| 12835559 | CV364469 | single nucleotide variant | NM_025207.5(FLAD1):c.-27A>G | not specified [RCV000421891] | likely benign | 1 | 154983668 | 154983668 | Human | | name |
| 12833161 | CV364466 | single nucleotide variant | NM_025207.5(FLAD1):c.-304C>T | not specified [RCV000417999] | likely benign | 1 | 154983391 | 154983391 | Human | | name |
| 14730447 | CV657098 | single nucleotide variant | NM_025207.4(FLAD1):c.-447C>T | not provided [RCV000835684] | benign | 1 | 154983248 | 154983248 | Human | | name |
| 152108912 | CV1530032 | single nucleotide variant | NM_025207.5(FLAD1):c.373-7C>T | not provided [RCV002196513] | likely benign | 1 | 154988098 | 154988098 | Human | | name |
| 156223319 | CV1965636 | single nucleotide variant | NM_025207.5(FLAD1):c.373-8A>G | not provided [RCV002596540] | uncertain significance | 1 | 154988097 | 154988097 | Human | | name |
| 156043225 | CV1977926 | single nucleotide variant | NM_025207.5(FLAD1):c.373-3C>A | not provided [RCV002590407] | uncertain significance | 1 | 154988102 | 154988102 | Human | | name |
| 156413516 | CV1979039 | single nucleotide variant | NM_025207.5(FLAD1):c.373-5C>T | not provided [RCV002608864] | likely benign | 1 | 154988100 | 154988100 | Human | | name |
| 156404058 | CV1986063 | single nucleotide variant | NM_025207.5(FLAD1):c.373-3C>G | not provided [RCV002657964] | likely pathogenic|uncertain significance | 1 | 154988102 | 154988102 | Human | | name |
| 152116951 | CV1535163 | single nucleotide variant | NM_025207.5(FLAD1):c.372+10G>A | not provided [RCV002097622] | likely benign | 1 | 154984076 | 154984076 | Human | | name |
| 152087386 | CV1536387 | single nucleotide variant | NM_025207.5(FLAD1):c.373-14C>G | not provided [RCV002171361] | likely benign | 1 | 154988091 | 154988091 | Human | | name |
| 152079565 | CV1620580 | single nucleotide variant | NM_025207.5(FLAD1):c.1365-9C>T | not provided [RCV002112565] | likely benign | 1 | 154990330 | 154990330 | Human | | name |
| 155698724 | CV1856808 | single nucleotide variant | NM_025207.5(FLAD1):c.1628+4A>G | not provided [RCV002444363] | not provided | 1 | 154992790 | 154992790 | Human | | name |
| 156148715 | CV1878820 | single nucleotide variant | NM_025207.5(FLAD1):c.1117+4G>C | not provided [RCV003056455] | uncertain significance | 1 | 154988853 | 154988853 | Human | | name |
| 156392417 | CV2005920 | single nucleotide variant | NM_025207.5(FLAD1):c.372+12A>C | not provided [RCV002680898] | likely benign | 1 | 154984078 | 154984078 | Human | | name |
| 156135364 | CV2181494 | single nucleotide variant | NM_025207.5(FLAD1):c.1266-1G>A | not provided [RCV003039846] | likely pathogenic | 1 | 154990158 | 154990158 | Human | | name |
| 156302938 | CV2189814 | single nucleotide variant | NM_025207.5(FLAD1):c.1117+1G>T | not provided [RCV003062047] | likely pathogenic | 1 | 154988850 | 154988850 | Human | | name |
| 405081173 | CV2941796 | single nucleotide variant | NM_025207.5(FLAD1):c.1555-1G>C | not provided [RCV003664603] | likely pathogenic | 1 | 154992712 | 154992712 | Human | | name |
| 405109795 | CV3136882 | single nucleotide variant | NM_025207.5(FLAD1):c.373-14C>T | not provided [RCV003836036] | likely benign | 1 | 154988091 | 154988091 | Human | | name |
| 405172388 | CV3151784 | single nucleotide variant | NM_025207.5(FLAD1):c.1118-8C>G | not provided [RCV003857935] | likely benign | 1 | 154989552 | 154989552 | Human | | name |
| 404993342 | CV3176440 | single nucleotide variant | NM_025207.5(FLAD1):c.1555-4C>T | FLAD1-related disorder [RCV003893579]|not provided [RCV003881872] | likely benign | 1 | 154992709 | 154992709 | Human | 1 | name , trait , alternate_id |
| 597909587 | CV3781942 | single nucleotide variant | NM_025207.5(FLAD1):c.372+14A>C | not provided [RCV005128434] | likely benign | 1 | 154984080 | 154984080 | Human | | name |
| 597870005 | CV3858551 | single nucleotide variant | NM_025207.5(FLAD1):c.1118-7T>A | not provided [RCV005197293] | likely benign | 1 | 154989553 | 154989553 | Human | | name |
| 12900875 | CV404944 | microsatellite | NM_025207.5(FLAD1):c.-294AG[1] | not specified [RCV000483385] | likely benign | 1 | 154983400 | 154983401 | Human | | name |
| 150414411 | CV1175757 | single nucleotide variant | NM_025207.5(FLAD1):c.372+186C>G | not provided [RCV001548116] | likely benign | 1 | 154984252 | 154984252 | Human | | name |
| 150417214 | CV1179122 | single nucleotide variant | NM_025207.5(FLAD1):c.373-516G>A | not provided [RCV001550021] | likely benign | 1 | 154987589 | 154987589 | Human | | name |
| 150422390 | CV1179123 | single nucleotide variant | NM_025207.5(FLAD1):c.1118-33C>T | not provided [RCV001552570] | likely benign | 1 | 154989527 | 154989527 | Human | | name |
| 150502690 | CV1241623 | single nucleotide variant | NM_025207.5(FLAD1):c.372+120C>A | not provided [RCV001657214] | benign | 1 | 154984186 | 154984186 | Human | | name |
| 150460533 | CV1253121 | single nucleotide variant | NM_025207.5(FLAD1):c.372+218G>C | not provided [RCV001669450] | benign | 1 | 154984284 | 154984284 | Human | | name |
| 152055595 | CV1662639 | single nucleotide variant | NM_025207.5(FLAD1):c.1265+15G>A | not provided [RCV002146182] | likely benign | 1 | 154989722 | 154989722 | Human | | name |
| 156416624 | CV1901599 | single nucleotide variant | NM_025207.5(FLAD1):c.1265+10C>T | not provided [RCV002610274] | likely benign | 1 | 154989717 | 154989717 | Human | | name |
| 156276347 | CV2004962 | single nucleotide variant | NM_025207.5(FLAD1):c.1364+12C>G | not provided [RCV002646697] | likely benign | 1 | 154990269 | 154990269 | Human | | name |
| 156367129 | CV2010836 | single nucleotide variant | NM_025207.5(FLAD1):c.1117+10T>A | not provided [RCV002676641] | likely benign | 1 | 154988859 | 154988859 | Human | | name |
| 156301610 | CV2013491 | single nucleotide variant | NM_025207.5(FLAD1):c.1265+14C>G | not provided [RCV002716087] | likely benign | 1 | 154989721 | 154989721 | Human | | name |
| 156235062 | CV2021542 | single nucleotide variant | NM_025207.5(FLAD1):c.1628+18A>G | not provided [RCV002745455] | likely benign | 1 | 154992804 | 154992804 | Human | | name |
| 156134636 | CV2113240 | single nucleotide variant | NM_025207.5(FLAD1):c.1629-10C>G | FLAD1-related disorder [RCV004756441]|not provided [RCV002928332] | likely benign | 1 | 154992892 | 154992892 | Human | 1 | name , trait , alternate_id |
| 405058501 | CV2928947 | deletion | NM_025207.5(FLAD1):c.1364+21del | not provided [RCV003580299] | likely benign | 1 | 154990276 | 154990276 | Human | | name |
| 404981767 | CV3121407 | single nucleotide variant | NM_025207.5(FLAD1):c.1554+12G>T | not provided [RCV003826206] | likely benign | 1 | 154990540 | 154990540 | Human | | name |
| 405012601 | CV3128206 | single nucleotide variant | NM_025207.5(FLAD1):c.1265+14C>T | not provided [RCV003829086] | likely benign | 1 | 154989721 | 154989721 | Human | | name |
| 405179155 | CV3147344 | single nucleotide variant | NM_025207.5(FLAD1):c.1628+13G>C | not provided [RCV003842246] | likely benign | 1 | 154992799 | 154992799 | Human | | name |
| 405174084 | CV3150519 | single nucleotide variant | NM_025207.5(FLAD1):c.1118-17C>A | not provided [RCV003841793] | likely benign | 1 | 154989543 | 154989543 | Human | | name |
| 405181306 | CV3159501 | single nucleotide variant | NM_025207.5(FLAD1):c.1364+12C>A | not provided [RCV003858751] | likely benign | 1 | 154990269 | 154990269 | Human | | name |
| 597886295 | CV3741808 | single nucleotide variant | NM_025207.5(FLAD1):c.1117+16A>G | not provided [RCV005070527] | likely benign | 1 | 154988865 | 154988865 | Human | | name |
| 597848950 | CV3746532 | single nucleotide variant | NM_025207.5(FLAD1):c.1365-13G>A | not provided [RCV005060351] | likely benign | 1 | 154990326 | 154990326 | Human | | name |
| 597971417 | CV3750722 | single nucleotide variant | NM_025207.5(FLAD1):c.1629-13C>T | not provided [RCV005084466] | likely benign | 1 | 154992889 | 154992889 | Human | | name |
| 597865828 | CV3834373 | single nucleotide variant | NM_025207.5(FLAD1):c.1117+20G>C | not provided [RCV005175740] | likely benign | 1 | 154988869 | 154988869 | Human | | name |
