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Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


862 records found for search term Atp2a1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150431790CV1246055single nucleotide variantNM_004320.6(ATP2A1):c.-2C>Tnot provided [RCV001663467]uncertain significance162887867028878670Humanname
13526386CV505339single nucleotide variantNM_004320.6(ATP2A1):c.-7G>Anot specified [RCV000604091]likely benign162887866528878665Humanname
8643450CV102433single nucleotide variantNM_004320.6(ATP2A1):c.*64G>ABrody myopathy [RCV000291889]|not provided [RCV000991555]|not specified [RCV000082694]benign162890420628904206Human2name
8643450CV102433single nucleotide variantNM_004320.6(ATP2A1):c.*64G>ABrody myopathy [RCV000291889]|not provided [RCV000991555]|not specified [RCV000082694]benign162890420628904207Human2name
127293860CV1157677single nucleotide variantNM_004320.6(ATP2A1):c.*51A>GBrody myopathy [RCV001511511]benign162890419328904193Human1name
11622829CV342633single nucleotide variantNM_004320.6(ATP2A1):c.-22C>TBrody myopathy [RCV000365204]|not provided [RCV004715071]|not specified [RCV000439412]benign162887865028878650Human1name
12833467CV375355single nucleotide variantNM_004320.6(ATP2A1):c.-12G>ABrody myopathy [RCV001117782]|not specified [RCV000418549]likely benign162887866028878660Human1name
597941423CV3819273single nucleotide variantNM_004320.6(ATP2A1):c.*48T>CBrody myopathy [RCV005159083]likely benign162890419028904190Human1name
28881271CV875073single nucleotide variantNM_004320.6(ATP2A1):c.-15C>TBrody myopathy [RCV001117781]uncertain significance162887865728878657Human1name
11664541CV324951single nucleotide variantNM_173201.4(ATP2A1):c.*287G>ABrody myopathy [RCV000406924]uncertain significance162890449228904492Human1name
11614702CV324963single nucleotide variantNM_173201.4(ATP2A1):c.*298C>TBrody myopathy [RCV000279247]|not provided [RCV004715072]benign|likely benign162890450328904503Human1name
11619678CV334630single nucleotide variantNM_004320.6(ATP2A1):c.*103C>TBrody myopathy [RCV000328122]|not provided [RCV004694262]uncertain significance162890424528904245Human1name
11616245CV342646single nucleotide variantNM_004320.6(ATP2A1):c.*174A>GBrody myopathy [RCV000293160]uncertain significance162890431628904316Human1name
11658871CV342655single nucleotide variantNM_004320.6(ATP2A1):c.*203G>CBrody myopathy [RCV000352730]uncertain significance162890434528904345Human1name
14718402CV668464single nucleotide variantNM_173201.3(ATP2A1):c.-507C>Anot provided [RCV000830380]benign162887816528878165Human6name
14718402CV668464single nucleotide variantNM_173201.3(ATP2A1):c.-507C>Anot provided [RCV000830380]benign162887816528878166Human6name
28892706CV875083single nucleotide variantNM_004320.6(ATP2A1):c.*158A>TBrody myopathy [RCV001121437]uncertain significance162890430028904300Human1name
28877329CV875084single nucleotide variantNM_004320.6(ATP2A1):c.*234T>GBrody myopathy [RCV001116543]uncertain significance162890437628904376Human1name
127259413CV1081948single nucleotide variantNM_004320.6(ATP2A1):c.631-6T>ABrody myopathy [RCV001401937]likely benign162888741928887419Human1name
127244409CV1103767single nucleotide variantNM_004320.6(ATP2A1):c.929-5C>GBrody myopathy [RCV001435021]likely benign162888878228888782Human1name
127299637CV1146065single nucleotide variantNM_004320.6(ATP2A1):c.324+8T>CBrody myopathy [RCV001498358]likely benign162888102728881027Human1name
150536726CV1314238single nucleotide variantNM_004320.6(ATP2A1):c.324+1G>ABrody myopathy [RCV001780663]likely pathogenic162888102028881020Human1name
151863406CV1365250duplicationNM_004320.6(ATP2A1):c.928+1dupBrody myopathy [RCV002018049]likely pathogenic162888772128887722Human1name
151744290CV1406857single nucleotide variantNM_004320.6(ATP2A1):c.118+1G>ABrody myopathy [RCV002006136]likely pathogenic162887879028878790Human1name
152056567CV1649665single nucleotide variantNM_004320.6(ATP2A1):c.137-9C>TBrody myopathy [RCV002127852]likely benign162887949228879492Human1name
156395771CV1877204single nucleotide variantNM_004320.6(ATP2A1):c.928+9G>ABrody myopathy [RCV003068573]likely benign162888773128887731Human1name
156400469CV1892837single nucleotide variantNM_004320.6(ATP2A1):c.118+1G>TBrody myopathy [RCV003069085]likely pathogenic162887879028878790Human1name
156412567CV1904489single nucleotide variantNM_004320.6(ATP2A1):c.464-5C>TBrody myopathy [RCV002587865]likely benign162888457028884570Human1name
156030789CV2001190single nucleotide variantNM_004320.6(ATP2A1):c.545-9T>ABrody myopathy [RCV002658650]likely benign162888718028887180Human1name
156136025CV2006386single nucleotide variantNM_004320.6(ATP2A1):c.544+1G>ABrody myopathy [RCV002663393]likely pathogenic162888465628884656Human1name
156008930CV2038834single nucleotide variantNM_004320.6(ATP2A1):c.631-9C>GBrody myopathy [RCV002794991]likely benign162888741628887416Human1name
156334494CV2113008deletionNM_004320.6(ATP2A1):c.464-5delBrody myopathy [RCV002938551]likely benign162888456928884569Human1name
405173948CV3122978single nucleotide variantNM_004320.6(ATP2A1):c.137-7C>ABrody myopathy [RCV003819376]likely benign162887949428879494Human1name
405251616CV3177426single nucleotide variantNM_004320.6(ATP2A1):c.219+5G>ABrody myopathy [RCV003870384]uncertain significance162887958828879588Human1name
8566394CV32843single nucleotide variantNM_004320.6(ATP2A1):c.219+1G>CBrody myopathy [RCV000019382]pathogenic162887958428879584Human1name
597861249CV3770199single nucleotide variantNM_004320.6(ATP2A1):c.631-8C>TBrody myopathy [RCV005106051]likely benign162888741728887417Human1name
12898493CV409604duplicationNM_004320.6(ATP2A1):c.118+2dupnot specified [RCV000478035]uncertain significance162887879028878791Humanname
13472573CV466347single nucleotide variantNM_004320.6(ATP2A1):c.137-4C>GBrody myopathy [RCV000532712]likely benign162887949728879497Human1name
13818040CV570092single nucleotide variantNM_004320.6(ATP2A1):c.325-2A>TBrody myopathy [RCV000707425]likely pathogenic162888244928882449Human1name
13820659CV570227duplicationNM_004320.6(ATP2A1):c.136+2dupBrody myopathy [RCV000703882]uncertain significance162887911728879118Human1name
15118845CV695686single nucleotide variantNM_004320.6(ATP2A1):c.324+7G>ABrody myopathy [RCV000873771]likely benign162888102628881026Human1name
15137749CV695687single nucleotide variantNM_004320.6(ATP2A1):c.929-9T>Cnot provided [RCV000877050]likely benign162888877828888778Humanname
26896050CV851667single nucleotide variantNM_004320.6(ATP2A1):c.324+1G>CBrody myopathy [RCV001069848]likely pathogenic162888102028881020Human1name
38497766CV960153single nucleotide variantNM_004320.6(ATP2A1):c.137-5C>GBrody myopathy [RCV001227301]likely benign|uncertain significance162887949628879496Human1name
8643452CV102435deletionNM_004320.6(ATP2A1):c.1764+6delBrody myopathy [RCV000290200]|not provided [RCV001719849]|not specified [RCV000082696]benign|likely benign|conflicting interpretations of pathogenicity162889845728898457Human1name
127276290CV1081947single nucleotide variantNM_004320.6(ATP2A1):c.463+10A>GATP2A1-related disorder [RCV004746371]|Brody myopathy [RCV001407112]likely benign162888259928882599Human1name , trait , alternate_id
127254614CV1103763single nucleotide variantNM_004320.6(ATP2A1):c.137-10C>TBrody myopathy [RCV001437292]likely benign162887949128879491Human1name
127268221CV1103768single nucleotide variantNM_004320.6(ATP2A1):c.1546-8T>CBrody myopathy [RCV001440712]likely benign162889822528898225Human1name
127315091CV1146069single nucleotide variantNM_004320.6(ATP2A1):c.1288-8C>TBrody myopathy [RCV001502629]likely benign162889481428894814Human1name
150479533CV1207852single nucleotide variantNM_004320.6(ATP2A1):c.*37+61G>Cnot provided [RCV001590128]likely benign162890380228903802Humanname
150467882CV1240952single nucleotide variantNM_004320.6(ATP2A1):c.*38-48T>Cnot provided [RCV001650410]benign162890413228904132Humanname
151800030CV1445979deletionNM_004320.6(ATP2A1):c.2863-8delBrody myopathy [RCV002011480]uncertain significance162890331528903315Human1name
151755838CV1449290single nucleotide variantNM_004320.6(ATP2A1):c.2322-2A>GATP2A1-related disorder [RCV003408056]|Brody myopathy [RCV001986741]likely pathogenic162890218228902182Human1name , trait , alternate_id
151837948CV1468184single nucleotide variantNM_004320.6(ATP2A1):c.220-14C>TBrody myopathy [RCV001956390]likely benign162888090128880901Human1name
152110422CV1536986deletionNM_004320.6(ATP2A1):c.2863-9delBrody myopathy [RCV002215409]benign162890331128903311Human1name
152045035CV1556051duplicationNM_004320.6(ATP2A1):c.2322-5dupBrody myopathy [RCV002206829]likely benign162890217628902177Human1name
152152399CV1565206single nucleotide variantNM_004320.6(ATP2A1):c.137-11T>CBrody myopathy [RCV002102429]likely benign162887949028879490Human1name
152128085CV1572189single nucleotide variantNM_004320.6(ATP2A1):c.2101-9C>TBrody myopathy [RCV002217685]likely benign162890185428901854Human1name
152120052CV1576134single nucleotide variantNM_004320.6(ATP2A1):c.1764+7A>CBrody myopathy [RCV002197926]likely benign162889845828898458Human1name
152079896CV1579939single nucleotide variantNM_004320.6(ATP2A1):c.929-14C>TBrody myopathy [RCV002076228]likely benign162888877328888773Human1name
152167426CV1600693single nucleotide variantNM_004320.6(ATP2A1):c.1545+7A>GBrody myopathy [RCV002160866]likely benign162889813228898132Human1name
152110238CV1603443single nucleotide variantNM_004320.6(ATP2A1):c.2744+9C>GBrody myopathy [RCV002096750]likely benign162890292028902920Human1name
152140819CV1628832single nucleotide variantNM_004320.6(ATP2A1):c.463+15C>TBrody myopathy [RCV002100749]likely benign162888260428882604Human1name
152032730CV1629492single nucleotide variantNM_004320.6(ATP2A1):c.630+11C>TBrody myopathy [RCV002106423]likely benign162888728528887285Human1name
152139034CV1637983single nucleotide variantNM_004320.6(ATP2A1):c.545-20C>ABrody myopathy [RCV002177808]likely benign162888716928887169Human1name
152088824CV1638975single nucleotide variantNM_004320.6(ATP2A1):c.324+12C>TBrody myopathy [RCV002150319]likely benign162888103128881031Human1name
156288583CV1885032single nucleotide variantNM_004320.6(ATP2A1):c.1764+6C>TBrody myopathy [RCV003061352]uncertain significance162889845728898457Human1name
156233907CV1885336single nucleotide variantNM_004320.6(ATP2A1):c.2744+4G>ABrody myopathy [RCV003085479]uncertain significance162890291528902915Human1name
156028870CV1903145single nucleotide variantNM_004320.6(ATP2A1):c.630+12G>ABrody myopathy [RCV003100556]likely benign162888728628887286Human1name
