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Pathways
Variants search result for All species
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1001 records found for search term Megf10
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
28902539CV892749single nucleotide variantNM_032446.2(MEGF10):c.-348C>AMEGF10-related myopathy [RCV001157160]uncertain significance5127290778127290778Human1name , trait
11591389CV300615single nucleotide variantNM_001256545.2(MEGF10):c.*4C>GMEGF10-related myopathy [RCV000328421]|not provided [RCV001718753]benign|likely benign|uncertain significance5127457322127457322Human1name
12840380CV367849single nucleotide variantNM_001256545.2(MEGF10):c.-7G>Anot specified [RCV000430597]likely benign5127331302127331302Humanname
11663264CV295116single nucleotide variantNM_001256545.2(MEGF10):c.-96A>CMEGF10-related myopathy [RCV000394224]uncertain significance5127290979127290979Human1name , trait
11585829CV296966single nucleotide variantNM_001256545.2(MEGF10):c.*22C>TMEGF10-related myopathy [RCV000283787]uncertain significance5127457340127457340Human1name , trait
11592878CV296967single nucleotide variantNM_001256545.2(MEGF10):c.*52G>TMEGF10-related myopathy [RCV000343432]|not provided [RCV001552701]likely benign|uncertain significance5127457370127457370Human1name
11596480CV300785single nucleotide variantNM_001256545.2(MEGF10):c.*13G>AMEGF10-related myopathy [RCV000383033]uncertain significance5127457331127457331Human1name , trait
28892705CV892772single nucleotide variantNM_001256545.2(MEGF10):c.*48G>AMEGF10-related myopathy [RCV001153270]uncertain significance5127457366127457366Human1name , trait
28899526CV892773single nucleotide variantNM_001256545.2(MEGF10):c.*77C>TMEGF10-related myopathy [RCV001155866]uncertain significance5127457395127457395Human1name , trait
11592182CV295112single nucleotide variantNM_001256545.2(MEGF10):c.-122G>AMEGF10-related myopathy [RCV000336372]|not provided [RCV001718750]benign|likely benign5127290953127290953Human1name
11597346CV295163single nucleotide variantNM_001256545.2(MEGF10):c.*447A>GMEGF10-related myopathy [RCV000393236]uncertain significance5127457765127457765Human1name , trait
11651197CV296949single nucleotide variantNM_001256545.2(MEGF10):c.-197T>CMEGF10-related myopathy [RCV000297675]uncertain significance5127290878127290878Human1name , trait
11593589CV296973single nucleotide variantNM_001256545.2(MEGF10):c.*601C>TMEGF10-related myopathy [RCV000350456]uncertain significance5127457919127457919Human1name , trait
11651645CV300632single nucleotide variantNM_001256545.2(MEGF10):c.*559G>AMEGF10-related myopathy [RCV000300266]uncertain significance5127457877127457877Human1name , trait
11595344CV300633single nucleotide variantNM_001256545.2(MEGF10):c.*933C>GMEGF10-related myopathy [RCV000369684]uncertain significance5127458251127458251Human1name , trait
11596202CV300794single nucleotide variantNM_001256545.2(MEGF10):c.*164G>AMEGF10-related myopathy [RCV000379479]uncertain significance5127457482127457482Human1name , trait
11585325CV300796single nucleotide variantNM_001256545.2(MEGF10):c.*192A>TMEGF10-related myopathy [RCV000280350]uncertain significance5127457510127457510Human1name , trait
11592073CV300797single nucleotide variantNM_001256545.2(MEGF10):c.*209C>GMEGF10-related myopathy [RCV000335143]|not provided [RCV001636975]benign5127457527127457527Human1name
11597348CV300798single nucleotide variantNM_001256545.2(MEGF10):c.*625A>GMEGF10-related myopathy [RCV000393249]benign|likely benign5127457943127457943Human1name , trait
11590032CV300827single nucleotide variantNM_001256545.2(MEGF10):c.*780A>CMEGF10-related myopathy [RCV000315140]uncertain significance5127458098127458098Human1name , trait
28888236CV892750single nucleotide variantNM_001256545.2(MEGF10):c.-219G>TMEGF10-related myopathy [RCV001151701]uncertain significance5127290856127290856Human1name , trait
28888239CV892751single nucleotide variantNM_001256545.2(MEGF10):c.-152A>GMEGF10-related myopathy [RCV001151702]uncertain significance5127290923127290923Human1name , trait
28899529CV892774single nucleotide variantNM_001256545.2(MEGF10):c.*104G>AMEGF10-related myopathy [RCV001155867]uncertain significance5127457422127457422Human1name , trait
28899531CV892775single nucleotide variantNM_001256545.2(MEGF10):c.*154C>TMEGF10-related myopathy [RCV001155868]uncertain significance5127457472127457472Human1name , trait
28899534CV892776single nucleotide variantNM_001256545.2(MEGF10):c.*186C>AMEGF10-related myopathy [RCV001155869]uncertain significance5127457504127457504Human1name , trait
28899536CV892777single nucleotide variantNM_001256545.2(MEGF10):c.*187G>AMEGF10-related myopathy [RCV001155870]uncertain significance5127457505127457505Human1name , trait
28903456CV892778single nucleotide variantNM_001256545.2(MEGF10):c.*296C>TMEGF10-related myopathy [RCV001157571]uncertain significance5127457614127457614Human1name , trait
28903458CV892779single nucleotide variantNM_001256545.2(MEGF10):c.*357T>GMEGF10-related myopathy [RCV001157572]uncertain significance5127457675127457675Human1name , trait
28903462CV892780single nucleotide variantNM_001256545.2(MEGF10):c.*534A>GMEGF10-related myopathy [RCV001157573]|not provided [RCV004706042]likely benign5127457852127457852Human1name
28903465CV892781single nucleotide variantNM_001256545.2(MEGF10):c.*551G>AMEGF10-related myopathy [RCV001157574]uncertain significance5127457869127457869Human1name , trait
28889462CV892782single nucleotide variantNM_001256545.2(MEGF10):c.*602G>AMEGF10-related myopathy [RCV001152104]uncertain significance5127457920127457920Human1name , trait
28889465CV892783single nucleotide variantNM_001256545.2(MEGF10):c.*663A>CMEGF10-related myopathy [RCV001152105]uncertain significance5127457981127457981Human1name , trait
28889468CV892784single nucleotide variantNM_001256545.2(MEGF10):c.*941A>GMEGF10-related myopathy [RCV001152106]uncertain significance5127458259127458259Human1name , trait
126750081CV1026240single nucleotide variantNM_001256545.2(MEGF10):c.413-7A>GMEGF10-related myopathy [RCV001337972]uncertain significance5127396525127396525Human1name , trait
127275841CV1072126single nucleotide variantNM_001256545.2(MEGF10):c.320-9C>GMEGF10-related myopathy [RCV001406921]likely benign5127369901127369901Human1name , trait
127232087CV1072128single nucleotide variantNM_001256545.2(MEGF10):c.917+7G>AMEGF10-related myopathy [RCV001395555]likely benign5127402689127402689Human1name , trait
127301809CV1136202single nucleotide variantNM_001256545.2(MEGF10):c.412+8T>CMEGF10-related myopathy [RCV001478802]likely benign5127370010127370010Human1name , trait
8580343CV114773single nucleotide variantNM_032446.2(MEGF10):c.116+3668G>CLung cancer [RCV000095296]uncertain significance5127335092127335092Humanname
127296245CV1162275single nucleotide variantNM_001256545.2(MEGF10):c.*3847G>TMEGF10-related myopathy [RCV001527389]uncertain significance5127461165127461165Human1name , trait
151738712CV1390071single nucleotide variantNM_001256545.2(MEGF10):c.117-3C>TMEGF10-related myopathy [RCV001893053]uncertain significance5127339117127339117Human1name , trait
151742617CV1514804single nucleotide variantNM_001256545.2(MEGF10):c.219-3T>CMEGF10-related myopathy [RCV002022469]uncertain significance5127340527127340527Human1name , trait
152061658CV1558407single nucleotide variantNM_001256545.2(MEGF10):c.413-5C>TMEGF10-related myopathy [RCV002128408]likely benign5127396527127396527Human1name , trait
152077866CV1564752single nucleotide variantNM_001256545.2(MEGF10):c.117-8C>GMEGF10-related myopathy [RCV002192654]likely benign5127339112127339112Human1name , trait
156283571CV1929605single nucleotide variantNM_001256545.2(MEGF10):c.319+1G>AMEGF10-related myopathy [RCV002628520]likely pathogenic5127340631127340631Human1name , trait
156329398CV2116357single nucleotide variantNM_001256545.2(MEGF10):c.219-4A>GMEGF10-related myopathy [RCV002938280]likely benign5127340526127340526Human1name , trait
155954183CV2123717single nucleotide variantNM_001256545.2(MEGF10):c.781-1G>AMEGF10-related myopathy [RCV002972030]likely pathogenic5127402545127402545Human1name , trait
155948404CV2164705single nucleotide variantNM_001256545.2(MEGF10):c.218+8A>CMEGF10-related myopathy [RCV003032294]likely benign5127339229127339229Human1name , trait
156135771CV2169516single nucleotide variantNM_001256545.2(MEGF10):c.412+1G>TMEGF10-related myopathy [RCV003022345]likely pathogenic5127370003127370003Human1name , trait
11542936CV251620single nucleotide variantNM_001256545.2(MEGF10):c.219-7T>CMEGF10-related myopathy [RCV002058374]|not specified [RCV000241794]likely benign5127340523127340523Human1name
11546064CV251624single nucleotide variantNM_001256545.2(MEGF10):c.660-3C>TMEGF10-related myopathy [RCV000351213]|not specified [RCV000245974]benign|likely benign5127398673127398673Human1name
405024860CV2877296single nucleotide variantNM_001256545.2(MEGF10):c.781-4G>AMEGF10-related myopathy [RCV003528890]likely benign5127402542127402542Human1name , trait
405018588CV2934001deletionNM_001256545.2(MEGF10):c.117-9delMEGF10-related myopathy [RCV003527990]likely benign5127339109127339109Human1name , trait
11588967CV295164single nucleotide variantNM_001256545.2(MEGF10):c.*1094A>TMEGF10-related myopathy [RCV000307002]uncertain significance5127458412127458412Human1name , trait
11595912CV295165single nucleotide variantNM_001256545.2(MEGF10):c.*1387A>GMEGF10-related myopathy [RCV000376350]uncertain significance5127458705127458705Human1name , trait
11593071CV295172single nucleotide variantNM_001256545.2(MEGF10):c.*2149G>AMEGF10-related myopathy [RCV000345302]benign|likely benign5127459467127459467Human1name , trait
11652537CV295173single nucleotide variantNM_001256545.2(MEGF10):c.*2555A>GMEGF10-related myopathy [RCV000305715]uncertain significance5127459873127459873Human1name , trait
11594570CV295180single nucleotide variantNM_001256545.2(MEGF10):c.*2630A>GMEGF10-related myopathy [RCV000360535]uncertain significance5127459948127459948Human1name , trait
11582789CV295182single nucleotide variantNM_001256545.2(MEGF10):c.*3267G>CMEGF10-related myopathy [RCV000262349]uncertain significance5127460585127460585Human1name , trait
11656174CV295192single nucleotide variantNM_001256545.2(MEGF10):c.*3313T>CMEGF10-related myopathy [RCV000331577]uncertain significance5127460631127460631Human1name , trait
11591749CV295193single nucleotide variantNM_001256545.2(MEGF10):c.*3537T>CMEGF10-related myopathy [RCV000332148]uncertain significance5127460855127460855Human1name , trait
11661988CV295196single nucleotide variantNM_001256545.2(MEGF10):c.*3562C>TMEGF10-related myopathy [RCV000382025]uncertain significance5127460880127460880Human1name , trait
11585868CV295202single nucleotide variantNM_001256545.2(MEGF10):c.*3615G>AMEGF10-related myopathy [RCV000284008]uncertain significance5127460933127460933Human1name , trait
11652418CV295204single nucleotide variantNM_001256545.2(MEGF10):c.*3868G>AMEGF10-related myopathy [RCV000304987]uncertain significance5127461186127461186Human1name , trait
11595054CV296986single nucleotide variantNM_001256545.2(MEGF10):c.*1170G>AMEGF10-related myopathy [RCV000366355]uncertain significance5127458488127458488Human1name , trait
11655037CV296989single nucleotide variantNM_001256545.2(MEGF10):c.*1469G>AMEGF10-related myopathy [RCV000322769]uncertain significance5127458787127458787Human1name , trait
11656967CV296990single nucleotide variantNM_001256545.2(MEGF10):c.*1699G>AMEGF10-related myopathy [RCV000337882]uncertain significance5127459017127459017Human1name , trait
11661133CV296992single nucleotide variantNM_001256545.2(MEGF10):c.*1746T>GMEGF10-related myopathy [RCV000373730]uncertain significance5127459064127459064Human1name , trait
11589817CV296999single nucleotide variantNM_001256545.2(MEGF10):c.*2114T>CMEGF10-related myopathy [RCV000313754]|not provided [RCV004705374]likely benign5127459432127459432Human1name
11597761CV297002single nucleotide variantNM_001256545.2(MEGF10):c.*2174T>CMEGF10-related myopathy [RCV000397859]uncertain significance5127459492127459492Human1name , trait
11654263CV297003single nucleotide variantNM_001256545.2(MEGF10):c.*2972T>CMEGF10-related myopathy [RCV000316261]uncertain significance5127460290127460290Human1name , trait
11657125CV297006single nucleotide variantNM_001256545.2(MEGF10):c.*3669C>AMEGF10-related myopathy [RCV000339018]uncertain significance5127460987127460987Human1name , trait
11658573CV300568single nucleotide variantNM_001256545.2(MEGF10):c.780+9C>TMEGF10-related myopathy [RCV000350257]uncertain significance5127398805127398805Human1name , trait
11584146CV300648single nucleotide variantNM_001256545.2(MEGF10):c.*1246C>TMEGF10-related myopathy [RCV000271811]benign|likely benign5127458564127458564Human1name , trait
11583554CV300654single nucleotide variantNM_001256545.2(MEGF10):c.*1410G>TMEGF10-related myopathy [RCV000267696]|not provided [RCV004707124]likely benign5127458728127458728Human1name
11585011CV300656single nucleotide variantNM_001256545.2(MEGF10):c.*1584G>AMEGF10-related myopathy [RCV000278124]uncertain significance5127458902127458902Human1name , trait
11664502CV300657single nucleotide variantNM_001256545.2(MEGF10):c.*2106T>CMEGF10-related myopathy [RCV000406514]uncertain significance5127459424127459424Human1name , trait
11594927CV300658single nucleotide variantNM_001256545.2(MEGF10):c.*2236C>AMEGF10-related myopathy [RCV000364895]benign5127459554127459554Human1name , trait
11594253CV300667single nucleotide variantNM_001256545.2(MEGF10):c.*3175G>AMEGF10-related myopathy [RCV000357192]uncertain significance5127460493127460493Human1name , trait
11662431CV300671single nucleotide variantNM_001256545.2(MEGF10):c.*3461A>GMEGF10-related myopathy [RCV000386121]uncertain significance5127460779127460779Human1name , trait
11593255CV300673single nucleotide variantNM_001256545.2(MEGF10):c.*3575T>GMEGF10-related myopathy [RCV000347142]benign5127460893127460893Human1name , trait
11583950CV300831single nucleotide variantNM_001256545.2(MEGF10):c.*1052C>AMEGF10-related myopathy [RCV000270496]uncertain significance5127458370127458370Human1name , trait
11590784CV300832single nucleotide variantNM_001256545.2(MEGF10):c.*1296T>AMEGF10-related myopathy [RCV000322263]uncertain significance5127458614127458614Human1name , trait
11661021CV300833single nucleotide variantNM_001256545.2(MEGF10):c.*1496T>CMEGF10-related myopathy [RCV000372716]uncertain significance5127458814127458814Human1name , trait
11587219CV300835single nucleotide variantNM_001256545.2(MEGF10):c.*1810C>TMEGF10-related myopathy [RCV000293398]|not provided [RCV004707125]likely benign5127459128127459128Human1name
11658381CV300836single nucleotide variantNM_001256545.2(MEGF10):c.*1866C>TMEGF10-related myopathy [RCV000348711]uncertain significance5127459184127459184Human1name , trait
11589391CV300837single nucleotide variantNM_001256545.2(MEGF10):c.*2222A>GMEGF10-related myopathy [RCV000310246]uncertain significance5127459540127459540Human1name , trait
11583269CV300839single nucleotide variantNM_001256545.2(MEGF10):c.*2519G>AMEGF10-related myopathy [RCV000265613]uncertain significance5127459837127459837Human1name , trait
11582632CV300852single nucleotide variantNM_001256545.2(MEGF10):c.*2663T>CMEGF10-related myopathy [RCV000261081]uncertain significance5127459981127459981Human1name , trait
11586410CV300853single nucleotide variantNM_001256545.2(MEGF10):c.*3566G>TMEGF10-related myopathy [RCV000287622]uncertain significance5127460884127460884Human1name , trait
11664239CV300855single nucleotide variantNM_001256545.2(MEGF10):c.*3577T>CMEGF10-related myopathy [RCV000404034]uncertain significance5127460895127460895Human1name , trait
11663403CV300856single nucleotide variantNM_001256545.2(MEGF10):c.*3769C>TMEGF10-related myopathy [RCV000395810]uncertain significance5127461087127461087Human1name , trait
12844792CV367856single nucleotide variantNM_001256545.2(MEGF10):c.917+6G>TMEGF10-related myopathy [RCV002525478]|not specified [RCV000438617]likely benign|uncertain significance5127402688127402688Human1name
597958924CV3751897single nucleotide variantNM_001256545.2(MEGF10):c.781-8G>TMEGF10-related myopathy [RCV005081027]likely benign5127402538127402538Human1name , trait
597955030CV3786806single nucleotide variantNM_001256545.2(MEGF10):c.219-9T>CMEGF10-related myopathy [RCV005121898]likely benign5127340521127340521Human1name , trait
13492503CV454336single nucleotide variantNM_001256545.2(MEGF10):c.319+1G>CMEGF10-related myopathy [RCV000557494]likely pathogenic5127340631127340631Human1name , trait
13814739CV564447single nucleotide variantNM_001256545.2(MEGF10):c.412+2T>CMEGF10-related myopathy [RCV000705234]likely pathogenic5127370004127370004Human1name , trait
15121179CV759434single nucleotide variantNM_001256545.2(MEGF10):c.413-4T>CMEGF10-related myopathy [RCV000918440]likely benign5127396528127396528Human1name , trait
28889472CV892785single nucleotide variantNM_001256545.2(MEGF10):c.*1028G>AMEGF10-related myopathy [RCV001152107]|not provided [RCV003433048]likely benign|uncertain significance5127458346127458346Human1name
28892996CV892786single nucleotide variantNM_001256545.2(MEGF10):c.*1150T>CMEGF10-related myopathy [RCV001153373]|not provided [RCV004707555]likely benign5127458468127458468Human1name
28892999CV892787single nucleotide variantNM_001256545.2(MEGF10):c.*1312G>AMEGF10-related myopathy [RCV001153374]uncertain significance5127458630127458630Human1name , trait
28893004CV892788single nucleotide variantNM_001256545.2(MEGF10):c.*1375A>GMEGF10-related myopathy [RCV001153375]uncertain significance5127458693127458693Human1name , trait
28899796CV892789single nucleotide variantNM_001256545.2(MEGF10):c.*1522C>AMEGF10-related myopathy [RCV001155981]likely benign5127458840127458840Human1name , trait
28899800CV892790single nucleotide variantNM_001256545.2(MEGF10):c.*1685G>TMEGF10-related myopathy [RCV001155982]likely benign5127459003127459003Human1name , trait
28903727CV892791single nucleotide variantNM_001256545.2(MEGF10):c.*1901C>TMEGF10-related myopathy [RCV001157692]uncertain significance5127459219127459219Human1name , trait
28903731CV892792single nucleotide variantNM_001256545.2(MEGF10):c.*1953G>CMEGF10-related myopathy [RCV001157693]uncertain significance5127459271127459271Human1name , trait
28903734CV892793single nucleotide variantNM_001256545.2(MEGF10):c.*1983T>CMEGF10-related myopathy [RCV001157694]uncertain significance5127459301127459301Human1name , trait
28903737CV892794single nucleotide variantNM_001256545.2(MEGF10):c.*2001A>GMEGF10-related myopathy [RCV001157695]uncertain significance5127459319127459319Human1name , trait
28903740CV892795single nucleotide variantNM_001256545.2(MEGF10):c.*2002A>TMEGF10-related myopathy [RCV001157696]uncertain significance5127459320127459320Human1name , trait
28903744CV892796single nucleotide variantNM_001256545.2(MEGF10):c.*2066A>GMEGF10-related myopathy [RCV001157697]uncertain significance5127459384127459384Human1name , trait
28903747CV892797single nucleotide variantNM_001256545.2(MEGF10):c.*2098G>AMEGF10-related myopathy [RCV001157698]uncertain significance5127459416127459416Human1name , trait
28889798CV892798single nucleotide variantNM_001256545.2(MEGF10):c.*2113A>GMEGF10-related myopathy [RCV001152211]uncertain significance5127459431127459431Human1name , trait
28893333CV892799single nucleotide variantNM_001256545.2(MEGF10):c.*2240G>AMEGF10-related myopathy [RCV001153497]|not provided [RCV004707556]likely benign5127459558127459558Human1name
28893337CV892800single nucleotide variantNM_001256545.2(MEGF10):c.*2329T>CMEGF10-related myopathy [RCV001153498]uncertain significance5127459647127459647Human1name , trait
28893339CV892801single nucleotide variantNM_001256545.2(MEGF10):c.*2485G>TMEGF10-related myopathy [RCV001153499]uncertain significance5127459803127459803Human1name , trait
28893341CV892802single nucleotide variantNM_001256545.2(MEGF10):c.*2518C>TMEGF10-related myopathy [RCV001153500]uncertain significance5127459836127459836Human1name , trait
28893345CV892803single nucleotide variantNM_001256545.2(MEGF10):c.*2549G>CMEGF10-related myopathy [RCV001153501]uncertain significance5127459867127459867Human1name , trait
28900072CV892804single nucleotide variantNM_001256545.2(MEGF10):c.*2852T>CMEGF10-related myopathy [RCV001156101]uncertain significance5127460170127460170Human1name , trait
28900074CV892805single nucleotide variantNM_001256545.2(MEGF10):c.*2868G>AMEGF10-related myopathy [RCV001156102]uncertain significance5127460186127460186Human1name , trait
28900076CV892806single nucleotide variantNM_001256545.2(MEGF10):c.*2911T>GMEGF10-related myopathy [RCV001156103]uncertain significance5127460229127460229Human1name , trait
28900078CV892807single nucleotide variantNM_001256545.2(MEGF10):c.*3053A>GMEGF10-related myopathy [RCV001156104]uncertain significance5127460371127460371Human1name , trait
28900080CV892808single nucleotide variantNM_001256545.2(MEGF10):c.*3131A>CMEGF10-related myopathy [RCV001156105]uncertain significance5127460449127460449Human1name , trait
28900084CV892809single nucleotide variantNM_001256545.2(MEGF10):c.*3153C>TMEGF10-related myopathy [RCV001156106]uncertain significance5127460471127460471Human1name , trait
28903967CV892810single nucleotide variantNM_001256545.2(MEGF10):c.*3191A>TMEGF10-related myopathy [RCV001157793]uncertain significance5127460509127460509Human1name , trait
28903970CV892811single nucleotide variantNM_001256545.2(MEGF10):c.*3238A>CMEGF10-related myopathy [RCV001157794]uncertain significance5127460556127460556Human1name , trait
28890070CV892812single nucleotide variantNM_001256545.2(MEGF10):c.*3614C>TMEGF10-related myopathy [RCV001152312]uncertain significance5127460932127460932Human1name , trait
28890073CV892813single nucleotide variantNM_001256545.2(MEGF10):c.*3715A>GMEGF10-related myopathy [RCV001152313]uncertain significance5127461033127461033Human1name , trait
28890078CV892814single nucleotide variantNM_001256545.2(MEGF10):c.*3770A>GMEGF10-related myopathy [RCV001152314]uncertain significance5127461088127461088Human1name , trait
28893588CV892815single nucleotide variantNM_001256545.2(MEGF10):c.*3865T>CMEGF10-related myopathy [RCV001153598]uncertain significance5127461183127461183Human1name , trait
38498283CV960546single nucleotide variantNM_001256545.2(MEGF10):c.218+5T>CMEGF10-related myopathy [RCV001243719]uncertain significance5127339226127339226Human1name , trait