| 13537509 | CV498048 | single nucleotide variant | NM_025207.5(FLAD1):c.1555-19T>G | not provided [RCV002531713]|not specified [RCV000610502] | likely benign | 1 | 154992694 | 154992694 | Human | | name |
| 13540446 | CV498092 | single nucleotide variant | NM_025207.5(FLAD1):c.1555-10G>A | not specified [RCV000614710] | likely benign | 1 | 154992703 | 154992703 | Human | | name |
| 14730453 | CV657085 | single nucleotide variant | NM_025207.5(FLAD1):c.373-562T>G | not provided [RCV000835686] | benign | 1 | 154987543 | 154987543 | Human | | name |
| 14730450 | CV657088 | single nucleotide variant | NM_025207.5(FLAD1):c.373-699A>G | not provided [RCV000835685] | benign | 1 | 154987406 | 154987406 | Human | | name |
| 14730455 | CV657099 | single nucleotide variant | NM_025207.5(FLAD1):c.1555-76G>T | not provided [RCV000835687] | benign | 1 | 154992637 | 154992637 | Human | 2 | name |
| 14730455 | CV657099 | single nucleotide variant | NM_025207.5(FLAD1):c.1555-76G>T | not provided [RCV000835687] | benign | 1 | 154992637 | 154992638 | Human | 2 | name |
| 150418325 | CV1179124 | single nucleotide variant | NM_025207.5(FLAD1):c.1555-235C>A | not provided [RCV001550552] | likely benign | 1 | 154992478 | 154992478 | Human | | name |
| 150513688 | CV1229108 | single nucleotide variant | NM_025207.5(FLAD1):c.1117+123T>G | not provided [RCV001637950] | benign | 1 | 154988972 | 154988972 | Human | | name |
| 150468464 | CV1267938 | single nucleotide variant | NM_025207.5(FLAD1):c.1118-330A>G | not provided [RCV001694801] | benign | 1 | 154989230 | 154989230 | Human | | name |
| 150478552 | CV1281992 | single nucleotide variant | NM_025207.5(FLAD1):c.1117+133A>G | not provided [RCV001714314] | benign | 1 | 154988982 | 154988982 | Human | | name |
| 401933027 | CV2805994 | single nucleotide variant | NM_025207.5(FLAD1):c.1555-156A>G | not provided [RCV003409080] | likely benign | 1 | 154992557 | 154992557 | Human | | name |
| 152157111 | CV1586093 | deletion | NM_025207.5(FLAD1):c.372+24_372+25del | Myopathy with abnormal lipid metabolism [RCV005232890]|not provided [RCV002140290] | likely benign | 1 | 154984086 | 154984087 | Human | 1 | name |
| 405127601 | CV3013856 | single nucleotide variant | NM_025207.5(FLAD1):c.78G>A (p.Lys26=) | not provided [RCV003701364] | likely benign | 1 | 154983772 | 154983772 | Human | | name |
| 405071586 | CV3037492 | single nucleotide variant | NM_025207.5(FLAD1):c.36G>A (p.Arg12=) | not provided [RCV003698258] | likely benign | 1 | 154983730 | 154983730 | Human | | name |
| 597922632 | CV3777764 | deletion | NM_025207.5(FLAD1):c.1364+1_1364+3del | not provided [RCV005130488] | likely pathogenic | 1 | 154990258 | 154990260 | Human | | name |
| 152083987 | CV1533388 | single nucleotide variant | NM_025207.5(FLAD1):c.120C>G (p.Leu40=) | not provided [RCV002093225] | likely benign | 1 | 154983814 | 154983814 | Human | | name |
| 156202543 | CV1925753 | single nucleotide variant | NM_025207.5(FLAD1):c.216C>T (p.Pro72=) | not provided [RCV002643684] | likely benign | 1 | 154983910 | 154983910 | Human | | name |
| 156113201 | CV1998637 | single nucleotide variant | NM_025207.5(FLAD1):c.207G>C (p.Leu69=) | not provided [RCV002640024] | likely benign | 1 | 154983901 | 154983901 | Human | | name |
| 156098667 | CV2004798 | single nucleotide variant | NM_025207.5(FLAD1):c.282A>G (p.Glu94=) | not provided [RCV002639497] | likely benign | 1 | 154983976 | 154983976 | Human | | name |
| 405198199 | CV2973038 | single nucleotide variant | NM_025207.5(FLAD1):c.264C>T (p.Ala88=) | not provided [RCV003677904] | likely benign | 1 | 154983958 | 154983958 | Human | | name |
| 402482831 | CV3001337 | single nucleotide variant | NM_025207.5(FLAD1):c.189C>G (p.Pro63=) | not provided [RCV003686752] | likely benign | 1 | 154983883 | 154983883 | Human | | name |
| 405166177 | CV3059559 | single nucleotide variant | NM_025207.5(FLAD1):c.232C>T (p.Leu78=) | not provided [RCV003727414] | likely benign | 1 | 154983926 | 154983926 | Human | | name |
| 405245015 | CV3161675 | single nucleotide variant | NM_025207.5(FLAD1):c.198T>C (p.Pro66=) | not provided [RCV003868388] | likely benign | 1 | 154983892 | 154983892 | Human | | name |
| 597933077 | CV3742720 | single nucleotide variant | NM_025207.5(FLAD1):c.186C>G (p.Gly62=) | not provided [RCV005076159] | likely benign | 1 | 154983880 | 154983880 | Human | | name |
| 597911714 | CV3745647 | single nucleotide variant | NM_025207.5(FLAD1):c.207G>A (p.Leu69=) | not provided [RCV005073648] | likely benign | 1 | 154983901 | 154983901 | Human | | name |
| 597963632 | CV3754186 | single nucleotide variant | NM_025207.5(FLAD1):c.168C>T (p.Pro56=) | not provided [RCV005082293] | likely benign | 1 | 154983862 | 154983862 | Human | | name |
| 597860703 | CV3770132 | single nucleotide variant | NM_025207.5(FLAD1):c.192G>A (p.Gln64=) | not provided [RCV005105984] | likely benign | 1 | 154983886 | 154983886 | Human | | name |
| 126729830 | CV1019180 | duplication | NM_025207.5(FLAD1):c.210dup (p.Gly71fs) | not provided [RCV002995055] | pathogenic|uncertain significance | 1 | 154983903 | 154983904 | Human | | name |
| 151812374 | CV1359620 | single nucleotide variant | NM_025207.5(FLAD1):c.97G>A (p.Gly33Arg) | not provided [RCV001991957] | uncertain significance | 1 | 154983791 | 154983791 | Human | | name |
| 152108373 | CV1634855 | single nucleotide variant | NM_025207.5(FLAD1):c.609C>T (p.Pro203=) | FLAD1-related disorder [RCV003948884]|not provided [RCV002079911] | likely benign | 1 | 154988341 | 154988341 | Human | 1 | name , trait , alternate_id |
| 156321137 | CV1897849 | single nucleotide variant | NM_025207.5(FLAD1):c.696C>T (p.Gly232=) | not provided [RCV002579249] | likely benign|uncertain significance | 1 | 154988428 | 154988428 | Human | | name |
| 156444989 | CV1949043 | single nucleotide variant | NM_025207.5(FLAD1):c.387C>T (p.Asp129=) | not provided [RCV003115923] | likely benign | 1 | 154988119 | 154988119 | Human | | name |
| 156115216 | CV1958216 | single nucleotide variant | NM_025207.5(FLAD1):c.33G>C (p.Gln11His) | not provided [RCV002592919] | uncertain significance | 1 | 154983727 | 154983727 | Human | | name |
| 156394282 | CV1962616 | single nucleotide variant | NM_025207.5(FLAD1):c.441C>T (p.Cys147=) | not provided [RCV002584202] | likely benign | 1 | 154988173 | 154988173 | Human | | name |
| 156409285 | CV1965191 | single nucleotide variant | NM_025207.5(FLAD1):c.648C>A (p.Gly216=) | not provided [RCV002586772] | likely benign | 1 | 154988380 | 154988380 | Human | | name |
| 156312788 | CV2078978 | single nucleotide variant | NM_025207.5(FLAD1):c.414A>G (p.Thr138=) | not provided [RCV002898815] | likely benign | 1 | 154988146 | 154988146 | Human | | name |
| 156165317 | CV2090822 | single nucleotide variant | NM_025207.5(FLAD1):c.73G>C (p.Glu25Gln) | not provided [RCV002872813] | uncertain significance | 1 | 154983767 | 154983767 | Human | | name |
| 156267601 | CV2092304 | single nucleotide variant | NM_025207.5(FLAD1):c.711T>C (p.Thr237=) | not provided [RCV002895815] | likely benign | 1 | 154988443 | 154988443 | Human | | name |
| 156300465 | CV2104912 | single nucleotide variant | NM_025207.5(FLAD1):c.537C>T (p.Ile179=) | not provided [RCV002922549] | likely benign | 1 | 154988269 | 154988269 | Human | | name |
| 155961189 | CV2131846 | single nucleotide variant | NM_025207.5(FLAD1):c.360T>C (p.Asp120=) | not provided [RCV002995162] | likely benign | 1 | 154984054 | 154984054 | Human | | name |
| 401762466 | CV2723454 | single nucleotide variant | NM_025207.5(FLAD1):c.53G>A (p.Arg18His) | Inborn genetic diseases [RCV003300212] | uncertain significance | 1 | 154983747 | 154983747 | Human | 1 | name |
| 405029423 | CV3012501 | single nucleotide variant | NM_025207.5(FLAD1):c.435G>A (p.Gln145=) | not provided [RCV003695452] | likely benign | 1 | 154988167 | 154988167 | Human | | name |
| 405079059 | CV3031842 | single nucleotide variant | NM_025207.5(FLAD1):c.849G>A (p.Glu283=) | not provided [RCV003698739] | likely benign | 1 | 154988581 | 154988581 | Human | | name |
| 405091357 | CV3044865 | single nucleotide variant | NM_025207.5(FLAD1):c.339T>C (p.Ala113=) | not provided [RCV003717842] | likely benign | 1 | 154984033 | 154984033 | Human | | name |
