significance | 15 | 76295637 | 76295708 | Human | 1 | name |
| 401949732 | CV2834352 | indel | NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003475603] | likely pathogenic | 15 | 76287918 | 76287922 | Human | | name |
| 155266196 | CV1698836 | deletion | NM_000126.4(ETFA):c.632_640del (p.Glu211_Thr213del) | Multiple acyl-CoA dehydrogenase deficiency [RCV002281668] | likely pathogenic | 15 | 76285661 | 76285669 | Human | 1 | name |
| 401949948 | CV2834361 | deletion | NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476350] | pathogenic|likely pathogenic | 15 | 76292683 | 76292684 | Human | 1 | name |