126908575CV1043212single nucleotide variantNM_001256545.2(MEGF10):c.1694-3C>GMEGF10-related myopathy [RCV001368011]uncertain significance5127433360127433360Human1name , trait
127301655CV1136203single nucleotide variantNM_001256545.2(MEGF10):c.659+10A>TMEGF10-related myopathy [RCV001498902]likely benign5127396788127396788Human1name , trait
150414075CV1176532duplicationNM_001256545.2(MEGF10):c.-18-12dupnot provided [RCV001547990]likely benign5127331273127331274Humanname
150418304CV1197286single nucleotide variantNM_001256545.2(MEGF10):c.219-30G>Anot provided [RCV001576684]likely benign5127340500127340500Humanname
150489814CV1208509single nucleotide variantNM_001256545.2(MEGF10):c.218+42G>Anot provided [RCV001592370]likely benign5127339263127339263Humanname
150481405CV1222158single nucleotide variantNM_001256545.2(MEGF10):c.660-73C>Tnot provided [RCV001616956]benign5127398603127398603Humanname
150542856CV1314981single nucleotide variantNM_001256545.2(MEGF10):c.1131-1G>Anot provided [RCV003487006]likely pathogenic5127417637127417637Humanname
151721944CV1347941single nucleotide variantNM_001256545.2(MEGF10):c.1694-2A>GMEGF10-related myopathy [RCV001966111]likely pathogenic5127433361127433361Human1name , trait
151854388CV1372639single nucleotide variantNM_001256545.2(MEGF10):c.1976-9T>GMEGF10-related myopathy [RCV001996356]uncertain significance5127435352127435352Human1name , trait
151749891CV1381018single nucleotide variantNM_001256545.2(MEGF10):c.2980+1G>TMEGF10-related myopathy [RCV002023271]likely pathogenic5127449223127449223Human1name , trait
151768345CV1408150single nucleotide variantNM_001256545.2(MEGF10):c.1426+3A>TMEGF10-related myopathy [RCV001914736]uncertain significance5127419243127419243Human1name , trait
152117379CV1524145single nucleotide variantNM_001256545.2(MEGF10):c.412+20T>CMEGF10-related myopathy [RCV002135267]likely benign5127370022127370022Human1name , trait
152027751CV1529564single nucleotide variantNM_001256545.2(MEGF10):c.412+17T>AMEGF10-related myopathy [RCV002185607]likely benign5127370019127370019Human1name , trait
152150744CV1559539single nucleotide variantNM_001256545.2(MEGF10):c.3025+7T>CMEGF10-related myopathy [RCV002220774]likely benign5127454617127454617Human1name , trait
152078956CV1602231single nucleotide variantNM_001256545.2(MEGF10):c.1427-7C>TMEGF10-related myopathy [RCV002149053]likely benign5127420037127420037Human1name , trait
152101270CV1606852single nucleotide variantNM_001256545.2(MEGF10):c.781-12C>TMEGF10-related myopathy [RCV002195580]likely benign5127402534127402534Human1name , trait
152049714CV1627793single nucleotide variantNM_001256545.2(MEGF10):c.918-11T>CMEGF10-related myopathy [RCV002108796]likely benign5127410378127410378Human1name , trait
152138350CV1657818single nucleotide variantNM_001256545.2(MEGF10):c.412+11A>TMEGF10-related myopathy [RCV002177718]likely benign5127370013127370013Human1name , trait
152139449CV1660604single nucleotide variantNM_001256545.2(MEGF10):c.219-11C>TMEGF10-related myopathy [RCV002120156]likely benign5127340519127340519Human1name , trait
155946815CV1872225single nucleotide variantNM_001256545.2(MEGF10):c.218+11C>TMEGF10-related myopathy [RCV003073899]likely benign5127339232127339232Human1name , trait
156382079CV1890049single nucleotide variantNM_001256545.2(MEGF10):c.116+20C>AMEGF10-related myopathy [RCV003093363]likely benign5127331444127331444Human1name , trait
156320361CV1896813single nucleotide variantNM_001256545.2(MEGF10):c.917+13C>AMEGF10-related myopathy [RCV003088964]likely benign5127402695127402695Human1name , trait
155982986CV1896903single nucleotide variantNM_001256545.2(MEGF10):c.116+16G>TMEGF10-related myopathy [RCV003097476]likely benign5127331440127331440Human1name , trait
156208821CV1906127single nucleotide variantNM_001256545.2(MEGF10):c.1976-7T>GMEGF10-related myopathy [RCV003084511]benign5127435354127435354Human1name , trait
156413994CV1919450single nucleotide variantNM_001256545.2(MEGF10):c.780+11T>GMEGF10-related myopathy [RCV002588343]likely benign5127398807127398807Human1name , trait
156445117CV1945114single nucleotide variantNM_001256545.2(MEGF10):c.3232+1G>AMEGF10-related myopathy [RCV003116054]uncertain significance5127455608127455608Human1name , trait
156083371CV1956339single nucleotide variantNM_001256545.2(MEGF10):c.320-20A>GMEGF10-related myopathy [RCV002569982]likely benign5127369890127369890Human1name , trait
156321644CV2014556single nucleotide variantNM_001256545.2(MEGF10):c.2857-2A>CMEGF10-related myopathy [RCV002672234]likely pathogenic5127449097127449097Human1name , trait
156065018CV2065538single nucleotide variantNM_001256545.2(MEGF10):c.2363-6C>TMEGF10-related myopathy [RCV002846898]likely benign5127442992127442992Human1name , trait
156319282CV2090539single nucleotide variantNM_001256545.2(MEGF10):c.659+16C>TMEGF10-related myopathy [RCV002899183]likely benign5127396794127396794Human1name , trait
156047579CV2091285single nucleotide variantNM_001256545.2(MEGF10):c.2729-4G>TMEGF10-related myopathy [RCV002886048]likely benign5127447553127447553Human1name , trait
156128150CV2112442duplicationNM_001256545.2(MEGF10):c.1130+2dupMEGF10-related myopathy [RCV002928087]uncertain significance5127410602127410603Human1name , trait
155953980CV2123703single nucleotide variantNM_001256545.2(MEGF10):c.660-15A>GMEGF10-related myopathy [RCV002972019]likely benign5127398661127398661Human1name , trait
156095794CV2135790single nucleotide variantNM_001256545.2(MEGF10):c.1427-6G>AMEGF10-related myopathy [RCV003002015]|not provided [RCV004546755]likely benign|uncertain significance5127420038127420038Human1name
156045030CV2157683single nucleotide variantNM_001256545.2(MEGF10):c.1975+9C>TMEGF10-related myopathy [RCV003019202]likely benign5127434830127434830Human1name , trait
156115199CV2172539single nucleotide variantNM_001256545.2(MEGF10):c.917+16G>AMEGF10-related myopathy [RCV003039098]likely benign5127402698127402698Human1name , trait
156341805CV2174955single nucleotide variantNM_001256545.2(MEGF10):c.412+17T>CMEGF10-related myopathy [RCV003047777]likely benign5127370019127370019Human1name , trait
156211591CV2175737single nucleotide variantNM_001256545.2(MEGF10):c.319+17C>TMEGF10-related myopathy [RCV003024826]likely benign5127340647127340647Human1name , trait
243049301CV2410032single nucleotide variantNM_001256545.2(MEGF10):c.2104+1G>Tnot provided [RCV003491337]likely pathogenic5127435490127435490Humanname
243050928CV2417663single nucleotide variantNM_001256545.2(MEGF10):c.2981-2A>GCongenital myopathy 10b, mild variant [RCV003152534]pathogenic5127454564127454564Human1name
243050850CV2417668single nucleotide variantNM_001256545.2(MEGF10):c.1426+1G>TCongenital myopathy 10b, mild variant [RCV003152539]pathogenic5127419241127419241Human1name
11525638CV246971single nucleotide variantNM_001256545.2(MEGF10):c.1130+3G>AMEGF10-related disorder [RCV004757179]|MEGF10-related myopathy [RCV000541662]|not provided [RCV001722280]|not specified [RCV000238655]likely benign|conflicting interpretations of pathogenicity|uncertain significance5127410604127410604Human1name , trait , alternate_id
11548838CV251616single nucleotide variantNM_001256545.2(MEGF10):c.116+10T>CMEGF10-related myopathy [RCV000365637]|not specified [RCV000249617]benign|likely benign|conflicting interpretations of pathogenicity5127331434127331434Human1name
11550501CV251619single nucleotide variantNM_001256545.2(MEGF10):c.218+17C>GMEGF10-related myopathy [RCV001197001]|not provided [RCV004705118]|not specified [RCV000251835]benign|likely benign5127339238127339238Human1name
405025904CV2871683single nucleotide variantNM_001256545.2(MEGF10):c.660-13G>TMEGF10-related myopathy [RCV003528982]likely benign5127398663127398663Human1name , trait
405027612CV2876945single nucleotide variantNM_001256545.2(MEGF10):c.659+17C>GMEGF10-related myopathy [RCV003529119]likely benign5127396795127396795Human1name , trait
405028273CV2884636single nucleotide variantNM_001256545.2(MEGF10):c.319+17C>AMEGF10-related myopathy [RCV003529172]likely benign5127340647127340647Human1name , trait
405028604CV2885098single nucleotide variantNM_001256545.2(MEGF10):c.218+16G>AMEGF10-related myopathy [RCV003529201]likely benign5127339237127339237Human1name , trait
405029751CV2892009single nucleotide variantNM_001256545.2(MEGF10):c.2729-7C>GMEGF10-related myopathy [RCV003529224]likely benign5127447550127447550Human1name , trait
405015725CV2921010single nucleotide variantNM_001256545.2(MEGF10):c.117-12A>CMEGF10-related myopathy [RCV003527717]likely benign5127339108127339108Human1name , trait
402484044CV2943254single nucleotide variantNM_001256545.2(MEGF10):c.413-17T>CMEGF10-related myopathy [RCV003643100]likely benign5127396515127396515Human1name , trait
11589148CV295119single nucleotide variantNM_001256545.2(MEGF10):c.-18-11C>TMEGF10-related myopathy [RCV000308638]|not provided [RCV001698130]likely benign|uncertain significance5127331280127331280Human1name
11584860CV295161single nucleotide variantNM_001256545.2(MEGF10):c.3026-8C>TMEGF10-related disorder [RCV003912494]|MEGF10-related myopathy [RCV000277051]|not provided [RCV000859520]|not specified [RCV000420054]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance5127455393127455393Human1name , trait , alternate_id
11586729CV296952single nucleotide variantNM_001256545.2(MEGF10):c.1841-5T>CMEGF10-related myopathy [RCV000290088]|not provided [RCV000762160]conflicting interpretations of pathogenicity|uncertain significance5127434682127434682Human1name
11590336CV300580single nucleotide variantNM_001256545.2(MEGF10):c.1426+5G>TMEGF10-related myopathy [RCV000318035]uncertain significance5127419245127419245Human1name , trait
405268320CV3189627single nucleotide variantNM_001256545.2(MEGF10):c.3232+8C>TMEGF10-related disorder [RCV003899018]likely benign5127455615127455615Humanname , trait , alternate_id
596930875CV3529717single nucleotide variantNM_001256545.2(MEGF10):c.1840+6T>Anot provided [RCV004780766]uncertain significance5127433515127433515Humanname
12743248CV361440single nucleotide variantNM_001256545.2(MEGF10):c.1976-1G>Anot provided [RCV000416216]likely pathogenic5127435360127435360Humanname
12839237CV367854single nucleotide variantNM_001256545.2(MEGF10):c.116+12G>CMEGF10-related myopathy [RCV002521708]|not provided [RCV004705562]|not specified [RCV000428438]likely benign5127331436127331436Human1name
12843038CV367859single nucleotide variantNM_001256545.2(MEGF10):c.2857-8T>GMEGF10-related myopathy [RCV000546776]|not provided [RCV001720176]benign|likely benign|conflicting interpretations of pathogenicity5127449091127449091Human1name
597851657CV3747033single nucleotide variantNM_001256545.2(MEGF10):c.1694-7A>TMEGF10-related myopathy [RCV005060661]likely benign5127433356127433356Human1name , trait
597848149CV3762103single nucleotide variantNM_001256545.2(MEGF10):c.2491+9A>TMEGF10-related myopathy [RCV005087521]likely benign5127443135127443135Human1name , trait
597958842CV3797392single nucleotide variantNM_001256545.2(MEGF10):c.319+14T>AMEGF10-related myopathy [RCV005138079]likely benign5127340644127340644Human1name , trait
597959684CV3797618single nucleotide variantNM_001256545.2(MEGF10):c.1305+8A>CMEGF10-related myopathy [RCV005138305]likely benign5127417820127417820Human1name , trait
597947642CV3800755single nucleotide variantNM_001256545.2(MEGF10):c.780+12T>CMEGF10-related myopathy [RCV005135155]likely benign5127398808127398808Human1name , trait
597868779CV3838914single nucleotide variantNM_001256545.2(MEGF10):c.660-10A>GMEGF10-related myopathy [RCV005176210]likely benign5127398666127398666Human1name , trait
597943251CV3847638single nucleotide variantNM_001256545.2(MEGF10):c.319+20C>GMEGF10-related myopathy [RCV005188366]likely benign5127340650127340650Human1name , trait
598125955CV3883374single nucleotide variantNM_001256545.2(MEGF10):c.1840+1G>ACongenital myopathy 10b, mild variant [RCV005233245]likely pathogenic5127433510127433510Human1name
12893178CV406615duplicationNM_001256545.2(MEGF10):c.2362+2dupMEGF10-related myopathy [RCV001057190]|not provided [RCV000478036]likely pathogenic|uncertain significance5127440868127440869Human1name
13482886CV454342single nucleotide variantNM_001256545.2(MEGF10):c.2857-2A>GMEGF10-related myopathy [RCV000529609]|not provided [RCV001311667]likely pathogenic|conflicting interpretations of pathogenicity5127449097127449097Human1name
13527705CV501127single nucleotide variantNM_001256545.2(MEGF10):c.2980+9T>Cnot specified [RCV000599855]likely benign5127449231127449231Humanname
14731550CV651272single nucleotide variantNM_001256545.2(MEGF10):c.2104+1G>AMEGF10-related myopathy [RCV000801464]likely pathogenic5127435490127435490Human1name , trait
14721432CV660508single nucleotide variantNM_001256545.2(MEGF10):c.918-80C>Gnot provided [RCV000831667]likely benign5127410309127410309Humanname
14743474CV660685single nucleotide variantNM_001256545.2(MEGF10):c.2104+7C>AMEGF10-related myopathy [RCV002068606]|not provided [RCV000842085]likely benign5127435496127435496Human1name
14743473CV660769single nucleotide variantNM_001256545.2(MEGF10):c.1840+9C>GMEGF10-related myopathy [RCV002067548]|not provided [RCV000842084]likely benign5127433518127433518Human1name
15167627CV730326single nucleotide variantNM_001256545.2(MEGF10):c.2857-8T>CMEGF10-related myopathy [RCV002065480]likely benign5127449091127449091Human1name , trait
15161261CV759346single nucleotide variantNM_001256545.2(MEGF10):c.2980+8C>Gnot provided [RCV000925649]likely benign5127449230127449230Humanname
15101097CV775129single nucleotide variantNM_001256545.2(MEGF10):c.2492-7T>CMEGF10-related myopathy [RCV000936736]likely benign5127445450127445450Human1name , trait
28891843CV896024single nucleotide variantNM_001256545.2(MEGF10):c.117-13C>GMEGF10-related myopathy [RCV001152943]uncertain significance5127339107127339107Human1name , trait
28888561CV896025single nucleotide variantNM_001256545.2(MEGF10):c.781-15T>CMEGF10-related myopathy [RCV001151807]conflicting interpretations of pathogenicity|uncertain significance5127402531127402531Human1name , trait
127278391CV1072130single nucleotide variantNM_001256545.2(MEGF10):c.2491+10C>GMEGF10-related myopathy [RCV001408449]likely benign5127443136127443136Human1name , trait
150335838CV1164924single nucleotide variantNM_001256545.2(MEGF10):c.218+188G>Cnot provided [RCV001530574]benign5127339409127339409Humanname
150331187CV1169072single nucleotide variantNM_001256545.2(MEGF10):c.3232+76T>Cnot provided [RCV001536377]likely benign5127455683127455683Humanname
150408036CV1176533single nucleotide variantNM_001256545.2(MEGF10):c.659+265A>Gnot provided [RCV001545762]likely benign5127397043127397043Humanname
150410890CV1176534single nucleotide variantNM_001256545.2(MEGF10):c.660-244T>Cnot provided [RCV001546878]likely benign5127398432127398432Humanname
150408557CV1176535single nucleotide variantNM_001256545.2(MEGF10):c.1591-89A>Gnot provided [RCV001545950]likely benign5127422581127422581Humanname
150414971CV1176536single nucleotide variantNM_001256545.2(MEGF10):c.2105-80T>Cnot provided [RCV001548370]likely benign5127438359127438359Humanname
150417524CV1179906single nucleotide variantNM_001256545.2(MEGF10):c.117-172C>Tnot provided [RCV001550166]likely benign5127338948127338948Humanname
150416276CV1179907single nucleotide variantNM_001256545.2(MEGF10):c.1975+60C>Tnot provided [RCV001549537]likely benign5127434881127434881Humanname
150426512CV1186816single nucleotide variantNM_001256545.2(MEGF10):c.413-328C>Gnot provided [RCV001559669]likely benign5127396204127396204Humanname
150407561CV1193507single nucleotide variantNM_001256545.2(MEGF10):c.412+127C>Gnot provided [RCV001572378]likely benign5127370129127370129Humanname
150416942CV1193508duplicationNM_001256545.2(MEGF10):c.917+230dupnot provided [RCV001568557]likely benign5127402904127402905Humanname
150432083CV1200528single nucleotide variantNM_001256545.2(MEGF10):c.412+135G>Tnot provided [RCV001581251]likely benign5127370137127370137Humanname
150486856CV1203365single nucleotide variantNM_001256545.2(MEGF10):c.659+153A>Cnot provided [RCV001591543]likely benign5127396931127396931Humanname
150460814CV1205827single nucleotide variantNM_001256545.2(MEGF10):c.3232+40T>Cnot provided [RCV001586784]likely benign5127455647127455647Humanname
150506467CV1212214single nucleotide variantNM_001256545.2(MEGF10):c.412+226G>Anot provided [RCV001596045]benign5127370228127370228Humanname
150482744CV1223475single nucleotide variantNM_001256545.2(MEGF10):c.3233-58T>Cnot provided [RCV001617188]benign5127457070127457070Humanname
150517214CV1226662single nucleotide variantNM_001256545.2(MEGF10):c.660-101A>Gnot provided [RCV001639756]benign5127398575127398575Humanname
150477062CV1251958single nucleotide variantNM_001256545.2(MEGF10):c.2362+64T>Gnot provided [RCV001672157]benign5127440931127440931Humanname
150513007CV1285021single nucleotide variantNM_001256545.2(MEGF10):c.1975+43C>Tnot provided [RCV001721890]benign5127434864127434864Humanname
152111997CV1520578single nucleotide variantNM_001256545.2(MEGF10):c.2233+15T>GMEGF10-related myopathy [RCV002196898]likely benign5127438582127438582Human1name , trait
152148612CV1528905single nucleotide variantNM_001256545.2(MEGF10):c.1693+17G>AMEGF10-related myopathy [RCV002101871]likely benign5127422789127422789Human1name , trait
152153129CV1545264single nucleotide variantNM_001256545.2(MEGF10):c.1694-11C>TMEGF10-related myopathy [RCV002139824]likely benign5127433352127433352Human1name , trait
152154546CV1550616single nucleotide variantNM_001256545.2(MEGF10):c.1840+20G>AMEGF10-related myopathy [RCV002140003]likely benign5127433529127433529Human1name , trait
152094953CV1561867single nucleotide variantNM_001256545.2(MEGF10):c.2728+17G>AMEGF10-related myopathy [RCV002194793]likely benign5127445710127445710Human1name , trait
152137536CV1563409single nucleotide variantNM_001256545.2(MEGF10):c.1694-19C>TMEGF10-related myopathy [RCV002200147]likely benign5127433344127433344Human1name , trait
152030161CV1566040single nucleotide variantNM_001256545.2(MEGF10):c.1840+11C>TMEGF10-related myopathy [RCV002086051]likely benign5127433520127433520Human1name , trait
152154560CV1579499single nucleotide variantNM_001256545.2(MEGF10):c.3025+16G>CMEGF10-related myopathy [RCV002158676]likely benign5127454626127454626Human1name , trait
152028468CV1586947single nucleotide variantNM_001256545.2(MEGF10):c.3026-14A>TMEGF10-related myopathy [RCV002085473]likely benign5127455387127455387Human1name , trait
152058622CV1597230single nucleotide variantNM_001256545.2(MEGF10):c.2104+20A>CMEGF10-related myopathy [RCV002128078]benign5127435509127435509Human1name , trait
152151098CV1598224single nucleotide variantNM_001256545.2(MEGF10):c.1590+16C>TMEGF10-related myopathy [RCV002121753]likely benign5127420223127420223Human1name , trait
152082855CV1608146single nucleotide variantNM_001256545.2(MEGF10):c.1975+20G>AMEGF10-related myopathy [RCV002193251]likely benign5127434841127434841Human1name , trait
152073479CV1615443single nucleotide variantNM_001256545.2(MEGF10):c.1426+19G>AMEGF10-related myopathy [RCV002091908]likely benign5127419259127419259Human1name , trait
152048472CV1622982single nucleotide variantNM_001256545.2(MEGF10):c.2492-16T>CMEGF10-related myopathy [RCV002126933]likely benign5127445441127445441Human1name , trait
152114066CV1624050single nucleotide variantNM_001256545.2(MEGF10):c.2492-15C>TMEGF10-related myopathy [RCV002134865]likely benign5127445442127445442Human1name , trait
152078104CV1632987single nucleotide variantNM_001256545.2(MEGF10):c.2234-10C>TMEGF10-related myopathy [RCV002170193]likely benign5127440729127440729Human1name , trait
152173235CV1637648single nucleotide variantNM_001256545.2(MEGF10):c.3025+14T>CMEGF10-related myopathy [RCV002162734]likely benign5127454624127454624Human1name , trait
152148389CV1640301single nucleotide variantNM_001256545.2(MEGF10):c.3025+16G>TMEGF10-related myopathy [RCV002157786]likely benign5127454626127454626Human1name , trait
152090611CV1654877single nucleotide variantNM_001256545.2(MEGF10):c.1693+11A>CMEGF10-related myopathy [RCV002212671]likely benign5127422783127422783Human1name , trait
155945965CV1875527single nucleotide variantNM_001256545.2(MEGF10):c.1694-16A>GMEGF10-related myopathy [RCV003073847]likely benign5127433347127433347Human1name , trait
156392381CV1879791single nucleotide variantNM_001256545.2(MEGF10):c.1693+16C>TMEGF10-related myopathy [RCV003068175]likely benign5127422788127422788Human1name , trait
155964929CV1882018single nucleotide variantNM_001256545.2(MEGF10):c.2857-20G>AMEGF10-related myopathy [RCV003074882]likely benign5127449079127449079Human1name , trait
156338600CV1902442single nucleotide variantNM_001256545.2(MEGF10):c.1306-10G>TMEGF10-related myopathy [RCV003090220]likely benign5127419110127419110Human1name , trait
156043665CV1927000single nucleotide variantNM_001256545.2(MEGF10):c.1694-15T>CMEGF10-related myopathy [RCV002637680]likely benign5127433348127433348Human1name , trait
156169558CV1930124single nucleotide variantNM_001256545.2(MEGF10):c.2857-14T>AMEGF10-related myopathy [RCV002624659]|MEGF10-related myopathy [RCV005034802]likely benign|uncertain significance5127449085127449085Human1name , trait
156389860CV1996137single nucleotide variantNM_001256545.2(MEGF10):c.1305+11A>GMEGF10-related myopathy [RCV002654269]likely benign5127417823127417823Human1name , trait
155913319CV2021825single nucleotide variantNM_001256545.2(MEGF10):c.1130+16C>GMEGF10-related myopathy [RCV002726959]likely benign5127410617127410617Human1name , trait
156128876CV2036462single nucleotide variantNM_001256545.2(MEGF10):c.2362+17G>TMEGF10-related myopathy [RCV002786089]likely benign5127440884127440884Human1name , trait
156229010CV2048584single nucleotide variantNM_001256545.2(MEGF10):c.1590+17G>AMEGF10-related myopathy [RCV002790920]likely benign5127420224127420224Human1name , trait
156090410CV2056968single nucleotide variantNM_001256545.2(MEGF10):c.3232+14A>CMEGF10-related myopathy [RCV002824162]likely benign5127455621127455621Human1name , trait
156180017CV2062368single nucleotide variantNM_001256545.2(MEGF10):c.2728+18A>GMEGF10-related myopathy [RCV002828273]likely benign5127445711127445711Human1name , trait
155978967CV2081815single nucleotide variantNM_001256545.2(MEGF10):c.1305+14G>AMEGF10-related myopathy [RCV002863673]likely benign5127417826127417826Human1name , trait
156245361CV2105594single nucleotide variantNM_001256545.2(MEGF10):c.3232+16C>GMEGF10-related myopathy [RCV002933350]likely benign5127455623127455623Human1name , trait