| 405142471 | CV3046144 | single nucleotide variant | NM_025207.5(FLAD1):c.750C>T (p.Asn250=) | not provided [RCV003725707] | likely benign | 1 | 154988482 | 154988482 | Human | | name |
| 405227687 | CV3065597 | single nucleotide variant | NM_025207.5(FLAD1):c.525A>G (p.Thr175=) | not provided [RCV003734340] | likely benign | 1 | 154988257 | 154988257 | Human | | name |
| 405147559 | CV3152115 | single nucleotide variant | NM_025207.5(FLAD1):c.972G>A (p.Lys324=) | not provided [RCV003856086] | likely benign | 1 | 154988704 | 154988704 | Human | | name |
| 405191309 | CV3157077 | single nucleotide variant | NM_025207.5(FLAD1):c.664T>C (p.Leu222=) | not provided [RCV003859765] | likely benign | 1 | 154988396 | 154988396 | Human | | name |
| 405234700 | CV3168483 | single nucleotide variant | NM_025207.5(FLAD1):c.921G>A (p.Arg307=) | not provided [RCV003865957] | likely benign | 1 | 154988653 | 154988653 | Human | | name |
| 405272520 | CV3201334 | single nucleotide variant | NM_025207.5(FLAD1):c.675C>G (p.Ser225=) | FLAD1-related disorder [RCV003901398] | likely benign | 1 | 154988407 | 154988407 | Human | | name , trait , alternate_id |
| 408387358 | CV3527033 | single nucleotide variant | NM_025207.5(FLAD1):c.35G>A (p.Arg12Lys) | not provided [RCV004773335] | uncertain significance | 1 | 154983729 | 154983729 | Human | | name |
| 12843088 | CV364413 | single nucleotide variant | NM_025207.5(FLAD1):c.645A>G (p.Glu215=) | not provided [RCV000888470]|not specified [RCV000435598] | likely benign | 1 | 154988377 | 154988377 | Human | | name |
| 12840954 | CV364539 | single nucleotide variant | NM_025207.5(FLAD1):c.729C>T (p.Phe243=) | Myopathy with abnormal lipid metabolism [RCV002502520]|not provided [RCV000951235] | benign|likely benign | 1 | 154988461 | 154988461 | Human | 1 | name |
| 597653967 | CV3666326 | single nucleotide variant | NM_025207.5(FLAD1):c.85G>T (p.Val29Phe) | Inborn genetic diseases [RCV004975131] | uncertain significance | 1 | 154983779 | 154983779 | Human | 1 | name |
| 597923221 | CV3738593 | single nucleotide variant | NM_025207.5(FLAD1):c.717A>G (p.Gln239=) | not provided [RCV005075001] | likely benign | 1 | 154988449 | 154988449 | Human | | name |
| 597883695 | CV3745390 | single nucleotide variant | NM_025207.5(FLAD1):c.735G>A (p.Leu245=) | not provided [RCV005070226] | likely benign | 1 | 154988467 | 154988467 | Human | | name |
| 597961208 | CV3753194 | single nucleotide variant | NM_025207.5(FLAD1):c.951C>A (p.Gly317=) | not provided [RCV005081694] | likely benign | 1 | 154988683 | 154988683 | Human | | name |
| 597963385 | CV3753929 | single nucleotide variant | NM_025207.5(FLAD1):c.558G>A (p.Val186=) | not provided [RCV005082233] | likely benign | 1 | 154988290 | 154988290 | Human | | name |
| 597833350 | CV3831531 | single nucleotide variant | NM_025207.5(FLAD1):c.300T>G (p.Ser100=) | not provided [RCV005170733] | likely benign | 1 | 154983994 | 154983994 | Human | | name |
| 15143787 | CV780342 | single nucleotide variant | NM_025207.5(FLAD1):c.627C>T (p.Thr209=) | not provided [RCV000983385] | likely benign | 1 | 154988359 | 154988359 | Human | | name |
| 15141831 | CV780343 | single nucleotide variant | NM_025207.5(FLAD1):c.798G>A (p.Glu266=) | not provided [RCV000983049] | likely benign | 1 | 154988530 | 154988530 | Human | | name |
| 38467449 | CV920627 | single nucleotide variant | NM_025207.5(FLAD1):c.573G>C (p.Val191=) | not provided [RCV001200366] | likely benign | 1 | 154988305 | 154988305 | Human | | name |
| 126727856 | CV1015550 | deletion | NM_025207.5(FLAD1):c.825del (p.Ala276fs) | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency [RCV001332607] | pathogenic | 1 | 154988557 | 154988557 | Human | | name |
| 150338608 | CV1174243 | deletion | NM_025207.5(FLAD1):c.797del (p.Glu266fs) | Myopathy with abnormal lipid metabolism [RCV001542637] | pathogenic | 1 | 154988529 | 154988529 | Human | 1 | name |
| 150528078 | CV1302748 | single nucleotide variant | NM_025207.5(FLAD1):c.292A>G (p.Met98Val) | not provided [RCV001754971] | uncertain significance | 1 | 154983986 | 154983986 | Human | | name |
| 151731350 | CV1335555 | single nucleotide variant | NM_025207.5(FLAD1):c.203A>G (p.Asp68Gly) | not provided [RCV001847397] | uncertain significance | 1 | 154983897 | 154983897 | Human | | name |
| 151812724 | CV1371638 | single nucleotide variant | NM_025207.5(FLAD1):c.241G>T (p.Gly81Cys) | Inborn genetic diseases [RCV004616872]|not provided [RCV001933368] | uncertain significance | 1 | 154983935 | 154983935 | Human | 1 | name |
| 151721830 | CV1406548 | single nucleotide variant | NM_025207.5(FLAD1):c.136T>C (p.Trp46Arg) | not provided [RCV002003788] | uncertain significance | 1 | 154983830 | 154983830 | Human | | name |
| 151850180 | CV1464863 | single nucleotide variant | NM_025207.5(FLAD1):c.122C>T (p.Pro41Leu) | not provided [RCV001995858] | uncertain significance | 1 | 154983816 | 154983816 | Human | | name |
| 152109272 | CV1556501 | single nucleotide variant | NM_025207.5(FLAD1):c.1530A>G (p.Ala510=) | FLAD1-related disorder [RCV003893310]|not provided [RCV002096621] | likely benign | 1 | 154990504 | 154990504 | Human | 1 | name , trait , alternate_id |
| 152124926 | CV1646091 | single nucleotide variant | NM_025207.5(FLAD1):c.1002C>A (p.Pro334=) | not provided [RCV002217269] | likely benign | 1 | 154988734 | 154988734 | Human | | name |
| 155795094 | CV1858918 | single nucleotide variant | NM_025207.5(FLAD1):c.1552C>T (p.Leu518=) | not provided [RCV002463883] | not provided | 1 | 154990526 | 154990526 | Human | | name |
| 156252591 | CV1883939 | single nucleotide variant | NM_025207.5(FLAD1):c.1527C>T (p.Pro509=) | not provided [RCV003086158] | likely benign | 1 | 154990501 | 154990501 | Human | | name |
| 155978517 | CV1886246 | single nucleotide variant | NM_025207.5(FLAD1):c.1237C>T (p.Leu413=) | not provided [RCV003075533] | likely benign | 1 | 154989679 | 154989679 | Human | | name |
| 156342585 | CV1896982 | single nucleotide variant | NM_025207.5(FLAD1):c.1107C>T (p.Leu369=) | not provided [RCV003090447] | likely benign | 1 | 154988839 | 154988839 | Human | | name |
| 156304198 | CV1916306 | single nucleotide variant | NM_025207.5(FLAD1):c.1671G>A (p.Pro557=) | not provided [RCV002599318] | likely benign | 1 | 154992944 | 154992944 | Human | | name |
| 156139275 | CV1973525 | single nucleotide variant | NM_025207.5(FLAD1):c.277A>G (p.Arg93Gly) | not provided [RCV002593773] | uncertain significance | 1 | 154983971 | 154983971 | Human | | name |
| 156248950 | CV1988361 | single nucleotide variant | NM_025207.5(FLAD1):c.112C>G (p.Pro38Ala) | not provided [RCV002645831] | uncertain significance | 1 | 154983806 | 154983806 | Human | | name |
| 156323508 | CV1988598 | single nucleotide variant | NM_025207.5(FLAD1):c.1443G>A (p.Leu481=) | not provided [RCV002649405] | likely benign | 1 | 154990417 | 154990417 | Human | | name |
| 156350957 | CV1997583 | single nucleotide variant | NM_025207.5(FLAD1):c.1488T>C (p.Cys496=) | not provided [RCV002675589] | likely benign | 1 | 154990462 | 154990462 | Human | | name |
| 156176320 | CV2000449 | single nucleotide variant | NM_025207.5(FLAD1):c.157A>T (p.Thr53Ser) | not provided [RCV002642883] | uncertain significance | 1 | 154983851 | 154983851 | Human | | name |
| 156202340 | CV2010991 | single nucleotide variant | NM_025207.5(FLAD1):c.1242C>T (p.His414=) | not provided [RCV002700322] | likely benign | 1 | 154989684 | 154989684 | Human | | name |
| 156322188 | CV2014647 | single nucleotide variant | NM_025207.5(FLAD1):c.1758C>T (p.Arg586=) | not provided [RCV002672275] | likely benign | 1 | 154993031 | 154993031 | Human | | name |
| 156059879 | CV2034473 | single nucleotide variant | NM_025207.5(FLAD1):c.1381T>C (p.Leu461=) | not provided [RCV002736801] | likely benign | 1 | 154990355 | 154990355 | Human | | name |
| 156062745 | CV2057492 | single nucleotide variant | NM_025207.5(FLAD1):c.278G>A (p.Arg93Lys) | not provided [RCV002797155] | uncertain significance | 1 | 154983972 | 154983972 | Human | | name |
| 156105510 | CV2061195 | single nucleotide variant | NM_025207.5(FLAD1):c.1731G>A (p.Glu577=) | not provided [RCV002824713] | likely benign | 1 | 154993004 | 154993004 | Human | | name |
