| 150462363 | CV1206579 | single nucleotide variant | NM_001985.3(ETFB):c.-16T>C | not provided [RCV001586980] | likely benign | 19 | 51366342 | 51366342 | Human | | name |
| 8690975 | CV140934 | single nucleotide variant | NM_001985.3(ETFB):c.-36G>C | not provided [RCV004717010]|not specified [RCV000124916] | benign | 19 | 51366362 | 51366362 | Human | | name |
| 13529251 | CV507567 | single nucleotide variant | NM_001985.3(ETFB):c.-44C>A | not specified [RCV000600248] | likely benign | 19 | 51366370 | 51366370 | Human | | name |
| 14725431 | CV656595 | single nucleotide variant | NM_001985.3(ETFB):c.-58C>T | not provided [RCV000833436] | likely benign | 19 | 51366384 | 51366384 | Human | | name |
| 405048784 | CV3150800 | single nucleotide variant | NM_001985.3(ETFB):c.57+9G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003849404] | likely benign | 19 | 51366261 | 51366261 | Human | 1 | name |
| 408374707 | CV3502483 | single nucleotide variant | NM_001985.3(ETFB):c.58-6G>A | not provided [RCV004726070] | uncertain significance | 19 | 51354314 | 51354314 | Human | | name |
| 597934413 | CV3845066 | single nucleotide variant | NM_001985.3(ETFB):c.58-7T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV005186379] | likely benign | 19 | 51354315 | 51354315 | Human | 1 | name |
| 14730558 | CV670136 | single nucleotide variant | NM_001985.2(ETFB):c.-170T>C | not provided [RCV000835739] | benign | 19 | 51366496 | 51366496 | Human | | name |
| 15197090 | CV760629 | single nucleotide variant | NM_001985.3(ETFB):c.57+7G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV001501386] | likely benign | 19 | 51366263 | 51366263 | Human | 1 | name |
| 126743121 | CV1018624 | single nucleotide variant | NM_001985.3(ETFB):c.58-87A>C | ETFB-related disorder [RCV003416218]|Multiple acyl-CoA dehydrogenase deficiency [RCV001330124] | uncertain significance | 19 | 51354395 | 51354395 | Human | 1 | name , trait , alternate_id |
| 127338091 | CV1149066 | single nucleotide variant | NM_001985.3(ETFB):c.216+7A>G | ETFB-related disorder [RCV003900701]|Multiple acyl-CoA dehydrogenase deficiency [RCV001493534] | likely benign | 19 | 51354143 | 51354143 | Human | 1 | name , trait , alternate_id |
| 150466508 | CV1201254 | single nucleotide variant | NM_001985.3(ETFB):c.57+36C>T | not provided [RCV001587734] | likely benign | 19 | 51366234 | 51366234 | Human | | name |
| 150433775 | CV1204182 | single nucleotide variant | NM_001985.3(ETFB):c.57+46T>G | not provided [RCV001581931] | likely benign | 19 | 51366224 | 51366224 | Human | | name |
| 151851224 | CV1386104 | single nucleotide variant | NM_001985.3(ETFB):c.597+6C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001937375] | uncertain significance | 19 | 51346894 | 51346894 | Human | 1 | name |
| 151718729 | CV1397379 | single nucleotide variant | NM_001985.3(ETFB):c.438+5G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001982718] | uncertain significance | 19 | 51350324 | 51350324 | Human | 1 | name |
| 10054572 | CV140932 | single nucleotide variant | NM_001985.3(ETFB):c.58-96G>A | ETFB-related disorder [RCV003925234]|Multiple acyl-CoA dehydrogenase deficiency [RCV002055530]|not provided [RCV000224344]|not specified [RCV000124914] | benign|likely benign|conflicting interpretations of pathogenicity | 19 | 51354404 | 51354404 | Human | 1 | name , trait , alternate_id |
| 152176046 | CV1562209 | deletion | NM_001985.3(ETFB):c.57+16del | Multiple acyl-CoA dehydrogenase deficiency [RCV002164186] | likely benign | 19 | 51366254 | 51366254 | Human | 1 | name |
| 152068844 | CV1589097 | single nucleotide variant | NM_001985.3(ETFB):c.439-4C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002209714] | likely benign | 19 | 51347062 | 51347062 | Human | 1 | name |
| 152140673 | CV1609091 | single nucleotide variant | NM_001985.3(ETFB):c.597+9C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002200532] | likely benign | 19 | 51346891 | 51346891 | Human | 1 | name |
| 155796266 | CV1861752 | single nucleotide variant | NM_001985.3(ETFB):c.375+1G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002470034] | likely pathogenic | 19 | 51353131 | 51353131 | Human | 1 | name |
| 155997003 | CV1875979 | single nucleotide variant | NM_001985.3(ETFB):c.375+6T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003076393] | uncertain significance | 19 | 51353126 | 51353126 | Human | 1 | name |
| 156302212 | CV1902174 | single nucleotide variant | NM_001985.3(ETFB):c.376-7C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003087986] | likely benign | 19 | 51350398 | 51350398 | Human | 1 | name |
| 156444240 | CV1937768 | single nucleotide variant | NM_001985.3(ETFB):c.375+7G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003115163] | likely benign | 19 | 51353125 | 51353125 | Human | 1 | name |
| 156435341 | CV1940699 | single nucleotide variant | NM_001985.3(ETFB):c.57+14C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003104803] | likely benign | 19 | 51366256 | 51366256 | Human | 1 | name |
| 10056195 | CV200356 | duplication | NM_001985.3(ETFB):c.58-57dup | Multiple acyl-CoA dehydrogenase deficiency [RCV000721998]|not provided [RCV001535408]|not specified [RCV000185872] | benign|uncertain significance | 19 | 51354360 | 51354361 | Human | 1 | name |
| 155985601 | CV2070365 | single nucleotide variant | NM_001985.3(ETFB):c.598-3C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002842723] | uncertain significance | 19 | 51345384 | 51345384 | Human | 1 | name |
| 156012119 | CV2096270 | single nucleotide variant | NM_001985.3(ETFB):c.438+5G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002909167] | uncertain significance | 19 | 51350324 | 51350324 | Human | 1 | name |
| 156020794 | CV2141260 | single nucleotide variant | NM_001985.3(ETFB):c.375+1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002976143] | likely pathogenic | 19 | 51353131 | 51353131 | Human | 1 | name |
| 156024577 | CV2175106 | single nucleotide variant | NM_001985.3(ETFB):c.438+4A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003035901] | uncertain significance | 19 | 51350325 | 51350325 | Human | 1 | name |
| 243051380 | CV2415853 | single nucleotide variant | NM_001985.3(ETFB):c.58-27C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003148469] | uncertain significance | 19 | 51354335 | 51354335 | Human | 1 | name |
| 401937387 | CV2818698 | single nucleotide variant | NM_001985.3(ETFB):c.439-8C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV005100051]|not provided [RCV003415397] | likely benign|uncertain significance | 19 | 51347066 | 51347066 | Human | 1 | name |
| 401949953 | CV2834366 | single nucleotide variant | NM_001985.3(ETFB):c.375+1G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003476355] | likely pathogenic | 19 | 51353131 | 51353131 | Human | 1 | name |
| 404994086 | CV2868656 | single nucleotide variant | NM_001985.3(ETFB):c.438+7C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003513158] | likely benign | 19 | 51350322 | 51350322 | Human | 1 | name |
| 404996152 | CV2892208 | single nucleotide variant | NM_001985.3(ETFB):c.57+10C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003513357] | likely benign | 19 | 51366260 | 51366260 | Human | 1 | name |
| 404988972 | CV2926074 | single nucleotide variant | NM_001985.3(ETFB):c.57+16T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003512606] | likely benign | 19 | 51366254 | 51366254 | Human | 1 | name |
| 402472870 | CV2941403 | single nucleotide variant | NM_001985.3(ETFB):c.439-1G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003624634] | likely pathogenic | 19 | 51347059 | 51347059 | Human | 1 | name |
| 402472613 | CV2943852 | single nucleotide variant | NM_001985.3(ETFB):c.58-15C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003624573] | likely benign | 19 | 51354323 | 51354323 | Human | 1 | name |
| 402472463 | CV2946452 | single nucleotide variant | NM_001985.3(ETFB):c.216+1G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003624540] | likely pathogenic | 19 | 51354149 | 51354149 | Human | 1 | name |
| 402473423 | CV2951358 | single nucleotide variant | NM_001985.3(ETFB):c.598-9C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003624774] | likely benign | 19 | 51345390 | 51345390 | Human | 1 | name |
| 402473716 | CV2952902 | single nucleotide variant | NM_001985.3(ETFB):c.598-6G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003624850] | likely benign | 19 | 51345387 | 51345387 | Human | 1 | name |
| 402473340 | CV2954403 | single nucleotide variant | NM_001985.3(ETFB):c.598-7T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003624749] | likely benign | 19 | 51345388 | 51345388 | Human | 1 | name |
| 402476076 | CV2987748 | single nucleotide variant | NM_001985.3(ETFB):c.58-10T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003625306] | likely benign | 19 | 51354318 | 51354318 | Human | 1 | name |
| 402477496 | CV3001861 | single nucleotide variant | NM_001985.3(ETFB):c.597+9C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003625571] | likely benign | 19 | 51346891 | 51346891 | Human | 1 | name |
| 402478460 | CV3007920 | single nucleotide variant | NM_001985.3(ETFB):c.57+10C>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003625732] | likely benign | 19 | 51366260 | 51366260 | Human | 1 | name |
| 402480431 | CV3013463 | single nucleotide variant | NM_001985.3(ETFB):c.57+11C>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003625899] | likely benign | 19 | 51366259 | 51366259 | Human | 1 | name |
| 402470417 | CV3037626 | single nucleotide variant | NM_001985.3(ETFB):c.58-20C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003623970] | likely benign | 19 | 51354328 | 51354328 | Human | 1 | name |
| 402474877 | CV3075061 | single nucleotide variant | NM_001985.3(ETFB):c.58-10T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003625079] | likely benign | 19 | 51354318 | 51354318 | Human | 1 | name |
| 405108378 | CV3136659 | single nucleotide variant | NM_001985.3(ETFB):c.598-8A>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003835813] | likely benign | 19 | 51345389 | 51345389 | Human | 1 | name |