156002434CV2106848single nucleotide variantNM_001256545.2(MEGF10):c.1306-16A>GMEGF10-related myopathy [RCV002947856]likely benign5127419104127419104Human1name , trait
156115656CV2117521single nucleotide variantNM_001256545.2(MEGF10):c.2857-13A>TMEGF10-related myopathy [RCV002953296]likely benign5127449086127449086Human1name , trait
156233664CV2118306single nucleotide variantNM_001256545.2(MEGF10):c.3025+19G>CMEGF10-related myopathy [RCV002958607]likely benign5127454629127454629Human1name , trait
155959206CV2131670single nucleotide variantNM_001256545.2(MEGF10):c.1975+19C>TMEGF10-related myopathy [RCV002995069]likely benign5127434840127434840Human1name , trait
405026047CV2868344single nucleotide variantNM_001256545.2(MEGF10):c.2980+15C>TMEGF10-related myopathy [RCV003528994]likely benign5127449237127449237Human1name , trait
405026054CV2868376single nucleotide variantNM_001256545.2(MEGF10):c.2981-18T>AMEGF10-related myopathy [RCV003528995]likely benign5127454548127454548Human1name , trait
405028908CV2882111single nucleotide variantNM_001256545.2(MEGF10):c.1693+14A>TMEGF10-related myopathy [RCV003529250]likely benign5127422786127422786Human1name , trait
405031927CV2899207single nucleotide variantNM_001256545.2(MEGF10):c.1975+20G>CMEGF10-related myopathy [RCV003529502]likely benign5127434841127434841Human1name , trait
405016680CV2911497single nucleotide variantNM_001256545.2(MEGF10):c.2362+14T>CMEGF10-related myopathy [RCV003527801]likely benign5127440881127440881Human1name , trait
405016259CV2921606single nucleotide variantNM_001256545.2(MEGF10):c.2980+20G>AMEGF10-related myopathy [RCV003527775]likely benign5127449242127449242Human1name , trait
405016298CV2921921single nucleotide variantNM_001256545.2(MEGF10):c.2104+17A>TMEGF10-related myopathy [RCV003527780]likely benign5127435506127435506Human1name , trait
402484098CV2940019single nucleotide variantNM_001256545.2(MEGF10):c.3233-13T>CMEGF10-related myopathy [RCV003643105]likely benign5127457115127457115Human1name , trait
11587530CV297005microsatelliteNM_001256545.2(MEGF10):c.*3522CA[1]MEGF10-related myopathy [RCV000295912]likely benign5127460840127460841Humanname , trait
11595483CV300772single nucleotide variantNM_001256545.2(MEGF10):c.2980+14A>GMEGF10-related myopathy [RCV000371159]conflicting interpretations of pathogenicity|uncertain significance5127449236127449236Human1name , trait
402478489CV3036537single nucleotide variantNM_001256545.2(MEGF10):c.2363-10C>GMEGF10-related myopathy [RCV003642420]likely benign5127442988127442988Human1name , trait
402486626CV3074008single nucleotide variantNM_001256545.2(MEGF10):c.1841-20G>TMEGF10-related myopathy [RCV003643379]likely benign5127434667127434667Human1name , trait
405181645CV3147585single nucleotide variantNM_001256545.2(MEGF10):c.1694-17C>TMEGF10-related myopathy [RCV003842487]likely benign5127433346127433346Human1name , trait
405223028CV3158356single nucleotide variantNM_001256545.2(MEGF10):c.3026-20C>TMEGF10-related myopathy [RCV003863852]likely benign5127455381127455381Human1name , trait
405208517CV3162467single nucleotide variantNM_001256545.2(MEGF10):c.3026-17C>TMEGF10-related myopathy [RCV003861766]likely benign5127455384127455384Human1name , trait
405152236CV3162996single nucleotide variantNM_001256545.2(MEGF10):c.2104+14G>CMEGF10-related myopathy [RCV003856439]likely benign5127435503127435503Human1name , trait
405236210CV3166440single nucleotide variantNM_001256545.2(MEGF10):c.1840+16G>AMEGF10-related myopathy [RCV003853889]likely benign5127433525127433525Human1name , trait
405236035CV3168962single nucleotide variantNM_001256545.2(MEGF10):c.2856+13G>CMEGF10-related myopathy [RCV003866241]likely benign5127447697127447697Human1name , trait
12833016CV368213single nucleotide variantNM_001256545.2(MEGF10):c.1841-20G>AMEGF10-related myopathy [RCV002065023]|not specified [RCV000417691]benign5127434667127434667Human1name
597923821CV3748419single nucleotide variantNM_001256545.2(MEGF10):c.1427-15G>AMEGF10-related myopathy [RCV005075066]likely benign5127420029127420029Human1name , trait
597964565CV3754386single nucleotide variantNM_001256545.2(MEGF10):c.3025+19G>AMEGF10-related myopathy [RCV005082493]likely benign5127454629127454629Human1name , trait
597857312CV3769480single nucleotide variantNM_001256545.2(MEGF10):c.1306-12G>TMEGF10-related myopathy [RCV005105521]likely benign5127419108127419108Human1name , trait
597855425CV3816443single nucleotide variantNM_001256545.2(MEGF10):c.2492-18T>CMEGF10-related myopathy [RCV005146015]likely benign5127445439127445439Human1name , trait
597842795CV3831090single nucleotide variantNM_001256545.2(MEGF10):c.2856+20G>AMEGF10-related myopathy [RCV005172471]likely benign5127447704127447704Human1name , trait
597942455CV3847258single nucleotide variantNM_001256545.2(MEGF10):c.2234-20T>CMEGF10-related myopathy [RCV005188178]likely benign5127440719127440719Human1name , trait
597865429CV3861215single nucleotide variantNM_001256545.2(MEGF10):c.2980+17C>GMEGF10-related myopathy [RCV005196563]likely benign5127449239127449239Human1name , trait
13538408CV500947single nucleotide variantNM_001256545.2(MEGF10):c.1130+12C>TMEGF10-related myopathy [RCV002062943]|not specified [RCV000611794]likely benign5127410613127410613Human1name
13537776CV501110single nucleotide variantNM_001256545.2(MEGF10):c.1130+13T>CMEGF10-related myopathy [RCV002064298]|not specified [RCV000610872]likely benign5127410614127410614Human1name
13530021CV501128single nucleotide variantNM_001256545.2(MEGF10):c.2980+16G>AMEGF10-related myopathy [RCV002064299]|not specified [RCV000600533]likely benign5127449238127449238Human1name
13526422CV501265single nucleotide variantNM_001256545.2(MEGF10):c.1975+10G>AMEGF10-related disorder [RCV003935678]|MEGF10-related myopathy [RCV000649877]|not provided [RCV001697882]benign|likely benign|conflicting interpretations of pathogenicity5127434831127434831Human1name , trait , alternate_id
13622510CV520876single nucleotide variantNM_001256545.2(MEGF10):c.3232+10C>TMEGF10-related myopathy [RCV000649875]likely benign5127455617127455617Human1name , trait
14721349CV660495single nucleotide variantNM_001256545.2(MEGF10):c.-18-179A>Gnot provided [RCV000831636]likely benign5127331112127331112Humanname
14745352CV660497single nucleotide variantNM_001256545.2(MEGF10):c.218+155G>Anot provided [RCV000843311]benign5127339376127339376Humanname
14722178CV660499single nucleotide variantNM_001256545.2(MEGF10):c.413-267A>Gnot provided [RCV000831991]likely benign5127396265127396265Humanname
14732960CV660502single nucleotide variantNM_001256545.2(MEGF10):c.780+240G>Anot provided [RCV000836883]likely benign5127399036127399036Humanname
14721427CV660507single nucleotide variantNM_001256545.2(MEGF10):c.918-141G>Cnot provided [RCV000831665]likely benign5127410248127410248Humanname
14721444CV660524single nucleotide variantNM_001256545.2(MEGF10):c.2728+61T>Cnot provided [RCV000831672]benign5127445754127445754Humanname
14716080CV660675single nucleotide variantNM_001256545.2(MEGF10):c.319+206T>Cnot provided [RCV000829610]benign5127340836127340836Humanname
14745403CV660679single nucleotide variantNM_001256545.2(MEGF10):c.781-197A>Cnot provided [RCV000843335]benign5127402349127402349Humanname
14745400CV660753single nucleotide variantNM_001256545.2(MEGF10):c.319+232A>Gnot provided [RCV000843332]benign5127340862127340862Humanname
14719214CV660754single nucleotide variantNM_001256545.2(MEGF10):c.659+302T>Gnot provided [RCV000830678]benign5127397080127397080Humanname
14722658CV660758single nucleotide variantNM_001256545.2(MEGF10):c.780+224C>Tnot provided [RCV000832196]likely benign5127399020127399020Human1name
14722658CV660758single nucleotide variantNM_001256545.2(MEGF10):c.780+224C>Tnot provided [RCV000832196]likely benign5127399020127399021Human1name
14721424CV660764single nucleotide variantNM_001256545.2(MEGF10):c.918-148T>Cnot provided [RCV000831664]likely benign5127410241127410241Humanname
14721353CV660856single nucleotide variantNM_001256545.2(MEGF10):c.116+152G>Anot provided [RCV000831637]likely benign5127331576127331576Humanname
14745350CV660863single nucleotide variantNM_001256545.2(MEGF10):c.117-199A>Gnot provided [RCV000843310]benign5127338921127338921Humanname
14721441CV660884single nucleotide variantNM_001256545.2(MEGF10):c.2491+32C>Tnot provided [RCV000831671]benign5127443158127443158Humanname
150414349CV1190262single nucleotide variantNM_001256545.2(MEGF10):c.1841-283T>Cnot provided [RCV001567492]likely benign5127434404127434404Humanname
150414631CV1190263single nucleotide variantNM_001256545.2(MEGF10):c.1975+260C>Anot provided [RCV001567626]likely benign5127435081127435081Humanname
150417061CV1193509single nucleotide variantNM_001256545.2(MEGF10):c.1305+111C>Gnot provided [RCV001568608]likely benign5127417923127417923Humanname
150419386CV1193510single nucleotide variantNM_001256545.2(MEGF10):c.1427-197T>Anot provided [RCV001569662]likely benign5127419847127419847Humanname
150407592CV1193511single nucleotide variantNM_001256545.2(MEGF10):c.1694-278C>Gnot provided [RCV001572387]likely benign5127433085127433085Humanname
150416730CV1193512single nucleotide variantNM_001256545.2(MEGF10):c.3233-176A>Gnot provided [RCV001568470]likely benign5127456952127456952Humanname
150416723CV1197287single nucleotide variantNM_001256545.2(MEGF10):c.1426+124G>Anot provided [RCV001576002]likely benign5127419364127419364Humanname
150414795CV1197288single nucleotide variantNM_001256545.2(MEGF10):c.2491+210T>Anot provided [RCV001575117]likely benign5127443336127443336Humanname
150439194CV1201518single nucleotide variantNM_001256545.2(MEGF10):c.1590+114G>Anot provided [RCV001583330]likely benign5127420321127420321Humanname
150433806CV1204190single nucleotide variantNM_001256545.2(MEGF10):c.2981-272A>Gnot provided [RCV001581939]likely benign5127454294127454294Humanname
150496764CV1208638single nucleotide variantNM_001256545.2(MEGF10):c.1130+206A>Gnot provided [RCV001593854]likely benign5127410807127410807Humanname
150471952CV1209650single nucleotide variantNM_001256545.2(MEGF10):c.2104+252C>Tnot provided [RCV001588761]likely benign5127435741127435741Humanname
150503314CV1212455duplicationNM_001256545.2(MEGF10):c.1306-278dupnot provided [RCV001595330]benign5127418840127418841Humanname
150446749CV1215703single nucleotide variantNM_001256545.2(MEGF10):c.1131-280C>Anot provided [RCV001611296]benign5127417358127417358Humanname
150456073CV1220555single nucleotide variantNM_001256545.2(MEGF10):c.3026-125A>Tnot provided [RCV001612648]benign5127455276127455276Humanname
150485016CV1222616deletionNM_001256545.2(MEGF10):c.-19+8702delnot provided [RCV001617619]benign5127299746127299746Humanname
150501909CV1224328single nucleotide variantNM_001256545.2(MEGF10):c.2728+183G>Anot provided [RCV001620969]benign5127445876127445876Humanname
150517525CV1226976deletionNM_001256545.2(MEGF10):c.2857-292delnot provided [RCV001640072]benign5127448791127448791Humanname
150436564CV1270977duplicationNM_001256545.2(MEGF10):c.2857-292dupnot provided [RCV001689527]benign5127448790127448791Humanname
150497177CV1283507deletionNM_001256545.2(MEGF10):c.2104+163delnot provided [RCV001717809]benign5127435642127435642Humanname
150512998CV1285018single nucleotide variantNM_001256545.2(MEGF10):c.-19+8919G>Cnot provided [RCV001721887]benign5127299975127299975Humanname
150504120CV1285893single nucleotide variantNM_001256545.2(MEGF10):c.2856+181C>Anot provided [RCV001719316]benign5127447865127447865Humanname
12834218CV368122single nucleotide variantNM_001256545.2(MEGF10):c.-19+8943A>GMEGF10-related myopathy [RCV001151703]|not specified [RCV000419987]benign|likely benign5127299999127299999Human1name
12842520CV368124single nucleotide variantNM_001256545.2(MEGF10):c.-19+8977C>Tnot specified [RCV000434571]likely benign5127300033127300033Humanname
12846126CV369506single nucleotide variantNM_001256545.2(MEGF10):c.-19+8933A>Gnot specified [RCV000441072]likely benign5127299989127299989Humanname
598125957CV3883375single nucleotide variantNM_001256545.2(MEGF10):c.2233+758C>TCongenital myopathy 10b, mild variant [RCV005233246]likely pathogenic5127439325127439325Human1name
14745404CV660509single nucleotide variantNM_001256545.2(MEGF10):c.1130+141G>Anot provided [RCV000843336]benign5127410742127410742Humanname
14725050CV660523single nucleotide variantNM_001256545.2(MEGF10):c.1590+262T>Anot provided [RCV000833261]likely benign5127420469127420469Humanname
14724736CV660532single nucleotide variantNM_001256545.2(MEGF10):c.2729-279C>Tnot provided [RCV000833118]likely benign5127447278127447278Humanname
14722663CV660538single nucleotide variantNM_001256545.2(MEGF10):c.2981-165G>Anot provided [RCV000832198]likely benign5127454401127454401Humanname
14711957CV660671single nucleotide variantNM_001256545.2(MEGF10):c.-19+8927A>Tnot provided [RCV000828222]likely benign5127299983127299983Humanname
14719224CV660683single nucleotide variantNM_001256545.2(MEGF10):c.1590+296G>Cnot provided [RCV000830682]benign5127420503127420503Humanname
14724296CV660690single nucleotide variantNM_001256545.2(MEGF10):c.2857-329A>Gnot provided [RCV000832920]likely benign5127448770127448770Humanname
14721447CV660692single nucleotide variantNM_001256545.2(MEGF10):c.2980+249G>Cnot provided [RCV000831673]likely benign5127449471127449471Humanname
14724298CV660695single nucleotide variantNM_001256545.2(MEGF10):c.3025+253A>Gnot provided [RCV000832921]likely benign5127454863127454863Humanname
14722661CV660767single nucleotide variantNM_001256545.2(MEGF10):c.1693+181G>Anot provided [RCV000832197]likely benign5127422953127422953Humanname
14721439CV660773single nucleotide variantNM_001256545.2(MEGF10):c.2234-124T>Cnot provided [RCV000831670]benign5127440615127440615Humanname
14710995CV660774single nucleotide variantNM_001256545.2(MEGF10):c.2729-279C>Anot provided [RCV000827890]likely benign5127447278127447278Humanname
14719282CV660775single nucleotide variantNM_001256545.2(MEGF10):c.3026-252T>Gnot provided [RCV000830705]benign5127455149127455149Humanname
14724305CV660777single nucleotide variantNM_001256545.2(MEGF10):c.3233-299C>Tnot provided [RCV000832924]likely benign5127456829127456829Humanname
14724733CV660865single nucleotide variantNM_001256545.2(MEGF10):c.2105-322G>Tnot provided [RCV000833117]benign5127438117127438117Humanname
14719228CV660868single nucleotide variantNM_001256545.2(MEGF10):c.2105-272A>Cnot provided [RCV000830684]benign5127438167127438167Humanname
14721437CV660872single nucleotide variantNM_001256545.2(MEGF10):c.2105-103C>Tnot provided [RCV000831669]likely benign5127438336127438336Humanname
14724293CV660891single nucleotide variantNM_001256545.2(MEGF10):c.2491+303A>Gnot provided [RCV000832919]likely benign5127443429127443429Humanname
14724301CV660898single nucleotide variantNM_001256545.2(MEGF10):c.3026-272A>Gnot provided [RCV000832922]likely benign5127455129127455129Humanname
14722733CV660901single nucleotide variantNM_001256545.2(MEGF10):c.3232+220C>Gnot provided [RCV000832228]likely benign5127455827127455827Humanname
28888244CV896023single nucleotide variantNM_001256545.2(MEGF10):c.-19+8996T>GMEGF10-related myopathy [RCV001151704]uncertain significance5127300052127300052Human1name , trait
14724289CV660498microsatelliteNM_001256545.2(MEGF10):c.219-333GA[3]not provided [RCV000832917]benign5127340196127340197Humanname
597910059CV3854160deletionNM_001256545.2(MEGF10):c.481_659+98delMEGF10-related myopathy [RCV005203428]likely pathogenic5127396597127396873Human1name , trait
597881753CV3763872deletionNM_001256545.2(MEGF10):c.3228_3232+4delMEGF10-related myopathy [RCV005109272]uncertain significance5127455600127455608Human1name , trait
11583708CV296950insertionNM_001256545.2(MEGF10):c.117-5_117-4insCMEGF10-related myopathy [RCV000268694]|not provided [RCV001706568]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance5127339115127339116Human1name
15102364CV749177single nucleotide variantNM_001256545.2(MEGF10):c.15G>A (p.Leu5=)not provided [RCV000914953]likely benign5127331323127331323Humanname
127235695CV1072125single nucleotide variantNM_001256545.2(MEGF10):c.99G>A (p.Val33=)MEGF10-related myopathy [RCV001414532]likely benign5127331407127331407Human1name , trait
127270158CV1093722single nucleotide variantNM_001256545.2(MEGF10):c.90C>T (p.Asp30=)MEGF10-related myopathy [RCV001430521]likely benign5127331398127331398Human1name , trait
127325841CV1136201single nucleotide variantNM_001256545.2(MEGF10):c.42A>G (p.Leu14=)MEGF10-related myopathy [RCV001506118]likely benign5127331350127331350Human1name , trait
8580344CV114774single nucleotide variantNM_032446.2(MEGF10):c.2373A>C (p.Ser791=)Lung cancer [RCV000095297]uncertain significance5127443008127443008Humanname
150496721CV1283399microsatelliteNM_001256545.2(MEGF10):c.3232+117TATTT[7]not provided [RCV001717725]benign5127455723127455724Humanname
152101077CV1648968single nucleotide variantNM_001256545.2(MEGF10):c.51C>T (p.Cys17=)MEGF10-related myopathy [RCV002214014]likely benign5127331359127331359Human1name , trait
152029789CV1653478single nucleotide variantNM_001256545.2(MEGF10):c.66A>G (p.Thr22=)MEGF10-related myopathy [RCV002085923]likely benign5127331374127331374Human1name , trait
156074500CV2086427single nucleotide variantNM_001256545.2(MEGF10):c.99G>T (p.Val33=)MEGF10-related myopathy [RCV002847179]likely benign5127331407127331407Human1name , trait
156374910CV2190920single nucleotide variantNM_001256545.2(MEGF10):c.3G>T (p.Met1Ile)MEGF10-related myopathy [RCV003050019]uncertain significance5127331311127331311Human1name , trait
402493130CV2996007deletionNM_001256545.2(MEGF10):c.319+13_319+14delMEGF10-related myopathy [RCV003644055]likely benign5127340642127340643Human1name , trait
402495982CV3022270deletionNM_001256545.2(MEGF10):c.219-18_219-14delMEGF10-related myopathy [RCV003644373]likely benign5127340512127340516Human1name , trait
407502466CV3449747single nucleotide variantNM_001256545.2(MEGF10):c.4G>A (p.Val2Ile)Inborn genetic diseases [RCV004645154]uncertain significance5127331312127331312Human1name
597850021CV3803185single nucleotide variantNM_001256545.2(MEGF10):c.96T>C (p.Asn32=)MEGF10-related myopathy [RCV005145302]likely benign5127331404127331404Human1name , trait
15169428CV749178single nucleotide variantNM_001256545.2(MEGF10):c.81T>C (p.Asn27=)MEGF10-related myopathy [RCV001463109]likely benign5127331389127331389Human1name , trait
152073989CV1570325single nucleotide variantNM_001256545.2(MEGF10):c.183T>C (p.Thr61=)MEGF10-related myopathy [RCV002210349]likely benign5127339186127339186Human1name , trait
152159410CV1588047microsatelliteNM_001256545.2(MEGF10):c.2492-10_2492-8delMEGF10-related myopathy [RCV002180662]likely benign5127445443127445445Humanname , trait
152054710CV1633096single nucleotide variantNM_001256545.2(MEGF10):c.171C>T (p.Tyr57=)MEGF10-related myopathy [RCV002127636]likely benign5127339174127339174Human1name , trait
155999374CV2057333single nucleotide variantNM_001256545.2(MEGF10):c.165T>A (p.Ile55=)MEGF10-related myopathy [RCV002819574]likely benign5127339168127339168Human1name , trait
156390827CV2118619single nucleotide variantNM_001256545.2(MEGF10):c.147A>G (p.Pro49=)MEGF10-related myopathy [RCV002943888]likely benign5127339150127339150Human1name , trait
11552298CV251617single nucleotide variantNM_001256545.2(MEGF10):c.156T>C (p.Phe52=)not specified [RCV000254191]likely benign5127339159127339159Humanname
11549700CV251618single nucleotide variantNM_001256545.2(MEGF10):c.174G>A (p.Thr58=)MEGF10-related myopathy [RCV000327167]|not specified [RCV000250753]benign|likely benign|conflicting interpretations of pathogenicity5127339177127339177Human1name
401897206CV2789902single nucleotide variantNM_001256545.2(MEGF10):c.19T>C (p.Ser7Pro)Inborn genetic diseases [RCV003374824]uncertain significance5127331327127331327Human1name
401917828CV2827966single nucleotide variantNM_001256545.2(MEGF10):c.249G>A (p.Gly83=)MEGF10-related myopathy [RCV003778430]|not provided [RCV003429748]likely benign5127340560127340560Human1name
402478001CV3170207single nucleotide variantNM_001256545.2(MEGF10):c.129T>C (p.Thr43=)MEGF10-related myopathy [RCV003875595]likely benign5127339132127339132Human1name , trait
405229151CV3180382single nucleotide variantNM_001256545.2(MEGF10):c.168C>T (p.Tyr56=)MEGF10-related myopathy [RCV003864802]likely benign5127339171127339171Human1name , trait
597956410CV3754630single nucleotide variantNM_001256545.2(MEGF10):c.162A>G (p.Gln54=)MEGF10-related myopathy [RCV005080480]likely benign5127339165127339165Human1name , trait
597951913CV3815661single nucleotide variantNM_001256545.2(MEGF10):c.144C>T (p.Tyr48=)MEGF10-related myopathy [RCV005161414]likely benign5127339147127339147Human1name , trait
597922408CV3843245single nucleotide variantNM_001256545.2(MEGF10):c.24C>A (p.Cys8Ter)MEGF10-related myopathy [RCV005184537]pathogenic5127331332127331332Human1name , trait
13526811CV501255single nucleotide variantNM_001256545.2(MEGF10):c.120C>T (p.Tyr40=)MEGF10-related myopathy [RCV000877569]|not specified [RCV000604641]likely benign5127339123127339123Human1name
15134735CV691665single nucleotide variantNM_001256545.2(MEGF10):c.210G>A (p.Thr70=)MEGF10-related disorder [RCV003938370]|MEGF10-related myopathy [RCV001471481]likely benign5127339213127339213Human1name , trait , alternate_id
15175510CV709604single nucleotide variantNM_001256545.2(MEGF10):c.174G>T (p.Thr58=)MEGF10-related disorder [RCV003962901]|MEGF10-related myopathy [RCV000972967]|not provided [RCV001547366]likely benign5127339177127339177Human1name , trait , alternate_id
126915874CV1043209single nucleotide variantNM_001256545.2(MEGF10):c.918G>A (p.Arg306=)MEGF10-related disorder [RCV003908552]|MEGF10-related myopathy [RCV001371174]likely benign|uncertain significance5127410389127410389Human1name , trait , alternate_id
127244758CV1072127single nucleotide variantNM_001256545.2(MEGF10):c.480C>T (p.Cys160=)MEGF10-related myopathy [RCV001398609]likely benign5127396599127396599Human1name , trait
127240346CV1093723single nucleotide variantNM_001256545.2(MEGF10):c.414C>T (p.Ala138=)MEGF10-related myopathy [RCV001434211]likely benign5127396533127396533Human1name , trait
127299539CV1115251single nucleotide variantNM_001256545.2(MEGF10):c.492C>T (p.Thr164=)MEGF10-related myopathy [RCV001460848]likely benign5127396611127396611Human1name , trait
127301023CV1115252single nucleotide variantNM_001256545.2(MEGF10):c.567C>T (p.Asn189=)MEGF10-related myopathy [RCV001461266]likely benign5127396686127396686Human1name , trait
