| 28902539 | CV892749 | single nucleotide variant | NM_032446.2(MEGF10):c.-348C>A | MEGF10-related myopathy [RCV001157160] | uncertain significance | 5 | 127290778 | 127290778 | Human | 1 | name , trait |
| 11591389 | CV300615 | single nucleotide variant | NM_001256545.2(MEGF10):c.*4C>G | MEGF10-related myopathy [RCV000328421]|not provided [RCV001718753] | benign|likely benign|uncertain significance | 5 | 127457322 | 127457322 | Human | 1 | name |
| 12840380 | CV367849 | single nucleotide variant | NM_001256545.2(MEGF10):c.-7G>A | not specified [RCV000430597] | likely benign | 5 | 127331302 | 127331302 | Human | | name |
| 11663264 | CV295116 | single nucleotide variant | NM_001256545.2(MEGF10):c.-96A>C | MEGF10-related myopathy [RCV000394224] | uncertain significance | 5 | 127290979 | 127290979 | Human | 1 | name , trait |
| 11585829 | CV296966 | single nucleotide variant | NM_001256545.2(MEGF10):c.*22C>T | MEGF10-related myopathy [RCV000283787] | uncertain significance | 5 | 127457340 | 127457340 | Human | 1 | name , trait |
| 11592878 | CV296967 | single nucleotide variant | NM_001256545.2(MEGF10):c.*52G>T | MEGF10-related myopathy [RCV000343432]|not provided [RCV001552701] | likely benign|uncertain significance | 5 | 127457370 | 127457370 | Human | 1 | name |
| 11596480 | CV300785 | single nucleotide variant | NM_001256545.2(MEGF10):c.*13G>A | MEGF10-related myopathy [RCV000383033] | uncertain significance | 5 | 127457331 | 127457331 | Human | 1 | name , trait |
| 28892705 | CV892772 | single nucleotide variant | NM_001256545.2(MEGF10):c.*48G>A | MEGF10-related myopathy [RCV001153270] | uncertain significance | 5 | 127457366 | 127457366 | Human | 1 | name , trait |
| 28899526 | CV892773 | single nucleotide variant | NM_001256545.2(MEGF10):c.*77C>T | MEGF10-related myopathy [RCV001155866] | uncertain significance | 5 | 127457395 | 127457395 | Human | 1 | name , trait |
| 11592182 | CV295112 | single nucleotide variant | NM_001256545.2(MEGF10):c.-122G>A | MEGF10-related myopathy [RCV000336372]|not provided [RCV001718750] | benign|likely benign | 5 | 127290953 | 127290953 | Human | 1 | name |
| 11597346 | CV295163 | single nucleotide variant | NM_001256545.2(MEGF10):c.*447A>G | MEGF10-related myopathy [RCV000393236] | uncertain significance | 5 | 127457765 | 127457765 | Human | 1 | name , trait |
| 11651197 | CV296949 | single nucleotide variant | NM_001256545.2(MEGF10):c.-197T>C | MEGF10-related myopathy [RCV000297675] | uncertain significance | 5 | 127290878 | 127290878 | Human | 1 | name , trait |
| 11593589 | CV296973 | single nucleotide variant | NM_001256545.2(MEGF10):c.*601C>T | MEGF10-related myopathy [RCV000350456] | uncertain significance | 5 | 127457919 | 127457919 | Human | 1 | name , trait |
| 11651645 | CV300632 | single nucleotide variant | NM_001256545.2(MEGF10):c.*559G>A | MEGF10-related myopathy [RCV000300266] | uncertain significance | 5 | 127457877 | 127457877 | Human | 1 | name , trait |
| 11595344 | CV300633 | single nucleotide variant | NM_001256545.2(MEGF10):c.*933C>G | MEGF10-related myopathy [RCV000369684] | uncertain significance | 5 | 127458251 | 127458251 | Human | 1 | name , trait |
| 11596202 | CV300794 | single nucleotide variant | NM_001256545.2(MEGF10):c.*164G>A | MEGF10-related myopathy [RCV000379479] | uncertain significance | 5 | 127457482 | 127457482 | Human | 1 | name , trait |
| 11585325 | CV300796 | single nucleotide variant | NM_001256545.2(MEGF10):c.*192A>T | MEGF10-related myopathy [RCV000280350] | uncertain significance | 5 | 127457510 | 127457510 | Human | 1 | name , trait |
| 11592073 | CV300797 | single nucleotide variant | NM_001256545.2(MEGF10):c.*209C>G | MEGF10-related myopathy [RCV000335143]|not provided [RCV001636975] | benign | 5 | 127457527 | 127457527 | Human | 1 | name |
| 11597348 | CV300798 | single nucleotide variant | NM_001256545.2(MEGF10):c.*625A>G | MEGF10-related myopathy [RCV000393249] | benign|likely benign | 5 | 127457943 | 127457943 | Human | 1 | name , trait |
| 11590032 | CV300827 | single nucleotide variant | NM_001256545.2(MEGF10):c.*780A>C | MEGF10-related myopathy [RCV000315140] | uncertain significance | 5 | 127458098 | 127458098 | Human | 1 | name , trait |
| 28888236 | CV892750 | single nucleotide variant | NM_001256545.2(MEGF10):c.-219G>T | MEGF10-related myopathy [RCV001151701] | uncertain significance | 5 | 127290856 | 127290856 | Human | 1 | name , trait |
| 28888239 | CV892751 | single nucleotide variant | NM_001256545.2(MEGF10):c.-152A>G | MEGF10-related myopathy [RCV001151702] | uncertain significance | 5 | 127290923 | 127290923 | Human | 1 | name , trait |
| 28899529 | CV892774 | single nucleotide variant | NM_001256545.2(MEGF10):c.*104G>A | MEGF10-related myopathy [RCV001155867] | uncertain significance | 5 | 127457422 | 127457422 | Human | 1 | name , trait |
| 28899531 | CV892775 | single nucleotide variant | NM_001256545.2(MEGF10):c.*154C>T | MEGF10-related myopathy [RCV001155868] | uncertain significance | 5 | 127457472 | 127457472 | Human | 1 | name , trait |
| 28899534 | CV892776 | single nucleotide variant | NM_001256545.2(MEGF10):c.*186C>A | MEGF10-related myopathy [RCV001155869] | uncertain significance | 5 | 127457504 | 127457504 | Human | 1 | name , trait |
| 28899536 | CV892777 | single nucleotide variant | NM_001256545.2(MEGF10):c.*187G>A | MEGF10-related myopathy [RCV001155870] | uncertain significance | 5 | 127457505 | 127457505 | Human | 1 | name , trait |
| 28903456 | CV892778 | single nucleotide variant | NM_001256545.2(MEGF10):c.*296C>T | MEGF10-related myopathy [RCV001157571] | uncertain significance | 5 | 127457614 | 127457614 | Human | 1 | name , trait |
| 28903458 | CV892779 | single nucleotide variant | NM_001256545.2(MEGF10):c.*357T>G | MEGF10-related myopathy [RCV001157572] | uncertain significance | 5 | 127457675 | 127457675 | Human | 1 | name , trait |
| 28903462 | CV892780 | single nucleotide variant | NM_001256545.2(MEGF10):c.*534A>G | MEGF10-related myopathy [RCV001157573]|not provided [RCV004706042] | likely benign | 5 | 127457852 | 127457852 | Human | 1 | name |
| 28903465 | CV892781 | single nucleotide variant | NM_001256545.2(MEGF10):c.*551G>A | MEGF10-related myopathy [RCV001157574] | uncertain significance | 5 | 127457869 | 127457869 | Human | 1 | name , trait |
| 28889462 | CV892782 | single nucleotide variant | NM_001256545.2(MEGF10):c.*602G>A | MEGF10-related myopathy [RCV001152104] | uncertain significance | 5 | 127457920 | 127457920 | Human | 1 | name , trait |
| 28889465 | CV892783 | single nucleotide variant | NM_001256545.2(MEGF10):c.*663A>C | MEGF10-related myopathy [RCV001152105] | uncertain significance | 5 | 127457981 | 127457981 | Human | 1 | name , trait |
| 28889468 | CV892784 | single nucleotide variant | NM_001256545.2(MEGF10):c.*941A>G | MEGF10-related myopathy [RCV001152106] | uncertain significance | 5 | 127458259 | 127458259 | Human | 1 | name , trait |
| 126750081 | CV1026240 | single nucleotide variant | NM_001256545.2(MEGF10):c.413-7A>G | MEGF10-related myopathy [RCV001337972] | uncertain significance | 5 | 127396525 | 127396525 | Human | 1 | name , trait |
| 127275841 | CV1072126 | single nucleotide variant | NM_001256545.2(MEGF10):c.320-9C>G | MEGF10-related myopathy [RCV001406921] | likely benign | 5 | 127369901 | 127369901 | Human | 1 | name , trait |
| 127232087 | CV1072128 | single nucleotide variant | NM_001256545.2(MEGF10):c.917+7G>A | MEGF10-related myopathy [RCV001395555] | likely benign | 5 | 127402689 | 127402689 | Human | 1 | name , trait |
| 127301809 | CV1136202 | single nucleotide variant | NM_001256545.2(MEGF10):c.412+8T>C | MEGF10-related myopathy [RCV001478802] | likely benign | 5 | 127370010 | 127370010 | Human | 1 | name , trait |
| 8580343 | CV114773 | single nucleotide variant | NM_032446.2(MEGF10):c.116+3668G>C | Lung cancer [RCV000095296] | uncertain significance | 5 | 127335092 | 127335092 | Human | | name |
| 127296245 | CV1162275 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3847G>T | MEGF10-related myopathy [RCV001527389] | uncertain significance | 5 | 127461165 | 127461165 | Human | 1 | name , trait |
| 151738712 | CV1390071 | single nucleotide variant | NM_001256545.2(MEGF10):c.117-3C>T | MEGF10-related myopathy [RCV001893053] | uncertain significance | 5 | 127339117 | 127339117 | Human | 1 | name , trait |
| 151742617 | CV1514804 | single nucleotide variant | NM_001256545.2(MEGF10):c.219-3T>C | MEGF10-related myopathy [RCV002022469] | uncertain significance | 5 | 127340527 | 127340527 | Human | 1 | name , trait |
| 152061658 | CV1558407 | single nucleotide variant | NM_001256545.2(MEGF10):c.413-5C>T | MEGF10-related myopathy [RCV002128408] | likely benign | 5 | 127396527 | 127396527 | Human | 1 | name , trait |
| 152077866 | CV1564752 | single nucleotide variant | NM_001256545.2(MEGF10):c.117-8C>G | MEGF10-related myopathy [RCV002192654] | likely benign | 5 | 127339112 | 127339112 | Human | 1 | name , trait |
| 156283571 | CV1929605 | single nucleotide variant | NM_001256545.2(MEGF10):c.319+1G>A | MEGF10-related myopathy [RCV002628520] | likely pathogenic | 5 | 127340631 | 127340631 | Human | 1 | name , trait |
| 156329398 | CV2116357 | single nucleotide variant | NM_001256545.2(MEGF10):c.219-4A>G | MEGF10-related myopathy [RCV002938280] | likely benign | 5 | 127340526 | 127340526 | Human | 1 | name , trait |
| 155954183 | CV2123717 | single nucleotide variant | NM_001256545.2(MEGF10):c.781-1G>A | MEGF10-related myopathy [RCV002972030] | likely pathogenic | 5 | 127402545 | 127402545 | Human | 1 | name , trait |
| 155948404 | CV2164705 | single nucleotide variant | NM_001256545.2(MEGF10):c.218+8A>C | MEGF10-related myopathy [RCV003032294] | likely benign | 5 | 127339229 | 127339229 | Human | 1 | name , trait |
| 156135771 | CV2169516 | single nucleotide variant | NM_001256545.2(MEGF10):c.412+1G>T | MEGF10-related myopathy [RCV003022345] | likely pathogenic | 5 | 127370003 | 127370003 | Human | 1 | name , trait |
| 11542936 | CV251620 | single nucleotide variant | NM_001256545.2(MEGF10):c.219-7T>C | MEGF10-related myopathy [RCV002058374]|not specified [RCV000241794] | likely benign | 5 | 127340523 | 127340523 | Human | 1 | name |
| 11546064 | CV251624 | single nucleotide variant | NM_001256545.2(MEGF10):c.660-3C>T | MEGF10-related myopathy [RCV000351213]|not specified [RCV000245974] | benign|likely benign | 5 | 127398673 | 127398673 | Human | 1 | name |
| 405024860 | CV2877296 | single nucleotide variant | NM_001256545.2(MEGF10):c.781-4G>A | MEGF10-related myopathy [RCV003528890] | likely benign | 5 | 127402542 | 127402542 | Human | 1 | name , trait |
| 405018588 | CV2934001 | deletion | NM_001256545.2(MEGF10):c.117-9del | MEGF10-related myopathy [RCV003527990] | likely benign | 5 | 127339109 | 127339109 | Human | 1 | name , trait |
| 11588967 | CV295164 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1094A>T | MEGF10-related myopathy [RCV000307002] | uncertain significance | 5 | 127458412 | 127458412 | Human | 1 | name , trait |
| 11595912 | CV295165 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1387A>G | MEGF10-related myopathy [RCV000376350] | uncertain significance | 5 | 127458705 | 127458705 | Human | 1 | name , trait |
| 11593071 | CV295172 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2149G>A | MEGF10-related myopathy [RCV000345302] | benign|likely benign | 5 | 127459467 | 127459467 | Human | 1 | name , trait |
| 11652537 | CV295173 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2555A>G | MEGF10-related myopathy [RCV000305715] | uncertain significance | 5 | 127459873 | 127459873 | Human | 1 | name , trait |
| 11594570 | CV295180 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2630A>G | MEGF10-related myopathy [RCV000360535] | uncertain significance | 5 | 127459948 | 127459948 | Human | 1 | name , trait |
| 11582789 | CV295182 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3267G>C | MEGF10-related myopathy [RCV000262349] | uncertain significance | 5 | 127460585 | 127460585 | Human | 1 | name , trait |
| 11656174 | CV295192 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3313T>C | MEGF10-related myopathy [RCV000331577] | uncertain significance | 5 | 127460631 | 127460631 | Human | 1 | name , trait |
| 11591749 | CV295193 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3537T>C | MEGF10-related myopathy [RCV000332148] | uncertain significance | 5 | 127460855 | 127460855 | Human | 1 | name , trait |
| 11661988 | CV295196 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3562C>T | MEGF10-related myopathy [RCV000382025] | uncertain significance | 5 | 127460880 | 127460880 | Human | 1 | name , trait |
| 11585868 | CV295202 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3615G>A | MEGF10-related myopathy [RCV000284008] | uncertain significance | 5 | 127460933 | 127460933 | Human | 1 | name , trait |
| 11652418 | CV295204 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3868G>A | MEGF10-related myopathy [RCV000304987] | uncertain significance | 5 | 127461186 | 127461186 | Human | 1 | name , trait |
| 11595054 | CV296986 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1170G>A | MEGF10-related myopathy [RCV000366355] | uncertain significance | 5 | 127458488 | 127458488 | Human | 1 | name , trait |
| 11655037 | CV296989 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1469G>A | MEGF10-related myopathy [RCV000322769] | uncertain significance | 5 | 127458787 | 127458787 | Human | 1 | name , trait |
| 11656967 | CV296990 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1699G>A | MEGF10-related myopathy [RCV000337882] | uncertain significance | 5 | 127459017 | 127459017 | Human | 1 | name , trait |
| 11661133 | CV296992 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1746T>G | MEGF10-related myopathy [RCV000373730] | uncertain significance | 5 | 127459064 | 127459064 | Human | 1 | name , trait |
| 11589817 | CV296999 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2114T>C | MEGF10-related myopathy [RCV000313754]|not provided [RCV004705374] | likely benign | 5 | 127459432 | 127459432 | Human | 1 | name |
| 11597761 | CV297002 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2174T>C | MEGF10-related myopathy [RCV000397859] | uncertain significance | 5 | 127459492 | 127459492 | Human | 1 | name , trait |
| 11654263 | CV297003 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2972T>C | MEGF10-related myopathy [RCV000316261] | uncertain significance | 5 | 127460290 | 127460290 | Human | 1 | name , trait |
| 11657125 | CV297006 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3669C>A | MEGF10-related myopathy [RCV000339018] | uncertain significance | 5 | 127460987 | 127460987 | Human | 1 | name , trait |
| 11658573 | CV300568 | single nucleotide variant | NM_001256545.2(MEGF10):c.780+9C>T | MEGF10-related myopathy [RCV000350257] | uncertain significance | 5 | 127398805 | 127398805 | Human | 1 | name , trait |
| 11584146 | CV300648 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1246C>T | MEGF10-related myopathy [RCV000271811] | benign|likely benign | 5 | 127458564 | 127458564 | Human | 1 | name , trait |
| 11583554 | CV300654 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1410G>T | MEGF10-related myopathy [RCV000267696]|not provided [RCV004707124] | likely benign | 5 | 127458728 | 127458728 | Human | 1 | name |
| 11585011 | CV300656 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1584G>A | MEGF10-related myopathy [RCV000278124] | uncertain significance | 5 | 127458902 | 127458902 | Human | 1 | name , trait |
| 11664502 | CV300657 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2106T>C | MEGF10-related myopathy [RCV000406514] | uncertain significance | 5 | 127459424 | 127459424 | Human | 1 | name , trait |
| 11594927 | CV300658 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2236C>A | MEGF10-related myopathy [RCV000364895] | benign | 5 | 127459554 | 127459554 | Human | 1 | name , trait |
| 11594253 | CV300667 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3175G>A | MEGF10-related myopathy [RCV000357192] | uncertain significance | 5 | 127460493 | 127460493 | Human | 1 | name , trait |
| 11662431 | CV300671 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3461A>G | MEGF10-related myopathy [RCV000386121] | uncertain significance | 5 | 127460779 | 127460779 | Human | 1 | name , trait |
| 11593255 | CV300673 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3575T>G | MEGF10-related myopathy [RCV000347142] | benign | 5 | 127460893 | 127460893 | Human | 1 | name , trait |
| 11583950 | CV300831 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1052C>A | MEGF10-related myopathy [RCV000270496] | uncertain significance | 5 | 127458370 | 127458370 | Human | 1 | name , trait |
| 11590784 | CV300832 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1296T>A | MEGF10-related myopathy [RCV000322263] | uncertain significance | 5 | 127458614 | 127458614 | Human | 1 | name , trait |
| 11661021 | CV300833 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1496T>C | MEGF10-related myopathy [RCV000372716] | uncertain significance | 5 | 127458814 | 127458814 | Human | 1 | name , trait |
| 11587219 | CV300835 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1810C>T | MEGF10-related myopathy [RCV000293398]|not provided [RCV004707125] | likely benign | 5 | 127459128 | 127459128 | Human | 1 | name |
| 11658381 | CV300836 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1866C>T | MEGF10-related myopathy [RCV000348711] | uncertain significance | 5 | 127459184 | 127459184 | Human | 1 | name , trait |
| 11589391 | CV300837 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2222A>G | MEGF10-related myopathy [RCV000310246] | uncertain significance | 5 | 127459540 | 127459540 | Human | 1 | name , trait |
| 11583269 | CV300839 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2519G>A | MEGF10-related myopathy [RCV000265613] | uncertain significance | 5 | 127459837 | 127459837 | Human | 1 | name , trait |
| 11582632 | CV300852 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2663T>C | MEGF10-related myopathy [RCV000261081] | uncertain significance | 5 | 127459981 | 127459981 | Human | 1 | name , trait |
| 11586410 | CV300853 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3566G>T | MEGF10-related myopathy [RCV000287622] | uncertain significance | 5 | 127460884 | 127460884 | Human | 1 | name , trait |
| 11664239 | CV300855 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3577T>C | MEGF10-related myopathy [RCV000404034] | uncertain significance | 5 | 127460895 | 127460895 | Human | 1 | name , trait |
| 11663403 | CV300856 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3769C>T | MEGF10-related myopathy [RCV000395810] | uncertain significance | 5 | 127461087 | 127461087 | Human | 1 | name , trait |
| 12844792 | CV367856 | single nucleotide variant | NM_001256545.2(MEGF10):c.917+6G>T | MEGF10-related myopathy [RCV002525478]|not specified [RCV000438617] | likely benign|uncertain significance | 5 | 127402688 | 127402688 | Human | 1 | name |
| 597958924 | CV3751897 | single nucleotide variant | NM_001256545.2(MEGF10):c.781-8G>T | MEGF10-related myopathy [RCV005081027] | likely benign | 5 | 127402538 | 127402538 | Human | 1 | name , trait |
| 597955030 | CV3786806 | single nucleotide variant | NM_001256545.2(MEGF10):c.219-9T>C | MEGF10-related myopathy [RCV005121898] | likely benign | 5 | 127340521 | 127340521 | Human | 1 | name , trait |
| 13492503 | CV454336 | single nucleotide variant | NM_001256545.2(MEGF10):c.319+1G>C | MEGF10-related myopathy [RCV000557494] | likely pathogenic | 5 | 127340631 | 127340631 | Human | 1 | name , trait |
| 13814739 | CV564447 | single nucleotide variant | NM_001256545.2(MEGF10):c.412+2T>C | MEGF10-related myopathy [RCV000705234] | likely pathogenic | 5 | 127370004 | 127370004 | Human | 1 | name , trait |
| 15121179 | CV759434 | single nucleotide variant | NM_001256545.2(MEGF10):c.413-4T>C | MEGF10-related myopathy [RCV000918440] | likely benign | 5 | 127396528 | 127396528 | Human | 1 | name , trait |
| 28889472 | CV892785 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1028G>A | MEGF10-related myopathy [RCV001152107]|not provided [RCV003433048] | likely benign|uncertain significance | 5 | 127458346 | 127458346 | Human | 1 | name |
| 28892996 | CV892786 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1150T>C | MEGF10-related myopathy [RCV001153373]|not provided [RCV004707555] | likely benign | 5 | 127458468 | 127458468 | Human | 1 | name |
| 28892999 | CV892787 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1312G>A | MEGF10-related myopathy [RCV001153374] | uncertain significance | 5 | 127458630 | 127458630 | Human | 1 | name , trait |
| 28893004 | CV892788 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1375A>G | MEGF10-related myopathy [RCV001153375] | uncertain significance | 5 | 127458693 | 127458693 | Human | 1 | name , trait |
| 28899796 | CV892789 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1522C>A | MEGF10-related myopathy [RCV001155981] | likely benign | 5 | 127458840 | 127458840 | Human | 1 | name , trait |
| 28899800 | CV892790 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1685G>T | MEGF10-related myopathy [RCV001155982] | likely benign | 5 | 127459003 | 127459003 | Human | 1 | name , trait |
| 28903727 | CV892791 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1901C>T | MEGF10-related myopathy [RCV001157692] | uncertain significance | 5 | 127459219 | 127459219 | Human | 1 | name , trait |
| 28903731 | CV892792 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1953G>C | MEGF10-related myopathy [RCV001157693] | uncertain significance | 5 | 127459271 | 127459271 | Human | 1 | name , trait |
| 28903734 | CV892793 | single nucleotide variant | NM_001256545.2(MEGF10):c.*1983T>C | MEGF10-related myopathy [RCV001157694] | uncertain significance | 5 | 127459301 | 127459301 | Human | 1 | name , trait |
| 28903737 | CV892794 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2001A>G | MEGF10-related myopathy [RCV001157695] | uncertain significance | 5 | 127459319 | 127459319 | Human | 1 | name , trait |
| 28903740 | CV892795 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2002A>T | MEGF10-related myopathy [RCV001157696] | uncertain significance | 5 | 127459320 | 127459320 | Human | 1 | name , trait |
| 28903744 | CV892796 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2066A>G | MEGF10-related myopathy [RCV001157697] | uncertain significance | 5 | 127459384 | 127459384 | Human | 1 | name , trait |
| 28903747 | CV892797 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2098G>A | MEGF10-related myopathy [RCV001157698] | uncertain significance | 5 | 127459416 | 127459416 | Human | 1 | name , trait |
| 28889798 | CV892798 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2113A>G | MEGF10-related myopathy [RCV001152211] | uncertain significance | 5 | 127459431 | 127459431 | Human | 1 | name , trait |
| 28893333 | CV892799 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2240G>A | MEGF10-related myopathy [RCV001153497]|not provided [RCV004707556] | likely benign | 5 | 127459558 | 127459558 | Human | 1 | name |
| 28893337 | CV892800 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2329T>C | MEGF10-related myopathy [RCV001153498] | uncertain significance | 5 | 127459647 | 127459647 | Human | 1 | name , trait |
| 28893339 | CV892801 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2485G>T | MEGF10-related myopathy [RCV001153499] | uncertain significance | 5 | 127459803 | 127459803 | Human | 1 | name , trait |
| 28893341 | CV892802 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2518C>T | MEGF10-related myopathy [RCV001153500] | uncertain significance | 5 | 127459836 | 127459836 | Human | 1 | name , trait |
| 28893345 | CV892803 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2549G>C | MEGF10-related myopathy [RCV001153501] | uncertain significance | 5 | 127459867 | 127459867 | Human | 1 | name , trait |
| 28900072 | CV892804 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2852T>C | MEGF10-related myopathy [RCV001156101] | uncertain significance | 5 | 127460170 | 127460170 | Human | 1 | name , trait |
| 28900074 | CV892805 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2868G>A | MEGF10-related myopathy [RCV001156102] | uncertain significance | 5 | 127460186 | 127460186 | Human | 1 | name , trait |
| 28900076 | CV892806 | single nucleotide variant | NM_001256545.2(MEGF10):c.*2911T>G | MEGF10-related myopathy [RCV001156103] | uncertain significance | 5 | 127460229 | 127460229 | Human | 1 | name , trait |
| 28900078 | CV892807 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3053A>G | MEGF10-related myopathy [RCV001156104] | uncertain significance | 5 | 127460371 | 127460371 | Human | 1 | name , trait |
| 28900080 | CV892808 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3131A>C | MEGF10-related myopathy [RCV001156105] | uncertain significance | 5 | 127460449 | 127460449 | Human | 1 | name , trait |
| 28900084 | CV892809 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3153C>T | MEGF10-related myopathy [RCV001156106] | uncertain significance | 5 | 127460471 | 127460471 | Human | 1 | name , trait |
| 28903967 | CV892810 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3191A>T | MEGF10-related myopathy [RCV001157793] | uncertain significance | 5 | 127460509 | 127460509 | Human | 1 | name , trait |
| 28903970 | CV892811 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3238A>C | MEGF10-related myopathy [RCV001157794] | uncertain significance | 5 | 127460556 | 127460556 | Human | 1 | name , trait |
| 28890070 | CV892812 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3614C>T | MEGF10-related myopathy [RCV001152312] | uncertain significance | 5 | 127460932 | 127460932 | Human | 1 | name , trait |
| 28890073 | CV892813 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3715A>G | MEGF10-related myopathy [RCV001152313] | uncertain significance | 5 | 127461033 | 127461033 | Human | 1 | name , trait |
| 28890078 | CV892814 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3770A>G | MEGF10-related myopathy [RCV001152314] | uncertain significance | 5 | 127461088 | 127461088 | Human | 1 | name , trait |
| 28893588 | CV892815 | single nucleotide variant | NM_001256545.2(MEGF10):c.*3865T>C | MEGF10-related myopathy [RCV001153598] | uncertain significance | 5 | 127461183 | 127461183 | Human | 1 | name , trait |
| 38498283 | CV960546 | single nucleotide variant | NM_001256545.2(MEGF10):c.218+5T>C | MEGF10-related myopathy [RCV001243719] | uncertain significance | 5 | 127339226 | 127339226 | Human | 1 | name , trait |
| 126908575 | CV1043212 | single nucleotide variant | NM_001256545.2(MEGF10):c.1694-3C>G | MEGF10-related myopathy [RCV001368011] | uncertain significance | 5 | 127433360 | 127433360 | Human | 1 | name , trait |
| 127301655 | CV1136203 | single nucleotide variant | NM_001256545.2(MEGF10):c.659+10A>T | MEGF10-related myopathy [RCV001498902] | likely benign | 5 | 127396788 | 127396788 | Human | 1 | name , trait |