| 156308547 | CV2076116 | single nucleotide variant | NM_025207.5(FLAD1):c.1485C>G (p.Ser495=) | not provided [RCV002857530] | likely benign | 1 | 154990459 | 154990459 | Human | | name |
| 156220173 | CV2080823 | deletion | NM_025207.5(FLAD1):c.796del (p.Glu266fs) | not provided [RCV002853180] | pathogenic | 1 | 154988527 | 154988527 | Human | | name |
| 155949463 | CV2104729 | single nucleotide variant | NM_025207.5(FLAD1):c.130C>T (p.Leu44Phe) | not provided [RCV002904981] | uncertain significance | 1 | 154983824 | 154983824 | Human | | name |
| 156249274 | CV2119895 | single nucleotide variant | NM_025207.5(FLAD1):c.1632C>T (p.Tyr544=) | not provided [RCV002959149] | likely benign | 1 | 154992905 | 154992905 | Human | | name |
| 156013900 | CV2121259 | single nucleotide variant | NM_025207.5(FLAD1):c.1359C>A (p.Ile453=) | not provided [RCV002948428] | likely benign | 1 | 154990252 | 154990252 | Human | | name |
| 156301412 | CV2129514 | single nucleotide variant | NM_025207.5(FLAD1):c.275G>C (p.Gly92Ala) | not provided [RCV002962160] | uncertain significance | 1 | 154983969 | 154983969 | Human | | name |
| 156312257 | CV2143743 | single nucleotide variant | NM_025207.5(FLAD1):c.1518A>G (p.Pro506=) | not provided [RCV003011182] | likely benign | 1 | 154990492 | 154990492 | Human | | name |
| 156267841 | CV2167830 | single nucleotide variant | NM_025207.5(FLAD1):c.1581T>C (p.Asp527=) | not provided [RCV003026880] | likely benign | 1 | 154992739 | 154992739 | Human | | name |
| 11345085 | CV226510 | deletion | NM_025207.5(FLAD1):c.324del (p.Arg109fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV000223942] | pathogenic | 1 | 154984015 | 154984015 | Human | 1 | name |
| 11345087 | CV226512 | deletion | NM_025207.5(FLAD1):c.498del (p.Ser167fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV000223946] | pathogenic | 1 | 154988230 | 154988230 | Human | 1 | name |
| 11350543 | CV226516 | deletion | NM_025207.5(FLAD1):c.836del (p.Phe279fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV000223939]|Myopathy with abnormal lipid metabolism [RCV000234842] | pathogenic | 1 | 154988567 | 154988567 | Human | 2 | name |
| 329356481 | CV2460353 | single nucleotide variant | NM_025207.5(FLAD1):c.254A>G (p.Tyr85Cys) | Inborn genetic diseases [RCV003203300] | uncertain significance | 1 | 154983948 | 154983948 | Human | 1 | name |
| 401769579 | CV2731432 | single nucleotide variant | NM_025207.5(FLAD1):c.128G>A (p.Cys43Tyr) | Inborn genetic diseases [RCV003283754] | uncertain significance | 1 | 154983822 | 154983822 | Human | 1 | name |
| 405118920 | CV2955922 | duplication | NM_025207.5(FLAD1):c.390dup (p.Asn131fs) | not provided [RCV003671252] | pathogenic | 1 | 154988120 | 154988121 | Human | | name |
| 405193930 | CV2975173 | single nucleotide variant | NM_025207.5(FLAD1):c.1587G>A (p.Leu529=) | not provided [RCV003677464] | likely benign | 1 | 154992745 | 154992745 | Human | | name |
| 405252891 | CV3044095 | single nucleotide variant | NM_025207.5(FLAD1):c.1173G>A (p.Leu391=) | not provided [RCV003722349] | likely benign | 1 | 154989615 | 154989615 | Human | | name |
| 405210256 | CV3062268 | single nucleotide variant | NM_025207.5(FLAD1):c.1014C>T (p.Cys338=) | not provided [RCV003731904] | likely benign | 1 | 154988746 | 154988746 | Human | | name |
| 404977075 | CV3117478 | single nucleotide variant | NM_025207.5(FLAD1):c.1329T>C (p.Pro443=) | not provided [RCV003825250] | likely benign | 1 | 154990222 | 154990222 | Human | | name |
| 405163463 | CV3125254 | single nucleotide variant | NM_025207.5(FLAD1):c.1734C>T (p.Asn578=) | not provided [RCV003818526] | likely benign | 1 | 154993007 | 154993007 | Human | | name |
| 405125130 | CV3126413 | single nucleotide variant | NM_025207.5(FLAD1):c.1527C>G (p.Pro509=) | not provided [RCV003815165] | likely benign | 1 | 154990501 | 154990501 | Human | | name |
| 405029139 | CV3129882 | single nucleotide variant | NM_025207.5(FLAD1):c.1551G>A (p.Leu517=) | not provided [RCV003830480] | likely benign | 1 | 154990525 | 154990525 | Human | | name |
| 405142070 | CV3131233 | single nucleotide variant | NM_025207.5(FLAD1):c.1761A>G (p.Thr587=) | not provided [RCV003839273] | likely benign | 1 | 154993034 | 154993034 | Human | | name |
| 405150861 | CV3162899 | deletion | NM_025207.5(FLAD1):c.811del (p.Leu271fs) | not provided [RCV003856342] | pathogenic | 1 | 154988543 | 154988543 | Human | | name |
| 405151344 | CV3162934 | single nucleotide variant | NM_025207.5(FLAD1):c.1131G>A (p.Gly377=) | not provided [RCV003856377] | likely benign | 1 | 154989573 | 154989573 | Human | | name |
| 405133486 | CV3163898 | single nucleotide variant | NM_025207.5(FLAD1):c.1509C>T (p.Pro503=) | not provided [RCV003854886] | likely benign | 1 | 154990483 | 154990483 | Human | | name |
| 405081915 | CV3167083 | single nucleotide variant | NM_025207.5(FLAD1):c.1126T>C (p.Leu376=) | not provided [RCV003851662] | likely benign | 1 | 154989568 | 154989568 | Human | | name |
| 402499324 | CV3170412 | single nucleotide variant | NM_025207.5(FLAD1):c.1677G>A (p.Leu559=) | not provided [RCV003877784] | likely benign | 1 | 154992950 | 154992950 | Human | | name |
| 408384364 | CV3526907 | single nucleotide variant | NM_025207.5(FLAD1):c.270G>C (p.Gln90His) | not provided [RCV004772220] | uncertain significance | 1 | 154983964 | 154983964 | Human | | name |
| 12835777 | CV364471 | single nucleotide variant | NM_025207.5(FLAD1):c.1566C>T (p.Tyr522=) | not provided [RCV001721429] | likely benign | 1 | 154992724 | 154992724 | Human | | name |
| 12838751 | CV364516 | single nucleotide variant | NM_025207.5(FLAD1):c.1119G>A (p.Gly373=) | not provided [RCV000967807] | benign|likely benign|conflicting interpretations of pathogenicity | 1 | 154989561 | 154989561 | Human | | name |
| 12834227 | CV364517 | single nucleotide variant | NM_025207.5(FLAD1):c.1167C>T (p.Thr389=) | not specified [RCV000420002] | likely benign | 1 | 154989609 | 154989609 | Human | | name |
| 597956126 | CV3809496 | single nucleotide variant | NM_025207.5(FLAD1):c.155C>A (p.Ser52Ter) | not provided [RCV005162221] | uncertain significance | 1 | 154983849 | 154983849 | Human | | name |
| 597972348 | CV3812925 | single nucleotide variant | NM_025207.5(FLAD1):c.1110T>C (p.Ala370=) | not provided [RCV005167378] | likely benign | 1 | 154988842 | 154988842 | Human | | name |
| 597925172 | CV3863433 | single nucleotide variant | NM_025207.5(FLAD1):c.245T>C (p.Leu82Pro) | not provided [RCV005205758] | uncertain significance | 1 | 154983939 | 154983939 | Human | | name |
| 598201018 | CV3976821 | single nucleotide variant | NM_025207.5(FLAD1):c.268C>G (p.Gln90Glu) | Inborn genetic diseases [RCV005336758] | uncertain significance | 1 | 154983962 | 154983962 | Human | 1 | name |
| 13527195 | CV498054 | single nucleotide variant | NM_025207.5(FLAD1):c.1212C>T (p.Asn404=) | not provided [RCV000910167]|not specified [RCV000599660] | likely benign | 1 | 154989654 | 154989654 | Human | | name |
| 15142156 | CV731757 | single nucleotide variant | NM_025207.5(FLAD1):c.1599T>C (p.Phe533=) | not provided [RCV000899622] | likely benign | 1 | 154992757 | 154992757 | Human | | name |
| 15113316 | CV745717 | single nucleotide variant | NM_025207.5(FLAD1):c.1023C>T (p.Tyr341=) | not provided [RCV000917070] | likely benign | 1 | 154988755 | 154988755 | Human | | name |
| 15098827 | CV745718 | single nucleotide variant | NM_025207.5(FLAD1):c.1071C>T (p.Asn357=) | not provided [RCV000914338] | likely benign | 1 | 154988803 | 154988803 | Human | | name |
| 15172231 | CV761239 | single nucleotide variant | NM_025207.5(FLAD1):c.1150C>T (p.Leu384=) | not provided [RCV000928068] | likely benign | 1 | 154989592 | 154989592 | Human | | name |
| 15104933 | CV761240 | single nucleotide variant | NM_025207.5(FLAD1):c.1575C>A (p.Ile525=) | FLAD1-related disorder [RCV003925824]|not provided [RCV000937488] | benign|likely benign | 1 | 154992733 | 154992733 | Human | 1 | name , trait , alternate_id |
| 15185149 | CV761241 | single nucleotide variant | NM_025207.5(FLAD1):c.1614C>T (p.Ile538=) | not provided [RCV000930980] | likely benign | 1 | 154992772 | 154992772 | Human | | name |