150437905CV1201329deletionNM_001256545.2(MEGF10):c.320-134_320-130delnot provided [RCV001583141]likely benign5127369773127369777Humanname
151821160CV1338430single nucleotide variantNM_001256545.2(MEGF10):c.534C>T (p.Cys178=)MEGF10-related myopathy [RCV001900898]uncertain significance5127396653127396653Human1name , trait
151848184CV1352991single nucleotide variantNM_001256545.2(MEGF10):c.88G>C (p.Asp30His)MEGF10-related myopathy [RCV001922411]uncertain significance5127331396127331396Human1name , trait
152115942CV1553992single nucleotide variantNM_001256545.2(MEGF10):c.891T>C (p.His297=)MEGF10-related myopathy [RCV002117189]likely benign5127402656127402656Human1name , trait
152093667CV1561646single nucleotide variantNM_001256545.2(MEGF10):c.912G>A (p.Gly304=)MEGF10-related myopathy [RCV002194625]likely benign5127402677127402677Human1name , trait
152071111CV1638713single nucleotide variantNM_001256545.2(MEGF10):c.369C>T (p.Thr123=)MEGF10-related myopathy [RCV002075115]likely benign5127369959127369959Human1name , trait
156284911CV2061660single nucleotide variantNM_001256545.2(MEGF10):c.699G>A (p.Gln233=)MEGF10-related myopathy [RCV002832971]likely benign5127398715127398715Human1name , trait
156264567CV2128991single nucleotide variantNM_001256545.2(MEGF10):c.513G>A (p.Ala171=)MEGF10-related myopathy [RCV002934005]likely benign|uncertain significance5127396632127396632Human1name , trait
156244311CV2173589single nucleotide variantNM_001256545.2(MEGF10):c.68C>A (p.Ala23Glu)MEGF10-related myopathy [RCV003043558]uncertain significance5127331376127331376Human1name , trait
11544907CV251621single nucleotide variantNM_001256545.2(MEGF10):c.588G>A (p.Gln196=)MEGF10-related myopathy [RCV000281307]|not specified [RCV000244420]benign|likely benign5127396707127396707Human1name
11548669CV251622single nucleotide variantNM_001256545.2(MEGF10):c.609C>T (p.Cys203=)MEGF10-related myopathy [RCV000320027]|not provided [RCV002262904]|not specified [RCV000249391]benign|conflicting interpretations of pathogenicity|uncertain significance5127396728127396728Human1name
11548322CV251625single nucleotide variantNM_001256545.2(MEGF10):c.984C>T (p.Asn328=)MEGF10-related myopathy [RCV000528430]|not provided [RCV004705120]|not specified [RCV000248940]benign|likely benign5127410455127410455Human1name
405026415CV2868954single nucleotide variantNM_001256545.2(MEGF10):c.651C>T (p.Thr217=)MEGF10-related myopathy [RCV003529027]likely benign5127396770127396770Human1name , trait
405016267CV2921650single nucleotide variantNM_001256545.2(MEGF10):c.621G>A (p.Thr207=)MEGF10-related myopathy [RCV003527776]likely benign5127396740127396740Human1name , trait
11590656CV300732single nucleotide variantNM_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 significance5127396608127396608Human1name , trait , alternate_id
402486917CV3071610single nucleotide variantNM_001256545.2(MEGF10):c.975G>A (p.Gln325=)MEGF10-related myopathy [RCV003643415]likely benign5127410446127410446Human1name , trait
402487272CV3080580single nucleotide variantNM_001256545.2(MEGF10):c.888T>C (p.Cys296=)MEGF10-related myopathy [RCV003643457]likely benign5127402653127402653Human1name , trait
405198894CV3164518single nucleotide variantNM_001256545.2(MEGF10):c.475C>T (p.Leu159=)MEGF10-related disorder [RCV003893526]|MEGF10-related myopathy [RCV003860575]likely benign5127396594127396594Human1name , trait , alternate_id
402467931CV3174212single nucleotide variantNM_001256545.2(MEGF10):c.519C>T (p.Phe173=)MEGF10-related myopathy [RCV003873495]likely benign5127396638127396638Human1name , trait
402487069CV3181874single nucleotide variantNM_001256545.2(MEGF10):c.651C>G (p.Thr217=)MEGF10-related myopathy [RCV003876543]likely benign5127396770127396770Human1name , trait
405285136CV3202495single nucleotide variantNM_001256545.2(MEGF10):c.606C>T (p.Thr202=)MEGF10-related disorder [RCV003909757]likely benign5127396725127396725Humanname , trait , alternate_id
12847254CV368209single nucleotide variantNM_001256545.2(MEGF10):c.303C>T (p.Ser101=)MEGF10-related myopathy [RCV000543585]|not provided [RCV001704368]benign|likely benign|conflicting interpretations of pathogenicity5127340614127340614Human1name
12838177CV368210single nucleotide variantNM_001256545.2(MEGF10):c.807C>T (p.Pro269=)MEGF10-related disorder [RCV003942387]|MEGF10-related myopathy [RCV000649871]|not provided [RCV001703862]likely benign5127402572127402572Human1name , trait , alternate_id
12836669CV369509single nucleotide variantNM_001256545.2(MEGF10):c.59T>C (p.Ile20Thr)Inborn genetic diseases [RCV005372305]|MEGF10-related myopathy [RCV000699532]|not specified [RCV000423815]likely benign|uncertain significance5127331367127331367Human2name
12837322CV369514single nucleotide variantNM_001256545.2(MEGF10):c.522G>A (p.Arg174=)MEGF10-related myopathy [RCV000877324]|not specified [RCV000424962]benign|likely benign|conflicting interpretations of pathogenicity5127396641127396641Human1name
597836609CV3739869single nucleotide variantNM_001256545.2(MEGF10):c.44T>A (p.Leu15Ter)MEGF10-related myopathy [RCV005064089]pathogenic5127331352127331352Human1name , trait
597942352CV3815629single nucleotide variantNM_001256545.2(MEGF10):c.879A>C (p.Thr293=)MEGF10-related myopathy [RCV005159318]likely benign5127402644127402644Human1name , trait
597832895CV3831384single nucleotide variantNM_001256545.2(MEGF10):c.570C>T (p.Asp190=)MEGF10-related myopathy [RCV005170587]likely benign5127396689127396689Human1name , trait
597896607CV3854082single nucleotide variantNM_001256545.2(MEGF10):c.486C>G (p.Pro162=)MEGF10-related myopathy [RCV005201366]likely benign5127396605127396605Human1name , trait
12893710CV406611duplicationNM_001256545.2(MEGF10):c.217dup (p.Arg73fs)not provided [RCV000479936]likely pathogenic5127339219127339220Humanname
13488248CV454986single nucleotide variantNM_001256545.2(MEGF10):c.750T>C (p.Thr250=)MEGF10-related myopathy [RCV000554703]likely benign5127398766127398766Human1name , trait
13526440CV500631single nucleotide variantNM_001256545.2(MEGF10):c.786A>G (p.Thr262=)MEGF10-related myopathy [RCV001868046]|not specified [RCV000604174]likely benign|uncertain significance5127402551127402551Human1name
13540140CV500944single nucleotide variantNM_001256545.2(MEGF10):c.930G>A (p.Glu310=)MEGF10-related myopathy [RCV002064218]|not specified [RCV000614288]likely benign5127410401127410401Human1name
13622502CV520451single nucleotide variantNM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr)MEGF10-related myopathy [RCV000649865]|not provided [RCV001556377]conflicting interpretations of pathogenicity|uncertain significance5127331358127331358Human1name
13622508CV520452single nucleotide variantNM_001256545.2(MEGF10):c.864G>A (p.Thr288=)MEGF10-related myopathy [RCV000649872]likely benign5127402629127402629Human1name , trait
14711463CV655628single nucleotide variantNM_001256545.2(MEGF10):c.789G>T (p.Val263=)not provided [RCV000828051]likely benign5127402554127402554Humanname
26914506CV829901single nucleotide variantNM_001256545.2(MEGF10):c.520C>A (p.Arg174=)MEGF10-related myopathy [RCV001040705]likely benign|uncertain significance5127396639127396639Human1name , trait
28898800CV892752single nucleotide variantNM_001256545.2(MEGF10):c.417C>T (p.Cys139=)MEGF10-related myopathy [RCV001155579]conflicting interpretations of pathogenicity|uncertain significance5127396536127396536Human1name , trait
28888564CV892756single nucleotide variantNM_001256545.2(MEGF10):c.789G>A (p.Val263=)MEGF10-related myopathy [RCV001151808]conflicting interpretations of pathogenicity|uncertain significance5127402554127402554Human1name , trait
28888569CV892757single nucleotide variantNM_001256545.2(MEGF10):c.951C>T (p.Gly317=)MEGF10-related myopathy [RCV001151809]conflicting interpretations of pathogenicity|uncertain significance5127410422127410422Human1name , trait
28888573CV892758single nucleotide variantNM_001256545.2(MEGF10):c.954T>C (p.Val318=)MEGF10-related myopathy [RCV001151810]conflicting interpretations of pathogenicity|uncertain significance5127410425127410425Human1name , trait
127238966CV1060202single nucleotide variantNM_001256545.2(MEGF10):c.240T>G (p.Tyr80Ter)MEGF10-related myopathy [RCV001383136]pathogenic5127340551127340551Human1name , trait
127237197CV1072129single nucleotide variantNM_001256545.2(MEGF10):c.2478G>A (p.Ala826=)MEGF10-related myopathy [RCV001392252]likely benign5127443113127443113Human1name , trait
127246535CV1072131single nucleotide variantNM_001256545.2(MEGF10):c.2547C>G (p.Leu849=)MEGF10-related myopathy [RCV001416757]likely benign5127445512127445512Human1name , trait
127276301CV1093724single nucleotide variantNM_001256545.2(MEGF10):c.1134T>C (p.Cys378=)MEGF10-related myopathy [RCV001443753]likely benign5127417641127417641Human1name , trait
127265749CV1093725single nucleotide variantNM_001256545.2(MEGF10):c.1404C>T (p.Asp468=)MEGF10-related myopathy [RCV001429184]likely benign5127419218127419218Human1name , trait
127268729CV1093726single nucleotide variantNM_001256545.2(MEGF10):c.1548T>C (p.Cys516=)MEGF10-related myopathy [RCV001430065]likely benign5127420165127420165Human1name , trait
127232221CV1093727single nucleotide variantNM_001256545.2(MEGF10):c.1905C>T (p.Ser635=)MEGF10-related myopathy [RCV001421221]likely benign5127434751127434751Human1name , trait
127258459CV1093728single nucleotide variantNM_001256545.2(MEGF10):c.1926C>T (p.Thr642=)MEGF10-related myopathy [RCV001438125]likely benign5127434772127434772Human1name , trait
127239836CV1093729single nucleotide variantNM_001256545.2(MEGF10):c.2796G>A (p.Thr932=)MEGF10-related myopathy [RCV001434069]likely benign5127447624127447624Human1name , trait
127276884CV1093730single nucleotide variantNM_001256545.2(MEGF10):c.2871A>G (p.Gln957=)MEGF10-related myopathy [RCV001444081]likely benign5127449113127449113Human1name , trait
127294114CV1115253single nucleotide variantNM_001256545.2(MEGF10):c.1914C>T (p.Cys638=)MEGF10-related myopathy [RCV001452170]likely benign5127434760127434760Human1name , trait
127294229CV1115254single nucleotide variantNM_001256545.2(MEGF10):c.2106A>G (p.Pro702=)MEGF10-related myopathy [RCV001476747]likely benign5127438440127438440Human1name , trait
127318630CV1115255single nucleotide variantNM_001256545.2(MEGF10):c.2265T>C (p.Cys755=)MEGF10-related myopathy [RCV001466284]likely benign5127440770127440770Human1name , trait
127304820CV1136204single nucleotide variantNM_001256545.2(MEGF10):c.1893C>T (p.Cys631=)MEGF10-related myopathy [RCV001499750]likely benign5127434739127434739Human1name , trait
127303146CV1136205single nucleotide variantNM_001256545.2(MEGF10):c.2799C>T (p.Leu933=)MEGF10-related myopathy [RCV001499290]|not provided [RCV004707631]likely benign5127447627127447627Human1name
150334119CV1171322deletionNM_001256545.2(MEGF10):c.1975+96_1975+118delnot provided [RCV001539798]benign5127434913127434935Humanname
151808389CV1337225single nucleotide variantNM_001256545.2(MEGF10):c.229C>T (p.Arg77Trp)MEGF10-related myopathy [RCV002028732]uncertain significance5127340540127340540Human1name , trait
151862429CV1365081single nucleotide variantNM_001256545.2(MEGF10):c.1536G>T (p.Gly512=)MEGF10-related myopathy [RCV002017919]likely benign|uncertain significance5127420153127420153Human1name , trait
151832207CV1396107single nucleotide variantNM_001256545.2(MEGF10):c.1011C>T (p.Gly337=)MEGF10-related myopathy [RCV001901919]likely benign|uncertain significance5127410482127410482Human1name , trait
151758007CV1438825deletionNM_001256545.2(MEGF10):c.815del (p.Arg272fs)MEGF10-related myopathy [RCV002007533]pathogenic5127402580127402580Human1name , trait
151839836CV1487682single nucleotide variantNM_001256545.2(MEGF10):c.1710C>T (p.Ser570=)MEGF10-related myopathy [RCV001935971]likely benign|uncertain significance5127433379127433379Human1name , trait
152127288CV1533978single nucleotide variantNM_001256545.2(MEGF10):c.2397C>A (p.Arg799=)MEGF10-related myopathy [RCV002136478]likely benign5127443032127443032Human1name , trait
152068458CV1535113single nucleotide variantNM_001256545.2(MEGF10):c.2079T>C (p.Gly693=)MEGF10-related disorder [RCV004757510]|MEGF10-related myopathy [RCV002091255]likely benign5127435464127435464Human1name , trait , alternate_id
152162904CV1537475single nucleotide variantNM_001256545.2(MEGF10):c.2694T>C (p.Ala898=)MEGF10-related myopathy [RCV002159962]likely benign5127445659127445659Human1name , trait
152089240CV1541533single nucleotide variantNM_001256545.2(MEGF10):c.1266C>T (p.Asp422=)MEGF10-related myopathy [RCV002171607]likely benign5127417773127417773Human1name , trait
152152160CV1545722single nucleotide variantNM_001256545.2(MEGF10):c.1653C>T (p.His551=)MEGF10-related myopathy [RCV002179621]likely benign5127422732127422732Human1name , trait
152063127CV1554259single nucleotide variantNM_001256545.2(MEGF10):c.2457C>T (p.Cys819=)MEGF10-related myopathy [RCV002190771]likely benign5127443092127443092Human1name , trait
152084985CV1554989single nucleotide variantNM_001256545.2(MEGF10):c.2622A>G (p.Ala874=)MEGF10-related myopathy [RCV002211922]likely benign5127445587127445587Human1name , trait
152161730CV1555496single nucleotide variantNM_001256545.2(MEGF10):c.2391C>T (p.Gly797=)MEGF10-related myopathy [RCV002103926]likely benign5127443026127443026Human1name , trait
152117798CV1556373single nucleotide variantNM_001256545.2(MEGF10):c.2019T>C (p.Cys673=)MEGF10-related myopathy [RCV002216371]likely benign5127435404127435404Human1name , trait
152121527CV1562515single nucleotide variantNM_001256545.2(MEGF10):c.2751T>C (p.Gly917=)MEGF10-related myopathy [RCV002098220]likely benign5127447579127447579Human1name , trait
152124124CV1587367single nucleotide variantNM_001256545.2(MEGF10):c.1698C>A (p.Val566=)MEGF10-related myopathy [RCV002136096]likely benign5127433367127433367Human1name , trait
152052573CV1607263single nucleotide variantNM_001256545.2(MEGF10):c.1647C>T (p.Gly549=)MEGF10-related myopathy [RCV002109162]likely benign5127422726127422726Human1name , trait
152076446CV1616955single nucleotide variantNM_001256545.2(MEGF10):c.2151C>T (p.Asn717=)MEGF10-related myopathy [RCV002210659]likely benign5127438485127438485Human1name , trait
152114487CV1659638single nucleotide variantNM_001256545.2(MEGF10):c.2301C>T (p.Cys767=)MEGF10-related myopathy [RCV002080703]likely benign5127440806127440806Human1name , trait
155709904CV1775771single nucleotide variantNM_001256545.2(MEGF10):c.195C>G (p.Asn65Lys)MEGF10-related myopathy [RCV002296152]uncertain significance5127339198127339198Human1name , trait
156270285CV1870676single nucleotide variantNM_001256545.2(MEGF10):c.2703C>T (p.Val901=)MEGF10-related myopathy [RCV003060690]likely benign5127445668127445668Human1name , trait
156052063CV1878655single nucleotide variantNM_001256545.2(MEGF10):c.2028C>G (p.Thr676=)MEGF10-related myopathy [RCV003053035]likely benign5127435413127435413Human1name , trait
156329755CV1884258single nucleotide variantNM_001256545.2(MEGF10):c.149A>G (p.His50Arg)MEGF10-related myopathy [RCV003089719]uncertain significance5127339152127339152Human1name , trait
156285918CV1900538single nucleotide variantNM_001256545.2(MEGF10):c.241C>T (p.Arg81Ter)MEGF10-related myopathy [RCV002598556]pathogenic5127340552127340552Human1name , trait
156365548CV1906192single nucleotide variantNM_001256545.2(MEGF10):c.157G>T (p.Asp53Tyr)MEGF10-related myopathy [RCV003092027]uncertain significance5127339160127339160Human1name , trait
156165927CV1929973single nucleotide variantNM_001256545.2(MEGF10):c.2979C>T (p.Leu993=)MEGF10-related myopathy [RCV002624549]uncertain significance5127449221127449221Human1name , trait
155912890CV1935382single nucleotide variantNM_001256545.2(MEGF10):c.268C>T (p.Arg90Cys)MEGF10-related myopathy [RCV002510715]uncertain significance5127340579127340579Human1name , trait
156440442CV1943567single nucleotide variantNM_001256545.2(MEGF10):c.2733C>A (p.Thr911=)MEGF10-related myopathy [RCV003110476]likely benign5127447561127447561Human1name , trait
156150458CV1967424single nucleotide variantNM_001256545.2(MEGF10):c.1845C>T (p.Cys615=)MEGF10-related myopathy [RCV002594128]likely benign5127434691127434691Human1name , trait
156417215CV1970261single nucleotide variantNM_001256545.2(MEGF10):c.1644T>C (p.Asp548=)MEGF10-related myopathy [RCV002590074]likely benign5127422723127422723Human1name , trait
156213169CV2018970single nucleotide variantNM_001256545.2(MEGF10):c.2460C>T (p.Ser820=)MEGF10-related myopathy [RCV002700705]likely benign5127443095127443095Human1name , trait
155995986CV2034951single nucleotide variantNM_001256545.2(MEGF10):c.197G>T (p.Trp66Leu)MEGF10-related myopathy [RCV002755962]uncertain significance5127339200127339200Human1name , trait
156174807CV2071946single nucleotide variantNM_001256545.2(MEGF10):c.185A>G (p.Asp62Gly)MEGF10-related myopathy [RCV002851646]uncertain significance5127339188127339188Human1name , trait
155912248CV2081251single nucleotide variantNM_001256545.2(MEGF10):c.1476C>T (p.Gly492=)MEGF10-related myopathy [RCV002858579]likely benign5127420093127420093Human1name , trait
155913452CV2081549single nucleotide variantNM_001256545.2(MEGF10):c.1857T>C (p.Phe619=)MEGF10-related myopathy [RCV002858657]likely benign5127434703127434703Human1name , trait
156236592CV2090224single nucleotide variantNM_001256545.2(MEGF10):c.2760T>G (p.Ala920=)MEGF10-related myopathy [RCV002894760]likely benign5127447588127447588Human1name , trait
156332924CV2091090single nucleotide variantNM_001256545.2(MEGF10):c.268C>A (p.Arg90Ser)MEGF10-related myopathy [RCV002900038]uncertain significance5127340579127340579Human1name , trait
156047545CV2091284single nucleotide variantNM_001256545.2(MEGF10):c.2187G>A (p.Gly729=)MEGF10-related myopathy [RCV002886047]uncertain significance5127438521127438521Human1name , trait
156035458CV2097704single nucleotide variantNM_001256545.2(MEGF10):c.2709T>C (p.Asn903=)MEGF10-related myopathy [RCV002885585]likely benign5127445674127445674Human1name , trait
156008927CV2099924single nucleotide variantNM_001256545.2(MEGF10):c.1491A>G (p.Leu497=)MEGF10-related myopathy [RCV002908997]likely benign5127420108127420108Human1name , trait
156152475CV2101418single nucleotide variantNM_001256545.2(MEGF10):c.173C>T (p.Thr58Met)MEGF10-related myopathy [RCV002890699]uncertain significance5127339176127339176Human1name , trait
156247913CV2106378single nucleotide variantNM_001256545.2(MEGF10):c.2112A>G (p.Pro704=)MEGF10-related myopathy [RCV002933439]likely benign5127438446127438446Human1name , trait
156248806CV2106440single nucleotide variantNM_001256545.2(MEGF10):c.2181C>T (p.Tyr727=)MEGF10-related myopathy [RCV002933470]likely benign5127438515127438515Human1name , trait
156027001CV2131376single nucleotide variantNM_001256545.2(MEGF10):c.1167G>A (p.Pro389=)MEGF10-related myopathy [RCV002976434]likely benign5127417674127417674Human1name , trait
155978085CV2132552single nucleotide variantNM_001256545.2(MEGF10):c.1509C>T (p.Asn503=)MEGF10-related myopathy [RCV002995957]likely benign5127420126127420126Human1name , trait
156215322CV2135911single nucleotide variantNM_001256545.2(MEGF10):c.1281G>A (p.Lys427=)MEGF10-related myopathy [RCV003007156]likely benign5127417788127417788Human1name , trait
155912899CV2153450single nucleotide variantNM_001256545.2(MEGF10):c.2928C>T (p.Cys976=)MEGF10-related myopathy [RCV003012384]likely benign5127449170127449170Human1name , trait
329400846CV2449759single nucleotide variantNM_001256545.2(MEGF10):c.273G>C (p.Lys91Asn)Inborn genetic diseases [RCV003197872]uncertain significance5127340584127340584Human1name
11546336CV251627single nucleotide variantNM_001256545.2(MEGF10):c.1114C>T (p.Leu372=)MEGF10-related myopathy [RCV000305410]|not specified [RCV000246324]benign5127410585127410585Human1name
11546257CV251628single nucleotide variantNM_001256545.2(MEGF10):c.1626C>T (p.Cys542=)MEGF10-related myopathy [RCV000556931]|not provided [RCV001310866]|not specified [RCV000246222]likely benign|conflicting interpretations of pathogenicity5127422705127422705Human1name
11543385CV251629single nucleotide variantNM_001256545.2(MEGF10):c.1785T>C (p.Pro595=)MEGF10-related myopathy [RCV000386947]|not specified [RCV000242386]benign|likely benign5127433454127433454Human1name
11545913CV251630single nucleotide variantNM_001256545.2(MEGF10):c.1839G>A (p.Arg613=)MEGF10-related myopathy [RCV000797802]|not provided [RCV001547596]|not specified [RCV000245778]likely benign|uncertain significance5127433508127433508Human1name
11549348CV251631single nucleotide variantNM_001256545.2(MEGF10):c.2034C>T (p.Asn678=)MEGF10-related myopathy [RCV000558316]|not provided [RCV004705117]|not specified [RCV000250302]benign|likely benign5127435419127435419Human1name
11543305CV251632single nucleotide variantNM_001256545.2(MEGF10):c.2076C>T (p.Pro692=)MEGF10-related myopathy [RCV000534483]|not provided [RCV004706741]|not specified [RCV000242283]benign|likely benign5127435461127435461Human1name
11546763CV251633single nucleotide variantNM_001256545.2(MEGF10):c.2145G>A (p.Thr715=)MEGF10-related myopathy [RCV001479498]|not specified [RCV000246881]likely benign5127438479127438479Human1name
11546681CV251634single nucleotide variantNM_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 significance5127438533127438533Human1name
11643727CV274901single nucleotide variantNM_001256545.2(MEGF10):c.130G>A (p.Val44Met)not provided [RCV000398255]uncertain significance5127339133127339133Humanname
401915010CV2827967single nucleotide variantNM_001256545.2(MEGF10):c.2847T>C (p.Thr949=)not provided [RCV003428593]likely benign5127447675127447675Humanname
405024446CV2859769single nucleotide variantNM_001256545.2(MEGF10):c.2961C>A (p.Gly987=)MEGF10-related myopathy [RCV003528852]likely benign5127449203127449203Human1name , trait
405017049CV2922284single nucleotide variantNM_001256545.2(MEGF10):c.1545G>A (p.Thr515=)MEGF10-related myopathy [RCV003527842]likely benign5127420162127420162Human1name , trait
11661731CV295124single nucleotide variantNM_001256545.2(MEGF10):c.212G>A (p.Arg71Gln)MEGF10-related myopathy [RCV000379496]|not provided [RCV001660732]uncertain significance5127339215127339215Human1name
11583698CV295126single nucleotide variantNM_001256545.2(MEGF10):c.259A>G (p.Met87Val)Inborn genetic diseases [RCV004021979]|MEGF10-related myopathy [RCV000268639]|not provided [RCV001564503]uncertain significance5127340570127340570Human2name