| 405207970 | CV3162388 | single nucleotide variant | NM_001985.3(ETFB):c.58-12C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003861687] | likely benign | 19 | 51354320 | 51354320 | Human | 1 | name |
| 8565783 | CV31756 | single nucleotide variant | NM_001985.3(ETFB):c.597+1G>C | Glutaric acidemia IIb [RCV000018201] | pathogenic | 19 | 51346899 | 51346899 | Human | 1 | name , alternate_id |
| 405873982 | CV3400399 | single nucleotide variant | NM_001985.3(ETFB):c.376-2A>C | Multiple acyl-CoA dehydrogenase deficiency [RCV004576402] | likely pathogenic | 19 | 51350393 | 51350393 | Human | 1 | name |
| 405873983 | CV3400400 | duplication | NM_001985.3(ETFB):c.59_63dup | Multiple acyl-CoA dehydrogenase deficiency [RCV004576403] | likely pathogenic | 19 | 51354302 | 51354303 | Human | 1 | name |
| 597751402 | CV3705780 | single nucleotide variant | NM_001985.3(ETFB):c.216+2T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV005015864] | likely pathogenic | 19 | 51354148 | 51354148 | Human | 1 | name |
| 597957263 | CV3751395 | single nucleotide variant | NM_001985.3(ETFB):c.598-8A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV005080700] | likely benign | 19 | 51345389 | 51345389 | Human | 1 | name |
| 597917194 | CV3767810 | single nucleotide variant | NM_001985.3(ETFB):c.217-9C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV005114611] | likely benign | 19 | 51353299 | 51353299 | Human | 1 | name |
| 13535436 | CV507021 | single nucleotide variant | NM_001985.3(ETFB):c.58-91C>T | not specified [RCV000602342] | likely benign | 19 | 51354399 | 51354399 | Human | | name |
| 13535995 | CV507564 | single nucleotide variant | NM_001985.3(ETFB):c.597+6C>A | not specified [RCV000608363] | likely benign | 19 | 51346894 | 51346894 | Human | | name |
| 13538229 | CV507999 | single nucleotide variant | NM_001985.3(ETFB):c.597+8C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002528605]|not specified [RCV000611522] | likely benign | 19 | 51346892 | 51346892 | Human | 1 | name |
| 13618291 | CV533437 | single nucleotide variant | NM_001985.3(ETFB):c.217-4G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV000634900]|not provided [RCV001613419] | benign|likely benign | 19 | 51353294 | 51353294 | Human | 1 | name |
| 13831888 | CV582386 | single nucleotide variant | NM_001985.3(ETFB):c.376-2A>G | not provided [RCV000722573] | uncertain significance | 19 | 51350393 | 51350393 | Human | | name |
| 21068957 | CV788931 | single nucleotide variant | NM_001985.3(ETFB):c.58-57C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV000985168] | likely pathogenic | 19 | 51354365 | 51354365 | Human | 1 | name |
| 21066789 | CV797910 | deletion | NM_001985.3(ETFB):c.598-1del | Multiple acyl-CoA dehydrogenase deficiency [RCV003473538]|not provided [RCV000996996] | likely pathogenic|uncertain significance | 19 | 51345382 | 51345382 | Human | 1 | name |
| 126914304 | CV1038739 | single nucleotide variant | NM_001985.3(ETFB):c.58-260C>A | not provided [RCV001358139] | uncertain significance | 19 | 51354568 | 51354568 | Human | | name |
| 150464022 | CV1252607 | single nucleotide variant | NM_001985.3(ETFB):c.439-90A>G | not provided [RCV001669931] | benign | 19 | 51347148 | 51347148 | Human | | name |
| 150449758 | CV1254019 | single nucleotide variant | NM_001985.3(ETFB):c.58-478G>A | not provided [RCV001667656] | benign | 19 | 51354786 | 51354786 | Human | | name |
| 150492336 | CV1281022 | single nucleotide variant | NM_001985.3(ETFB):c.57+178C>T | not provided [RCV001716792] | benign | 19 | 51366092 | 51366092 | Human | | name |
| 10054569 | CV140929 | single nucleotide variant | NM_001985.3(ETFB):c.58-212A>C | ETFB-related disorder [RCV003925233]|Multiple acyl-CoA dehydrogenase deficiency [RCV000625041]|not provided [RCV000996998]|not specified [RCV000124911] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 51354520 | 51354520 | Human | 1 | name , trait , alternate_id |
| 10054570 | CV140930 | single nucleotide variant | NM_001985.3(ETFB):c.58-176C>T | not provided [RCV004717007]|not specified [RCV000124912] | benign | 19 | 51354484 | 51354484 | Human | | name |
| 10054571 | CV140931 | single nucleotide variant | NM_001985.3(ETFB):c.58-142G>A | not provided [RCV004717008]|not specified [RCV000124913] | benign | 19 | 51354450 | 51354450 | Human | | name |
| 8690974 | CV140933 | single nucleotide variant | NM_001985.3(ETFB):c.438+20C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV001521231]|not provided [RCV004717009]|not specified [RCV000153199] | benign | 19 | 51350309 | 51350309 | Human | 1 | name |
| 152094249 | CV1533617 | single nucleotide variant | NM_001985.3(ETFB):c.439-14C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002094619] | likely benign | 19 | 51347072 | 51347072 | Human | 1 | name |
| 152151945 | CV1652619 | single nucleotide variant | NM_001985.3(ETFB):c.375+14G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002102361] | likely benign | 19 | 51353118 | 51353118 | Human | 1 | name |
| 152150792 | CV1663253 | single nucleotide variant | NM_001985.3(ETFB):c.439-20C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002158160] | likely benign | 19 | 51347078 | 51347078 | Human | 1 | name |
| 156413540 | CV1888008 | single nucleotide variant | NM_001985.3(ETFB):c.597+17C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003073332] | likely benign | 19 | 51346883 | 51346883 | Human | 1 | name |
| 156187379 | CV1933899 | single nucleotide variant | NM_001985.3(ETFB):c.216+10G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002625244] | likely benign | 19 | 51354140 | 51354140 | Human | 1 | name |
| 156118613 | CV1952543 | single nucleotide variant | NM_001985.3(ETFB):c.217-14T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002571773] | likely benign | 19 | 51353304 | 51353304 | Human | 1 | name |
| 156123809 | CV1982896 | single nucleotide variant | NM_001985.3(ETFB):c.376-12C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002623047] | likely benign | 19 | 51350403 | 51350403 | Human | 1 | name |
| 156390721 | CV1990099 | single nucleotide variant | NM_001985.3(ETFB):c.597+18G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV002604644] | likely benign | 19 | 51346882 | 51346882 | Human | 1 | name |
| 156320721 | CV2014464 | single nucleotide variant | NM_001985.3(ETFB):c.375+19C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002672170] | likely benign | 19 | 51353113 | 51353113 | Human | 1 | name |
| 156374936 | CV2024598 | single nucleotide variant | NM_001985.3(ETFB):c.439-18T>C | Multiple acyl-CoA dehydrogenase deficiency [RCV002721836] | likely benign | 19 | 51347076 | 51347076 | Human | 1 | name |
| 156053126 | CV2027464 | single nucleotide variant | NM_001985.3(ETFB):c.597+13C>G | Multiple acyl-CoA dehydrogenase deficiency [RCV002736576] | likely benign | 19 | 51346887 | 51346887 | Human | 1 | name |
| 156323679 | CV2163108 | single nucleotide variant | NM_001985.3(ETFB):c.216+12C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003029343] | likely benign | 19 | 51354138 | 51354138 | Human | 1 | name |
| 156123402 | CV2179663 | deletion | NM_001985.3(ETFB):c.216+18del | Multiple acyl-CoA dehydrogenase deficiency [RCV003039409] | benign | 19 | 51354132 | 51354132 | Human | 1 | name |
| 404991210 | CV2856021 | single nucleotide variant | NM_001985.3(ETFB):c.598-15G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003512837] | likely benign | 19 | 51345396 | 51345396 | Human | 1 | name |
| 404994230 | CV2879621 | single nucleotide variant | NM_001985.3(ETFB):c.597+17C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003513172] | likely benign | 19 | 51346883 | 51346883 | Human | 1 | name |
| 404981566 | CV2911622 | single nucleotide variant | NM_001985.3(ETFB):c.216+20G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV003511605] | likely benign | 19 | 51354130 | 51354130 | Human | 1 | name |
| 402472441 | CV2936531 | single nucleotide variant | NM_001985.3(ETFB):c.217-15C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003624535] | likely benign | 19 | 51353305 | 51353305 | Human | 1 | name |
| 402475749 | CV2973584 | single nucleotide variant | NM_001985.3(ETFB):c.598-18A>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003625244] | likely benign | 19 | 51345399 | 51345399 | Human | 1 | name |
| 402476559 | CV2979033 | single nucleotide variant | NM_001985.3(ETFB):c.375+16C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003625399] | likely benign | 19 | 51353116 | 51353116 | Human | 1 | name |
| 402477861 | CV3002944 | single nucleotide variant | NM_001985.3(ETFB):c.597+19G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003625636] | likely benign | 19 | 51346881 | 51346881 | Human | 1 | name |
| 402479250 | CV3015867 | single nucleotide variant | NM_001985.3(ETFB):c.598-10C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003625837] | likely benign | 19 | 51345391 | 51345391 | Human | 1 | name |
| 402470435 | CV3032222 | single nucleotide variant | NM_001985.3(ETFB):c.438+12G>T | Multiple acyl-CoA dehydrogenase deficiency [RCV003623975] | likely benign | 19 | 51350317 | 51350317 | Human | 1 | name |
| 402470837 | CV3053039 | single nucleotide variant | NM_001985.3(ETFB):c.438+13T>G | Multiple acyl-CoA dehydrogenase deficiency [RCV003624083] | likely benign | 19 | 51350316 | 51350316 | Human | 1 | name |
| 402471579 | CV3067135 | single nucleotide variant | NM_001985.3(ETFB):c.598-15G>A | Multiple acyl-CoA dehydrogenase deficiency [RCV003624281] | likely benign | 19 | 51345396 | 51345396 | Human | 1 | name |
| 405261774 | CV3205198 | single nucleotide variant | NM_001985.3(ETFB):c.58-333A>C | ETFB-related disorder [RCV003944600] | likely benign | 19 | 51354641 | 51354641 | Human | | name , trait , alternate_id |
| 405268156 | CV3219577 | single nucleotide variant | NM_001985.3(ETFB):c.58-195A>C | ETFB-related disorder [RCV003969783] | likely benign | 19 | 51354503 | 51354503 | Human | | name , trait , alternate_id |