| 150404762 | CV1175758 | single nucleotide variant | NM_025207.5(FLAD1):c.708C>A (p.Cys236Ter) | not provided [RCV001544567] | likely pathogenic | 1 | 154988440 | 154988440 | Human | | name |
| 150414233 | CV1196481 | deletion | NM_025207.5(FLAD1):c.1118-163_1118-162del | not provided [RCV001574870] | likely benign | 1 | 154989397 | 154989398 | Human | | name |
| 150465600 | CV1201103 | single nucleotide variant | NM_025207.5(FLAD1):c.683G>A (p.Arg228His) | Myopathy with abnormal lipid metabolism [RCV003146220]|not provided [RCV001587583] | likely benign|uncertain significance | 1 | 154988415 | 154988415 | Human | 1 | name |
| 150464567 | CV1241322 | duplication | NM_025207.5(FLAD1):c.1555-259_1555-256dup | not provided [RCV001649833] | benign | 1 | 154992453 | 154992454 | Human | | name |
| 150549458 | CV1299461 | single nucleotide variant | NM_025207.5(FLAD1):c.580G>T (p.Ala194Ser) | not provided [RCV001752387] | uncertain significance | 1 | 154988312 | 154988312 | Human | | name |
| 150550009 | CV1299776 | single nucleotide variant | NM_025207.5(FLAD1):c.917G>A (p.Arg306His) | not provided [RCV001752702] | uncertain significance | 1 | 154988649 | 154988649 | Human | | name |
| 150540554 | CV1314679 | duplication | NM_025207.5(FLAD1):c.1356dup (p.Ile453fs) | Myopathy with abnormal lipid metabolism [RCV001781112] | likely pathogenic | 1 | 154990248 | 154990249 | Human | | name |
| 151232835 | CV1316910 | single nucleotide variant | NM_025207.5(FLAD1):c.445G>A (p.Val149Ile) | Inborn genetic diseases [RCV004040823]|not provided [RCV001786730] | uncertain significance | 1 | 154988177 | 154988177 | Human | 1 | name |
| 151781121 | CV1341844 | single nucleotide variant | NM_025207.5(FLAD1):c.356G>A (p.Gly119Glu) | not provided [RCV001897248] | uncertain significance | 1 | 154984050 | 154984050 | Human | | name |
| 151780784 | CV1357677 | single nucleotide variant | NM_025207.5(FLAD1):c.931G>C (p.Gly311Arg) | not provided [RCV001875336] | uncertain significance | 1 | 154988663 | 154988663 | Human | | name |
| 151843484 | CV1408767 | single nucleotide variant | NM_025207.5(FLAD1):c.803T>G (p.Met268Arg) | Inborn genetic diseases [RCV002642107]|Myopathy with abnormal lipid metabolism [RCV005232768]|not provided [RCV002015622] | uncertain significance | 1 | 154988535 | 154988535 | Human | 2 | name |
| 151839726 | CV1415268 | single nucleotide variant | NM_025207.5(FLAD1):c.977C>A (p.Thr326Asn) | Inborn genetic diseases [RCV005343159]|not provided [RCV001921387] | uncertain significance | 1 | 154988709 | 154988709 | Human | 1 | name |
| 151887436 | CV1471983 | single nucleotide variant | NM_025207.5(FLAD1):c.751G>A (p.Val251Ile) | not provided [RCV002000881] | uncertain significance | 1 | 154988483 | 154988483 | Human | | name |
| 151808888 | CV1476329 | single nucleotide variant | NM_025207.5(FLAD1):c.363G>T (p.Glu121Asp) | Inborn genetic diseases [RCV002548030]|not provided [RCV001899754] | uncertain significance | 1 | 154984057 | 154984057 | Human | 1 | name |
| 151884150 | CV1476833 | single nucleotide variant | NM_025207.5(FLAD1):c.347T>C (p.Ile116Thr) | Inborn genetic diseases [RCV002553537]|not provided [RCV001887088] | uncertain significance | 1 | 154984041 | 154984041 | Human | 1 | name |
| 151794313 | CV1482708 | single nucleotide variant | NM_025207.5(FLAD1):c.410G>A (p.Arg137Gln) | not provided [RCV002047397] | uncertain significance | 1 | 154988142 | 154988142 | Human | | name |
| 151881319 | CV1499846 | single nucleotide variant | NM_025207.5(FLAD1):c.797A>G (p.Glu266Gly) | not provided [RCV001886522] | uncertain significance | 1 | 154988529 | 154988529 | Human | | name |
| 152105868 | CV1609554 | single nucleotide variant | NM_025207.5(FLAD1):c.785G>A (p.Arg262Gln) | not provided [RCV002115926] | benign | 1 | 154988517 | 154988517 | Human | | name |
| 152161685 | CV1619505 | single nucleotide variant | NM_025207.5(FLAD1):c.503A>T (p.Asn168Ile) | not provided [RCV002159752] | likely benign|conflicting interpretations of pathogenicity | 1 | 154988235 | 154988235 | Human | | name |
| 152074891 | CV1652834 | single nucleotide variant | NM_025207.5(FLAD1):c.443G>A (p.Arg148Gln) | not provided [RCV002148568] | likely benign|conflicting interpretations of pathogenicity | 1 | 154988175 | 154988175 | Human | | name |
| 153349842 | CV1693160 | single nucleotide variant | NM_025207.5(FLAD1):c.503A>G (p.Asn168Ser) | not provided [RCV002276273] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 154988235 | 154988235 | Human | | name |
| 155749357 | CV1775610 | single nucleotide variant | NM_025207.5(FLAD1):c.893C>T (p.Ala298Val) | not provided [RCV002304564] | uncertain significance | 1 | 154988625 | 154988625 | Human | | name |
| 155998859 | CV1872653 | single nucleotide variant | NM_025207.5(FLAD1):c.416T>C (p.Leu139Pro) | not provided [RCV003076482] | uncertain significance | 1 | 154988148 | 154988148 | Human | | name |
| 156404868 | CV1883573 | single nucleotide variant | NM_025207.5(FLAD1):c.880G>A (p.Ala294Thr) | not provided [RCV003069848] | uncertain significance | 1 | 154988612 | 154988612 | Human | | name |
| 156376634 | CV1896109 | single nucleotide variant | NM_025207.5(FLAD1):c.320C>T (p.Pro107Leu) | Inborn genetic diseases [RCV005333489]|not provided [RCV003092928] | uncertain significance | 1 | 154984014 | 154984014 | Human | 1 | name |
| 155953523 | CV1896509 | single nucleotide variant | NM_025207.5(FLAD1):c.809G>A (p.Gly270Glu) | not provided [RCV003095460] | uncertain significance | 1 | 154988541 | 154988541 | Human | | name |
| 156366470 | CV1908529 | single nucleotide variant | NM_025207.5(FLAD1):c.776A>G (p.Glu259Gly) | not provided [RCV002582098] | uncertain significance | 1 | 154988508 | 154988508 | Human | | name |
| 156304798 | CV1916360 | single nucleotide variant | NM_025207.5(FLAD1):c.682C>T (p.Arg228Cys) | not provided [RCV002599347] | uncertain significance | 1 | 154988414 | 154988414 | Human | | name |
| 156438803 | CV1943353 | single nucleotide variant | NM_025207.5(FLAD1):c.313C>T (p.Leu105Phe) | not provided [RCV003108750] | uncertain significance | 1 | 154984007 | 154984007 | Human | | name |
| 156093456 | CV1960102 | single nucleotide variant | NM_025207.5(FLAD1):c.506G>A (p.Arg169His) | Inborn genetic diseases [RCV002582741]|not provided [RCV002570307] | uncertain significance | 1 | 154988238 | 154988238 | Human | 1 | name |
| 155996436 | CV1986923 | single nucleotide variant | NM_025207.5(FLAD1):c.916C>T (p.Arg306Cys) | Inborn genetic diseases [RCV004973514]|not provided [RCV002618252] | uncertain significance | 1 | 154988648 | 154988648 | Human | 1 | name |
| 156401202 | CV1992030 | single nucleotide variant | NM_025207.5(FLAD1):c.538G>A (p.Gly180Ser) | not provided [RCV002605622] | uncertain significance | 1 | 154988270 | 154988270 | Human | | name |
| 156232820 | CV1999440 | single nucleotide variant | NM_025207.5(FLAD1):c.940C>A (p.Pro314Thr) | not provided [RCV002667646] | uncertain significance | 1 | 154988672 | 154988672 | Human | | name |
| 156364507 | CV2003467 | single nucleotide variant | NM_025207.5(FLAD1):c.689A>C (p.His230Pro) | Inborn genetic diseases [RCV004066863]|not provided [RCV002676466] | uncertain significance | 1 | 154988421 | 154988421 | Human | 1 | name |
| 156280768 | CV2005238 | single nucleotide variant | NM_025207.5(FLAD1):c.982G>T (p.Asp328Tyr) | not provided [RCV002646835] | uncertain significance | 1 | 154988714 | 154988714 | Human | | name |
| 156352378 | CV2015371 | single nucleotide variant | NM_025207.5(FLAD1):c.532G>A (p.Gly178Ser) | not provided [RCV002720277] | uncertain significance | 1 | 154988264 | 154988264 | Human | | name |
| 155943164 | CV2039342 | single nucleotide variant | NM_025207.5(FLAD1):c.742G>A (p.Val248Ile) | Inborn genetic diseases [RCV004973618]|not provided [RCV002775327] | uncertain significance | 1 | 154988474 | 154988474 | Human | 1 | name |
| 156095261 | CV2050833 | single nucleotide variant | NM_025207.5(FLAD1):c.362A>T (p.Glu121Val) | not provided [RCV002824343] | uncertain significance | 1 | 154984056 | 154984056 | Human | | name |
| 156120233 | CV2128491 | deletion | NM_025207.5(FLAD1):c.1475del (p.Asp492fs) | not provided [RCV002953468] | pathogenic | 1 | 154990449 | 154990449 | Human | | name |