| 150414075 | CV1176532 | duplication | NM_001256545.2(MEGF10):c.-18-12dup | not provided [RCV001547990] | likely benign | 5 | 127331273 | 127331274 | Human | | name |
| 150418304 | CV1197286 | single nucleotide variant | NM_001256545.2(MEGF10):c.219-30G>A | not provided [RCV001576684] | likely benign | 5 | 127340500 | 127340500 | Human | | name |
| 150489814 | CV1208509 | single nucleotide variant | NM_001256545.2(MEGF10):c.218+42G>A | not provided [RCV001592370] | likely benign | 5 | 127339263 | 127339263 | Human | | name |
| 150481405 | CV1222158 | single nucleotide variant | NM_001256545.2(MEGF10):c.660-73C>T | not provided [RCV001616956] | benign | 5 | 127398603 | 127398603 | Human | | name |
| 150542856 | CV1314981 | single nucleotide variant | NM_001256545.2(MEGF10):c.1131-1G>A | not provided [RCV003487006] | likely pathogenic | 5 | 127417637 | 127417637 | Human | | name |
| 151721944 | CV1347941 | single nucleotide variant | NM_001256545.2(MEGF10):c.1694-2A>G | MEGF10-related myopathy [RCV001966111] | likely pathogenic | 5 | 127433361 | 127433361 | Human | 1 | name , trait |
| 151854388 | CV1372639 | single nucleotide variant | NM_001256545.2(MEGF10):c.1976-9T>G | MEGF10-related myopathy [RCV001996356] | uncertain significance | 5 | 127435352 | 127435352 | Human | 1 | name , trait |
| 151749891 | CV1381018 | single nucleotide variant | NM_001256545.2(MEGF10):c.2980+1G>T | MEGF10-related myopathy [RCV002023271] | likely pathogenic | 5 | 127449223 | 127449223 | Human | 1 | name , trait |
| 151768345 | CV1408150 | single nucleotide variant | NM_001256545.2(MEGF10):c.1426+3A>T | MEGF10-related myopathy [RCV001914736] | uncertain significance | 5 | 127419243 | 127419243 | Human | 1 | name , trait |
| 152117379 | CV1524145 | single nucleotide variant | NM_001256545.2(MEGF10):c.412+20T>C | MEGF10-related myopathy [RCV002135267] | likely benign | 5 | 127370022 | 127370022 | Human | 1 | name , trait |
| 152027751 | CV1529564 | single nucleotide variant | NM_001256545.2(MEGF10):c.412+17T>A | MEGF10-related myopathy [RCV002185607] | likely benign | 5 | 127370019 | 127370019 | Human | 1 | name , trait |
| 152150744 | CV1559539 | single nucleotide variant | NM_001256545.2(MEGF10):c.3025+7T>C | MEGF10-related myopathy [RCV002220774] | likely benign | 5 | 127454617 | 127454617 | Human | 1 | name , trait |
| 152078956 | CV1602231 | single nucleotide variant | NM_001256545.2(MEGF10):c.1427-7C>T | MEGF10-related myopathy [RCV002149053] | likely benign | 5 | 127420037 | 127420037 | Human | 1 | name , trait |
| 152101270 | CV1606852 | single nucleotide variant | NM_001256545.2(MEGF10):c.781-12C>T | MEGF10-related myopathy [RCV002195580] | likely benign | 5 | 127402534 | 127402534 | Human | 1 | name , trait |
| 152049714 | CV1627793 | single nucleotide variant | NM_001256545.2(MEGF10):c.918-11T>C | MEGF10-related myopathy [RCV002108796] | likely benign | 5 | 127410378 | 127410378 | Human | 1 | name , trait |
| 152138350 | CV1657818 | single nucleotide variant | NM_001256545.2(MEGF10):c.412+11A>T | MEGF10-related myopathy [RCV002177718] | likely benign | 5 | 127370013 | 127370013 | Human | 1 | name , trait |
| 152139449 | CV1660604 | single nucleotide variant | NM_001256545.2(MEGF10):c.219-11C>T | MEGF10-related myopathy [RCV002120156] | likely benign | 5 | 127340519 | 127340519 | Human | 1 | name , trait |
| 155946815 | CV1872225 | single nucleotide variant | NM_001256545.2(MEGF10):c.218+11C>T | MEGF10-related myopathy [RCV003073899] | likely benign | 5 | 127339232 | 127339232 | Human | 1 | name , trait |
| 156382079 | CV1890049 | single nucleotide variant | NM_001256545.2(MEGF10):c.116+20C>A | MEGF10-related myopathy [RCV003093363] | likely benign | 5 | 127331444 | 127331444 | Human | 1 | name , trait |
| 156320361 | CV1896813 | single nucleotide variant | NM_001256545.2(MEGF10):c.917+13C>A | MEGF10-related myopathy [RCV003088964] | likely benign | 5 | 127402695 | 127402695 | Human | 1 | name , trait |
| 155982986 | CV1896903 | single nucleotide variant | NM_001256545.2(MEGF10):c.116+16G>T | MEGF10-related myopathy [RCV003097476] | likely benign | 5 | 127331440 | 127331440 | Human | 1 | name , trait |
| 156208821 | CV1906127 | single nucleotide variant | NM_001256545.2(MEGF10):c.1976-7T>G | MEGF10-related myopathy [RCV003084511] | benign | 5 | 127435354 | 127435354 | Human | 1 | name , trait |
| 156413994 | CV1919450 | single nucleotide variant | NM_001256545.2(MEGF10):c.780+11T>G | MEGF10-related myopathy [RCV002588343] | likely benign | 5 | 127398807 | 127398807 | Human | 1 | name , trait |
| 156445117 | CV1945114 | single nucleotide variant | NM_001256545.2(MEGF10):c.3232+1G>A | MEGF10-related myopathy [RCV003116054] | uncertain significance | 5 | 127455608 | 127455608 | Human | 1 | name , trait |
| 156083371 | CV1956339 | single nucleotide variant | NM_001256545.2(MEGF10):c.320-20A>G | MEGF10-related myopathy [RCV002569982] | likely benign | 5 | 127369890 | 127369890 | Human | 1 | name , trait |
| 156321644 | CV2014556 | single nucleotide variant | NM_001256545.2(MEGF10):c.2857-2A>C | MEGF10-related myopathy [RCV002672234] | likely pathogenic | 5 | 127449097 | 127449097 | Human | 1 | name , trait |
| 156065018 | CV2065538 | single nucleotide variant | NM_001256545.2(MEGF10):c.2363-6C>T | MEGF10-related myopathy [RCV002846898] | likely benign | 5 | 127442992 | 127442992 | Human | 1 | name , trait |
| 156319282 | CV2090539 | single nucleotide variant | NM_001256545.2(MEGF10):c.659+16C>T | MEGF10-related myopathy [RCV002899183] | likely benign | 5 | 127396794 | 127396794 | Human | 1 | name , trait |
| 156047579 | CV2091285 | single nucleotide variant | NM_001256545.2(MEGF10):c.2729-4G>T | MEGF10-related myopathy [RCV002886048] | likely benign | 5 | 127447553 | 127447553 | Human | 1 | name , trait |
| 156128150 | CV2112442 | duplication | NM_001256545.2(MEGF10):c.1130+2dup | MEGF10-related myopathy [RCV002928087] | uncertain significance | 5 | 127410602 | 127410603 | Human | 1 | name , trait |
| 155953980 | CV2123703 | single nucleotide variant | NM_001256545.2(MEGF10):c.660-15A>G | MEGF10-related myopathy [RCV002972019] | likely benign | 5 | 127398661 | 127398661 | Human | 1 | name , trait |
| 156095794 | CV2135790 | single nucleotide variant | NM_001256545.2(MEGF10):c.1427-6G>A | MEGF10-related myopathy [RCV003002015]|not provided [RCV004546755] | likely benign|uncertain significance | 5 | 127420038 | 127420038 | Human | 1 | name |
| 156045030 | CV2157683 | single nucleotide variant | NM_001256545.2(MEGF10):c.1975+9C>T | MEGF10-related myopathy [RCV003019202] | likely benign | 5 | 127434830 | 127434830 | Human | 1 | name , trait |
| 156115199 | CV2172539 | single nucleotide variant | NM_001256545.2(MEGF10):c.917+16G>A | MEGF10-related myopathy [RCV003039098] | likely benign | 5 | 127402698 | 127402698 | Human | 1 | name , trait |
| 156341805 | CV2174955 | single nucleotide variant | NM_001256545.2(MEGF10):c.412+17T>C | MEGF10-related myopathy [RCV003047777] | likely benign | 5 | 127370019 | 127370019 | Human | 1 | name , trait |
| 156211591 | CV2175737 | single nucleotide variant | NM_001256545.2(MEGF10):c.319+17C>T | MEGF10-related myopathy [RCV003024826] | likely benign | 5 | 127340647 | 127340647 | Human | 1 | name , trait |
| 243049301 | CV2410032 | single nucleotide variant | NM_001256545.2(MEGF10):c.2104+1G>T | not provided [RCV003491337] | likely pathogenic | 5 | 127435490 | 127435490 | Human | | name |
| 243050928 | CV2417663 | single nucleotide variant | NM_001256545.2(MEGF10):c.2981-2A>G | Congenital myopathy 10b, mild variant [RCV003152534] | pathogenic | 5 | 127454564 | 127454564 | Human | 1 | name |
| 243050850 | CV2417668 | single nucleotide variant | NM_001256545.2(MEGF10):c.1426+1G>T | Congenital myopathy 10b, mild variant [RCV003152539] | pathogenic | 5 | 127419241 | 127419241 | Human | 1 | name |
| 11525638 | CV246971 | single nucleotide variant | NM_001256545.2(MEGF10):c.1130+3G>A | MEGF10-related disorder [RCV004757179]|MEGF10-related myopathy [RCV000541662]|not provided [RCV001722280]|not specified [RCV000238655] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127410604 | 127410604 | Human | 1 | name , trait , alternate_id |
| 11548838 | CV251616 | single nucleotide variant | NM_001256545.2(MEGF10):c.116+10T>C | MEGF10-related myopathy [RCV000365637]|not specified [RCV000249617] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 127331434 | 127331434 | Human | 1 | name |
| 11550501 | CV251619 | single nucleotide variant | NM_001256545.2(MEGF10):c.218+17C>G | MEGF10-related myopathy [RCV001197001]|not provided [RCV004705118]|not specified [RCV000251835] | benign|likely benign | 5 | 127339238 | 127339238 | Human | 1 | name |
| 405025904 | CV2871683 | single nucleotide variant | NM_001256545.2(MEGF10):c.660-13G>T | MEGF10-related myopathy [RCV003528982] | likely benign | 5 | 127398663 | 127398663 | Human | 1 | name , trait |
| 405027612 | CV2876945 | single nucleotide variant | NM_001256545.2(MEGF10):c.659+17C>G | MEGF10-related myopathy [RCV003529119] | likely benign | 5 | 127396795 | 127396795 | Human | 1 | name , trait |
| 405028273 | CV2884636 | single nucleotide variant | NM_001256545.2(MEGF10):c.319+17C>A | MEGF10-related myopathy [RCV003529172] | likely benign | 5 | 127340647 | 127340647 | Human | 1 | name , trait |
| 405028604 | CV2885098 | single nucleotide variant | NM_001256545.2(MEGF10):c.218+16G>A | MEGF10-related myopathy [RCV003529201] | likely benign | 5 | 127339237 | 127339237 | Human | 1 | name , trait |
| 405029751 | CV2892009 | single nucleotide variant | NM_001256545.2(MEGF10):c.2729-7C>G | MEGF10-related myopathy [RCV003529224] | likely benign | 5 | 127447550 | 127447550 | Human | 1 | name , trait |
| 405015725 | CV2921010 | single nucleotide variant | NM_001256545.2(MEGF10):c.117-12A>C | MEGF10-related myopathy [RCV003527717] | likely benign | 5 | 127339108 | 127339108 | Human | 1 | name , trait |
| 402484044 | CV2943254 | single nucleotide variant | NM_001256545.2(MEGF10):c.413-17T>C | MEGF10-related myopathy [RCV003643100] | likely benign | 5 | 127396515 | 127396515 | Human | 1 | name , trait |
| 11589148 | CV295119 | single nucleotide variant | NM_001256545.2(MEGF10):c.-18-11C>T | MEGF10-related myopathy [RCV000308638]|not provided [RCV001698130] | likely benign|uncertain significance | 5 | 127331280 | 127331280 | Human | 1 | name |
| 11584860 | CV295161 | single nucleotide variant | NM_001256545.2(MEGF10):c.3026-8C>T | MEGF10-related disorder [RCV003912494]|MEGF10-related myopathy [RCV000277051]|not provided [RCV000859520]|not specified [RCV000420054] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127455393 | 127455393 | Human | 1 | name , trait , alternate_id |
| 11586729 | CV296952 | single nucleotide variant | NM_001256545.2(MEGF10):c.1841-5T>C | MEGF10-related myopathy [RCV000290088]|not provided [RCV000762160] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 127434682 | 127434682 | Human | 1 | name |
| 11590336 | CV300580 | single nucleotide variant | NM_001256545.2(MEGF10):c.1426+5G>T | MEGF10-related myopathy [RCV000318035] | uncertain significance | 5 | 127419245 | 127419245 | Human | 1 | name , trait |
| 405268320 | CV3189627 | single nucleotide variant | NM_001256545.2(MEGF10):c.3232+8C>T | MEGF10-related disorder [RCV003899018] | likely benign | 5 | 127455615 | 127455615 | Human | | name , trait , alternate_id |
| 596930875 | CV3529717 | single nucleotide variant | NM_001256545.2(MEGF10):c.1840+6T>A | not provided [RCV004780766] | uncertain significance | 5 | 127433515 | 127433515 | Human | | name |
| 12743248 | CV361440 | single nucleotide variant | NM_001256545.2(MEGF10):c.1976-1G>A | not provided [RCV000416216] | likely pathogenic | 5 | 127435360 | 127435360 | Human | | name |
| 12839237 | CV367854 | single nucleotide variant | NM_001256545.2(MEGF10):c.116+12G>C | MEGF10-related myopathy [RCV002521708]|not provided [RCV004705562]|not specified [RCV000428438] | likely benign | 5 | 127331436 | 127331436 | Human | 1 | name |
| 12843038 | CV367859 | single nucleotide variant | NM_001256545.2(MEGF10):c.2857-8T>G | MEGF10-related myopathy [RCV000546776]|not provided [RCV001720176] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 127449091 | 127449091 | Human | 1 | name |
| 597851657 | CV3747033 | single nucleotide variant | NM_001256545.2(MEGF10):c.1694-7A>T | MEGF10-related myopathy [RCV005060661] | likely benign | 5 | 127433356 | 127433356 | Human | 1 | name , trait |
| 597848149 | CV3762103 | single nucleotide variant | NM_001256545.2(MEGF10):c.2491+9A>T | MEGF10-related myopathy [RCV005087521] | likely benign | 5 | 127443135 | 127443135 | Human | 1 | name , trait |
| 597958842 | CV3797392 | single nucleotide variant | NM_001256545.2(MEGF10):c.319+14T>A | MEGF10-related myopathy [RCV005138079] | likely benign | 5 | 127340644 | 127340644 | Human | 1 | name , trait |
| 597959684 | CV3797618 | single nucleotide variant | NM_001256545.2(MEGF10):c.1305+8A>C | MEGF10-related myopathy [RCV005138305] | likely benign | 5 | 127417820 | 127417820 | Human | 1 | name , trait |
| 597947642 | CV3800755 | single nucleotide variant | NM_001256545.2(MEGF10):c.780+12T>C | MEGF10-related myopathy [RCV005135155] | likely benign | 5 | 127398808 | 127398808 | Human | 1 | name , trait |
| 597868779 | CV3838914 | single nucleotide variant | NM_001256545.2(MEGF10):c.660-10A>G | MEGF10-related myopathy [RCV005176210] | likely benign | 5 | 127398666 | 127398666 | Human | 1 | name , trait |
| 597943251 | CV3847638 | single nucleotide variant | NM_001256545.2(MEGF10):c.319+20C>G | MEGF10-related myopathy [RCV005188366] | likely benign | 5 | 127340650 | 127340650 | Human | 1 | name , trait |
| 598125955 | CV3883374 | single nucleotide variant | NM_001256545.2(MEGF10):c.1840+1G>A | Congenital myopathy 10b, mild variant [RCV005233245] | likely pathogenic | 5 | 127433510 | 127433510 | Human | 1 | name |
| 12893178 | CV406615 | duplication | NM_001256545.2(MEGF10):c.2362+2dup | MEGF10-related myopathy [RCV001057190]|not provided [RCV000478036] | likely pathogenic|uncertain significance | 5 | 127440868 | 127440869 | Human | 1 | name |
| 13482886 | CV454342 | single nucleotide variant | NM_001256545.2(MEGF10):c.2857-2A>G | MEGF10-related myopathy [RCV000529609]|not provided [RCV001311667] | likely pathogenic|conflicting interpretations of pathogenicity | 5 | 127449097 | 127449097 | Human | 1 | name |
| 13527705 | CV501127 | single nucleotide variant | NM_001256545.2(MEGF10):c.2980+9T>C | not specified [RCV000599855] | likely benign | 5 | 127449231 | 127449231 | Human | | name |
| 14731550 | CV651272 | single nucleotide variant | NM_001256545.2(MEGF10):c.2104+1G>A | MEGF10-related myopathy [RCV000801464] | likely pathogenic | 5 | 127435490 | 127435490 | Human | 1 | name , trait |
| 14721432 | CV660508 | single nucleotide variant | NM_001256545.2(MEGF10):c.918-80C>G | not provided [RCV000831667] | likely benign | 5 | 127410309 | 127410309 | Human | | name |
| 14743474 | CV660685 | single nucleotide variant | NM_001256545.2(MEGF10):c.2104+7C>A | MEGF10-related myopathy [RCV002068606]|not provided [RCV000842085] | likely benign | 5 | 127435496 | 127435496 | Human | 1 | name |
| 14743473 | CV660769 | single nucleotide variant | NM_001256545.2(MEGF10):c.1840+9C>G | MEGF10-related myopathy [RCV002067548]|not provided [RCV000842084] | likely benign | 5 | 127433518 | 127433518 | Human | 1 | name |
| 15167627 | CV730326 | single nucleotide variant | NM_001256545.2(MEGF10):c.2857-8T>C | MEGF10-related myopathy [RCV002065480] | likely benign | 5 | 127449091 | 127449091 | Human | 1 | name , trait |
| 15161261 | CV759346 | single nucleotide variant | NM_001256545.2(MEGF10):c.2980+8C>G | not provided [RCV000925649] | likely benign | 5 | 127449230 | 127449230 | Human | | name |
| 15101097 | CV775129 | single nucleotide variant | NM_001256545.2(MEGF10):c.2492-7T>C | MEGF10-related myopathy [RCV000936736] | likely benign | 5 | 127445450 | 127445450 | Human | 1 | name , trait |
| 28891843 | CV896024 | single nucleotide variant | NM_001256545.2(MEGF10):c.117-13C>G | MEGF10-related myopathy [RCV001152943] | uncertain significance | 5 | 127339107 | 127339107 | Human | 1 | name , trait |
| 28888561 | CV896025 | single nucleotide variant | NM_001256545.2(MEGF10):c.781-15T>C | MEGF10-related myopathy [RCV001151807] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 127402531 | 127402531 | Human | 1 | name , trait |
| 127278391 | CV1072130 | single nucleotide variant | NM_001256545.2(MEGF10):c.2491+10C>G | MEGF10-related myopathy [RCV001408449] | likely benign | 5 | 127443136 | 127443136 | Human | 1 | name , trait |
| 150335838 | CV1164924 | single nucleotide variant | NM_001256545.2(MEGF10):c.218+188G>C | not provided [RCV001530574] | benign | 5 | 127339409 | 127339409 | Human | | name |
| 150331187 | CV1169072 | single nucleotide variant | NM_001256545.2(MEGF10):c.3232+76T>C | not provided [RCV001536377] | likely benign | 5 | 127455683 | 127455683 | Human | | name |
| 150408036 | CV1176533 | single nucleotide variant | NM_001256545.2(MEGF10):c.659+265A>G | not provided [RCV001545762] | likely benign | 5 | 127397043 | 127397043 | Human | | name |
| 150410890 | CV1176534 | single nucleotide variant | NM_001256545.2(MEGF10):c.660-244T>C | not provided [RCV001546878] | likely benign | 5 | 127398432 | 127398432 | Human | | name |
| 150408557 | CV1176535 | single nucleotide variant | NM_001256545.2(MEGF10):c.1591-89A>G | not provided [RCV001545950] | likely benign | 5 | 127422581 | 127422581 | Human | | name |
| 150414971 | CV1176536 | single nucleotide variant | NM_001256545.2(MEGF10):c.2105-80T>C | not provided [RCV001548370] | likely benign | 5 | 127438359 | 127438359 | Human | | name |
| 150417524 | CV1179906 | single nucleotide variant | NM_001256545.2(MEGF10):c.117-172C>T | not provided [RCV001550166] | likely benign | 5 | 127338948 | 127338948 | Human | | name |
| 150416276 | CV1179907 | single nucleotide variant | NM_001256545.2(MEGF10):c.1975+60C>T | not provided [RCV001549537] | likely benign | 5 | 127434881 | 127434881 | Human | | name |
| 150426512 | CV1186816 | single nucleotide variant | NM_001256545.2(MEGF10):c.413-328C>G | not provided [RCV001559669] | likely benign | 5 | 127396204 | 127396204 | Human | | name |
| 150407561 | CV1193507 | single nucleotide variant | NM_001256545.2(MEGF10):c.412+127C>G | not provided [RCV001572378] | likely benign | 5 | 127370129 | 127370129 | Human | | name |
| 150416942 | CV1193508 | duplication | NM_001256545.2(MEGF10):c.917+230dup | not provided [RCV001568557] | likely benign | 5 | 127402904 | 127402905 | Human | | name |
| 150432083 | CV1200528 | single nucleotide variant | NM_001256545.2(MEGF10):c.412+135G>T | not provided [RCV001581251] | likely benign | 5 | 127370137 | 127370137 | Human | | name |
| 150486856 | CV1203365 | single nucleotide variant | NM_001256545.2(MEGF10):c.659+153A>C | not provided [RCV001591543] | likely benign | 5 | 127396931 | 127396931 | Human | | name |
| 150460814 | CV1205827 | single nucleotide variant | NM_001256545.2(MEGF10):c.3232+40T>C | not provided [RCV001586784] | likely benign | 5 | 127455647 | 127455647 | Human | | name |
| 150506467 | CV1212214 | single nucleotide variant | NM_001256545.2(MEGF10):c.412+226G>A | not provided [RCV001596045] | benign | 5 | 127370228 | 127370228 | Human | | name |
| 150482744 | CV1223475 | single nucleotide variant | NM_001256545.2(MEGF10):c.3233-58T>C | not provided [RCV001617188] | benign | 5 | 127457070 | 127457070 | Human | | name |
| 150517214 | CV1226662 | single nucleotide variant | NM_001256545.2(MEGF10):c.660-101A>G | not provided [RCV001639756] | benign | 5 | 127398575 | 127398575 | Human | | name |
| 150477062 | CV1251958 | single nucleotide variant | NM_001256545.2(MEGF10):c.2362+64T>G | not provided [RCV001672157] | benign | 5 | 127440931 | 127440931 | Human | | name |
| 150513007 | CV1285021 | single nucleotide variant | NM_001256545.2(MEGF10):c.1975+43C>T | not provided [RCV001721890] | benign | 5 | 127434864 | 127434864 | Human | | name |
| 152111997 | CV1520578 | single nucleotide variant | NM_001256545.2(MEGF10):c.2233+15T>G | MEGF10-related myopathy [RCV002196898] | likely benign | 5 | 127438582 | 127438582 | Human | 1 | name , trait |
| 152148612 | CV1528905 | single nucleotide variant | NM_001256545.2(MEGF10):c.1693+17G>A | MEGF10-related myopathy [RCV002101871] | likely benign | 5 | 127422789 | 127422789 | Human | 1 | name , trait |
| 152153129 | CV1545264 | single nucleotide variant | NM_001256545.2(MEGF10):c.1694-11C>T | MEGF10-related myopathy [RCV002139824] | likely benign | 5 | 127433352 | 127433352 | Human | 1 | name , trait |
| 152154546 | CV1550616 | single nucleotide variant | NM_001256545.2(MEGF10):c.1840+20G>A | MEGF10-related myopathy [RCV002140003] | likely benign | 5 | 127433529 | 127433529 | Human | 1 | name , trait |
| 152094953 | CV1561867 | single nucleotide variant | NM_001256545.2(MEGF10):c.2728+17G>A | MEGF10-related myopathy [RCV002194793] | likely benign | 5 | 127445710 | 127445710 | Human | 1 | name , trait |
| 152137536 | CV1563409 | single nucleotide variant | NM_001256545.2(MEGF10):c.1694-19C>T | MEGF10-related myopathy [RCV002200147] | likely benign | 5 | 127433344 | 127433344 | Human | 1 | name , trait |
| 152030161 | CV1566040 | single nucleotide variant | NM_001256545.2(MEGF10):c.1840+11C>T | MEGF10-related myopathy [RCV002086051] | likely benign | 5 | 127433520 | 127433520 | Human | 1 | name , trait |
| 152154560 | CV1579499 | single nucleotide variant | NM_001256545.2(MEGF10):c.3025+16G>C | MEGF10-related myopathy [RCV002158676] | likely benign | 5 | 127454626 | 127454626 | Human | 1 | name , trait |
| 152028468 | CV1586947 | single nucleotide variant | NM_001256545.2(MEGF10):c.3026-14A>T | MEGF10-related myopathy [RCV002085473] | likely benign | 5 | 127455387 | 127455387 | Human | 1 | name , trait |
| 152058622 | CV1597230 | single nucleotide variant | NM_001256545.2(MEGF10):c.2104+20A>C | MEGF10-related myopathy [RCV002128078] | benign | 5 | 127435509 | 127435509 | Human | 1 | name , trait |
| 152151098 | CV1598224 | single nucleotide variant | NM_001256545.2(MEGF10):c.1590+16C>T | MEGF10-related myopathy [RCV002121753] | likely benign | 5 | 127420223 | 127420223 | Human | 1 | name , trait |
| 152082855 | CV1608146 | single nucleotide variant | NM_001256545.2(MEGF10):c.1975+20G>A | MEGF10-related myopathy [RCV002193251] | likely benign | 5 | 127434841 | 127434841 | Human | 1 | name , trait |
| 152073479 | CV1615443 | single nucleotide variant | NM_001256545.2(MEGF10):c.1426+19G>A | MEGF10-related myopathy [RCV002091908] | likely benign | 5 | 127419259 | 127419259 | Human | 1 | name , trait |
| 152048472 | CV1622982 | single nucleotide variant | NM_001256545.2(MEGF10):c.2492-16T>C | MEGF10-related myopathy [RCV002126933] | likely benign | 5 | 127445441 | 127445441 | Human | 1 | name , trait |
| 152114066 | CV1624050 | single nucleotide variant | NM_001256545.2(MEGF10):c.2492-15C>T | MEGF10-related myopathy [RCV002134865] | likely benign | 5 | 127445442 | 127445442 | Human | 1 | name , trait |
| 152078104 | CV1632987 | single nucleotide variant | NM_001256545.2(MEGF10):c.2234-10C>T | MEGF10-related myopathy [RCV002170193] | likely benign | 5 | 127440729 | 127440729 | Human | 1 | name , trait |
| 152173235 | CV1637648 | single nucleotide variant | NM_001256545.2(MEGF10):c.3025+14T>C | MEGF10-related myopathy [RCV002162734] | likely benign | 5 | 127454624 | 127454624 | Human | 1 | name , trait |
| 152148389 | CV1640301 | single nucleotide variant | NM_001256545.2(MEGF10):c.3025+16G>T | MEGF10-related myopathy [RCV002157786] | likely benign | 5 | 127454626 | 127454626 | Human | 1 | name , trait |
| 152090611 | CV1654877 | single nucleotide variant | NM_001256545.2(MEGF10):c.1693+11A>C | MEGF10-related myopathy [RCV002212671] | likely benign | 5 | 127422783 | 127422783 | Human | 1 | name , trait |
| 155945965 | CV1875527 | single nucleotide variant | NM_001256545.2(MEGF10):c.1694-16A>G | MEGF10-related myopathy [RCV003073847] | likely benign | 5 | 127433347 | 127433347 | Human | 1 | name , trait |
| 156392381 | CV1879791 | single nucleotide variant | NM_001256545.2(MEGF10):c.1693+16C>T | MEGF10-related myopathy [RCV003068175] | likely benign | 5 | 127422788 | 127422788 | Human | 1 | name , trait |
| 155964929 | CV1882018 | single nucleotide variant | NM_001256545.2(MEGF10):c.2857-20G>A | MEGF10-related myopathy [RCV003074882] | likely benign | 5 | 127449079 | 127449079 | Human | 1 | name , trait |
| 156338600 | CV1902442 | single nucleotide variant | NM_001256545.2(MEGF10):c.1306-10G>T | MEGF10-related myopathy [RCV003090220] | likely benign | 5 | 127419110 | 127419110 | Human | 1 | name , trait |
| 156043665 | CV1927000 | single nucleotide variant | NM_001256545.2(MEGF10):c.1694-15T>C | MEGF10-related myopathy [RCV002637680] | likely benign | 5 | 127433348 | 127433348 | Human | 1 | name , trait |
| 156169558 | CV1930124 | single nucleotide variant | NM_001256545.2(MEGF10):c.2857-14T>A | MEGF10-related myopathy [RCV002624659]|MEGF10-related myopathy [RCV005034802] | likely benign|uncertain significance | 5 | 127449085 | 127449085 | Human | 1 | name , trait |
| 156389860 | CV1996137 | single nucleotide variant | NM_001256545.2(MEGF10):c.1305+11A>G | MEGF10-related myopathy [RCV002654269] | likely benign | 5 | 127417823 | 127417823 | Human | 1 | name , trait |
| 155913319 | CV2021825 | single nucleotide variant | NM_001256545.2(MEGF10):c.1130+16C>G | MEGF10-related myopathy [RCV002726959] | likely benign | 5 | 127410617 | 127410617 | Human | 1 | name , trait |
| 156128876 | CV2036462 | single nucleotide variant | NM_001256545.2(MEGF10):c.2362+17G>T | MEGF10-related myopathy [RCV002786089] | likely benign | 5 | 127440884 | 127440884 | Human | 1 | name , trait |
| 156229010 | CV2048584 | single nucleotide variant | NM_001256545.2(MEGF10):c.1590+17G>A | MEGF10-related myopathy [RCV002790920] | likely benign | 5 | 127420224 | 127420224 | Human | 1 | name , trait |
| 156090410 | CV2056968 | single nucleotide variant | NM_001256545.2(MEGF10):c.3232+14A>C | MEGF10-related myopathy [RCV002824162] | likely benign | 5 | 127455621 | 127455621 | Human | 1 | name , trait |
| 156180017 | CV2062368 | single nucleotide variant | NM_001256545.2(MEGF10):c.2728+18A>G | MEGF10-related myopathy [RCV002828273] | likely benign | 5 | 127445711 | 127445711 | Human | 1 | name , trait |
| 155978967 | CV2081815 | single nucleotide variant | NM_001256545.2(MEGF10):c.1305+14G>A | MEGF10-related myopathy [RCV002863673] | likely benign | 5 | 127417826 | 127417826 | Human | 1 | name , trait |
| 156245361 | CV2105594 | single nucleotide variant | NM_001256545.2(MEGF10):c.3232+16C>G | MEGF10-related myopathy [RCV002933350] | likely benign | 5 | 127455623 | 127455623 | Human | 1 | name , trait |
| 156002434 | CV2106848 | single nucleotide variant | NM_001256545.2(MEGF10):c.1306-16A>G | MEGF10-related myopathy [RCV002947856] | likely benign | 5 | 127419104 | 127419104 | Human | 1 | name , trait |