| 408379150 | CV3515679 | single nucleotide variant | NM_001985.3(ETFB):c.58-175C>T | ETFB-related disorder [RCV004752564] | likely benign | 19 | 51354483 | 51354483 | Human | | name , trait , alternate_id |
| 12838103 | CV379663 | single nucleotide variant | NM_001985.3(ETFB):c.597+17C>A | Multiple acyl-CoA dehydrogenase deficiency [RCV001861522]|not provided [RCV001703705]|not specified [RCV003993958] | likely benign | 19 | 51346883 | 51346883 | Human | 1 | name |
| 597964801 | CV3796971 | single nucleotide variant | NM_001985.3(ETFB):c.438+10G>C | Multiple acyl-CoA dehydrogenase deficiency [RCV005139931] | likely benign | 19 | 51350319 | 51350319 | Human | 1 | name |
| 597832495 | CV3831257 | single nucleotide variant | NM_001985.3(ETFB):c.376-10C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV005170459] | likely benign | 19 | 51350401 | 51350401 | Human | 1 | name |
| 597869374 | CV3858431 | single nucleotide variant | NM_001985.3(ETFB):c.598-11C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV005197174] | likely benign | 19 | 51345392 | 51345392 | Human | 1 | name |
| 13525151 | CV507998 | single nucleotide variant | NM_001985.3(ETFB):c.598-14C>T | Multiple acyl-CoA dehydrogenase deficiency [RCV002529709]|not specified [RCV000602767] | likely benign | 19 | 51345395 | 51345395 | Human | 1 | name |
| 14730097 | CV668959 | single nucleotide variant | NM_001985.3(ETFB):c.217-87C>T | not provided [RCV000835519] | benign | 19 | 51353377 | 51353377 | Human | | name |
| 14730384 | CV670126 | single nucleotide variant | NM_001985.3(ETFB):c.217-60G>A | not provided [RCV000835653] | benign | 19 | 51353350 | 51353350 | Human | | name |
| 14730094 | CV670128 | single nucleotide variant | NM_001985.3(ETFB):c.217-97C>G | not provided [RCV000835518] | benign | 19 | 51353387 | 51353387 | Human | | name |
| 14730100 | CV670395 | single nucleotide variant | NM_001985.3(ETFB):c.217-75A>G | not provided [RCV000835520] | benign | 19 | 51353365 | 51353365 | Human | | name |
| 14718013 | CV670396 | single nucleotide variant | NM_001985.3(ETFB):c.57+258A>G | not provided [RCV000830256] | benign | 19 | 51366012 | 51366012 | Human | | name |
| 150336571 | CV1173290 | single nucleotide variant | NM_001985.3(ETFB):c.217-124C>T | not provided [RCV001541050] | benign | 19 | 51353414 | 51353414 | Human | | name |
| 150423365 | CV1185523 | single nucleotide variant | NM_001985.3(ETFB):c.439-136C>G | not provided [RCV001555216] | likely benign | 19 | 51347194 | 51347194 | Human | | name |
| 150514587 | CV1228566 | single nucleotide variant | NM_001985.3(ETFB):c.438+115G>A | not provided [RCV001638554] | benign | 19 | 51350214 | 51350214 | Human | | name |
| 150499341 | CV1254343 | single nucleotide variant | NM_001985.3(ETFB):c.376-112C>G | not provided [RCV001676517] | benign | 19 | 51350503 | 51350503 | Human | | name |
| 150501709 | CV1256373 | single nucleotide variant | NM_001985.3(ETFB):c.375+175G>A | not provided [RCV001676997] | benign | 19 | 51352957 | 51352957 | Human | | name |
| 150444974 | CV1261124 | single nucleotide variant | NM_001985.3(ETFB):c.217-131T>C | not provided [RCV001679798] | benign | 19 | 51353421 | 51353421 | Human | | name |
| 150488660 | CV1265283 | single nucleotide variant | NM_001985.3(ETFB):c.438+187C>T | not provided [RCV001687319] | benign | 19 | 51350142 | 51350142 | Human | | name |
| 150496936 | CV1283454 | single nucleotide variant | NM_001985.3(ETFB):c.438+183C>A | not provided [RCV001717769] | benign | 19 | 51350146 | 51350146 | Human | | name |
| 153304922 | CV1687369 | single nucleotide variant | NM_001985.3(ETFB):c.58-1863G>A | not provided [RCV002263187] | benign | 19 | 51356171 | 51356171 | Human | | name |
| 14739369 | CV668951 | single nucleotide variant | NM_001985.3(ETFB):c.439-173A>G | not provided [RCV000839845] | benign | 19 | 51347231 | 51347231 | Human | | name |
| 14739360 | CV668952 | single nucleotide variant | NM_001985.3(ETFB):c.376-227C>T | not provided [RCV000839841] | benign | 19 | 51350618 | 51350618 | Human | | name |
| 14718108 | CV668957 | single nucleotide variant | NM_001985.3(ETFB):c.376-292T>C | not provided [RCV000830287] | likely benign | 19 | 51350683 | 51350683 | Human | | name |
| 14739391 | CV670032 | single nucleotide variant | NM_001985.3(ETFB):c.598-189T>C | not provided [RCV000839854] | benign | 19 | 51345570 | 51345570 | Human | | name |
| 14742698 | CV670034 | single nucleotide variant | NM_001985.3(ETFB):c.597+191G>A | not provided [RCV000841568] | benign | 19 | 51346709 | 51346709 | Human | | name |
| 14742695 | CV670037 | single nucleotide variant | NM_001985.3(ETFB):c.439-194G>A | not provided [RCV000841566] | benign | 19 | 51347252 | 51347252 | Human | | name |
| 14746057 | CV670041 | single nucleotide variant | NM_001985.3(ETFB):c.439-285A>G | not provided [RCV000844034] | benign | 19 | 51347343 | 51347343 | Human | | name |
| 14716248 | CV670045 | single nucleotide variant | NM_001985.3(ETFB):c.375+215G>A | not provided [RCV000829664] | likely benign | 19 | 51352917 | 51352917 | Human | | name |
| 14739388 | CV670384 | single nucleotide variant | NM_001985.3(ETFB):c.598-199T>C | not provided [RCV000839853] | benign | 19 | 51345580 | 51345580 | Human | | name |
| 14739372 | CV670385 | single nucleotide variant | NM_001985.3(ETFB):c.597+227C>G | not provided [RCV000839846] | benign | 19 | 51346673 | 51346673 | Human | | name |
| 14719003 | CV670386 | single nucleotide variant | NM_001985.3(ETFB):c.439-321C>T | not provided [RCV000830582] | benign | 19 | 51347379 | 51347379 | Human | | name |
| 14746055 | CV670387 | single nucleotide variant | NM_001985.3(ETFB):c.438+295G>C | not provided [RCV000844032] | benign | 19 | 51350034 | 51350034 | Human | | name |
| 14739365 | CV670392 | single nucleotide variant | NM_001985.3(ETFB):c.438+231T>C | not provided [RCV000839843] | benign | 19 | 51350098 | 51350098 | Human | | name |
| 14739394 | CV670394 | single nucleotide variant | NM_001985.3(ETFB):c.376-179G>A | not provided [RCV000839855] | benign | 19 | 51350570 | 51350570 | Human | | name |
| 402479725 | CV3013343 | microsatellite | NM_001985.3(ETFB):c.58-8_58-6del | Multiple acyl-CoA dehydrogenase deficiency [RCV003625893] | likely benign | 19 | 51354314 | 51354316 | Human | | name |
| 152140266 | CV1551316 | single nucleotide variant | NM_001985.3(ETFB):c.6G>T (p.Ala2=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002177963] | likely benign | 19 | 51366321 | 51366321 | Human | 1 | name |
| 152138705 | CV1574520 | single nucleotide variant | NM_001985.3(ETFB):c.9G>A (p.Glu3=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002177761] | likely benign | 19 | 51366318 | 51366318 | Human | 1 | name |
| 156058330 | CV2089961 | deletion | NM_001985.3(ETFB):c.341_375+154del | Multiple acyl-CoA dehydrogenase deficiency [RCV002868020] | likely pathogenic | 19 | 51352978 | 51353166 | Human | 1 | name |
| 402476342 | CV2985382 | single nucleotide variant | NM_001985.3(ETFB):c.6G>A (p.Ala2=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625358] | likely benign | 19 | 51366321 | 51366321 | Human | 1 | name |
| 152172917 | CV1652794 | single nucleotide variant | NM_001985.3(ETFB):c.18G>C (p.Val6=) | ETFB-related disorder [RCV003895970]|Multiple acyl-CoA dehydrogenase deficiency [RCV002143936]|not provided [RCV005412380] | likely benign|uncertain significance | 19 | 51366309 | 51366309 | Human | 1 | name , trait , alternate_id |
| 155972822 | CV2021709 | single nucleotide variant | NM_001985.3(ETFB):c.15C>T (p.Arg5=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002754970] | likely benign | 19 | 51366312 | 51366312 | Human | 1 | name |
| 402473804 | CV2963570 | single nucleotide variant | NM_001985.3(ETFB):c.12G>C (p.Leu4=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624870] | likely benign | 19 | 51366315 | 51366315 | Human | 1 | name |
| 405222813 | CV3154991 | single nucleotide variant | NM_001985.3(ETFB):c.12G>A (p.Leu4=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003847487] | likely benign | 19 | 51366315 | 51366315 | Human | 1 | name |
| 597928680 | CV3779798 | single nucleotide variant | NM_001985.3(ETFB):c.15C>G (p.Arg5=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005116327] | likely benign | 19 | 51366312 | 51366312 | Human | 1 | name |
| 13832495 | CV582990 | insertion | NM_001985.3(ETFB):c.58-53_58-52insG | not provided [RCV000723184] | uncertain significance | 19 | 51354360 | 51354361 | Human | | name |
| 15117256 | CV742094 | single nucleotide variant | NM_001985.3(ETFB):c.24A>G (p.Val8=) | not provided [RCV000895345] | likely benign | 19 | 51366303 | 51366303 | Human | | name |
| 151885608 | CV1432093 | single nucleotide variant | NM_001985.3(ETFB):c.99T>C (p.Gly33=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002037796] | likely benign | 19 | 51354267 | 51354267 | Human | 1 | name |
| 152116984 | CV1541067 | single nucleotide variant | NM_001985.3(ETFB):c.90C>A (p.Val30=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002197522] | likely benign | 19 | 51354276 | 51354276 | Human | 1 | name |
| 152176051 | CV1562220 | single nucleotide variant | NM_001985.3(ETFB):c.81C>T (p.Thr27=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002164191] | likely benign | 19 | 51354285 | 51354285 | Human | 1 | name |
| 152102305 | CV1591075 | deletion | NM_001985.3(ETFB):c.597+12_597+25del | Multiple acyl-CoA dehydrogenase deficiency [RCV002195704] | likely benign | 19 | 51346875 | 51346888 | Human | 1 | name |
| 152075883 | CV1632607 | single nucleotide variant | NM_001985.3(ETFB):c.48C>T (p.Tyr16=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002169907] | likely benign | 19 | 51366279 | 51366279 | Human | 1 | name |
| 156164153 | CV1929889 | single nucleotide variant | NM_001985.3(ETFB):c.93G>C (p.Thr31=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002624488] | likely benign | 19 | 51354273 | 51354273 | Human | 1 | name |
| 10056193 | CV200358 | duplication | NM_001985.3(ETFB):c.58-318_58-313dup | Multiple acyl-CoA dehydrogenase deficiency [RCV000722009]|not provided [RCV001704963] | benign|likely benign | 19 | 51354620 | 51354621 | Human | 1 | name |