11597742CV295138single nucleotide variantNM_001256545.2(MEGF10):c.1002C>T (p.His334=)MEGF10-related myopathy [RCV000397639]|not specified [RCV000439607]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance5127410473127410473Human1name
11583261CV295141single nucleotide variantNM_001256545.2(MEGF10):c.1215C>T (p.Tyr405=)MEGF10-related myopathy [RCV000265274]conflicting interpretations of pathogenicity|uncertain significance5127417722127417722Human1name , trait
11586615CV295154single nucleotide variantNM_001256545.2(MEGF10):c.2175C>T (p.Ser725=)MEGF10-related disorder [RCV003957813]|MEGF10-related myopathy [RCV000289043]benign|conflicting interpretations of pathogenicity|uncertain significance5127438509127438509Human1name , trait , alternate_id
11598072CV296951single nucleotide variantNM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=)MEGF10-related myopathy [RCV000401273]conflicting interpretations of pathogenicity|uncertain significance5127410551127410551Human1name , trait
11597721CV296964single nucleotide variantNM_001256545.2(MEGF10):c.2442T>C (p.Thr814=)MEGF10-related myopathy [RCV000397380]|not provided [RCV000842087]likely benign|conflicting interpretations of pathogenicity|uncertain significance5127443077127443077Human1name
11588181CV296965single nucleotide variantNM_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 significance5127443098127443098Human1name , trait , alternate_id
11590211CV300749single nucleotide variantNM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=)MEGF10-related myopathy [RCV000316834]|not provided [RCV001706570]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance5127422681127422681Human1name
11588316CV300755single nucleotide variantNM_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 significance5127440794127440794Human1name , trait , alternate_id
402495628CV3017992single nucleotide variantNM_001256545.2(MEGF10):c.1005G>A (p.Val335=)MEGF10-related myopathy [RCV003644334]likely benign5127410476127410476Human1name , trait
405202514CV3035765single nucleotide variantNM_001256545.2(MEGF10):c.1254G>T (p.Gly418=)MEGF10-related myopathy [RCV003642382]likely benign5127417761127417761Human1name , trait
402480959CV3061706single nucleotide variantNM_001256545.2(MEGF10):c.2823C>T (p.His941=)MEGF10-related myopathy [RCV003642725]likely benign5127447651127447651Human1name , trait
402480272CV3067315single nucleotide variantNM_001256545.2(MEGF10):c.1023T>C (p.Cys341=)MEGF10-related myopathy [RCV003642643]likely benign5127410494127410494Human1name , trait
402487563CV3072645single nucleotide variantNM_001256545.2(MEGF10):c.1824C>A (p.Gly608=)MEGF10-related myopathy [RCV003643488]likely benign5127433493127433493Human1name , trait
402486997CV3080047single nucleotide variantNM_001256545.2(MEGF10):c.2007T>C (p.Cys669=)MEGF10-related myopathy [RCV003643424]likely benign5127435392127435392Human1name , trait
405136196CV3115654single nucleotide variantNM_001256545.2(MEGF10):c.2988T>C (p.Phe996=)MEGF10-related myopathy [RCV003816311]likely benign5127454573127454573Human1name , trait
405024489CV3139489single nucleotide variantNM_001256545.2(MEGF10):c.1650C>T (p.Cys550=)MEGF10-related myopathy [RCV003830132]likely benign5127422729127422729Human1name , trait
405186296CV3149053single nucleotide variantNM_001256545.2(MEGF10):c.1941C>T (p.Cys647=)MEGF10-related myopathy [RCV003842977]likely benign5127434787127434787Human1name , trait
405255428CV3176144single nucleotide variantNM_001256545.2(MEGF10):c.1566G>C (p.Gly522=)MEGF10-related myopathy [RCV003872228]likely benign5127420183127420183Human1name , trait
596947566CV3549125single nucleotide variantNM_001256545.2(MEGF10):c.1503C>T (p.Cys501=)not provided [RCV004811449]likely benign5127420120127420120Humanname
597700763CV3560298single nucleotide variantNM_001256545.2(MEGF10):c.205T>C (p.Cys69Arg)Inborn genetic diseases [RCV004956400]uncertain significance5127339208127339208Human1name
597681757CV3560300single nucleotide variantNM_001256545.2(MEGF10):c.259A>C (p.Met87Leu)Inborn genetic diseases [RCV004952021]uncertain significance5127340570127340570Human1name
12840242CV368212single nucleotide variantNM_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 pathogenicity5127420117127420117Human1name , trait , alternate_id
12846913CV368229single nucleotide variantNM_001256545.2(MEGF10):c.2757C>T (p.Asn919=)MEGF10-related myopathy [RCV000540851]|not specified [RCV000442560]benign|likely benign|conflicting interpretations of pathogenicity5127447585127447585Human1name
597698677CV3724853single nucleotide variantNM_001256545.2(MEGF10):c.1041C>T (p.Gly347=)MEGF10-related myopathy [RCV005033254]uncertain significance5127410512127410512Human1name , trait
597943367CV3757964single nucleotide variantNM_001256545.2(MEGF10):c.2088C>T (p.Gly696=)MEGF10-related myopathy [RCV005077963]likely benign5127435473127435473Human1name , trait
597943454CV3758005single nucleotide variantNM_001256545.2(MEGF10):c.2547C>T (p.Leu849=)MEGF10-related myopathy [RCV005078004]likely benign5127445512127445512Human1name , trait
597859603CV3769974single nucleotide variantNM_001256545.2(MEGF10):c.1698C>T (p.Val566=)MEGF10-related myopathy [RCV005105825]likely benign5127433367127433367Human1name , trait
597970508CV3821988single nucleotide variantNM_001256545.2(MEGF10):c.1863G>A (p.Gly621=)MEGF10-related myopathy [RCV005166451]likely benign5127434709127434709Human1name , trait
597869423CV3835172single nucleotide variantNM_001256545.2(MEGF10):c.2961C>T (p.Gly987=)MEGF10-related myopathy [RCV005176348]likely benign5127449203127449203Human1name , trait
597902524CV3835908single nucleotide variantNM_001256545.2(MEGF10):c.2217G>T (p.Gly739=)MEGF10-related myopathy [RCV005181443]likely benign5127438551127438551Human1name , trait
597891549CV3840150single nucleotide variantNM_001256545.2(MEGF10):c.1758C>T (p.Tyr586=)MEGF10-related myopathy [RCV005179849]likely benign5127433427127433427Human1name , trait
597905908CV3846630single nucleotide variantNM_001256545.2(MEGF10):c.1365C>T (p.Arg455=)MEGF10-related myopathy [RCV005182057]likely benign5127419179127419179Human1name , trait
597948975CV3848792single nucleotide variantNM_001256545.2(MEGF10):c.1683C>T (p.Pro561=)MEGF10-related myopathy [RCV005189729]likely benign5127422762127422762Human1name , trait
597878098CV3860357single nucleotide variantNM_001256545.2(MEGF10):c.1848C>T (p.Ser616=)MEGF10-related myopathy [RCV005198566]likely benign5127434694127434694Human1name , trait
598241188CV3985683single nucleotide variantNM_001256545.2(MEGF10):c.248G>C (p.Gly83Ala)Inborn genetic diseases [RCV005364771]uncertain significance5127340559127340559Human1name
8568707CV39924single nucleotide variantNM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp)Congenital myopathy 10b, mild variant [RCV000023958]|MEGF10-related myopathy [RCV001325593]pathogenic|uncertain significance5127339214127339214Human2name
12901604CV406614single nucleotide variantNM_001256545.2(MEGF10):c.1959C>T (p.Gly653=)MEGF10-related myopathy [RCV001370936]|not provided [RCV000485107]likely benign|uncertain significance5127434805127434805Human1name
13465045CV454205single nucleotide variantNM_001256545.2(MEGF10):c.1008C>T (p.Ser336=)MEGF10-related myopathy [RCV000542592]|not specified [RCV000610443]likely benign|conflicting interpretations of pathogenicity5127410479127410479Human1name
13465761CV454687single nucleotide variantNM_001256545.2(MEGF10):c.1263T>C (p.Cys421=)MEGF10-related myopathy [RCV000543015]likely benign5127417770127417770Human1name , trait
13541672CV500954single nucleotide variantNM_001256545.2(MEGF10):c.1278A>G (p.Gly426=)MEGF10-related myopathy [RCV001497939]|not specified [RCV000616488]likely benign5127417785127417785Human1name
13540839CV501112single nucleotide variantNM_001256545.2(MEGF10):c.1533C>T (p.Asp511=)MEGF10-related disorder [RCV003945469]|MEGF10-related myopathy [RCV000649879]|not provided [RCV004707360]|not specified [RCV000615272]likely benign5127420150127420150Human1name , trait , alternate_id
13526285CV501116single nucleotide variantNM_001256545.2(MEGF10):c.2853G>A (p.Thr951=)MEGF10-related myopathy [RCV000649874]|not specified [RCV000603933]likely benign5127447681127447681Human1name
13536424CV501118single nucleotide variantNM_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 significance5127449185127449185Human1name
13622512CV520472single nucleotide variantNM_001256545.2(MEGF10):c.2157T>C (p.His719=)MEGF10-related myopathy [RCV001079106]|not provided [RCV000842086]likely benign|conflicting interpretations of pathogenicity5127438491127438491Human1name
13622507CV520685single nucleotide variantNM_001256545.2(MEGF10):c.267G>T (p.Arg89Ser)MEGF10-related myopathy [RCV000649870]uncertain significance5127340578127340578Human1name , trait
13622509CV520699single nucleotide variantNM_001256545.2(MEGF10):c.2892T>C (p.Asn964=)MEGF10-related myopathy [RCV000649873]|not provided [RCV004705756]likely benign5127449134127449134Human1name
13622511CV520700single nucleotide variantNM_001256545.2(MEGF10):c.2919G>A (p.Val973=)MEGF10-related myopathy [RCV000649876]likely benign|conflicting interpretations of pathogenicity5127449161127449161Human1name , trait
13811563CV559985single nucleotide variantNM_001256545.2(MEGF10):c.116G>C (p.Ser39Thr)MEGF10-related myopathy [RCV000703146]uncertain significance5127331424127331424Human1name , trait
13810506CV576794single nucleotide variantNM_001256545.2(MEGF10):c.1041C>A (p.Gly347=)MEGF10-related myopathy [RCV002067005]|not provided [RCV000712289]likely benign5127410512127410512Human1name
14728498CV632923single nucleotide variantNM_001256545.2(MEGF10):c.1467C>T (p.Gly489=)MEGF10-related myopathy [RCV000816545]likely benign|uncertain significance5127420084127420084Human1name , trait
14708654CV655629single nucleotide variantNM_001256545.2(MEGF10):c.2568C>T (p.Ile856=)MEGF10-related myopathy [RCV002067438]|not provided [RCV000827215]likely benign5127445533127445533Human1name
15147882CV691666single nucleotide variantNM_001256545.2(MEGF10):c.1593T>C (p.Asp531=)MEGF10-related myopathy [RCV001443503]likely benign5127422672127422672Human1name , trait
15139533CV691667single nucleotide variantNM_001256545.2(MEGF10):c.1812A>G (p.Pro604=)MEGF10-related myopathy [RCV001464395]likely benign5127433481127433481Human1name , trait
15150798CV698758single nucleotide variantNM_001256545.2(MEGF10):c.1434C>T (p.His478=)Inborn genetic diseases [RCV005372496]|MEGF10-related myopathy [RCV000945565]likely benign5127420051127420051Human2name
15199492CV721191single nucleotide variantNM_001256545.2(MEGF10):c.1050C>T (p.Cys350=)MEGF10-related myopathy [RCV000890649]likely benign5127410521127410521Human1name , trait
15154574CV721192single nucleotide variantNM_001256545.2(MEGF10):c.1224T>C (p.Ala408=)MEGF10-related myopathy [RCV003642931]likely benign5127417731127417731Human1name , trait
15178841CV721193single nucleotide variantNM_001256545.2(MEGF10):c.1545G>T (p.Thr515=)MEGF10-related myopathy [RCV003528243]likely benign5127420162127420162Human1name , trait
15185046CV721194single nucleotide variantNM_001256545.2(MEGF10):c.2139C>T (p.Ile713=)not provided [RCV000886589]likely benign5127438473127438473Humanname
15132083CV734825single nucleotide variantNM_001256545.2(MEGF10):c.2022C>T (p.Thr674=)MEGF10-related disorder [RCV004757309]|MEGF10-related myopathy [RCV000897894]likely benign5127435407127435407Human1name , trait , alternate_id
15123313CV749179single nucleotide variantNM_001256545.2(MEGF10):c.1260C>T (p.Asp420=)not provided [RCV000918799]likely benign5127417767127417767Humanname
15133320CV749180single nucleotide variantNM_001256545.2(MEGF10):c.1638C>T (p.His546=)MEGF10-related myopathy [RCV000920494]likely benign5127422717127422717Human1name , trait
15168069CV749182single nucleotide variantNM_001256545.2(MEGF10):c.2430C>T (p.Cys810=)MEGF10-related myopathy [RCV001440439]likely benign5127443065127443065Human1name , trait
15119032CV749183single nucleotide variantNM_001256545.2(MEGF10):c.2463C>A (p.Pro821=)MEGF10-related myopathy [RCV000918076]likely benign5127443098127443098Human1name , trait
15115835CV764776single nucleotide variantNM_001256545.2(MEGF10):c.1212C>T (p.Phe404=)not provided [RCV000939560]likely benign5127417719127417719Humanname
15098885CV764777single nucleotide variantNM_001256545.2(MEGF10):c.1230G>A (p.Gln410=)MEGF10-related myopathy [RCV001402421]|not provided [RCV000936375]likely benign5127417737127417737Human1name
15196084CV764778single nucleotide variantNM_001256545.2(MEGF10):c.1791T>C (p.Asp597=)MEGF10-related myopathy [RCV001426564]likely benign5127433460127433460Human1name , trait
15198587CV764779single nucleotide variantNM_001256545.2(MEGF10):c.1989C>A (p.Gly663=)MEGF10-related myopathy [RCV002544484]likely benign5127435374127435374Human1name , trait
15200890CV764780single nucleotide variantNM_001256545.2(MEGF10):c.2601A>G (p.Leu867=)MEGF10-related myopathy [RCV000935509]likely benign5127445566127445566Human1name , trait
15118975CV782116single nucleotide variantNM_001256545.2(MEGF10):c.2811C>T (p.Ala937=)MEGF10-related myopathy [RCV000979041]likely benign5127447639127447639Human1name , trait
21066783CV793068single nucleotide variantNM_001256545.2(MEGF10):c.227A>G (p.Tyr76Cys)not provided [RCV000992302]uncertain significance5127340538127340538Humanname
26918408CV829896single nucleotide variantNM_001256545.2(MEGF10):c.160C>A (p.Gln54Lys)MEGF10-related myopathy [RCV001057866]uncertain significance5127339163127339163Human1name , trait
26921418CV829897single nucleotide variantNM_001256545.2(MEGF10):c.209C>T (p.Thr70Met)Inborn genetic diseases [RCV005367700]|MEGF10-related myopathy [RCV001060979]|not provided [RCV003490048]uncertain significance5127339212127339212Human2name
28888896CV892766single nucleotide variantNM_001256545.2(MEGF10):c.1800C>T (p.Cys600=)MEGF10-related myopathy [RCV001151910]|not provided [RCV001532518]likely benign|conflicting interpretations of pathogenicity|uncertain significance5127433469127433469Human1name
28899290CV892769single nucleotide variantNM_001256545.2(MEGF10):c.2424C>T (p.Ser808=)MEGF10-related myopathy [RCV001155770]uncertain significance5127443059127443059Human1name , trait
126765728CV1005720single nucleotide variantNM_001256545.2(MEGF10):c.407C>T (p.Ser136Phe)MEGF10-related myopathy [RCV001320159]uncertain significance5127369997127369997Human1name , trait
126764242CV1005721single nucleotide variantNM_001256545.2(MEGF10):c.449G>A (p.Ser150Asn)MEGF10-related myopathy [RCV001319563]uncertain significance5127396568127396568Human1name , trait
126752143CV1005722single nucleotide variantNM_001256545.2(MEGF10):c.461G>T (p.Cys154Phe)MEGF10-related myopathy [RCV001316256]uncertain significance5127396580127396580Human1name , trait
126768867CV1026241single nucleotide variantNM_001256545.2(MEGF10):c.568G>A (p.Asp190Asn)MEGF10-related myopathy [RCV001343603]uncertain significance5127396687127396687Human1name , trait
126774112CV1026242single nucleotide variantNM_001256545.2(MEGF10):c.935C>T (p.Pro312Leu)MEGF10-related myopathy [RCV001346847]|not provided [RCV001569087]uncertain significance5127410406127410406Human1name
126918500CV1043205single nucleotide variantNM_001256545.2(MEGF10):c.322C>T (p.His108Tyr)MEGF10-related myopathy [RCV001361757]uncertain significance5127369912127369912Human1name , trait
126915940CV1043206single nucleotide variantNM_001256545.2(MEGF10):c.533G>T (p.Cys178Phe)MEGF10-related myopathy [RCV001360279]uncertain significance5127396652127396652Human1name , trait
126918198CV1043207single nucleotide variantNM_001256545.2(MEGF10):c.808G>A (p.Glu270Lys)MEGF10-related myopathy [RCV001372520]uncertain significance5127402573127402573Human1name , trait
126913182CV1043208single nucleotide variantNM_001256545.2(MEGF10):c.871G>A (p.Ala291Thr)MEGF10-related myopathy [RCV001359078]uncertain significance5127402636127402636Human1name , trait
127278189CV1093731single nucleotide variantNM_001256545.2(MEGF10):c.3159G>A (p.Ser1053=)MEGF10-related myopathy [RCV001444883]likely benign5127455534127455534Human1name , trait
127328311CV1136206single nucleotide variantNM_001256545.2(MEGF10):c.3108A>G (p.Pro1036=)MEGF10-related myopathy [RCV001486725]likely benign5127455483127455483Human1name , trait
127325235CV1136207single nucleotide variantNM_001256545.2(MEGF10):c.3351A>C (p.Arg1117=)MEGF10-related myopathy [RCV001505949]likely benign5127457246127457246Human1name , trait
127289463CV1152147single nucleotide variantNM_001256545.2(MEGF10):c.529C>T (p.Arg177Cys)MEGF10-related myopathy [RCV001865956]|not provided [RCV001509245]uncertain significance5127396648127396648Human1name
150428238CV1186817microsatelliteNM_001256545.2(MEGF10):c.3026-273_3026-269delnot provided [RCV001562001]likely benign5127455123127455127Humanname
150507672CV1211234single nucleotide variantNM_001256545.2(MEGF10):c.877A>G (p.Thr293Ala)Inborn genetic diseases [RCV004039535]|MEGF10-related myopathy [RCV001866241]|not provided [RCV001596353]uncertain significance5127402642127402642Human2name
150555689CV1304844single nucleotide variantNM_001256545.2(MEGF10):c.917G>A (p.Arg306Gln)MEGF10-related myopathy [RCV002544149]|not provided [RCV001773092]likely pathogenic|uncertain significance5127402682127402682Human1name
150542854CV1314980deletionNM_001256545.2(MEGF10):c.1713del (p.Cys572fs)MEGF10-Related Myopathy [RCV001782433]likely pathogenic5127433382127433382Humanname , trait
151831081CV1355877single nucleotide variantNM_001256545.2(MEGF10):c.485C>G (p.Pro162Arg)MEGF10-related myopathy [RCV002030808]uncertain significance5127396604127396604Human1name , trait
151782074CV1369775single nucleotide variantNM_001256545.2(MEGF10):c.689A>G (p.His230Arg)MEGF10-related myopathy [RCV001930532]uncertain significance5127398705127398705Human1name , trait
151891969CV1403346single nucleotide variantNM_001256545.2(MEGF10):c.472G>A (p.Ala158Thr)MEGF10-related myopathy [RCV001943620]uncertain significance5127396591127396591Human1name , trait
151756367CV1410665single nucleotide variantNM_001256545.2(MEGF10):c.926A>T (p.Asp309Val)MEGF10-related myopathy [RCV001969701]uncertain significance5127410397127410397Human1name , trait
151738093CV1432430single nucleotide variantNM_001256545.2(MEGF10):c.610G>A (p.Asp204Asn)Inborn genetic diseases [RCV002579532]|MEGF10-related myopathy [RCV002022043]uncertain significance5127396729127396729Human2name
151821827CV1449700single nucleotide variantNM_001256545.2(MEGF10):c.632G>A (p.Arg211His)MEGF10-related myopathy [RCV002013461]uncertain significance5127396751127396751Human1name , trait
151725290CV1455649single nucleotide variantNM_001256545.2(MEGF10):c.985G>A (p.Gly329Arg)MEGF10-related myopathy [RCV002020702]uncertain significance5127410456127410456Human1name , trait
151814121CV1460488single nucleotide variantNM_001256545.2(MEGF10):c.524G>A (p.Gly175Asp)MEGF10-related myopathy [RCV001878567]uncertain significance5127396643127396643Human1name , trait
151836496CV1469612single nucleotide variantNM_001256545.2(MEGF10):c.863C>T (p.Thr288Met)Inborn genetic diseases [RCV002552246]|MEGF10-related myopathy [RCV001880843]uncertain significance5127402628127402628Human2name
151884172CV1476838single nucleotide variantNM_001256545.2(MEGF10):c.745G>A (p.Val249Ile)MEGF10-related myopathy [RCV001887093]uncertain significance5127398761127398761Human1name , trait
151876701CV1479369single nucleotide variantNM_001256545.2(MEGF10):c.740A>G (p.His247Arg)MEGF10-related myopathy [RCV001885948]uncertain significance5127398756127398756Human1name , trait
151835770CV1489329single nucleotide variantNM_001256545.2(MEGF10):c.476T>C (p.Leu159Pro)MEGF10-related myopathy [RCV001902276]uncertain significance5127396595127396595Human1name , trait
151783687CV1500551single nucleotide variantNM_001256545.2(MEGF10):c.899C>G (p.Pro300Arg)MEGF10-related myopathy [RCV001972316]uncertain significance5127402664127402664Human1name , trait
151753014CV1508619single nucleotide variantNM_001256545.2(MEGF10):c.806C>T (p.Pro269Leu)MEGF10-related myopathy [RCV001986487]uncertain significance5127402571127402571Human1name , trait
151752953CV1508870single nucleotide variantNM_001256545.2(MEGF10):c.914A>T (p.Glu305Val)MEGF10-related myopathy [RCV002043479]uncertain significance5127402679127402679Human1name , trait
151753542CV1509079single nucleotide variantNM_001256545.2(MEGF10):c.833C>T (p.Ser278Phe)MEGF10-related myopathy [RCV002043533]uncertain significance5127402598127402598Human1name , trait
152041495CV1553537single nucleotide variantNM_001256545.2(MEGF10):c.3384T>C (p.Ser1128=)MEGF10-related myopathy [RCV002088023]likely benign5127457279127457279Human1name , trait
152044484CV1584322single nucleotide variantNM_001256545.2(MEGF10):c.3000A>G (p.Arg1000=)MEGF10-related myopathy [RCV002071432]likely benign5127454585127454585Human1name , trait
152147044CV1608091single nucleotide variantNM_001256545.2(MEGF10):c.3411C>T (p.Ser1137=)MEGF10-related myopathy [RCV002178879]likely benign5127457306127457306Human1name , trait
152098637CV1627110single nucleotide variantNM_001256545.2(MEGF10):c.3138T>C (p.Cys1046=)MEGF10-related myopathy [RCV002095209]likely benign5127455513127455513Human1name , trait
152157704CV1629933single nucleotide variantNM_001256545.2(MEGF10):c.3252C>T (p.Val1084=)MEGF10-related myopathy [RCV002202882]likely benign5127457147127457147Human1name , trait
156074570CV1890047single nucleotide variantNM_001256545.2(MEGF10):c.690T>A (p.His230Gln)MEGF10-related myopathy [RCV003079657]uncertain significance5127398706127398706Human1name , trait
156227010CV1896446single nucleotide variantNM_001256545.2(MEGF10):c.3422G>A (p.Ter1141=)MEGF10-related myopathy [RCV003085216]likely benign|uncertain significance5127457317127457317Human1name , trait
156032375CV1910905single nucleotide variantNM_001256545.2(MEGF10):c.344A>G (p.His115Arg)MEGF10-related myopathy [RCV002619908]uncertain significance5127369934127369934Human1name , trait
156435360CV1940717single nucleotide variantNM_001256545.2(MEGF10):c.470G>A (p.Gly157Glu)MEGF10-related myopathy [RCV003104822]uncertain significance5127396589127396589Human1name , trait
156415186CV1961870single nucleotide variantNM_001256545.2(MEGF10):c.480C>A (p.Cys160Ter)MEGF10-related myopathy [RCV002589023]pathogenic5127396599127396599Human1name , trait
156072483CV1989080single nucleotide variantNM_001256545.2(MEGF10):c.3066C>T (p.Ser1022=)MEGF10-related myopathy [RCV002638641]likely benign5127455441127455441Human1name , trait
156329335CV1992578single nucleotide variantNM_001256545.2(MEGF10):c.878C>T (p.Thr293Ile)MEGF10-related myopathy [RCV002649732]uncertain significance5127402643127402643Human1name , trait