| 156115656 | CV2117521 | single nucleotide variant | NM_001256545.2(MEGF10):c.2857-13A>T | MEGF10-related myopathy [RCV002953296] | likely benign | 5 | 127449086 | 127449086 | Human | 1 | name , trait |
| 156233664 | CV2118306 | single nucleotide variant | NM_001256545.2(MEGF10):c.3025+19G>C | MEGF10-related myopathy [RCV002958607] | likely benign | 5 | 127454629 | 127454629 | Human | 1 | name , trait |
| 155959206 | CV2131670 | single nucleotide variant | NM_001256545.2(MEGF10):c.1975+19C>T | MEGF10-related myopathy [RCV002995069] | likely benign | 5 | 127434840 | 127434840 | Human | 1 | name , trait |
| 405026047 | CV2868344 | single nucleotide variant | NM_001256545.2(MEGF10):c.2980+15C>T | MEGF10-related myopathy [RCV003528994] | likely benign | 5 | 127449237 | 127449237 | Human | 1 | name , trait |
| 405026054 | CV2868376 | single nucleotide variant | NM_001256545.2(MEGF10):c.2981-18T>A | MEGF10-related myopathy [RCV003528995] | likely benign | 5 | 127454548 | 127454548 | Human | 1 | name , trait |
| 405028908 | CV2882111 | single nucleotide variant | NM_001256545.2(MEGF10):c.1693+14A>T | MEGF10-related myopathy [RCV003529250] | likely benign | 5 | 127422786 | 127422786 | Human | 1 | name , trait |
| 405031927 | CV2899207 | single nucleotide variant | NM_001256545.2(MEGF10):c.1975+20G>C | MEGF10-related myopathy [RCV003529502] | likely benign | 5 | 127434841 | 127434841 | Human | 1 | name , trait |
| 405016680 | CV2911497 | single nucleotide variant | NM_001256545.2(MEGF10):c.2362+14T>C | MEGF10-related myopathy [RCV003527801] | likely benign | 5 | 127440881 | 127440881 | Human | 1 | name , trait |
| 405016259 | CV2921606 | single nucleotide variant | NM_001256545.2(MEGF10):c.2980+20G>A | MEGF10-related myopathy [RCV003527775] | likely benign | 5 | 127449242 | 127449242 | Human | 1 | name , trait |
| 405016298 | CV2921921 | single nucleotide variant | NM_001256545.2(MEGF10):c.2104+17A>T | MEGF10-related myopathy [RCV003527780] | likely benign | 5 | 127435506 | 127435506 | Human | 1 | name , trait |
| 402484098 | CV2940019 | single nucleotide variant | NM_001256545.2(MEGF10):c.3233-13T>C | MEGF10-related myopathy [RCV003643105] | likely benign | 5 | 127457115 | 127457115 | Human | 1 | name , trait |
| 11587530 | CV297005 | microsatellite | NM_001256545.2(MEGF10):c.*3522CA[1] | MEGF10-related myopathy [RCV000295912] | likely benign | 5 | 127460840 | 127460841 | Human | | name , trait |
| 11595483 | CV300772 | single nucleotide variant | NM_001256545.2(MEGF10):c.2980+14A>G | MEGF10-related myopathy [RCV000371159] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 127449236 | 127449236 | Human | 1 | name , trait |
| 402478489 | CV3036537 | single nucleotide variant | NM_001256545.2(MEGF10):c.2363-10C>G | MEGF10-related myopathy [RCV003642420] | likely benign | 5 | 127442988 | 127442988 | Human | 1 | name , trait |
| 402486626 | CV3074008 | single nucleotide variant | NM_001256545.2(MEGF10):c.1841-20G>T | MEGF10-related myopathy [RCV003643379] | likely benign | 5 | 127434667 | 127434667 | Human | 1 | name , trait |
| 405181645 | CV3147585 | single nucleotide variant | NM_001256545.2(MEGF10):c.1694-17C>T | MEGF10-related myopathy [RCV003842487] | likely benign | 5 | 127433346 | 127433346 | Human | 1 | name , trait |
| 405223028 | CV3158356 | single nucleotide variant | NM_001256545.2(MEGF10):c.3026-20C>T | MEGF10-related myopathy [RCV003863852] | likely benign | 5 | 127455381 | 127455381 | Human | 1 | name , trait |
| 405208517 | CV3162467 | single nucleotide variant | NM_001256545.2(MEGF10):c.3026-17C>T | MEGF10-related myopathy [RCV003861766] | likely benign | 5 | 127455384 | 127455384 | Human | 1 | name , trait |
| 405152236 | CV3162996 | single nucleotide variant | NM_001256545.2(MEGF10):c.2104+14G>C | MEGF10-related myopathy [RCV003856439] | likely benign | 5 | 127435503 | 127435503 | Human | 1 | name , trait |
| 405236210 | CV3166440 | single nucleotide variant | NM_001256545.2(MEGF10):c.1840+16G>A | MEGF10-related myopathy [RCV003853889] | likely benign | 5 | 127433525 | 127433525 | Human | 1 | name , trait |
| 405236035 | CV3168962 | single nucleotide variant | NM_001256545.2(MEGF10):c.2856+13G>C | MEGF10-related myopathy [RCV003866241] | likely benign | 5 | 127447697 | 127447697 | Human | 1 | name , trait |
| 12833016 | CV368213 | single nucleotide variant | NM_001256545.2(MEGF10):c.1841-20G>A | MEGF10-related myopathy [RCV002065023]|not specified [RCV000417691] | benign | 5 | 127434667 | 127434667 | Human | 1 | name |
| 597923821 | CV3748419 | single nucleotide variant | NM_001256545.2(MEGF10):c.1427-15G>A | MEGF10-related myopathy [RCV005075066] | likely benign | 5 | 127420029 | 127420029 | Human | 1 | name , trait |
| 597964565 | CV3754386 | single nucleotide variant | NM_001256545.2(MEGF10):c.3025+19G>A | MEGF10-related myopathy [RCV005082493] | likely benign | 5 | 127454629 | 127454629 | Human | 1 | name , trait |
| 597857312 | CV3769480 | single nucleotide variant | NM_001256545.2(MEGF10):c.1306-12G>T | MEGF10-related myopathy [RCV005105521] | likely benign | 5 | 127419108 | 127419108 | Human | 1 | name , trait |
| 597855425 | CV3816443 | single nucleotide variant | NM_001256545.2(MEGF10):c.2492-18T>C | MEGF10-related myopathy [RCV005146015] | likely benign | 5 | 127445439 | 127445439 | Human | 1 | name , trait |
| 597842795 | CV3831090 | single nucleotide variant | NM_001256545.2(MEGF10):c.2856+20G>A | MEGF10-related myopathy [RCV005172471] | likely benign | 5 | 127447704 | 127447704 | Human | 1 | name , trait |
| 597942455 | CV3847258 | single nucleotide variant | NM_001256545.2(MEGF10):c.2234-20T>C | MEGF10-related myopathy [RCV005188178] | likely benign | 5 | 127440719 | 127440719 | Human | 1 | name , trait |
| 597865429 | CV3861215 | single nucleotide variant | NM_001256545.2(MEGF10):c.2980+17C>G | MEGF10-related myopathy [RCV005196563] | likely benign | 5 | 127449239 | 127449239 | Human | 1 | name , trait |
| 13538408 | CV500947 | single nucleotide variant | NM_001256545.2(MEGF10):c.1130+12C>T | MEGF10-related myopathy [RCV002062943]|not specified [RCV000611794] | likely benign | 5 | 127410613 | 127410613 | Human | 1 | name |
| 13537776 | CV501110 | single nucleotide variant | NM_001256545.2(MEGF10):c.1130+13T>C | MEGF10-related myopathy [RCV002064298]|not specified [RCV000610872] | likely benign | 5 | 127410614 | 127410614 | Human | 1 | name |
| 13530021 | CV501128 | single nucleotide variant | NM_001256545.2(MEGF10):c.2980+16G>A | MEGF10-related myopathy [RCV002064299]|not specified [RCV000600533] | likely benign | 5 | 127449238 | 127449238 | Human | 1 | name |
| 13526422 | CV501265 | single nucleotide variant | NM_001256545.2(MEGF10):c.1975+10G>A | MEGF10-related disorder [RCV003935678]|MEGF10-related myopathy [RCV000649877]|not provided [RCV001697882] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 127434831 | 127434831 | Human | 1 | name , trait , alternate_id |
| 13622510 | CV520876 | single nucleotide variant | NM_001256545.2(MEGF10):c.3232+10C>T | MEGF10-related myopathy [RCV000649875] | likely benign | 5 | 127455617 | 127455617 | Human | 1 | name , trait |
| 14721349 | CV660495 | single nucleotide variant | NM_001256545.2(MEGF10):c.-18-179A>G | not provided [RCV000831636] | likely benign | 5 | 127331112 | 127331112 | Human | | name |
| 14745352 | CV660497 | single nucleotide variant | NM_001256545.2(MEGF10):c.218+155G>A | not provided [RCV000843311] | benign | 5 | 127339376 | 127339376 | Human | | name |
| 14722178 | CV660499 | single nucleotide variant | NM_001256545.2(MEGF10):c.413-267A>G | not provided [RCV000831991] | likely benign | 5 | 127396265 | 127396265 | Human | | name |
| 14732960 | CV660502 | single nucleotide variant | NM_001256545.2(MEGF10):c.780+240G>A | not provided [RCV000836883] | likely benign | 5 | 127399036 | 127399036 | Human | | name |
| 14721427 | CV660507 | single nucleotide variant | NM_001256545.2(MEGF10):c.918-141G>C | not provided [RCV000831665] | likely benign | 5 | 127410248 | 127410248 | Human | | name |
| 14721444 | CV660524 | single nucleotide variant | NM_001256545.2(MEGF10):c.2728+61T>C | not provided [RCV000831672] | benign | 5 | 127445754 | 127445754 | Human | | name |
| 14716080 | CV660675 | single nucleotide variant | NM_001256545.2(MEGF10):c.319+206T>C | not provided [RCV000829610] | benign | 5 | 127340836 | 127340836 | Human | | name |
| 14745403 | CV660679 | single nucleotide variant | NM_001256545.2(MEGF10):c.781-197A>C | not provided [RCV000843335] | benign | 5 | 127402349 | 127402349 | Human | | name |
| 14745400 | CV660753 | single nucleotide variant | NM_001256545.2(MEGF10):c.319+232A>G | not provided [RCV000843332] | benign | 5 | 127340862 | 127340862 | Human | | name |
| 14719214 | CV660754 | single nucleotide variant | NM_001256545.2(MEGF10):c.659+302T>G | not provided [RCV000830678] | benign | 5 | 127397080 | 127397080 | Human | | name |
| 14722658 | CV660758 | single nucleotide variant | NM_001256545.2(MEGF10):c.780+224C>T | not provided [RCV000832196] | likely benign | 5 | 127399020 | 127399020 | Human | 1 | name |
| 14722658 | CV660758 | single nucleotide variant | NM_001256545.2(MEGF10):c.780+224C>T | not provided [RCV000832196] | likely benign | 5 | 127399020 | 127399021 | Human | 1 | name |
| 14721424 | CV660764 | single nucleotide variant | NM_001256545.2(MEGF10):c.918-148T>C | not provided [RCV000831664] | likely benign | 5 | 127410241 | 127410241 | Human | | name |
| 14721353 | CV660856 | single nucleotide variant | NM_001256545.2(MEGF10):c.116+152G>A | not provided [RCV000831637] | likely benign | 5 | 127331576 | 127331576 | Human | | name |
| 14745350 | CV660863 | single nucleotide variant | NM_001256545.2(MEGF10):c.117-199A>G | not provided [RCV000843310] | benign | 5 | 127338921 | 127338921 | Human | | name |
| 14721441 | CV660884 | single nucleotide variant | NM_001256545.2(MEGF10):c.2491+32C>T | not provided [RCV000831671] | benign | 5 | 127443158 | 127443158 | Human | | name |
| 150414349 | CV1190262 | single nucleotide variant | NM_001256545.2(MEGF10):c.1841-283T>C | not provided [RCV001567492] | likely benign | 5 | 127434404 | 127434404 | Human | | name |
| 150414631 | CV1190263 | single nucleotide variant | NM_001256545.2(MEGF10):c.1975+260C>A | not provided [RCV001567626] | likely benign | 5 | 127435081 | 127435081 | Human | | name |
| 150417061 | CV1193509 | single nucleotide variant | NM_001256545.2(MEGF10):c.1305+111C>G | not provided [RCV001568608] | likely benign | 5 | 127417923 | 127417923 | Human | | name |
| 150419386 | CV1193510 | single nucleotide variant | NM_001256545.2(MEGF10):c.1427-197T>A | not provided [RCV001569662] | likely benign | 5 | 127419847 | 127419847 | Human | | name |
| 150407592 | CV1193511 | single nucleotide variant | NM_001256545.2(MEGF10):c.1694-278C>G | not provided [RCV001572387] | likely benign | 5 | 127433085 | 127433085 | Human | | name |
| 150416730 | CV1193512 | single nucleotide variant | NM_001256545.2(MEGF10):c.3233-176A>G | not provided [RCV001568470] | likely benign | 5 | 127456952 | 127456952 | Human | | name |
| 150416723 | CV1197287 | single nucleotide variant | NM_001256545.2(MEGF10):c.1426+124G>A | not provided [RCV001576002] | likely benign | 5 | 127419364 | 127419364 | Human | | name |
| 150414795 | CV1197288 | single nucleotide variant | NM_001256545.2(MEGF10):c.2491+210T>A | not provided [RCV001575117] | likely benign | 5 | 127443336 | 127443336 | Human | | name |
| 150439194 | CV1201518 | single nucleotide variant | NM_001256545.2(MEGF10):c.1590+114G>A | not provided [RCV001583330] | likely benign | 5 | 127420321 | 127420321 | Human | | name |
| 150433806 | CV1204190 | single nucleotide variant | NM_001256545.2(MEGF10):c.2981-272A>G | not provided [RCV001581939] | likely benign | 5 | 127454294 | 127454294 | Human | | name |
| 150496764 | CV1208638 | single nucleotide variant | NM_001256545.2(MEGF10):c.1130+206A>G | not provided [RCV001593854] | likely benign | 5 | 127410807 | 127410807 | Human | | name |
| 150471952 | CV1209650 | single nucleotide variant | NM_001256545.2(MEGF10):c.2104+252C>T | not provided [RCV001588761] | likely benign | 5 | 127435741 | 127435741 | Human | | name |
| 150503314 | CV1212455 | duplication | NM_001256545.2(MEGF10):c.1306-278dup | not provided [RCV001595330] | benign | 5 | 127418840 | 127418841 | Human | | name |
| 150446749 | CV1215703 | single nucleotide variant | NM_001256545.2(MEGF10):c.1131-280C>A | not provided [RCV001611296] | benign | 5 | 127417358 | 127417358 | Human | | name |
| 150456073 | CV1220555 | single nucleotide variant | NM_001256545.2(MEGF10):c.3026-125A>T | not provided [RCV001612648] | benign | 5 | 127455276 | 127455276 | Human | | name |
| 150485016 | CV1222616 | deletion | NM_001256545.2(MEGF10):c.-19+8702del | not provided [RCV001617619] | benign | 5 | 127299746 | 127299746 | Human | | name |
| 150501909 | CV1224328 | single nucleotide variant | NM_001256545.2(MEGF10):c.2728+183G>A | not provided [RCV001620969] | benign | 5 | 127445876 | 127445876 | Human | | name |
| 150517525 | CV1226976 | deletion | NM_001256545.2(MEGF10):c.2857-292del | not provided [RCV001640072] | benign | 5 | 127448791 | 127448791 | Human | | name |
| 150436564 | CV1270977 | duplication | NM_001256545.2(MEGF10):c.2857-292dup | not provided [RCV001689527] | benign | 5 | 127448790 | 127448791 | Human | | name |
| 150497177 | CV1283507 | deletion | NM_001256545.2(MEGF10):c.2104+163del | not provided [RCV001717809] | benign | 5 | 127435642 | 127435642 | Human | | name |
| 150512998 | CV1285018 | single nucleotide variant | NM_001256545.2(MEGF10):c.-19+8919G>C | not provided [RCV001721887] | benign | 5 | 127299975 | 127299975 | Human | | name |
| 150504120 | CV1285893 | single nucleotide variant | NM_001256545.2(MEGF10):c.2856+181C>A | not provided [RCV001719316] | benign | 5 | 127447865 | 127447865 | Human | | name |
| 12834218 | CV368122 | single nucleotide variant | NM_001256545.2(MEGF10):c.-19+8943A>G | MEGF10-related myopathy [RCV001151703]|not specified [RCV000419987] | benign|likely benign | 5 | 127299999 | 127299999 | Human | 1 | name |
| 12842520 | CV368124 | single nucleotide variant | NM_001256545.2(MEGF10):c.-19+8977C>T | not specified [RCV000434571] | likely benign | 5 | 127300033 | 127300033 | Human | | name |
| 12846126 | CV369506 | single nucleotide variant | NM_001256545.2(MEGF10):c.-19+8933A>G | not specified [RCV000441072] | likely benign | 5 | 127299989 | 127299989 | Human | | name |
| 598125957 | CV3883375 | single nucleotide variant | NM_001256545.2(MEGF10):c.2233+758C>T | Congenital myopathy 10b, mild variant [RCV005233246] | likely pathogenic | 5 | 127439325 | 127439325 | Human | 1 | name |
| 14745404 | CV660509 | single nucleotide variant | NM_001256545.2(MEGF10):c.1130+141G>A | not provided [RCV000843336] | benign | 5 | 127410742 | 127410742 | Human | | name |
| 14725050 | CV660523 | single nucleotide variant | NM_001256545.2(MEGF10):c.1590+262T>A | not provided [RCV000833261] | likely benign | 5 | 127420469 | 127420469 | Human | | name |
| 14724736 | CV660532 | single nucleotide variant | NM_001256545.2(MEGF10):c.2729-279C>T | not provided [RCV000833118] | likely benign | 5 | 127447278 | 127447278 | Human | | name |
| 14722663 | CV660538 | single nucleotide variant | NM_001256545.2(MEGF10):c.2981-165G>A | not provided [RCV000832198] | likely benign | 5 | 127454401 | 127454401 | Human | | name |
| 14711957 | CV660671 | single nucleotide variant | NM_001256545.2(MEGF10):c.-19+8927A>T | not provided [RCV000828222] | likely benign | 5 | 127299983 | 127299983 | Human | | name |
| 14719224 | CV660683 | single nucleotide variant | NM_001256545.2(MEGF10):c.1590+296G>C | not provided [RCV000830682] | benign | 5 | 127420503 | 127420503 | Human | | name |
| 14724296 | CV660690 | single nucleotide variant | NM_001256545.2(MEGF10):c.2857-329A>G | not provided [RCV000832920] | likely benign | 5 | 127448770 | 127448770 | Human | | name |
| 14721447 | CV660692 | single nucleotide variant | NM_001256545.2(MEGF10):c.2980+249G>C | not provided [RCV000831673] | likely benign | 5 | 127449471 | 127449471 | Human | | name |
| 14724298 | CV660695 | single nucleotide variant | NM_001256545.2(MEGF10):c.3025+253A>G | not provided [RCV000832921] | likely benign | 5 | 127454863 | 127454863 | Human | | name |
| 14722661 | CV660767 | single nucleotide variant | NM_001256545.2(MEGF10):c.1693+181G>A | not provided [RCV000832197] | likely benign | 5 | 127422953 | 127422953 | Human | | name |
| 14721439 | CV660773 | single nucleotide variant | NM_001256545.2(MEGF10):c.2234-124T>C | not provided [RCV000831670] | benign | 5 | 127440615 | 127440615 | Human | | name |
| 14710995 | CV660774 | single nucleotide variant | NM_001256545.2(MEGF10):c.2729-279C>A | not provided [RCV000827890] | likely benign | 5 | 127447278 | 127447278 | Human | | name |
| 14719282 | CV660775 | single nucleotide variant | NM_001256545.2(MEGF10):c.3026-252T>G | not provided [RCV000830705] | benign | 5 | 127455149 | 127455149 | Human | | name |
| 14724305 | CV660777 | single nucleotide variant | NM_001256545.2(MEGF10):c.3233-299C>T | not provided [RCV000832924] | likely benign | 5 | 127456829 | 127456829 | Human | | name |
| 14724733 | CV660865 | single nucleotide variant | NM_001256545.2(MEGF10):c.2105-322G>T | not provided [RCV000833117] | benign | 5 | 127438117 | 127438117 | Human | | name |
| 14719228 | CV660868 | single nucleotide variant | NM_001256545.2(MEGF10):c.2105-272A>C | not provided [RCV000830684] | benign | 5 | 127438167 | 127438167 | Human | | name |
| 14721437 | CV660872 | single nucleotide variant | NM_001256545.2(MEGF10):c.2105-103C>T | not provided [RCV000831669] | likely benign | 5 | 127438336 | 127438336 | Human | | name |
| 14724293 | CV660891 | single nucleotide variant | NM_001256545.2(MEGF10):c.2491+303A>G | not provided [RCV000832919] | likely benign | 5 | 127443429 | 127443429 | Human | | name |
| 14724301 | CV660898 | single nucleotide variant | NM_001256545.2(MEGF10):c.3026-272A>G | not provided [RCV000832922] | likely benign | 5 | 127455129 | 127455129 | Human | | name |
| 14722733 | CV660901 | single nucleotide variant | NM_001256545.2(MEGF10):c.3232+220C>G | not provided [RCV000832228] | likely benign | 5 | 127455827 | 127455827 | Human | | name |
| 28888244 | CV896023 | single nucleotide variant | NM_001256545.2(MEGF10):c.-19+8996T>G | MEGF10-related myopathy [RCV001151704] | uncertain significance | 5 | 127300052 | 127300052 | Human | 1 | name , trait |
| 14724289 | CV660498 | microsatellite | NM_001256545.2(MEGF10):c.219-333GA[3] | not provided [RCV000832917] | benign | 5 | 127340196 | 127340197 | Human | | name |
| 597910059 | CV3854160 | deletion | NM_001256545.2(MEGF10):c.481_659+98del | MEGF10-related myopathy [RCV005203428] | likely pathogenic | 5 | 127396597 | 127396873 | Human | 1 | name , trait |
| 597881753 | CV3763872 | deletion | NM_001256545.2(MEGF10):c.3228_3232+4del | MEGF10-related myopathy [RCV005109272] | uncertain significance | 5 | 127455600 | 127455608 | Human | 1 | name , trait |
| 11583708 | CV296950 | insertion | NM_001256545.2(MEGF10):c.117-5_117-4insC | MEGF10-related myopathy [RCV000268694]|not provided [RCV001706568] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127339115 | 127339116 | Human | 1 | name |
| 15102364 | CV749177 | single nucleotide variant | NM_001256545.2(MEGF10):c.15G>A (p.Leu5=) | not provided [RCV000914953] | likely benign | 5 | 127331323 | 127331323 | Human | | name |
| 127235695 | CV1072125 | single nucleotide variant | NM_001256545.2(MEGF10):c.99G>A (p.Val33=) | MEGF10-related myopathy [RCV001414532] | likely benign | 5 | 127331407 | 127331407 | Human | 1 | name , trait |
| 127270158 | CV1093722 | single nucleotide variant | NM_001256545.2(MEGF10):c.90C>T (p.Asp30=) | MEGF10-related myopathy [RCV001430521] | likely benign | 5 | 127331398 | 127331398 | Human | 1 | name , trait |
| 127325841 | CV1136201 | single nucleotide variant | NM_001256545.2(MEGF10):c.42A>G (p.Leu14=) | MEGF10-related myopathy [RCV001506118] | likely benign | 5 | 127331350 | 127331350 | Human | 1 | name , trait |
| 8580344 | CV114774 | single nucleotide variant | NM_032446.2(MEGF10):c.2373A>C (p.Ser791=) | Lung cancer [RCV000095297] | uncertain significance | 5 | 127443008 | 127443008 | Human | | name |
| 150496721 | CV1283399 | microsatellite | NM_001256545.2(MEGF10):c.3232+117TATTT[7] | not provided [RCV001717725] | benign | 5 | 127455723 | 127455724 | Human | | name |
| 152101077 | CV1648968 | single nucleotide variant | NM_001256545.2(MEGF10):c.51C>T (p.Cys17=) | MEGF10-related myopathy [RCV002214014] | likely benign | 5 | 127331359 | 127331359 | Human | 1 | name , trait |
| 152029789 | CV1653478 | single nucleotide variant | NM_001256545.2(MEGF10):c.66A>G (p.Thr22=) | MEGF10-related myopathy [RCV002085923] | likely benign | 5 | 127331374 | 127331374 | Human | 1 | name , trait |
| 156074500 | CV2086427 | single nucleotide variant | NM_001256545.2(MEGF10):c.99G>T (p.Val33=) | MEGF10-related myopathy [RCV002847179] | likely benign | 5 | 127331407 | 127331407 | Human | 1 | name , trait |
| 156374910 | CV2190920 | single nucleotide variant | NM_001256545.2(MEGF10):c.3G>T (p.Met1Ile) | MEGF10-related myopathy [RCV003050019] | uncertain significance | 5 | 127331311 | 127331311 | Human | 1 | name , trait |
| 402493130 | CV2996007 | deletion | NM_001256545.2(MEGF10):c.319+13_319+14del | MEGF10-related myopathy [RCV003644055] | likely benign | 5 | 127340642 | 127340643 | Human | 1 | name , trait |
| 402495982 | CV3022270 | deletion | NM_001256545.2(MEGF10):c.219-18_219-14del | MEGF10-related myopathy [RCV003644373] | likely benign | 5 | 127340512 | 127340516 | Human | 1 | name , trait |
| 407502466 | CV3449747 | single nucleotide variant | NM_001256545.2(MEGF10):c.4G>A (p.Val2Ile) | Inborn genetic diseases [RCV004645154] | uncertain significance | 5 | 127331312 | 127331312 | Human | 1 | name |
| 597850021 | CV3803185 | single nucleotide variant | NM_001256545.2(MEGF10):c.96T>C (p.Asn32=) | MEGF10-related myopathy [RCV005145302] | likely benign | 5 | 127331404 | 127331404 | Human | 1 | name , trait |
| 15169428 | CV749178 | single nucleotide variant | NM_001256545.2(MEGF10):c.81T>C (p.Asn27=) | MEGF10-related myopathy [RCV001463109] | likely benign | 5 | 127331389 | 127331389 | Human | 1 | name , trait |
| 152073989 | CV1570325 | single nucleotide variant | NM_001256545.2(MEGF10):c.183T>C (p.Thr61=) | MEGF10-related myopathy [RCV002210349] | likely benign | 5 | 127339186 | 127339186 | Human | 1 | name , trait |
| 152159410 | CV1588047 | microsatellite | NM_001256545.2(MEGF10):c.2492-10_2492-8del | MEGF10-related myopathy [RCV002180662] | likely benign | 5 | 127445443 | 127445445 | Human | | name , trait |
| 152054710 | CV1633096 | single nucleotide variant | NM_001256545.2(MEGF10):c.171C>T (p.Tyr57=) | MEGF10-related myopathy [RCV002127636] | likely benign | 5 | 127339174 | 127339174 | Human | 1 | name , trait |
| 155999374 | CV2057333 | single nucleotide variant | NM_001256545.2(MEGF10):c.165T>A (p.Ile55=) | MEGF10-related myopathy [RCV002819574] | likely benign | 5 | 127339168 | 127339168 | Human | 1 | name , trait |
| 156390827 | CV2118619 | single nucleotide variant | NM_001256545.2(MEGF10):c.147A>G (p.Pro49=) | MEGF10-related myopathy [RCV002943888] | likely benign | 5 | 127339150 | 127339150 | Human | 1 | name , trait |
| 11552298 | CV251617 | single nucleotide variant | NM_001256545.2(MEGF10):c.156T>C (p.Phe52=) | not specified [RCV000254191] | likely benign | 5 | 127339159 | 127339159 | Human | | name |
| 11549700 | CV251618 | single nucleotide variant | NM_001256545.2(MEGF10):c.174G>A (p.Thr58=) | MEGF10-related myopathy [RCV000327167]|not specified [RCV000250753] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 127339177 | 127339177 | Human | 1 | name |
| 401897206 | CV2789902 | single nucleotide variant | NM_001256545.2(MEGF10):c.19T>C (p.Ser7Pro) | Inborn genetic diseases [RCV003374824] | uncertain significance | 5 | 127331327 | 127331327 | Human | 1 | name |
| 401917828 | CV2827966 | single nucleotide variant | NM_001256545.2(MEGF10):c.249G>A (p.Gly83=) | MEGF10-related myopathy [RCV003778430]|not provided [RCV003429748] | likely benign | 5 | 127340560 | 127340560 | Human | 1 | name |
| 402478001 | CV3170207 | single nucleotide variant | NM_001256545.2(MEGF10):c.129T>C (p.Thr43=) | MEGF10-related myopathy [RCV003875595] | likely benign | 5 | 127339132 | 127339132 | Human | 1 | name , trait |
| 405229151 | CV3180382 | single nucleotide variant | NM_001256545.2(MEGF10):c.168C>T (p.Tyr56=) | MEGF10-related myopathy [RCV003864802] | likely benign | 5 | 127339171 | 127339171 | Human | 1 | name , trait |
| 597956410 | CV3754630 | single nucleotide variant | NM_001256545.2(MEGF10):c.162A>G (p.Gln54=) | MEGF10-related myopathy [RCV005080480] | likely benign | 5 | 127339165 | 127339165 | Human | 1 | name , trait |
| 597951913 | CV3815661 | single nucleotide variant | NM_001256545.2(MEGF10):c.144C>T (p.Tyr48=) | MEGF10-related myopathy [RCV005161414] | likely benign | 5 | 127339147 | 127339147 | Human | 1 | name , trait |
| 597922408 | CV3843245 | single nucleotide variant | NM_001256545.2(MEGF10):c.24C>A (p.Cys8Ter) | MEGF10-related myopathy [RCV005184537] | pathogenic | 5 | 127331332 | 127331332 | Human | 1 | name , trait |
| 13526811 | CV501255 | single nucleotide variant | NM_001256545.2(MEGF10):c.120C>T (p.Tyr40=) | MEGF10-related myopathy [RCV000877569]|not specified [RCV000604641] | likely benign | 5 | 127339123 | 127339123 | Human | 1 | name |
| 15134735 | CV691665 | single nucleotide variant | NM_001256545.2(MEGF10):c.210G>A (p.Thr70=) | MEGF10-related disorder [RCV003938370]|MEGF10-related myopathy [RCV001471481] | likely benign | 5 | 127339213 | 127339213 | Human | 1 | name , trait , alternate_id |
| 15175510 | CV709604 | single nucleotide variant | NM_001256545.2(MEGF10):c.174G>T (p.Thr58=) | MEGF10-related disorder [RCV003962901]|MEGF10-related myopathy [RCV000972967]|not provided [RCV001547366] | likely benign | 5 | 127339177 | 127339177 | Human | 1 | name , trait , alternate_id |
| 126915874 | CV1043209 | single nucleotide variant | NM_001256545.2(MEGF10):c.918G>A (p.Arg306=) | MEGF10-related disorder [RCV003908552]|MEGF10-related myopathy [RCV001371174] | likely benign|uncertain significance | 5 | 127410389 | 127410389 | Human | 1 | name , trait , alternate_id |
| 127244758 | CV1072127 | single nucleotide variant | NM_001256545.2(MEGF10):c.480C>T (p.Cys160=) | MEGF10-related myopathy [RCV001398609] | likely benign | 5 | 127396599 | 127396599 | Human | 1 | name , trait |
| 127240346 | CV1093723 | single nucleotide variant | NM_001256545.2(MEGF10):c.414C>T (p.Ala138=) | MEGF10-related myopathy [RCV001434211] | likely benign | 5 | 127396533 | 127396533 | Human | 1 | name , trait |
| 127299539 | CV1115251 | single nucleotide variant | NM_001256545.2(MEGF10):c.492C>T (p.Thr164=) | MEGF10-related myopathy [RCV001460848] | likely benign | 5 | 127396611 | 127396611 | Human | 1 | name , trait |