| 156179655 | CV2023281 | single nucleotide variant | NM_001985.3(ETFB):c.2T>C (p.Met1Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV002765576] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 51366325 | 51366325 | Human | 1 | name |
| 404991795 | CV2866798 | single nucleotide variant | NM_001985.3(ETFB):c.33G>A (p.Lys11=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003512894] | likely benign | 19 | 51366294 | 51366294 | Human | 1 | name |
| 405000370 | CV2895779 | single nucleotide variant | NM_001985.3(ETFB):c.72T>A (p.Pro24=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003513782] | likely benign | 19 | 51354294 | 51354294 | Human | 1 | name |
| 404990933 | CV2930525 | single nucleotide variant | NM_001985.3(ETFB):c.61C>A (p.Arg21=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003512808] | likely benign | 19 | 51354305 | 51354305 | Human | 1 | name |
| 402475097 | CV2964267 | microsatellite | NM_001985.3(ETFB):c.439-20_439-18del | Multiple acyl-CoA dehydrogenase deficiency [RCV003625121] | likely benign | 19 | 51347076 | 51347078 | Human | | name |
| 402470808 | CV3037185 | single nucleotide variant | NM_001985.3(ETFB):c.75C>T (p.Asp25=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624075] | likely benign | 19 | 51354291 | 51354291 | Human | 1 | name |
| 402470516 | CV3041089 | single nucleotide variant | NM_001985.3(ETFB):c.69G>A (p.Lys23=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003623997] | likely benign | 19 | 51354297 | 51354297 | Human | 1 | name |
| 405211963 | CV3173543 | single nucleotide variant | NM_001985.3(ETFB):c.30C>G (p.Val10=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003862292] | likely benign | 19 | 51366297 | 51366297 | Human | 1 | name |
| 13828878 | CV581777 | deletion | NM_001985.3(ETFB):c.58-196_58-194del | Multiple acyl-CoA dehydrogenase deficiency [RCV000721999] | uncertain significance | 19 | 51354502 | 51354504 | Human | 1 | name |
| 127282186 | CV1084990 | single nucleotide variant | NM_001985.3(ETFB):c.138G>C (p.Val46=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001410982] | likely benign | 19 | 51354228 | 51354228 | Human | 1 | name |
| 127248089 | CV1106715 | single nucleotide variant | NM_001985.3(ETFB):c.267G>A (p.Val89=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001424865] | likely benign | 19 | 51353240 | 51353240 | Human | 1 | name |
| 127261668 | CV1106716 | single nucleotide variant | NM_001985.3(ETFB):c.151C>A (p.Arg51=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001428098] | likely benign | 19 | 51354215 | 51354215 | Human | 1 | name |
| 151802023 | CV1404792 | single nucleotide variant | NM_001985.3(ETFB):c.22G>A (p.Val8Ile) | Inborn genetic diseases [RCV002550998]|Multiple acyl-CoA dehydrogenase deficiency [RCV001932399]|not provided [RCV004797961] | uncertain significance | 19 | 51366305 | 51366305 | Human | 2 | name |
| 152149002 | CV1569198 | single nucleotide variant | NM_001985.3(ETFB):c.117C>T (p.Asn39=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002220500] | likely benign | 19 | 51354249 | 51354249 | Human | 1 | name |
| 156130617 | CV1885482 | single nucleotide variant | NM_001985.3(ETFB):c.186C>T (p.Ile62=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003081821] | likely benign | 19 | 51354180 | 51354180 | Human | 1 | name |
| 156025703 | CV1896217 | single nucleotide variant | NM_001985.3(ETFB):c.282A>G (p.Ala94=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003100415] | likely benign | 19 | 51353225 | 51353225 | Human | 1 | name |
| 156444312 | CV1938167 | single nucleotide variant | NM_001985.3(ETFB):c.22G>C (p.Val8Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV003115235] | uncertain significance | 19 | 51366305 | 51366305 | Human | 1 | name |
| 155938041 | CV2046031 | single nucleotide variant | NM_001985.3(ETFB):c.14G>T (p.Arg5Leu) | Inborn genetic diseases [RCV005333337]|Multiple acyl-CoA dehydrogenase deficiency [RCV002751596] | uncertain significance | 19 | 51366313 | 51366313 | Human | 2 | name |
| 156038430 | CV2089510 | single nucleotide variant | NM_001985.3(ETFB):c.297G>A (p.Leu99=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002867341] | likely benign | 19 | 51353210 | 51353210 | Human | 1 | name |
| 156163433 | CV2096989 | single nucleotide variant | NM_001985.3(ETFB):c.273G>A (p.Val91=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002872746] | likely benign | 19 | 51353234 | 51353234 | Human | 1 | name |
| 156313702 | CV2120186 | single nucleotide variant | NM_001985.3(ETFB):c.231C>T (p.Thr77=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002962767] | likely benign | 19 | 51353276 | 51353276 | Human | 1 | name |
| 156363411 | CV2180658 | single nucleotide variant | NM_001985.3(ETFB):c.123C>T (p.Phe41=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003049180] | likely benign | 19 | 51354243 | 51354243 | Human | 1 | name |
| 401949949 | CV2834362 | duplication | NM_001985.3(ETFB):c.32dup (p.Arg12fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476351] | likely pathogenic | 19 | 51366294 | 51366295 | Human | 1 | name |
| 401949956 | CV2834369 | deletion | NM_001985.3(ETFB):c.61del (p.Arg21fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476358] | pathogenic|likely pathogenic | 19 | 51354305 | 51354305 | Human | 1 | name |
| 401949958 | CV2834371 | deletion | NM_001985.3(ETFB):c.94del (p.Asp32fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476360] | likely pathogenic | 19 | 51354272 | 51354272 | Human | 1 | name |
| 404997803 | CV2893620 | single nucleotide variant | NM_001985.3(ETFB):c.180G>A (p.Glu60=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003513511] | likely benign | 19 | 51354186 | 51354186 | Human | 1 | name |
| 404981609 | CV2911959 | single nucleotide variant | NM_001985.3(ETFB):c.156C>G (p.Leu52=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003511614] | likely benign | 19 | 51354210 | 51354210 | Human | 1 | name |
| 402473305 | CV2950603 | single nucleotide variant | NM_001985.3(ETFB):c.111C>T (p.Ser37=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624736] | likely benign | 19 | 51354255 | 51354255 | Human | 1 | name |
| 402476281 | CV2988568 | single nucleotide variant | NM_001985.3(ETFB):c.201G>A (p.Gly67=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625347] | likely benign | 19 | 51354165 | 51354165 | Human | 1 | name |
| 402470263 | CV3020794 | single nucleotide variant | NM_001985.3(ETFB):c.135G>C (p.Ala45=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003623928] | likely benign | 19 | 51354231 | 51354231 | Human | 1 | name |
| 402470851 | CV3049669 | single nucleotide variant | NM_001985.3(ETFB):c.222G>A (p.Thr74=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624087] | likely benign | 19 | 51353285 | 51353285 | Human | 1 | name |
| 405113278 | CV3118733 | single nucleotide variant | NM_001985.3(ETFB):c.174G>A (p.Val58=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003813961] | likely benign | 19 | 51354192 | 51354192 | Human | 1 | name |
| 405222941 | CV3155011 | single nucleotide variant | NM_001985.3(ETFB):c.225T>A (p.Ile75=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003847507] | likely benign | 19 | 51353282 | 51353282 | Human | 1 | name |
| 405242930 | CV3164669 | single nucleotide variant | NM_001985.3(ETFB):c.285A>G (p.Glu95=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003867750] | likely benign | 19 | 51353222 | 51353222 | Human | 1 | name |
| 402523747 | CV3175858 | single nucleotide variant | NM_001985.3(ETFB):c.267G>T (p.Val89=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003879958] | likely benign | 19 | 51353240 | 51353240 | Human | 1 | name |
| 405278914 | CV3212750 | single nucleotide variant | NM_001985.3(ETFB):c.177G>A (p.Lys59=) | ETFB-related disorder [RCV003954767] | likely benign | 19 | 51354189 | 51354189 | Human | | name , trait , alternate_id |
| 597899031 | CV3826714 | single nucleotide variant | NM_001985.3(ETFB):c.237G>C (p.Leu79=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005180847] | likely benign | 19 | 51353270 | 51353270 | Human | 1 | name |
| 597862044 | CV3860481 | deletion | NM_001985.3(ETFB):c.81del (p.Gly28fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV005196009] | pathogenic | 19 | 51354285 | 51354285 | Human | 1 | name |
| 617149854 | CV4017304 | single nucleotide variant | NM_001985.3(ETFB):c.19C>T (p.Leu7Phe) | not provided [RCV005416961] | uncertain significance | 19 | 51366308 | 51366308 | Human | | name |
| 13530037 | CV507019 | single nucleotide variant | NM_001985.3(ETFB):c.135G>A (p.Ala45=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003117415]|not specified [RCV000600542] | likely benign | 19 | 51354231 | 51354231 | Human | 1 | name |
| 15115668 | CV694511 | single nucleotide variant | NM_001985.3(ETFB):c.264C>T (p.His88=) | ETFB-related disorder [RCV003920419]|Multiple acyl-CoA dehydrogenase deficiency [RCV002064722] | likely benign | 19 | 51353243 | 51353243 | Human | 1 | name , trait , alternate_id |
| 15163717 | CV716648 | single nucleotide variant | NM_001985.3(ETFB):c.253C>A (p.Arg85=) | Multiple acyl-CoA dehydrogenase deficiency [RCV000970547]|not provided [RCV004704381] | likely benign | 19 | 51353254 | 51353254 | Human | 1 | name |
| 15165055 | CV757228 | single nucleotide variant | NM_001985.3(ETFB):c.252C>T (p.Asp84=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001469751] | likely benign | 19 | 51353255 | 51353255 | Human | 1 | name |
| 15133132 | CV757229 | single nucleotide variant | NM_001985.3(ETFB):c.189C>T (p.Ala63=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002065955] | likely benign | 19 | 51354177 | 51354177 | Human | 1 | name |
| 15149237 | CV757230 | single nucleotide variant | NM_001985.3(ETFB):c.132C>T (p.Ile44=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003512088] | likely benign | 19 | 51354234 | 51354234 | Human | 1 | name |
| 8636957 | CV92182 | single nucleotide variant | NM_001985.2(ETFB):c.189C>G (p.Ala63=) | Malignant melanoma [RCV000072280] | not provided | 19 | 51354177 | 51354177 | Human | | name |