| 156029739 | CV2135404 | single nucleotide variant | NM_025207.5(FLAD1):c.712G>A (p.Gly238Ser) | not provided [RCV002999089] | uncertain significance | 1 | 154988444 | 154988444 | Human | | name |
| 156031639 | CV2142080 | single nucleotide variant | NM_025207.5(FLAD1):c.775G>A (p.Glu259Lys) | not provided [RCV002976631] | uncertain significance | 1 | 154988507 | 154988507 | Human | | name |
| 156038133 | CV2143308 | single nucleotide variant | NM_025207.5(FLAD1):c.451G>C (p.Val151Leu) | not provided [RCV002999412] | uncertain significance | 1 | 154988183 | 154988183 | Human | | name |
| 155960127 | CV2204090 | single nucleotide variant | NM_025207.5(FLAD1):c.308C>T (p.Ser103Phe) | Inborn genetic diseases [RCV002686533] | uncertain significance | 1 | 154984002 | 154984002 | Human | 1 | name |
| 156162381 | CV2246511 | single nucleotide variant | NM_025207.5(FLAD1):c.308C>G (p.Ser103Cys) | Inborn genetic diseases [RCV002787569] | uncertain significance | 1 | 154984002 | 154984002 | Human | 1 | name |
| 11345037 | CV226513 | single nucleotide variant | NM_025207.5(FLAD1):c.508T>C (p.Phe170Leu) | Multiple acyl-CoA dehydrogenase deficiency [RCV000223950] | likely benign | 1 | 154988240 | 154988240 | Human | 1 | name |
| 155996615 | CV2277423 | single nucleotide variant | NM_025207.5(FLAD1):c.299C>T (p.Ser100Phe) | Inborn genetic diseases [RCV002864973] | uncertain significance | 1 | 154983993 | 154983993 | Human | 1 | name |
| 156171625 | CV2312594 | single nucleotide variant | NM_025207.5(FLAD1):c.703C>G (p.Pro235Ala) | Inborn genetic diseases [RCV002916588] | uncertain significance | 1 | 154988435 | 154988435 | Human | 1 | name |
| 329847647 | CV2524394 | single nucleotide variant | NM_025207.5(FLAD1):c.788G>A (p.Arg263Gln) | not provided [RCV003227286] | uncertain significance | 1 | 154988520 | 154988520 | Human | | name |
| 401762251 | CV2723373 | single nucleotide variant | NM_025207.5(FLAD1):c.823C>T (p.Pro275Ser) | Inborn genetic diseases [RCV003300137] | uncertain significance | 1 | 154988555 | 154988555 | Human | 1 | name |
| 405780566 | CV3260766 | single nucleotide variant | NM_025207.5(FLAD1):c.353T>A (p.Val118Asp) | Inborn genetic diseases [RCV004386701] | uncertain significance | 1 | 154984047 | 154984047 | Human | 1 | name |
| 405780572 | CV3260767 | single nucleotide variant | NM_025207.5(FLAD1):c.419G>A (p.Arg140His) | Inborn genetic diseases [RCV004386702] | uncertain significance | 1 | 154988151 | 154988151 | Human | 1 | name |
| 405780579 | CV3260768 | single nucleotide variant | NM_025207.5(FLAD1):c.452T>C (p.Val151Ala) | Inborn genetic diseases [RCV004386703] | uncertain significance | 1 | 154988184 | 154988184 | Human | 1 | name |
| 405780586 | CV3260769 | single nucleotide variant | NM_025207.5(FLAD1):c.713G>A (p.Gly238Asp) | Inborn genetic diseases [RCV004386704] | uncertain significance | 1 | 154988445 | 154988445 | Human | 1 | name |
| 405780598 | CV3260771 | single nucleotide variant | NM_025207.5(FLAD1):c.897G>T (p.Glu299Asp) | Inborn genetic diseases [RCV004386706] | uncertain significance | 1 | 154988629 | 154988629 | Human | 1 | name |
| 405780603 | CV3260772 | single nucleotide variant | NM_025207.5(FLAD1):c.926G>A (p.Gly309Asp) | Inborn genetic diseases [RCV004386707] | uncertain significance | 1 | 154988658 | 154988658 | Human | 1 | name |
| 407502951 | CV3435996 | single nucleotide variant | NM_025207.5(FLAD1):c.746G>A (p.Arg249Gln) | Inborn genetic diseases [RCV004623640]|not provided [RCV004791699] | uncertain significance | 1 | 154988478 | 154988478 | Human | 1 | name |
| 408389434 | CV3524580 | single nucleotide variant | NM_025207.5(FLAD1):c.844A>G (p.Lys282Glu) | not provided [RCV004769475] | uncertain significance | 1 | 154988576 | 154988576 | Human | | name |
| 596931285 | CV3531620 | single nucleotide variant | NM_025207.5(FLAD1):c.853T>C (p.Tyr285His) | not provided [RCV004781182] | uncertain significance | 1 | 154988585 | 154988585 | Human | | name |
| 596932469 | CV3539089 | single nucleotide variant | NM_025207.5(FLAD1):c.784C>T (p.Arg262Trp) | not provided [RCV004793215] | uncertain significance | 1 | 154988516 | 154988516 | Human | | name |
| 596928458 | CV3541498 | single nucleotide variant | NM_025207.5(FLAD1):c.442C>T (p.Arg148Ter) | Myopathy with abnormal lipid metabolism [RCV004797370] | pathogenic | 1 | 154988174 | 154988174 | Human | 1 | name |
| 12742645 | CV359254 | single nucleotide variant | NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter) | Myopathy with abnormal lipid metabolism [RCV001542550]|not provided [RCV000414135] | pathogenic | 1 | 154988140 | 154988140 | Human | 1 | name |
| 597653960 | CV3666325 | single nucleotide variant | NM_025207.5(FLAD1):c.755A>G (p.Tyr252Cys) | Inborn genetic diseases [RCV004975130] | uncertain significance | 1 | 154988487 | 154988487 | Human | 1 | name |
| 597944356 | CV3776574 | single nucleotide variant | NM_025207.5(FLAD1):c.380C>G (p.Thr127Ser) | not provided [RCV005119430] | uncertain significance | 1 | 154988112 | 154988112 | Human | | name |
| 597862309 | CV3822643 | single nucleotide variant | NM_025207.5(FLAD1):c.709A>G (p.Thr237Ala) | not provided [RCV005175174] | uncertain significance | 1 | 154988441 | 154988441 | Human | | name |
| 597947332 | CV3841907 | single nucleotide variant | NM_025207.5(FLAD1):c.524C>T (p.Thr175Ile) | not provided [RCV005189341] | uncertain significance | 1 | 154988256 | 154988256 | Human | | name |
| 597965166 | CV3848277 | single nucleotide variant | NM_025207.5(FLAD1):c.922C>T (p.Leu308Phe) | not provided [RCV005194157] | uncertain significance | 1 | 154988654 | 154988654 | Human | | name |
| 598129249 | CV3888543 | single nucleotide variant | NM_025207.5(FLAD1):c.647G>A (p.Gly216Asp) | not provided [RCV005244717] | uncertain significance | 1 | 154988379 | 154988379 | Human | | name |
| 598201021 | CV3976822 | single nucleotide variant | NM_025207.5(FLAD1):c.409C>T (p.Arg137Trp) | Inborn genetic diseases [RCV005336759] | uncertain significance | 1 | 154988141 | 154988141 | Human | 1 | name |
| 15145517 | CV731755 | single nucleotide variant | NM_025207.5(FLAD1):c.640G>A (p.Gly214Arg) | FLAD1-related disorder [RCV003912855]|not provided [RCV000900174] | likely benign | 1 | 154988372 | 154988372 | Human | 1 | name , trait , alternate_id |
| 15170810 | CV731756 | single nucleotide variant | NM_025207.5(FLAD1):c.787C>T (p.Arg263Trp) | FLAD1-related disorder [RCV003932899]|not provided [RCV000905338] | likely benign|conflicting interpretations of pathogenicity | 1 | 154988519 | 154988519 | Human | 1 | name , trait , alternate_id |
| 21070479 | CV789852 | single nucleotide variant | NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) | Multiple acyl-CoA dehydrogenase deficiency [RCV000986423]|Myopathy with abnormal lipid metabolism [RCV004689943]|not provided [RCV001382523] | pathogenic | 1 | 154988477 | 154988477 | Human | 2 | name |
| 126729827 | CV1019181 | single nucleotide variant | NM_025207.5(FLAD1):c.1762T>C (p.Ter588Arg) | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency [RCV001333257] | pathogenic | 1 | 154993035 | 154993035 | Human | | name |
| 8574914 | CV109253 | single nucleotide variant | NM_001184891.1(FLAD1):c.733C>T (p.Leu245=) | Lung cancer [RCV000089778] | uncertain significance | 1 | 154988756 | 154988756 | Human | | name |
| 150520320 | CV1289533 | single nucleotide variant | NM_025207.5(FLAD1):c.1610G>C (p.Cys537Ser) | Myopathy with abnormal lipid metabolism [RCV001728178]|not provided [RCV002539782] | uncertain significance | 1 | 154992768 | 154992768 | Human | 1 | name |
| 150545524 | CV1293837 | single nucleotide variant | NM_025207.5(FLAD1):c.1157C>T (p.Thr386Ile) | not provided [RCV001763018] | uncertain significance | 1 | 154989599 | 154989599 | Human | | name |
| 151787908 | CV1386834 | single nucleotide variant | NM_025207.5(FLAD1):c.1589G>A (p.Arg530His) | not provided [RCV001931112]|not specified [RCV004690175] | uncertain significance | 1 | 154992747 | 154992747 | Human | | name |