| 127301023 | CV1115252 | single nucleotide variant | NM_001256545.2(MEGF10):c.567C>T (p.Asn189=) | MEGF10-related myopathy [RCV001461266] | likely benign | 5 | 127396686 | 127396686 | Human | 1 | name , trait |
| 150437905 | CV1201329 | deletion | NM_001256545.2(MEGF10):c.320-134_320-130del | not provided [RCV001583141] | likely benign | 5 | 127369773 | 127369777 | Human | | name |
| 151821160 | CV1338430 | single nucleotide variant | NM_001256545.2(MEGF10):c.534C>T (p.Cys178=) | MEGF10-related myopathy [RCV001900898] | uncertain significance | 5 | 127396653 | 127396653 | Human | 1 | name , trait |
| 151848184 | CV1352991 | single nucleotide variant | NM_001256545.2(MEGF10):c.88G>C (p.Asp30His) | MEGF10-related myopathy [RCV001922411] | uncertain significance | 5 | 127331396 | 127331396 | Human | 1 | name , trait |
| 152115942 | CV1553992 | single nucleotide variant | NM_001256545.2(MEGF10):c.891T>C (p.His297=) | MEGF10-related myopathy [RCV002117189] | likely benign | 5 | 127402656 | 127402656 | Human | 1 | name , trait |
| 152093667 | CV1561646 | single nucleotide variant | NM_001256545.2(MEGF10):c.912G>A (p.Gly304=) | MEGF10-related myopathy [RCV002194625] | likely benign | 5 | 127402677 | 127402677 | Human | 1 | name , trait |
| 152071111 | CV1638713 | single nucleotide variant | NM_001256545.2(MEGF10):c.369C>T (p.Thr123=) | MEGF10-related myopathy [RCV002075115] | likely benign | 5 | 127369959 | 127369959 | Human | 1 | name , trait |
| 156284911 | CV2061660 | single nucleotide variant | NM_001256545.2(MEGF10):c.699G>A (p.Gln233=) | MEGF10-related myopathy [RCV002832971] | likely benign | 5 | 127398715 | 127398715 | Human | 1 | name , trait |
| 156264567 | CV2128991 | single nucleotide variant | NM_001256545.2(MEGF10):c.513G>A (p.Ala171=) | MEGF10-related myopathy [RCV002934005] | likely benign|uncertain significance | 5 | 127396632 | 127396632 | Human | 1 | name , trait |
| 156244311 | CV2173589 | single nucleotide variant | NM_001256545.2(MEGF10):c.68C>A (p.Ala23Glu) | MEGF10-related myopathy [RCV003043558] | uncertain significance | 5 | 127331376 | 127331376 | Human | 1 | name , trait |
| 11544907 | CV251621 | single nucleotide variant | NM_001256545.2(MEGF10):c.588G>A (p.Gln196=) | MEGF10-related myopathy [RCV000281307]|not specified [RCV000244420] | benign|likely benign | 5 | 127396707 | 127396707 | Human | 1 | name |
| 11548669 | CV251622 | single nucleotide variant | NM_001256545.2(MEGF10):c.609C>T (p.Cys203=) | MEGF10-related myopathy [RCV000320027]|not provided [RCV002262904]|not specified [RCV000249391] | benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127396728 | 127396728 | Human | 1 | name |
| 11548322 | CV251625 | single nucleotide variant | NM_001256545.2(MEGF10):c.984C>T (p.Asn328=) | MEGF10-related myopathy [RCV000528430]|not provided [RCV004705120]|not specified [RCV000248940] | benign|likely benign | 5 | 127410455 | 127410455 | Human | 1 | name |
| 405026415 | CV2868954 | single nucleotide variant | NM_001256545.2(MEGF10):c.651C>T (p.Thr217=) | MEGF10-related myopathy [RCV003529027] | likely benign | 5 | 127396770 | 127396770 | Human | 1 | name , trait |
| 405016267 | CV2921650 | single nucleotide variant | NM_001256545.2(MEGF10):c.621G>A (p.Thr207=) | MEGF10-related myopathy [RCV003527776] | likely benign | 5 | 127396740 | 127396740 | Human | 1 | name , trait |
| 11590656 | CV300732 | single nucleotide variant | NM_001256545.2(MEGF10):c.489C>T (p.Ile163=) | MEGF10-related disorder [RCV003922542]|MEGF10-related myopathy [RCV000321353]|not specified [RCV000419238] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127396608 | 127396608 | Human | 1 | name , trait , alternate_id |
| 402486917 | CV3071610 | single nucleotide variant | NM_001256545.2(MEGF10):c.975G>A (p.Gln325=) | MEGF10-related myopathy [RCV003643415] | likely benign | 5 | 127410446 | 127410446 | Human | 1 | name , trait |
| 402487272 | CV3080580 | single nucleotide variant | NM_001256545.2(MEGF10):c.888T>C (p.Cys296=) | MEGF10-related myopathy [RCV003643457] | likely benign | 5 | 127402653 | 127402653 | Human | 1 | name , trait |
| 405198894 | CV3164518 | single nucleotide variant | NM_001256545.2(MEGF10):c.475C>T (p.Leu159=) | MEGF10-related disorder [RCV003893526]|MEGF10-related myopathy [RCV003860575] | likely benign | 5 | 127396594 | 127396594 | Human | 1 | name , trait , alternate_id |
| 402467931 | CV3174212 | single nucleotide variant | NM_001256545.2(MEGF10):c.519C>T (p.Phe173=) | MEGF10-related myopathy [RCV003873495] | likely benign | 5 | 127396638 | 127396638 | Human | 1 | name , trait |
| 402487069 | CV3181874 | single nucleotide variant | NM_001256545.2(MEGF10):c.651C>G (p.Thr217=) | MEGF10-related myopathy [RCV003876543] | likely benign | 5 | 127396770 | 127396770 | Human | 1 | name , trait |
| 405285136 | CV3202495 | single nucleotide variant | NM_001256545.2(MEGF10):c.606C>T (p.Thr202=) | MEGF10-related disorder [RCV003909757] | likely benign | 5 | 127396725 | 127396725 | Human | | name , trait , alternate_id |
| 12847254 | CV368209 | single nucleotide variant | NM_001256545.2(MEGF10):c.303C>T (p.Ser101=) | MEGF10-related myopathy [RCV000543585]|not provided [RCV001704368] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 127340614 | 127340614 | Human | 1 | name |
| 12838177 | CV368210 | single nucleotide variant | NM_001256545.2(MEGF10):c.807C>T (p.Pro269=) | MEGF10-related disorder [RCV003942387]|MEGF10-related myopathy [RCV000649871]|not provided [RCV001703862] | likely benign | 5 | 127402572 | 127402572 | Human | 1 | name , trait , alternate_id |
| 12836669 | CV369509 | single nucleotide variant | NM_001256545.2(MEGF10):c.59T>C (p.Ile20Thr) | Inborn genetic diseases [RCV005372305]|MEGF10-related myopathy [RCV000699532]|not specified [RCV000423815] | likely benign|uncertain significance | 5 | 127331367 | 127331367 | Human | 2 | name |
| 12837322 | CV369514 | single nucleotide variant | NM_001256545.2(MEGF10):c.522G>A (p.Arg174=) | MEGF10-related myopathy [RCV000877324]|not specified [RCV000424962] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 127396641 | 127396641 | Human | 1 | name |
| 597836609 | CV3739869 | single nucleotide variant | NM_001256545.2(MEGF10):c.44T>A (p.Leu15Ter) | MEGF10-related myopathy [RCV005064089] | pathogenic | 5 | 127331352 | 127331352 | Human | 1 | name , trait |
| 597942352 | CV3815629 | single nucleotide variant | NM_001256545.2(MEGF10):c.879A>C (p.Thr293=) | MEGF10-related myopathy [RCV005159318] | likely benign | 5 | 127402644 | 127402644 | Human | 1 | name , trait |
| 597832895 | CV3831384 | single nucleotide variant | NM_001256545.2(MEGF10):c.570C>T (p.Asp190=) | MEGF10-related myopathy [RCV005170587] | likely benign | 5 | 127396689 | 127396689 | Human | 1 | name , trait |
| 597896607 | CV3854082 | single nucleotide variant | NM_001256545.2(MEGF10):c.486C>G (p.Pro162=) | MEGF10-related myopathy [RCV005201366] | likely benign | 5 | 127396605 | 127396605 | Human | 1 | name , trait |
| 12893710 | CV406611 | duplication | NM_001256545.2(MEGF10):c.217dup (p.Arg73fs) | not provided [RCV000479936] | likely pathogenic | 5 | 127339219 | 127339220 | Human | | name |
| 13488248 | CV454986 | single nucleotide variant | NM_001256545.2(MEGF10):c.750T>C (p.Thr250=) | MEGF10-related myopathy [RCV000554703] | likely benign | 5 | 127398766 | 127398766 | Human | 1 | name , trait |
| 13526440 | CV500631 | single nucleotide variant | NM_001256545.2(MEGF10):c.786A>G (p.Thr262=) | MEGF10-related myopathy [RCV001868046]|not specified [RCV000604174] | likely benign|uncertain significance | 5 | 127402551 | 127402551 | Human | 1 | name |
| 13540140 | CV500944 | single nucleotide variant | NM_001256545.2(MEGF10):c.930G>A (p.Glu310=) | MEGF10-related myopathy [RCV002064218]|not specified [RCV000614288] | likely benign | 5 | 127410401 | 127410401 | Human | 1 | name |
| 13622502 | CV520451 | single nucleotide variant | NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr) | MEGF10-related myopathy [RCV000649865]|not provided [RCV001556377] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 127331358 | 127331358 | Human | 1 | name |
| 13622508 | CV520452 | single nucleotide variant | NM_001256545.2(MEGF10):c.864G>A (p.Thr288=) | MEGF10-related myopathy [RCV000649872] | likely benign | 5 | 127402629 | 127402629 | Human | 1 | name , trait |
| 14711463 | CV655628 | single nucleotide variant | NM_001256545.2(MEGF10):c.789G>T (p.Val263=) | not provided [RCV000828051] | likely benign | 5 | 127402554 | 127402554 | Human | | name |
| 26914506 | CV829901 | single nucleotide variant | NM_001256545.2(MEGF10):c.520C>A (p.Arg174=) | MEGF10-related myopathy [RCV001040705] | likely benign|uncertain significance | 5 | 127396639 | 127396639 | Human | 1 | name , trait |
| 28898800 | CV892752 | single nucleotide variant | NM_001256545.2(MEGF10):c.417C>T (p.Cys139=) | MEGF10-related myopathy [RCV001155579] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 127396536 | 127396536 | Human | 1 | name , trait |
| 28888564 | CV892756 | single nucleotide variant | NM_001256545.2(MEGF10):c.789G>A (p.Val263=) | MEGF10-related myopathy [RCV001151808] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 127402554 | 127402554 | Human | 1 | name , trait |
| 28888569 | CV892757 | single nucleotide variant | NM_001256545.2(MEGF10):c.951C>T (p.Gly317=) | MEGF10-related myopathy [RCV001151809] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 127410422 | 127410422 | Human | 1 | name , trait |
| 28888573 | CV892758 | single nucleotide variant | NM_001256545.2(MEGF10):c.954T>C (p.Val318=) | MEGF10-related myopathy [RCV001151810] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 127410425 | 127410425 | Human | 1 | name , trait |
| 127238966 | CV1060202 | single nucleotide variant | NM_001256545.2(MEGF10):c.240T>G (p.Tyr80Ter) | MEGF10-related myopathy [RCV001383136] | pathogenic | 5 | 127340551 | 127340551 | Human | 1 | name , trait |
| 127237197 | CV1072129 | single nucleotide variant | NM_001256545.2(MEGF10):c.2478G>A (p.Ala826=) | MEGF10-related myopathy [RCV001392252] | likely benign | 5 | 127443113 | 127443113 | Human | 1 | name , trait |
| 127246535 | CV1072131 | single nucleotide variant | NM_001256545.2(MEGF10):c.2547C>G (p.Leu849=) | MEGF10-related myopathy [RCV001416757] | likely benign | 5 | 127445512 | 127445512 | Human | 1 | name , trait |
| 127276301 | CV1093724 | single nucleotide variant | NM_001256545.2(MEGF10):c.1134T>C (p.Cys378=) | MEGF10-related myopathy [RCV001443753] | likely benign | 5 | 127417641 | 127417641 | Human | 1 | name , trait |
| 127265749 | CV1093725 | single nucleotide variant | NM_001256545.2(MEGF10):c.1404C>T (p.Asp468=) | MEGF10-related myopathy [RCV001429184] | likely benign | 5 | 127419218 | 127419218 | Human | 1 | name , trait |
| 127268729 | CV1093726 | single nucleotide variant | NM_001256545.2(MEGF10):c.1548T>C (p.Cys516=) | MEGF10-related myopathy [RCV001430065] | likely benign | 5 | 127420165 | 127420165 | Human | 1 | name , trait |
| 127232221 | CV1093727 | single nucleotide variant | NM_001256545.2(MEGF10):c.1905C>T (p.Ser635=) | MEGF10-related myopathy [RCV001421221] | likely benign | 5 | 127434751 | 127434751 | Human | 1 | name , trait |
| 127258459 | CV1093728 | single nucleotide variant | NM_001256545.2(MEGF10):c.1926C>T (p.Thr642=) | MEGF10-related myopathy [RCV001438125] | likely benign | 5 | 127434772 | 127434772 | Human | 1 | name , trait |
| 127239836 | CV1093729 | single nucleotide variant | NM_001256545.2(MEGF10):c.2796G>A (p.Thr932=) | MEGF10-related myopathy [RCV001434069] | likely benign | 5 | 127447624 | 127447624 | Human | 1 | name , trait |
| 127276884 | CV1093730 | single nucleotide variant | NM_001256545.2(MEGF10):c.2871A>G (p.Gln957=) | MEGF10-related myopathy [RCV001444081] | likely benign | 5 | 127449113 | 127449113 | Human | 1 | name , trait |
| 127294114 | CV1115253 | single nucleotide variant | NM_001256545.2(MEGF10):c.1914C>T (p.Cys638=) | MEGF10-related myopathy [RCV001452170] | likely benign | 5 | 127434760 | 127434760 | Human | 1 | name , trait |
| 127294229 | CV1115254 | single nucleotide variant | NM_001256545.2(MEGF10):c.2106A>G (p.Pro702=) | MEGF10-related myopathy [RCV001476747] | likely benign | 5 | 127438440 | 127438440 | Human | 1 | name , trait |
| 127318630 | CV1115255 | single nucleotide variant | NM_001256545.2(MEGF10):c.2265T>C (p.Cys755=) | MEGF10-related myopathy [RCV001466284] | likely benign | 5 | 127440770 | 127440770 | Human | 1 | name , trait |
| 127304820 | CV1136204 | single nucleotide variant | NM_001256545.2(MEGF10):c.1893C>T (p.Cys631=) | MEGF10-related myopathy [RCV001499750] | likely benign | 5 | 127434739 | 127434739 | Human | 1 | name , trait |
| 127303146 | CV1136205 | single nucleotide variant | NM_001256545.2(MEGF10):c.2799C>T (p.Leu933=) | MEGF10-related myopathy [RCV001499290]|not provided [RCV004707631] | likely benign | 5 | 127447627 | 127447627 | Human | 1 | name |
| 150334119 | CV1171322 | deletion | NM_001256545.2(MEGF10):c.1975+96_1975+118del | not provided [RCV001539798] | benign | 5 | 127434913 | 127434935 | Human | | name |
| 151808389 | CV1337225 | single nucleotide variant | NM_001256545.2(MEGF10):c.229C>T (p.Arg77Trp) | MEGF10-related myopathy [RCV002028732] | uncertain significance | 5 | 127340540 | 127340540 | Human | 1 | name , trait |
| 151862429 | CV1365081 | single nucleotide variant | NM_001256545.2(MEGF10):c.1536G>T (p.Gly512=) | MEGF10-related myopathy [RCV002017919] | likely benign|uncertain significance | 5 | 127420153 | 127420153 | Human | 1 | name , trait |
| 151832207 | CV1396107 | single nucleotide variant | NM_001256545.2(MEGF10):c.1011C>T (p.Gly337=) | MEGF10-related myopathy [RCV001901919] | likely benign|uncertain significance | 5 | 127410482 | 127410482 | Human | 1 | name , trait |
| 151758007 | CV1438825 | deletion | NM_001256545.2(MEGF10):c.815del (p.Arg272fs) | MEGF10-related myopathy [RCV002007533] | pathogenic | 5 | 127402580 | 127402580 | Human | 1 | name , trait |
| 151839836 | CV1487682 | single nucleotide variant | NM_001256545.2(MEGF10):c.1710C>T (p.Ser570=) | MEGF10-related myopathy [RCV001935971] | likely benign|uncertain significance | 5 | 127433379 | 127433379 | Human | 1 | name , trait |
| 152127288 | CV1533978 | single nucleotide variant | NM_001256545.2(MEGF10):c.2397C>A (p.Arg799=) | MEGF10-related myopathy [RCV002136478] | likely benign | 5 | 127443032 | 127443032 | Human | 1 | name , trait |
| 152068458 | CV1535113 | single nucleotide variant | NM_001256545.2(MEGF10):c.2079T>C (p.Gly693=) | MEGF10-related disorder [RCV004757510]|MEGF10-related myopathy [RCV002091255] | likely benign | 5 | 127435464 | 127435464 | Human | 1 | name , trait , alternate_id |
| 152162904 | CV1537475 | single nucleotide variant | NM_001256545.2(MEGF10):c.2694T>C (p.Ala898=) | MEGF10-related myopathy [RCV002159962] | likely benign | 5 | 127445659 | 127445659 | Human | 1 | name , trait |
| 152089240 | CV1541533 | single nucleotide variant | NM_001256545.2(MEGF10):c.1266C>T (p.Asp422=) | MEGF10-related myopathy [RCV002171607] | likely benign | 5 | 127417773 | 127417773 | Human | 1 | name , trait |
| 152152160 | CV1545722 | single nucleotide variant | NM_001256545.2(MEGF10):c.1653C>T (p.His551=) | MEGF10-related myopathy [RCV002179621] | likely benign | 5 | 127422732 | 127422732 | Human | 1 | name , trait |
| 152063127 | CV1554259 | single nucleotide variant | NM_001256545.2(MEGF10):c.2457C>T (p.Cys819=) | MEGF10-related myopathy [RCV002190771] | likely benign | 5 | 127443092 | 127443092 | Human | 1 | name , trait |
| 152084985 | CV1554989 | single nucleotide variant | NM_001256545.2(MEGF10):c.2622A>G (p.Ala874=) | MEGF10-related myopathy [RCV002211922] | likely benign | 5 | 127445587 | 127445587 | Human | 1 | name , trait |
| 152161730 | CV1555496 | single nucleotide variant | NM_001256545.2(MEGF10):c.2391C>T (p.Gly797=) | MEGF10-related myopathy [RCV002103926] | likely benign | 5 | 127443026 | 127443026 | Human | 1 | name , trait |
| 152117798 | CV1556373 | single nucleotide variant | NM_001256545.2(MEGF10):c.2019T>C (p.Cys673=) | MEGF10-related myopathy [RCV002216371] | likely benign | 5 | 127435404 | 127435404 | Human | 1 | name , trait |
| 152121527 | CV1562515 | single nucleotide variant | NM_001256545.2(MEGF10):c.2751T>C (p.Gly917=) | MEGF10-related myopathy [RCV002098220] | likely benign | 5 | 127447579 | 127447579 | Human | 1 | name , trait |
| 152124124 | CV1587367 | single nucleotide variant | NM_001256545.2(MEGF10):c.1698C>A (p.Val566=) | MEGF10-related myopathy [RCV002136096] | likely benign | 5 | 127433367 | 127433367 | Human | 1 | name , trait |
| 152052573 | CV1607263 | single nucleotide variant | NM_001256545.2(MEGF10):c.1647C>T (p.Gly549=) | MEGF10-related myopathy [RCV002109162] | likely benign | 5 | 127422726 | 127422726 | Human | 1 | name , trait |
| 152076446 | CV1616955 | single nucleotide variant | NM_001256545.2(MEGF10):c.2151C>T (p.Asn717=) | MEGF10-related myopathy [RCV002210659] | likely benign | 5 | 127438485 | 127438485 | Human | 1 | name , trait |
| 152114487 | CV1659638 | single nucleotide variant | NM_001256545.2(MEGF10):c.2301C>T (p.Cys767=) | MEGF10-related myopathy [RCV002080703] | likely benign | 5 | 127440806 | 127440806 | Human | 1 | name , trait |
| 155709904 | CV1775771 | single nucleotide variant | NM_001256545.2(MEGF10):c.195C>G (p.Asn65Lys) | MEGF10-related myopathy [RCV002296152] | uncertain significance | 5 | 127339198 | 127339198 | Human | 1 | name , trait |
| 156270285 | CV1870676 | single nucleotide variant | NM_001256545.2(MEGF10):c.2703C>T (p.Val901=) | MEGF10-related myopathy [RCV003060690] | likely benign | 5 | 127445668 | 127445668 | Human | 1 | name , trait |
| 156052063 | CV1878655 | single nucleotide variant | NM_001256545.2(MEGF10):c.2028C>G (p.Thr676=) | MEGF10-related myopathy [RCV003053035] | likely benign | 5 | 127435413 | 127435413 | Human | 1 | name , trait |
| 156329755 | CV1884258 | single nucleotide variant | NM_001256545.2(MEGF10):c.149A>G (p.His50Arg) | MEGF10-related myopathy [RCV003089719] | uncertain significance | 5 | 127339152 | 127339152 | Human | 1 | name , trait |
| 156285918 | CV1900538 | single nucleotide variant | NM_001256545.2(MEGF10):c.241C>T (p.Arg81Ter) | MEGF10-related myopathy [RCV002598556] | pathogenic | 5 | 127340552 | 127340552 | Human | 1 | name , trait |
| 156365548 | CV1906192 | single nucleotide variant | NM_001256545.2(MEGF10):c.157G>T (p.Asp53Tyr) | MEGF10-related myopathy [RCV003092027] | uncertain significance | 5 | 127339160 | 127339160 | Human | 1 | name , trait |
| 156165927 | CV1929973 | single nucleotide variant | NM_001256545.2(MEGF10):c.2979C>T (p.Leu993=) | MEGF10-related myopathy [RCV002624549] | uncertain significance | 5 | 127449221 | 127449221 | Human | 1 | name , trait |
| 155912890 | CV1935382 | single nucleotide variant | NM_001256545.2(MEGF10):c.268C>T (p.Arg90Cys) | MEGF10-related myopathy [RCV002510715] | uncertain significance | 5 | 127340579 | 127340579 | Human | 1 | name , trait |
| 156440442 | CV1943567 | single nucleotide variant | NM_001256545.2(MEGF10):c.2733C>A (p.Thr911=) | MEGF10-related myopathy [RCV003110476] | likely benign | 5 | 127447561 | 127447561 | Human | 1 | name , trait |
| 156150458 | CV1967424 | single nucleotide variant | NM_001256545.2(MEGF10):c.1845C>T (p.Cys615=) | MEGF10-related myopathy [RCV002594128] | likely benign | 5 | 127434691 | 127434691 | Human | 1 | name , trait |
| 156417215 | CV1970261 | single nucleotide variant | NM_001256545.2(MEGF10):c.1644T>C (p.Asp548=) | MEGF10-related myopathy [RCV002590074] | likely benign | 5 | 127422723 | 127422723 | Human | 1 | name , trait |
| 156213169 | CV2018970 | single nucleotide variant | NM_001256545.2(MEGF10):c.2460C>T (p.Ser820=) | MEGF10-related myopathy [RCV002700705] | likely benign | 5 | 127443095 | 127443095 | Human | 1 | name , trait |
| 155995986 | CV2034951 | single nucleotide variant | NM_001256545.2(MEGF10):c.197G>T (p.Trp66Leu) | MEGF10-related myopathy [RCV002755962] | uncertain significance | 5 | 127339200 | 127339200 | Human | 1 | name , trait |
| 156174807 | CV2071946 | single nucleotide variant | NM_001256545.2(MEGF10):c.185A>G (p.Asp62Gly) | MEGF10-related myopathy [RCV002851646] | uncertain significance | 5 | 127339188 | 127339188 | Human | 1 | name , trait |
| 155912248 | CV2081251 | single nucleotide variant | NM_001256545.2(MEGF10):c.1476C>T (p.Gly492=) | MEGF10-related myopathy [RCV002858579] | likely benign | 5 | 127420093 | 127420093 | Human | 1 | name , trait |
| 155913452 | CV2081549 | single nucleotide variant | NM_001256545.2(MEGF10):c.1857T>C (p.Phe619=) | MEGF10-related myopathy [RCV002858657] | likely benign | 5 | 127434703 | 127434703 | Human | 1 | name , trait |
| 156236592 | CV2090224 | single nucleotide variant | NM_001256545.2(MEGF10):c.2760T>G (p.Ala920=) | MEGF10-related myopathy [RCV002894760] | likely benign | 5 | 127447588 | 127447588 | Human | 1 | name , trait |
| 156332924 | CV2091090 | single nucleotide variant | NM_001256545.2(MEGF10):c.268C>A (p.Arg90Ser) | MEGF10-related myopathy [RCV002900038] | uncertain significance | 5 | 127340579 | 127340579 | Human | 1 | name , trait |
| 156047545 | CV2091284 | single nucleotide variant | NM_001256545.2(MEGF10):c.2187G>A (p.Gly729=) | MEGF10-related myopathy [RCV002886047] | uncertain significance | 5 | 127438521 | 127438521 | Human | 1 | name , trait |
| 156035458 | CV2097704 | single nucleotide variant | NM_001256545.2(MEGF10):c.2709T>C (p.Asn903=) | MEGF10-related myopathy [RCV002885585] | likely benign | 5 | 127445674 | 127445674 | Human | 1 | name , trait |
| 156008927 | CV2099924 | single nucleotide variant | NM_001256545.2(MEGF10):c.1491A>G (p.Leu497=) | MEGF10-related myopathy [RCV002908997] | likely benign | 5 | 127420108 | 127420108 | Human | 1 | name , trait |
| 156152475 | CV2101418 | single nucleotide variant | NM_001256545.2(MEGF10):c.173C>T (p.Thr58Met) | MEGF10-related myopathy [RCV002890699] | uncertain significance | 5 | 127339176 | 127339176 | Human | 1 | name , trait |
| 156247913 | CV2106378 | single nucleotide variant | NM_001256545.2(MEGF10):c.2112A>G (p.Pro704=) | MEGF10-related myopathy [RCV002933439] | likely benign | 5 | 127438446 | 127438446 | Human | 1 | name , trait |
| 156248806 | CV2106440 | single nucleotide variant | NM_001256545.2(MEGF10):c.2181C>T (p.Tyr727=) | MEGF10-related myopathy [RCV002933470] | likely benign | 5 | 127438515 | 127438515 | Human | 1 | name , trait |
| 156027001 | CV2131376 | single nucleotide variant | NM_001256545.2(MEGF10):c.1167G>A (p.Pro389=) | MEGF10-related myopathy [RCV002976434] | likely benign | 5 | 127417674 | 127417674 | Human | 1 | name , trait |
| 155978085 | CV2132552 | single nucleotide variant | NM_001256545.2(MEGF10):c.1509C>T (p.Asn503=) | MEGF10-related myopathy [RCV002995957] | likely benign | 5 | 127420126 | 127420126 | Human | 1 | name , trait |
| 156215322 | CV2135911 | single nucleotide variant | NM_001256545.2(MEGF10):c.1281G>A (p.Lys427=) | MEGF10-related myopathy [RCV003007156] | likely benign | 5 | 127417788 | 127417788 | Human | 1 | name , trait |
| 155912899 | CV2153450 | single nucleotide variant | NM_001256545.2(MEGF10):c.2928C>T (p.Cys976=) | MEGF10-related myopathy [RCV003012384] | likely benign | 5 | 127449170 | 127449170 | Human | 1 | name , trait |
| 329400846 | CV2449759 | single nucleotide variant | NM_001256545.2(MEGF10):c.273G>C (p.Lys91Asn) | Inborn genetic diseases [RCV003197872] | uncertain significance | 5 | 127340584 | 127340584 | Human | 1 | name |
| 11546336 | CV251627 | single nucleotide variant | NM_001256545.2(MEGF10):c.1114C>T (p.Leu372=) | MEGF10-related myopathy [RCV000305410]|not specified [RCV000246324] | benign | 5 | 127410585 | 127410585 | Human | 1 | name |
| 11546257 | CV251628 | single nucleotide variant | NM_001256545.2(MEGF10):c.1626C>T (p.Cys542=) | MEGF10-related myopathy [RCV000556931]|not provided [RCV001310866]|not specified [RCV000246222] | likely benign|conflicting interpretations of pathogenicity | 5 | 127422705 | 127422705 | Human | 1 | name |
| 11543385 | CV251629 | single nucleotide variant | NM_001256545.2(MEGF10):c.1785T>C (p.Pro595=) | MEGF10-related myopathy [RCV000386947]|not specified [RCV000242386] | benign|likely benign | 5 | 127433454 | 127433454 | Human | 1 | name |
| 11545913 | CV251630 | single nucleotide variant | NM_001256545.2(MEGF10):c.1839G>A (p.Arg613=) | MEGF10-related myopathy [RCV000797802]|not provided [RCV001547596]|not specified [RCV000245778] | likely benign|uncertain significance | 5 | 127433508 | 127433508 | Human | 1 | name |
| 11549348 | CV251631 | single nucleotide variant | NM_001256545.2(MEGF10):c.2034C>T (p.Asn678=) | MEGF10-related myopathy [RCV000558316]|not provided [RCV004705117]|not specified [RCV000250302] | benign|likely benign | 5 | 127435419 | 127435419 | Human | 1 | name |
| 11543305 | CV251632 | single nucleotide variant | NM_001256545.2(MEGF10):c.2076C>T (p.Pro692=) | MEGF10-related myopathy [RCV000534483]|not provided [RCV004706741]|not specified [RCV000242283] | benign|likely benign | 5 | 127435461 | 127435461 | Human | 1 | name |
| 11546763 | CV251633 | single nucleotide variant | NM_001256545.2(MEGF10):c.2145G>A (p.Thr715=) | MEGF10-related myopathy [RCV001479498]|not specified [RCV000246881] | likely benign | 5 | 127438479 | 127438479 | Human | 1 | name |
| 11546681 | CV251634 | single nucleotide variant | NM_001256545.2(MEGF10):c.2199C>T (p.Cys733=) | MEGF10-related myopathy [RCV000341969]|not provided [RCV004705119]|not specified [RCV000246780] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127438533 | 127438533 | Human | 1 | name |
| 11643727 | CV274901 | single nucleotide variant | NM_001256545.2(MEGF10):c.130G>A (p.Val44Met) | not provided [RCV000398255] | uncertain significance | 5 | 127339133 | 127339133 | Human | | name |
| 401915010 | CV2827967 | single nucleotide variant | NM_001256545.2(MEGF10):c.2847T>C (p.Thr949=) | not provided [RCV003428593] | likely benign | 5 | 127447675 | 127447675 | Human | | name |
| 405024446 | CV2859769 | single nucleotide variant | NM_001256545.2(MEGF10):c.2961C>A (p.Gly987=) | MEGF10-related myopathy [RCV003528852] | likely benign | 5 | 127449203 | 127449203 | Human | 1 | name , trait |
| 405017049 | CV2922284 | single nucleotide variant | NM_001256545.2(MEGF10):c.1545G>A (p.Thr515=) | MEGF10-related myopathy [RCV003527842] | likely benign | 5 | 127420162 | 127420162 | Human | 1 | name , trait |
| 11661731 | CV295124 | single nucleotide variant | NM_001256545.2(MEGF10):c.212G>A (p.Arg71Gln) | MEGF10-related myopathy [RCV000379496]|not provided [RCV001660732] | uncertain significance | 5 | 127339215 | 127339215 | Human | 1 | name |
| 11583698 | CV295126 | single nucleotide variant | NM_001256545.2(MEGF10):c.259A>G (p.Met87Val) | Inborn genetic diseases [RCV004021979]|MEGF10-related myopathy [RCV000268639]|not provided [RCV001564503] | uncertain significance | 5 | 127340570 | 127340570 | Human | 2 | name |