| 127321855 | CV1149065 | single nucleotide variant | NM_001985.3(ETFB):c.705C>T (p.Ala235=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001484711] | likely benign | 19 | 51345274 | 51345274 | Human | 1 | name |
| 151802457 | CV1351616 | single nucleotide variant | NM_001985.3(ETFB):c.62G>A (p.Arg21Gln) | Multiple acyl-CoA dehydrogenase deficiency [RCV001974033] | uncertain significance | 19 | 51354304 | 51354304 | Human | 1 | name |
| 151863192 | CV1353610 | single nucleotide variant | NM_001985.3(ETFB):c.92C>T (p.Thr31Met) | Inborn genetic diseases [RCV003348639]|Multiple acyl-CoA dehydrogenase deficiency [RCV001924272] | uncertain significance | 19 | 51354274 | 51354274 | Human | 2 | name |
| 151876890 | CV1461460 | single nucleotide variant | NM_001985.3(ETFB):c.82G>A (p.Gly28Ser) | Inborn genetic diseases [RCV002556356]|Multiple acyl-CoA dehydrogenase deficiency [RCV001925930] | uncertain significance | 19 | 51354284 | 51354284 | Human | 2 | name |
| 151892462 | CV1481146 | single nucleotide variant | NM_001985.3(ETFB):c.40A>C (p.Ile14Leu) | Inborn genetic diseases [RCV002561431]|Multiple acyl-CoA dehydrogenase deficiency [RCV001944138]|not provided [RCV004793625] | uncertain significance | 19 | 51366287 | 51366287 | Human | 2 | name |
| 152125439 | CV1554057 | single nucleotide variant | NM_001985.3(ETFB):c.414A>G (p.Thr138=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002098752] | likely benign | 19 | 51350353 | 51350353 | Human | 1 | name |
| 152060858 | CV1618342 | single nucleotide variant | NM_001985.3(ETFB):c.402A>G (p.Thr134=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002090236] | likely benign | 19 | 51350365 | 51350365 | Human | 1 | name |
| 152032634 | CV1643135 | single nucleotide variant | NM_001985.3(ETFB):c.480G>A (p.Leu160=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002205012] | likely benign | 19 | 51347017 | 51347017 | Human | 1 | name |
| 152070241 | CV1650747 | single nucleotide variant | NM_001985.3(ETFB):c.762G>T (p.Arg254=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002147978] | likely benign | 19 | 51345217 | 51345217 | Human | 1 | name |
| 155800013 | CV1862757 | deletion | NM_001985.3(ETFB):c.136del (p.Val46fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV002472164] | likely pathogenic | 19 | 51354230 | 51354230 | Human | 1 | name |
| 156038933 | CV1890868 | single nucleotide variant | NM_001985.3(ETFB):c.49G>T (p.Ala17Ser) | Multiple acyl-CoA dehydrogenase deficiency [RCV003078435] | uncertain significance | 19 | 51366278 | 51366278 | Human | 1 | name |
| 156025710 | CV1918692 | single nucleotide variant | NM_001985.3(ETFB):c.78G>T (p.Arg26Ser) | Multiple acyl-CoA dehydrogenase deficiency [RCV002636931] | uncertain significance | 19 | 51354288 | 51354288 | Human | 1 | name |
| 156121318 | CV1959449 | single nucleotide variant | NM_001985.3(ETFB):c.564C>T (p.Asn188=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002571877] | likely benign | 19 | 51346933 | 51346933 | Human | 1 | name |
| 156279238 | CV1967827 | single nucleotide variant | NM_001985.3(ETFB):c.82G>C (p.Gly28Arg) | Multiple acyl-CoA dehydrogenase deficiency [RCV002598342] | uncertain significance | 19 | 51354284 | 51354284 | Human | 1 | name |
| 156405632 | CV1994497 | single nucleotide variant | NM_001985.3(ETFB):c.666C>T (p.Leu222=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002658354] | likely benign | 19 | 51345313 | 51345313 | Human | 1 | name |
| 10056198 | CV200348 | single nucleotide variant | NM_001985.3(ETFB):c.447C>T (p.Phe149=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001084836]|not provided [RCV000676880]|not specified [RCV000185875] | benign | 19 | 51347050 | 51347050 | Human | 1 | name |
| 156120793 | CV2013792 | single nucleotide variant | NM_001985.3(ETFB):c.450C>A (p.Ala150=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002740188] | likely benign | 19 | 51347047 | 51347047 | Human | 1 | name |
| 156242741 | CV2024638 | single nucleotide variant | NM_001985.3(ETFB):c.588C>G (p.Pro196=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002745717] | likely benign | 19 | 51346909 | 51346909 | Human | 1 | name |
| 156053205 | CV2027467 | single nucleotide variant | NM_001985.3(ETFB):c.504G>C (p.Gly168=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002736579] | likely benign | 19 | 51346993 | 51346993 | Human | 1 | name |
| 155977667 | CV2028443 | single nucleotide variant | NM_001985.3(ETFB):c.98G>A (p.Gly33Asp) | Multiple acyl-CoA dehydrogenase deficiency [RCV002755179] | uncertain significance | 19 | 51354268 | 51354268 | Human | 1 | name |
| 156260191 | CV2033920 | single nucleotide variant | NM_001985.3(ETFB):c.705C>A (p.Ala235=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002746281] | likely benign | 19 | 51345274 | 51345274 | Human | 1 | name |
| 156122888 | CV2039955 | single nucleotide variant | NM_001985.3(ETFB):c.726T>C (p.Thr242=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002785862] | likely benign | 19 | 51345253 | 51345253 | Human | 1 | name |
| 156004178 | CV2057641 | single nucleotide variant | NM_001985.3(ETFB):c.52G>T (p.Val18Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV002819796] | uncertain significance | 19 | 51366275 | 51366275 | Human | 1 | name |
| 156112016 | CV2117341 | single nucleotide variant | NM_001985.3(ETFB):c.636G>A (p.Gly212=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002953155] | likely benign | 19 | 51345343 | 51345343 | Human | 1 | name |
| 11060003 | CV226975 | duplication | NM_001985.3(ETFB):c.278dup (p.Ala94fs) | Inborn genetic diseases [RCV000210613] | uncertain significance | 19 | 51353228 | 51353229 | Human | 1 | name |
| 401949952 | CV2834365 | single nucleotide variant | NM_001985.3(ETFB):c.61C>T (p.Arg21Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476354] | pathogenic|likely pathogenic | 19 | 51354305 | 51354305 | Human | 1 | name |
| 401949955 | CV2834368 | deletion | NM_001985.3(ETFB):c.208del (p.Gln70fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476357] | likely pathogenic | 19 | 51354158 | 51354158 | Human | 1 | name |
| 404997634 | CV2883260 | single nucleotide variant | NM_001985.3(ETFB):c.732C>T (p.Asp244=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003513496] | likely benign | 19 | 51345247 | 51345247 | Human | 1 | name |
| 405000252 | CV2902528 | single nucleotide variant | NM_001985.3(ETFB):c.654G>C (p.Leu218=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003513769] | likely benign | 19 | 51345325 | 51345325 | Human | 1 | name |
| 404982420 | CV2919432 | single nucleotide variant | NM_001985.3(ETFB):c.652C>T (p.Leu218=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003511753] | likely benign | 19 | 51345327 | 51345327 | Human | 1 | name |
| 404989643 | CV2932639 | single nucleotide variant | NM_001985.3(ETFB):c.351G>A (p.Val117=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003512673] | likely benign | 19 | 51353156 | 51353156 | Human | 1 | name |
| 402473375 | CV2951254 | single nucleotide variant | NM_001985.3(ETFB):c.747G>A (p.Leu249=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624760] | likely benign | 19 | 51345232 | 51345232 | Human | 1 | name |
| 402473574 | CV2952241 | single nucleotide variant | NM_001985.3(ETFB):c.648G>T (p.Val216=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624817] | likely benign | 19 | 51345331 | 51345331 | Human | 1 | name |
| 402473564 | CV2956025 | single nucleotide variant | NM_001985.3(ETFB):c.663G>A (p.Lys221=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624814] | likely benign | 19 | 51345316 | 51345316 | Human | 1 | name |
| 402473334 | CV2958084 | single nucleotide variant | NM_001985.3(ETFB):c.553C>T (p.Leu185=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624747] | likely benign | 19 | 51346944 | 51346944 | Human | 1 | name |
| 402478820 | CV3012341 | single nucleotide variant | NM_001985.3(ETFB):c.456G>A (p.Gln152=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625782] | likely benign | 19 | 51347041 | 51347041 | Human | 1 | name |
| 402480122 | CV3018130 | single nucleotide variant | NM_001985.3(ETFB):c.327C>A (p.Ala109=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625968] | likely benign | 19 | 51353180 | 51353180 | Human | 1 | name |
| 402470315 | CV3031400 | single nucleotide variant | NM_001985.3(ETFB):c.355C>T (p.Leu119=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003623943] | likely benign | 19 | 51353152 | 51353152 | Human | 1 | name |
| 402470750 | CV3034174 | single nucleotide variant | NM_001985.3(ETFB):c.531G>A (p.Leu177=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624059] | likely benign | 19 | 51346966 | 51346966 | Human | 1 | name |
| 402470370 | CV3034570 | single nucleotide variant | NM_001985.3(ETFB):c.315T>A (p.Ala105=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003623957] | likely benign | 19 | 51353192 | 51353192 | Human | 1 | name |
| 402470588 | CV3036020 | single nucleotide variant | NM_001985.3(ETFB):c.324G>A (p.Leu108=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624016] | likely benign | 19 | 51353183 | 51353183 | Human | 1 | name |
| 402470919 | CV3053535 | single nucleotide variant | NM_001985.3(ETFB):c.669T>C (p.Ser223=) | ETFB-related disorder [RCV003929300]|Multiple acyl-CoA dehydrogenase deficiency [RCV003624105] | likely benign | 19 | 51345310 | 51345310 | Human | 1 | name , trait , alternate_id |
| 402471147 | CV3054800 | single nucleotide variant | NM_001985.3(ETFB):c.53T>G (p.Val18Gly) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624168] | uncertain significance | 19 | 51366274 | 51366274 | Human | 1 | name |
| 402471667 | CV3057354 | single nucleotide variant | NM_001985.3(ETFB):c.760C>A (p.Arg254=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003624302] | likely benign | 19 | 51345219 | 51345219 | Human | 1 | name |
| 402474869 | CV3074945 | single nucleotide variant | NM_001985.3(ETFB):c.492G>A (p.Arg164=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625077] | likely benign | 19 | 51347005 | 51347005 | Human | 1 | name |