156028783CV1923064single nucleotide variantNM_004320.6(ATP2A1):c.2321+9C>TBrody myopathy [RCV002637065]likely benign162890209228902092Human1name
156440358CV1946776single nucleotide variantNM_004320.6(ATP2A1):c.137-19C>TBrody myopathy [RCV003110390]likely benign162887948228879482Human1name
156172245CV1968392single nucleotide variantNM_004320.6(ATP2A1):c.544+15G>CBrody myopathy [RCV002594805]likely benign162888467028884670Human1name
156262958CV1977621single nucleotide variantNM_004320.6(ATP2A1):c.464-10C>GBrody myopathy [RCV002597842]likely benign162888456528884565Human1name
156218535CV2015378single nucleotide variantNM_004320.6(ATP2A1):c.219+10G>ABrody myopathy [RCV002700912]likely benign162887959328879593Human1name
155913169CV2081458single nucleotide variantNM_004320.6(ATP2A1):c.137-14G>CBrody myopathy [RCV002858635]likely benign162887948728879487Human1name
156060119CV2098456single nucleotide variantNM_004320.6(ATP2A1):c.*38-20C>TBrody myopathy [RCV002886479]likely benign162890416028904160Human1name
156040282CV2121476single nucleotide variantNM_004320.6(ATP2A1):c.544+18G>TBrody myopathy [RCV002923888]likely benign162888467328884673Human1name
156149015CV2154321single nucleotide variantNM_004320.6(ATP2A1):c.136+20G>ABrody myopathy [RCV003022786]likely benign162887913628879136Human1name
401962782CV2845404single nucleotide variantNM_004320.6(ATP2A1):c.1288-5C>Gnot provided [RCV003482865]uncertain significance162889481728894817Humanname
405042437CV2874395single nucleotide variantNM_004320.6(ATP2A1):c.325-20C>TBrody myopathy [RCV003518123]likely benign162888243128882431Human1name
405047764CV2883044single nucleotide variantNM_004320.6(ATP2A1):c.119-16T>CBrody myopathy [RCV003518597]likely benign162887908328879083Human1name
405046960CV2885947single nucleotide variantNM_004320.6(ATP2A1):c.2524+1G>ABrody myopathy [RCV003518525]likely pathogenic162890238728902387Human1name
405058401CV2995539single nucleotide variantNM_004320.6(ATP2A1):c.2525-1G>ABrody myopathy [RCV003631916]likely pathogenic162890257928902579Human1name
405058752CV3004545single nucleotide variantNM_004320.6(ATP2A1):c.544+12T>GBrody myopathy [RCV003632022]likely benign162888466728884667Human1name
405066953CV3075933single nucleotide variantNM_004320.6(ATP2A1):c.928+18T>CBrody myopathy [RCV003632812]likely benign162888774028887740Human1name
405194259CV3128567single nucleotide variantNM_004320.6(ATP2A1):c.630+20C>GBrody myopathy [RCV003821304]likely benign162888729428887294Human1name
405062983CV3148459single nucleotide variantNM_004320.6(ATP2A1):c.631-12T>CBrody myopathy [RCV003850415]likely benign162888741328887413Human1name
405221863CV3154842single nucleotide variantNM_004320.6(ATP2A1):c.463+16G>CBrody myopathy [RCV003847337]likely benign162888260528882605Human1name
402514004CV3178772single nucleotide variantNM_004320.6(ATP2A1):c.2610+8G>ABrody myopathy [RCV003879205]likely benign162890267328902673Human1name
11623280CV341114single nucleotide variantNM_004320.6(ATP2A1):c.220-11C>TBrody myopathy [RCV000371054]conflicting interpretations of pathogenicity|uncertain significance162888090428880904Human1name
11622545CV342641single nucleotide variantNM_004320.6(ATP2A1):c.2524+3G>TBrody myopathy [RCV000361810]|not provided [RCV000991556]|not specified [RCV000425932]benign|likely benign|conflicting interpretations of pathogenicity162890238928902389Human1name
12849152CV374322single nucleotide variantNM_004320.6(ATP2A1):c.1184+1G>ABrody myopathy [RCV000812735]|not provided [RCV000424927]pathogenic|likely pathogenic162889424428894244Human1name
597841288CV3752806single nucleotide variantNM_004320.6(ATP2A1):c.545-17T>CBrody myopathy [RCV005086535]likely benign162888717228887172Human1name
12833101CV375356single nucleotide variantNM_004320.6(ATP2A1):c.463+16G>ABrody myopathy [RCV002525389]|not specified [RCV000417867]likely benign162888260528882605Human1name
597850311CV3761802single nucleotide variantNM_004320.6(ATP2A1):c.463+11G>ABrody myopathy [RCV005087898]likely benign162888260028882600Human1name
597847619CV3792830duplicationNM_004320.6(ATP2A1):c.137-11dupBrody myopathy [RCV005144966]likely benign162887948928879490Human1name
597960563CV3794687single nucleotide variantNM_004320.6(ATP2A1):c.118+14G>ABrody myopathy [RCV005138592]likely benign162887880328878803Human1name
597957709CV3848930single nucleotide variantNM_004320.6(ATP2A1):c.2980+1G>CBrody myopathy [RCV005191931]uncertain significance162890344128903441Human1name
597937524CV3852623single nucleotide variantNM_004320.6(ATP2A1):c.1546-9G>TBrody myopathy [RCV005187022]likely benign162889822428898224Human1name
597873332CV3859247single nucleotide variantNM_004320.6(ATP2A1):c.325-11T>CBrody myopathy [RCV005197836]likely benign162888244028882440Human1name
13212436CV426168single nucleotide variantNM_004320.6(ATP2A1):c.1546-6T>Anot provided [RCV000498816]uncertain significance162889822728898227Humanname
13472677CV466353single nucleotide variantNM_004320.6(ATP2A1):c.1287+5C>TBrody myopathy [RCV000533483]uncertain significance162889461228894612Human1name
13472766CV466621single nucleotide variantNM_004320.6(ATP2A1):c.1765-4C>GBrody myopathy [RCV000534304]likely benign162890057728900577Human1name
13476567CV466624single nucleotide variantNM_004320.6(ATP2A1):c.2862+9T>GBrody myopathy [RCV000558105]likely benign162890315628903156Human1name
13519383CV486141single nucleotide variantNM_004320.6(ATP2A1):c.2862+1G>ABrody myopathy [RCV004796243]|not provided [RCV000585619]pathogenic|likely pathogenic162890314828903148Human1name
13527376CV505346single nucleotide variantNM_004320.6(ATP2A1):c.630+16C>GBrody myopathy [RCV002063331]|not specified [RCV000599733]benign|likely benign162888729028887290Human1name
13527361CV505348single nucleotide variantNM_004320.6(ATP2A1):c.631-17C>TBrody myopathy [RCV002063084]|not specified [RCV000605148]likely benign162888740828887408Human1name
13537457CV505771single nucleotide variantNM_004320.6(ATP2A1):c.631-10C>Tnot specified [RCV000610427]likely benign162888741528887415Humanname
13607727CV529900single nucleotide variantNM_004320.6(ATP2A1):c.2101-8T>GBrody myopathy [RCV000639618]|not provided [RCV004715323]benign162890185528901855Human1name
14703999CV654800single nucleotide variantNM_004320.6(ATP2A1):c.2744+1G>ABrody myopathy [RCV000825511]likely pathogenic162890291228902912Human1name
14734660CV667509single nucleotide variantNM_004320.6(ATP2A1):c.544+39C>Tnot provided [RCV000837656]benign162888469428884694Humanname
14734932CV667510single nucleotide variantNM_004320.6(ATP2A1):c.*38-68A>Cnot provided [RCV000837780]benign162890411228904112Humanname
14734652CV668298single nucleotide variantNM_004320.6(ATP2A1):c.118+21C>Anot provided [RCV000837653]benign162887881028878810Human1name
14734652CV668298single nucleotide variantNM_004320.6(ATP2A1):c.118+21C>Anot provided [RCV000837653]benign162887881028878811Human1name
15137692CV695688single nucleotide variantNM_004320.6(ATP2A1):c.1420-6C>TBrody myopathy [RCV000877041]likely benign162889799428897994Human1name
15136986CV695689single nucleotide variantNM_004320.6(ATP2A1):c.2744+8C>TBrody myopathy [RCV000876916]likely benign162890291928902919Human1name
15188893CV731060single nucleotide variantNM_004320.6(ATP2A1):c.929-10C>GBrody myopathy [RCV001481834]likely benign162888877728888777Human1name
150334343CV1172833single nucleotide variantNM_004320.6(ATP2A1):c.545-197C>Anot provided [RCV001539994]likely benign162888699228886992Humanname
150429041CV1188352single nucleotide variantNM_004320.6(ATP2A1):c.464-228G>Cnot provided [RCV001563071]likely benign162888434728884347Humanname
150496189CV1206004single nucleotide variantNM_004320.6(ATP2A1):c.928+267T>Gnot provided [RCV001593686]likely benign162888798928887989Humanname
150467756CV1207148deletionNM_004320.6(ATP2A1):c.545-178delnot provided [RCV001587940]likely benign162888699328886993Humanname
150461742CV1231514single nucleotide variantNM_004320.6(ATP2A1):c.2863-36A>Gnot provided [RCV001641081]benign162890328728903287Humanname
150474055CV1234384duplicationNM_004320.6(ATP2A1):c.545-178dupnot provided [RCV001651704]benign162888699228886993Humanname
150493625CV1238706deletionNM_004320.6(ATP2A1):c.*38-153delnot provided [RCV001655250]benign162890401928904019Humanname
150479256CV1239353single nucleotide variantNM_004320.6(ATP2A1):c.2611-11C>GBrody myopathy [RCV002073024]|not provided [RCV001652516]benign162890276728902767Human1name
150455769CV1246961single nucleotide variantNM_004320.6(ATP2A1):c.136+106C>Gnot provided [RCV001668729]benign162887922228879222Humanname
150470524CV1248010single nucleotide variantNM_004320.6(ATP2A1):c.463+317C>Anot provided [RCV001671046]benign162888290628882906Humanname
150471222CV1248182single nucleotide variantNM_004320.6(ATP2A1):c.2980+77C>Tnot provided [RCV001671219]benign162890351728903517Humanname
150471888CV1252155single nucleotide variantNM_004320.6(ATP2A1):c.325-254G>Anot provided [RCV001671356]benign162888219728882197Humanname
150449627CV1260846duplicationNM_004320.6(ATP2A1):c.*38-153dupnot provided [RCV001680515]benign162890401828904019Humanname
150500404CV1283535deletionNM_004320.6(ATP2A1):c.463+169delnot provided [RCV001718386]benign162888275228882752Humanname
151748450CV1353216single nucleotide variantNM_004320.6(ATP2A1):c.1419+10C>TBrody myopathy [RCV001912720]likely benign162889496328894963Human1name
152097891CV1531576single nucleotide variantNM_004320.6(ATP2A1):c.1419+11G>ABrody myopathy [RCV002213611]likely benign162889496428894964Human1name
152162646CV1537274single nucleotide variantNM_004320.6(ATP2A1):c.1096-11C>TBrody myopathy [RCV002159917]likely benign162889414428894144Human1name
152045464CV1539486single nucleotide variantNM_004320.6(ATP2A1):c.2744+10C>TBrody myopathy [RCV002145038]likely benign162890292128902921Human1name
152027391CV1562826duplicationNM_004320.6(ATP2A1):c.1184+16dupBrody myopathy [RCV002104876]likely benign162889425828894259Human1name
152061501CV1585280single nucleotide variantNM_004320.6(ATP2A1):c.1095+14T>CBrody myopathy [RCV002073733]likely benign162888896728888967Human1name
152159867CV1588300single nucleotide variantNM_004320.6(ATP2A1):c.2322-19G>ABrody myopathy [RCV002180742]likely benign162890216528902165Human1name
152073312CV1598873single nucleotide variantNM_004320.6(ATP2A1):c.2322-14C>TBrody myopathy [RCV002148380]likely benign162890217028902170Human1name
152095167CV1599571single nucleotide variantNM_004320.6(ATP2A1):c.1287+18T>CBrody myopathy [RCV002094739]likely benign162889462528894625Human1name
152041542CV1603219single nucleotide variantNM_004320.6(ATP2A1):c.2321+18C>TBrody myopathy [RCV002071080]likely benign162890210128902101Human1name
152151220CV1605700single nucleotide variantNM_004320.6(ATP2A1):c.2863-19C>TBrody myopathy [RCV002102260]likely benign162890330428903304Human1name