| 11597742 | CV295138 | single nucleotide variant | NM_001256545.2(MEGF10):c.1002C>T (p.His334=) | MEGF10-related myopathy [RCV000397639]|not specified [RCV000439607] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127410473 | 127410473 | Human | 1 | name |
| 11583261 | CV295141 | single nucleotide variant | NM_001256545.2(MEGF10):c.1215C>T (p.Tyr405=) | MEGF10-related myopathy [RCV000265274] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 127417722 | 127417722 | Human | 1 | name , trait |
| 11586615 | CV295154 | single nucleotide variant | NM_001256545.2(MEGF10):c.2175C>T (p.Ser725=) | MEGF10-related disorder [RCV003957813]|MEGF10-related myopathy [RCV000289043] | benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127438509 | 127438509 | Human | 1 | name , trait , alternate_id |
| 11598072 | CV296951 | single nucleotide variant | NM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=) | MEGF10-related myopathy [RCV000401273] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 127410551 | 127410551 | Human | 1 | name , trait |
| 11597721 | CV296964 | single nucleotide variant | NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=) | MEGF10-related myopathy [RCV000397380]|not provided [RCV000842087] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127443077 | 127443077 | Human | 1 | name |
| 11588181 | CV296965 | single nucleotide variant | NM_001256545.2(MEGF10):c.2463C>T (p.Pro821=) | MEGF10-related disorder [RCV003957814]|MEGF10-related myopathy [RCV000301126]|not provided [RCV001718751] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127443098 | 127443098 | Human | 1 | name , trait , alternate_id |
| 11590211 | CV300749 | single nucleotide variant | NM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=) | MEGF10-related myopathy [RCV000316834]|not provided [RCV001706570] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127422681 | 127422681 | Human | 1 | name |
| 11588316 | CV300755 | single nucleotide variant | NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=) | MEGF10-related disorder [RCV003972478]|MEGF10-related myopathy [RCV000302147]|not provided [RCV003422336] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127440794 | 127440794 | Human | 1 | name , trait , alternate_id |
| 402495628 | CV3017992 | single nucleotide variant | NM_001256545.2(MEGF10):c.1005G>A (p.Val335=) | MEGF10-related myopathy [RCV003644334] | likely benign | 5 | 127410476 | 127410476 | Human | 1 | name , trait |
| 405202514 | CV3035765 | single nucleotide variant | NM_001256545.2(MEGF10):c.1254G>T (p.Gly418=) | MEGF10-related myopathy [RCV003642382] | likely benign | 5 | 127417761 | 127417761 | Human | 1 | name , trait |
| 402480959 | CV3061706 | single nucleotide variant | NM_001256545.2(MEGF10):c.2823C>T (p.His941=) | MEGF10-related myopathy [RCV003642725] | likely benign | 5 | 127447651 | 127447651 | Human | 1 | name , trait |
| 402480272 | CV3067315 | single nucleotide variant | NM_001256545.2(MEGF10):c.1023T>C (p.Cys341=) | MEGF10-related myopathy [RCV003642643] | likely benign | 5 | 127410494 | 127410494 | Human | 1 | name , trait |
| 402487563 | CV3072645 | single nucleotide variant | NM_001256545.2(MEGF10):c.1824C>A (p.Gly608=) | MEGF10-related myopathy [RCV003643488] | likely benign | 5 | 127433493 | 127433493 | Human | 1 | name , trait |
| 402486997 | CV3080047 | single nucleotide variant | NM_001256545.2(MEGF10):c.2007T>C (p.Cys669=) | MEGF10-related myopathy [RCV003643424] | likely benign | 5 | 127435392 | 127435392 | Human | 1 | name , trait |
| 405136196 | CV3115654 | single nucleotide variant | NM_001256545.2(MEGF10):c.2988T>C (p.Phe996=) | MEGF10-related myopathy [RCV003816311] | likely benign | 5 | 127454573 | 127454573 | Human | 1 | name , trait |
| 405024489 | CV3139489 | single nucleotide variant | NM_001256545.2(MEGF10):c.1650C>T (p.Cys550=) | MEGF10-related myopathy [RCV003830132] | likely benign | 5 | 127422729 | 127422729 | Human | 1 | name , trait |
| 405186296 | CV3149053 | single nucleotide variant | NM_001256545.2(MEGF10):c.1941C>T (p.Cys647=) | MEGF10-related myopathy [RCV003842977] | likely benign | 5 | 127434787 | 127434787 | Human | 1 | name , trait |
| 405255428 | CV3176144 | single nucleotide variant | NM_001256545.2(MEGF10):c.1566G>C (p.Gly522=) | MEGF10-related myopathy [RCV003872228] | likely benign | 5 | 127420183 | 127420183 | Human | 1 | name , trait |
| 596947566 | CV3549125 | single nucleotide variant | NM_001256545.2(MEGF10):c.1503C>T (p.Cys501=) | not provided [RCV004811449] | likely benign | 5 | 127420120 | 127420120 | Human | | name |
| 597700763 | CV3560298 | single nucleotide variant | NM_001256545.2(MEGF10):c.205T>C (p.Cys69Arg) | Inborn genetic diseases [RCV004956400] | uncertain significance | 5 | 127339208 | 127339208 | Human | 1 | name |
| 597681757 | CV3560300 | single nucleotide variant | NM_001256545.2(MEGF10):c.259A>C (p.Met87Leu) | Inborn genetic diseases [RCV004952021] | uncertain significance | 5 | 127340570 | 127340570 | Human | 1 | name |
| 12840242 | CV368212 | single nucleotide variant | NM_001256545.2(MEGF10):c.1500G>A (p.Gln500=) | MEGF10-related disorder [RCV003959959]|MEGF10-related myopathy [RCV000560114]|not provided [RCV000430326] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 127420117 | 127420117 | Human | 1 | name , trait , alternate_id |
| 12846913 | CV368229 | single nucleotide variant | NM_001256545.2(MEGF10):c.2757C>T (p.Asn919=) | MEGF10-related myopathy [RCV000540851]|not specified [RCV000442560] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 127447585 | 127447585 | Human | 1 | name |
| 597698677 | CV3724853 | single nucleotide variant | NM_001256545.2(MEGF10):c.1041C>T (p.Gly347=) | MEGF10-related myopathy [RCV005033254] | uncertain significance | 5 | 127410512 | 127410512 | Human | 1 | name , trait |
| 597943367 | CV3757964 | single nucleotide variant | NM_001256545.2(MEGF10):c.2088C>T (p.Gly696=) | MEGF10-related myopathy [RCV005077963] | likely benign | 5 | 127435473 | 127435473 | Human | 1 | name , trait |
| 597943454 | CV3758005 | single nucleotide variant | NM_001256545.2(MEGF10):c.2547C>T (p.Leu849=) | MEGF10-related myopathy [RCV005078004] | likely benign | 5 | 127445512 | 127445512 | Human | 1 | name , trait |
| 597859603 | CV3769974 | single nucleotide variant | NM_001256545.2(MEGF10):c.1698C>T (p.Val566=) | MEGF10-related myopathy [RCV005105825] | likely benign | 5 | 127433367 | 127433367 | Human | 1 | name , trait |
| 597970508 | CV3821988 | single nucleotide variant | NM_001256545.2(MEGF10):c.1863G>A (p.Gly621=) | MEGF10-related myopathy [RCV005166451] | likely benign | 5 | 127434709 | 127434709 | Human | 1 | name , trait |
| 597869423 | CV3835172 | single nucleotide variant | NM_001256545.2(MEGF10):c.2961C>T (p.Gly987=) | MEGF10-related myopathy [RCV005176348] | likely benign | 5 | 127449203 | 127449203 | Human | 1 | name , trait |
| 597902524 | CV3835908 | single nucleotide variant | NM_001256545.2(MEGF10):c.2217G>T (p.Gly739=) | MEGF10-related myopathy [RCV005181443] | likely benign | 5 | 127438551 | 127438551 | Human | 1 | name , trait |
| 597891549 | CV3840150 | single nucleotide variant | NM_001256545.2(MEGF10):c.1758C>T (p.Tyr586=) | MEGF10-related myopathy [RCV005179849] | likely benign | 5 | 127433427 | 127433427 | Human | 1 | name , trait |
| 597905908 | CV3846630 | single nucleotide variant | NM_001256545.2(MEGF10):c.1365C>T (p.Arg455=) | MEGF10-related myopathy [RCV005182057] | likely benign | 5 | 127419179 | 127419179 | Human | 1 | name , trait |
| 597948975 | CV3848792 | single nucleotide variant | NM_001256545.2(MEGF10):c.1683C>T (p.Pro561=) | MEGF10-related myopathy [RCV005189729] | likely benign | 5 | 127422762 | 127422762 | Human | 1 | name , trait |
| 597878098 | CV3860357 | single nucleotide variant | NM_001256545.2(MEGF10):c.1848C>T (p.Ser616=) | MEGF10-related myopathy [RCV005198566] | likely benign | 5 | 127434694 | 127434694 | Human | 1 | name , trait |
| 598241188 | CV3985683 | single nucleotide variant | NM_001256545.2(MEGF10):c.248G>C (p.Gly83Ala) | Inborn genetic diseases [RCV005364771] | uncertain significance | 5 | 127340559 | 127340559 | Human | 1 | name |
| 8568707 | CV39924 | single nucleotide variant | NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp) | Congenital myopathy 10b, mild variant [RCV000023958]|MEGF10-related myopathy [RCV001325593] | pathogenic|uncertain significance | 5 | 127339214 | 127339214 | Human | 2 | name |
| 12901604 | CV406614 | single nucleotide variant | NM_001256545.2(MEGF10):c.1959C>T (p.Gly653=) | MEGF10-related myopathy [RCV001370936]|not provided [RCV000485107] | likely benign|uncertain significance | 5 | 127434805 | 127434805 | Human | 1 | name |
| 13465045 | CV454205 | single nucleotide variant | NM_001256545.2(MEGF10):c.1008C>T (p.Ser336=) | MEGF10-related myopathy [RCV000542592]|not specified [RCV000610443] | likely benign|conflicting interpretations of pathogenicity | 5 | 127410479 | 127410479 | Human | 1 | name |
| 13465761 | CV454687 | single nucleotide variant | NM_001256545.2(MEGF10):c.1263T>C (p.Cys421=) | MEGF10-related myopathy [RCV000543015] | likely benign | 5 | 127417770 | 127417770 | Human | 1 | name , trait |
| 13541672 | CV500954 | single nucleotide variant | NM_001256545.2(MEGF10):c.1278A>G (p.Gly426=) | MEGF10-related myopathy [RCV001497939]|not specified [RCV000616488] | likely benign | 5 | 127417785 | 127417785 | Human | 1 | name |
| 13540839 | CV501112 | single nucleotide variant | NM_001256545.2(MEGF10):c.1533C>T (p.Asp511=) | MEGF10-related disorder [RCV003945469]|MEGF10-related myopathy [RCV000649879]|not provided [RCV004707360]|not specified [RCV000615272] | likely benign | 5 | 127420150 | 127420150 | Human | 1 | name , trait , alternate_id |
| 13526285 | CV501116 | single nucleotide variant | NM_001256545.2(MEGF10):c.2853G>A (p.Thr951=) | MEGF10-related myopathy [RCV000649874]|not specified [RCV000603933] | likely benign | 5 | 127447681 | 127447681 | Human | 1 | name |
| 13536424 | CV501118 | single nucleotide variant | NM_001256545.2(MEGF10):c.2943G>A (p.Pro981=) | MEGF10-related myopathy [RCV001047407]|not provided [RCV003431140]|not specified [RCV000608979] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127449185 | 127449185 | Human | 1 | name |
| 13622512 | CV520472 | single nucleotide variant | NM_001256545.2(MEGF10):c.2157T>C (p.His719=) | MEGF10-related myopathy [RCV001079106]|not provided [RCV000842086] | likely benign|conflicting interpretations of pathogenicity | 5 | 127438491 | 127438491 | Human | 1 | name |
| 13622507 | CV520685 | single nucleotide variant | NM_001256545.2(MEGF10):c.267G>T (p.Arg89Ser) | MEGF10-related myopathy [RCV000649870] | uncertain significance | 5 | 127340578 | 127340578 | Human | 1 | name , trait |
| 13622509 | CV520699 | single nucleotide variant | NM_001256545.2(MEGF10):c.2892T>C (p.Asn964=) | MEGF10-related myopathy [RCV000649873]|not provided [RCV004705756] | likely benign | 5 | 127449134 | 127449134 | Human | 1 | name |
| 13622511 | CV520700 | single nucleotide variant | NM_001256545.2(MEGF10):c.2919G>A (p.Val973=) | MEGF10-related myopathy [RCV000649876] | likely benign|conflicting interpretations of pathogenicity | 5 | 127449161 | 127449161 | Human | 1 | name , trait |
| 13811563 | CV559985 | single nucleotide variant | NM_001256545.2(MEGF10):c.116G>C (p.Ser39Thr) | MEGF10-related myopathy [RCV000703146] | uncertain significance | 5 | 127331424 | 127331424 | Human | 1 | name , trait |
| 13810506 | CV576794 | single nucleotide variant | NM_001256545.2(MEGF10):c.1041C>A (p.Gly347=) | MEGF10-related myopathy [RCV002067005]|not provided [RCV000712289] | likely benign | 5 | 127410512 | 127410512 | Human | 1 | name |
| 14728498 | CV632923 | single nucleotide variant | NM_001256545.2(MEGF10):c.1467C>T (p.Gly489=) | MEGF10-related myopathy [RCV000816545] | likely benign|uncertain significance | 5 | 127420084 | 127420084 | Human | 1 | name , trait |
| 14708654 | CV655629 | single nucleotide variant | NM_001256545.2(MEGF10):c.2568C>T (p.Ile856=) | MEGF10-related myopathy [RCV002067438]|not provided [RCV000827215] | likely benign | 5 | 127445533 | 127445533 | Human | 1 | name |
| 15147882 | CV691666 | single nucleotide variant | NM_001256545.2(MEGF10):c.1593T>C (p.Asp531=) | MEGF10-related myopathy [RCV001443503] | likely benign | 5 | 127422672 | 127422672 | Human | 1 | name , trait |
| 15139533 | CV691667 | single nucleotide variant | NM_001256545.2(MEGF10):c.1812A>G (p.Pro604=) | MEGF10-related myopathy [RCV001464395] | likely benign | 5 | 127433481 | 127433481 | Human | 1 | name , trait |
| 15150798 | CV698758 | single nucleotide variant | NM_001256545.2(MEGF10):c.1434C>T (p.His478=) | Inborn genetic diseases [RCV005372496]|MEGF10-related myopathy [RCV000945565] | likely benign | 5 | 127420051 | 127420051 | Human | 2 | name |
| 15199492 | CV721191 | single nucleotide variant | NM_001256545.2(MEGF10):c.1050C>T (p.Cys350=) | MEGF10-related myopathy [RCV000890649] | likely benign | 5 | 127410521 | 127410521 | Human | 1 | name , trait |
| 15154574 | CV721192 | single nucleotide variant | NM_001256545.2(MEGF10):c.1224T>C (p.Ala408=) | MEGF10-related myopathy [RCV003642931] | likely benign | 5 | 127417731 | 127417731 | Human | 1 | name , trait |
| 15178841 | CV721193 | single nucleotide variant | NM_001256545.2(MEGF10):c.1545G>T (p.Thr515=) | MEGF10-related myopathy [RCV003528243] | likely benign | 5 | 127420162 | 127420162 | Human | 1 | name , trait |
| 15185046 | CV721194 | single nucleotide variant | NM_001256545.2(MEGF10):c.2139C>T (p.Ile713=) | not provided [RCV000886589] | likely benign | 5 | 127438473 | 127438473 | Human | | name |
| 15132083 | CV734825 | single nucleotide variant | NM_001256545.2(MEGF10):c.2022C>T (p.Thr674=) | MEGF10-related disorder [RCV004757309]|MEGF10-related myopathy [RCV000897894] | likely benign | 5 | 127435407 | 127435407 | Human | 1 | name , trait , alternate_id |
| 15123313 | CV749179 | single nucleotide variant | NM_001256545.2(MEGF10):c.1260C>T (p.Asp420=) | not provided [RCV000918799] | likely benign | 5 | 127417767 | 127417767 | Human | | name |
| 15133320 | CV749180 | single nucleotide variant | NM_001256545.2(MEGF10):c.1638C>T (p.His546=) | MEGF10-related myopathy [RCV000920494] | likely benign | 5 | 127422717 | 127422717 | Human | 1 | name , trait |
| 15168069 | CV749182 | single nucleotide variant | NM_001256545.2(MEGF10):c.2430C>T (p.Cys810=) | MEGF10-related myopathy [RCV001440439] | likely benign | 5 | 127443065 | 127443065 | Human | 1 | name , trait |
| 15119032 | CV749183 | single nucleotide variant | NM_001256545.2(MEGF10):c.2463C>A (p.Pro821=) | MEGF10-related myopathy [RCV000918076] | likely benign | 5 | 127443098 | 127443098 | Human | 1 | name , trait |
| 15115835 | CV764776 | single nucleotide variant | NM_001256545.2(MEGF10):c.1212C>T (p.Phe404=) | not provided [RCV000939560] | likely benign | 5 | 127417719 | 127417719 | Human | | name |
| 15098885 | CV764777 | single nucleotide variant | NM_001256545.2(MEGF10):c.1230G>A (p.Gln410=) | MEGF10-related myopathy [RCV001402421]|not provided [RCV000936375] | likely benign | 5 | 127417737 | 127417737 | Human | 1 | name |
| 15196084 | CV764778 | single nucleotide variant | NM_001256545.2(MEGF10):c.1791T>C (p.Asp597=) | MEGF10-related myopathy [RCV001426564] | likely benign | 5 | 127433460 | 127433460 | Human | 1 | name , trait |
| 15198587 | CV764779 | single nucleotide variant | NM_001256545.2(MEGF10):c.1989C>A (p.Gly663=) | MEGF10-related myopathy [RCV002544484] | likely benign | 5 | 127435374 | 127435374 | Human | 1 | name , trait |
| 15200890 | CV764780 | single nucleotide variant | NM_001256545.2(MEGF10):c.2601A>G (p.Leu867=) | MEGF10-related myopathy [RCV000935509] | likely benign | 5 | 127445566 | 127445566 | Human | 1 | name , trait |
| 15118975 | CV782116 | single nucleotide variant | NM_001256545.2(MEGF10):c.2811C>T (p.Ala937=) | MEGF10-related myopathy [RCV000979041] | likely benign | 5 | 127447639 | 127447639 | Human | 1 | name , trait |
| 21066783 | CV793068 | single nucleotide variant | NM_001256545.2(MEGF10):c.227A>G (p.Tyr76Cys) | not provided [RCV000992302] | uncertain significance | 5 | 127340538 | 127340538 | Human | | name |
| 26918408 | CV829896 | single nucleotide variant | NM_001256545.2(MEGF10):c.160C>A (p.Gln54Lys) | MEGF10-related myopathy [RCV001057866] | uncertain significance | 5 | 127339163 | 127339163 | Human | 1 | name , trait |
| 26921418 | CV829897 | single nucleotide variant | NM_001256545.2(MEGF10):c.209C>T (p.Thr70Met) | Inborn genetic diseases [RCV005367700]|MEGF10-related myopathy [RCV001060979]|not provided [RCV003490048] | uncertain significance | 5 | 127339212 | 127339212 | Human | 2 | name |
| 28888896 | CV892766 | single nucleotide variant | NM_001256545.2(MEGF10):c.1800C>T (p.Cys600=) | MEGF10-related myopathy [RCV001151910]|not provided [RCV001532518] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127433469 | 127433469 | Human | 1 | name |
| 28899290 | CV892769 | single nucleotide variant | NM_001256545.2(MEGF10):c.2424C>T (p.Ser808=) | MEGF10-related myopathy [RCV001155770] | uncertain significance | 5 | 127443059 | 127443059 | Human | 1 | name , trait |
| 126765728 | CV1005720 | single nucleotide variant | NM_001256545.2(MEGF10):c.407C>T (p.Ser136Phe) | MEGF10-related myopathy [RCV001320159] | uncertain significance | 5 | 127369997 | 127369997 | Human | 1 | name , trait |
| 126764242 | CV1005721 | single nucleotide variant | NM_001256545.2(MEGF10):c.449G>A (p.Ser150Asn) | MEGF10-related myopathy [RCV001319563] | uncertain significance | 5 | 127396568 | 127396568 | Human | 1 | name , trait |
| 126752143 | CV1005722 | single nucleotide variant | NM_001256545.2(MEGF10):c.461G>T (p.Cys154Phe) | MEGF10-related myopathy [RCV001316256] | uncertain significance | 5 | 127396580 | 127396580 | Human | 1 | name , trait |
| 126768867 | CV1026241 | single nucleotide variant | NM_001256545.2(MEGF10):c.568G>A (p.Asp190Asn) | MEGF10-related myopathy [RCV001343603] | uncertain significance | 5 | 127396687 | 127396687 | Human | 1 | name , trait |
| 126774112 | CV1026242 | single nucleotide variant | NM_001256545.2(MEGF10):c.935C>T (p.Pro312Leu) | MEGF10-related myopathy [RCV001346847]|not provided [RCV001569087] | uncertain significance | 5 | 127410406 | 127410406 | Human | 1 | name |
| 126918500 | CV1043205 | single nucleotide variant | NM_001256545.2(MEGF10):c.322C>T (p.His108Tyr) | MEGF10-related myopathy [RCV001361757] | uncertain significance | 5 | 127369912 | 127369912 | Human | 1 | name , trait |
| 126915940 | CV1043206 | single nucleotide variant | NM_001256545.2(MEGF10):c.533G>T (p.Cys178Phe) | MEGF10-related myopathy [RCV001360279] | uncertain significance | 5 | 127396652 | 127396652 | Human | 1 | name , trait |
| 126918198 | CV1043207 | single nucleotide variant | NM_001256545.2(MEGF10):c.808G>A (p.Glu270Lys) | MEGF10-related myopathy [RCV001372520] | uncertain significance | 5 | 127402573 | 127402573 | Human | 1 | name , trait |
| 126913182 | CV1043208 | single nucleotide variant | NM_001256545.2(MEGF10):c.871G>A (p.Ala291Thr) | MEGF10-related myopathy [RCV001359078] | uncertain significance | 5 | 127402636 | 127402636 | Human | 1 | name , trait |
| 127278189 | CV1093731 | single nucleotide variant | NM_001256545.2(MEGF10):c.3159G>A (p.Ser1053=) | MEGF10-related myopathy [RCV001444883] | likely benign | 5 | 127455534 | 127455534 | Human | 1 | name , trait |
| 127328311 | CV1136206 | single nucleotide variant | NM_001256545.2(MEGF10):c.3108A>G (p.Pro1036=) | MEGF10-related myopathy [RCV001486725] | likely benign | 5 | 127455483 | 127455483 | Human | 1 | name , trait |
| 127325235 | CV1136207 | single nucleotide variant | NM_001256545.2(MEGF10):c.3351A>C (p.Arg1117=) | MEGF10-related myopathy [RCV001505949] | likely benign | 5 | 127457246 | 127457246 | Human | 1 | name , trait |
| 127289463 | CV1152147 | single nucleotide variant | NM_001256545.2(MEGF10):c.529C>T (p.Arg177Cys) | MEGF10-related myopathy [RCV001865956]|not provided [RCV001509245] | uncertain significance | 5 | 127396648 | 127396648 | Human | 1 | name |
| 150428238 | CV1186817 | microsatellite | NM_001256545.2(MEGF10):c.3026-273_3026-269del | not provided [RCV001562001] | likely benign | 5 | 127455123 | 127455127 | Human | | name |
| 150507672 | CV1211234 | single nucleotide variant | NM_001256545.2(MEGF10):c.877A>G (p.Thr293Ala) | Inborn genetic diseases [RCV004039535]|MEGF10-related myopathy [RCV001866241]|not provided [RCV001596353] | uncertain significance | 5 | 127402642 | 127402642 | Human | 2 | name |
| 150555689 | CV1304844 | single nucleotide variant | NM_001256545.2(MEGF10):c.917G>A (p.Arg306Gln) | MEGF10-related myopathy [RCV002544149]|not provided [RCV001773092] | likely pathogenic|uncertain significance | 5 | 127402682 | 127402682 | Human | 1 | name |
| 150542854 | CV1314980 | deletion | NM_001256545.2(MEGF10):c.1713del (p.Cys572fs) | MEGF10-Related Myopathy [RCV001782433] | likely pathogenic | 5 | 127433382 | 127433382 | Human | | name , trait |
| 151831081 | CV1355877 | single nucleotide variant | NM_001256545.2(MEGF10):c.485C>G (p.Pro162Arg) | MEGF10-related myopathy [RCV002030808] | uncertain significance | 5 | 127396604 | 127396604 | Human | 1 | name , trait |
| 151782074 | CV1369775 | single nucleotide variant | NM_001256545.2(MEGF10):c.689A>G (p.His230Arg) | MEGF10-related myopathy [RCV001930532] | uncertain significance | 5 | 127398705 | 127398705 | Human | 1 | name , trait |
| 151891969 | CV1403346 | single nucleotide variant | NM_001256545.2(MEGF10):c.472G>A (p.Ala158Thr) | MEGF10-related myopathy [RCV001943620] | uncertain significance | 5 | 127396591 | 127396591 | Human | 1 | name , trait |
| 151756367 | CV1410665 | single nucleotide variant | NM_001256545.2(MEGF10):c.926A>T (p.Asp309Val) | MEGF10-related myopathy [RCV001969701] | uncertain significance | 5 | 127410397 | 127410397 | Human | 1 | name , trait |
| 151738093 | CV1432430 | single nucleotide variant | NM_001256545.2(MEGF10):c.610G>A (p.Asp204Asn) | Inborn genetic diseases [RCV002579532]|MEGF10-related myopathy [RCV002022043] | uncertain significance | 5 | 127396729 | 127396729 | Human | 2 | name |
| 151821827 | CV1449700 | single nucleotide variant | NM_001256545.2(MEGF10):c.632G>A (p.Arg211His) | MEGF10-related myopathy [RCV002013461] | uncertain significance | 5 | 127396751 | 127396751 | Human | 1 | name , trait |
| 151725290 | CV1455649 | single nucleotide variant | NM_001256545.2(MEGF10):c.985G>A (p.Gly329Arg) | MEGF10-related myopathy [RCV002020702] | uncertain significance | 5 | 127410456 | 127410456 | Human | 1 | name , trait |
| 151814121 | CV1460488 | single nucleotide variant | NM_001256545.2(MEGF10):c.524G>A (p.Gly175Asp) | MEGF10-related myopathy [RCV001878567] | uncertain significance | 5 | 127396643 | 127396643 | Human | 1 | name , trait |
| 151836496 | CV1469612 | single nucleotide variant | NM_001256545.2(MEGF10):c.863C>T (p.Thr288Met) | Inborn genetic diseases [RCV002552246]|MEGF10-related myopathy [RCV001880843] | uncertain significance | 5 | 127402628 | 127402628 | Human | 2 | name |
| 151884172 | CV1476838 | single nucleotide variant | NM_001256545.2(MEGF10):c.745G>A (p.Val249Ile) | MEGF10-related myopathy [RCV001887093] | uncertain significance | 5 | 127398761 | 127398761 | Human | 1 | name , trait |
| 151876701 | CV1479369 | single nucleotide variant | NM_001256545.2(MEGF10):c.740A>G (p.His247Arg) | MEGF10-related myopathy [RCV001885948] | uncertain significance | 5 | 127398756 | 127398756 | Human | 1 | name , trait |
| 151835770 | CV1489329 | single nucleotide variant | NM_001256545.2(MEGF10):c.476T>C (p.Leu159Pro) | MEGF10-related myopathy [RCV001902276] | uncertain significance | 5 | 127396595 | 127396595 | Human | 1 | name , trait |
| 151783687 | CV1500551 | single nucleotide variant | NM_001256545.2(MEGF10):c.899C>G (p.Pro300Arg) | MEGF10-related myopathy [RCV001972316] | uncertain significance | 5 | 127402664 | 127402664 | Human | 1 | name , trait |
| 151753014 | CV1508619 | single nucleotide variant | NM_001256545.2(MEGF10):c.806C>T (p.Pro269Leu) | MEGF10-related myopathy [RCV001986487] | uncertain significance | 5 | 127402571 | 127402571 | Human | 1 | name , trait |
| 151752953 | CV1508870 | single nucleotide variant | NM_001256545.2(MEGF10):c.914A>T (p.Glu305Val) | MEGF10-related myopathy [RCV002043479] | uncertain significance | 5 | 127402679 | 127402679 | Human | 1 | name , trait |
| 151753542 | CV1509079 | single nucleotide variant | NM_001256545.2(MEGF10):c.833C>T (p.Ser278Phe) | MEGF10-related myopathy [RCV002043533] | uncertain significance | 5 | 127402598 | 127402598 | Human | 1 | name , trait |
| 152041495 | CV1553537 | single nucleotide variant | NM_001256545.2(MEGF10):c.3384T>C (p.Ser1128=) | MEGF10-related myopathy [RCV002088023] | likely benign | 5 | 127457279 | 127457279 | Human | 1 | name , trait |
| 152044484 | CV1584322 | single nucleotide variant | NM_001256545.2(MEGF10):c.3000A>G (p.Arg1000=) | MEGF10-related myopathy [RCV002071432] | likely benign | 5 | 127454585 | 127454585 | Human | 1 | name , trait |
| 152147044 | CV1608091 | single nucleotide variant | NM_001256545.2(MEGF10):c.3411C>T (p.Ser1137=) | MEGF10-related myopathy [RCV002178879] | likely benign | 5 | 127457306 | 127457306 | Human | 1 | name , trait |
| 152098637 | CV1627110 | single nucleotide variant | NM_001256545.2(MEGF10):c.3138T>C (p.Cys1046=) | MEGF10-related myopathy [RCV002095209] | likely benign | 5 | 127455513 | 127455513 | Human | 1 | name , trait |
| 152157704 | CV1629933 | single nucleotide variant | NM_001256545.2(MEGF10):c.3252C>T (p.Val1084=) | MEGF10-related myopathy [RCV002202882] | likely benign | 5 | 127457147 | 127457147 | Human | 1 | name , trait |
| 156074570 | CV1890047 | single nucleotide variant | NM_001256545.2(MEGF10):c.690T>A (p.His230Gln) | MEGF10-related myopathy [RCV003079657] | uncertain significance | 5 | 127398706 | 127398706 | Human | 1 | name , trait |
| 156227010 | CV1896446 | single nucleotide variant | NM_001256545.2(MEGF10):c.3422G>A (p.Ter1141=) | MEGF10-related myopathy [RCV003085216] | likely benign|uncertain significance | 5 | 127457317 | 127457317 | Human | 1 | name , trait |
| 156032375 | CV1910905 | single nucleotide variant | NM_001256545.2(MEGF10):c.344A>G (p.His115Arg) | MEGF10-related myopathy [RCV002619908] | uncertain significance | 5 | 127369934 | 127369934 | Human | 1 | name , trait |
| 156435360 | CV1940717 | single nucleotide variant | NM_001256545.2(MEGF10):c.470G>A (p.Gly157Glu) | MEGF10-related myopathy [RCV003104822] | uncertain significance | 5 | 127396589 | 127396589 | Human | 1 | name , trait |
| 156415186 | CV1961870 | single nucleotide variant | NM_001256545.2(MEGF10):c.480C>A (p.Cys160Ter) | MEGF10-related myopathy [RCV002589023] | pathogenic | 5 | 127396599 | 127396599 | Human | 1 | name , trait |
| 156072483 | CV1989080 | single nucleotide variant | NM_001256545.2(MEGF10):c.3066C>T (p.Ser1022=) | MEGF10-related myopathy [RCV002638641] | likely benign | 5 | 127455441 | 127455441 | Human | 1 | name , trait |
