| 11546005 | CV255248 | single nucleotide variant | NM_016132.5(MYEF2):c.*1799T>A | not provided [RCV000954291]|not specified [RCV000245898] | benign | 15 | 48141109 | 48141109 | Human | | name |
| 408383386 | CV3503751 | single nucleotide variant | NM_016132.5(MYEF2):c.525+14T>C | MYEF2-related condition [RCV004730546] | likely benign | 15 | 48165919 | 48165919 | Human | | name , trait |
| 401718380 | CV2708248 | single nucleotide variant | NM_016132.5(MYEF2):c.22G>A (p.Glu8Lys) | not specified [RCV004311595] | uncertain significance | 15 | 48178216 | 48178216 | Human | | name |
| 401757724 | CV2707931 | single nucleotide variant | NM_016132.5(MYEF2):c.73C>A (p.Pro25Thr) | not specified [RCV004309196] | uncertain significance | 15 | 48178165 | 48178165 | Human | | name |
| 401890284 | CV2755485 | single nucleotide variant | NM_016132.5(MYEF2):c.28C>T (p.Pro10Ser) | not specified [RCV004340072] | uncertain significance | 15 | 48178210 | 48178210 | Human | | name |
| 405717398 | CV3309637 | single nucleotide variant | NM_016132.5(MYEF2):c.57C>G (p.His19Gln) | not specified [RCV004449385] | uncertain significance | 15 | 48178181 | 48178181 | Human | | name |
| 156325492 | CV2195405 | single nucleotide variant | NM_016132.5(MYEF2):c.106G>C (p.Ala36Pro) | not specified [RCV004080316] | likely benign | 15 | 48178132 | 48178132 | Human | | name |
| 329368330 | CV2442709 | single nucleotide variant | NM_016132.5(MYEF2):c.176C>T (p.Ser59Leu) | not specified [RCV004265053] | uncertain significance | 15 | 48168825 | 48168825 | Human | | name |
| 405699480 | CV3309581 | single nucleotide variant | NM_016132.5(MYEF2):c.104C>A (p.Pro35His) | not specified [RCV004446849] | uncertain significance | 15 | 48178134 | 48178134 | Human | | name |
| 405717187 | CV3309611 | single nucleotide variant | NM_016132.5(MYEF2):c.149A>G (p.Asn50Ser) | not specified [RCV004449359] | uncertain significance | 15 | 48178089 | 48178089 | Human | | name |
| 156066958 | CV2193464 | single nucleotide variant | NM_016132.5(MYEF2):c.910C>T (p.His304Tyr) | not specified [RCV004072952] | uncertain significance | 15 | 48158186 | 48158186 | Human | | name |
| 155977942 | CV2226496 | single nucleotide variant | NM_016132.5(MYEF2):c.689G>C (p.Arg230Thr) | not specified [RCV004099696] | uncertain significance | 15 | 48159641 | 48159641 | Human | | name |
| 156019283 | CV2301808 | single nucleotide variant | NM_016132.5(MYEF2):c.832G>A (p.Val278Ile) | not specified [RCV004156608] | uncertain significance | 15 | 48158808 | 48158808 | Human | | name |
| 156006776 | CV2357811 | single nucleotide variant | NM_016132.5(MYEF2):c.765A>G (p.Ile255Met) | not specified [RCV004205098] | uncertain significance | 15 | 48158875 | 48158875 | Human | | name |
| 156001882 | CV2391987 | single nucleotide variant | NM_016132.5(MYEF2):c.685G>A (p.Gly229Ser) | not specified [RCV004235847] | uncertain significance | 15 | 48159645 | 48159645 | Human | | name |
| 329395558 | CV2458464 | single nucleotide variant | NM_016132.5(MYEF2):c.604G>A (p.Gly202Arg) | not specified [RCV004267876] | uncertain significance | 15 | 48159726 | 48159726 | Human | | name |
| 401897573 | CV2787156 | single nucleotide variant | NM_016132.5(MYEF2):c.812A>G (p.Lys271Arg) | not specified [RCV004360581] | uncertain significance | 15 | 48158828 | 48158828 | Human | | name |
| 407514804 | CV3454278 | single nucleotide variant | NM_016132.5(MYEF2):c.632C>G (p.Ser211Cys) | not specified [RCV004649641] | uncertain significance | 15 | 48159698 | 48159698 | Human | | name |
| 407514807 | CV3454279 | single nucleotide variant | NM_016132.5(MYEF2):c.678G>T (p.Leu226Phe) | not specified [RCV004649642] | uncertain significance | 15 | 48159652 | 48159652 | Human | | name |
| 407504156 | CV3454280 | single nucleotide variant | NM_016132.5(MYEF2):c.542A>G (p.Asn181Ser) | not specified [RCV004645711] | uncertain significance | 15 | 48159788 | 48159788 | Human | | name |
| 597645872 | CV3554882 | single nucleotide variant | NM_016132.5(MYEF2):c.680A>G (p.Gln227Arg) | not specified [RCV004826191] | uncertain significance | 15 | 48159650 | 48159650 | Human | | name |