152137279CV1608985single nucleotide variantNM_004320.6(ATP2A1):c.1287+12T>GBrody myopathy [RCV002119875]likely benign162889461928894619Human1name
152164786CV1625603single nucleotide variantNM_004320.6(ATP2A1):c.2525-16C>TBrody myopathy [RCV002160319]likely benign162890256428902564Human1name
152099936CV1627347single nucleotide variantNM_004320.6(ATP2A1):c.1545+11G>ABrody myopathy [RCV002095386]likely benign162889813628898136Human1name
152167001CV1632808single nucleotide variantNM_004320.6(ATP2A1):c.1288-15C>TBrody myopathy [RCV002182056]likely benign162889480728894807Human1name
152091767CV1647011single nucleotide variantNM_004320.6(ATP2A1):c.2610+20G>ABrody myopathy [RCV002150683]likely benign162890268528902685Human1name
152055525CV1648864single nucleotide variantNM_004320.6(ATP2A1):c.2863-12C>TBrody myopathy [RCV002072883]likely benign162890331128903311Human1name
152129546CV1650598single nucleotide variantNM_004320.6(ATP2A1):c.2611-16C>TBrody myopathy [RCV002118896]likely benign162890276228902762Human1name
152144338CV1651656single nucleotide variantNM_004320.6(ATP2A1):c.2100+12C>ABrody myopathy [RCV002138591]likely benign162890092828900928Human1name
152095968CV1653333single nucleotide variantNM_004320.6(ATP2A1):c.2980+12C>TBrody myopathy [RCV002094841]likely benign162890345228903452Human1name
152104998CV1658867single nucleotide variantNM_004320.6(ATP2A1):c.2321+19G>ABrody myopathy [RCV002152283]likely benign162890210228902102Human1name
152030584CV1660653single nucleotide variantNM_004320.6(ATP2A1):c.2322-16C>TBrody myopathy [RCV002105957]likely benign162890216828902168Human1name
156357075CV1877576single nucleotide variantNM_004320.6(ATP2A1):c.2322-14C>ABrody myopathy [RCV003065328]likely benign162890217028902170Human1name
156352353CV1923549single nucleotide variantNM_004320.6(ATP2A1):c.1287+20C>GBrody myopathy [RCV002650988]likely benign162889462728894627Human1name
156445241CV1945241single nucleotide variantNM_004320.6(ATP2A1):c.2611-15G>ABrody myopathy [RCV003116181]likely benign162890276328902763Human1name
156412064CV1970104single nucleotide variantNM_004320.6(ATP2A1):c.1546-17C>TBrody myopathy [RCV002608433]likely benign162889821628898216Human1name
156387387CV1979870single nucleotide variantNM_004320.6(ATP2A1):c.2862+10C>ABrody myopathy [RCV002604383]likely benign162890315728903157Human1name
156231332CV1991854single nucleotide variantNM_004320.6(ATP2A1):c.2610+12C>TBrody myopathy [RCV002626803]likely benign162890267728902677Human1name
155948502CV2058551single nucleotide variantNM_004320.6(ATP2A1):c.2862+14C>GBrody myopathy [RCV002816129]likely benign162890316128903161Human1name
156106487CV2096442single nucleotide variantNM_004320.6(ATP2A1):c.2524+20C>TBrody myopathy [RCV002913601]likely benign162890240628902406Human1name
156314907CV2144021single nucleotide variantNM_004320.6(ATP2A1):c.2524+12G>TBrody myopathy [RCV003011325]likely benign162890239828902398Human1name
156341338CV2174902single nucleotide variantNM_004320.6(ATP2A1):c.2744+19C>TBrody myopathy [RCV003047753]likely benign162890293028902930Human1name
405041035CV2859821single nucleotide variantNM_004320.6(ATP2A1):c.2862+14C>TBrody myopathy [RCV003518018]likely benign162890316128903161Human1name
405043420CV2879654single nucleotide variantNM_004320.6(ATP2A1):c.1184+20T>CBrody myopathy [RCV003518252]likely benign162889426328894263Human1name
405045532CV2881114single nucleotide variantNM_004320.6(ATP2A1):c.1287+16C>TBrody myopathy [RCV003518396]likely benign162889462328894623Human1name
405030109CV2903261single nucleotide variantNM_004320.6(ATP2A1):c.1095+13G>ABrody myopathy [RCV003516746]likely benign162888896628888966Human1name
405033172CV2909582single nucleotide variantNM_004320.6(ATP2A1):c.2745-17C>TBrody myopathy [RCV003516991]likely benign162890301328903013Human1name
405053774CV2970959single nucleotide variantNM_004320.6(ATP2A1):c.1096-10T>CBrody myopathy [RCV003631588]likely benign162889414528894145Human1name
405060701CV3007311deletionNM_004320.6(ATP2A1):c.2100+15delBrody myopathy [RCV003632137]likely benign162890093028900930Human1name
405061315CV3027058single nucleotide variantNM_004320.6(ATP2A1):c.2862+16C>ABrody myopathy [RCV003632286]likely benign162890316328903163Human1name
405063703CV3055335single nucleotide variantNM_004320.6(ATP2A1):c.1419+20G>ABrody myopathy [RCV003632534]likely benign162889497328894973Human1name
405067149CV3078953single nucleotide variantNM_004320.6(ATP2A1):c.2745-15C>ABrody myopathy [RCV003632830]likely benign162890301528903015Human1name
405077282CV3156251single nucleotide variantNM_004320.6(ATP2A1):c.1420-17C>TBrody myopathy [RCV003851309]likely benign162889798328897983Human1name
402518930CV3175309single nucleotide variantNM_004320.6(ATP2A1):c.2525-20C>TBrody myopathy [RCV003879592]likely benign162890256028902560Human1name
11623795CV341116single nucleotide variantNM_004320.6(ATP2A1):c.1184+12A>GBrody myopathy [RCV000377582]uncertain significance162889425528894255Human1name
11615179CV341117single nucleotide variantNM_004320.6(ATP2A1):c.1185-11C>TBrody myopathy [RCV000283183]conflicting interpretations of pathogenicity|uncertain significance162889449428894494Human1name
12847185CV375067single nucleotide variantNM_004320.6(ATP2A1):c.2862+20G>CBrody myopathy [RCV002059971]|not specified [RCV000443022]likely benign162890316728903167Human1name
597967860CV3752122single nucleotide variantNM_004320.6(ATP2A1):c.2863-18G>ABrody myopathy [RCV005083316]likely benign162890330528903305Human1name
12847046CV377495single nucleotide variantNM_004320.6(ATP2A1):c.2862+15G>ABrody myopathy [RCV002058949]|not specified [RCV000442791]likely benign162890316228903162Human1name
597869317CV3835151single nucleotide variantNM_004320.6(ATP2A1):c.2744+14A>CBrody myopathy [RCV005176327]likely benign162890292528902925Human1name
597870866CV3835613single nucleotide variantNM_004320.6(ATP2A1):c.2980+15C>TBrody myopathy [RCV005176604]likely benign162890345528903455Human1name
597916805CV3841982single nucleotide variantNM_004320.6(ATP2A1):c.2611-16C>GBrody myopathy [RCV005183655]likely benign162890276228902762Human1name
597942932CV3847369single nucleotide variantNM_004320.6(ATP2A1):c.1764+11G>ABrody myopathy [RCV005188288]likely benign162889846228898462Human1name
597927880CV3855571single nucleotide variantNM_004320.6(ATP2A1):c.2610+13C>TBrody myopathy [RCV005206170]likely benign162890267828902678Human1name
13540535CV505352single nucleotide variantNM_004320.6(ATP2A1):c.1095+11G>Cnot specified [RCV000614832]likely benign162888896428888964Humanname
14734655CV667497single nucleotide variantNM_004320.6(ATP2A1):c.325-240A>Gnot provided [RCV000837654]benign162888221128882211Humanname
14739143CV667507single nucleotide variantNM_004320.6(ATP2A1):c.464-236G>Anot provided [RCV000839736]benign162888433928884339Humanname
14734657CV668302single nucleotide variantNM_004320.6(ATP2A1):c.325-201T>Cnot provided [RCV000837655]benign162888225028882250Human1name
14734657CV668302single nucleotide variantNM_004320.6(ATP2A1):c.325-201T>Cnot provided [RCV000837655]benign162888225028882251Human1name
14737789CV668305single nucleotide variantNM_004320.6(ATP2A1):c.1185-95C>Tnot provided [RCV000839082]likely benign162889441028894410Humanname
14736777CV668309single nucleotide variantNM_004320.6(ATP2A1):c.1288-30G>Anot provided [RCV000838636]likely benign162889479228894792Humanname
14739415CV668310single nucleotide variantNM_004320.6(ATP2A1):c.2100+37C>Tnot provided [RCV000839864]likely benign162890095328900953Humanname
14739149CV668316single nucleotide variantNM_004320.6(ATP2A1):c.2610+40G>Anot provided [RCV000839740]benign162890270528902705Humanname
14735451CV668466single nucleotide variantNM_004320.6(ATP2A1):c.464-225C>Tnot provided [RCV000838015]benign162888435028884350Humanname
14724154CV668474single nucleotide variantNM_004320.6(ATP2A1):c.545-295A>Gnot provided [RCV000832856]likely benign162888689428886894Humanname
14734663CV668484single nucleotide variantNM_004320.6(ATP2A1):c.1288-59G>Cnot provided [RCV000837657]benign162889476328894763Human3name
14734664CV668489single nucleotide variantNM_004320.6(ATP2A1):c.2524+80T>Cnot provided [RCV000837658]benign162890246628902466Human10name
14734691CV668502single nucleotide variantNM_004320.6(ATP2A1):c.*37+155G>Anot provided [RCV000837670]benign162890389628903896Humanname
28886775CV876650single nucleotide variantNM_004320.6(ATP2A1):c.2101-15C>TBrody myopathy [RCV001119442]uncertain significance162890184828901848Human1name
150405378CV1195055single nucleotide variantNM_004320.6(ATP2A1):c.1420-210A>Gnot provided [RCV001571601]likely benign162889779028897790Humanname
150467851CV1207164single nucleotide variantNM_004320.6(ATP2A1):c.1764+152G>Anot provided [RCV001587956]likely benign162889860328898603Humanname
150478099CV1207609single nucleotide variantNM_004320.6(ATP2A1):c.2101-236C>Tnot provided [RCV001589885]likely benign162890162728901627Humanname
150507092CV1256845deletionNM_004320.6(ATP2A1):c.1765-262delnot provided [RCV001678348]benign162890030928900309Humanname
150443792CV1264643deletionNM_004320.6(ATP2A1):c.2101-221delnot provided [RCV001679627]benign162890163328901633Humanname
14736775CV668475single nucleotide variantNM_004320.6(ATP2A1):c.1095+185C>Gnot provided [RCV000838635]likely benign162888913828889138Humanname
14735453CV668492single nucleotide variantNM_004320.6(ATP2A1):c.2980+125G>Tnot provided [RCV000838016]benign162890356528903565Humanname
152137221CV1603697microsatelliteNM_004320.6(ATP2A1):c.2980+13CT[2]Brody myopathy [RCV002218884]likely benign162890345328903454Humanname
11624533CV324950deletionNM_004320.6(ATP2A1):c.*158_*159delBrody myopathy [RCV000387423]uncertain significance162890430028904301Human1name
405043768CV2869186microsatelliteNM_004320.6(ATP2A1):c.2101-15CTC[2]Brody myopathy [RCV003518278]likely benign162890184828901850Humanname
156195340CV1912275single nucleotide variantNM_004320.6(ATP2A1):c.9C>T (p.Ala3=)Brody myopathy [RCV002595515]likely benign162887868028878680Human1name
405053443CV2960935single nucleotide variantNM_004320.6(ATP2A1):c.6G>A (p.Glu2=)Brody myopathy [RCV003631488]likely benign162887867728878677Human1name
597892128CV3822857single nucleotide variantNM_004320.6(ATP2A1):c.9C>A (p.Ala3=)Brody myopathy [RCV005179933]likely benign162887868028878680Human1name
152132465CV1630140microsatelliteNM_004320.6(ATP2A1):c.929-13_929-6delBrody myopathy [RCV002176982]likely benign162888876728888774Humanname
126727890CV1032569single nucleotide variantNM_004320.6(ATP2A1):c.1A>G (p.Met1Val)Brody myopathy [RCV001348798]uncertain significance162887867228878672Human1name