| 151765483 | CV1393728 | single nucleotide variant | NM_025207.5(FLAD1):c.1468C>T (p.Arg490Trp) | Inborn genetic diseases [RCV002579637]|not provided [RCV002008335] | uncertain significance | 1 | 154990442 | 154990442 | Human | 1 | name |
| 151738774 | CV1397743 | single nucleotide variant | NM_025207.5(FLAD1):c.1049C>T (p.Ser350Leu) | Inborn genetic diseases [RCV003250339]|not provided [RCV001985029] | uncertain significance | 1 | 154988781 | 154988781 | Human | 1 | name |
| 151892813 | CV1399076 | single nucleotide variant | NM_025207.5(FLAD1):c.1649G>A (p.Arg550Gln) | Inborn genetic diseases [RCV003365483]|not provided [RCV001944507] | uncertain significance | 1 | 154992922 | 154992922 | Human | 1 | name |
| 151774542 | CV1413448 | single nucleotide variant | NM_025207.5(FLAD1):c.1189A>G (p.Thr397Ala) | not provided [RCV001971505] | uncertain significance | 1 | 154989631 | 154989631 | Human | | name |
| 151880601 | CV1421480 | single nucleotide variant | NM_025207.5(FLAD1):c.1664G>A (p.Arg555Gln) | Inborn genetic diseases [RCV002552803]|not provided [RCV001886423] | likely benign|uncertain significance | 1 | 154992937 | 154992937 | Human | 1 | name |
| 151721609 | CV1421791 | single nucleotide variant | NM_025207.5(FLAD1):c.1033C>T (p.Arg345Cys) | Inborn genetic diseases [RCV002555714]|not provided [RCV001909819]|not specified [RCV004690168] | uncertain significance | 1 | 154988765 | 154988765 | Human | 1 | name |
| 151831934 | CV1439077 | single nucleotide variant | NM_025207.5(FLAD1):c.1220A>T (p.Lys407Ile) | not provided [RCV001976734] | uncertain significance | 1 | 154989662 | 154989662 | Human | | name |
| 151781807 | CV1446416 | single nucleotide variant | NM_025207.5(FLAD1):c.1213G>A (p.Gly405Arg) | not provided [RCV001989207] | uncertain significance | 1 | 154989655 | 154989655 | Human | | name |
| 151741872 | CV1470143 | single nucleotide variant | NM_025207.5(FLAD1):c.1054G>A (p.Val352Ile) | not provided [RCV001871095] | uncertain significance | 1 | 154988786 | 154988786 | Human | | name |
| 152155675 | CV1620561 | single nucleotide variant | NM_025207.5(FLAD1):c.1309C>T (p.Arg437Cys) | not provided [RCV002122379] | likely benign|conflicting interpretations of pathogenicity | 1 | 154990202 | 154990202 | Human | | name |
| 152079792 | CV1620613 | single nucleotide variant | NM_025207.5(FLAD1):c.1495T>C (p.Cys499Arg) | not provided [RCV002112591] | likely benign | 1 | 154990469 | 154990469 | Human | | name |
| 155741368 | CV1779971 | single nucleotide variant | NM_025207.5(FLAD1):c.1711C>T (p.Arg571Cys) | not specified [RCV002302575] | uncertain significance | 1 | 154992984 | 154992984 | Human | | name |
| 155984097 | CV1897075 | single nucleotide variant | NM_025207.5(FLAD1):c.1469G>A (p.Arg490Gln) | Inborn genetic diseases [RCV003097523]|not provided [RCV003087262] | uncertain significance | 1 | 154990443 | 154990443 | Human | 1 | name |
| 156086071 | CV1898974 | single nucleotide variant | NM_025207.5(FLAD1):c.1186C>T (p.Leu396Phe) | Inborn genetic diseases [RCV003080041]|not provided [RCV003080042] | uncertain significance | 1 | 154989628 | 154989628 | Human | 1 | name |
| 156074491 | CV1904090 | single nucleotide variant | NM_025207.5(FLAD1):c.1229C>G (p.Thr410Ser) | not provided [RCV002591374] | uncertain significance | 1 | 154989671 | 154989671 | Human | | name |
| 155930576 | CV1908988 | single nucleotide variant | NM_025207.5(FLAD1):c.1712G>A (p.Arg571His) | Inborn genetic diseases [RCV002591601]|not provided [RCV002614972] | uncertain significance | 1 | 154992985 | 154992985 | Human | 1 | name |
| 156418818 | CV1918807 | single nucleotide variant | NM_025207.5(FLAD1):c.1646G>A (p.Ser549Asn) | not provided [RCV002612028] | uncertain significance | 1 | 154992919 | 154992919 | Human | | name |
| 155952522 | CV1922048 | single nucleotide variant | NM_025207.5(FLAD1):c.1441C>A (p.Leu481Met) | not provided [RCV002616300] | uncertain significance | 1 | 154990415 | 154990415 | Human | | name |
| 156436128 | CV1937384 | single nucleotide variant | NM_025207.5(FLAD1):c.1000C>G (p.Pro334Ala) | not provided [RCV003105212] | uncertain significance | 1 | 154988732 | 154988732 | Human | | name |
| 156085661 | CV1953142 | single nucleotide variant | NM_025207.5(FLAD1):c.1748G>A (p.Arg583Gln) | FLAD1-related disorder [RCV003395488]|not provided [RCV002570052] | uncertain significance | 1 | 154993021 | 154993021 | Human | 1 | name , trait , alternate_id |
| 156354413 | CV1962270 | single nucleotide variant | NM_025207.5(FLAD1):c.1348C>G (p.Gln450Glu) | not provided [RCV002581290] | uncertain significance | 1 | 154990241 | 154990241 | Human | | name |
| 156393557 | CV1962510 | single nucleotide variant | NM_025207.5(FLAD1):c.1174G>T (p.Ala392Ser) | not provided [RCV002584117] | uncertain significance | 1 | 154989616 | 154989616 | Human | | name |
| 156109096 | CV1963588 | single nucleotide variant | NM_025207.5(FLAD1):c.1660G>A (p.Val554Met) | Inborn genetic diseases [RCV002571131]|not provided [RCV002585881] | uncertain significance | 1 | 154992933 | 154992933 | Human | 1 | name |
| 156223347 | CV1965637 | single nucleotide variant | NM_025207.5(FLAD1):c.1364G>A (p.Arg455Lys) | not provided [RCV002596541] | uncertain significance | 1 | 154990257 | 154990257 | Human | | name |
| 156164873 | CV1971441 | single nucleotide variant | NM_025207.5(FLAD1):c.1430G>A (p.Arg477Gln) | not provided [RCV002594592] | uncertain significance | 1 | 154990404 | 154990404 | Human | | name |
| 156413840 | CV1979153 | single nucleotide variant | NM_025207.5(FLAD1):c.1339C>T (p.Gln447Ter) | not provided [RCV002608960] | pathogenic | 1 | 154990232 | 154990232 | Human | | name |
| 156326514 | CV1982095 | single nucleotide variant | NM_025207.5(FLAD1):c.1034G>A (p.Arg345His) | not provided [RCV002649587] | uncertain significance | 1 | 154988766 | 154988766 | Human | | name |
| 156091529 | CV1984107 | single nucleotide variant | NM_025207.5(FLAD1):c.1408G>A (p.Ala470Thr) | not provided [RCV002621876] | uncertain significance | 1 | 154990382 | 154990382 | Human | | name |
| 156321619 | CV1992015 | single nucleotide variant | NM_025207.5(FLAD1):c.1436C>T (p.Pro479Leu) | not provided [RCV002649283] | uncertain significance | 1 | 154990410 | 154990410 | Human | | name |
| 156044332 | CV1999172 | single nucleotide variant | NM_025207.5(FLAD1):c.1440G>C (p.Gln480His) | not provided [RCV002659155] | uncertain significance | 1 | 154990414 | 154990414 | Human | | name |
| 156370878 | CV2007733 | single nucleotide variant | NM_025207.5(FLAD1):c.1274C>G (p.Pro425Arg) | not provided [RCV002676887] | uncertain significance | 1 | 154990167 | 154990167 | Human | | name |
| 156397212 | CV2012545 | single nucleotide variant | NM_025207.5(FLAD1):c.1365G>T (p.Arg455Ser) | not provided [RCV002725682] | uncertain significance | 1 | 154990339 | 154990339 | Human | | name |
| 156215821 | CV2076767 | single nucleotide variant | NM_025207.5(FLAD1):c.1463C>T (p.Thr488Ile) | not provided [RCV002875670] | uncertain significance | 1 | 154990437 | 154990437 | Human | | name |
| 156157517 | CV2142585 | single nucleotide variant | NM_025207.5(FLAD1):c.1253C>T (p.Ala418Val) | not provided [RCV002982874] | uncertain significance | 1 | 154989695 | 154989695 | Human | | name |
| 155919546 | CV2148793 | single nucleotide variant | NM_025207.5(FLAD1):c.1393G>A (p.Gly465Ser) | not provided [RCV002991831] | uncertain significance | 1 | 154990367 | 154990367 | Human | | name |
| 155933392 | CV2153236 | single nucleotide variant | NM_025207.5(FLAD1):c.1349A>G (p.Gln450Arg) | not provided [RCV003013766] | uncertain significance | 1 | 154990242 | 154990242 | Human | | name |
| 156130988 | CV2169136 | single nucleotide variant | NM_025207.5(FLAD1):c.1528G>C (p.Ala510Pro) | not provided [RCV003022176] | uncertain significance | 1 | 154990502 | 154990502 | Human | | name |
| 156030463 | CV2182077 | single nucleotide variant | NM_025207.5(FLAD1):c.1250A>T (p.His417Leu) | not provided [RCV003036162] | uncertain significance | 1 | 154989692 | 154989692 | Human | | name |
| 155927350 | CV2230771 | single nucleotide variant | NM_025207.5(FLAD1):c.1463C>G (p.Thr488Ser) | Inborn genetic diseases [RCV002728271] | uncertain significance | 1 | 154990437 | 154990437 | Human | 1 | name |