| 597645881 | CV3554883 | single nucleotide variant | NM_016132.5(MYEF2):c.485A>G (p.Asn162Ser) | not specified [RCV004826192] | uncertain significance | 15 | 48165973 | 48165973 | Human | | name |
| 597645898 | CV3554885 | single nucleotide variant | NM_016132.5(MYEF2):c.881A>T (p.Asn294Ile) | not specified [RCV004826194] | uncertain significance | 15 | 48158215 | 48158215 | Human | | name |
| 598188736 | CV3983221 | single nucleotide variant | NM_016132.5(MYEF2):c.781C>T (p.Arg261Trp) | not specified [RCV005373766] | uncertain significance | 15 | 48158859 | 48158859 | Human | | name |
| 598188744 | CV3983222 | single nucleotide variant | NM_016132.5(MYEF2):c.506G>A (p.Arg169Lys) | not specified [RCV005373767] | uncertain significance | 15 | 48165952 | 48165952 | Human | | name |
| 598188752 | CV3983223 | single nucleotide variant | NM_016132.5(MYEF2):c.952C>T (p.Arg318Cys) | not specified [RCV005373768] | uncertain significance | 15 | 48158026 | 48158026 | Human | | name |
| 156060976 | CV2236050 | single nucleotide variant | NM_016132.5(MYEF2):c.1736G>A (p.Cys579Tyr) | not specified [RCV004114212] | uncertain significance | 15 | 48142975 | 48142975 | Human | | name |
| 155946816 | CV2238180 | single nucleotide variant | NM_016132.5(MYEF2):c.1610A>C (p.Gln537Pro) | not specified [RCV004111178] | uncertain significance | 15 | 48149061 | 48149061 | Human | | name |
| 156266410 | CV2299424 | single nucleotide variant | NM_016132.5(MYEF2):c.1349C>T (p.Ser450Phe) | not specified [RCV004154508] | uncertain significance | 15 | 48151129 | 48151129 | Human | | name |
| 155978237 | CV2321398 | single nucleotide variant | NM_016132.5(MYEF2):c.1445C>T (p.Ser482Phe) | not specified [RCV004177389] | uncertain significance | 15 | 48149305 | 48149305 | Human | | name |
| 156336526 | CV2333684 | single nucleotide variant | NM_016132.5(MYEF2):c.1480A>G (p.Ile494Val) | not specified [RCV004192522] | uncertain significance | 15 | 48149270 | 48149270 | Human | | name |
| 401730602 | CV2689751 | single nucleotide variant | NM_016132.5(MYEF2):c.1528A>G (p.Met510Val) | not specified [RCV004297662] | uncertain significance | 15 | 48149222 | 48149222 | Human | | name |
| 401769521 | CV2689807 | single nucleotide variant | NM_016132.5(MYEF2):c.1008G>C (p.Met336Ile) | not specified [RCV004297711] | uncertain significance | 15 | 48153871 | 48153871 | Human | | name |
| 401730587 | CV2711405 | single nucleotide variant | NM_016132.5(MYEF2):c.1354A>G (p.Met452Val) | not specified [RCV004313161] | uncertain significance | 15 | 48151124 | 48151124 | Human | | name |
| 405699655 | CV3309586 | single nucleotide variant | NM_016132.5(MYEF2):c.1165A>C (p.Met389Leu) | not specified [RCV004446854] | uncertain significance | 15 | 48151916 | 48151916 | Human | | name |
| 405699659 | CV3309587 | single nucleotide variant | NM_016132.5(MYEF2):c.1300A>G (p.Arg434Gly) | not specified [RCV004446855] | uncertain significance | 15 | 48151479 | 48151479 | Human | | name |
| 405717078 | CV3309598 | single nucleotide variant | NM_016132.5(MYEF2):c.1412G>C (p.Gly471Ala) | not specified [RCV004449346] | uncertain significance | 15 | 48149338 | 48149338 | Human | | name |
| 405717121 | CV3309603 | single nucleotide variant | NM_016132.5(MYEF2):c.1436G>A (p.Arg479Gln) | not specified [RCV004449351] | uncertain significance | 15 | 48149314 | 48149314 | Human | | name |
| 407504158 | CV3454281 | single nucleotide variant | NM_016132.5(MYEF2):c.1402A>T (p.Ser468Cys) | not specified [RCV004645712] | uncertain significance | 15 | 48149348 | 48149348 | Human | | name |
| 597645865 | CV3554881 | single nucleotide variant | NM_016132.5(MYEF2):c.1382G>A (p.Gly461Asp) | not specified [RCV004826190] | uncertain significance | 15 | 48149368 | 48149368 | Human | | name |
| 597645891 | CV3554884 | single nucleotide variant | NM_016132.5(MYEF2):c.1388T>C (p.Met463Thr) | not specified [RCV004826193] | uncertain significance | 15 | 48149362 | 48149362 | Human | | name |