127291954CV1125167single nucleotide variantNM_004320.6(ATP2A1):c.66G>A (p.Thr22=)Brody myopathy [RCV001451643]likely benign162887873728878737Human1name
150465151CV1277192microsatelliteNM_004320.6(ATP2A1):c.325-45_325-44delnot provided [RCV001710486]benign162888240428882405Humanname
150536430CV1293063deletionNM_004320.6(ATP2A1):c.929-23_929-12delBrody myopathy [RCV002073999]|not provided [RCV001762849]benign162888875828888769Human1name
152099246CV1546857microsatelliteNM_004320.6(ATP2A1):c.*38-14_*38-13delBrody myopathy [RCV002133052]likely benign162890416328904164Humanname
152114997CV1628144microsatelliteNM_004320.6(ATP2A1):c.2525-5_2525-3delBrody myopathy [RCV002197277]likely benign162890257128902573Humanname
156411788CV1893972deletionNM_004320.6(ATP2A1):c.2101-4_2101-3delBrody myopathy [RCV003072627]likely benign162890185828901859Human1name
156309715CV1928269deletionNM_004320.6(ATP2A1):c.219+20_219+21delBrody myopathy [RCV002648085]likely benign162887960328879604Human1name
156120430CV1982724single nucleotide variantNM_004320.6(ATP2A1):c.4G>A (p.Glu2Lys)Brody myopathy [RCV002622923]uncertain significance162887867528878675Human1name
156332540CV2000686microsatelliteNM_004320.6(ATP2A1):c.119-15_119-13delBrody myopathy [RCV002649900]|not provided [RCV003126258]likely benign162887907928879081Humanname
11647170CV334586single nucleotide variantNM_004320.6(ATP2A1):c.78G>A (p.Pro26=)Brody myopathy [RCV000275115]conflicting interpretations of pathogenicity|uncertain significance162887874928878749Human1name
597920296CV3811764single nucleotide variantNM_004320.6(ATP2A1):c.90G>A (p.Lys30=)Brody myopathy [RCV005155595]likely benign162887876128878761Human1name
14708300CV668761microsatelliteNM_004320.6(ATP2A1):c.929-38_929-14delnot provided [RCV000827103]likely benign162888872128888745Humanname
127232533CV1103764single nucleotide variantNM_004320.6(ATP2A1):c.198C>G (p.Leu66=)Brody myopathy [RCV001421346]likely benign162887956228879562Human1name
127301380CV1146064single nucleotide variantNM_004320.6(ATP2A1):c.129T>C (p.Ala43=)ATP2A1-related disorder [RCV003921045]|Brody myopathy [RCV001498816]likely benign162887910928879109Human1name , trait , alternate_id
151879342CV1359851single nucleotide variantNM_004320.6(ATP2A1):c.201G>A (p.Leu67=)Brody myopathy [RCV002036652]likely benign|uncertain significance162887956528879565Human1name
151739584CV1454870single nucleotide variantNM_004320.6(ATP2A1):c.261C>T (p.Ala87=)Brody myopathy [RCV001946968]likely benign162888095628880956Human1name
152045670CV1525755single nucleotide variantNM_004320.6(ATP2A1):c.207A>C (p.Ala69=)Brody myopathy [RCV002126626]likely benign162887957128879571Human1name
152121368CV1657646single nucleotide variantNM_004320.6(ATP2A1):c.198C>T (p.Leu66=)Brody myopathy [RCV002216823]likely benign162887956228879562Human1name
156330480CV1969916single nucleotide variantNM_004320.6(ATP2A1):c.177C>T (p.Asp59=)Brody myopathy [RCV002600765]likely benign162887954128879541Human1name
405040680CV2859376single nucleotide variantNM_004320.6(ATP2A1):c.144C>G (p.Thr48=)Brody myopathy [RCV003517981]likely benign162887950828879508Human1name
405061185CV3010694single nucleotide variantNM_004320.6(ATP2A1):c.294C>T (p.Leu98=)Brody myopathy [RCV003632133]likely benign162888098928880989Human1name
12839023CV375048single nucleotide variantNM_004320.6(ATP2A1):c.114C>T (p.Leu38=)not specified [RCV000428056]likely benign162887878528878785Humanname
597844812CV3752669single nucleotide variantNM_004320.6(ATP2A1):c.159G>C (p.Val53=)Brody myopathy [RCV005087075]likely benign162887952328879523Human1name
597899521CV3774509single nucleotide variantNM_004320.6(ATP2A1):c.108C>T (p.Tyr36=)Brody myopathy [RCV005112044]likely benign162887877928878779Human1name
597970337CV3801916single nucleotide variantNM_004320.6(ATP2A1):c.258T>C (p.Thr86=)Brody myopathy [RCV005141708]likely benign162888095328880953Human1name
13607726CV529892single nucleotide variantNM_004320.6(ATP2A1):c.204C>T (p.Ala68=)Brody myopathy [RCV000639619]likely benign162887956828879568Human1name
13607730CV530214single nucleotide variantNM_004320.6(ATP2A1):c.195C>A (p.Leu65=)Brody myopathy [RCV000639616]likely benign162887955928879559Human1name
13808247CV577540single nucleotide variantNM_004320.6(ATP2A1):c.159G>A (p.Val53=)ATP2A1-related disorder [RCV003965461]|Brody myopathy [RCV001080238]|not provided [RCV000710658]benign|likely benign|conflicting interpretations of pathogenicity162887952328879523Human1name , trait , alternate_id
15103428CV726556single nucleotide variantNM_004320.6(ATP2A1):c.195C>T (p.Leu65=)Brody myopathy [RCV001503179]likely benign162887955928879559Human1name
8643455CV102438single nucleotide variantNM_004320.6(ATP2A1):c.663C>G (p.Gly221=)ATP2A1-related disorder [RCV003915107]|Brody myopathy [RCV001082125]|not provided [RCV000723519]|not specified [RCV000082699]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance162888745728887457Human1name , trait , alternate_id
8643456CV102439single nucleotide variantNM_004320.6(ATP2A1):c.678T>C (p.Thr226=)Brody myopathy [RCV000371805]|not provided [RCV000991557]|not specified [RCV000082700]benign162888747228887472Human1name
127239042CV1081946single nucleotide variantNM_004320.6(ATP2A1):c.369G>A (p.Glu123=)ATP2A1-related disorder [RCV003898375]|Brody myopathy [RCV001392608]likely benign162888249528882495Human1name , trait , alternate_id
127231156CV1081949single nucleotide variantNM_004320.6(ATP2A1):c.648C>A (p.Ala216=)Brody myopathy [RCV001395154]likely benign162888744228887442Human1name
127283338CV1081950single nucleotide variantNM_004320.6(ATP2A1):c.690C>T (p.Thr230=)Brody myopathy [RCV001411714]likely benign162888748428887484Human1name
127284052CV1081951single nucleotide variantNM_004320.6(ATP2A1):c.933T>C (p.Leu311=)Brody myopathy [RCV001412204]likely benign162888879128888791Human1name
127268618CV1103765single nucleotide variantNM_004320.6(ATP2A1):c.570C>T (p.His190=)Brody myopathy [RCV001430020]likely benign162888721428887214Human1name
127279383CV1103766single nucleotide variantNM_004320.6(ATP2A1):c.579C>T (p.Pro193=)Brody myopathy [RCV001445729]likely benign162888722328887223Human1name
127309284CV1125168single nucleotide variantNM_004320.6(ATP2A1):c.573G>A (p.Thr191=)Brody myopathy [RCV001463557]|not provided [RCV002276519]likely benign162888721728887217Human1name
127294134CV1125169single nucleotide variantNM_004320.6(ATP2A1):c.672C>T (p.Ala224=)Brody myopathy [RCV001452174]likely benign162888746628887466Human1name
127331337CV1125170single nucleotide variantNM_004320.6(ATP2A1):c.846C>T (p.Pro282=)Brody myopathy [RCV001471480]likely benign162888764028887640Human1name
127322507CV1146066single nucleotide variantNM_004320.6(ATP2A1):c.576G>A (p.Glu192=)Brody myopathy [RCV001505146]likely benign162888722028887220Human1name
127304585CV1146067single nucleotide variantNM_004320.6(ATP2A1):c.591C>T (p.Pro197=)Brody myopathy [RCV001499668]likely benign162888723528887235Human1name
127286465CV1146068single nucleotide variantNM_004320.6(ATP2A1):c.666C>T (p.Ile222=)Brody myopathy [RCV001494241]likely benign162888746028887460Human1name
151355743CV1326924deletionNM_004320.6(ATP2A1):c.178del (p.Leu60fs)Brody myopathy [RCV001822096]pathogenic162887954128879541Human1name
151821666CV1354984deletionNM_004320.6(ATP2A1):c.2610+25_2610+53delBrody myopathy [RCV001934204]likely benign|uncertain significance162890268328902711Human1name
151768100CV1408078single nucleotide variantNM_004320.6(ATP2A1):c.88A>C (p.Lys30Gln)Brody myopathy [RCV001914714]uncertain significance162887875928878759Human1name
151815391CV1444661single nucleotide variantNM_004320.6(ATP2A1):c.92G>A (p.Arg31Gln)Brody myopathy [RCV001933619]uncertain significance162887876328878763Human1name
151761428CV1459678single nucleotide variantNM_004320.6(ATP2A1):c.546C>T (p.Gly182=)Brody myopathy [RCV002044324]likely benign|uncertain significance162888719028887190Human1name
151892393CV1481003single nucleotide variantNM_004320.6(ATP2A1):c.98T>A (p.Leu33Gln)Brody myopathy [RCV001944066]uncertain significance162887876928878769Human1name
152033489CV1542701single nucleotide variantNM_004320.6(ATP2A1):c.963G>C (p.Leu321=)Brody myopathy [RCV002106581]likely benign162888882128888821Human1name
152167615CV1577492single nucleotide variantNM_004320.6(ATP2A1):c.660G>A (p.Leu220=)Brody myopathy [RCV002204753]likely benign162888745428887454Human1name
152141205CV1625259single nucleotide variantNM_004320.6(ATP2A1):c.588C>T (p.Asp196=)Brody myopathy [RCV002219394]likely benign162888723228887232Human1name
152126691CV1641960single nucleotide variantNM_004320.6(ATP2A1):c.417G>A (p.Arg139=)Brody myopathy [RCV002176265]likely benign162888254328882543Human1name
152039556CV1644426single nucleotide variantNM_004320.6(ATP2A1):c.315G>C (p.Gly105=)Brody myopathy [RCV002165481]likely benign162888101028881010Human1name
156318233CV1876050single nucleotide variantNM_004320.6(ATP2A1):c.801C>T (p.Ile267=)Brody myopathy [RCV003062891]likely benign162888759528887595Human1name
155953306CV1876478single nucleotide variantNM_004320.6(ATP2A1):c.348C>T (p.Ile116=)Brody myopathy [RCV003074275]likely benign162888247428882474Human1name
156337402CV1902301single nucleotide variantNM_004320.6(ATP2A1):c.459G>A (p.Val153=)Brody myopathy [RCV003090149]likely benign162888258528882585Human1name
156029922CV1910610single nucleotide variantNM_004320.6(ATP2A1):c.44A>G (p.Tyr15Cys)Brody myopathy [RCV002619804]uncertain significance162887871528878715Human1name
156032929CV1921212single nucleotide variantNM_004320.6(ATP2A1):c.819T>G (p.Leu273=)Brody myopathy [RCV002619932]likely benign162888761328887613Human1name
156244241CV1992691single nucleotide variantNM_004320.6(ATP2A1):c.58G>A (p.Glu20Lys)Brody myopathy [RCV002627239]uncertain significance162887872928878729Human1name
156084714CV1993046single nucleotide variantNM_004320.6(ATP2A1):c.516G>A (p.Thr172=)Brody myopathy [RCV002639015]likely benign162888462728884627Human1name
156007150CV2015099single nucleotide variantNM_004320.6(ATP2A1):c.538C>T (p.Leu180=)Brody myopathy [RCV002690326]likely benign162888464928884649Human1name
156231770CV2048738single nucleotide variantNM_004320.6(ATP2A1):c.711C>T (p.Asp237=)Brody myopathy [RCV002791023]likely benign162888750528887505Human1name
156157099CV2063369single nucleotide variantNM_004320.6(ATP2A1):c.912G>A (p.Val304=)Brody myopathy [RCV002851072]likely benign162888770628887706Human1name
156251368CV2082611single nucleotide variantNM_004320.6(ATP2A1):c.81C>G (p.Asp27Glu)Brody myopathy [RCV002876954]|not provided [RCV004794597]uncertain significance162887875228878752Human1name
156030021CV2105471single nucleotide variantNM_004320.6(ATP2A1):c.894T>C (p.Ile298=)Brody myopathy [RCV002910023]likely benign162888768828887688Human1name