| 156329335 | CV1992578 | single nucleotide variant | NM_001256545.2(MEGF10):c.878C>T (p.Thr293Ile) | MEGF10-related myopathy [RCV002649732] | uncertain significance | 5 | 127402643 | 127402643 | Human | 1 | name , trait |
| 156113208 | CV1993734 | single nucleotide variant | NM_001256545.2(MEGF10):c.706C>A (p.Gln236Lys) | MEGF10-related myopathy [RCV002662570] | uncertain significance | 5 | 127398722 | 127398722 | Human | 1 | name , trait |
| 155948294 | CV1996622 | single nucleotide variant | NM_001256545.2(MEGF10):c.917G>C (p.Arg306Pro) | MEGF10-related myopathy [RCV002685872] | uncertain significance | 5 | 127402682 | 127402682 | Human | 1 | name , trait |
| 156176997 | CV2000548 | single nucleotide variant | NM_001256545.2(MEGF10):c.349C>T (p.Arg117Cys) | MEGF10-related myopathy [RCV002642906] | uncertain significance | 5 | 127369939 | 127369939 | Human | 1 | name , trait |
| 156270588 | CV2008277 | single nucleotide variant | NM_001256545.2(MEGF10):c.557C>G (p.Thr186Ser) | MEGF10-related myopathy [RCV002714968] | uncertain significance | 5 | 127396676 | 127396676 | Human | 1 | name , trait |
| 155949624 | CV2026125 | single nucleotide variant | NM_001256545.2(MEGF10):c.542G>T (p.Arg181Leu) | MEGF10-related myopathy [RCV002730609] | uncertain significance | 5 | 127396661 | 127396661 | Human | 1 | name , trait |
| 156211518 | CV2036923 | single nucleotide variant | NM_001256545.2(MEGF10):c.966G>C (p.Glu322Asp) | MEGF10-related myopathy [RCV002790260] | uncertain significance | 5 | 127410437 | 127410437 | Human | 1 | name , trait |
| 155909329 | CV2072991 | single nucleotide variant | NM_001256545.2(MEGF10):c.980T>C (p.Val327Ala) | MEGF10-related myopathy [RCV002837590] | uncertain significance | 5 | 127410451 | 127410451 | Human | 1 | name , trait |
| 156103361 | CV2084274 | single nucleotide variant | NM_001256545.2(MEGF10):c.3018C>T (p.Ser1006=) | MEGF10-related myopathy [RCV002848166] | likely benign | 5 | 127454603 | 127454603 | Human | 1 | name , trait |
| 156021783 | CV2105767 | single nucleotide variant | NM_001256545.2(MEGF10):c.622G>A (p.Gly208Arg) | MEGF10-related myopathy [RCV002923099] | uncertain significance | 5 | 127396741 | 127396741 | Human | 1 | name , trait |
| 156312378 | CV2107625 | single nucleotide variant | NM_001256545.2(MEGF10):c.493G>A (p.Gly165Arg) | MEGF10-related myopathy [RCV002937247] | uncertain significance | 5 | 127396612 | 127396612 | Human | 1 | name , trait |
| 156369269 | CV2109588 | single nucleotide variant | NM_001256545.2(MEGF10):c.578A>G (p.Gln193Arg) | MEGF10-related myopathy [RCV002942197] | uncertain significance | 5 | 127396697 | 127396697 | Human | 1 | name , trait |
| 156038301 | CV2124729 | single nucleotide variant | NM_001256545.2(MEGF10):c.815G>A (p.Arg272His) | MEGF10-related myopathy [RCV002923809] | uncertain significance | 5 | 127402580 | 127402580 | Human | 1 | name , trait |
| 156227668 | CV2164796 | deletion | NM_001256545.2(MEGF10):c.1169del (p.Gly390fs) | MEGF10-related myopathy [RCV003042965] | pathogenic | 5 | 127417674 | 127417674 | Human | 1 | name , trait |
| 156402655 | CV2189493 | single nucleotide variant | NM_001256545.2(MEGF10):c.702T>A (p.Cys234Ter) | MEGF10-related myopathy [RCV003052455] | pathogenic | 5 | 127398718 | 127398718 | Human | 1 | name , trait |
| 156402750 | CV2189538 | single nucleotide variant | NM_001256545.2(MEGF10):c.3204T>C (p.Thr1068=) | MEGF10-related myopathy [RCV003052465] | likely benign | 5 | 127455579 | 127455579 | Human | 1 | name , trait |
| 156364852 | CV2272006 | single nucleotide variant | NM_001256545.2(MEGF10):c.521G>A (p.Arg174Gln) | Inborn genetic diseases [RCV002813386] | uncertain significance | 5 | 127396640 | 127396640 | Human | 1 | name |
| 156292863 | CV2306274 | single nucleotide variant | NM_001256545.2(MEGF10):c.457C>G (p.Gln153Glu) | Inborn genetic diseases [RCV002897302] | uncertain significance | 5 | 127396576 | 127396576 | Human | 1 | name |
| 156056510 | CV2326669 | single nucleotide variant | NM_001256545.2(MEGF10):c.623G>C (p.Gly208Ala) | Inborn genetic diseases [RCV002950412] | uncertain significance | 5 | 127396742 | 127396742 | Human | 1 | name |
| 243050849 | CV2417667 | single nucleotide variant | NM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg) | Congenital myopathy 10b, mild variant [RCV003152538] | pathogenic | 5 | 127369942 | 127369942 | Human | 1 | name |
| 11552117 | CV251623 | single nucleotide variant | NM_001256545.2(MEGF10):c.616G>A (p.Val206Ile) | MEGF10-related myopathy [RCV000372429]|not specified [RCV000253947] | benign|likely benign | 5 | 127396735 | 127396735 | Human | 1 | name |
| 11550093 | CV251635 | single nucleotide variant | NM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=) | MEGF10-related myopathy [RCV000554801]|not provided [RCV001705375]|not specified [RCV000251282] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 127454588 | 127454588 | Human | 1 | name |
| 11544104 | CV251636 | single nucleotide variant | NM_001256545.2(MEGF10):c.3162G>A (p.Pro1054=) | MEGF10-related myopathy [RCV000560682]|not provided [RCV004706742]|not specified [RCV000243344] | benign|likely benign | 5 | 127455537 | 127455537 | Human | 1 | name |
| 11551294 | CV251638 | single nucleotide variant | NM_001256545.2(MEGF10):c.3387T>A (p.Gly1129=) | MEGF10-related myopathy [RCV000268761]|not specified [RCV000252848] | benign|likely benign | 5 | 127457282 | 127457282 | Human | 1 | name |
| 401856570 | CV2752494 | single nucleotide variant | NM_001256545.2(MEGF10):c.484C>G (p.Pro162Ala) | MEGF10-related myopathy [RCV003340832] | uncertain significance | 5 | 127396603 | 127396603 | Human | 1 | name , trait |
| 401863080 | CV2772103 | single nucleotide variant | NM_001256545.2(MEGF10):c.328G>A (p.Ala110Thr) | Inborn genetic diseases [RCV003343536] | uncertain significance | 5 | 127369918 | 127369918 | Human | 1 | name |
| 401917829 | CV2827968 | single nucleotide variant | NM_001256545.2(MEGF10):c.3321C>A (p.Ile1107=) | not provided [RCV003429749] | likely benign | 5 | 127457216 | 127457216 | Human | | name |
| 405866924 | CV2842440 | single nucleotide variant | NM_001256545.2(MEGF10):c.302G>A (p.Ser101Asn) | EBV-positive nodal T- and NK-cell lymphoma [RCV004557797] | likely benign | 5 | 127340613 | 127340613 | Human | | name |
| 11585296 | CV295127 | single nucleotide variant | NM_001256545.2(MEGF10):c.631C>T (p.Arg211Cys) | Inborn genetic diseases [RCV004948267]|MEGF10-related myopathy [RCV000279911]|not provided [RCV003486821] | uncertain significance | 5 | 127396750 | 127396750 | Human | 2 | name |
| 11587096 | CV300567 | single nucleotide variant | NM_001256545.2(MEGF10):c.755A>G (p.Glu252Gly) | MEGF10-related myopathy [RCV000292790] | uncertain significance | 5 | 127398771 | 127398771 | Human | 1 | name , trait |
| 11596068 | CV300736 | single nucleotide variant | NM_001256545.2(MEGF10):c.512C>T (p.Ala171Val) | Inborn genetic diseases [RCV003258789]|MEGF10-related myopathy [RCV000378144] | uncertain significance | 5 | 127396631 | 127396631 | Human | 2 | name |
| 11598213 | CV300744 | single nucleotide variant | NM_001256545.2(MEGF10):c.669T>A (p.Asp223Glu) | Inborn genetic diseases [RCV004021980]|MEGF10-related myopathy [RCV000403017]|not provided [RCV001509246] | uncertain significance | 5 | 127398685 | 127398685 | Human | 2 | name |
| 402495936 | CV3025331 | single nucleotide variant | NM_001256545.2(MEGF10):c.721C>T (p.Gln241Ter) | MEGF10-related myopathy [RCV003644368] | pathogenic | 5 | 127398737 | 127398737 | Human | 1 | name , trait |
| 405692701 | CV3281807 | single nucleotide variant | NM_001256545.2(MEGF10):c.635G>C (p.Cys212Ser) | Inborn genetic diseases [RCV004423958] | uncertain significance | 5 | 127396754 | 127396754 | Human | 1 | name |
| 407502470 | CV3449749 | single nucleotide variant | NM_001256545.2(MEGF10):c.869A>G (p.Asp290Gly) | Inborn genetic diseases [RCV004645156] | uncertain significance | 5 | 127402634 | 127402634 | Human | 1 | name |
| 407502475 | CV3449751 | single nucleotide variant | NM_001256545.2(MEGF10):c.540C>A (p.Asp180Glu) | Inborn genetic diseases [RCV004645158] | likely benign | 5 | 127396659 | 127396659 | Human | 1 | name |
| 12741847 | CV361182 | deletion | NM_001256545.2(MEGF10):c.1557del (p.Trp520fs) | MEGF10-related myopathy [RCV000415251] | pathogenic|likely pathogenic | 5 | 127420174 | 127420174 | Human | 1 | name , trait |
| 12843524 | CV367867 | single nucleotide variant | NM_001256545.2(MEGF10):c.3189G>A (p.Glu1063=) | MEGF10-related myopathy [RCV000544955]|not provided [RCV004705541]|not specified [RCV000436370] | benign|likely benign | 5 | 127455564 | 127455564 | Human | 1 | name |
| 12846321 | CV368126 | single nucleotide variant | NM_001256545.2(MEGF10):c.733G>T (p.Val245Leu) | Inborn genetic diseases [RCV005365297]|not provided [RCV000441425] | uncertain significance | 5 | 127398749 | 127398749 | Human | 1 | name |
| 12833713 | CV368231 | single nucleotide variant | NM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=) | MEGF10-related myopathy [RCV000945415]|not provided [RCV001698178] | likely benign|conflicting interpretations of pathogenicity | 5 | 127455555 | 127455555 | Human | 1 | name |
| 597933660 | CV3793435 | single nucleotide variant | NM_001256545.2(MEGF10):c.3195T>C (p.Asn1065=) | MEGF10-related myopathy [RCV005132091] | likely benign | 5 | 127455570 | 127455570 | Human | 1 | name , trait |
| 597853344 | CV3805794 | single nucleotide variant | NM_001256545.2(MEGF10):c.3135G>A (p.Glu1045=) | MEGF10-related myopathy [RCV005145724] | likely benign | 5 | 127455510 | 127455510 | Human | 1 | name , trait |
| 597931973 | CV3837950 | single nucleotide variant | NM_001256545.2(MEGF10):c.3312C>T (p.Asn1104=) | MEGF10-related myopathy [RCV005185919] | likely benign | 5 | 127457207 | 127457207 | Human | 1 | name , trait |
| 598226540 | CV3895816 | deletion | NM_001256545.2(MEGF10):c.1246del (p.Gln416fs) | Congenital myopathy 10b, mild variant [RCV005362108] | likely pathogenic | 5 | 127417752 | 127417752 | Human | 1 | name |
| 8568704 | CV39921 | deletion | NM_001256545.2(MEGF10):c.1325del (p.Pro442fs) | MEGF10-related myopathy [RCV000023954] | pathogenic | 5 | 127419136 | 127419136 | Human | 1 | name , trait |
| 8568706 | CV39923 | single nucleotide variant | NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg) | Congenital myopathy 10b, mild variant [RCV000023957]|MEGF10-related myopathy [RCV001385515] | pathogenic | 5 | 127410447 | 127410447 | Human | 2 | name |
| 617149391 | CV4017518 | single nucleotide variant | NM_001256545.2(MEGF10):c.800C>A (p.Pro267His) | not provided [RCV005417176] | uncertain significance | 5 | 127402565 | 127402565 | Human | | name |
| 617154359 | CV4022635 | single nucleotide variant | NM_001256545.2(MEGF10):c.782G>C (p.Gly261Ala) | not provided [RCV005429993] | uncertain significance | 5 | 127402547 | 127402547 | Human | | name |
| 12902368 | CV406612 | single nucleotide variant | NM_001256545.2(MEGF10):c.452G>A (p.Arg151Gln) | MEGF10-related myopathy [RCV000649862]|not provided [RCV000486927] | uncertain significance | 5 | 127396571 | 127396571 | Human | 1 | name |
| 12893675 | CV406613 | single nucleotide variant | NM_001256545.2(MEGF10):c.625G>T (p.Glu209Ter) | not provided [RCV000479831] | pathogenic | 5 | 127396744 | 127396744 | Human | | name |
| 12893897 | CV406616 | deletion | NM_001256545.2(MEGF10):c.2407del (p.Asp803fs) | not provided [RCV000480679] | likely pathogenic | 5 | 127443042 | 127443042 | Human | | name |
| 13494949 | CV454199 | single nucleotide variant | NM_001256545.2(MEGF10):c.520C>T (p.Arg174Trp) | MEGF10-related myopathy [RCV000536777] | uncertain significance | 5 | 127396639 | 127396639 | Human | 1 | name , trait |
| 13499679 | CV454201 | single nucleotide variant | NM_001256545.2(MEGF10):c.743A>G (p.His248Arg) | MEGF10-related myopathy [RCV000539967] | uncertain significance | 5 | 127398759 | 127398759 | Human | 1 | name , trait |
| 13473144 | CV454686 | single nucleotide variant | NM_001256545.2(MEGF10):c.652G>A (p.Gly218Arg) | MEGF10-related myopathy [RCV000525245]|not provided [RCV005001080] | likely benign|uncertain significance | 5 | 127396771 | 127396771 | Human | 1 | name |
| 13528876 | CV500633 | single nucleotide variant | NM_001256545.2(MEGF10):c.3123G>A (p.Pro1041=) | MEGF10-related myopathy [RCV003642904]|not provided [RCV001704749] | likely benign | 5 | 127455498 | 127455498 | Human | 1 | name |
| 13622499 | CV520688 | single nucleotide variant | NM_001256545.2(MEGF10):c.581G>A (p.Arg194Lys) | MEGF10-related myopathy [RCV000649860]|not provided [RCV003486915] | uncertain significance | 5 | 127396700 | 127396700 | Human | 1 | name |
| 13622504 | CV520873 | single nucleotide variant | NM_001256545.2(MEGF10):c.541C>T (p.Arg181Cys) | MEGF10-related myopathy [RCV000649867] | uncertain significance | 5 | 127396660 | 127396660 | Human | 1 | name , trait |
| 13622503 | CV520875 | single nucleotide variant | NM_001256545.2(MEGF10):c.956T>C (p.Leu319Pro) | MEGF10-related myopathy [RCV000649866] | uncertain significance | 5 | 127410427 | 127410427 | Human | 1 | name , trait |
| 13810909 | CV559987 | single nucleotide variant | NM_001256545.2(MEGF10):c.365A>G (p.Asn122Ser) | MEGF10-related myopathy [RCV000702817] | likely benign|uncertain significance | 5 | 127369955 | 127369955 | Human | 1 | name , trait |
| 13805930 | CV559989 | single nucleotide variant | NM_001256545.2(MEGF10):c.482A>G (p.Asn161Ser) | Inborn genetic diseases [RCV004639319]|MEGF10-related myopathy [RCV000685994] | uncertain significance | 5 | 127396601 | 127396601 | Human | 2 | name |
| 13820218 | CV559991 | single nucleotide variant | NM_001256545.2(MEGF10):c.596A>G (p.Asn199Ser) | MEGF10-related myopathy [RCV000694785] | uncertain significance | 5 | 127396715 | 127396715 | Human | 1 | name , trait |
| 13804788 | CV560100 | single nucleotide variant | NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser) | Congenital myopathy 10b, mild variant [RCV003989586]|MEGF10-related myopathy [RCV000699779] | likely pathogenic|uncertain significance | 5 | 127340630 | 127340630 | Human | 2 | name |
| 13822229 | CV560102 | single nucleotide variant | NM_001256545.2(MEGF10):c.451C>T (p.Arg151Trp) | Inborn genetic diseases [RCV002533471]|MEGF10-related myopathy [RCV000697024]|not provided [RCV001756212] | uncertain significance | 5 | 127396570 | 127396570 | Human | 2 | name |
| 13803629 | CV562591 | single nucleotide variant | NM_001256545.2(MEGF10):c.350G>A (p.Arg117His) | MEGF10-related myopathy [RCV000685005] | uncertain significance | 5 | 127369940 | 127369940 | Human | 1 | name , trait |
| 14706129 | CV632914 | single nucleotide variant | NM_001256545.2(MEGF10):c.446C>T (p.Thr149Ile) | MEGF10-related myopathy [RCV000791896] | uncertain significance | 5 | 127396565 | 127396565 | Human | 1 | name , trait |
| 14734002 | CV632915 | single nucleotide variant | NM_001256545.2(MEGF10):c.530G>A (p.Arg177His) | Inborn genetic diseases [RCV003372880]|MEGF10-related myopathy [RCV000818936] | uncertain significance | 5 | 127396649 | 127396649 | Human | 2 | name |
| 14724143 | CV632916 | single nucleotide variant | NM_001256545.2(MEGF10):c.553G>A (p.Gly185Ser) | MEGF10-related myopathy [RCV000798276] | uncertain significance | 5 | 127396672 | 127396672 | Human | 1 | name , trait |
| 14719908 | CV632917 | single nucleotide variant | NM_001256545.2(MEGF10):c.682G>C (p.Gly228Arg) | MEGF10-related myopathy [RCV000812807] | uncertain significance | 5 | 127398698 | 127398698 | Human | 1 | name , trait |
| 14707392 | CV632918 | single nucleotide variant | NM_001256545.2(MEGF10):c.916C>T (p.Arg306Trp) | Inborn genetic diseases [RCV002537297]|MEGF10-related myopathy [RCV000808780] | uncertain significance | 5 | 127402681 | 127402681 | Human | 2 | name |
| 14711398 | CV655630 | single nucleotide variant | NM_001256545.2(MEGF10):c.3033A>T (p.Gly1011=) | MEGF10-related myopathy [RCV001294277]|not provided [RCV000828029] | likely benign|uncertain significance | 5 | 127455408 | 127455408 | Human | 1 | name |
| 14721434 | CV660518 | deletion | NM_001256545.2(MEGF10):c.1305+238_1305+239del | not provided [RCV000831668] | likely benign | 5 | 127418050 | 127418051 | Human | | name |
| 15132593 | CV749184 | single nucleotide variant | NM_001256545.2(MEGF10):c.3063C>T (p.Cys1021=) | MEGF10-related myopathy [RCV001487110] | likely benign | 5 | 127455438 | 127455438 | Human | 1 | name , trait |
| 15122152 | CV764781 | single nucleotide variant | NM_001256545.2(MEGF10):c.3207A>G (p.Ser1069=) | MEGF10-related myopathy [RCV001500174] | likely benign | 5 | 127455582 | 127455582 | Human | 1 | name , trait |
| 21069118 | CV795613 | single nucleotide variant | NM_001256545.2(MEGF10):c.446C>A (p.Thr149Asn) | not provided [RCV000998423] | uncertain significance | 5 | 127396565 | 127396565 | Human | | name |
| 26891381 | CV829898 | single nucleotide variant | NM_001256545.2(MEGF10):c.304G>A (p.Gly102Arg) | Inborn genetic diseases [RCV003160349]|MEGF10-related myopathy [RCV001046419] | likely benign|uncertain significance | 5 | 127340615 | 127340615 | Human | 2 | name |
| 26917291 | CV829899 | single nucleotide variant | NM_001256545.2(MEGF10):c.320C>A (p.Pro107His) | MEGF10-related myopathy [RCV001056905] | uncertain significance | 5 | 127369910 | 127369910 | Human | 1 | name , trait |
| 26890330 | CV829900 | single nucleotide variant | NM_001256545.2(MEGF10):c.493G>C (p.Gly165Arg) | MEGF10-related myopathy [RCV001045978] | uncertain significance | 5 | 127396612 | 127396612 | Human | 1 | name , trait |
| 26900013 | CV829902 | single nucleotide variant | NM_001256545.2(MEGF10):c.542G>A (p.Arg181His) | Inborn genetic diseases [RCV002552083]|MEGF10-related myopathy [RCV001035174]|not specified [RCV003479269] | uncertain significance | 5 | 127396661 | 127396661 | Human | 2 | name |
| 26902325 | CV829903 | single nucleotide variant | NM_001256545.2(MEGF10):c.550C>T (p.Gln184Ter) | MEGF10-related myopathy [RCV001071858] | pathogenic | 5 | 127396669 | 127396669 | Human | 1 | name , trait |
| 26887894 | CV829904 | single nucleotide variant | NM_001256545.2(MEGF10):c.571T>C (p.Cys191Arg) | Inborn genetic diseases [RCV004950153]|MEGF10-related myopathy [RCV001045054] | uncertain significance | 5 | 127396690 | 127396690 | Human | 2 | name |
| 26922024 | CV829905 | single nucleotide variant | NM_001256545.2(MEGF10):c.726T>G (p.Asn242Lys) | MEGF10-related myopathy [RCV001061519] | uncertain significance | 5 | 127398742 | 127398742 | Human | 1 | name , trait |
| 26886463 | CV829906 | single nucleotide variant | NM_001256545.2(MEGF10):c.733G>A (p.Val245Met) | MEGF10-related myopathy [RCV001066075] | uncertain significance | 5 | 127398749 | 127398749 | Human | 1 | name , trait |
| 26903633 | CV829907 | single nucleotide variant | NM_001256545.2(MEGF10):c.775T>A (p.Trp259Arg) | MEGF10-related myopathy [RCV001036240]|not provided [RCV004998582] | uncertain significance | 5 | 127398791 | 127398791 | Human | 1 | name |
| 26912757 | CV829908 | single nucleotide variant | NM_001256545.2(MEGF10):c.778A>C (p.Met260Leu) | MEGF10-related myopathy [RCV001039613] | uncertain significance | 5 | 127398794 | 127398794 | Human | 1 | name , trait |
| 26921480 | CV829909 | single nucleotide variant | NM_001256545.2(MEGF10):c.814C>A (p.Arg272Ser) | Inborn genetic diseases [RCV004031940]|MEGF10-related myopathy [RCV001061040] | uncertain significance | 5 | 127402579 | 127402579 | Human | 2 | name |
| 26917910 | CV829910 | single nucleotide variant | NM_001256545.2(MEGF10):c.974A>G (p.Gln325Arg) | Inborn genetic diseases [RCV004031307]|MEGF10-related myopathy [RCV001042947] | likely benign|uncertain significance | 5 | 127410445 | 127410445 | Human | 2 | name |
| 28898805 | CV892753 | single nucleotide variant | NM_001256545.2(MEGF10):c.418G>A (p.Asp140Asn) | Inborn genetic diseases [RCV004639484]|MEGF10-related myopathy [RCV001155580] | uncertain significance | 5 | 127396537 | 127396537 | Human | 2 | name |
| 28898809 | CV892754 | single nucleotide variant | NM_001256545.2(MEGF10):c.422G>A (p.Gly141Asp) | Inborn genetic diseases [RCV002559497]|MEGF10-related myopathy [RCV001155581] | uncertain significance | 5 | 127396541 | 127396541 | Human | 2 | name |
| 28898811 | CV892755 | single nucleotide variant | NM_001256545.2(MEGF10):c.451C>G (p.Arg151Gly) | MEGF10-related myopathy [RCV001155582] | uncertain significance | 5 | 127396570 | 127396570 | Human | 1 | name , trait |
| 38491207 | CV923740 | single nucleotide variant | NM_001256545.2(MEGF10):c.401A>G (p.Asn134Ser) | Inborn genetic diseases [RCV002562564]|MEGF10-related myopathy [RCV001222679]|not provided [RCV002267086] | uncertain significance | 5 | 127369991 | 127369991 | Human | 2 | name |
| 38489679 | CV923741 | single nucleotide variant | NM_001256545.2(MEGF10):c.814C>T (p.Arg272Cys) | MEGF10-related myopathy [RCV001221808]|not provided [RCV005235538] | uncertain significance | 5 | 127402579 | 127402579 | Human | 1 | name |
| 38481428 | CV944273 | single nucleotide variant | NM_001256545.2(MEGF10):c.505T>G (p.Cys169Gly) | MEGF10-related myopathy [RCV001235114] | uncertain significance | 5 | 127396624 | 127396624 | Human | 1 | name , trait |
| 38475259 | CV944274 | single nucleotide variant | NM_001256545.2(MEGF10):c.538G>A (p.Asp180Asn) | Inborn genetic diseases [RCV002567868]|MEGF10-related myopathy [RCV001232548] | uncertain significance | 5 | 127396657 | 127396657 | Human | 2 | name |
| 38465566 | CV944275 | single nucleotide variant | NM_001256545.2(MEGF10):c.952G>A (p.Val318Ile) | MEGF10-related myopathy [RCV001230168]|not provided [RCV001509247] | uncertain significance | 5 | 127410423 | 127410423 | Human | 1 | name |
| 38493658 | CV953933 | single nucleotide variant | NM_001256545.2(MEGF10):c.700T>A (p.Cys234Ser) | MEGF10-related myopathy [RCV001240839] | uncertain significance | 5 | 127398716 | 127398716 | Human | 1 | name , trait |
| 38497077 | CV960547 | indel | NM_001256545.2(MEGF10):c.1591-6_1591-1delinsC | MEGF10-related myopathy [RCV001242956] | likely pathogenic | 5 | 127422664 | 127422669 | Human | | name , trait |
| 126732324 | CV990536 | single nucleotide variant | NM_001256545.2(MEGF10):c.395G>A (p.Gly132Glu) | MEGF10-related myopathy [RCV001294543] | uncertain significance | 5 | 127369985 | 127369985 | Human | 1 | name , trait |
| 126731139 | CV990537 | single nucleotide variant | NM_001256545.2(MEGF10):c.424G>T (p.Asp142Tyr) | Inborn genetic diseases [RCV002539535]|MEGF10-related myopathy [RCV001303850] | uncertain significance | 5 | 127396543 | 127396543 | Human | 2 | name |
| 126760785 | CV990538 | single nucleotide variant | NM_001256545.2(MEGF10):c.511G>A (p.Ala171Thr) | MEGF10-related myopathy [RCV001299899] | uncertain significance | 5 | 127396630 | 127396630 | Human | 1 | name , trait |
| 126757251 | CV990539 | single nucleotide variant | NM_001256545.2(MEGF10):c.572G>A (p.Cys191Tyr) | MEGF10-related myopathy [RCV001308363] | uncertain significance | 5 | 127396691 | 127396691 | Human | 1 | name , trait |
| 126746873 | CV990540 | single nucleotide variant | NM_001256545.2(MEGF10):c.656C>T (p.Ala219Val) | Inborn genetic diseases [RCV002543157]|MEGF10-related myopathy [RCV001306164] | uncertain significance | 5 | 127396775 | 127396775 | Human | 2 | name |
| 126739542 | CV990541 | single nucleotide variant | NM_001256545.2(MEGF10):c.769T>C (p.Ser257Pro) | MEGF10-related myopathy [RCV001305153] | uncertain significance | 5 | 127398785 | 127398785 | Human | 1 | name , trait |
| 126753429 | CV990542 | single nucleotide variant | NM_001256545.2(MEGF10):c.944C>T (p.Thr315Ile) | MEGF10-related myopathy [RCV001307395] | uncertain significance | 5 | 127410415 | 127410415 | Human | 1 | name , trait |
| 156074540 | CV1890046 | single nucleotide variant | NM_001256545.2(MEGF10):c.1363C>T (p.Arg455Cys) | MEGF10-related myopathy [RCV003079656] | uncertain significance | 5 | 127419177 | 127419177 | Human | 1 | name , trait |
| 156411980 | CV1894119 | single nucleotide variant | NM_001256545.2(MEGF10):c.1282T>A (p.Cys428Ser) | MEGF10-related myopathy [RCV003072706] | uncertain significance | 5 | 127417789 | 127417789 | Human | 1 | name , trait |
| 156378379 | CV1927282 | single nucleotide variant | NM_001256545.2(MEGF10):c.1657A>C (p.Thr553Pro) | MEGF10-related myopathy [RCV002634052] | uncertain significance | 5 | 127422736 | 127422736 | Human | 1 | name , trait |
| 156378791 | CV1927333 | single nucleotide variant | NM_001256545.2(MEGF10):c.2482T>A (p.Cys828Ser) | MEGF10-related myopathy [RCV002634092] | uncertain significance | 5 | 127443117 | 127443117 | Human | 1 | name , trait |
| 156440571 | CV1943628 | single nucleotide variant | NM_001256545.2(MEGF10):c.2338T>C (p.Phe780Leu) | Inborn genetic diseases [RCV004636698]|MEGF10-related myopathy [RCV003110606] | uncertain significance | 5 | 127440843 | 127440843 | Human | 2 | name |
| 156444998 | CV1949054 | single nucleotide variant | NM_001256545.2(MEGF10):c.1841T>A (p.Ile614Asn) | MEGF10-related myopathy [RCV003115932] | uncertain significance | 5 | 127434687 | 127434687 | Human | 1 | name , trait |
| 156061084 | CV2008268 | single nucleotide variant | NM_001256545.2(MEGF10):c.2029A>G (p.Asn677Asp) | MEGF10-related myopathy [RCV002705388] | uncertain significance | 5 | 127435414 | 127435414 | Human | 1 | name , trait |
| 156034206 | CV2029921 | single nucleotide variant | NM_001256545.2(MEGF10):c.2687C>A (p.Thr896Asn) | MEGF10-related myopathy [RCV002735927] | uncertain significance | 5 | 127445652 | 127445652 | Human | 1 | name , trait |
| 156047761 | CV2091293 | single nucleotide variant | NM_001256545.2(MEGF10):c.1138C>T (p.Pro380Ser) | MEGF10-related myopathy [RCV002886054] | uncertain significance | 5 | 127417645 | 127417645 | Human | 1 | name , trait |
| 156022286 | CV2105812 | single nucleotide variant | NM_001256545.2(MEGF10):c.1178G>A (p.Gly393Glu) | MEGF10-related myopathy [RCV002923122] | uncertain significance | 5 | 127417685 | 127417685 | Human | 1 | name , trait |
| 156031534 | CV2117529 | single nucleotide variant | NM_001256545.2(MEGF10):c.2302G>A (p.Asp768Asn) | MEGF10-related myopathy [RCV002923535] | uncertain significance | 5 | 127440807 | 127440807 | Human | 1 | name , trait |
| 156382591 | CV2118145 | single nucleotide variant | NM_001256545.2(MEGF10):c.1177G>A (p.Gly393Arg) | MEGF10-related myopathy [RCV002943254] | uncertain significance | 5 | 127417684 | 127417684 | Human | 1 | name , trait |
| 156026427 | CV2145718 | single nucleotide variant | NM_001256545.2(MEGF10):c.2878G>A (p.Val960Met) | MEGF10-related myopathy [RCV003018481] | uncertain significance | 5 | 127449120 | 127449120 | Human | 1 | name , trait |
| 156017886 | CV2151438 | single nucleotide variant | NM_001256545.2(MEGF10):c.2663C>G (p.Ser888Ter) | MEGF10-related myopathy [RCV003018083] | pathogenic | 5 | 127445628 | 127445628 | Human | 1 | name , trait |
| 156402074 | CV2191419 | single nucleotide variant | NM_001256545.2(MEGF10):c.2351A>G (p.His784Arg) | MEGF10-related myopathy [RCV003052404] | uncertain significance | 5 | 127440856 | 127440856 | Human | 1 | name , trait |