| 11350548 | CV226518 | single nucleotide variant | NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) | FLAD1-related disorder [RCV003407734]|Multiple acyl-CoA dehydrogenase deficiency [RCV000223948]|Myopathy with abnormal lipid metabolism [RCV000234835]|not provided [RCV000521126] | pathogenic|likely pathogenic | 1 | 154992746 | 154992746 | Human | 2 | name , trait , alternate_id |
| 156155150 | CV2328731 | single nucleotide variant | NM_025207.5(FLAD1):c.1357A>T (p.Ile453Phe) | Inborn genetic diseases [RCV002954899] | uncertain significance | 1 | 154990250 | 154990250 | Human | 1 | name |
| 329364330 | CV2447363 | single nucleotide variant | NM_025207.5(FLAD1):c.1292T>C (p.Leu431Pro) | Inborn genetic diseases [RCV003206689] | uncertain significance | 1 | 154990185 | 154990185 | Human | 1 | name |
| 329368626 | CV2450385 | single nucleotide variant | NM_025207.5(FLAD1):c.1084G>T (p.Ala362Ser) | Inborn genetic diseases [RCV003208777] | uncertain significance | 1 | 154988816 | 154988816 | Human | 1 | name |
| 329352671 | CV2470298 | single nucleotide variant | NM_025207.5(FLAD1):c.1309C>G (p.Arg437Gly) | Inborn genetic diseases [RCV003200679] | uncertain significance | 1 | 154990202 | 154990202 | Human | 1 | name |
| 401746512 | CV2731832 | single nucleotide variant | NM_025207.5(FLAD1):c.1232C>T (p.Ala411Val) | Inborn genetic diseases [RCV003293776] | uncertain significance | 1 | 154989674 | 154989674 | Human | 1 | name |
| 405084280 | CV2865775 | single nucleotide variant | NM_025207.5(FLAD1):c.1003C>A (p.Leu335Met) | not provided [RCV003549456] | uncertain significance | 1 | 154988735 | 154988735 | Human | | name |
| 405042901 | CV3007709 | single nucleotide variant | NM_025207.5(FLAD1):c.1224C>G (p.Asp408Glu) | not provided [RCV003696459] | uncertain significance | 1 | 154989666 | 154989666 | Human | | name |
| 405167620 | CV3059727 | single nucleotide variant | NM_025207.5(FLAD1):c.1228A>G (p.Thr410Ala) | not provided [RCV003727498] | uncertain significance | 1 | 154989670 | 154989670 | Human | | name |
| 405132548 | CV3130104 | single nucleotide variant | NM_025207.5(FLAD1):c.1538G>A (p.Arg513His) | not provided [RCV003838527] | uncertain significance | 1 | 154990512 | 154990512 | Human | | name |
| 405780549 | CV3260763 | single nucleotide variant | NM_025207.5(FLAD1):c.1387G>A (p.Ala463Thr) | Inborn genetic diseases [RCV004386698] | uncertain significance | 1 | 154990361 | 154990361 | Human | 1 | name |
| 405780555 | CV3260764 | single nucleotide variant | NM_025207.5(FLAD1):c.1456A>G (p.Met486Val) | Inborn genetic diseases [RCV004386699] | uncertain significance | 1 | 154990430 | 154990430 | Human | 1 | name |
| 405780561 | CV3260765 | single nucleotide variant | NM_025207.5(FLAD1):c.1670C>T (p.Pro557Leu) | Inborn genetic diseases [RCV004386700] | uncertain significance | 1 | 154992943 | 154992943 | Human | 1 | name |
| 407502961 | CV3435999 | single nucleotide variant | NM_025207.5(FLAD1):c.1274C>A (p.Pro425His) | Inborn genetic diseases [RCV004623643] | uncertain significance | 1 | 154990167 | 154990167 | Human | 1 | name |
| 407502964 | CV3436000 | single nucleotide variant | NM_025207.5(FLAD1):c.1504A>C (p.Ser502Arg) | Inborn genetic diseases [RCV004623644] | uncertain significance | 1 | 154990478 | 154990478 | Human | 1 | name |
| 408389413 | CV3529382 | single nucleotide variant | NM_025207.5(FLAD1):c.1619A>G (p.Tyr540Cys) | not provided [RCV004774204] | uncertain significance | 1 | 154992777 | 154992777 | Human | | name |
| 596943271 | CV3542859 | single nucleotide variant | NM_025207.5(FLAD1):c.1229C>A (p.Thr410Asn) | not provided [RCV004798443] | uncertain significance | 1 | 154989671 | 154989671 | Human | | name |
| 597653971 | CV3666327 | single nucleotide variant | NM_025207.5(FLAD1):c.1376A>G (p.Gln459Arg) | Inborn genetic diseases [RCV004975132] | uncertain significance | 1 | 154990350 | 154990350 | Human | 1 | name |
| 597924919 | CV3748544 | single nucleotide variant | NM_025207.5(FLAD1):c.1737A>C (p.Glu579Asp) | not provided [RCV005075192] | uncertain significance | 1 | 154993010 | 154993010 | Human | | name |
| 597928900 | CV3749193 | single nucleotide variant | NM_025207.5(FLAD1):c.1537C>T (p.Arg513Cys) | not provided [RCV005075649] | uncertain significance | 1 | 154990511 | 154990511 | Human | | name |
| 597949175 | CV3759279 | single nucleotide variant | NM_025207.5(FLAD1):c.1090G>T (p.Glu364Ter) | not provided [RCV005079076] | pathogenic | 1 | 154988822 | 154988822 | Human | | name |
| 597955287 | CV3796196 | single nucleotide variant | NM_025207.5(FLAD1):c.1568G>C (p.Arg523Thr) | not provided [RCV005137013] | uncertain significance | 1 | 154992726 | 154992726 | Human | | name |
| 597868907 | CV3858385 | single nucleotide variant | NM_025207.5(FLAD1):c.1375C>T (p.Gln459Ter) | not provided [RCV005197128] | pathogenic | 1 | 154990349 | 154990349 | Human | | name |
| 597887776 | CV3859382 | single nucleotide variant | NM_025207.5(FLAD1):c.1211A>G (p.Asn404Ser) | not provided [RCV005200038] | uncertain significance | 1 | 154989653 | 154989653 | Human | | name |
| 598201027 | CV3976823 | single nucleotide variant | NM_025207.5(FLAD1):c.1418A>T (p.Glu473Val) | Inborn genetic diseases [RCV005336760] | uncertain significance | 1 | 154990392 | 154990392 | Human | 1 | name |
| 13529785 | CV498044 | single nucleotide variant | NM_025207.5(FLAD1):c.1184G>A (p.Ser395Asn) | not provided [RCV000896315] | benign|likely benign | 1 | 154989626 | 154989626 | Human | | name |
| 15165348 | CV696135 | single nucleotide variant | NM_025207.5(FLAD1):c.1738G>A (p.Glu580Lys) | not provided [RCV000948566] | likely benign | 1 | 154993011 | 154993011 | Human | | name |
| 15196986 | CV745719 | single nucleotide variant | NM_025207.5(FLAD1):c.1310G>A (p.Arg437His) | not provided [RCV000911851] | likely benign | 1 | 154990203 | 154990203 | Human | | name |
| 8624715 | CV79829 | single nucleotide variant | NM_001184891.1(FLAD1):c.880C>T (p.Leu294=) | Malignant melanoma [RCV000059905] | not provided | 1 | 154989613 | 154989613 | Human | | name |
| 11350549 | CV226511 | microsatellite | NM_025207.5(FLAD1):c.401_404del (p.Phe134fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV000223949]|Myopathy with abnormal lipid metabolism [RCV000234837] | pathogenic | 1 | 154988129 | 154988132 | Human | | name |
| 11350546 | CV226515 | duplication | NM_025207.5(FLAD1):c.568_569dup (p.Val191fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV000223944]|Myopathy with abnormal lipid metabolism [RCV000234839] | pathogenic | 1 | 154988299 | 154988300 | Human | 2 | name |
| 597720912 | CV3733610 | deletion | NM_025207.5(FLAD1):c.512_528del (p.Thr171fs) | Myopathy with abnormal lipid metabolism [RCV005052915] | likely pathogenic | 1 | 154988242 | 154988258 | Human | 1 | name |
| 156444260 | CV1937787 | microsatellite | NM_025207.5(FLAD1):c.1121CTT[1] (p.Ser375del) | not provided [RCV003115183] | uncertain significance | 1 | 154989562 | 154989564 | Human | | name |
| 156262590 | CV2053818 | deletion | NM_025207.5(FLAD1):c.356_358del (p.Gly119del) | not provided [RCV002792067] | uncertain significance | 1 | 154984049 | 154984051 | Human | | name |
| 405240351 | CV3166149 | insertion | NM_025207.5(FLAD1):c.987_988insC (p.Glu330fs) | not provided [RCV003867161] | pathogenic | 1 | 154988719 | 154988720 | Human | | name |
| 25318429 | CV805176 | deletion | NM_025207.5(FLAD1):c.1054_1075del (p.Val352fs) | not provided [RCV001008609] | likely pathogenic | 1 | 154988781 | 154988802 | Human | | name |
| 11350544 | CV226517 | deletion | NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del) | Multiple acyl-CoA dehydrogenase deficiency [RCV000223940]|Myopathy with abnormal lipid metabolism [RCV000234840] | pathogenic | 1 | 154990456 | 154990458 | Human | 2 | name |
| 11350547 | CV226514 | indel | NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs) | Multiple acyl-CoA dehydrogenase deficiency [RCV000223945]|Myopathy with abnormal lipid metabolism [RCV000234836] | pathogenic | 1 | 154988258 | 154988269 | Human | | name |
| 25317497 | CV805177 | deletion | NM_025207.5(FLAD1):c.1389_1398del (p.Ala463_Glu464insTer) | not provided [RCV001008054] | likely pathogenic | 1 | 154990360 | 154990369 | Human | | name |