| 405072772 | CV3145455 | single nucleotide variant | NM_001985.3(ETFB):c.462G>A (p.Thr154=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003851040] | likely benign | 19 | 51347035 | 51347035 | Human | 1 | name |
| 405162213 | CV3160075 | single nucleotide variant | NM_001985.3(ETFB):c.666C>G (p.Leu222=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003857146] | likely benign | 19 | 51345313 | 51345313 | Human | 1 | name |
| 405093552 | CV3164158 | single nucleotide variant | NM_001985.3(ETFB):c.381C>T (p.Ile127=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003852473] | likely benign | 19 | 51350386 | 51350386 | Human | 1 | name |
| 405225448 | CV3169249 | single nucleotide variant | NM_001985.3(ETFB):c.306G>A (p.Leu102=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003864272] | likely benign | 19 | 51353201 | 51353201 | Human | 1 | name |
| 402517088 | CV3179020 | single nucleotide variant | NM_001985.3(ETFB):c.690G>A (p.Pro230=) | Multiple acyl-CoA dehydrogenase deficiency [RCV003879453] | likely benign | 19 | 51345289 | 51345289 | Human | 1 | name |
| 405758801 | CV3256038 | single nucleotide variant | NM_001985.3(ETFB):c.62G>C (p.Arg21Pro) | Inborn genetic diseases [RCV004383103] | uncertain significance | 19 | 51354304 | 51354304 | Human | 1 | name |
| 597957610 | CV3755120 | single nucleotide variant | NM_001985.3(ETFB):c.426T>C (p.Leu142=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005080790] | likely benign | 19 | 51350341 | 51350341 | Human | 1 | name |
| 597857636 | CV3755752 | single nucleotide variant | NM_001985.3(ETFB):c.603C>T (p.Ala201=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005088903] | likely benign | 19 | 51345376 | 51345376 | Human | 1 | name |
| 12844013 | CV376862 | single nucleotide variant | NM_001985.3(ETFB):c.519G>C (p.Leu173=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002061386]|not specified [RCV000437246] | likely benign | 19 | 51346978 | 51346978 | Human | 1 | name |
| 12839663 | CV378087 | single nucleotide variant | NM_001985.3(ETFB):c.702G>A (p.Thr234=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001480063]|not specified [RCV000429243] | likely benign | 19 | 51345277 | 51345277 | Human | 1 | name |
| 12838457 | CV378090 | single nucleotide variant | NM_001985.3(ETFB):c.498C>T (p.Ile166=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001491358]|not specified [RCV000427002] | likely benign | 19 | 51346999 | 51346999 | Human | 1 | name |
| 597883701 | CV3784294 | single nucleotide variant | NM_001985.3(ETFB):c.633T>G (p.Pro211=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005124582] | likely benign | 19 | 51345346 | 51345346 | Human | 1 | name |
| 597954994 | CV3786797 | single nucleotide variant | NM_001985.3(ETFB):c.444A>G (p.Thr148=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005121889] | likely benign | 19 | 51347053 | 51347053 | Human | 1 | name |
| 597918667 | CV3811564 | single nucleotide variant | NM_001985.3(ETFB):c.354C>T (p.Asp118=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005155395] | likely benign | 19 | 51353153 | 51353153 | Human | 1 | name |
| 597863641 | CV3814056 | single nucleotide variant | NM_001985.3(ETFB):c.306G>T (p.Leu102=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005147125] | likely benign | 19 | 51353201 | 51353201 | Human | 1 | name |
| 597927299 | CV3836902 | single nucleotide variant | NM_001985.3(ETFB):c.516C>T (p.Thr172=) | Multiple acyl-CoA dehydrogenase deficiency [RCV005185253] | likely benign | 19 | 51346981 | 51346981 | Human | 1 | name |
| 13537189 | CV507170 | single nucleotide variant | NM_001985.3(ETFB):c.582G>A (p.Thr194=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002063990]|not specified [RCV000610051] | likely benign | 19 | 51346915 | 51346915 | Human | 1 | name |
| 13530862 | CV508002 | single nucleotide variant | NM_001985.3(ETFB):c.471G>A (p.Gly157=) | not specified [RCV000606282] | likely benign | 19 | 51347026 | 51347026 | Human | | name |
| 15139725 | CV694510 | single nucleotide variant | NM_001985.3(ETFB):c.708C>T (p.Gly236=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001450172]|not specified [RCV004586970] | likely benign | 19 | 51345271 | 51345271 | Human | 1 | name |
| 15183296 | CV705206 | single nucleotide variant | NM_001985.3(ETFB):c.393T>C (p.Cys131=) | Multiple acyl-CoA dehydrogenase deficiency [RCV001489623] | likely benign | 19 | 51350374 | 51350374 | Human | 1 | name |
| 15197916 | CV728375 | single nucleotide variant | NM_001985.3(ETFB):c.618C>T (p.Ile206=) | Multiple acyl-CoA dehydrogenase deficiency [RCV000890204] | benign | 19 | 51345361 | 51345361 | Human | 1 | name |
| 15099530 | CV772884 | single nucleotide variant | NM_001985.3(ETFB):c.576C>T (p.Tyr192=) | Multiple acyl-CoA dehydrogenase deficiency [RCV002066158] | likely benign | 19 | 51346921 | 51346921 | Human | 1 | name |
| 126748456 | CV1013918 | duplication | NM_001985.3(ETFB):c.645dup (p.Val216fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV001315538]|not specified [RCV002222695] | uncertain significance | 19 | 51345333 | 51345334 | Human | 1 | name |
| 126726600 | CV1018623 | single nucleotide variant | NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) | Glutaric acidemia IIc [RCV004035727]|Multiple acyl-CoA dehydrogenase deficiency [RCV001332069]|not specified [RCV005408837] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 51353233 | 51353233 | Human | 1 | name |
| 126918090 | CV1051493 | single nucleotide variant | NM_001985.3(ETFB):c.134C>T (p.Ala45Val) | Multiple acyl-CoA dehydrogenase deficiency [RCV001372453]|not specified [RCV003331137] | uncertain significance | 19 | 51354232 | 51354232 | Human | 1 | name |
| 126919983 | CV1051494 | single nucleotide variant | NM_001985.3(ETFB):c.113T>C (p.Met38Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV001362604] | uncertain significance | 19 | 51354253 | 51354253 | Human | 1 | name |
| 151351413 | CV1321799 | single nucleotide variant | NM_001985.3(ETFB):c.241A>G (p.Met81Val) | not provided [RCV001806469] | uncertain significance | 19 | 51353266 | 51353266 | Human | | name |
| 151851486 | CV1362166 | single nucleotide variant | NM_001985.3(ETFB):c.293G>A (p.Arg98His) | Multiple acyl-CoA dehydrogenase deficiency [RCV001979000] | uncertain significance | 19 | 51353214 | 51353214 | Human | 1 | name |
| 151801581 | CV1375180 | single nucleotide variant | NM_001985.3(ETFB):c.184A>G (p.Ile62Val) | Inborn genetic diseases [RCV002562826]|Multiple acyl-CoA dehydrogenase deficiency [RCV001952981] | uncertain significance | 19 | 51354182 | 51354182 | Human | 2 | name |
| 151858255 | CV1402156 | single nucleotide variant | NM_001985.3(ETFB):c.133G>A (p.Ala45Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV002017443] | uncertain significance | 19 | 51354233 | 51354233 | Human | 1 | name |
| 151800380 | CV1442157 | single nucleotide variant | NM_001985.3(ETFB):c.247G>A (p.Ala83Thr) | Inborn genetic diseases [RCV004616959]|Multiple acyl-CoA dehydrogenase deficiency [RCV002011512] | uncertain significance | 19 | 51353260 | 51353260 | Human | 2 | name |
| 151742363 | CV1470284 | single nucleotide variant | NM_001985.3(ETFB):c.259A>G (p.Ile87Val) | Multiple acyl-CoA dehydrogenase deficiency [RCV001871140] | uncertain significance | 19 | 51353248 | 51353248 | Human | 1 | name |
| 151852144 | CV1476103 | single nucleotide variant | NM_001985.3(ETFB):c.142G>A (p.Glu48Lys) | Multiple acyl-CoA dehydrogenase deficiency [RCV001996102] | uncertain significance | 19 | 51354224 | 51354224 | Human | 1 | name |
| 155997808 | CV1872554 | single nucleotide variant | NM_001985.3(ETFB):c.254G>A (p.Arg85Gln) | Inborn genetic diseases [RCV003051206]|Multiple acyl-CoA dehydrogenase deficiency [RCV003076432] | uncertain significance | 19 | 51353253 | 51353253 | Human | 2 | name |
| 156247964 | CV1890641 | single nucleotide variant | NM_001985.3(ETFB):c.152G>A (p.Arg51Gln) | Inborn genetic diseases [RCV005333473]|Multiple acyl-CoA dehydrogenase deficiency [RCV003085997] | uncertain significance | 19 | 51354214 | 51354214 | Human | 2 | name |
| 156385399 | CV1891711 | single nucleotide variant | NM_001985.3(ETFB):c.190G>A (p.Val64Ile) | Inborn genetic diseases [RCV004978541]|Multiple acyl-CoA dehydrogenase deficiency [RCV003067514] | uncertain significance | 19 | 51354176 | 51354176 | Human | 2 | name |
| 156436122 | CV1937342 | single nucleotide variant | NM_001985.3(ETFB):c.166A>C (p.Lys56Gln) | Inborn genetic diseases [RCV004244558]|Multiple acyl-CoA dehydrogenase deficiency [RCV003105205] | uncertain significance | 19 | 51354200 | 51354200 | Human | 2 | name |
| 10056197 | CV200349 | single nucleotide variant | NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) | Chronic kidney disease [RCV001171332]|ETFB-related disorder [RCV003907648]|Inborn genetic diseases [RCV005328224]|Multiple acyl-CoA dehydrogenase deficiency [RCV001086047]|not provided [RCV000658852]|not specified [RCV000185874] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 51353215 | 51353215 | Human | 4 | name , trait , alternate_id |
| 10056196 | CV200350 | single nucleotide variant | NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) | Inborn genetic diseases [RCV002517821]|Multiple acyl-CoA dehydrogenase deficiency [RCV000814061]|not provided [RCV000415826] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 51353229 | 51353229 | Human | 2 | name |
| 10056201 | CV200351 | single nucleotide variant | NM_001985.3(ETFB):c.257G>C (p.Gly86Ala) | Multiple acyl-CoA dehydrogenase deficiency [RCV001985428] | likely benign|uncertain significance | 19 | 51353250 | 51353250 | Human | 1 | name |
| 10058778 | CV200352 | single nucleotide variant | NM_001985.3(ETFB):c.236T>A (p.Leu79Gln) | not provided [RCV000185881] | likely pathogenic | 19 | 51353271 | 51353271 | Human | | name |
| 10058777 | CV200353 | single nucleotide variant | NM_001985.3(ETFB):c.232G>A (p.Ala78Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV002513954]|not provided [RCV000185880]|not specified [RCV002222436] | likely pathogenic|uncertain significance | 19 | 51353275 | 51353275 | Human | 1 | name |