| 156397669 | CV2197400 | single nucleotide variant | NM_001256545.2(MEGF10):c.1508A>G (p.Asn503Ser) | Inborn genetic diseases [RCV002655220]|not provided [RCV003491267] | uncertain significance | 5 | 127420125 | 127420125 | Human | 1 | name |
| 243051425 | CV2403999 | single nucleotide variant | NM_001256545.2(MEGF10):c.1099C>T (p.Arg367Trp) | Inborn genetic diseases [RCV004245984]|not provided [RCV003128918] | uncertain significance | 5 | 127410570 | 127410570 | Human | 1 | name |
| 243050847 | CV2417666 | single nucleotide variant | NM_001256545.2(MEGF10):c.2429G>A (p.Cys810Tyr) | Congenital myopathy 10b, mild variant [RCV003152537] | pathogenic | 5 | 127443064 | 127443064 | Human | 1 | name |
| 243050935 | CV2417669 | single nucleotide variant | NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser) | Congenital myopathy 10b, mild variant [RCV003152540]|MEGF10-related myopathy [RCV003336823] | pathogenic|likely pathogenic | 5 | 127435481 | 127435481 | Human | 2 | name |
| 329385924 | CV2428143 | single nucleotide variant | NM_001256545.2(MEGF10):c.2403A>G (p.Ile801Met) | Inborn genetic diseases [RCV003189481] | uncertain significance | 5 | 127443038 | 127443038 | Human | 1 | name |
| 405017216 | CV2925915 | single nucleotide variant | NM_001256545.2(MEGF10):c.1738A>G (p.Asn580Asp) | MEGF10-related myopathy [RCV003527858] | uncertain significance | 5 | 127433407 | 127433407 | Human | 1 | name , trait |
| 402490567 | CV2984714 | single nucleotide variant | NM_001256545.2(MEGF10):c.1214A>G (p.Tyr405Cys) | MEGF10-related myopathy [RCV003643785] | uncertain significance | 5 | 127417721 | 127417721 | Human | 1 | name , trait |
| 402493875 | CV2993844 | single nucleotide variant | NM_001256545.2(MEGF10):c.1187G>A (p.Cys396Tyr) | MEGF10-related myopathy [RCV003644136] | uncertain significance | 5 | 127417694 | 127417694 | Human | 1 | name , trait |
| 402495194 | CV3007079 | single nucleotide variant | NM_001256545.2(MEGF10):c.2086G>A (p.Gly696Ser) | MEGF10-related myopathy [RCV003644289] | uncertain significance | 5 | 127435471 | 127435471 | Human | 1 | name , trait |
| 405692661 | CV3281800 | single nucleotide variant | NM_001256545.2(MEGF10):c.1388T>C (p.Val463Ala) | Inborn genetic diseases [RCV004423951] | uncertain significance | 5 | 127419202 | 127419202 | Human | 1 | name |
| 405692667 | CV3281801 | single nucleotide variant | NM_001256545.2(MEGF10):c.2144C>T (p.Thr715Met) | Inborn genetic diseases [RCV004423952] | uncertain significance | 5 | 127438478 | 127438478 | Human | 1 | name |
| 405692672 | CV3281802 | single nucleotide variant | NM_001256545.2(MEGF10):c.2801C>A (p.Thr934Asn) | Inborn genetic diseases [RCV004423953] | uncertain significance | 5 | 127447629 | 127447629 | Human | 1 | name |
| 407518035 | CV3449744 | single nucleotide variant | NM_001256545.2(MEGF10):c.1383T>A (p.Asp461Glu) | Inborn genetic diseases [RCV004628728] | uncertain significance | 5 | 127419197 | 127419197 | Human | 1 | name |
| 407502473 | CV3449750 | single nucleotide variant | NM_001256545.2(MEGF10):c.1562G>T (p.Arg521Leu) | Inborn genetic diseases [RCV004645157] | uncertain significance | 5 | 127420179 | 127420179 | Human | 1 | name |
| 596938655 | CV3549707 | single nucleotide variant | NM_001256545.2(MEGF10):c.1573T>C (p.Cys525Arg) | not provided [RCV004812747] | uncertain significance | 5 | 127420190 | 127420190 | Human | | name |
| 597681737 | CV3560293 | single nucleotide variant | NM_001256545.2(MEGF10):c.2279A>G (p.Gln760Arg) | Inborn genetic diseases [RCV004952018] | uncertain significance | 5 | 127440784 | 127440784 | Human | 1 | name |
| 597681742 | CV3560294 | single nucleotide variant | NM_001256545.2(MEGF10):c.1013C>A (p.Ala338Glu) | Inborn genetic diseases [RCV004952019] | uncertain significance | 5 | 127410484 | 127410484 | Human | 1 | name |
| 597681748 | CV3560295 | single nucleotide variant | NM_001256545.2(MEGF10):c.2270T>C (p.Leu757Pro) | Inborn genetic diseases [RCV004952020] | uncertain significance | 5 | 127440775 | 127440775 | Human | 1 | name |
| 597655104 | CV3731453 | single nucleotide variant | NM_001256545.2(MEGF10):c.2911G>T (p.Gly971Cys) | not provided [RCV005001634] | uncertain significance | 5 | 127449153 | 127449153 | Human | | name |
| 597656744 | CV3731606 | single nucleotide variant | NM_001256545.2(MEGF10):c.1638C>G (p.His546Gln) | not provided [RCV005001787] | uncertain significance | 5 | 127422717 | 127422717 | Human | | name |
| 597973997 | CV3801682 | single nucleotide variant | NM_001256545.2(MEGF10):c.1856T>C (p.Phe619Ser) | MEGF10-related myopathy [RCV005143671] | uncertain significance | 5 | 127434702 | 127434702 | Human | 1 | name , trait |
| 597849927 | CV3803171 | single nucleotide variant | NM_001256545.2(MEGF10):c.2476G>A (p.Ala826Thr) | MEGF10-related myopathy [RCV005145288] | uncertain significance | 5 | 127443111 | 127443111 | Human | 1 | name , trait |
| 598225337 | CV3985684 | single nucleotide variant | NM_001256545.2(MEGF10):c.1867C>G (p.Arg623Gly) | Inborn genetic diseases [RCV005380381] | uncertain significance | 5 | 127434713 | 127434713 | Human | 1 | name |
| 598241194 | CV3985685 | single nucleotide variant | NM_001256545.2(MEGF10):c.1066C>T (p.Pro356Ser) | Inborn genetic diseases [RCV005364772] | uncertain significance | 5 | 127410537 | 127410537 | Human | 1 | name |
| 8568701 | CV39918 | single nucleotide variant | NM_001256545.2(MEGF10):c.1559G>A (p.Trp520Ter) | MEGF10-related myopathy [RCV000023951] | pathogenic | 5 | 127420176 | 127420176 | Human | 1 | name , trait |
| 8568702 | CV39919 | single nucleotide variant | NM_001256545.2(MEGF10):c.2301C>A (p.Cys767Ter) | MEGF10-related myopathy [RCV000023952]|not provided [RCV000484880] | pathogenic | 5 | 127440806 | 127440806 | Human | 1 | name |
| 8568705 | CV39922 | single nucleotide variant | NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg) | Congenital myopathy 10b, mild variant [RCV000023956]|MEGF10-related myopathy [RCV000023955]|not provided [RCV003156219] | pathogenic|likely pathogenic | 5 | 127440825 | 127440825 | Human | 2 | name |
| 616933005 | CV4012769 | single nucleotide variant | NM_001256545.2(MEGF10):c.1187G>C (p.Cys396Ser) | not provided [RCV005410231] | uncertain significance | 5 | 127417694 | 127417694 | Human | | name |
| 616933006 | CV4012770 | single nucleotide variant | NM_001256545.2(MEGF10):c.1639G>A (p.Ala547Thr) | Congenital myopathy 10b, mild variant [RCV005410232] | uncertain significance | 5 | 127422718 | 127422718 | Human | 1 | name |
| 21069119 | CV795614 | single nucleotide variant | NM_001256545.2(MEGF10):c.1975G>C (p.Val659Leu) | MEGF10-related myopathy [RCV001040453]|not provided [RCV000998424] | uncertain significance | 5 | 127434821 | 127434821 | Human | 1 | name |
| 26903897 | CV829911 | single nucleotide variant | NM_001256545.2(MEGF10):c.1009G>A (p.Gly337Ser) | Inborn genetic diseases [RCV005367685]|MEGF10-related myopathy [RCV001050577] | uncertain significance | 5 | 127410480 | 127410480 | Human | 2 | name |
| 26890715 | CV829913 | single nucleotide variant | NM_001256545.2(MEGF10):c.1343A>G (p.Tyr448Cys) | MEGF10-related myopathy [RCV001046130] | uncertain significance | 5 | 127419157 | 127419157 | Human | 1 | name , trait |
| 26922186 | CV829914 | single nucleotide variant | NM_001256545.2(MEGF10):c.1598C>T (p.Thr533Met) | MEGF10-related myopathy [RCV001061675] | uncertain significance | 5 | 127422677 | 127422677 | Human | 1 | name , trait |
| 26912453 | CV829915 | single nucleotide variant | NM_001256545.2(MEGF10):c.1727G>T (p.Arg576Leu) | Inborn genetic diseases [RCV004031098]|MEGF10-related myopathy [RCV001039353] | uncertain significance | 5 | 127433396 | 127433396 | Human | 2 | name |
| 26916647 | CV829916 | single nucleotide variant | NM_001256545.2(MEGF10):c.1831T>C (p.Cys611Arg) | MEGF10-related myopathy [RCV001042109] | uncertain significance | 5 | 127433500 | 127433500 | Human | 1 | name , trait |
| 26888008 | CV829917 | single nucleotide variant | NM_001256545.2(MEGF10):c.1880C>T (p.Thr627Ile) | MEGF10-related myopathy [RCV001045105] | uncertain significance | 5 | 127434726 | 127434726 | Human | 1 | name , trait |
| 26885282 | CV829918 | single nucleotide variant | NM_001256545.2(MEGF10):c.1972G>A (p.Glu658Lys) | MEGF10-related myopathy [RCV001065362] | uncertain significance | 5 | 127434818 | 127434818 | Human | 1 | name , trait |
| 26904165 | CV829919 | single nucleotide variant | NM_001256545.2(MEGF10):c.1982C>T (p.Pro661Leu) | MEGF10-related myopathy [RCV001036406] | uncertain significance | 5 | 127435367 | 127435367 | Human | 1 | name , trait |
| 26900085 | CV829920 | single nucleotide variant | NM_001256545.2(MEGF10):c.2051T>C (p.Ile684Thr) | Inborn genetic diseases [RCV004958364]|MEGF10-related myopathy [RCV001035202] | uncertain significance | 5 | 127435436 | 127435436 | Human | 2 | name |
| 26885000 | CV829921 | single nucleotide variant | NM_001256545.2(MEGF10):c.2082G>T (p.Trp694Cys) | MEGF10-related myopathy [RCV001043261] | uncertain significance | 5 | 127435467 | 127435467 | Human | 1 | name , trait |
| 26897662 | CV829922 | single nucleotide variant | NM_001256545.2(MEGF10):c.2211G>C (p.Trp737Cys) | MEGF10-related myopathy [RCV001048647] | uncertain significance | 5 | 127438545 | 127438545 | Human | 1 | name , trait |
| 26886247 | CV829923 | single nucleotide variant | NM_001256545.2(MEGF10):c.2218C>T (p.Leu740Phe) | Inborn genetic diseases [RCV004639438]|MEGF10-related myopathy [RCV001044085] | uncertain significance | 5 | 127438552 | 127438552 | Human | 2 | name |
| 26901159 | CV829924 | single nucleotide variant | NM_001256545.2(MEGF10):c.2431G>A (p.Asp811Asn) | Inborn genetic diseases [RCV004958410]|MEGF10-related myopathy [RCV001049788] | uncertain significance | 5 | 127443066 | 127443066 | Human | 2 | name |
| 26895560 | CV829925 | single nucleotide variant | NM_001256545.2(MEGF10):c.2500A>T (p.Ile834Phe) | Inborn genetic diseases [RCV002554586]|MEGF10-related myopathy [RCV001069677] | uncertain significance | 5 | 127445465 | 127445465 | Human | 2 | name |
| 26900932 | CV829926 | single nucleotide variant | NM_001256545.2(MEGF10):c.2704G>T (p.Val902Phe) | MEGF10-related myopathy [RCV001071433] | uncertain significance | 5 | 127445669 | 127445669 | Human | 1 | name , trait |
| 26916559 | CV829927 | single nucleotide variant | NM_001256545.2(MEGF10):c.2789A>G (p.Tyr930Cys) | MEGF10-related myopathy [RCV001056427]|MEGF10-related myopathy [RCV005394695] | uncertain significance | 5 | 127447617 | 127447617 | Human | 1 | name , trait |
| 28892137 | CV892759 | single nucleotide variant | NM_001256545.2(MEGF10):c.1081G>A (p.Gly361Ser) | MEGF10-related myopathy [RCV001153056] | uncertain significance | 5 | 127410552 | 127410552 | Human | 1 | name , trait |
| 28892141 | CV892760 | single nucleotide variant | NM_001256545.2(MEGF10):c.1112A>C (p.His371Pro) | MEGF10-related myopathy [RCV001153057] | uncertain significance | 5 | 127410583 | 127410583 | Human | 1 | name , trait |
| 28899039 | CV892761 | single nucleotide variant | NM_001256545.2(MEGF10):c.1433A>T (p.His478Leu) | MEGF10-related myopathy [RCV001155676] | uncertain significance | 5 | 127420050 | 127420050 | Human | 1 | name , trait |
| 28902982 | CV892762 | single nucleotide variant | NM_001256545.2(MEGF10):c.1517C>G (p.Ala506Gly) | MEGF10-related myopathy [RCV001157359] | uncertain significance | 5 | 127420134 | 127420134 | Human | 1 | name , trait |
| 28902985 | CV892763 | single nucleotide variant | NM_001256545.2(MEGF10):c.1682C>T (p.Pro561Leu) | MEGF10-related myopathy [RCV001157360] | uncertain significance | 5 | 127422761 | 127422761 | Human | 1 | name , trait |
| 28888889 | CV892764 | single nucleotide variant | NM_001256545.2(MEGF10):c.1727G>A (p.Arg576His) | MEGF10-related myopathy [RCV001151908] | uncertain significance | 5 | 127433396 | 127433396 | Human | 1 | name , trait |
| 28888892 | CV892765 | single nucleotide variant | NM_001256545.2(MEGF10):c.1750C>A (p.Pro584Thr) | MEGF10-related myopathy [RCV001151909] | uncertain significance | 5 | 127433419 | 127433419 | Human | 1 | name , trait |
| 28892418 | CV892767 | single nucleotide variant | NM_001256545.2(MEGF10):c.1906G>A (p.Gly636Arg) | MEGF10-related myopathy [RCV001153163] | uncertain significance | 5 | 127434752 | 127434752 | Human | 1 | name , trait |
| 28899287 | CV892768 | single nucleotide variant | NM_001256545.2(MEGF10):c.2364G>C (p.Lys788Asn) | MEGF10-related myopathy [RCV001155769] | uncertain significance | 5 | 127442999 | 127442999 | Human | 1 | name , trait |
| 38476447 | CV923742 | single nucleotide variant | NM_001256545.2(MEGF10):c.1576G>A (p.Glu526Lys) | MEGF10-related myopathy [RCV001215649] | uncertain significance | 5 | 127420193 | 127420193 | Human | 1 | name , trait |
| 38481621 | CV923743 | single nucleotide variant | NM_001256545.2(MEGF10):c.2033A>C (p.Asn678Thr) | MEGF10-related myopathy [RCV001218099] | uncertain significance | 5 | 127435418 | 127435418 | Human | 1 | name , trait |
| 38489382 | CV923744 | single nucleotide variant | NM_001256545.2(MEGF10):c.2065C>A (p.Gln689Lys) | MEGF10-related myopathy [RCV001221537] | uncertain significance | 5 | 127435450 | 127435450 | Human | 1 | name , trait |
| 38493355 | CV923745 | single nucleotide variant | NM_001256545.2(MEGF10):c.2530C>T (p.Arg844Ter) | MEGF10-related myopathy [RCV001224186] | pathogenic | 5 | 127445495 | 127445495 | Human | 1 | name , trait |
| 38485004 | CV923746 | single nucleotide variant | NM_001256545.2(MEGF10):c.2795C>T (p.Thr932Met) | Inborn genetic diseases [RCV002562482]|MEGF10-related myopathy [RCV001219680]|not provided [RCV003486967] | uncertain significance | 5 | 127447623 | 127447623 | Human | 2 | name |
| 38481000 | CV923747 | single nucleotide variant | NM_001256545.2(MEGF10):c.2900C>T (p.Pro967Leu) | MEGF10-related myopathy [RCV001217798] | uncertain significance | 5 | 127449142 | 127449142 | Human | 1 | name , trait |
| 38469397 | CV932598 | single nucleotide variant | NM_001256545.2(MEGF10):c.1597A>G (p.Thr533Ala) | Inborn genetic diseases [RCV004033531]|MEGF10-related myopathy [RCV001202236] | uncertain significance | 5 | 127422676 | 127422676 | Human | 2 | name |
| 38474800 | CV932599 | single nucleotide variant | NM_001256545.2(MEGF10):c.1615G>A (p.Ala539Thr) | MEGF10-related myopathy [RCV001203971] | uncertain significance | 5 | 127422694 | 127422694 | Human | 1 | name , trait |
| 38486957 | CV932600 | single nucleotide variant | NM_001256545.2(MEGF10):c.1833T>G (p.Cys611Trp) | MEGF10-related myopathy [RCV001209121]|not provided [RCV003480992] | uncertain significance | 5 | 127433502 | 127433502 | Human | 1 | name |
| 38483350 | CV932601 | single nucleotide variant | NM_001256545.2(MEGF10):c.1927G>A (p.Gly643Ser) | MEGF10-related myopathy [RCV001207610] | uncertain significance | 5 | 127434773 | 127434773 | Human | 1 | name , trait |
| 38472522 | CV932602 | single nucleotide variant | NM_001256545.2(MEGF10):c.2333C>G (p.Thr778Ser) | MEGF10-related myopathy [RCV001214110] | uncertain significance | 5 | 127440838 | 127440838 | Human | 1 | name , trait |
| 38464256 | CV932603 | single nucleotide variant | NM_001256545.2(MEGF10):c.2636A>G (p.Tyr879Cys) | MEGF10-related myopathy [RCV001201538] | uncertain significance | 5 | 127445601 | 127445601 | Human | 1 | name , trait |
| 38483442 | CV932604 | single nucleotide variant | NM_001256545.2(MEGF10):c.2831A>G (p.Asn944Ser) | Inborn genetic diseases [RCV005367759]|MEGF10-related myopathy [RCV001207651] | uncertain significance | 5 | 127447659 | 127447659 | Human | 2 | name |
| 38483539 | CV944276 | single nucleotide variant | NM_001256545.2(MEGF10):c.1534G>A (p.Gly512Arg) | MEGF10-related myopathy [RCV001235968] | uncertain significance | 5 | 127420151 | 127420151 | Human | 1 | name , trait |
| 38498735 | CV944277 | single nucleotide variant | NM_001256545.2(MEGF10):c.1598C>A (p.Thr533Lys) | MEGF10-related myopathy [RCV001227941] | uncertain significance | 5 | 127422677 | 127422677 | Human | 1 | name , trait |
| 38498689 | CV944278 | single nucleotide variant | NM_001256545.2(MEGF10):c.1622G>A (p.Arg541His) | Inborn genetic diseases [RCV002563124]|MEGF10-related myopathy [RCV001227907] | uncertain significance | 5 | 127422701 | 127422701 | Human | 2 | name |
| 38486383 | CV944279 | single nucleotide variant | NM_001256545.2(MEGF10):c.1661C>T (p.Thr554Met) | MEGF10-related myopathy [RCV001237184] | uncertain significance | 5 | 127422740 | 127422740 | Human | 1 | name , trait |
| 38497050 | CV944280 | single nucleotide variant | NM_001256545.2(MEGF10):c.1709G>A (p.Ser570Asn) | MEGF10-related myopathy [RCV001226800] | uncertain significance | 5 | 127433378 | 127433378 | Human | 1 | name , trait |
| 38483219 | CV944281 | single nucleotide variant | NM_001256545.2(MEGF10):c.2021C>T (p.Thr674Ile) | Inborn genetic diseases [RCV003284096]|MEGF10-related myopathy [RCV001235834] | uncertain significance | 5 | 127435406 | 127435406 | Human | 2 | name |
| 38460719 | CV953934 | single nucleotide variant | NM_001256545.2(MEGF10):c.1036G>A (p.Ala346Thr) | MEGF10-related myopathy [RCV001246795] | uncertain significance | 5 | 127410507 | 127410507 | Human | 1 | name , trait |
| 38456847 | CV953935 | single nucleotide variant | NM_001256545.2(MEGF10):c.1402G>T (p.Asp468Tyr) | MEGF10-related myopathy [RCV001245912] | uncertain significance | 5 | 127419216 | 127419216 | Human | 1 | name , trait |
| 11593955 | CV295155 | single nucleotide variant | NM_001256545.2(MEGF10):c.2654G>A (p.Gly885Glu) | MEGF10-related disorder [RCV003950239]|MEGF10-related myopathy [RCV000353724]|not provided [RCV001718752] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127445619 | 127445619 | Human | 1 | trait , alternate_id |
| 11596922 | CV300753 | single nucleotide variant | NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu) | MEGF10-related disorder [RCV003970013]|MEGF10-related myopathy [RCV000388122]|not provided [RCV000835230] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127422752 | 127422752 | Human | 1 | trait , alternate_id |
| 11596393 | CV300784 | single nucleotide variant | NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser) | MEGF10-related disorder [RCV003950240]|MEGF10-related myopathy [RCV000381961] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 127455591 | 127455591 | Human | 1 | trait , alternate_id |
| 13481966 | CV454340 | single nucleotide variant | NM_001256545.2(MEGF10):c.2144C>A (p.Thr715Lys) | Inborn genetic diseases [RCV004024211]|MEGF10-related disorder [RCV003905431]|MEGF10-related myopathy [RCV001088734]|not provided [RCV000839173] | likely benign|uncertain significance | 5 | 127438478 | 127438478 | Human | 2 | trait , alternate_id |
| 15147769 | CV691669 | single nucleotide variant | NM_001256545.2(MEGF10):c.3354C>G (p.Asp1118Glu) | MEGF10-related disorder [RCV003955780]|MEGF10-related myopathy [RCV000878823] | benign|likely benign | 5 | 127457249 | 127457249 | Human | 1 | trait , alternate_id |
| 126756111 | CV1005723 | single nucleotide variant | NM_001256545.2(MEGF10):c.1136A>T (p.His379Leu) | MEGF10-related myopathy [RCV001327904] | uncertain significance | 5 | 127417643 | 127417643 | Human | 1 | trait |
| 126755631 | CV1005725 | single nucleotide variant | NM_001256545.2(MEGF10):c.1168G>T (p.Gly390Cys) | MEGF10-related myopathy [RCV001316986] | uncertain significance | 5 | 127417675 | 127417675 | Human | 1 | trait |
| 126764239 | CV1005726 | single nucleotide variant | NM_001256545.2(MEGF10):c.1300T>G (p.Phe434Val) | MEGF10-related myopathy [RCV001319562] | uncertain significance | 5 | 127417807 | 127417807 | Human | 1 | trait |
| 126773304 | CV1005728 | single nucleotide variant | NM_001256545.2(MEGF10):c.1849C>T (p.Pro617Ser) | MEGF10-related myopathy [RCV001324255] | uncertain significance | 5 | 127434695 | 127434695 | Human | 1 | trait |
| 126766652 | CV1005729 | single nucleotide variant | NM_001256545.2(MEGF10):c.2110C>T (p.Pro704Ser) | MEGF10-related myopathy [RCV001320531] | uncertain significance | 5 | 127438444 | 127438444 | Human | 1 | trait |
| 126737359 | CV1005730 | single nucleotide variant | NM_001256545.2(MEGF10):c.3405C>A (p.Ser1135Arg) | MEGF10-related myopathy [RCV001313972] | uncertain significance | 5 | 127457300 | 127457300 | Human | 1 | trait |
| 126757199 | CV1026243 | single nucleotide variant | NM_001256545.2(MEGF10):c.1302C>G (p.Phe434Leu) | MEGF10-related myopathy [RCV001339500] | uncertain significance | 5 | 127417809 | 127417809 | Human | 1 | trait |
| 126727172 | CV1026245 | single nucleotide variant | NM_001256545.2(MEGF10):c.1867C>T (p.Arg623Cys) | MEGF10-related myopathy [RCV001348641] | uncertain significance | 5 | 127434713 | 127434713 | Human | 1 | trait |
| 126760780 | CV1026247 | single nucleotide variant | NM_001256545.2(MEGF10):c.2227A>G (p.Thr743Ala) | MEGF10-related myopathy [RCV001340504] | uncertain significance | 5 | 127438561 | 127438561 | Human | 1 | trait |
| 126774020 | CV1026248 | single nucleotide variant | NM_001256545.2(MEGF10):c.2281T>C (p.Cys761Arg) | MEGF10-related myopathy [RCV001346747] | uncertain significance | 5 | 127440786 | 127440786 | Human | 1 | trait |
| 126761161 | CV1026249 | single nucleotide variant | NM_001256545.2(MEGF10):c.2882A>G (p.Asn961Ser) | MEGF10-related myopathy [RCV001340610] | uncertain significance | 5 | 127449124 | 127449124 | Human | 1 | trait |
| 126918191 | CV1043210 | single nucleotide variant | NM_001256545.2(MEGF10):c.1460C>G (p.Pro487Arg) | MEGF10-related myopathy [RCV001361584] | uncertain significance | 5 | 127420077 | 127420077 | Human | 1 | trait |
| 126924146 | CV1043213 | single nucleotide variant | NM_001256545.2(MEGF10):c.1711G>A (p.Val571Met) | MEGF10-related myopathy [RCV001366687] | uncertain significance | 5 | 127433380 | 127433380 | Human | 1 | trait |
| 126923778 | CV1043214 | single nucleotide variant | NM_001256545.2(MEGF10):c.1910C>A (p.Pro637His) | MEGF10-related myopathy [RCV001366237] | uncertain significance | 5 | 127434756 | 127434756 | Human | 1 | trait |
| 126918963 | CV1043216 | single nucleotide variant | NM_001256545.2(MEGF10):c.2497G>A (p.Val833Ile) | MEGF10-related myopathy [RCV001372964] | uncertain significance | 5 | 127445462 | 127445462 | Human | 1 | trait |
| 126915214 | CV1043217 | single nucleotide variant | NM_001256545.2(MEGF10):c.2758G>A (p.Ala920Thr) | MEGF10-related myopathy [RCV001370782] | uncertain significance | 5 | 127447586 | 127447586 | Human | 1 | trait |
| 126922758 | CV1043219 | single nucleotide variant | NM_001256545.2(MEGF10):c.2870A>G (p.Gln957Arg) | MEGF10-related myopathy [RCV001365047] | uncertain significance | 5 | 127449112 | 127449112 | Human | 1 | trait |
| 126909375 | CV1043220 | single nucleotide variant | NM_001256545.2(MEGF10):c.2972A>G (p.Asn991Ser) | MEGF10-related myopathy [RCV001368449] | uncertain significance | 5 | 127449214 | 127449214 | Human | 1 | trait |
| 126920275 | CV1043221 | single nucleotide variant | NM_001256545.2(MEGF10):c.3277C>T (p.Arg1093Cys) | MEGF10-related myopathy [RCV001362779] | uncertain significance | 5 | 127457172 | 127457172 | Human | 1 | trait |
| 127256796 | CV1060203 | single nucleotide variant | NM_001256545.2(MEGF10):c.3169A>T (p.Arg1057Ter) | MEGF10-related myopathy [RCV001386616] | pathogenic | 5 | 127455544 | 127455544 | Human | 1 | trait |
| 150516223 | CV1287261 | single nucleotide variant | NM_001256545.2(MEGF10):c.2873T>G (p.Leu958Arg) | MEGF10-related myopathy [RCV001723253] | uncertain significance | 5 | 127449115 | 127449115 | Human | 1 | trait |
| 151891051 | CV1344554 | deletion | NC_000005.9:g.(?_126783229)_(126784934_?)del | MEGF10-related myopathy [RCV001943225] | uncertain significance | | | | Human | 1 | trait |
| 151722320 | CV1346377 | single nucleotide variant | NM_001256545.2(MEGF10):c.1204C>G (p.Pro402Ala) | MEGF10-related myopathy [RCV001966155] | uncertain significance | 5 | 127417711 | 127417711 | Human | 1 | trait |
| 151831832 | CV1356010 | single nucleotide variant | NM_001256545.2(MEGF10):c.2920G>A (p.Gly974Arg) | MEGF10-related myopathy [RCV002030876] | uncertain significance | 5 | 127449162 | 127449162 | Human | 1 | trait |
| 151759120 | CV1361682 | single nucleotide variant | NM_001256545.2(MEGF10):c.1316G>A (p.Cys439Tyr) | MEGF10-related myopathy [RCV001928301] | uncertain significance | 5 | 127419130 | 127419130 | Human | 1 | trait |
| 151753110 | CV1363750 | single nucleotide variant | NM_001256545.2(MEGF10):c.2000A>G (p.Lys667Arg) | MEGF10-related myopathy [RCV001872465] | uncertain significance | 5 | 127435385 | 127435385 | Human | 1 | trait |
| 151768674 | CV1367511 | single nucleotide variant | NM_001256545.2(MEGF10):c.2629A>G (p.Ile877Val) | MEGF10-related myopathy [RCV001863865] | uncertain significance | 5 | 127445594 | 127445594 | Human | 1 | trait |
| 151862847 | CV1368176 | single nucleotide variant | NM_001256545.2(MEGF10):c.2566A>T (p.Ile856Phe) | MEGF10-related myopathy [RCV001905520] | uncertain significance | 5 | 127445531 | 127445531 | Human | 1 | trait |
| 151858095 | CV1377535 | single nucleotide variant | NM_001256545.2(MEGF10):c.2968C>T (p.Leu990Phe) | MEGF10-related myopathy [RCV001938198] | uncertain significance | 5 | 127449210 | 127449210 | Human | 1 | trait |
| 151777406 | CV1381933 | single nucleotide variant | NM_001256545.2(MEGF10):c.1042G>A (p.Glu348Lys) | MEGF10-related myopathy [RCV001950741] | uncertain significance | 5 | 127410513 | 127410513 | Human | 1 | trait |
| 151839548 | CV1382917 | single nucleotide variant | NM_001256545.2(MEGF10):c.2687C>T (p.Thr896Ile) | MEGF10-related myopathy [RCV002031655] | uncertain significance | 5 | 127445652 | 127445652 | Human | 1 | trait |
| 151741046 | CV1386594 | single nucleotide variant | NM_001256545.2(MEGF10):c.1820G>A (p.Arg607Gln) | MEGF10-related myopathy [RCV001893273] | uncertain significance | 5 | 127433489 | 127433489 | Human | 1 | trait |
| 151851116 | CV1391661 | single nucleotide variant | NM_001256545.2(MEGF10):c.3421T>A (p.Ter1141Arg) | MEGF10-related myopathy [RCV002033187] | uncertain significance | 5 | 127457316 | 127457316 | Human | 1 | trait |
| 151851325 | CV1391806 | single nucleotide variant | NM_001256545.2(MEGF10):c.3239C>G (p.Thr1080Arg) | MEGF10-related myopathy [RCV002033215] | uncertain significance | 5 | 127457134 | 127457134 | Human | 1 | trait |
| 151743453 | CV1406744 | single nucleotide variant | NM_001256545.2(MEGF10):c.1199G>A (p.Cys400Tyr) | MEGF10-related myopathy [RCV002006048] | uncertain significance | 5 | 127417706 | 127417706 | Human | 1 | trait |
| 151768215 | CV1410445 | single nucleotide variant | NM_001256545.2(MEGF10):c.1562G>A (p.Arg521His) | MEGF10-related myopathy [RCV001987988] | uncertain significance | 5 | 127420179 | 127420179 | Human | 1 | trait |
| 151812296 | CV1417582 | single nucleotide variant | NM_001256545.2(MEGF10):c.1960G>A (p.Ala654Thr) | MEGF10-related myopathy [RCV002029089] | uncertain significance | 5 | 127434806 | 127434806 | Human | 1 | trait |
| 151772197 | CV1417939 | single nucleotide variant | NM_001256545.2(MEGF10):c.1057C>T (p.Arg353Cys) | MEGF10-related myopathy [RCV001874563] | uncertain significance | 5 | 127410528 | 127410528 | Human | 1 | trait |