156242570CV2126049single nucleotide variantNM_004320.6(ATP2A1):c.498C>T (p.Leu166=)Brody myopathy [RCV002958924]likely benign162888460928884609Human1name
156266964CV2135059single nucleotide variantNM_004320.6(ATP2A1):c.648C>T (p.Ala216=)Brody myopathy [RCV002988682]likely benign162888744228887442Human1name
405060747CV3022734single nucleotide variantNM_004320.6(ATP2A1):c.735C>T (p.Asp245=)Brody myopathy [RCV003632232]likely benign162888752928887529Human1name
405061382CV3030967single nucleotide variantNM_004320.6(ATP2A1):c.381G>C (p.Gly127=)Brody myopathy [RCV003632292]likely benign162888250728882507Human1name
405068240CV3080340single nucleotide variantNM_004320.6(ATP2A1):c.333C>T (p.Asn111=)ATP2A1-related disorder [RCV003949008]|Brody myopathy [RCV003632924]likely benign162888245928882459Human1name , trait , alternate_id
405243061CV3164712single nucleotide variantNM_004320.6(ATP2A1):c.972T>C (p.Arg324=)Brody myopathy [RCV003867793]likely benign162888883028888830Human1name
11614349CV324938single nucleotide variantNM_004320.6(ATP2A1):c.450C>T (p.Ile150=)Brody myopathy [RCV000276427]|not specified [RCV000606852]likely benign|conflicting interpretations of pathogenicity|uncertain significance162888257628882576Human1name
11618732CV324939single nucleotide variantNM_004320.6(ATP2A1):c.675C>T (p.Thr225=)Brody myopathy [RCV000317553]uncertain significance162888746928887469Human1name
597893511CV3743972single nucleotide variantNM_004320.6(ATP2A1):c.654G>A (p.Lys218=)Brody myopathy [RCV005071442]likely benign162888744828887448Human1name
12843325CV375063single nucleotide variantNM_004320.6(ATP2A1):c.658T>C (p.Leu220=)not specified [RCV000436023]likely benign162888745228887452Humanname
12841417CV375361single nucleotide variantNM_004320.6(ATP2A1):c.870C>T (p.Arg290=)ATP2A1-related disorder [RCV003970196]|Brody myopathy [RCV000524732]|not provided [RCV001537830]|not specified [RCV000432544]benign|likely benign162888766428887664Human1name , trait , alternate_id
597883636CV3764291single nucleotide variantNM_004320.6(ATP2A1):c.924C>T (p.Pro308=)Brody myopathy [RCV005109509]likely benign162888771828887718Human1name
597958243CV3849039single nucleotide variantNM_004320.6(ATP2A1):c.804T>C (p.Cys268=)Brody myopathy [RCV005192040]likely benign162888759828887598Human1name
598224422CV3920305single nucleotide variantNM_004320.6(ATP2A1):c.65C>T (p.Thr22Met)Inborn genetic diseases [RCV005294102]uncertain significance162887873628878736Human1name
13475435CV465598single nucleotide variantNM_004320.6(ATP2A1):c.840C>T (p.Asn280=)Brody myopathy [RCV000550976]likely benign162888763428887634Human1name
13475160CV466605single nucleotide variantNM_004320.6(ATP2A1):c.915T>G (p.Ala305=)Brody myopathy [RCV000549640]likely benign162888770928887709Human1name
15122814CV693834single nucleotide variantNM_004320.6(ATP2A1):c.342C>T (p.Asn114=)ATP2A1-related disorder [RCV003895348]|Brody myopathy [RCV001467514]|not provided [RCV000874480]likely benign162888246828882468Human1name , trait , alternate_id
15146099CV693835single nucleotide variantNM_004320.6(ATP2A1):c.897C>T (p.Ala299=)Brody myopathy [RCV001392598]likely benign162888769128887691Human1name
15109466CV714847single nucleotide variantNM_004320.6(ATP2A1):c.765G>A (p.Glu255=)Brody myopathy [RCV000960705]likely benign|conflicting interpretations of pathogenicity162888755928887559Human1name
15146147CV770836single nucleotide variantNM_004320.6(ATP2A1):c.405G>A (p.Lys135=)Brody myopathy [RCV001414042]likely benign162888253128882531Human1name
15188668CV770837single nucleotide variantNM_004320.6(ATP2A1):c.435C>T (p.Ile145=)Brody myopathy [RCV001480958]likely benign162888256128882561Human1name
15197792CV770838single nucleotide variantNM_004320.6(ATP2A1):c.513C>A (p.Thr171=)Brody myopathy [RCV001409544]likely benign162888462428884624Human1name
28881272CV875074single nucleotide variantNM_004320.6(ATP2A1):c.41C>A (p.Ala14Asp)Brody myopathy [RCV001117783]uncertain significance162887871228878712Human1name
38486046CV937400single nucleotide variantNM_004320.6(ATP2A1):c.55A>G (p.Ser19Gly)Brody myopathy [RCV001208726]uncertain significance162887872628878726Human1name
8643451CV102434single nucleotide variantNM_004320.6(ATP2A1):c.1614G>A (p.Thr538=)Brody myopathy [RCV000344136]|not provided [RCV004714428]|not specified [RCV000082695]benign|likely benign|conflicting interpretations of pathogenicity162889830128898301Human1name
126726717CV1032570single nucleotide variantNM_004320.6(ATP2A1):c.280A>G (p.Ile94Val)Brody myopathy [RCV001348538]uncertain significance162888097528880975Human1name
126920280CV1049560single nucleotide variantNM_004320.6(ATP2A1):c.1347G>A (p.Val449=)Brody myopathy [RCV001362782]likely benign|uncertain significance162889488128894881Human1name
127258014CV1081952single nucleotide variantNM_004320.6(ATP2A1):c.1071C>T (p.Thr357=)Brody myopathy [RCV001401610]likely benign162888892928888929Human1name
127278333CV1081953single nucleotide variantNM_004320.6(ATP2A1):c.1539T>C (p.Phe513=)Brody myopathy [RCV001408421]likely benign162889811928898119Human1name
127251579CV1081954single nucleotide variantNM_004320.6(ATP2A1):c.2403G>A (p.Gly801=)Brody myopathy [RCV001400134]likely benign162890226528902265Human1name
127247411CV1103769single nucleotide variantNM_004320.6(ATP2A1):c.1614G>C (p.Thr538=)Brody myopathy [RCV001435621]likely benign162889830128898301Human1name
127261320CV1103770single nucleotide variantNM_004320.6(ATP2A1):c.1698C>A (p.Thr566=)Brody myopathy [RCV001438757]likely benign162889838528898385Human1name
127283538CV1103771single nucleotide variantNM_004320.6(ATP2A1):c.2475G>A (p.Lys825=)Brody myopathy [RCV001448591]likely benign162890233728902337Human1name
127258762CV1103772single nucleotide variantNM_004320.6(ATP2A1):c.2544C>A (p.Thr848=)Brody myopathy [RCV001427431]likely benign162890259928902599Human1name
127260387CV1103773single nucleotide variantNM_004320.6(ATP2A1):c.2574C>T (p.Tyr858=)Brody myopathy [RCV001438564]likely benign162890262928902629Human1name
127309381CV1125171single nucleotide variantNM_004320.6(ATP2A1):c.1311C>T (p.Val437=)Brody myopathy [RCV001463597]likely benign162889484528894845Human1name
127298338CV1125172single nucleotide variantNM_004320.6(ATP2A1):c.1386C>G (p.Leu462=)Brody myopathy [RCV001477883]likely benign162889492028894920Human1name
127331336CV1125173single nucleotide variantNM_004320.6(ATP2A1):c.2274G>A (p.Lys758=)Brody myopathy [RCV001471478]likely benign162890203628902036Human1name
127317301CV1125174single nucleotide variantNM_004320.6(ATP2A1):c.2700C>T (p.Ala900=)Brody myopathy [RCV001465822]likely benign162890286728902867Human1name
127332666CV1125175single nucleotide variantNM_004320.6(ATP2A1):c.2751C>T (p.Ser917=)Brody myopathy [RCV001472378]likely benign162890303628903036Human1name
127286508CV1146070single nucleotide variantNM_004320.6(ATP2A1):c.1620G>A (p.Pro540=)Brody myopathy [RCV001494308]likely benign162889830728898307Human1name
127299628CV1146071single nucleotide variantNM_004320.6(ATP2A1):c.1713G>A (p.Pro571=)Brody myopathy [RCV001498356]likely benign162889840028898400Human1name
127319072CV1146072single nucleotide variantNM_004320.6(ATP2A1):c.2649T>C (p.Phe883=)Brody myopathy [RCV001483722]likely benign162890281628902816Human1name
127312988CV1146073single nucleotide variantNM_004320.6(ATP2A1):c.2682C>T (p.Pro894=)Brody myopathy [RCV001481841]likely benign162890284928902849Human1name
127296183CV1146074single nucleotide variantNM_004320.6(ATP2A1):c.2764C>T (p.Leu922=)Brody myopathy [RCV001497417]likely benign162890304928903049Human1name
150406688CV1195056insertionNM_004320.6(ATP2A1):c.2525-30_2525-29insAnot provided [RCV001572095]likely benign162890255028902551Humanname
150547098CV1314049deletionNM_004320.6(ATP2A1):c.592del (p.Arg198fs)Brody myopathy [RCV001785142]pathogenic162888723228887232Human1name
150547178CV1314087single nucleotide variantNM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter)Brody myopathy [RCV001785180]pathogenic162887951428879514Human1name
151355744CV1326925single nucleotide variantNM_004320.6(ATP2A1):c.200T>G (p.Leu67Arg)Brody myopathy [RCV001822097]pathogenic162887956428879564Human1name
151750954CV1377755single nucleotide variantNM_004320.6(ATP2A1):c.139A>G (p.Lys47Glu)Brody myopathy [RCV001948132]uncertain significance162887950328879503Human1name
151743088CV1385631single nucleotide variantNM_004320.6(ATP2A1):c.1977C>T (p.Asp659=)Brody myopathy [RCV002042429]likely benign162890079328900793Human1name
151800880CV1404046single nucleotide variantNM_004320.6(ATP2A1):c.1767G>A (p.Thr589=)Brody myopathy [RCV001973897]uncertain significance162890058328900583Human1name
151864084CV1416423single nucleotide variantNM_004320.6(ATP2A1):c.2424C>T (p.Gly808=)Brody myopathy [RCV001997514]likely benign162890228628902286Human1name
151774953CV1424210single nucleotide variantNM_004320.6(ATP2A1):c.118G>A (p.Glu40Lys)Brody myopathy [RCV002025720]uncertain significance162887878928878789Human1name
151887282CV1426712single nucleotide variantNM_004320.6(ATP2A1):c.2367G>A (p.Pro789=)Brody myopathy [RCV002038154]likely benign|uncertain significance162890222928902229Human1name
151826132CV1447168single nucleotide variantNM_004320.6(ATP2A1):c.116A>G (p.Asn39Ser)Brody myopathy [RCV001870078]uncertain significance162887878728878787Human1name
152045660CV1525754single nucleotide variantNM_004320.6(ATP2A1):c.1237C>T (p.Leu413=)Brody myopathy [RCV002126625]likely benign162889455728894557Human1name
152169893CV1538762single nucleotide variantNM_004320.6(ATP2A1):c.2853C>T (p.Asp951=)Brody myopathy [RCV002182961]likely benign162890313828903138Human1name
152119349CV1558475single nucleotide variantNM_004320.6(ATP2A1):c.1191G>A (p.Lys397=)Brody myopathy [RCV002135506]likely benign162889451128894511Human1name
152094430CV1565772single nucleotide variantNM_004320.6(ATP2A1):c.2748G>A (p.Leu916=)Brody myopathy [RCV002151012]likely benign162890303328903033Human1name
152173794CV1568532single nucleotide variantNM_004320.6(ATP2A1):c.1263T>C (p.Asn421=)Brody myopathy [RCV002184295]likely benign162889458328894583Human1name
152068679CV1571253single nucleotide variantNM_004320.6(ATP2A1):c.1707C>G (p.Thr569=)Brody myopathy [RCV002129312]likely benign162889839428898394Human1name
152130135CV1582108single nucleotide variantNM_004320.6(ATP2A1):c.2028C>T (p.Phe676=)Brody myopathy [RCV002099371]likely benign162890084428900844Human1name
152133598CV1590217single nucleotide variantNM_004320.6(ATP2A1):c.1641G>A (p.Ala547=)Brody myopathy [RCV002218410]likely benign162889832828898328Human1name