| 10058776 | CV200354 | single nucleotide variant | NM_001985.3(ETFB):c.227G>A (p.Arg76His) | Inborn genetic diseases [RCV002513953]|Multiple acyl-CoA dehydrogenase deficiency [RCV000548291]|not provided [RCV000185879] | likely pathogenic|uncertain significance | 19 | 51353280 | 51353280 | Human | 2 | name |
| 10058775 | CV200355 | single nucleotide variant | NM_001985.3(ETFB):c.160G>A (p.Glu54Lys) | not provided [RCV000185878] | likely pathogenic | 19 | 51354206 | 51354206 | Human | | name |
| 156104184 | CV2139814 | single nucleotide variant | NM_001985.3(ETFB):c.186C>G (p.Ile62Met) | Multiple acyl-CoA dehydrogenase deficiency [RCV003002331] | uncertain significance | 19 | 51354180 | 51354180 | Human | 1 | name |
| 156126622 | CV2144928 | single nucleotide variant | NM_001985.3(ETFB):c.257G>T (p.Gly86Val) | Multiple acyl-CoA dehydrogenase deficiency [RCV003003194] | uncertain significance | 19 | 51353250 | 51353250 | Human | 1 | name |
| 156012956 | CV2177189 | single nucleotide variant | NM_001985.3(ETFB):c.151C>G (p.Arg51Gly) | Multiple acyl-CoA dehydrogenase deficiency [RCV003035340] | uncertain significance | 19 | 51354215 | 51354215 | Human | 1 | name |
| 401949950 | CV2834363 | single nucleotide variant | NM_001985.3(ETFB):c.163A>T (p.Lys55Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476352] | likely pathogenic | 19 | 51354203 | 51354203 | Human | 1 | name |
| 401949957 | CV2834370 | single nucleotide variant | NM_001985.3(ETFB):c.124T>C (p.Cys42Arg) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476359] | pathogenic|likely pathogenic | 19 | 51354242 | 51354242 | Human | 1 | name |
| 401961162 | CV2844543 | single nucleotide variant | NM_001985.3(ETFB):c.254G>C (p.Arg85Pro) | not provided [RCV003480339] | uncertain significance | 19 | 51353253 | 51353253 | Human | | name |
| 402475520 | CV2976076 | duplication | NM_001985.3(ETFB):c.386dup (p.Asp129fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625201] | pathogenic | 19 | 51350380 | 51350381 | Human | 1 | name |
| 402478944 | CV3005384 | deletion | NM_001985.3(ETFB):c.362del (p.Leu121fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003625798] | pathogenic | 19 | 51353145 | 51353145 | Human | 1 | name |
| 405171724 | CV3151729 | single nucleotide variant | NM_001985.3(ETFB):c.178G>T (p.Glu60Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV003857880] | pathogenic|likely pathogenic | 19 | 51354188 | 51354188 | Human | 1 | name |
| 405758796 | CV3256037 | single nucleotide variant | NM_001985.3(ETFB):c.238G>A (p.Ala80Thr) | Inborn genetic diseases [RCV004383102] | uncertain significance | 19 | 51353269 | 51353269 | Human | 1 | name |
| 596926329 | CV3539809 | single nucleotide variant | NM_001985.3(ETFB):c.164A>G (p.Lys55Arg) | not provided [RCV004790800] | uncertain significance | 19 | 51354202 | 51354202 | Human | | name |
| 597751397 | CV3705778 | deletion | NM_001985.3(ETFB):c.632del (p.Pro211fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV005015863] | likely pathogenic | 19 | 51345347 | 51345347 | Human | 1 | name |
| 597751407 | CV3705781 | single nucleotide variant | NM_001985.3(ETFB):c.214C>T (p.Gln72Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV005015865] | likely pathogenic | 19 | 51354152 | 51354152 | Human | 1 | name |
| 597915921 | CV3779283 | single nucleotide variant | NM_001985.3(ETFB):c.281C>A (p.Ala94Glu) | Multiple acyl-CoA dehydrogenase deficiency [RCV005129424] | uncertain significance | 19 | 51353226 | 51353226 | Human | 1 | name |
| 597937081 | CV3787811 | single nucleotide variant | NM_001985.3(ETFB):c.297G>C (p.Leu99Phe) | Multiple acyl-CoA dehydrogenase deficiency [RCV005132690] | uncertain significance | 19 | 51353210 | 51353210 | Human | 1 | name |
| 13500706 | CV469260 | single nucleotide variant | NM_001985.3(ETFB):c.122T>C (p.Phe41Ser) | Multiple acyl-CoA dehydrogenase deficiency [RCV000538071] | uncertain significance | 19 | 51354244 | 51354244 | Human | 1 | name |
| 21066791 | CV797911 | single nucleotide variant | NM_001985.3(ETFB):c.236T>C (p.Leu79Pro) | not provided [RCV000996997] | uncertain significance | 19 | 51353271 | 51353271 | Human | | name |
| 38499700 | CV958725 | single nucleotide variant | NM_001985.3(ETFB):c.253C>T (p.Arg85Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV001244975] | pathogenic|likely pathogenic | 19 | 51353254 | 51353254 | Human | 1 | name |
| 38499683 | CV958726 | single nucleotide variant | NM_001985.3(ETFB):c.118C>A (p.Pro40Thr) | Inborn genetic diseases [RCV003166537]|Multiple acyl-CoA dehydrogenase deficiency [RCV001244954]|not provided [RCV005409788] | uncertain significance | 19 | 51354248 | 51354248 | Human | 2 | name |
| 150556392 | CV1303066 | single nucleotide variant | NM_001985.3(ETFB):c.448G>A (p.Ala150Thr) | not provided [RCV001774259] | uncertain significance | 19 | 51347049 | 51347049 | Human | | name |
| 151863662 | CV1339033 | single nucleotide variant | NM_001985.3(ETFB):c.706G>A (p.Gly236Ser) | Inborn genetic diseases [RCV003355704]|Multiple acyl-CoA dehydrogenase deficiency [RCV001997464] | uncertain significance | 19 | 51345273 | 51345273 | Human | 2 | name |
| 151834461 | CV1408323 | single nucleotide variant | NM_001985.3(ETFB):c.541G>A (p.Val181Met) | Multiple acyl-CoA dehydrogenase deficiency [RCV001935396]|not provided [RCV005253931] | uncertain significance | 19 | 51346956 | 51346956 | Human | 1 | name |
| 151722181 | CV1413975 | single nucleotide variant | NM_001985.3(ETFB):c.589A>G (p.Asn197Asp) | Multiple acyl-CoA dehydrogenase deficiency [RCV002020352] | uncertain significance | 19 | 51346908 | 51346908 | Human | 1 | name |
| 151845394 | CV1415024 | single nucleotide variant | NM_001985.3(ETFB):c.572G>A (p.Arg191His) | Multiple acyl-CoA dehydrogenase deficiency [RCV001903360] | uncertain significance | 19 | 51346925 | 51346925 | Human | 1 | name |
| 151762039 | CV1433769 | single nucleotide variant | NM_001985.3(ETFB):c.520C>G (p.Arg174Gly) | Multiple acyl-CoA dehydrogenase deficiency [RCV002024486] | uncertain significance | 19 | 51346977 | 51346977 | Human | 1 | name |
| 151794381 | CV1434264 | single nucleotide variant | NM_001985.3(ETFB):c.760C>T (p.Arg254Trp) | Multiple acyl-CoA dehydrogenase deficiency [RCV001866543] | uncertain significance | 19 | 51345219 | 51345219 | Human | 1 | name |
| 151783294 | CV1435079 | single nucleotide variant | NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) | Multiple acyl-CoA dehydrogenase deficiency [RCV001916076]|not provided [RCV005409849] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 19 | 51346926 | 51346926 | Human | 1 | name |
| 151869603 | CV1441386 | single nucleotide variant | NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) | Multiple acyl-CoA dehydrogenase deficiency [RCV001939613]|not provided [RCV004699584] | pathogenic|likely pathogenic|uncertain significance | 19 | 51347007 | 51347007 | Human | 1 | name |
| 151804102 | CV1444109 | single nucleotide variant | NM_001985.3(ETFB):c.676A>T (p.Ser226Cys) | Multiple acyl-CoA dehydrogenase deficiency [RCV001917978] | uncertain significance | 19 | 51345303 | 51345303 | Human | 1 | name |
| 151819416 | CV1450024 | single nucleotide variant | NM_001985.3(ETFB):c.316C>T (p.Arg106Trp) | Multiple acyl-CoA dehydrogenase deficiency [RCV001879069]|not provided [RCV002274230] | likely benign|uncertain significance | 19 | 51353191 | 51353191 | Human | 1 | name |
| 151815060 | CV1463300 | single nucleotide variant | NM_001985.3(ETFB):c.499G>C (p.Asp167His) | Inborn genetic diseases [RCV002552107]|Multiple acyl-CoA dehydrogenase deficiency [RCV001900330]|not provided [RCV003481154] | uncertain significance | 19 | 51346998 | 51346998 | Human | 2 | name |
| 155709763 | CV1775760 | single nucleotide variant | NM_001985.3(ETFB):c.611A>G (p.Lys204Arg) | Multiple acyl-CoA dehydrogenase deficiency [RCV002296145] | uncertain significance | 19 | 51345368 | 51345368 | Human | 1 | name |
| 156347440 | CV1868472 | single nucleotide variant | NM_001985.3(ETFB):c.375G>C (p.Gln125His) | Multiple acyl-CoA dehydrogenase deficiency [RCV003064593] | likely pathogenic|uncertain significance | 19 | 51353132 | 51353132 | Human | 1 | name |
| 156392703 | CV1869683 | single nucleotide variant | NM_001985.3(ETFB):c.631C>T (p.Pro211Ser) | Multiple acyl-CoA dehydrogenase deficiency [RCV003051501] | uncertain significance | 19 | 51345348 | 51345348 | Human | 1 | name |
| 156413060 | CV1887625 | single nucleotide variant | NM_001985.3(ETFB):c.353A>G (p.Asp118Gly) | Inborn genetic diseases [RCV003073141]|Multiple acyl-CoA dehydrogenase deficiency [RCV003073140] | uncertain significance | 19 | 51353154 | 51353154 | Human | 2 | name |
| 156027607 | CV1906812 | single nucleotide variant | NM_001985.3(ETFB):c.498C>G (p.Ile166Met) | Inborn genetic diseases [RCV003093042]|Multiple acyl-CoA dehydrogenase deficiency [RCV003100499] | uncertain significance | 19 | 51346999 | 51346999 | Human | 2 | name |
| 156150607 | CV1960908 | single nucleotide variant | NM_001985.3(ETFB):c.499G>A (p.Asp167Asn) | Multiple acyl-CoA dehydrogenase deficiency [RCV002572886] | uncertain significance | 19 | 51346998 | 51346998 | Human | 1 | name |
| 156352958 | CV1974748 | single nucleotide variant | NM_001985.3(ETFB):c.358G>T (p.Val120Leu) | Inborn genetic diseases [RCV004973492]|Multiple acyl-CoA dehydrogenase deficiency [RCV002601956] | uncertain significance | 19 | 51353149 | 51353149 | Human | 2 | name |
| 156414835 | CV1983030 | single nucleotide variant | NM_001985.3(ETFB):c.411G>A (p.Met137Ile) | Multiple acyl-CoA dehydrogenase deficiency [RCV002609387] | uncertain significance | 19 | 51350356 | 51350356 | Human | 1 | name |
| 10056200 | CV200346 | single nucleotide variant | NM_001985.3(ETFB):c.709G>A (p.Val237Ile) | Inborn genetic diseases [RCV002516967]|Multiple acyl-CoA dehydrogenase deficiency [RCV000809414]|not provided [RCV000416208] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 51345270 | 51345270 | Human | 2 | name |