| 151885735 | CV1418153 | single nucleotide variant | NM_001256545.2(MEGF10):c.2930C>T (p.Thr977Ile) | MEGF10-related myopathy [RCV001887416] | uncertain significance | 5 | 127449172 | 127449172 | Human | 1 | trait |
| 151815934 | CV1427125 | single nucleotide variant | NM_001256545.2(MEGF10):c.2179T>C (p.Tyr727His) | MEGF10-related myopathy [RCV001878738] | uncertain significance | 5 | 127438513 | 127438513 | Human | 1 | trait |
| 151758090 | CV1443607 | single nucleotide variant | NM_001256545.2(MEGF10):c.1540T>A (p.Cys514Ser) | MEGF10-related myopathy [RCV001872928] | uncertain significance | 5 | 127420157 | 127420157 | Human | 1 | trait |
| 151779823 | CV1446187 | single nucleotide variant | NM_001256545.2(MEGF10):c.1533C>G (p.Asp511Glu) | MEGF10-related myopathy [RCV001989029] | uncertain significance | 5 | 127420150 | 127420150 | Human | 1 | trait |
| 151750348 | CV1457194 | single nucleotide variant | NM_001256545.2(MEGF10):c.3094A>G (p.Thr1032Ala) | MEGF10-related myopathy [RCV001912921] | uncertain significance | 5 | 127455469 | 127455469 | Human | 1 | trait |
| 151876328 | CV1458620 | single nucleotide variant | NM_001256545.2(MEGF10):c.3396C>G (p.Ser1132Arg) | MEGF10-related myopathy [RCV001998981] | uncertain significance | 5 | 127457291 | 127457291 | Human | 1 | trait |
| 151876636 | CV1460067 | single nucleotide variant | NM_001256545.2(MEGF10):c.3003C>G (p.Ser1001Arg) | MEGF10-related myopathy [RCV002036335] | uncertain significance | 5 | 127454588 | 127454588 | Human | 1 | trait |
| 151847160 | CV1461656 | duplication | NC_000005.9:g.(?_126769035)_(126778838_?)dup | MEGF10-related myopathy [RCV001936862] | uncertain significance | | | | Human | 1 | trait |
| 151736659 | CV1461862 | single nucleotide variant | NM_001256545.2(MEGF10):c.1684G>A (p.Gly562Arg) | MEGF10-related myopathy [RCV001967701] | uncertain significance | 5 | 127422763 | 127422763 | Human | 1 | trait |
| 151836684 | CV1466453 | single nucleotide variant | NM_001256545.2(MEGF10):c.1685G>A (p.Gly562Glu) | MEGF10-related myopathy [RCV001902370] | uncertain significance | 5 | 127422764 | 127422764 | Human | 1 | trait |
| 151786280 | CV1477914 | deletion | NM_001256545.2(MEGF10):c.3094del (p.Thr1032fs) | MEGF10-related myopathy [RCV001972577] | pathogenic | 5 | 127455469 | 127455469 | Human | 1 | trait |
| 151748776 | CV1478906 | single nucleotide variant | NM_001256545.2(MEGF10):c.1553C>G (p.Pro518Arg) | MEGF10-related myopathy [RCV002023148] | uncertain significance | 5 | 127420170 | 127420170 | Human | 1 | trait |
| 151833527 | CV1479008 | single nucleotide variant | NM_001256545.2(MEGF10):c.2341A>G (p.Met781Val) | MEGF10-related myopathy [RCV002050957] | uncertain significance | 5 | 127440846 | 127440846 | Human | 1 | trait |
| 151770790 | CV1481803 | single nucleotide variant | NM_001256545.2(MEGF10):c.3179C>T (p.Pro1060Leu) | MEGF10-related myopathy [RCV002008822] | uncertain significance | 5 | 127455554 | 127455554 | Human | 1 | trait |
| 151816408 | CV1482514 | deletion | NM_001256545.2(MEGF10):c.1518_1528del (p.Cys507fs) | MEGF10-related myopathy [RCV002049356] | pathogenic | 5 | 127420134 | 127420144 | Human | 1 | trait |
| 151770917 | CV1483286 | single nucleotide variant | NM_001256545.2(MEGF10):c.1907G>A (p.Gly636Glu) | MEGF10-related myopathy [RCV001914967] | uncertain significance | 5 | 127434753 | 127434753 | Human | 1 | trait |
| 151730497 | CV1489477 | single nucleotide variant | NM_001256545.2(MEGF10):c.1391G>A (p.Cys464Tyr) | MEGF10-related myopathy [RCV001910821] | uncertain significance | 5 | 127419205 | 127419205 | Human | 1 | trait |
| 151791514 | CV1489988 | single nucleotide variant | NM_001256545.2(MEGF10):c.3182A>G (p.Tyr1061Cys) | MEGF10-related myopathy [RCV001952094] | uncertain significance | 5 | 127455557 | 127455557 | Human | 1 | trait |
| 151879077 | CV1490769 | single nucleotide variant | NM_001256545.2(MEGF10):c.2579C>T (p.Ala860Val) | MEGF10-related myopathy [RCV001940766] | uncertain significance | 5 | 127445544 | 127445544 | Human | 1 | trait |
| 151864855 | CV1494964 | single nucleotide variant | NM_001256545.2(MEGF10):c.2410T>A (p.Cys804Ser) | MEGF10-related myopathy [RCV001980589] | uncertain significance | 5 | 127443045 | 127443045 | Human | 1 | trait |
| 151727595 | CV1495339 | single nucleotide variant | NM_001256545.2(MEGF10):c.2027C>T (p.Thr676Ile) | MEGF10-related myopathy [RCV002040873] | uncertain significance | 5 | 127435412 | 127435412 | Human | 1 | trait |
| 151837089 | CV1501095 | single nucleotide variant | NM_001256545.2(MEGF10):c.1465G>A (p.Gly489Ser) | MEGF10-related myopathy [RCV001977259] | uncertain significance | 5 | 127420082 | 127420082 | Human | 1 | trait |
| 151745272 | CV1502487 | single nucleotide variant | NM_001256545.2(MEGF10):c.2749G>C (p.Gly917Arg) | MEGF10-related myopathy [RCV001912345] | uncertain significance | 5 | 127447577 | 127447577 | Human | 1 | trait |
| 151770627 | CV1502504 | single nucleotide variant | NM_001256545.2(MEGF10):c.2174G>A (p.Ser725Asn) | MEGF10-related myopathy [RCV001896303] | uncertain significance | 5 | 127438508 | 127438508 | Human | 1 | trait |
| 151727847 | CV1505159 | single nucleotide variant | NM_001256545.2(MEGF10):c.1207G>A (p.Gly403Arg) | MEGF10-related myopathy [RCV002020989] | uncertain significance | 5 | 127417714 | 127417714 | Human | 1 | trait |
| 151723983 | CV1507814 | single nucleotide variant | NM_001256545.2(MEGF10):c.2989G>A (p.Gly997Arg) | MEGF10-related myopathy [RCV001983451] | uncertain significance | 5 | 127454574 | 127454574 | Human | 1 | trait |
| 151828302 | CV1510110 | single nucleotide variant | NM_001256545.2(MEGF10):c.1921A>T (p.Ile641Phe) | MEGF10-related myopathy [RCV001920239] | uncertain significance | 5 | 127434767 | 127434767 | Human | 1 | trait |
| 155642608 | CV1707511 | single nucleotide variant | NM_001256545.2(MEGF10):c.2230C>T (p.Gln744Ter) | MEGF10-related myopathy [RCV002288441] | likely pathogenic | 5 | 127438564 | 127438564 | Human | 1 | trait |
| 155707247 | CV1778411 | single nucleotide variant | NM_001256545.2(MEGF10):c.3266G>A (p.Ser1089Asn) | MEGF10-related myopathy [RCV002296020] | uncertain significance | 5 | 127457161 | 127457161 | Human | 1 | trait |
| 156407079 | CV1874806 | single nucleotide variant | NM_001256545.2(MEGF10):c.3244A>C (p.Ser1082Arg) | MEGF10-related myopathy [RCV003070721] | uncertain significance | 5 | 127457139 | 127457139 | Human | 1 | trait |
| 156409118 | CV1877565 | single nucleotide variant | NM_001256545.2(MEGF10):c.3322C>T (p.Pro1108Ser) | MEGF10-related myopathy [RCV003071536] | uncertain significance | 5 | 127457217 | 127457217 | Human | 1 | trait |
| 155967764 | CV1888615 | single nucleotide variant | NM_001256545.2(MEGF10):c.2323A>G (p.Thr775Ala) | MEGF10-related myopathy [RCV003075024] | uncertain significance | 5 | 127440828 | 127440828 | Human | 1 | trait |
| 155970053 | CV1888916 | single nucleotide variant | NM_001256545.2(MEGF10):c.3374A>G (p.Gln1125Arg) | MEGF10-related myopathy [RCV003075134] | uncertain significance | 5 | 127457269 | 127457269 | Human | 1 | trait |
| 156411869 | CV1894036 | single nucleotide variant | NM_001256545.2(MEGF10):c.3161C>T (p.Pro1054Leu) | MEGF10-related myopathy [RCV003072660] | uncertain significance | 5 | 127455536 | 127455536 | Human | 1 | trait |
| 156356744 | CV1901140 | single nucleotide variant | NM_001256545.2(MEGF10):c.2632A>G (p.Ile878Val) | MEGF10-related myopathy [RCV002602219] | uncertain significance | 5 | 127445597 | 127445597 | Human | 1 | trait |
| 156370675 | CV1905308 | single nucleotide variant | NM_001256545.2(MEGF10):c.3392G>C (p.Ser1131Thr) | MEGF10-related myopathy [RCV003092399] | uncertain significance | 5 | 127457287 | 127457287 | Human | 1 | trait |
| 155941118 | CV1910080 | single nucleotide variant | NM_001256545.2(MEGF10):c.1958G>A (p.Gly653Asp) | MEGF10-related myopathy [RCV002615641] | uncertain significance | 5 | 127434804 | 127434804 | Human | 1 | trait |
| 156284272 | CV1929645 | single nucleotide variant | NM_001256545.2(MEGF10):c.1846T>A (p.Ser616Thr) | MEGF10-related myopathy [RCV002628548] | uncertain significance | 5 | 127434692 | 127434692 | Human | 1 | trait |
| 156036904 | CV1932815 | single nucleotide variant | NM_001256545.2(MEGF10):c.3245G>C (p.Ser1082Thr) | MEGF10-related myopathy [RCV002637412] | uncertain significance | 5 | 127457140 | 127457140 | Human | 1 | trait |
| 156272997 | CV2004247 | single nucleotide variant | NM_001256545.2(MEGF10):c.2785A>G (p.Ser929Gly) | MEGF10-related myopathy [RCV002646594] | uncertain significance | 5 | 127447613 | 127447613 | Human | 1 | trait |
| 156098863 | CV2007605 | single nucleotide variant | NM_001256545.2(MEGF10):c.1771G>A (p.Ala591Thr) | MEGF10-related myopathy [RCV002695227] | uncertain significance | 5 | 127433440 | 127433440 | Human | 1 | trait |
| 156158245 | CV2009316 | single nucleotide variant | NM_001256545.2(MEGF10):c.1552C>T (p.Pro518Ser) | MEGF10-related myopathy [RCV002710073] | uncertain significance | 5 | 127420169 | 127420169 | Human | 1 | trait |
| 155923035 | CV2024050 | single nucleotide variant | NM_001256545.2(MEGF10):c.2812A>G (p.Thr938Ala) | MEGF10-related myopathy [RCV002750804] | uncertain significance | 5 | 127447640 | 127447640 | Human | 1 | trait |
| 155942803 | CV2032402 | single nucleotide variant | NM_001256545.2(MEGF10):c.1169G>C (p.Gly390Ala) | MEGF10-related myopathy [RCV002730227] | uncertain significance | 5 | 127417676 | 127417676 | Human | 1 | trait |
| 155915594 | CV2033438 | single nucleotide variant | NM_001256545.2(MEGF10):c.2031C>A (p.Asn677Lys) | MEGF10-related myopathy [RCV002750448] | uncertain significance | 5 | 127435416 | 127435416 | Human | 1 | trait |
| 156221960 | CV2037734 | single nucleotide variant | NM_001256545.2(MEGF10):c.2341A>T (p.Met781Leu) | MEGF10-related myopathy [RCV002790659] | uncertain significance | 5 | 127440846 | 127440846 | Human | 1 | trait |
| 156247265 | CV2044784 | single nucleotide variant | NM_001256545.2(MEGF10):c.2747A>G (p.Asn916Ser) | MEGF10-related myopathy [RCV002805885] | uncertain significance | 5 | 127447575 | 127447575 | Human | 1 | trait |
| 156198305 | CV2066696 | single nucleotide variant | NM_001256545.2(MEGF10):c.3151A>G (p.Met1051Val) | MEGF10-related myopathy [RCV002828847] | uncertain significance | 5 | 127455526 | 127455526 | Human | 1 | trait |
| 156152103 | CV2070386 | single nucleotide variant | NM_001256545.2(MEGF10):c.1533C>A (p.Asp511Glu) | MEGF10-related myopathy [RCV002850904] | uncertain significance | 5 | 127420150 | 127420150 | Human | 1 | trait |
| 155998305 | CV2092047 | single nucleotide variant | NM_001256545.2(MEGF10):c.1999A>G (p.Lys667Glu) | MEGF10-related myopathy [RCV002908498] | uncertain significance | 5 | 127435384 | 127435384 | Human | 1 | trait |
| 156161499 | CV2095245 | single nucleotide variant | NM_001256545.2(MEGF10):c.2838C>A (p.Asp946Glu) | MEGF10-related myopathy [RCV002891014] | uncertain significance | 5 | 127447666 | 127447666 | Human | 1 | trait |
| 156337655 | CV2096011 | single nucleotide variant | NM_001256545.2(MEGF10):c.2821C>T (p.His941Tyr) | MEGF10-related myopathy [RCV002900297] | uncertain significance | 5 | 127447649 | 127447649 | Human | 1 | trait |
| 156364114 | CV2130461 | single nucleotide variant | NM_001256545.2(MEGF10):c.2582G>A (p.Gly861Asp) | MEGF10-related myopathy [RCV002967172] | uncertain significance | 5 | 127445547 | 127445547 | Human | 1 | trait |
| 156099868 | CV2132497 | single nucleotide variant | NM_001256545.2(MEGF10):c.1792G>C (p.Gly598Arg) | MEGF10-related myopathy [RCV002979942] | uncertain significance | 5 | 127433461 | 127433461 | Human | 1 | trait |
| 156319608 | CV2151439 | single nucleotide variant | NM_001256545.2(MEGF10):c.2677G>A (p.Val893Ile) | MEGF10-related myopathy [RCV003011603] | uncertain significance | 5 | 127445642 | 127445642 | Human | 1 | trait |
| 156292621 | CV2166251 | single nucleotide variant | NM_001256545.2(MEGF10):c.1774T>A (p.Ser592Thr) | MEGF10-related myopathy [RCV003045204] | uncertain significance | 5 | 127433443 | 127433443 | Human | 1 | trait |
| 156302230 | CV2166532 | single nucleotide variant | NM_001256545.2(MEGF10):c.1124C>T (p.Thr375Ile) | MEGF10-related myopathy [RCV003045607] | uncertain significance | 5 | 127410595 | 127410595 | Human | 1 | trait |
| 156194814 | CV2171460 | single nucleotide variant | NM_001256545.2(MEGF10):c.3172G>A (p.Asp1058Asn) | MEGF10-related myopathy [RCV003024250] | uncertain significance | 5 | 127455547 | 127455547 | Human | 1 | trait |
| 156174013 | CV2181337 | single nucleotide variant | NM_001256545.2(MEGF10):c.1369G>A (p.Gly457Ser) | MEGF10-related myopathy [RCV003057310] | uncertain significance | 5 | 127419183 | 127419183 | Human | 1 | trait |
| 156327506 | CV2184499 | single nucleotide variant | NM_001256545.2(MEGF10):c.1444T>C (p.Cys482Arg) | MEGF10-related myopathy [RCV003047016] | uncertain significance | 5 | 127420061 | 127420061 | Human | 1 | trait |
| 156363911 | CV2186925 | single nucleotide variant | NM_001256545.2(MEGF10):c.2841G>C (p.Arg947Ser) | MEGF10-related myopathy [RCV003065821] | uncertain significance | 5 | 127447669 | 127447669 | Human | 1 | trait |
| 156245719 | CV2187391 | single nucleotide variant | NM_001256545.2(MEGF10):c.3034A>G (p.Lys1012Glu) | MEGF10-related myopathy [RCV003059822] | uncertain significance | 5 | 127455409 | 127455409 | Human | 1 | trait |
| 156348267 | CV2191439 | single nucleotide variant | NM_001256545.2(MEGF10):c.2674G>A (p.Ala892Thr) | MEGF10-related myopathy [RCV003048138] | uncertain significance | 5 | 127445639 | 127445639 | Human | 1 | trait |
| 243050844 | CV2417664 | deletion | NM_001256545.2(MEGF10):c.413_659del247 (p.Cys139fs) | MEGF10-related myopathy [RCV003152535] | pathogenic | 5 | 127396532 | 127396778 | Human | 1 | trait |
| 243050929 | CV2417665 | microsatellite | NM_001256545.2(MEGF10):c.131_132del (p.Val44fs) | MEGF10-related myopathy [RCV003152536] | pathogenic | 5 | 127339132 | 127339133 | Human | | trait |
| 405034395 | CV2904467 | single nucleotide variant | NM_001256545.2(MEGF10):c.2998A>G (p.Arg1000Gly) | MEGF10-related myopathy [RCV003529707] | uncertain significance | 5 | 127454583 | 127454583 | Human | 1 | trait |
| 11594291 | CV295140 | single nucleotide variant | NM_001256545.2(MEGF10):c.1128T>A (p.His376Gln) | MEGF10-related myopathy [RCV000357862] | uncertain significance | 5 | 127410599 | 127410599 | Human | 1 | trait |
| 11591568 | CV295150 | single nucleotide variant | NM_001256545.2(MEGF10):c.1783C>G (p.Pro595Ala) | MEGF10-related myopathy [RCV000330151] | uncertain significance | 5 | 127433452 | 127433452 | Human | 1 | trait |
| 11582618 | CV295156 | single nucleotide variant | NM_001256545.2(MEGF10):c.2762A>G (p.Asn921Ser) | MEGF10-related myopathy [RCV000261219] | uncertain significance | 5 | 127447590 | 127447590 | Human | 1 | trait |
| 11663351 | CV296953 | single nucleotide variant | NM_001256545.2(MEGF10):c.2284C>A (p.Gln762Lys) | MEGF10-related myopathy [RCV000395227] | uncertain significance | 5 | 127440789 | 127440789 | Human | 1 | trait |
| 11594442 | CV296963 | single nucleotide variant | NM_001256545.2(MEGF10):c.2348G>A (p.Arg783Gln) | MEGF10-related myopathy [RCV000359299] | uncertain significance | 5 | 127440853 | 127440853 | Human | 1 | trait |
| 11593278 | CV300754 | single nucleotide variant | NM_001256545.2(MEGF10):c.1876C>G (p.Gln626Glu) | MEGF10-related myopathy [RCV000347394] | uncertain significance | 5 | 127434722 | 127434722 | Human | 1 | trait |
| 11656345 | CV300770 | single nucleotide variant | NM_001256545.2(MEGF10):c.2810C>T (p.Ala937Val) | MEGF10-related myopathy [RCV000332828] | uncertain significance | 5 | 127447638 | 127447638 | Human | 1 | trait |
| 597860312 | CV3770072 | single nucleotide variant | NM_001256545.2(MEGF10):c.3312C>A (p.Asn1104Lys) | MEGF10-related myopathy [RCV005105924] | uncertain significance | 5 | 127457207 | 127457207 | Human | 1 | trait |
| 597943720 | CV3782667 | single nucleotide variant | NM_001256545.2(MEGF10):c.3158C>A (p.Ser1053Ter) | MEGF10-related myopathy [RCV005134207] | pathogenic | 5 | 127455533 | 127455533 | Human | 1 | trait |
| 8568700 | CV39917 | duplication | NM_001256545.2(MEGF10):c.2288_2297dup (p.Asp766delinsGluArgSerTer) | MEGF10-related myopathy [RCV000023950] | pathogenic | 5 | 127440791 | 127440792 | Human | 1 | trait |
| 8568703 | CV39920 | single nucleotide variant | NM_001256545.2(MEGF10):c.3144T>G (p.Tyr1048Ter) | MEGF10-related myopathy [RCV000023953] | pathogenic | 5 | 127455519 | 127455519 | Human | 1 | trait |
| 13475146 | CV454367 | single nucleotide variant | NM_001256545.2(MEGF10):c.3409A>G (p.Ser1137Gly) | MEGF10-related myopathy [RCV000548579] | uncertain significance | 5 | 127457304 | 127457304 | Human | 1 | trait |
| 13479906 | CV454690 | single nucleotide variant | NM_001256545.2(MEGF10):c.2431G>C (p.Asp811His) | MEGF10-related myopathy [RCV000550731] | uncertain significance | 5 | 127443066 | 127443066 | Human | 1 | trait |
| 13479825 | CV454692 | single nucleotide variant | NM_001256545.2(MEGF10):c.2704G>A (p.Val902Ile) | MEGF10-related myopathy [RCV000528268] | uncertain significance | 5 | 127445669 | 127445669 | Human | 1 | trait |
| 13485975 | CV454694 | single nucleotide variant | NM_001256545.2(MEGF10):c.2852C>T (p.Thr951Met) | MEGF10-related myopathy [RCV000553475] | uncertain significance | 5 | 127447680 | 127447680 | Human | 1 | trait |
| 13496146 | CV455000 | single nucleotide variant | NM_001256545.2(MEGF10):c.1627G>A (p.Asp543Asn) | MEGF10-related myopathy [RCV000537648] | uncertain significance | 5 | 127422706 | 127422706 | Human | 1 | trait |
| 13622501 | CV520475 | single nucleotide variant | NM_001256545.2(MEGF10):c.2477C>T (p.Ala826Val) | MEGF10-related myopathy [RCV000649864] | uncertain significance | 5 | 127443112 | 127443112 | Human | 1 | trait |
| 13622497 | CV520697 | single nucleotide variant | NM_001256545.2(MEGF10):c.2221T>C (p.Tyr741His) | MEGF10-related myopathy [RCV000649858] | uncertain significance | 5 | 127438555 | 127438555 | Human | 1 | trait |
| 13622505 | CV520968 | single nucleotide variant | NM_001256545.2(MEGF10):c.1012G>A (p.Ala338Thr) | MEGF10-related myopathy [RCV000649868] | uncertain significance | 5 | 127410483 | 127410483 | Human | 1 | trait |
| 13622498 | CV520971 | single nucleotide variant | NM_001256545.2(MEGF10):c.1654C>T (p.Pro552Ser) | MEGF10-related myopathy [RCV000649859] | uncertain significance | 5 | 127422733 | 127422733 | Human | 1 | trait |
| 13816263 | CV559993 | single nucleotide variant | NM_001256545.2(MEGF10):c.1012G>C (p.Ala338Pro) | MEGF10-related myopathy [RCV000692207] | uncertain significance | 5 | 127410483 | 127410483 | Human | 1 | trait |
| 13803528 | CV559997 | single nucleotide variant | NM_001256545.2(MEGF10):c.2467T>A (p.Trp823Arg) | MEGF10-related myopathy [RCV000699290] | uncertain significance | 5 | 127443102 | 127443102 | Human | 1 | trait |
| 13816286 | CV559999 | single nucleotide variant | NM_001256545.2(MEGF10):c.3086C>T (p.Pro1029Leu) | MEGF10-related myopathy [RCV000706261] | uncertain significance | 5 | 127455461 | 127455461 | Human | 1 | trait |
| 13817389 | CV560104 | single nucleotide variant | NM_001256545.2(MEGF10):c.1514G>A (p.Gly505Glu) | MEGF10-related myopathy [RCV000706988] | uncertain significance | 5 | 127420131 | 127420131 | Human | 1 | trait |
| 13821137 | CV560106 | single nucleotide variant | NM_001256545.2(MEGF10):c.3191T>A (p.Ile1064Asn) | MEGF10-related myopathy [RCV000695454] | uncertain significance | 5 | 127455566 | 127455566 | Human | 1 | trait |
| 13801924 | CV564455 | single nucleotide variant | NM_001256545.2(MEGF10):c.2330G>T (p.Arg777Leu) | MEGF10-related myopathy [RCV000698056] | uncertain significance | 5 | 127440835 | 127440835 | Human | 1 | trait |
| 13804727 | CV564456 | single nucleotide variant | NM_001256545.2(MEGF10):c.3005A>G (p.Tyr1002Cys) | MEGF10-related myopathy [RCV000699720] | uncertain significance | 5 | 127454590 | 127454590 | Human | 1 | trait |
| 14721542 | CV632913 | indel | NM_001256545.2(MEGF10):c.198delinsACATTC (p.Trp66Ter) | MEGF10-related myopathy [RCV000797146] | pathogenic | 5 | 127339201 | 127339201 | Human | | trait |
| 14725038 | CV632919 | single nucleotide variant | NM_001256545.2(MEGF10):c.1035T>A (p.Phe345Leu) | MEGF10-related myopathy [RCV000798647] | uncertain significance | 5 | 127410506 | 127410506 | Human | 1 | trait |
| 14743467 | CV632920 | single nucleotide variant | NM_001256545.2(MEGF10):c.1070A>G (p.Glu357Gly) | MEGF10-related myopathy [RCV000823463] | uncertain significance | 5 | 127410541 | 127410541 | Human | 1 | trait |
| 14744078 | CV632921 | single nucleotide variant | NM_001256545.2(MEGF10):c.1364G>A (p.Arg455His) | MEGF10-related myopathy [RCV000823852] | uncertain significance | 5 | 127419178 | 127419178 | Human | 1 | trait |
| 14732918 | CV632922 | single nucleotide variant | NM_001256545.2(MEGF10):c.1424C>T (p.Ala475Val) | MEGF10-related myopathy [RCV000818491] | uncertain significance | 5 | 127419238 | 127419238 | Human | 1 | trait |
| 14719120 | CV632925 | single nucleotide variant | NM_001256545.2(MEGF10):c.1562G>C (p.Arg521Pro) | MEGF10-related myopathy [RCV000796029] | uncertain significance | 5 | 127420179 | 127420179 | Human | 1 | trait |
| 14711306 | CV632928 | single nucleotide variant | NM_001256545.2(MEGF10):c.1687T>C (p.Trp563Arg) | MEGF10-related myopathy [RCV000809890] | uncertain significance | 5 | 127422766 | 127422766 | Human | 1 | trait |
| 14743253 | CV632930 | single nucleotide variant | NM_001256545.2(MEGF10):c.1894G>A (p.Val632Ile) | MEGF10-related myopathy [RCV000823333] | uncertain significance | 5 | 127434740 | 127434740 | Human | 1 | trait |
| 14739135 | CV632931 | single nucleotide variant | NM_001256545.2(MEGF10):c.1910C>T (p.Pro637Leu) | MEGF10-related myopathy [RCV000821218] | uncertain significance | 5 | 127434756 | 127434756 | Human | 1 | trait |
| 14740668 | CV632932 | single nucleotide variant | NM_001256545.2(MEGF10):c.2026A>G (p.Thr676Ala) | MEGF10-related myopathy [RCV000805461] | uncertain significance | 5 | 127435411 | 127435411 | Human | 1 | trait |
| 14721120 | CV632934 | single nucleotide variant | NM_001256545.2(MEGF10):c.2155C>T (p.His719Tyr) | MEGF10-related myopathy [RCV000796959] | uncertain significance | 5 | 127438489 | 127438489 | Human | 1 | trait |
| 14721360 | CV632935 | single nucleotide variant | NM_001256545.2(MEGF10):c.2290G>A (p.Gly764Arg) | MEGF10-related myopathy [RCV000797069] | uncertain significance | 5 | 127440795 | 127440795 | Human | 1 | trait |
| 14719020 | CV632936 | single nucleotide variant | NM_001256545.2(MEGF10):c.2464G>A (p.Gly822Arg) | MEGF10-related myopathy [RCV000812429] | uncertain significance | 5 | 127443099 | 127443099 | Human | 1 | trait |
| 14703180 | CV632937 | single nucleotide variant | NM_001256545.2(MEGF10):c.2570G>C (p.Gly857Ala) | MEGF10-related myopathy [RCV000807268] | uncertain significance | 5 | 127445535 | 127445535 | Human | 1 | trait |
| 14722493 | CV632939 | single nucleotide variant | NM_001256545.2(MEGF10):c.2707A>C (p.Asn903His) | MEGF10-related myopathy [RCV000797572] | uncertain significance | 5 | 127445672 | 127445672 | Human | 1 | trait |
| 14701368 | CV632940 | single nucleotide variant | NM_001256545.2(MEGF10):c.2852C>G (p.Thr951Arg) | MEGF10-related myopathy [RCV000806229] | uncertain significance | 5 | 127447680 | 127447680 | Human | 1 | trait |
| 14729786 | CV632941 | single nucleotide variant | NM_001256545.2(MEGF10):c.2974G>A (p.Glu992Lys) | MEGF10-related myopathy [RCV000800650] | uncertain significance | 5 | 127449216 | 127449216 | Human | 1 | trait |
| 14733735 | CV632942 | single nucleotide variant | NM_001256545.2(MEGF10):c.3194A>G (p.Asn1065Ser) | MEGF10-related myopathy [RCV000802406] | uncertain significance | 5 | 127455569 | 127455569 | Human | 1 | trait |
| 15123442 | CV691668 | single nucleotide variant | NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr) | MEGF10-related myopathy [RCV000874594] | likely benign|conflicting interpretations of pathogenicity | 5 | 127438510 | 127438510 | Human | 1 | trait |
| 15152920 | CV749181 | single nucleotide variant | NM_001256545.2(MEGF10):c.1739A>G (p.Asn580Ser) | MEGF10-related myopathy [RCV001432344] | likely benign | 5 | 127433408 | 127433408 | Human | 1 | trait |
| 26915685 | CV829912 | indel | NM_001256545.2(MEGF10):c.1012_1013delinsAA (p.Ala338Lys) | MEGF10-related myopathy [RCV001041497] | uncertain significance | 5 | 127410483 | 127410484 | Human | | trait |
| 26912307 | CV829929 | single nucleotide variant | NM_001256545.2(MEGF10):c.3089A>G (p.Tyr1030Cys) | MEGF10-related myopathy [RCV001039193] | uncertain significance | 5 | 127455464 | 127455464 | Human | 1 | trait |
| 26914881 | CV829930 | indel | NM_001256545.2(MEGF10):c.3387_3388delinsAA (p.Gly1130Ser) | MEGF10-related myopathy [RCV001040970] | uncertain significance | 5 | 127457282 | 127457283 | Human | | trait |
| 28892697 | CV892770 | single nucleotide variant | NM_001256545.2(MEGF10):c.3224A>G (p.Tyr1075Cys) | MEGF10-related myopathy [RCV001153268] | uncertain significance | 5 | 127455599 | 127455599 | Human | 1 | trait |
| 126725416 | CV990543 | single nucleotide variant | NM_001256545.2(MEGF10):c.1051G>A (p.Glu351Lys) | MEGF10-related myopathy [RCV001302559] | uncertain significance | 5 | 127410522 | 127410522 | Human | 1 | trait |
| 126743911 | CV990544 | single nucleotide variant | NM_001256545.2(MEGF10):c.1216G>A (p.Gly406Arg) | MEGF10-related myopathy [RCV001305770] | uncertain significance | 5 | 127417723 | 127417723 | Human | 1 | trait |
| 126763882 | CV990546 | single nucleotide variant | NM_001256545.2(MEGF10):c.2495G>C (p.Gly832Ala) | MEGF10-related myopathy [RCV001300880] | uncertain significance | 5 | 127445460 | 127445460 | Human | 1 | trait |
| 126762453 | CV990547 | single nucleotide variant | NM_001256545.2(MEGF10):c.2531G>C (p.Arg844Pro) | MEGF10-related myopathy [RCV001300401] | uncertain significance | 5 | 127445496 | 127445496 | Human | 1 | trait |
| 126739047 | CV990548 | single nucleotide variant | NM_001256545.2(MEGF10):c.2539A>C (p.Thr847Pro) | MEGF10-related myopathy [RCV001305077] | uncertain significance | 5 | 127445504 | 127445504 | Human | 1 | trait |
| 126757330 | CV990549 | single nucleotide variant | NM_001256545.2(MEGF10):c.2566A>G (p.Ile856Val) | MEGF10-related myopathy [RCV001308387] | uncertain significance | 5 | 127445531 | 127445531 | Human | 1 | trait |
| 126747496 | CV990550 | single nucleotide variant | NM_001256545.2(MEGF10):c.2686A>G (p.Thr896Ala) | MEGF10-related myopathy [RCV001306256] | uncertain significance | 5 | 127445651 | 127445651 | Human | 1 | trait |
| 126750768 | CV990552 | single nucleotide variant | NM_001256545.2(MEGF10):c.2842A>C (p.Met948Leu) | MEGF10-related myopathy [RCV001306911] | uncertain significance | 5 | 127447670 | 127447670 | Human | 1 | trait |
| 126763518 | CV990553 | single nucleotide variant | NM_001256545.2(MEGF10):c.3288G>C (p.Gln1096His) | MEGF10-related myopathy [RCV001300735] | uncertain significance | 5 | 127457183 | 127457183 | Human | 1 | trait |