156113208CV1993734single nucleotide variantNM_001256545.2(MEGF10):c.706C>A (p.Gln236Lys)MEGF10-related myopathy [RCV002662570]uncertain significance5127398722127398722Human1name , trait
155948294CV1996622single nucleotide variantNM_001256545.2(MEGF10):c.917G>C (p.Arg306Pro)MEGF10-related myopathy [RCV002685872]uncertain significance5127402682127402682Human1name , trait
156176997CV2000548single nucleotide variantNM_001256545.2(MEGF10):c.349C>T (p.Arg117Cys)MEGF10-related myopathy [RCV002642906]uncertain significance5127369939127369939Human1name , trait
156270588CV2008277single nucleotide variantNM_001256545.2(MEGF10):c.557C>G (p.Thr186Ser)MEGF10-related myopathy [RCV002714968]uncertain significance5127396676127396676Human1name , trait
155949624CV2026125single nucleotide variantNM_001256545.2(MEGF10):c.542G>T (p.Arg181Leu)MEGF10-related myopathy [RCV002730609]uncertain significance5127396661127396661Human1name , trait
156211518CV2036923single nucleotide variantNM_001256545.2(MEGF10):c.966G>C (p.Glu322Asp)MEGF10-related myopathy [RCV002790260]uncertain significance5127410437127410437Human1name , trait
155909329CV2072991single nucleotide variantNM_001256545.2(MEGF10):c.980T>C (p.Val327Ala)MEGF10-related myopathy [RCV002837590]uncertain significance5127410451127410451Human1name , trait
156103361CV2084274single nucleotide variantNM_001256545.2(MEGF10):c.3018C>T (p.Ser1006=)MEGF10-related myopathy [RCV002848166]likely benign5127454603127454603Human1name , trait
156021783CV2105767single nucleotide variantNM_001256545.2(MEGF10):c.622G>A (p.Gly208Arg)MEGF10-related myopathy [RCV002923099]uncertain significance5127396741127396741Human1name , trait
156312378CV2107625single nucleotide variantNM_001256545.2(MEGF10):c.493G>A (p.Gly165Arg)MEGF10-related myopathy [RCV002937247]uncertain significance5127396612127396612Human1name , trait
156369269CV2109588single nucleotide variantNM_001256545.2(MEGF10):c.578A>G (p.Gln193Arg)MEGF10-related myopathy [RCV002942197]uncertain significance5127396697127396697Human1name , trait
156038301CV2124729single nucleotide variantNM_001256545.2(MEGF10):c.815G>A (p.Arg272His)MEGF10-related myopathy [RCV002923809]uncertain significance5127402580127402580Human1name , trait
156227668CV2164796deletionNM_001256545.2(MEGF10):c.1169del (p.Gly390fs)MEGF10-related myopathy [RCV003042965]pathogenic5127417674127417674Human1name , trait
156402655CV2189493single nucleotide variantNM_001256545.2(MEGF10):c.702T>A (p.Cys234Ter)MEGF10-related myopathy [RCV003052455]pathogenic5127398718127398718Human1name , trait
156402750CV2189538single nucleotide variantNM_001256545.2(MEGF10):c.3204T>C (p.Thr1068=)MEGF10-related myopathy [RCV003052465]likely benign5127455579127455579Human1name , trait
156364852CV2272006single nucleotide variantNM_001256545.2(MEGF10):c.521G>A (p.Arg174Gln)Inborn genetic diseases [RCV002813386]uncertain significance5127396640127396640Human1name
156292863CV2306274single nucleotide variantNM_001256545.2(MEGF10):c.457C>G (p.Gln153Glu)Inborn genetic diseases [RCV002897302]uncertain significance5127396576127396576Human1name
156056510CV2326669single nucleotide variantNM_001256545.2(MEGF10):c.623G>C (p.Gly208Ala)Inborn genetic diseases [RCV002950412]uncertain significance5127396742127396742Human1name
243050849CV2417667single nucleotide variantNM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg)Congenital myopathy 10b, mild variant [RCV003152538]pathogenic5127369942127369942Human1name
11552117CV251623single nucleotide variantNM_001256545.2(MEGF10):c.616G>A (p.Val206Ile)MEGF10-related myopathy [RCV000372429]|not specified [RCV000253947]benign|likely benign5127396735127396735Human1name
11550093CV251635single nucleotide variantNM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=)MEGF10-related myopathy [RCV000554801]|not provided [RCV001705375]|not specified [RCV000251282]benign|likely benign|conflicting interpretations of pathogenicity5127454588127454588Human1name
11544104CV251636single nucleotide variantNM_001256545.2(MEGF10):c.3162G>A (p.Pro1054=)MEGF10-related myopathy [RCV000560682]|not provided [RCV004706742]|not specified [RCV000243344]benign|likely benign5127455537127455537Human1name
11551294CV251638single nucleotide variantNM_001256545.2(MEGF10):c.3387T>A (p.Gly1129=)MEGF10-related myopathy [RCV000268761]|not specified [RCV000252848]benign|likely benign5127457282127457282Human1name
401856570CV2752494single nucleotide variantNM_001256545.2(MEGF10):c.484C>G (p.Pro162Ala)MEGF10-related myopathy [RCV003340832]uncertain significance5127396603127396603Human1name , trait
401863080CV2772103single nucleotide variantNM_001256545.2(MEGF10):c.328G>A (p.Ala110Thr)Inborn genetic diseases [RCV003343536]uncertain significance5127369918127369918Human1name
401917829CV2827968single nucleotide variantNM_001256545.2(MEGF10):c.3321C>A (p.Ile1107=)not provided [RCV003429749]likely benign5127457216127457216Humanname
405866924CV2842440single nucleotide variantNM_001256545.2(MEGF10):c.302G>A (p.Ser101Asn)EBV-positive nodal T- and NK-cell lymphoma [RCV004557797]likely benign5127340613127340613Humanname
11585296CV295127single nucleotide variantNM_001256545.2(MEGF10):c.631C>T (p.Arg211Cys)Inborn genetic diseases [RCV004948267]|MEGF10-related myopathy [RCV000279911]|not provided [RCV003486821]uncertain significance5127396750127396750Human2name
11587096CV300567single nucleotide variantNM_001256545.2(MEGF10):c.755A>G (p.Glu252Gly)MEGF10-related myopathy [RCV000292790]uncertain significance5127398771127398771Human1name , trait
11596068CV300736single nucleotide variantNM_001256545.2(MEGF10):c.512C>T (p.Ala171Val)Inborn genetic diseases [RCV003258789]|MEGF10-related myopathy [RCV000378144]uncertain significance5127396631127396631Human2name
11598213CV300744single nucleotide variantNM_001256545.2(MEGF10):c.669T>A (p.Asp223Glu)Inborn genetic diseases [RCV004021980]|MEGF10-related myopathy [RCV000403017]|not provided [RCV001509246]uncertain significance5127398685127398685Human2name
402495936CV3025331single nucleotide variantNM_001256545.2(MEGF10):c.721C>T (p.Gln241Ter)MEGF10-related myopathy [RCV003644368]pathogenic5127398737127398737Human1name , trait
405692701CV3281807single nucleotide variantNM_001256545.2(MEGF10):c.635G>C (p.Cys212Ser)Inborn genetic diseases [RCV004423958]uncertain significance5127396754127396754Human1name
407502470CV3449749single nucleotide variantNM_001256545.2(MEGF10):c.869A>G (p.Asp290Gly)Inborn genetic diseases [RCV004645156]uncertain significance5127402634127402634Human1name
407502475CV3449751single nucleotide variantNM_001256545.2(MEGF10):c.540C>A (p.Asp180Glu)Inborn genetic diseases [RCV004645158]likely benign5127396659127396659Human1name
12741847CV361182deletionNM_001256545.2(MEGF10):c.1557del (p.Trp520fs)MEGF10-related myopathy [RCV000415251]pathogenic|likely pathogenic5127420174127420174Human1name , trait
12843524CV367867single nucleotide variantNM_001256545.2(MEGF10):c.3189G>A (p.Glu1063=)MEGF10-related myopathy [RCV000544955]|not provided [RCV004705541]|not specified [RCV000436370]benign|likely benign5127455564127455564Human1name
12846321CV368126single nucleotide variantNM_001256545.2(MEGF10):c.733G>T (p.Val245Leu)Inborn genetic diseases [RCV005365297]|not provided [RCV000441425]uncertain significance5127398749127398749Human1name
12833713CV368231single nucleotide variantNM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=)MEGF10-related myopathy [RCV000945415]|not provided [RCV001698178]likely benign|conflicting interpretations of pathogenicity5127455555127455555Human1name
597933660CV3793435single nucleotide variantNM_001256545.2(MEGF10):c.3195T>C (p.Asn1065=)MEGF10-related myopathy [RCV005132091]likely benign5127455570127455570Human1name , trait
597853344CV3805794single nucleotide variantNM_001256545.2(MEGF10):c.3135G>A (p.Glu1045=)MEGF10-related myopathy [RCV005145724]likely benign5127455510127455510Human1name , trait
597931973CV3837950single nucleotide variantNM_001256545.2(MEGF10):c.3312C>T (p.Asn1104=)MEGF10-related myopathy [RCV005185919]likely benign5127457207127457207Human1name , trait
598226540CV3895816deletionNM_001256545.2(MEGF10):c.1246del (p.Gln416fs)Congenital myopathy 10b, mild variant [RCV005362108]likely pathogenic5127417752127417752Human1name
8568704CV39921deletionNM_001256545.2(MEGF10):c.1325del (p.Pro442fs)MEGF10-related myopathy [RCV000023954]pathogenic5127419136127419136Human1name , trait
8568706CV39923single nucleotide variantNM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg)Congenital myopathy 10b, mild variant [RCV000023957]|MEGF10-related myopathy [RCV001385515]pathogenic5127410447127410447Human2name
617149391CV4017518single nucleotide variantNM_001256545.2(MEGF10):c.800C>A (p.Pro267His)not provided [RCV005417176]uncertain significance5127402565127402565Humanname
617154359CV4022635single nucleotide variantNM_001256545.2(MEGF10):c.782G>C (p.Gly261Ala)not provided [RCV005429993]uncertain significance5127402547127402547Humanname
12902368CV406612single nucleotide variantNM_001256545.2(MEGF10):c.452G>A (p.Arg151Gln)MEGF10-related myopathy [RCV000649862]|not provided [RCV000486927]uncertain significance5127396571127396571Human1name
12893675CV406613single nucleotide variantNM_001256545.2(MEGF10):c.625G>T (p.Glu209Ter)not provided [RCV000479831]pathogenic5127396744127396744Humanname
12893897CV406616deletionNM_001256545.2(MEGF10):c.2407del (p.Asp803fs)not provided [RCV000480679]likely pathogenic5127443042127443042Humanname
13494949CV454199single nucleotide variantNM_001256545.2(MEGF10):c.520C>T (p.Arg174Trp)MEGF10-related myopathy [RCV000536777]uncertain significance5127396639127396639Human1name , trait
13499679CV454201single nucleotide variantNM_001256545.2(MEGF10):c.743A>G (p.His248Arg)MEGF10-related myopathy [RCV000539967]uncertain significance5127398759127398759Human1name , trait
13473144CV454686single nucleotide variantNM_001256545.2(MEGF10):c.652G>A (p.Gly218Arg)MEGF10-related myopathy [RCV000525245]|not provided [RCV005001080]likely benign|uncertain significance5127396771127396771Human1name
13528876CV500633single nucleotide variantNM_001256545.2(MEGF10):c.3123G>A (p.Pro1041=)MEGF10-related myopathy [RCV003642904]|not provided [RCV001704749]likely benign5127455498127455498Human1name
13622499CV520688single nucleotide variantNM_001256545.2(MEGF10):c.581G>A (p.Arg194Lys)MEGF10-related myopathy [RCV000649860]|not provided [RCV003486915]uncertain significance5127396700127396700Human1name
13622504CV520873single nucleotide variantNM_001256545.2(MEGF10):c.541C>T (p.Arg181Cys)MEGF10-related myopathy [RCV000649867]uncertain significance5127396660127396660Human1name , trait
13622503CV520875single nucleotide variantNM_001256545.2(MEGF10):c.956T>C (p.Leu319Pro)MEGF10-related myopathy [RCV000649866]uncertain significance5127410427127410427Human1name , trait
13810909CV559987single nucleotide variantNM_001256545.2(MEGF10):c.365A>G (p.Asn122Ser)MEGF10-related myopathy [RCV000702817]likely benign|uncertain significance5127369955127369955Human1name , trait
13805930CV559989single nucleotide variantNM_001256545.2(MEGF10):c.482A>G (p.Asn161Ser)Inborn genetic diseases [RCV004639319]|MEGF10-related myopathy [RCV000685994]uncertain significance5127396601127396601Human2name
13820218CV559991single nucleotide variantNM_001256545.2(MEGF10):c.596A>G (p.Asn199Ser)MEGF10-related myopathy [RCV000694785]uncertain significance5127396715127396715Human1name , trait
13804788CV560100single nucleotide variantNM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser)Congenital myopathy 10b, mild variant [RCV003989586]|MEGF10-related myopathy [RCV000699779]likely pathogenic|uncertain significance5127340630127340630Human2name
13822229CV560102single nucleotide variantNM_001256545.2(MEGF10):c.451C>T (p.Arg151Trp)Inborn genetic diseases [RCV002533471]|MEGF10-related myopathy [RCV000697024]|not provided [RCV001756212]uncertain significance5127396570127396570Human2name
13803629CV562591single nucleotide variantNM_001256545.2(MEGF10):c.350G>A (p.Arg117His)MEGF10-related myopathy [RCV000685005]uncertain significance5127369940127369940Human1name , trait
14706129CV632914single nucleotide variantNM_001256545.2(MEGF10):c.446C>T (p.Thr149Ile)MEGF10-related myopathy [RCV000791896]uncertain significance5127396565127396565Human1name , trait
14734002CV632915single nucleotide variantNM_001256545.2(MEGF10):c.530G>A (p.Arg177His)Inborn genetic diseases [RCV003372880]|MEGF10-related myopathy [RCV000818936]uncertain significance5127396649127396649Human2name
14724143CV632916single nucleotide variantNM_001256545.2(MEGF10):c.553G>A (p.Gly185Ser)MEGF10-related myopathy [RCV000798276]uncertain significance5127396672127396672Human1name , trait
14719908CV632917single nucleotide variantNM_001256545.2(MEGF10):c.682G>C (p.Gly228Arg)MEGF10-related myopathy [RCV000812807]uncertain significance5127398698127398698Human1name , trait
14707392CV632918single nucleotide variantNM_001256545.2(MEGF10):c.916C>T (p.Arg306Trp)Inborn genetic diseases [RCV002537297]|MEGF10-related myopathy [RCV000808780]uncertain significance5127402681127402681Human2name
14711398CV655630single nucleotide variantNM_001256545.2(MEGF10):c.3033A>T (p.Gly1011=)MEGF10-related myopathy [RCV001294277]|not provided [RCV000828029]likely benign|uncertain significance5127455408127455408Human1name
14721434CV660518deletionNM_001256545.2(MEGF10):c.1305+238_1305+239delnot provided [RCV000831668]likely benign5127418050127418051Humanname
15132593CV749184single nucleotide variantNM_001256545.2(MEGF10):c.3063C>T (p.Cys1021=)MEGF10-related myopathy [RCV001487110]likely benign5127455438127455438Human1name , trait
15122152CV764781single nucleotide variantNM_001256545.2(MEGF10):c.3207A>G (p.Ser1069=)MEGF10-related myopathy [RCV001500174]likely benign5127455582127455582Human1name , trait
21069118CV795613single nucleotide variantNM_001256545.2(MEGF10):c.446C>A (p.Thr149Asn)not provided [RCV000998423]uncertain significance5127396565127396565Humanname
26891381CV829898single nucleotide variantNM_001256545.2(MEGF10):c.304G>A (p.Gly102Arg)Inborn genetic diseases [RCV003160349]|MEGF10-related myopathy [RCV001046419]likely benign|uncertain significance5127340615127340615Human2name
26917291CV829899single nucleotide variantNM_001256545.2(MEGF10):c.320C>A (p.Pro107His)MEGF10-related myopathy [RCV001056905]uncertain significance5127369910127369910Human1name , trait
26890330CV829900single nucleotide variantNM_001256545.2(MEGF10):c.493G>C (p.Gly165Arg)MEGF10-related myopathy [RCV001045978]uncertain significance5127396612127396612Human1name , trait
26900013CV829902single nucleotide variantNM_001256545.2(MEGF10):c.542G>A (p.Arg181His)Inborn genetic diseases [RCV002552083]|MEGF10-related myopathy [RCV001035174]|not specified [RCV003479269]uncertain significance5127396661127396661Human2name
26902325CV829903single nucleotide variantNM_001256545.2(MEGF10):c.550C>T (p.Gln184Ter)MEGF10-related myopathy [RCV001071858]pathogenic5127396669127396669Human1name , trait
26887894CV829904single nucleotide variantNM_001256545.2(MEGF10):c.571T>C (p.Cys191Arg)Inborn genetic diseases [RCV004950153]|MEGF10-related myopathy [RCV001045054]uncertain significance5127396690127396690Human2name
26922024CV829905single nucleotide variantNM_001256545.2(MEGF10):c.726T>G (p.Asn242Lys)MEGF10-related myopathy [RCV001061519]uncertain significance5127398742127398742Human1name , trait
26886463CV829906single nucleotide variantNM_001256545.2(MEGF10):c.733G>A (p.Val245Met)MEGF10-related myopathy [RCV001066075]uncertain significance5127398749127398749Human1name , trait
26903633CV829907single nucleotide variantNM_001256545.2(MEGF10):c.775T>A (p.Trp259Arg)MEGF10-related myopathy [RCV001036240]|not provided [RCV004998582]uncertain significance5127398791127398791Human1name
26912757CV829908single nucleotide variantNM_001256545.2(MEGF10):c.778A>C (p.Met260Leu)MEGF10-related myopathy [RCV001039613]uncertain significance5127398794127398794Human1name , trait
26921480CV829909single nucleotide variantNM_001256545.2(MEGF10):c.814C>A (p.Arg272Ser)Inborn genetic diseases [RCV004031940]|MEGF10-related myopathy [RCV001061040]uncertain significance5127402579127402579Human2name
26917910CV829910single nucleotide variantNM_001256545.2(MEGF10):c.974A>G (p.Gln325Arg)Inborn genetic diseases [RCV004031307]|MEGF10-related myopathy [RCV001042947]likely benign|uncertain significance5127410445127410445Human2name
28898805CV892753single nucleotide variantNM_001256545.2(MEGF10):c.418G>A (p.Asp140Asn)Inborn genetic diseases [RCV004639484]|MEGF10-related myopathy [RCV001155580]uncertain significance5127396537127396537Human2name
28898809CV892754single nucleotide variantNM_001256545.2(MEGF10):c.422G>A (p.Gly141Asp)Inborn genetic diseases [RCV002559497]|MEGF10-related myopathy [RCV001155581]uncertain significance5127396541127396541Human2name
28898811CV892755single nucleotide variantNM_001256545.2(MEGF10):c.451C>G (p.Arg151Gly)MEGF10-related myopathy [RCV001155582]uncertain significance5127396570127396570Human1name , trait
38491207CV923740single nucleotide variantNM_001256545.2(MEGF10):c.401A>G (p.Asn134Ser)Inborn genetic diseases [RCV002562564]|MEGF10-related myopathy [RCV001222679]|not provided [RCV002267086]uncertain significance5127369991127369991Human2name
38489679CV923741single nucleotide variantNM_001256545.2(MEGF10):c.814C>T (p.Arg272Cys)MEGF10-related myopathy [RCV001221808]|not provided [RCV005235538]uncertain significance5127402579127402579Human1name
38481428CV944273single nucleotide variantNM_001256545.2(MEGF10):c.505T>G (p.Cys169Gly)MEGF10-related myopathy [RCV001235114]uncertain significance5127396624127396624Human1name , trait
38475259CV944274single nucleotide variantNM_001256545.2(MEGF10):c.538G>A (p.Asp180Asn)Inborn genetic diseases [RCV002567868]|MEGF10-related myopathy [RCV001232548]uncertain significance5127396657127396657Human2name
38465566CV944275single nucleotide variantNM_001256545.2(MEGF10):c.952G>A (p.Val318Ile)MEGF10-related myopathy [RCV001230168]|not provided [RCV001509247]uncertain significance5127410423127410423Human1name
38493658CV953933single nucleotide variantNM_001256545.2(MEGF10):c.700T>A (p.Cys234Ser)MEGF10-related myopathy [RCV001240839]uncertain significance5127398716127398716Human1name , trait
38497077CV960547indelNM_001256545.2(MEGF10):c.1591-6_1591-1delinsCMEGF10-related myopathy [RCV001242956]likely pathogenic5127422664127422669Humanname , trait
126732324CV990536single nucleotide variantNM_001256545.2(MEGF10):c.395G>A (p.Gly132Glu)MEGF10-related myopathy [RCV001294543]uncertain significance5127369985127369985Human1name , trait
126731139CV990537single nucleotide variantNM_001256545.2(MEGF10):c.424G>T (p.Asp142Tyr)Inborn genetic diseases [RCV002539535]|MEGF10-related myopathy [RCV001303850]uncertain significance5127396543127396543Human2name
126760785CV990538single nucleotide variantNM_001256545.2(MEGF10):c.511G>A (p.Ala171Thr)MEGF10-related myopathy [RCV001299899]uncertain significance5127396630127396630Human1name , trait
126757251CV990539single nucleotide variantNM_001256545.2(MEGF10):c.572G>A (p.Cys191Tyr)MEGF10-related myopathy [RCV001308363]uncertain significance5127396691127396691Human1name , trait
126746873CV990540single nucleotide variantNM_001256545.2(MEGF10):c.656C>T (p.Ala219Val)Inborn genetic diseases [RCV002543157]|MEGF10-related myopathy [RCV001306164]uncertain significance5127396775127396775Human2name
126739542CV990541single nucleotide variantNM_001256545.2(MEGF10):c.769T>C (p.Ser257Pro)MEGF10-related myopathy [RCV001305153]uncertain significance5127398785127398785Human1name , trait
126753429CV990542single nucleotide variantNM_001256545.2(MEGF10):c.944C>T (p.Thr315Ile)MEGF10-related myopathy [RCV001307395]uncertain significance5127410415127410415Human1name , trait
156411980CV1894119single nucleotide variantNM_001256545.2(MEGF10):c.1282T>A (p.Cys428Ser)MEGF10-related myopathy [RCV003072706]uncertain significance5127417789127417789Human1name , trait
156378379CV1927282single nucleotide variantNM_001256545.2(MEGF10):c.1657A>C (p.Thr553Pro)MEGF10-related myopathy [RCV002634052]uncertain significance5127422736127422736Human1name , trait
156378791CV1927333single nucleotide variantNM_001256545.2(MEGF10):c.2482T>A (p.Cys828Ser)MEGF10-related myopathy [RCV002634092]uncertain significance5127443117127443117Human1name , trait
156284272CV1929645single nucleotide variantNM_001256545.2(MEGF10):c.1846T>A (p.Ser616Thr)MEGF10-related myopathy [RCV002628548]uncertain significance5127434692127434692Human1name , trait
156444998CV1949054single nucleotide variantNM_001256545.2(MEGF10):c.1841T>A (p.Ile614Asn)MEGF10-related myopathy [RCV003115932]uncertain significance5127434687127434687Human1name , trait
156221960CV2037734single nucleotide variantNM_001256545.2(MEGF10):c.2341A>T (p.Met781Leu)MEGF10-related myopathy [RCV002790659]uncertain significance5127440846127440846Human1name , trait
156215474CV2039059single nucleotide variantNM_001256545.2(MEGF10):c.1847C>T (p.Ser616Phe)Inborn genetic diseases [RCV003274024]|MEGF10-related myopathy [RCV002766777]uncertain significance5127434693127434693Human2name
156382591CV2118145single nucleotide variantNM_001256545.2(MEGF10):c.1177G>A (p.Gly393Arg)MEGF10-related myopathy [RCV002943254]uncertain significance5127417684127417684Human1name , trait
156364114CV2130461single nucleotide variantNM_001256545.2(MEGF10):c.2582G>A (p.Gly861Asp)MEGF10-related myopathy [RCV002967172]uncertain significance5127445547127445547Human1name , trait
156319608CV2151439single nucleotide variantNM_001256545.2(MEGF10):c.2677G>A (p.Val893Ile)MEGF10-related myopathy [RCV003011603]uncertain significance5127445642127445642Human1name , trait
156292621CV2166251single nucleotide variantNM_001256545.2(MEGF10):c.1774T>A (p.Ser592Thr)MEGF10-related myopathy [RCV003045204]uncertain significance5127433443127433443Human1name , trait
156302230CV2166532single nucleotide variantNM_001256545.2(MEGF10):c.1124C>T (p.Thr375Ile)MEGF10-related myopathy [RCV003045607]uncertain significance5127410595127410595Human1name , trait
156327506CV2184499single nucleotide variantNM_001256545.2(MEGF10):c.1444T>C (p.Cys482Arg)MEGF10-related myopathy [RCV003047016]uncertain significance5127420061127420061Human1name , trait
156363911CV2186925single nucleotide variantNM_001256545.2(MEGF10):c.2841G>C (p.Arg947Ser)MEGF10-related myopathy [RCV003065821]uncertain significance5127447669127447669Human1name , trait