| 10056199 | CV200347 | single nucleotide variant | NM_001985.3(ETFB):c.521G>A (p.Arg174His) | ETFB-related disorder [RCV003927723]|Multiple acyl-CoA dehydrogenase deficiency [RCV001088837]|not provided [RCV000224154] | likely benign | 19 | 51346976 | 51346976 | Human | 1 | name , trait , alternate_id |
| 156189028 | CV2030180 | single nucleotide variant | NM_001985.3(ETFB):c.326C>A (p.Ala109Asp) | Multiple acyl-CoA dehydrogenase deficiency [RCV002765851] | uncertain significance | 19 | 51353181 | 51353181 | Human | 1 | name |
| 156023686 | CV2079301 | single nucleotide variant | NM_001985.3(ETFB):c.454C>T (p.Gln152Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV002885076] | pathogenic | 19 | 51347043 | 51347043 | Human | 1 | name |
| 156365963 | CV2130633 | single nucleotide variant | NM_001985.3(ETFB):c.520C>T (p.Arg174Cys) | ETFB-related disorder [RCV003410002]|Multiple acyl-CoA dehydrogenase deficiency [RCV002967305] | uncertain significance | 19 | 51346977 | 51346977 | Human | 1 | name , trait , alternate_id |
| 156267220 | CV2140142 | single nucleotide variant | NM_001985.3(ETFB):c.395A>C (p.Asn132Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV003009137] | uncertain significance | 19 | 51350372 | 51350372 | Human | 1 | name |
| 156185588 | CV2152174 | single nucleotide variant | NM_001985.3(ETFB):c.622G>A (p.Val208Met) | Multiple acyl-CoA dehydrogenase deficiency [RCV003005842] | uncertain significance | 19 | 51345357 | 51345357 | Human | 1 | name |
| 155932105 | CV2156776 | single nucleotide variant | NM_001985.3(ETFB):c.715G>A (p.Val239Met) | Multiple acyl-CoA dehydrogenase deficiency [RCV003013691] | uncertain significance | 19 | 51345264 | 51345264 | Human | 1 | name |
| 156076221 | CV2165612 | single nucleotide variant | NM_001985.3(ETFB):c.334G>T (p.Ala112Ser) | Multiple acyl-CoA dehydrogenase deficiency [RCV003037728] | uncertain significance | 19 | 51353173 | 51353173 | Human | 1 | name |
| 156261744 | CV2395655 | single nucleotide variant | NM_001985.3(ETFB):c.581C>T (p.Thr194Met) | Inborn genetic diseases [RCV002769492]|not provided [RCV003481442] | uncertain significance | 19 | 51346916 | 51346916 | Human | 1 | name |
| 401771931 | CV2711980 | single nucleotide variant | NM_001985.3(ETFB):c.736G>A (p.Val246Met) | Inborn genetic diseases [RCV003261656] | uncertain significance | 19 | 51345243 | 51345243 | Human | 1 | name |
| 401929138 | CV2818696 | single nucleotide variant | NM_001985.3(ETFB):c.563A>G (p.Asn188Ser) | not provided [RCV003407089] | uncertain significance | 19 | 51346934 | 51346934 | Human | | name |
| 401910720 | CV2818697 | single nucleotide variant | NM_001985.3(ETFB):c.552C>G (p.Asp184Glu) | not provided [RCV003425389] | uncertain significance | 19 | 51346945 | 51346945 | Human | | name |
| 401949951 | CV2834364 | single nucleotide variant | NM_001985.3(ETFB):c.406C>T (p.Gln136Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476353] | pathogenic|likely pathogenic | 19 | 51350361 | 51350361 | Human | 1 | name |
| 404991073 | CV2859232 | single nucleotide variant | NM_001985.3(ETFB):c.706G>C (p.Gly236Arg) | Multiple acyl-CoA dehydrogenase deficiency [RCV003512823] | uncertain significance | 19 | 51345273 | 51345273 | Human | 1 | name |
| 8600309 | CV31755 | single nucleotide variant | NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) | Glutaric acidemia IIb [RCV000018200]|Multiple acyl-CoA dehydrogenase deficiency [RCV001235936]|not provided [RCV005409601] | pathogenic|likely pathogenic | 19 | 51347006 | 51347006 | Human | 1 | name , alternate_id |
| 8600310 | CV31757 | single nucleotide variant | NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) | Glutaric acidemia IIb [RCV000018202]|Multiple acyl-CoA dehydrogenase deficiency [RCV002513095]|not specified [RCV004525856] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 19 | 51350385 | 51350385 | Human | 1 | name , alternate_id |
| 405704674 | CV3225131 | single nucleotide variant | NM_001985.3(ETFB):c.564C>A (p.Asn188Lys) | Multiple acyl-CoA dehydrogenase deficiency [RCV003990087] | uncertain significance | 19 | 51346933 | 51346933 | Human | 1 | name |
| 407428380 | CV3410190 | single nucleotide variant | NM_001985.3(ETFB):c.632C>T (p.Pro211Leu) | not specified [RCV004587797] | uncertain significance | 19 | 51345347 | 51345347 | Human | | name |
| 407499156 | CV3438390 | single nucleotide variant | NM_001985.3(ETFB):c.701C>T (p.Thr234Met) | Inborn genetic diseases [RCV004622710] | uncertain significance | 19 | 51345278 | 51345278 | Human | 1 | name |
| 597677947 | CV3665194 | single nucleotide variant | NM_001985.3(ETFB):c.485T>C (p.Val162Ala) | Inborn genetic diseases [RCV004982261] | uncertain significance | 19 | 51347012 | 51347012 | Human | 1 | name |
| 597677955 | CV3665195 | single nucleotide variant | NM_001985.3(ETFB):c.670G>A (p.Val224Met) | Inborn genetic diseases [RCV004982262] | uncertain significance | 19 | 51345309 | 51345309 | Human | 1 | name |
| 597751390 | CV3705777 | single nucleotide variant | NM_001985.3(ETFB):c.694C>T (p.Gln232Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV005015862] | likely pathogenic | 19 | 51345285 | 51345285 | Human | 1 | name |
| 598193554 | CV3958358 | single nucleotide variant | NM_001985.3(ETFB):c.689C>T (p.Pro230Leu) | Inborn genetic diseases [RCV005335208] | uncertain significance | 19 | 51345290 | 51345290 | Human | 1 | name |
| 13501365 | CV470224 | single nucleotide variant | NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) | Multiple acyl-CoA dehydrogenase deficiency [RCV000540682]|not provided [RCV001551094] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 51346920 | 51346920 | Human | 1 | name |
| 13467646 | CV471276 | single nucleotide variant | NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) | Multiple acyl-CoA dehydrogenase deficiency [RCV000555412] | uncertain significance | 19 | 51345381 | 51345381 | Human | 1 | name |
| 13618288 | CV533393 | single nucleotide variant | NM_001985.3(ETFB):c.697C>T (p.Arg233Cys) | Multiple acyl-CoA dehydrogenase deficiency [RCV000634897]|not provided [RCV005004288] | uncertain significance | 19 | 51345282 | 51345282 | Human | 1 | name |
| 13814900 | CV572774 | single nucleotide variant | NM_001985.3(ETFB):c.565G>A (p.Glu189Lys) | Multiple acyl-CoA dehydrogenase deficiency [RCV000691202]|not provided [RCV001551852] | likely benign|uncertain significance | 19 | 51346932 | 51346932 | Human | 1 | name |
| 13832532 | CV583027 | single nucleotide variant | NM_001985.3(ETFB):c.373C>G (p.Gln125Glu) | not provided [RCV000723223] | uncertain significance | 19 | 51353134 | 51353134 | Human | | name |
| 14722879 | CV648437 | single nucleotide variant | NM_001985.3(ETFB):c.761G>A (p.Arg254Gln) | Multiple acyl-CoA dehydrogenase deficiency [RCV000814113] | uncertain significance | 19 | 51345218 | 51345218 | Human | 1 | name |
| 15138811 | CV689155 | single nucleotide variant | NM_001985.3(ETFB):c.452C>T (p.Ser151Phe) | Multiple acyl-CoA dehydrogenase deficiency [RCV000864900]|not provided [RCV002245716] | likely benign|uncertain significance | 19 | 51347045 | 51347045 | Human | 1 | name |
| 26903569 | CV848028 | single nucleotide variant | NM_001985.3(ETFB):c.632C>A (p.Pro211His) | Multiple acyl-CoA dehydrogenase deficiency [RCV001050507] | uncertain significance | 19 | 51345347 | 51345347 | Human | 1 | name |
| 38456735 | CV938841 | single nucleotide variant | NM_001985.3(ETFB):c.687C>A (p.Asp229Glu) | Multiple acyl-CoA dehydrogenase deficiency [RCV001210914] | uncertain significance | 19 | 51345292 | 51345292 | Human | 1 | name |
| 8640934 | CV99920 | single nucleotide variant | NM_001985.3(ETFB):c.461C>T (p.Thr154Met) | Multiple acyl-CoA dehydrogenase deficiency [RCV000991043]|not provided [RCV000676879]|not specified [RCV000079961] | benign | 19 | 51347036 | 51347036 | Human | 1 | name |
| 8640935 | CV99921 | single nucleotide variant | NM_001985.3(ETFB):c.728A>C (p.Glu243Ala) | not provided [RCV000079962] | uncertain significance | 19 | 51345251 | 51345251 | Human | | name |
| 150544133 | CV1313131 | deletion | NM_001985.3(ETFB):c.284_293del (p.Glu95fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV001783209] | pathogenic | 19 | 51353214 | 51353223 | Human | 1 | name |
| 151878783 | CV1409965 | microsatellite | NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del) | Multiple acyl-CoA dehydrogenase deficiency [RCV001940732] | uncertain significance | 19 | 51345363 | 51345365 | Human | | name |
| 401949954 | CV2834367 | microsatellite | NM_001985.3(ETFB):c.671_672del (p.Val224fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV003476356] | likely pathogenic | 19 | 51345307 | 51345308 | Human | | name |
| 156031223 | CV1899641 | deletion | NM_001985.3(ETFB):c.343_345del (p.Glu115del) | Multiple acyl-CoA dehydrogenase deficiency [RCV003100658]|not provided [RCV004790369] | uncertain significance | 19 | 51353162 | 51353164 | Human | 1 | name |
| 405873981 | CV3400398 | indel | NM_001985.3(ETFB):c.341_342delinsT (p.Lys114fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV004576401] | likely pathogenic | 19 | 51353165 | 51353166 | Human | | name |
| 10056194 | CV200357 | insertion | NM_001014763.1(ETFB):c.18_19insCTGTGG (p.Trp6_Val7insLeuTrp) | not specified [RCV000185871] | benign | 19 | 51354620 | 51354621 | Human | | name |
| 151748534 | CV1383251 | insertion | NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT (p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer) | Multiple acyl-CoA dehydrogenase deficiency [RCV001947884] | pathogenic | 19 | 51350340 | 51350341 | Human | 1 | name |
| 401929331 | CV2806838 | single nucleotide variant | NM_001135863.2(ETFBKMT):c.314+1G>A | not provided [RCV003390201] | likely benign | 12 | 31662268 | 31662268 | Human | | name |
| 401931987 | CV2806839 | single nucleotide variant | NM_001135863.2(ETFBKMT):c.354T>C (p.Ser118=) | not provided [RCV003391693] | likely benign | 12 | 31666126 | 31666126 | Human | | name |
| 156398922 | CV2194869 | single nucleotide variant | NM_001135863.2(ETFBKMT):c.709G>A (p.Val237Ile) | not specified [RCV004075402] | uncertain significance | 12 | 31667910 | 31667910 | Human | | name |