152119088CV1600834single nucleotide variantNM_004320.6(ATP2A1):c.2640C>T (p.Asn880=)Brody myopathy [RCV002154024]likely benign162890280728902807Human1name
152050903CV1606996single nucleotide variantNM_004320.6(ATP2A1):c.1284C>T (p.Asn428=)Brody myopathy [RCV002108956]likely benign162889460428894604Human1name
152051232CV1607045single nucleotide variantNM_004320.6(ATP2A1):c.2868C>T (p.Ile956=)Brody myopathy [RCV002108995]likely benign162890332828903328Human1name
152048582CV1615005single nucleotide variantNM_004320.6(ATP2A1):c.1899T>C (p.Ile633=)Brody myopathy [RCV002088851]likely benign162890071528900715Human1name
152080712CV1619150single nucleotide variantNM_004320.6(ATP2A1):c.2340C>T (p.Ala780=)Brody myopathy [RCV002092802]likely benign162890220228902202Human1name
152074690CV1635291single nucleotide variantNM_004320.6(ATP2A1):c.2826C>G (p.Ser942=)Brody myopathy [RCV002092065]likely benign162890311128903111Human1name
152135073CV1638498single nucleotide variantNM_004320.6(ATP2A1):c.1410C>G (p.Ala470=)Brody myopathy [RCV002083394]likely benign162889494428894944Human1name
152066493CV1647025single nucleotide variantNM_004320.6(ATP2A1):c.2607G>A (p.Gln869=)Brody myopathy [RCV002129047]likely benign162890266228902662Human1name
152088802CV1655756single nucleotide variantNM_004320.6(ATP2A1):c.2835C>T (p.Phe945=)Brody myopathy [RCV002194020]likely benign162890312028903120Human1name
156410956CV1882888single nucleotide variantNM_004320.6(ATP2A1):c.1338C>T (p.Thr446=)Brody myopathy [RCV003072278]likely benign162889487228894872Human1name
156306100CV1930341single nucleotide variantNM_004320.6(ATP2A1):c.2487C>T (p.Ile829=)Brody myopathy [RCV002629502]likely benign162890234928902349Human1name
156442354CV1938580single nucleotide variantNM_004320.6(ATP2A1):c.242G>A (p.Gly81Asp)Brody myopathy [RCV003112695]uncertain significance162888093728880937Human1name
155910799CV1980141single nucleotide variantNM_004320.6(ATP2A1):c.2238T>C (p.Ala746=)Brody myopathy [RCV002613975]likely benign162890200028902000Human1name
156393720CV1983463single nucleotide variantNM_004320.6(ATP2A1):c.1675C>T (p.Leu559=)Brody myopathy [RCV002604922]likely benign162889836228898362Human1name
156177367CV1996753single nucleotide variantNM_004320.6(ATP2A1):c.209G>A (p.Cys70Tyr)Brody myopathy [RCV002642917]uncertain significance162887957328879573Human1name
156267644CV2026702single nucleotide variantNM_004320.6(ATP2A1):c.1848C>T (p.Asp616=)Brody myopathy [RCV002746529]likely benign162890066428900664Human1name
156126318CV2031220single nucleotide variantNM_004320.6(ATP2A1):c.2625G>A (p.Gln875=)Brody myopathy [RCV002740395]likely benign162890279228902792Human1name
155991031CV2049563single nucleotide variantNM_004320.6(ATP2A1):c.253A>G (p.Ile85Val)Brody myopathy [RCV002819206]uncertain significance162888094828880948Human1name
156261255CV2057176single nucleotide variantNM_004320.6(ATP2A1):c.2832C>T (p.His944=)Brody myopathy [RCV002792025]likely benign162890311728903117Human1name
155987398CV2091342single nucleotide variantNM_004320.6(ATP2A1):c.1803C>T (p.Asp601=)Brody myopathy [RCV002907991]likely benign162890061928900619Human1name
156066856CV2092892single nucleotide variantNM_004320.6(ATP2A1):c.2292C>T (p.Leu764=)Brody myopathy [RCV002886686]likely benign162890205428902054Human1name
156332205CV2112775single nucleotide variantNM_004320.6(ATP2A1):c.2229C>T (p.Ile743=)Brody myopathy [RCV002938432]likely benign|uncertain significance162890199128901991Human1name
156134217CV2118899single nucleotide variantNM_004320.6(ATP2A1):c.2377C>T (p.Leu793=)Brody myopathy [RCV002953990]likely benign162890223928902239Human1name
156134257CV2118900single nucleotide variantNM_004320.6(ATP2A1):c.2397C>T (p.Thr799=)Brody myopathy [RCV002953991]likely benign162890225928902259Human1name
156034373CV2123070single nucleotide variantNM_004320.6(ATP2A1):c.2580G>A (p.Glu860=)Brody myopathy [RCV002949367]likely benign162890263528902635Human1name
156355622CV2129879single nucleotide variantNM_004320.6(ATP2A1):c.1050C>T (p.Ser350=)Brody myopathy [RCV002966634]likely benign162888890828888908Human1name
156024937CV2139113single nucleotide variantNM_004320.6(ATP2A1):c.2544C>T (p.Thr848=)Brody myopathy [RCV002998868]likely benign162890259928902599Human1name
156362163CV2180500single nucleotide variantNM_004320.6(ATP2A1):c.241G>A (p.Gly81Ser)Brody myopathy [RCV003049101]uncertain significance162888093628880936Human1name
156126588CV2185684single nucleotide variantNM_004320.6(ATP2A1):c.1107T>C (p.Ile369=)Brody myopathy [RCV003055674]likely benign162889416628894166Human1name
156356635CV2188916single nucleotide variantNM_004320.6(ATP2A1):c.1914A>G (p.Arg638=)Brody myopathy [RCV003048734]likely benign162890073028900730Human1name
156374121CV2190792single nucleotide variantNM_004320.6(ATP2A1):c.2967G>C (p.Arg989=)Brody myopathy [RCV003049952]likely benign162890342728903427Human1name
243064812CV2411982single nucleotide variantNM_004320.6(ATP2A1):c.1710C>A (p.Pro570=)Brody myopathy [RCV003143640]uncertain significance162889839728898397Human1name
404977223CV2849678single nucleotide variantNM_004320.6(ATP2A1):c.185T>G (p.Val62Gly)Brody myopathy [RCV003486017]uncertain significance162887954928879549Human1name
405038849CV2926901single nucleotide variantNM_004320.6(ATP2A1):c.1587A>T (p.Arg529=)Brody myopathy [RCV003517767]likely benign162889827428898274Human1name
405051971CV2946989single nucleotide variantNM_004320.6(ATP2A1):c.1686G>A (p.Leu562=)Brody myopathy [RCV003631368]likely benign162889837328898373Human1name
405051983CV2946990single nucleotide variantNM_004320.6(ATP2A1):c.1695C>A (p.Ala565=)Brody myopathy [RCV003631369]likely benign162889838228898382Human1name
405057250CV3002132single nucleotide variantNM_004320.6(ATP2A1):c.1470C>T (p.Asp490=)Brody myopathy [RCV003631907]likely benign162889805028898050Human1name
405062779CV3043192single nucleotide variantNM_004320.6(ATP2A1):c.1699C>A (p.Arg567=)Brody myopathy [RCV003632434]likely benign162889838628898386Human1name
405064023CV3049131single nucleotide variantNM_004320.6(ATP2A1):c.1050C>G (p.Ser350=)Brody myopathy [RCV003632562]likely benign162888890828888908Human1name
405068719CV3077786single nucleotide variantNM_004320.6(ATP2A1):c.2820C>T (p.Ser940=)Brody myopathy [RCV003632966]likely benign162890310528903105Human1name
404998196CV3123938single nucleotide variantNM_004320.6(ATP2A1):c.2490T>C (p.Ser830=)Brody myopathy [RCV003827845]likely benign162890235228902352Human1name
405010509CV3128028single nucleotide variantNM_004320.6(ATP2A1):c.2073G>A (p.Leu691=)Brody myopathy [RCV003828908]likely benign162890088928900889Human1name
405252233CV3177678single nucleotide variantNM_004320.6(ATP2A1):c.1344G>A (p.Leu448=)Brody myopathy [RCV003870636]likely benign162889487828894878Human1name
402474290CV3182725single nucleotide variantNM_004320.6(ATP2A1):c.2940C>T (p.Leu980=)Brody myopathy [RCV003874968]likely benign162890340028903400Human1name
11625979CV324942single nucleotide variantNM_004320.6(ATP2A1):c.1809G>A (p.Pro603=)Brody myopathy [RCV000405128]|not provided [RCV002263009]|not specified [RCV000438887]benign|likely benign|conflicting interpretations of pathogenicity162890062528900625Human1name
11618493CV324944single nucleotide variantNM_004320.6(ATP2A1):c.1935C>T (p.Asn645=)Brody myopathy [RCV000314694]likely benign|conflicting interpretations of pathogenicity|uncertain significance162890075128900751Human1name
11625795CV324945single nucleotide variantNM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=)Brody myopathy [RCV000403220]conflicting interpretations of pathogenicity|uncertain significance162890089828900898Human1name
8566395CV32844deletionNM_004320.6(ATP2A1):c.440del (p.Pro147fs)Brody myopathy [RCV000019383]pathogenic162888256428882564Human1name
11618189CV334597single nucleotide variantNM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln)Brody myopathy [RCV000311761]|Inborn genetic diseases [RCV002522840]uncertain significance162887955228879552Human2name
11654515CV334609single nucleotide variantNM_004320.6(ATP2A1):c.1176G>A (p.Glu392=)Brody myopathy [RCV000318348]uncertain significance162889423528894235Human1name
11615721CV334610single nucleotide variantNM_004320.6(ATP2A1):c.1560C>T (p.Gly520=)ATP2A1-related disorder [RCV003957648]|Brody myopathy [RCV000288600]|not provided [RCV001718664]|not specified [RCV004999310]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance162889824728898247Human1name , trait , alternate_id
11624995CV334612single nucleotide variantNM_004320.6(ATP2A1):c.1722G>A (p.Glu574=)Brody myopathy [RCV000393667]|not provided [RCV000827239]likely benign|conflicting interpretations of pathogenicity|uncertain significance162889840928898409Human1name
11660684CV334617single nucleotide variantNM_004320.6(ATP2A1):c.1941G>A (p.Glu647=)Brody myopathy [RCV000369513]uncertain significance162890075728900757Human1name
11613124CV334622single nucleotide variantNM_004320.6(ATP2A1):c.2310C>T (p.Gly770=)Brody myopathy [RCV000265762]|not provided [RCV004791408]conflicting interpretations of pathogenicity|uncertain significance162890207228902072Human1name
11654795CV334627single nucleotide variantNM_004320.6(ATP2A1):c.2343G>A (p.Leu781=)Brody myopathy [RCV000320864]|not provided [RCV000489693]uncertain significance162890220528902205Human1name
11623885CV341118single nucleotide variantNM_004320.6(ATP2A1):c.1329A>G (p.Thr443=)ATP2A1-related disorder [RCV003920345]|Brody myopathy [RCV000378859]|not provided [RCV000425508]likely benign|conflicting interpretations of pathogenicity|uncertain significance162889486328894863Human1name , trait , alternate_id
597628110CV3613185single nucleotide variantNM_004320.6(ATP2A1):c.165G>C (p.Glu55Asp)Inborn genetic diseases [RCV004966732]uncertain significance162887952928879529Human1name
597850948CV3746959single nucleotide variantNM_004320.6(ATP2A1):c.1671C>T (p.Asp557=)Brody myopathy [RCV005060587]likely benign162889835828898358Human1name
12842051CV375056single nucleotide variantNM_004320.6(ATP2A1):c.272C>T (p.Pro91Leu)Brody myopathy [RCV001117784]|not provided [RCV000433709]uncertain significance162888096728880967Human1name
12838137CV375364single nucleotide variantNM_004320.6(ATP2A1):c.1851C>T (p.Ala617=)Brody myopathy [RCV001494240]|not provided [RCV000527913]likely benign162890066728900667Human1name
12845341CV375368single nucleotide variantNM_004320.6(ATP2A1):c.1974C>T (p.Phe658=)Brody myopathy [RCV000541745]|not provided [RCV001704451]|not specified [RCV000439639]benign|likely benign162890079028900790Human1name
12845910CV375370single nucleotide variantNM_004320.6(ATP2A1):c.2862G>A (p.Pro954=)not provided [RCV000440661]uncertain significance162890314728903147Humanname