156402074CV2191419single nucleotide variantNM_001256545.2(MEGF10):c.2351A>G (p.His784Arg)MEGF10-related myopathy [RCV003052404]uncertain significance5127440856127440856Human1name , trait
156348267CV2191439single nucleotide variantNM_001256545.2(MEGF10):c.2674G>A (p.Ala892Thr)MEGF10-related myopathy [RCV003048138]uncertain significance5127445639127445639Human1name , trait
156365137CV2193135single nucleotide variantNM_001256545.2(MEGF10):c.2569G>A (p.Gly857Arg)Inborn genetic diseases [RCV002651910]uncertain significance5127445534127445534Human1name
156397669CV2197400single nucleotide variantNM_001256545.2(MEGF10):c.1508A>G (p.Asn503Ser)Inborn genetic diseases [RCV002655220]|not provided [RCV003491267]uncertain significance5127420125127420125Human1name
156337976CV2224879single nucleotide variantNM_001256545.2(MEGF10):c.2140C>T (p.His714Tyr)Inborn genetic diseases [RCV002718778]uncertain significance5127438474127438474Human1name
243050935CV2417669single nucleotide variantNM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)Congenital myopathy 10b, mild variant [RCV003152540]|MEGF10-related myopathy [RCV003336823]pathogenic|likely pathogenic5127435481127435481Human2name
329385924CV2428143single nucleotide variantNM_001256545.2(MEGF10):c.2403A>G (p.Ile801Met)Inborn genetic diseases [RCV003189481]uncertain significance5127443038127443038Human1name
405017216CV2925915single nucleotide variantNM_001256545.2(MEGF10):c.1738A>G (p.Asn580Asp)MEGF10-related myopathy [RCV003527858]uncertain significance5127433407127433407Human1name , trait
402490567CV2984714single nucleotide variantNM_001256545.2(MEGF10):c.1214A>G (p.Tyr405Cys)MEGF10-related myopathy [RCV003643785]uncertain significance5127417721127417721Human1name , trait
402493875CV2993844single nucleotide variantNM_001256545.2(MEGF10):c.1187G>A (p.Cys396Tyr)MEGF10-related myopathy [RCV003644136]uncertain significance5127417694127417694Human1name , trait
402495194CV3007079single nucleotide variantNM_001256545.2(MEGF10):c.2086G>A (p.Gly696Ser)MEGF10-related myopathy [RCV003644289]uncertain significance5127435471127435471Human1name , trait
405692661CV3281800single nucleotide variantNM_001256545.2(MEGF10):c.1388T>C (p.Val463Ala)Inborn genetic diseases [RCV004423951]uncertain significance5127419202127419202Human1name
405692667CV3281801single nucleotide variantNM_001256545.2(MEGF10):c.2144C>T (p.Thr715Met)Inborn genetic diseases [RCV004423952]uncertain significance5127438478127438478Human1name
405692672CV3281802single nucleotide variantNM_001256545.2(MEGF10):c.2801C>A (p.Thr934Asn)Inborn genetic diseases [RCV004423953]uncertain significance5127447629127447629Human1name
407518035CV3449744single nucleotide variantNM_001256545.2(MEGF10):c.1383T>A (p.Asp461Glu)Inborn genetic diseases [RCV004628728]uncertain significance5127419197127419197Human1name
407502473CV3449750single nucleotide variantNM_001256545.2(MEGF10):c.1562G>T (p.Arg521Leu)Inborn genetic diseases [RCV004645157]uncertain significance5127420179127420179Human1name
596938655CV3549707single nucleotide variantNM_001256545.2(MEGF10):c.1573T>C (p.Cys525Arg)not provided [RCV004812747]uncertain significance5127420190127420190Humanname
597681737CV3560293single nucleotide variantNM_001256545.2(MEGF10):c.2279A>G (p.Gln760Arg)Inborn genetic diseases [RCV004952018]uncertain significance5127440784127440784Human1name
597681742CV3560294single nucleotide variantNM_001256545.2(MEGF10):c.1013C>A (p.Ala338Glu)Inborn genetic diseases [RCV004952019]uncertain significance5127410484127410484Human1name
597681748CV3560295single nucleotide variantNM_001256545.2(MEGF10):c.2270T>C (p.Leu757Pro)Inborn genetic diseases [RCV004952020]uncertain significance5127440775127440775Human1name
597655104CV3731453single nucleotide variantNM_001256545.2(MEGF10):c.2911G>T (p.Gly971Cys)not provided [RCV005001634]uncertain significance5127449153127449153Humanname
597656744CV3731606single nucleotide variantNM_001256545.2(MEGF10):c.1638C>G (p.His546Gln)not provided [RCV005001787]uncertain significance5127422717127422717Humanname
597973997CV3801682single nucleotide variantNM_001256545.2(MEGF10):c.1856T>C (p.Phe619Ser)MEGF10-related myopathy [RCV005143671]uncertain significance5127434702127434702Human1name , trait
597849927CV3803171single nucleotide variantNM_001256545.2(MEGF10):c.2476G>A (p.Ala826Thr)MEGF10-related myopathy [RCV005145288]uncertain significance5127443111127443111Human1name , trait
598225337CV3985684single nucleotide variantNM_001256545.2(MEGF10):c.1867C>G (p.Arg623Gly)Inborn genetic diseases [RCV005380381]uncertain significance5127434713127434713Human1name
598241194CV3985685single nucleotide variantNM_001256545.2(MEGF10):c.1066C>T (p.Pro356Ser)Inborn genetic diseases [RCV005364772]uncertain significance5127410537127410537Human1name
8568701CV39918single nucleotide variantNM_001256545.2(MEGF10):c.1559G>A (p.Trp520Ter)MEGF10-related myopathy [RCV000023951]pathogenic5127420176127420176Human1name , trait
8568702CV39919single nucleotide variantNM_001256545.2(MEGF10):c.2301C>A (p.Cys767Ter)MEGF10-related myopathy [RCV000023952]|not provided [RCV000484880]pathogenic5127440806127440806Human1name
8568705CV39922single nucleotide variantNM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)Congenital myopathy 10b, mild variant [RCV000023956]|MEGF10-related myopathy [RCV000023955]|not provided [RCV003156219]pathogenic|likely pathogenic5127440825127440825Human2name
616933005CV4012769single nucleotide variantNM_001256545.2(MEGF10):c.1187G>C (p.Cys396Ser)not provided [RCV005410231]uncertain significance5127417694127417694Humanname
616933006CV4012770single nucleotide variantNM_001256545.2(MEGF10):c.1639G>A (p.Ala547Thr)Congenital myopathy 10b, mild variant [RCV005410232]uncertain significance5127422718127422718Human1name
21069119CV795614single nucleotide variantNM_001256545.2(MEGF10):c.1975G>C (p.Val659Leu)MEGF10-related myopathy [RCV001040453]|not provided [RCV000998424]uncertain significance5127434821127434821Human1name
26912453CV829915single nucleotide variantNM_001256545.2(MEGF10):c.1727G>T (p.Arg576Leu)Inborn genetic diseases [RCV004031098]|MEGF10-related myopathy [RCV001039353]uncertain significance5127433396127433396Human2name
26916647CV829916single nucleotide variantNM_001256545.2(MEGF10):c.1831T>C (p.Cys611Arg)MEGF10-related myopathy [RCV001042109]uncertain significance5127433500127433500Human1name , trait
26888008CV829917single nucleotide variantNM_001256545.2(MEGF10):c.1880C>T (p.Thr627Ile)MEGF10-related myopathy [RCV001045105]uncertain significance5127434726127434726Human1name , trait
26904165CV829919single nucleotide variantNM_001256545.2(MEGF10):c.1982C>T (p.Pro661Leu)MEGF10-related myopathy [RCV001036406]uncertain significance5127435367127435367Human1name , trait
26900085CV829920single nucleotide variantNM_001256545.2(MEGF10):c.2051T>C (p.Ile684Thr)Inborn genetic diseases [RCV004958364]|MEGF10-related myopathy [RCV001035202]uncertain significance5127435436127435436Human2name
26885000CV829921single nucleotide variantNM_001256545.2(MEGF10):c.2082G>T (p.Trp694Cys)MEGF10-related myopathy [RCV001043261]uncertain significance5127435467127435467Human1name , trait
26897662CV829922single nucleotide variantNM_001256545.2(MEGF10):c.2211G>C (p.Trp737Cys)MEGF10-related myopathy [RCV001048647]uncertain significance5127438545127438545Human1name , trait
26886247CV829923single nucleotide variantNM_001256545.2(MEGF10):c.2218C>T (p.Leu740Phe)Inborn genetic diseases [RCV004639438]|MEGF10-related myopathy [RCV001044085]uncertain significance5127438552127438552Human2name
26901159CV829924single nucleotide variantNM_001256545.2(MEGF10):c.2431G>A (p.Asp811Asn)Inborn genetic diseases [RCV004958410]|MEGF10-related myopathy [RCV001049788]uncertain significance5127443066127443066Human2name
26895560CV829925single nucleotide variantNM_001256545.2(MEGF10):c.2500A>T (p.Ile834Phe)Inborn genetic diseases [RCV002554586]|MEGF10-related myopathy [RCV001069677]uncertain significance5127445465127445465Human2name
26900932CV829926single nucleotide variantNM_001256545.2(MEGF10):c.2704G>T (p.Val902Phe)MEGF10-related myopathy [RCV001071433]uncertain significance5127445669127445669Human1name , trait
26916559CV829927single nucleotide variantNM_001256545.2(MEGF10):c.2789A>G (p.Tyr930Cys)MEGF10-related myopathy [RCV001056427]|MEGF10-related myopathy [RCV005394695]uncertain significance5127447617127447617Human1name , trait
28892137CV892759single nucleotide variantNM_001256545.2(MEGF10):c.1081G>A (p.Gly361Ser)MEGF10-related myopathy [RCV001153056]uncertain significance5127410552127410552Human1name , trait
28892141CV892760single nucleotide variantNM_001256545.2(MEGF10):c.1112A>C (p.His371Pro)MEGF10-related myopathy [RCV001153057]uncertain significance5127410583127410583Human1name , trait
28899039CV892761single nucleotide variantNM_001256545.2(MEGF10):c.1433A>T (p.His478Leu)MEGF10-related myopathy [RCV001155676]uncertain significance5127420050127420050Human1name , trait
28902982CV892762single nucleotide variantNM_001256545.2(MEGF10):c.1517C>G (p.Ala506Gly)MEGF10-related myopathy [RCV001157359]uncertain significance5127420134127420134Human1name , trait
28902985CV892763single nucleotide variantNM_001256545.2(MEGF10):c.1682C>T (p.Pro561Leu)MEGF10-related myopathy [RCV001157360]uncertain significance5127422761127422761Human1name , trait
28888889CV892764single nucleotide variantNM_001256545.2(MEGF10):c.1727G>A (p.Arg576His)MEGF10-related myopathy [RCV001151908]uncertain significance5127433396127433396Human1name , trait
28888892CV892765single nucleotide variantNM_001256545.2(MEGF10):c.1750C>A (p.Pro584Thr)MEGF10-related myopathy [RCV001151909]uncertain significance5127433419127433419Human1name , trait
28892418CV892767single nucleotide variantNM_001256545.2(MEGF10):c.1906G>A (p.Gly636Arg)MEGF10-related myopathy [RCV001153163]uncertain significance5127434752127434752Human1name , trait
28899287CV892768single nucleotide variantNM_001256545.2(MEGF10):c.2364G>C (p.Lys788Asn)MEGF10-related myopathy [RCV001155769]uncertain significance5127442999127442999Human1name , trait
38476447CV923742single nucleotide variantNM_001256545.2(MEGF10):c.1576G>A (p.Glu526Lys)MEGF10-related myopathy [RCV001215649]uncertain significance5127420193127420193Human1name , trait
38481621CV923743single nucleotide variantNM_001256545.2(MEGF10):c.2033A>C (p.Asn678Thr)MEGF10-related myopathy [RCV001218099]uncertain significance5127435418127435418Human1name , trait
38489382CV923744single nucleotide variantNM_001256545.2(MEGF10):c.2065C>A (p.Gln689Lys)MEGF10-related myopathy [RCV001221537]uncertain significance5127435450127435450Human1name , trait
38493355CV923745single nucleotide variantNM_001256545.2(MEGF10):c.2530C>T (p.Arg844Ter)MEGF10-related myopathy [RCV001224186]pathogenic5127445495127445495Human1name , trait
38485004CV923746single nucleotide variantNM_001256545.2(MEGF10):c.2795C>T (p.Thr932Met)Inborn genetic diseases [RCV002562482]|MEGF10-related myopathy [RCV001219680]|not provided [RCV003486967]uncertain significance5127447623127447623Human2name
38481000CV923747single nucleotide variantNM_001256545.2(MEGF10):c.2900C>T (p.Pro967Leu)MEGF10-related myopathy [RCV001217798]uncertain significance5127449142127449142Human1name , trait
38469397CV932598single nucleotide variantNM_001256545.2(MEGF10):c.1597A>G (p.Thr533Ala)Inborn genetic diseases [RCV004033531]|MEGF10-related myopathy [RCV001202236]uncertain significance5127422676127422676Human2name
38474800CV932599single nucleotide variantNM_001256545.2(MEGF10):c.1615G>A (p.Ala539Thr)MEGF10-related myopathy [RCV001203971]uncertain significance5127422694127422694Human1name , trait
38486957CV932600single nucleotide variantNM_001256545.2(MEGF10):c.1833T>G (p.Cys611Trp)MEGF10-related myopathy [RCV001209121]|not provided [RCV003480992]uncertain significance5127433502127433502Human1name
38483350CV932601single nucleotide variantNM_001256545.2(MEGF10):c.1927G>A (p.Gly643Ser)MEGF10-related myopathy [RCV001207610]uncertain significance5127434773127434773Human1name , trait
38472522CV932602single nucleotide variantNM_001256545.2(MEGF10):c.2333C>G (p.Thr778Ser)MEGF10-related myopathy [RCV001214110]uncertain significance5127440838127440838Human1name , trait
38464256CV932603single nucleotide variantNM_001256545.2(MEGF10):c.2636A>G (p.Tyr879Cys)MEGF10-related myopathy [RCV001201538]uncertain significance5127445601127445601Human1name , trait
38483442CV932604single nucleotide variantNM_001256545.2(MEGF10):c.2831A>G (p.Asn944Ser)Inborn genetic diseases [RCV005367759]|MEGF10-related myopathy [RCV001207651]uncertain significance5127447659127447659Human2name
38483539CV944276single nucleotide variantNM_001256545.2(MEGF10):c.1534G>A (p.Gly512Arg)MEGF10-related myopathy [RCV001235968]uncertain significance5127420151127420151Human1name , trait
38498735CV944277single nucleotide variantNM_001256545.2(MEGF10):c.1598C>A (p.Thr533Lys)MEGF10-related myopathy [RCV001227941]uncertain significance5127422677127422677Human1name , trait
38498689CV944278single nucleotide variantNM_001256545.2(MEGF10):c.1622G>A (p.Arg541His)Inborn genetic diseases [RCV002563124]|MEGF10-related myopathy [RCV001227907]uncertain significance5127422701127422701Human2name
38486383CV944279single nucleotide variantNM_001256545.2(MEGF10):c.1661C>T (p.Thr554Met)MEGF10-related myopathy [RCV001237184]uncertain significance5127422740127422740Human1name , trait
38497050CV944280single nucleotide variantNM_001256545.2(MEGF10):c.1709G>A (p.Ser570Asn)MEGF10-related myopathy [RCV001226800]uncertain significance5127433378127433378Human1name , trait
38483219CV944281single nucleotide variantNM_001256545.2(MEGF10):c.2021C>T (p.Thr674Ile)Inborn genetic diseases [RCV003284096]|MEGF10-related myopathy [RCV001235834]uncertain significance5127435406127435406Human2name
38460719CV953934single nucleotide variantNM_001256545.2(MEGF10):c.1036G>A (p.Ala346Thr)MEGF10-related myopathy [RCV001246795]uncertain significance5127410507127410507Human1name , trait
38456847CV953935single nucleotide variantNM_001256545.2(MEGF10):c.1402G>T (p.Asp468Tyr)MEGF10-related myopathy [RCV001245912]uncertain significance5127419216127419216Human1name , trait
11593955CV295155single nucleotide variantNM_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 significance5127445619127445619Human1trait , alternate_id
11596922CV300753single nucleotide variantNM_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 significance5127422752127422752Human1trait , alternate_id
11596393CV300784single nucleotide variantNM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser)MEGF10-related disorder [RCV003950240]|MEGF10-related myopathy [RCV000381961]likely benign|conflicting interpretations of pathogenicity|uncertain significance5127455591127455591Human1trait , alternate_id
13481966CV454340single nucleotide variantNM_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 significance5127438478127438478Human2trait , alternate_id
15147769CV691669single nucleotide variantNM_001256545.2(MEGF10):c.3354C>G (p.Asp1118Glu)MEGF10-related disorder [RCV003955780]|MEGF10-related myopathy [RCV000878823]benign|likely benign5127457249127457249Human1trait , alternate_id
126756111CV1005723single nucleotide variantNM_001256545.2(MEGF10):c.1136A>T (p.His379Leu)MEGF10-related myopathy [RCV001327904]uncertain significance5127417643127417643Human1trait
126755631CV1005725single nucleotide variantNM_001256545.2(MEGF10):c.1168G>T (p.Gly390Cys)MEGF10-related myopathy [RCV001316986]uncertain significance5127417675127417675Human1trait
126764239CV1005726single nucleotide variantNM_001256545.2(MEGF10):c.1300T>G (p.Phe434Val)MEGF10-related myopathy [RCV001319562]uncertain significance5127417807127417807Human1trait
126773304CV1005728single nucleotide variantNM_001256545.2(MEGF10):c.1849C>T (p.Pro617Ser)MEGF10-related myopathy [RCV001324255]uncertain significance5127434695127434695Human1trait
126766652CV1005729single nucleotide variantNM_001256545.2(MEGF10):c.2110C>T (p.Pro704Ser)MEGF10-related myopathy [RCV001320531]uncertain significance5127438444127438444Human1trait
126737359CV1005730single nucleotide variantNM_001256545.2(MEGF10):c.3405C>A (p.Ser1135Arg)MEGF10-related myopathy [RCV001313972]uncertain significance5127457300127457300Human1trait
126757199CV1026243single nucleotide variantNM_001256545.2(MEGF10):c.1302C>G (p.Phe434Leu)MEGF10-related myopathy [RCV001339500]uncertain significance5127417809127417809Human1trait
126727172CV1026245single nucleotide variantNM_001256545.2(MEGF10):c.1867C>T (p.Arg623Cys)MEGF10-related myopathy [RCV001348641]uncertain significance5127434713127434713Human1trait
126760780CV1026247single nucleotide variantNM_001256545.2(MEGF10):c.2227A>G (p.Thr743Ala)MEGF10-related myopathy [RCV001340504]uncertain significance5127438561127438561Human1trait
126774020CV1026248single nucleotide variantNM_001256545.2(MEGF10):c.2281T>C (p.Cys761Arg)MEGF10-related myopathy [RCV001346747]uncertain significance5127440786127440786Human1trait
126761161CV1026249single nucleotide variantNM_001256545.2(MEGF10):c.2882A>G (p.Asn961Ser)MEGF10-related myopathy [RCV001340610]uncertain significance5127449124127449124Human1trait
126918191CV1043210single nucleotide variantNM_001256545.2(MEGF10):c.1460C>G (p.Pro487Arg)MEGF10-related myopathy [RCV001361584]uncertain significance5127420077127420077Human1trait
126924146CV1043213single nucleotide variantNM_001256545.2(MEGF10):c.1711G>A (p.Val571Met)MEGF10-related myopathy [RCV001366687]uncertain significance5127433380127433380Human1trait
126923778CV1043214single nucleotide variantNM_001256545.2(MEGF10):c.1910C>A (p.Pro637His)MEGF10-related myopathy [RCV001366237]uncertain significance5127434756127434756Human1trait
126918963CV1043216single nucleotide variantNM_001256545.2(MEGF10):c.2497G>A (p.Val833Ile)MEGF10-related myopathy [RCV001372964]uncertain significance5127445462127445462Human1trait
126915214CV1043217single nucleotide variantNM_001256545.2(MEGF10):c.2758G>A (p.Ala920Thr)MEGF10-related myopathy [RCV001370782]uncertain significance5127447586127447586Human1trait
126922758CV1043219single nucleotide variantNM_001256545.2(MEGF10):c.2870A>G (p.Gln957Arg)MEGF10-related myopathy [RCV001365047]uncertain significance5127449112127449112Human1trait
126909375CV1043220single nucleotide variantNM_001256545.2(MEGF10):c.2972A>G (p.Asn991Ser)MEGF10-related myopathy [RCV001368449]uncertain significance5127449214127449214Human1trait
126920275CV1043221single nucleotide variantNM_001256545.2(MEGF10):c.3277C>T (p.Arg1093Cys)MEGF10-related myopathy [RCV001362779]uncertain significance5127457172127457172Human1trait
127256796CV1060203single nucleotide variantNM_001256545.2(MEGF10):c.3169A>T (p.Arg1057Ter)MEGF10-related myopathy [RCV001386616]pathogenic5127455544127455544Human1trait
150516223CV1287261single nucleotide variantNM_001256545.2(MEGF10):c.2873T>G (p.Leu958Arg)MEGF10-related myopathy [RCV001723253]uncertain significance5127449115127449115Human1trait
151891051CV1344554deletionNC_000005.9:g.(?_126783229)_(126784934_?)delMEGF10-related myopathy [RCV001943225]uncertain significanceHuman1trait
151722320CV1346377single nucleotide variantNM_001256545.2(MEGF10):c.1204C>G (p.Pro402Ala)MEGF10-related myopathy [RCV001966155]uncertain significance5127417711127417711Human1trait
151831832CV1356010single nucleotide variantNM_001256545.2(MEGF10):c.2920G>A (p.Gly974Arg)MEGF10-related myopathy [RCV002030876]uncertain significance5127449162127449162Human1trait
151759120CV1361682single nucleotide variantNM_001256545.2(MEGF10):c.1316G>A (p.Cys439Tyr)MEGF10-related myopathy [RCV001928301]uncertain significance5127419130127419130Human1trait
151753110CV1363750single nucleotide variantNM_001256545.2(MEGF10):c.2000A>G (p.Lys667Arg)MEGF10-related myopathy [RCV001872465]uncertain significance5127435385127435385Human1trait
151768674CV1367511single nucleotide variantNM_001256545.2(MEGF10):c.2629A>G (p.Ile877Val)MEGF10-related myopathy [RCV001863865]uncertain significance5127445594127445594Human1trait
151862847CV1368176single nucleotide variantNM_001256545.2(MEGF10):c.2566A>T (p.Ile856Phe)MEGF10-related myopathy [RCV001905520]uncertain significance5127445531127445531Human1trait
151858095CV1377535single nucleotide variantNM_001256545.2(MEGF10):c.2968C>T (p.Leu990Phe)MEGF10-related myopathy [RCV001938198]uncertain significance5127449210127449210Human1trait
151777406CV1381933single nucleotide variantNM_001256545.2(MEGF10):c.1042G>A (p.Glu348Lys)MEGF10-related myopathy [RCV001950741]uncertain significance5127410513127410513Human1trait
151839548CV1382917single nucleotide variantNM_001256545.2(MEGF10):c.2687C>T (p.Thr896Ile)MEGF10-related myopathy [RCV002031655]uncertain significance5127445652127445652Human1trait
151741046CV1386594single nucleotide variantNM_001256545.2(MEGF10):c.1820G>A (p.Arg607Gln)MEGF10-related myopathy [RCV001893273]uncertain significance5127433489127433489Human1trait
151851116CV1391661single nucleotide variantNM_001256545.2(MEGF10):c.3421T>A (p.Ter1141Arg)MEGF10-related myopathy [RCV002033187]uncertain significance5127457316127457316Human1trait
151851325CV1391806single nucleotide variantNM_001256545.2(MEGF10):c.3239C>G (p.Thr1080Arg)MEGF10-related myopathy [RCV002033215]uncertain significance5127457134127457134Human1trait
151743453CV1406744single nucleotide variantNM_001256545.2(MEGF10):c.1199G>A (p.Cys400Tyr)MEGF10-related myopathy [RCV002006048]uncertain significance5127417706127417706Human1trait
151768215CV1410445single nucleotide variantNM_001256545.2(MEGF10):c.1562G>A (p.Arg521His)MEGF10-related myopathy [RCV001987988]uncertain significance5127420179127420179Human1trait
151812296CV1417582single nucleotide variantNM_001256545.2(MEGF10):c.1960G>A (p.Ala654Thr)MEGF10-related myopathy [RCV002029089]uncertain significance5127434806127434806Human1trait
151772197CV1417939single nucleotide variantNM_001256545.2(MEGF10):c.1057C>T (p.Arg353Cys)MEGF10-related myopathy [RCV001874563]uncertain significance5127410528127410528Human1trait
151885735CV1418153single nucleotide variantNM_001256545.2(MEGF10):c.2930C>T (p.Thr977Ile)MEGF10-related myopathy [RCV001887416]uncertain significance5127449172127449172Human1trait
151815934CV1427125single nucleotide variantNM_001256545.2(MEGF10):c.2179T>C (p.Tyr727His)MEGF10-related myopathy [RCV001878738]uncertain significance5127438513127438513Human1trait
151758090CV1443607single nucleotide variantNM_001256545.2(MEGF10):c.1540T>A (p.Cys514Ser)MEGF10-related myopathy [RCV001872928]uncertain significance5127420157127420157Human1trait