12848144CV377487single nucleotide variantNM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly)Brody myopathy [RCV003144259]|not provided [RCV000444756]uncertain significance162888094028880940Human1name
12837082CV377489single nucleotide variantNM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=)ATP2A1-related disorder [RCV003912692]|Brody myopathy [RCV000525108]|not provided [RCV001311438]|not specified [RCV000424551]benign|likely benign|conflicting interpretations of pathogenicity162889422628894226Human2name , trait , alternate_id
12837082CV377489single nucleotide variantNM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=)ATP2A1-related disorder [RCV003912692]|Brody myopathy [RCV000525108]|not provided [RCV001311438]|not specified [RCV000424551]benign|likely benign|conflicting interpretations of pathogenicity162889422628894227Human2name , trait , alternate_id
12841524CV377494single nucleotide variantNM_004320.6(ATP2A1):c.2634G>A (p.Glu878=)Brody myopathy [RCV001435931]|not specified [RCV000432734]likely benign162890280128902801Human1name
597901506CV3779112deletionNM_004320.6(ATP2A1):c.787del (p.Val263fs)Brody myopathy [RCV005127189]pathogenic162888758028887580Human1name
597889701CV3788132single nucleotide variantNM_004320.6(ATP2A1):c.1713G>T (p.Pro571=)Brody myopathy [RCV005125490]likely benign162889840028898400Human1name
597975762CV3799342single nucleotide variantNM_004320.6(ATP2A1):c.2304C>T (p.Asn768=)Brody myopathy [RCV005144738]likely benign162890206628902066Human1name
597885777CV3800022single nucleotide variantNM_004320.6(ATP2A1):c.2211C>T (p.Asp737=)Brody myopathy [RCV005150501]likely benign162890197328901973Human1name
597905822CV3803892single nucleotide variantNM_004320.6(ATP2A1):c.238G>A (p.Glu80Lys)Brody myopathy [RCV005153437]uncertain significance162888093328880933Human1name
597963827CV3830306single nucleotide variantNM_004320.6(ATP2A1):c.2800C>T (p.Leu934=)Brody myopathy [RCV005164446]likely benign162890308528903085Human1name
597901075CV3835323single nucleotide variantNM_004320.6(ATP2A1):c.1407C>T (p.Asn469=)Brody myopathy [RCV005181045]likely benign162889494128894941Human1name
597868918CV3838935single nucleotide variantNM_004320.6(ATP2A1):c.1851C>A (p.Ala617=)Brody myopathy [RCV005176231]likely benign162890066728900667Human1name
597960773CV3840318single nucleotide variantNM_004320.6(ATP2A1):c.1422G>C (p.Val474=)Brody myopathy [RCV005192802]likely benign162889800228898002Human1name
597961916CV3840876single nucleotide variantNM_004320.6(ATP2A1):c.1947C>T (p.Ala649=)Brody myopathy [RCV005193169]likely benign162890076328900763Human1name
597918294CV3842424single nucleotide variantNM_004320.6(ATP2A1):c.1257C>T (p.Leu419=)Brody myopathy [RCV005183909]likely benign162889457728894577Human1name
597904108CV3846103single nucleotide variantNM_004320.6(ATP2A1):c.1824G>A (p.Thr608=)Brody myopathy [RCV005181725]likely benign162890064028900640Human1name
13469949CV441893single nucleotide variantNM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)ATP2A1-related disorder [RCV003900067]|Brody myopathy [RCV000779180]|not provided [RCV000516624]pathogenic|conflicting interpretations of pathogenicity|uncertain significance162887877128878771Human1name , trait , alternate_id
13473876CV465599single nucleotide variantNM_004320.6(ATP2A1):c.1224C>T (p.Asp408=)Brody myopathy [RCV000541172]likely benign162889454428894544Human1name
13475470CV466321single nucleotide variantNM_004320.6(ATP2A1):c.109G>A (p.Gly37Ser)Brody myopathy [RCV000551373]|Inborn genetic diseases [RCV004023975]|not provided [RCV002298652]uncertain significance162887878028878780Human2name
13474129CV466328single nucleotide variantNM_004320.6(ATP2A1):c.1419G>A (p.Ser473=)Brody myopathy [RCV000542880]|not provided [RCV004791545]uncertain significance162889495328894953Human1name
13476131CV466352single nucleotide variantNM_004320.6(ATP2A1):c.2121C>T (p.Asp707=)Brody myopathy [RCV000555678]|not provided [RCV003419951]likely benign162890188328901883Human1name
13504106CV466607single nucleotide variantNM_004320.6(ATP2A1):c.1218G>A (p.Gln406=)Brody myopathy [RCV000555119]|not provided [RCV001697023]likely benign162889453828894538Human1name
13473837CV466622single nucleotide variantNM_004320.6(ATP2A1):c.2112C>T (p.Gly704=)Brody myopathy [RCV001456377]likely benign162890187428901874Human1name
13527078CV505354single nucleotide variantNM_004320.6(ATP2A1):c.2361G>T (p.Leu787=)not specified [RCV000604983]likely benign162890222328902223Humanname
13526536CV505557single nucleotide variantNM_004320.6(ATP2A1):c.1800G>A (p.Leu600=)ATP2A1-related disorder [RCV003945513]|Brody myopathy [RCV001501344]|not specified [RCV000604257]likely benign162890061628900616Human1name , trait , alternate_id
13539887CV505775single nucleotide variantNM_004320.6(ATP2A1):c.1323C>T (p.Thr441=)Brody myopathy [RCV002066617]|not specified [RCV000613892]likely benign162889485728894857Human1name
13533110CV505783single nucleotide variantNM_004320.6(ATP2A1):c.1389G>A (p.Ser463=)Brody myopathy [RCV003517248]|not specified [RCV000606998]likely benign162889492328894923Human1name
13539764CV505787single nucleotide variantNM_004320.6(ATP2A1):c.1506A>G (p.Lys502=)not specified [RCV000613723]likely benign162889808628898086Humanname
13526162CV505789single nucleotide variantNM_004320.6(ATP2A1):c.2706C>T (p.Ser902=)Brody myopathy [RCV001441233]|not specified [RCV000603757]likely benign162890287328902873Human1name
13538472CV505793single nucleotide variantNM_004320.6(ATP2A1):c.2772G>A (p.Arg924=)Brody myopathy [RCV002531519]|not specified [RCV000611883]likely benign162890305728903057Human1name
13607731CV529894single nucleotide variantNM_004320.6(ATP2A1):c.1158C>T (p.Gly386=)Brody myopathy [RCV000639615]likely benign162889421728894217Human1name
13607728CV529896single nucleotide variantNM_004320.6(ATP2A1):c.2046G>A (p.Ser682=)ATP2A1-related disorder [RCV003953137]|Brody myopathy [RCV000639617]likely benign162890086228900862Human1name , trait , alternate_id
13607732CV529981single nucleotide variantNM_004320.6(ATP2A1):c.2943C>T (p.Asp981=)ATP2A1-related disorder [RCV003892448]|Brody myopathy [RCV000639614]likely benign162890340328903403Human1name , trait , alternate_id
13607666CV530408single nucleotide variantNM_004320.6(ATP2A1):c.2535T>C (p.Gly845=)Brody myopathy [RCV000639609]likely benign162890259028902590Human1name
13705862CV536902single nucleotide variantNM_004320.6(ATP2A1):c.1287G>A (p.Glu429=)Brody myopathy [RCV001816658]|not provided [RCV000658413]pathogenic|uncertain significance162889460728894607Human1name
14716230CV644543single nucleotide variantNM_004320.6(ATP2A1):c.208T>C (p.Cys70Arg)Brody myopathy [RCV000803096]uncertain significance162887957228879572Human1name
14715411CV644544single nucleotide variantNM_004320.6(ATP2A1):c.251C>T (p.Thr84Ile)Brody myopathy [RCV000800496]uncertain significance162888094628880946Human1name
14714412CV644545single nucleotide variantNM_004320.6(ATP2A1):c.295A>C (p.Ile99Leu)Brody myopathy [RCV000796561]|Inborn genetic diseases [RCV002534603]uncertain significance162888099028880990Human2name
14701481CV644546single nucleotide variantNM_004320.6(ATP2A1):c.296T>C (p.Ile99Thr)Brody myopathy [RCV000816752]uncertain significance162888099128880991Human1name
14715404CV644560single nucleotide variantNM_004320.6(ATP2A1):c.1962G>A (p.Thr654=)Brody myopathy [RCV000800472]conflicting interpretations of pathogenicity|uncertain significance162890077828900778Human1name
14710166CV656369single nucleotide variantNM_004320.6(ATP2A1):c.1296T>C (p.Gly432=)not provided [RCV000827625]likely benign162889483028894830Humanname
15137499CV693836single nucleotide variantNM_004320.6(ATP2A1):c.1014C>T (p.Ser338=)Brody myopathy [RCV005056653]likely benign162888887228888872Human1name
15131424CV693837single nucleotide variantNM_004320.6(ATP2A1):c.1566C>T (p.Ile522=)Brody myopathy [RCV000875984]likely benign162889825328898253Human1name
15125624CV693839single nucleotide variantNM_004320.6(ATP2A1):c.1953C>T (p.Arg651=)Brody myopathy [RCV000874985]likely benign162890076928900769Human1name
15133034CV693840single nucleotide variantNM_004320.6(ATP2A1):c.2253C>T (p.Arg751=)Brody myopathy [RCV003768720]likely benign162890201528902015Human1name
15147494CV693841single nucleotide variantNM_004320.6(ATP2A1):c.2400C>T (p.Asp800=)Brody myopathy [RCV001488385]likely benign162890226228902262Human1name
15133460CV693842single nucleotide variantNM_004320.6(ATP2A1):c.2457C>T (p.Arg819=)Brody myopathy [RCV000876316]likely benign162890231928902319Human1name
15125860CV693843single nucleotide variantNM_004320.6(ATP2A1):c.2631C>T (p.Thr877=)Brody myopathy [RCV000875022]likely benign162890279828902798Human1name
15187085CV726557single nucleotide variantNM_004320.6(ATP2A1):c.2334C>T (p.Thr778=)Brody myopathy [RCV000887157]likely benign162890219628902196Human1name
15200484CV726558single nucleotide variantNM_004320.6(ATP2A1):c.2520C>T (p.Ile840=)ATP2A1-related disorder [RCV003957946]|Brody myopathy [RCV000890926]likely benign162890238228902382Human1name , trait , alternate_id
15130352CV740093single nucleotide variantNM_004320.6(ATP2A1):c.1254C>T (p.Ala418=)Brody myopathy [RCV001463981]likely benign162889457428894574Human1name
15165528CV755080single nucleotide variantNM_004320.6(ATP2A1):c.1006T>C (p.Leu336=)Brody myopathy [RCV001483808]likely benign162888886428888864Human1name
15162210CV755081single nucleotide variantNM_004320.6(ATP2A1):c.1998G>A (p.Gln666=)Brody myopathy [RCV001501841]likely benign162890081428900814Human1name
15164674CV755082single nucleotide variantNM_004320.6(ATP2A1):c.2157C>T (p.Ala719=)not provided [RCV000926440]likely benign162890191928901919Humanname
15200141CV755083single nucleotide variantNM_004320.6(ATP2A1):c.2958C>T (p.Phe986=)Brody myopathy [RCV002065837]likely benign162890341828903418Human1name
15198580CV770839single nucleotide variantNM_004320.6(ATP2A1):c.1302T>C (p.Tyr434=)Brody myopathy [RCV000934856]|not specified [RCV004997510]likely benign162889483628894836Human1name
15141860CV770840single nucleotide variantNM_004320.6(ATP2A1):c.1620G>T (p.Pro540=)Brody myopathy [RCV001500184]likely benign162889830728898307Human1name
15200878CV770841single nucleotide variantNM_004320.6(ATP2A1):c.1749G>A (p.Arg583=)Brody myopathy [RCV001455152]likely benign162889843628898436Human1name
15176449CV770842single nucleotide variantNM_004320.6(ATP2A1):c.2721C>T (p.Ile907=)Brody myopathy [RCV001463553]|not provided [RCV000928920]likely benign162890288828902888Human1name
15144264CV785250single nucleotide variantNM_004320.6(ATP2A1):c.2175C>T (p.Ala725=)Brody myopathy [RCV000983462]likely benign162890193728901937Human1name