151779823CV1446187single nucleotide variantNM_001256545.2(MEGF10):c.1533C>G (p.Asp511Glu)MEGF10-related myopathy [RCV001989029]uncertain significance5127420150127420150Human1trait
151750348CV1457194single nucleotide variantNM_001256545.2(MEGF10):c.3094A>G (p.Thr1032Ala)MEGF10-related myopathy [RCV001912921]uncertain significance5127455469127455469Human1trait
151876328CV1458620single nucleotide variantNM_001256545.2(MEGF10):c.3396C>G (p.Ser1132Arg)MEGF10-related myopathy [RCV001998981]uncertain significance5127457291127457291Human1trait
151876636CV1460067single nucleotide variantNM_001256545.2(MEGF10):c.3003C>G (p.Ser1001Arg)MEGF10-related myopathy [RCV002036335]uncertain significance5127454588127454588Human1trait
151847160CV1461656duplicationNC_000005.9:g.(?_126769035)_(126778838_?)dupMEGF10-related myopathy [RCV001936862]uncertain significanceHuman1trait
151736659CV1461862single nucleotide variantNM_001256545.2(MEGF10):c.1684G>A (p.Gly562Arg)MEGF10-related myopathy [RCV001967701]uncertain significance5127422763127422763Human1trait
151836684CV1466453single nucleotide variantNM_001256545.2(MEGF10):c.1685G>A (p.Gly562Glu)MEGF10-related myopathy [RCV001902370]uncertain significance5127422764127422764Human1trait
151786280CV1477914deletionNM_001256545.2(MEGF10):c.3094del (p.Thr1032fs)MEGF10-related myopathy [RCV001972577]pathogenic5127455469127455469Human1trait
151748776CV1478906single nucleotide variantNM_001256545.2(MEGF10):c.1553C>G (p.Pro518Arg)MEGF10-related myopathy [RCV002023148]uncertain significance5127420170127420170Human1trait
151833527CV1479008single nucleotide variantNM_001256545.2(MEGF10):c.2341A>G (p.Met781Val)MEGF10-related myopathy [RCV002050957]uncertain significance5127440846127440846Human1trait
151770790CV1481803single nucleotide variantNM_001256545.2(MEGF10):c.3179C>T (p.Pro1060Leu)MEGF10-related myopathy [RCV002008822]uncertain significance5127455554127455554Human1trait
151816408CV1482514deletionNM_001256545.2(MEGF10):c.1518_1528del (p.Cys507fs)MEGF10-related myopathy [RCV002049356]pathogenic5127420134127420144Human1trait
151770917CV1483286single nucleotide variantNM_001256545.2(MEGF10):c.1907G>A (p.Gly636Glu)MEGF10-related myopathy [RCV001914967]uncertain significance5127434753127434753Human1trait
151730497CV1489477single nucleotide variantNM_001256545.2(MEGF10):c.1391G>A (p.Cys464Tyr)MEGF10-related myopathy [RCV001910821]uncertain significance5127419205127419205Human1trait
151791514CV1489988single nucleotide variantNM_001256545.2(MEGF10):c.3182A>G (p.Tyr1061Cys)MEGF10-related myopathy [RCV001952094]uncertain significance5127455557127455557Human1trait
151879077CV1490769single nucleotide variantNM_001256545.2(MEGF10):c.2579C>T (p.Ala860Val)MEGF10-related myopathy [RCV001940766]uncertain significance5127445544127445544Human1trait
151864855CV1494964single nucleotide variantNM_001256545.2(MEGF10):c.2410T>A (p.Cys804Ser)MEGF10-related myopathy [RCV001980589]uncertain significance5127443045127443045Human1trait
151727595CV1495339single nucleotide variantNM_001256545.2(MEGF10):c.2027C>T (p.Thr676Ile)MEGF10-related myopathy [RCV002040873]uncertain significance5127435412127435412Human1trait
151837089CV1501095single nucleotide variantNM_001256545.2(MEGF10):c.1465G>A (p.Gly489Ser)MEGF10-related myopathy [RCV001977259]uncertain significance5127420082127420082Human1trait
151745272CV1502487single nucleotide variantNM_001256545.2(MEGF10):c.2749G>C (p.Gly917Arg)MEGF10-related myopathy [RCV001912345]uncertain significance5127447577127447577Human1trait
151770627CV1502504single nucleotide variantNM_001256545.2(MEGF10):c.2174G>A (p.Ser725Asn)MEGF10-related myopathy [RCV001896303]uncertain significance5127438508127438508Human1trait
151727847CV1505159single nucleotide variantNM_001256545.2(MEGF10):c.1207G>A (p.Gly403Arg)MEGF10-related myopathy [RCV002020989]uncertain significance5127417714127417714Human1trait
151723983CV1507814single nucleotide variantNM_001256545.2(MEGF10):c.2989G>A (p.Gly997Arg)MEGF10-related myopathy [RCV001983451]uncertain significance5127454574127454574Human1trait
151828302CV1510110single nucleotide variantNM_001256545.2(MEGF10):c.1921A>T (p.Ile641Phe)MEGF10-related myopathy [RCV001920239]uncertain significance5127434767127434767Human1trait
155642608CV1707511single nucleotide variantNM_001256545.2(MEGF10):c.2230C>T (p.Gln744Ter)MEGF10-related myopathy [RCV002288441]likely pathogenic5127438564127438564Human1trait
155707247CV1778411single nucleotide variantNM_001256545.2(MEGF10):c.3266G>A (p.Ser1089Asn)MEGF10-related myopathy [RCV002296020]uncertain significance5127457161127457161Human1trait
156407079CV1874806single nucleotide variantNM_001256545.2(MEGF10):c.3244A>C (p.Ser1082Arg)MEGF10-related myopathy [RCV003070721]uncertain significance5127457139127457139Human1trait
156409118CV1877565single nucleotide variantNM_001256545.2(MEGF10):c.3322C>T (p.Pro1108Ser)MEGF10-related myopathy [RCV003071536]uncertain significance5127457217127457217Human1trait
155967764CV1888615single nucleotide variantNM_001256545.2(MEGF10):c.2323A>G (p.Thr775Ala)MEGF10-related myopathy [RCV003075024]uncertain significance5127440828127440828Human1trait
155970053CV1888916single nucleotide variantNM_001256545.2(MEGF10):c.3374A>G (p.Gln1125Arg)MEGF10-related myopathy [RCV003075134]uncertain significance5127457269127457269Human1trait
156074540CV1890046single nucleotide variantNM_001256545.2(MEGF10):c.1363C>T (p.Arg455Cys)MEGF10-related myopathy [RCV003079656]uncertain significance5127419177127419177Human1trait
156411869CV1894036single nucleotide variantNM_001256545.2(MEGF10):c.3161C>T (p.Pro1054Leu)MEGF10-related myopathy [RCV003072660]uncertain significance5127455536127455536Human1trait
156356744CV1901140single nucleotide variantNM_001256545.2(MEGF10):c.2632A>G (p.Ile878Val)MEGF10-related myopathy [RCV002602219]uncertain significance5127445597127445597Human1name , trait
156370675CV1905308single nucleotide variantNM_001256545.2(MEGF10):c.3392G>C (p.Ser1131Thr)MEGF10-related myopathy [RCV003092399]uncertain significance5127457287127457287Human1trait
155941118CV1910080single nucleotide variantNM_001256545.2(MEGF10):c.1958G>A (p.Gly653Asp)MEGF10-related myopathy [RCV002615641]uncertain significance5127434804127434804Human1trait
156036904CV1932815single nucleotide variantNM_001256545.2(MEGF10):c.3245G>C (p.Ser1082Thr)MEGF10-related myopathy [RCV002637412]uncertain significance5127457140127457140Human1trait
156272997CV2004247single nucleotide variantNM_001256545.2(MEGF10):c.2785A>G (p.Ser929Gly)MEGF10-related myopathy [RCV002646594]uncertain significance5127447613127447613Human1trait
156098863CV2007605single nucleotide variantNM_001256545.2(MEGF10):c.1771G>A (p.Ala591Thr)MEGF10-related myopathy [RCV002695227]uncertain significance5127433440127433440Human1trait
156061084CV2008268single nucleotide variantNM_001256545.2(MEGF10):c.2029A>G (p.Asn677Asp)MEGF10-related myopathy [RCV002705388]uncertain significance5127435414127435414Human1trait
156158245CV2009316single nucleotide variantNM_001256545.2(MEGF10):c.1552C>T (p.Pro518Ser)MEGF10-related myopathy [RCV002710073]uncertain significance5127420169127420169Human1trait
155923035CV2024050single nucleotide variantNM_001256545.2(MEGF10):c.2812A>G (p.Thr938Ala)MEGF10-related myopathy [RCV002750804]uncertain significance5127447640127447640Human1trait
156034206CV2029921single nucleotide variantNM_001256545.2(MEGF10):c.2687C>A (p.Thr896Asn)MEGF10-related myopathy [RCV002735927]uncertain significance5127445652127445652Human1trait
155942803CV2032402single nucleotide variantNM_001256545.2(MEGF10):c.1169G>C (p.Gly390Ala)MEGF10-related myopathy [RCV002730227]uncertain significance5127417676127417676Human1trait
155915594CV2033438single nucleotide variantNM_001256545.2(MEGF10):c.2031C>A (p.Asn677Lys)MEGF10-related myopathy [RCV002750448]uncertain significance5127435416127435416Human1trait
156247265CV2044784single nucleotide variantNM_001256545.2(MEGF10):c.2747A>G (p.Asn916Ser)MEGF10-related myopathy [RCV002805885]uncertain significance5127447575127447575Human1trait
156198305CV2066696single nucleotide variantNM_001256545.2(MEGF10):c.3151A>G (p.Met1051Val)MEGF10-related myopathy [RCV002828847]uncertain significance5127455526127455526Human1trait
156152103CV2070386single nucleotide variantNM_001256545.2(MEGF10):c.1533C>A (p.Asp511Glu)MEGF10-related myopathy [RCV002850904]uncertain significance5127420150127420150Human1trait
156047761CV2091293single nucleotide variantNM_001256545.2(MEGF10):c.1138C>T (p.Pro380Ser)MEGF10-related myopathy [RCV002886054]uncertain significance5127417645127417645Human1trait
155998305CV2092047single nucleotide variantNM_001256545.2(MEGF10):c.1999A>G (p.Lys667Glu)MEGF10-related myopathy [RCV002908498]uncertain significance5127435384127435384Human1trait
156161499CV2095245single nucleotide variantNM_001256545.2(MEGF10):c.2838C>A (p.Asp946Glu)MEGF10-related myopathy [RCV002891014]uncertain significance5127447666127447666Human1trait
156337655CV2096011single nucleotide variantNM_001256545.2(MEGF10):c.2821C>T (p.His941Tyr)MEGF10-related myopathy [RCV002900297]uncertain significance5127447649127447649Human1trait
156022286CV2105812single nucleotide variantNM_001256545.2(MEGF10):c.1178G>A (p.Gly393Glu)MEGF10-related myopathy [RCV002923122]uncertain significance5127417685127417685Human1trait
156031534CV2117529single nucleotide variantNM_001256545.2(MEGF10):c.2302G>A (p.Asp768Asn)MEGF10-related myopathy [RCV002923535]uncertain significance5127440807127440807Human1trait
156099868CV2132497single nucleotide variantNM_001256545.2(MEGF10):c.1792G>C (p.Gly598Arg)MEGF10-related myopathy [RCV002979942]uncertain significance5127433461127433461Human1trait
156026427CV2145718single nucleotide variantNM_001256545.2(MEGF10):c.2878G>A (p.Val960Met)MEGF10-related myopathy [RCV003018481]uncertain significance5127449120127449120Human1trait
156017886CV2151438single nucleotide variantNM_001256545.2(MEGF10):c.2663C>G (p.Ser888Ter)MEGF10-related myopathy [RCV003018083]pathogenic5127445628127445628Human1trait
156194814CV2171460single nucleotide variantNM_001256545.2(MEGF10):c.3172G>A (p.Asp1058Asn)MEGF10-related myopathy [RCV003024250]uncertain significance5127455547127455547Human1trait
156174013CV2181337single nucleotide variantNM_001256545.2(MEGF10):c.1369G>A (p.Gly457Ser)MEGF10-related myopathy [RCV003057310]uncertain significance5127419183127419183Human1trait
156245719CV2187391single nucleotide variantNM_001256545.2(MEGF10):c.3034A>G (p.Lys1012Glu)MEGF10-related myopathy [RCV003059822]uncertain significance5127455409127455409Human1trait
243050844CV2417664deletionNM_001256545.2(MEGF10):c.413_659del247 (p.Cys139fs)MEGF10-related myopathy [RCV003152535]pathogenic5127396532127396778Human1trait
243050929CV2417665microsatelliteNM_001256545.2(MEGF10):c.131_132del (p.Val44fs)MEGF10-related myopathy [RCV003152536]pathogenic5127339132127339133Humantrait
405034395CV2904467single nucleotide variantNM_001256545.2(MEGF10):c.2998A>G (p.Arg1000Gly)MEGF10-related myopathy [RCV003529707]uncertain significance5127454583127454583Human1trait
11594291CV295140single nucleotide variantNM_001256545.2(MEGF10):c.1128T>A (p.His376Gln)MEGF10-related myopathy [RCV000357862]uncertain significance5127410599127410599Human1trait
11591568CV295150single nucleotide variantNM_001256545.2(MEGF10):c.1783C>G (p.Pro595Ala)MEGF10-related myopathy [RCV000330151]uncertain significance5127433452127433452Human1trait
11582618CV295156single nucleotide variantNM_001256545.2(MEGF10):c.2762A>G (p.Asn921Ser)MEGF10-related myopathy [RCV000261219]uncertain significance5127447590127447590Human1trait
11663351CV296953single nucleotide variantNM_001256545.2(MEGF10):c.2284C>A (p.Gln762Lys)MEGF10-related myopathy [RCV000395227]uncertain significance5127440789127440789Human1trait
11594442CV296963single nucleotide variantNM_001256545.2(MEGF10):c.2348G>A (p.Arg783Gln)MEGF10-related myopathy [RCV000359299]uncertain significance5127440853127440853Human1trait
11593278CV300754single nucleotide variantNM_001256545.2(MEGF10):c.1876C>G (p.Gln626Glu)MEGF10-related myopathy [RCV000347394]uncertain significance5127434722127434722Human1trait
11656345CV300770single nucleotide variantNM_001256545.2(MEGF10):c.2810C>T (p.Ala937Val)MEGF10-related myopathy [RCV000332828]uncertain significance5127447638127447638Human1trait
597860312CV3770072single nucleotide variantNM_001256545.2(MEGF10):c.3312C>A (p.Asn1104Lys)MEGF10-related myopathy [RCV005105924]uncertain significance5127457207127457207Human1trait
597943720CV3782667single nucleotide variantNM_001256545.2(MEGF10):c.3158C>A (p.Ser1053Ter)MEGF10-related myopathy [RCV005134207]pathogenic5127455533127455533Human1trait
8568700CV39917duplicationNM_001256545.2(MEGF10):c.2288_2297dup (p.Asp766delinsGluArgSerTer)MEGF10-related myopathy [RCV000023950]pathogenic5127440791127440792Human1trait
8568703CV39920single nucleotide variantNM_001256545.2(MEGF10):c.3144T>G (p.Tyr1048Ter)MEGF10-related myopathy [RCV000023953]pathogenic5127455519127455519Human1trait
13475146CV454367single nucleotide variantNM_001256545.2(MEGF10):c.3409A>G (p.Ser1137Gly)MEGF10-related myopathy [RCV000548579]uncertain significance5127457304127457304Human1trait
13479906CV454690single nucleotide variantNM_001256545.2(MEGF10):c.2431G>C (p.Asp811His)MEGF10-related myopathy [RCV000550731]uncertain significance5127443066127443066Human1trait
13479825CV454692single nucleotide variantNM_001256545.2(MEGF10):c.2704G>A (p.Val902Ile)MEGF10-related myopathy [RCV000528268]uncertain significance5127445669127445669Human1trait
13485975CV454694single nucleotide variantNM_001256545.2(MEGF10):c.2852C>T (p.Thr951Met)MEGF10-related myopathy [RCV000553475]uncertain significance5127447680127447680Human1trait
13496146CV455000single nucleotide variantNM_001256545.2(MEGF10):c.1627G>A (p.Asp543Asn)MEGF10-related myopathy [RCV000537648]uncertain significance5127422706127422706Human1trait
13622501CV520475single nucleotide variantNM_001256545.2(MEGF10):c.2477C>T (p.Ala826Val)MEGF10-related myopathy [RCV000649864]uncertain significance5127443112127443112Human1trait
13622497CV520697single nucleotide variantNM_001256545.2(MEGF10):c.2221T>C (p.Tyr741His)MEGF10-related myopathy [RCV000649858]uncertain significance5127438555127438555Human1trait
13622505CV520968single nucleotide variantNM_001256545.2(MEGF10):c.1012G>A (p.Ala338Thr)MEGF10-related myopathy [RCV000649868]uncertain significance5127410483127410483Human1trait
13622498CV520971single nucleotide variantNM_001256545.2(MEGF10):c.1654C>T (p.Pro552Ser)MEGF10-related myopathy [RCV000649859]uncertain significance5127422733127422733Human1trait
13816263CV559993single nucleotide variantNM_001256545.2(MEGF10):c.1012G>C (p.Ala338Pro)MEGF10-related myopathy [RCV000692207]uncertain significance5127410483127410483Human1trait
13803528CV559997single nucleotide variantNM_001256545.2(MEGF10):c.2467T>A (p.Trp823Arg)MEGF10-related myopathy [RCV000699290]uncertain significance5127443102127443102Human1trait
13816286CV559999single nucleotide variantNM_001256545.2(MEGF10):c.3086C>T (p.Pro1029Leu)MEGF10-related myopathy [RCV000706261]uncertain significance5127455461127455461Human1trait
13817389CV560104single nucleotide variantNM_001256545.2(MEGF10):c.1514G>A (p.Gly505Glu)MEGF10-related myopathy [RCV000706988]uncertain significance5127420131127420131Human1trait
13821137CV560106single nucleotide variantNM_001256545.2(MEGF10):c.3191T>A (p.Ile1064Asn)MEGF10-related myopathy [RCV000695454]uncertain significance5127455566127455566Human1trait
13801924CV564455single nucleotide variantNM_001256545.2(MEGF10):c.2330G>T (p.Arg777Leu)MEGF10-related myopathy [RCV000698056]uncertain significance5127440835127440835Human1trait
13804727CV564456single nucleotide variantNM_001256545.2(MEGF10):c.3005A>G (p.Tyr1002Cys)MEGF10-related myopathy [RCV000699720]uncertain significance5127454590127454590Human1trait
14721542CV632913indelNM_001256545.2(MEGF10):c.198delinsACATTC (p.Trp66Ter)MEGF10-related myopathy [RCV000797146]pathogenic5127339201127339201Humantrait
14725038CV632919single nucleotide variantNM_001256545.2(MEGF10):c.1035T>A (p.Phe345Leu)MEGF10-related myopathy [RCV000798647]uncertain significance5127410506127410506Human1trait
14743467CV632920single nucleotide variantNM_001256545.2(MEGF10):c.1070A>G (p.Glu357Gly)MEGF10-related myopathy [RCV000823463]uncertain significance5127410541127410541Human1trait
14744078CV632921single nucleotide variantNM_001256545.2(MEGF10):c.1364G>A (p.Arg455His)MEGF10-related myopathy [RCV000823852]uncertain significance5127419178127419178Human1trait
14732918CV632922single nucleotide variantNM_001256545.2(MEGF10):c.1424C>T (p.Ala475Val)MEGF10-related myopathy [RCV000818491]uncertain significance5127419238127419238Human1trait
14719120CV632925single nucleotide variantNM_001256545.2(MEGF10):c.1562G>C (p.Arg521Pro)MEGF10-related myopathy [RCV000796029]uncertain significance5127420179127420179Human1trait
14711306CV632928single nucleotide variantNM_001256545.2(MEGF10):c.1687T>C (p.Trp563Arg)MEGF10-related myopathy [RCV000809890]uncertain significance5127422766127422766Human1trait
14743253CV632930single nucleotide variantNM_001256545.2(MEGF10):c.1894G>A (p.Val632Ile)MEGF10-related myopathy [RCV000823333]uncertain significance5127434740127434740Human1trait
14739135CV632931single nucleotide variantNM_001256545.2(MEGF10):c.1910C>T (p.Pro637Leu)MEGF10-related myopathy [RCV000821218]uncertain significance5127434756127434756Human1trait
14740668CV632932single nucleotide variantNM_001256545.2(MEGF10):c.2026A>G (p.Thr676Ala)MEGF10-related myopathy [RCV000805461]uncertain significance5127435411127435411Human1trait
14721120CV632934single nucleotide variantNM_001256545.2(MEGF10):c.2155C>T (p.His719Tyr)MEGF10-related myopathy [RCV000796959]uncertain significance5127438489127438489Human1trait
14721360CV632935single nucleotide variantNM_001256545.2(MEGF10):c.2290G>A (p.Gly764Arg)MEGF10-related myopathy [RCV000797069]uncertain significance5127440795127440795Human1trait
14719020CV632936single nucleotide variantNM_001256545.2(MEGF10):c.2464G>A (p.Gly822Arg)MEGF10-related myopathy [RCV000812429]uncertain significance5127443099127443099Human1trait
14703180CV632937single nucleotide variantNM_001256545.2(MEGF10):c.2570G>C (p.Gly857Ala)MEGF10-related myopathy [RCV000807268]uncertain significance5127445535127445535Human1trait
14722493CV632939single nucleotide variantNM_001256545.2(MEGF10):c.2707A>C (p.Asn903His)MEGF10-related myopathy [RCV000797572]uncertain significance5127445672127445672Human1trait
14701368CV632940single nucleotide variantNM_001256545.2(MEGF10):c.2852C>G (p.Thr951Arg)MEGF10-related myopathy [RCV000806229]uncertain significance5127447680127447680Human1trait
14729786CV632941single nucleotide variantNM_001256545.2(MEGF10):c.2974G>A (p.Glu992Lys)MEGF10-related myopathy [RCV000800650]uncertain significance5127449216127449216Human1trait
14733735CV632942single nucleotide variantNM_001256545.2(MEGF10):c.3194A>G (p.Asn1065Ser)MEGF10-related myopathy [RCV000802406]uncertain significance5127455569127455569Human1trait
15123442CV691668single nucleotide variantNM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr)MEGF10-related myopathy [RCV000874594]likely benign|conflicting interpretations of pathogenicity5127438510127438510Human1trait
15152920CV749181single nucleotide variantNM_001256545.2(MEGF10):c.1739A>G (p.Asn580Ser)MEGF10-related myopathy [RCV001432344]likely benign5127433408127433408Human1trait
26915685CV829912indelNM_001256545.2(MEGF10):c.1012_1013delinsAA (p.Ala338Lys)MEGF10-related myopathy [RCV001041497]uncertain significance5127410483127410484Humantrait
26890715CV829913single nucleotide variantNM_001256545.2(MEGF10):c.1343A>G (p.Tyr448Cys)MEGF10-related myopathy [RCV001046130]uncertain significance5127419157127419157Human1trait
26922186CV829914single nucleotide variantNM_001256545.2(MEGF10):c.1598C>T (p.Thr533Met)MEGF10-related myopathy [RCV001061675]uncertain significance5127422677127422677Human1trait
26885282CV829918single nucleotide variantNM_001256545.2(MEGF10):c.1972G>A (p.Glu658Lys)MEGF10-related myopathy [RCV001065362]uncertain significance5127434818127434818Human1trait
26912307CV829929single nucleotide variantNM_001256545.2(MEGF10):c.3089A>G (p.Tyr1030Cys)MEGF10-related myopathy [RCV001039193]uncertain significance5127455464127455464Human1trait
26914881CV829930indelNM_001256545.2(MEGF10):c.3387_3388delinsAA (p.Gly1130Ser)MEGF10-related myopathy [RCV001040970]uncertain significance5127457282127457283Humantrait
28892697CV892770single nucleotide variantNM_001256545.2(MEGF10):c.3224A>G (p.Tyr1075Cys)MEGF10-related myopathy [RCV001153268]uncertain significance5127455599127455599Human1trait
126725416CV990543single nucleotide variantNM_001256545.2(MEGF10):c.1051G>A (p.Glu351Lys)MEGF10-related myopathy [RCV001302559]uncertain significance5127410522127410522Human1trait
126743911CV990544single nucleotide variantNM_001256545.2(MEGF10):c.1216G>A (p.Gly406Arg)MEGF10-related myopathy [RCV001305770]uncertain significance5127417723127417723Human1trait
126763882CV990546single nucleotide variantNM_001256545.2(MEGF10):c.2495G>C (p.Gly832Ala)MEGF10-related myopathy [RCV001300880]uncertain significance5127445460127445460Human1trait
126762453CV990547single nucleotide variantNM_001256545.2(MEGF10):c.2531G>C (p.Arg844Pro)MEGF10-related myopathy [RCV001300401]uncertain significance5127445496127445496Human1trait
126739047CV990548single nucleotide variantNM_001256545.2(MEGF10):c.2539A>C (p.Thr847Pro)MEGF10-related myopathy [RCV001305077]uncertain significance5127445504127445504Human1trait
126757330CV990549single nucleotide variantNM_001256545.2(MEGF10):c.2566A>G (p.Ile856Val)MEGF10-related myopathy [RCV001308387]uncertain significance5127445531127445531Human1trait
126747496CV990550single nucleotide variantNM_001256545.2(MEGF10):c.2686A>G (p.Thr896Ala)MEGF10-related myopathy [RCV001306256]uncertain significance5127445651127445651Human1trait
126750768CV990552single nucleotide variantNM_001256545.2(MEGF10):c.2842A>C (p.Met948Leu)MEGF10-related myopathy [RCV001306911]uncertain significance5127447670127447670Human1trait
126763518CV990553single nucleotide variantNM_001256545.2(MEGF10):c.3288G>C (p.Gln1096His)MEGF10-related myopathy [RCV001300735]uncertain significance5127457183127457183Human1trait
156440571CV1943628single nucleotide variantNM_001256545.2(MEGF10):c.2338T>C (p.Phe780Leu)Inborn genetic diseases [RCV004636698]|MEGF10-related myopathy [RCV003110606]uncertain significance5127440843127440843Human2name