28892457CV875077single nucleotide variantNM_004320.6(ATP2A1):c.1113G>A (p.Lys371=)Brody myopathy [RCV001121352]conflicting interpretations of pathogenicity|uncertain significance162889417228894172Human1name
28876923CV875078single nucleotide variantNM_004320.6(ATP2A1):c.1314C>T (p.Gly438=)Brody myopathy [RCV001116434]conflicting interpretations of pathogenicity|uncertain significance162889484828894848Human1name
38492371CV957725single nucleotide variantNM_004320.6(ATP2A1):c.128C>T (p.Ala43Val)Brody myopathy [RCV001240041]|Inborn genetic diseases [RCV002567942]|not provided [RCV002265014]uncertain significance162887910828879108Human2name
126761084CV1012075single nucleotide variantNM_004320.6(ATP2A1):c.847G>A (p.Val283Ile)Brody myopathy [RCV001318533]uncertain significance162888764128887641Human1name
126749893CV1012076single nucleotide variantNM_004320.6(ATP2A1):c.958G>T (p.Ala320Ser)Brody myopathy [RCV001326625]uncertain significance162888881628888816Human1name
126731099CV1021438single nucleotide variantNM_004320.6(ATP2A1):c.667G>A (p.Val223Met)Brody myopathy [RCV001333624]uncertain significance162888746128887461Human1name
8643453CV102436deletionNM_004320.6(ATP2A1):c.2595del (p.Asn866fs)not provided [RCV000082697]pathogenic|uncertain significance162890265028902650Humanname
8643454CV102437duplicationNM_004320.6(ATP2A1):c.2774dup (p.Met925fs)not provided [RCV000082698]pathogenic|likely pathogenic|uncertain significance162890305828903059Humanname
126922997CV1049557single nucleotide variantNM_004320.6(ATP2A1):c.334G>A (p.Ala112Thr)Brody myopathy [RCV001365340]uncertain significance162888246028882460Human1name
126919242CV1049558single nucleotide variantNM_004320.6(ATP2A1):c.349G>A (p.Glu117Lys)Brody myopathy [RCV001362183]uncertain significance162888247528882475Human1name
150528836CV1288521single nucleotide variantNM_004320.6(ATP2A1):c.445G>A (p.Asp149Asn)not provided [RCV001726989]uncertain significance162888257128882571Humanname
150554311CV1295730single nucleotide variantNM_004320.6(ATP2A1):c.766T>G (p.Phe256Val)Brody myopathy [RCV003146232]|not provided [RCV001770960]uncertain significance162888756028887560Human1name
150554558CV1304271single nucleotide variantNM_004320.6(ATP2A1):c.997G>A (p.Val333Ile)not provided [RCV001771241]uncertain significance162888885528888855Humanname
150547114CV1314057single nucleotide variantNM_004320.6(ATP2A1):c.706C>T (p.Arg236Ter)Brody myopathy [RCV001785150]pathogenic162888750028887500Human1name
150547122CV1314063deletionNM_004320.6(ATP2A1):c.2249del (p.Gly750fs)Brody myopathy [RCV001785156]pathogenic162890200928902009Humanname
150536727CV1314239deletionNM_004320.6(ATP2A1):c.2682del (p.Glu895fs)Brody myopathy [RCV001780664]likely pathogenic162890284528902845Human1name
151355745CV1326926single nucleotide variantNM_004320.6(ATP2A1):c.704T>A (p.Ile235Asn)Brody myopathy [RCV001822098]pathogenic162888749828887498Human1name
151792123CV1341398single nucleotide variantNM_004320.6(ATP2A1):c.757C>A (p.Leu253Met)Brody myopathy [RCV001866345]uncertain significance162888755128887551Human1name
151866673CV1342231single nucleotide variantNM_004320.6(ATP2A1):c.356T>C (p.Leu119Pro)Brody myopathy [RCV001997817]uncertain significance162888248228882482Human1name
151876620CV1344940single nucleotide variantNM_004320.6(ATP2A1):c.841G>A (p.Asp281Asn)Brody myopathy [RCV001999015]uncertain significance162888763528887635Human1name
151794137CV1348104single nucleotide variantNM_004320.6(ATP2A1):c.448A>T (p.Ile150Phe)Brody myopathy [RCV001876784]uncertain significance162888257428882574Human1name
151803620CV1351841single nucleotide variantNM_004320.6(ATP2A1):c.898G>A (p.Val300Met)Brody myopathy [RCV001974133]uncertain significance162888769228887692Human1name
151667561CV1353962single nucleotide variantNM_004320.6(ATP2A1):c.919A>G (p.Ile307Val)Brody myopathy [RCV001963794]uncertain significance162888771328887713Human1name
151731573CV1355488single nucleotide variantNM_004320.6(ATP2A1):c.302A>G (p.Asn101Ser)Brody myopathy [RCV001984260]uncertain significance162888099728880997Human1name
151772121CV1367006single nucleotide variantNM_004320.6(ATP2A1):c.883T>C (p.Tyr295His)Brody myopathy [RCV001988339]uncertain significance162888767728887677Human1name
151835959CV1382979single nucleotide variantNM_004320.6(ATP2A1):c.451G>A (p.Val151Met)Brody myopathy [RCV001935557]|Inborn genetic diseases [RCV004681320]uncertain significance162888257728882577Human2name
151834073CV1412950single nucleotide variantNM_004320.6(ATP2A1):c.527A>T (p.Asp176Val)Brody myopathy [RCV002014595]uncertain significance162888463828884638Human1name
151773296CV1427775single nucleotide variantNM_004320.6(ATP2A1):c.440C>G (p.Pro147Arg)Brody myopathy [RCV001915189]uncertain significance162888256628882566Human1name
151842312CV1438341single nucleotide variantNM_004320.6(ATP2A1):c.840C>A (p.Asn280Lys)Brody myopathy [RCV001921678]|not provided [RCV002281201]uncertain significance162888763428887634Human1name
151757173CV1438659duplicationNM_004320.6(ATP2A1):c.888dup (p.Lys297Ter)Brody myopathy [RCV002007448]pathogenic162888767928887680Human1name
151837741CV1469914single nucleotide variantNM_004320.6(ATP2A1):c.857G>A (p.Gly286Asp)Brody myopathy [RCV001880983]uncertain significance162888765128887651Human1name
151887119CV1471896single nucleotide variantNM_004320.6(ATP2A1):c.474A>T (p.Lys158Asn)Brody myopathy [RCV002000819]uncertain significance162888458528884585Human1name
151781833CV1486770single nucleotide variantNM_004320.6(ATP2A1):c.361G>A (p.Glu121Lys)Brody myopathy [RCV001915951]uncertain significance162888248728882487Human1name
151719716CV1498119single nucleotide variantNM_004320.6(ATP2A1):c.553G>A (p.Val185Ile)Brody myopathy [RCV001965779]uncertain significance162888719728887197Human1name
151773838CV1504883single nucleotide variantNM_004320.6(ATP2A1):c.664A>G (p.Ile222Val)Brody myopathy [RCV002009101]uncertain significance162888745828887458Human1name
151811185CV1506675single nucleotide variantNM_004320.6(ATP2A1):c.391C>T (p.Arg131Trp)Brody myopathy [RCV001918626]|Inborn genetic diseases [RCV004970485]uncertain significance162888251728882517Human2name
151728415CV1515722single nucleotide variantNM_004320.6(ATP2A1):c.689C>T (p.Thr230Ile)Brody myopathy [RCV001983947]uncertain significance162888748328887483Human1name
155670396CV1770994single nucleotide variantNM_004320.6(ATP2A1):c.564C>G (p.Ile188Met)Brody myopathy [RCV002297315]uncertain significance162888720828887208Human1name
155717735CV1775465single nucleotide variantNM_004320.6(ATP2A1):c.808G>T (p.Ala270Ser)Brody myopathy [RCV002301144]uncertain significance162888760228887602Human1name
156048578CV1868881single nucleotide variantNM_004320.6(ATP2A1):c.499G>A (p.Ala167Thr)Brody myopathy [RCV003052918]uncertain significance162888461028884610Human1name
156281615CV1896822single nucleotide variantNM_004320.6(ATP2A1):c.524T>G (p.Val175Gly)Brody myopathy [RCV003087136]uncertain significance162888463528884635Human1name
156181569CV1898039single nucleotide variantNM_004320.6(ATP2A1):c.547G>A (p.Glu183Lys)Brody myopathy [RCV002595078]uncertain significance162888719128887191Human1name
155941593CV1902151single nucleotide variantNM_004320.6(ATP2A1):c.329G>T (p.Arg110Leu)Brody myopathy [RCV003073575]uncertain significance162888245528882455Human1name
155939723CV1913506single nucleotide variantNM_004320.6(ATP2A1):c.827T>C (p.Ile276Thr)Brody myopathy [RCV002615548]uncertain significance162888762128887621Human1name
156326537CV1982103single nucleotide variantNM_004320.6(ATP2A1):c.593G>T (p.Arg198Leu)Brody myopathy [RCV002649588]uncertain significance162888723728887237Human1name
156183156CV1997612single nucleotide variantNM_004320.6(ATP2A1):c.466G>A (p.Gly156Arg)Brody myopathy [RCV002643087]uncertain significance162888457728884577Human1name
156054891CV2023804single nucleotide variantNM_004320.6(ATP2A1):c.610A>T (p.Lys204Ter)Brody myopathy [RCV002736631]pathogenic162888725428887254Human1name
155947301CV2062323single nucleotide variantNM_004320.6(ATP2A1):c.496C>T (p.Leu166Phe)Brody myopathy [RCV002816062]uncertain significance162888460728884607Human1name
156282073CV2071130single nucleotide variantNM_004320.6(ATP2A1):c.367G>C (p.Glu123Gln)Brody myopathy [RCV002856419]uncertain significance162888249328882493Human1name
156212752CV2074328single nucleotide variantNM_004320.6(ATP2A1):c.811G>C (p.Val271Leu)Brody myopathy [RCV002829363]uncertain significance162888760528887605Human1name
156337865CV2096052single nucleotide variantNM_004320.6(ATP2A1):c.420C>G (p.Ile140Met)Brody myopathy [RCV002900309]uncertain significance162888254628882546Human1name
156194662CV2099148single nucleotide variantNM_004320.6(ATP2A1):c.707G>A (p.Arg236Gln)Brody myopathy [RCV002917568]uncertain significance162888750128887501Human1name
156272740CV2131673single nucleotide variantNM_004320.6(ATP2A1):c.307A>G (p.Ile103Val)Brody myopathy [RCV002988878]uncertain significance162888100228881002Human1name
156341376CV2179856single nucleotide variantNM_004320.6(ATP2A1):c.916G>T (p.Ala306Ser)Brody myopathy [RCV003030301]uncertain significance162888771028887710Human1name
155964881CV2179963single nucleotide variantNM_004320.6(ATP2A1):c.655G>A (p.Ala219Thr)Brody myopathy [RCV003033117]uncertain significance162888744928887449Human1name
156117847CV2183076single nucleotide variantNM_004320.6(ATP2A1):c.836T>C (p.Phe279Ser)Brody myopathy [RCV003039197]uncertain significance162888763028887630Human1name
156376669CV2189030single nucleotide variantNM_004320.6(ATP2A1):c.299C>T (p.Ala100Val)Brody myopathy [RCV003050158]uncertain significance162888099428880994Human1name
156179993CV2201703single nucleotide variantNM_004320.6(ATP2A1):c.562A>G (p.Ile188Val)Brody myopathy [RCV003143532]|Inborn genetic diseases [RCV002665244]uncertain significance162888720628887206Human2name
155930729CV2224792single nucleotide variantNM_004320.6(ATP2A1):c.343G>A (p.Ala115Thr)Inborn genetic diseases [RCV002728721]uncertain significance162888246928882469Human1name
156097506CV2310271single nucleotide variantNM_004320.6(ATP2A1):c.559G>A (p.Val187Ile)Inborn genetic diseases [RCV002888419]uncertain significance162888720328887203Human1name
243064788CV2411958single nucleotide variantNM_004320.6(ATP2A1):c.401G>A (p.Arg134His)Brody myopathy [RCV003143616]uncertain significance162888252728882527Human1name
243064789CV2411959single nucleotide variantNM_004320.6(ATP2A1):c.632G>T (p.Gly211Val)Brody myopathy [RCV003143617]uncertain significance162888742628887426Human1name
243064794CV2411964single nucleotide variantNM_004320.6(ATP2A1):c.856G>A (p.Gly286Ser)Brody myopathy [RCV003143622]uncertain significance162888765028887650Human1name
243064795CV2411965single nucleotide variantNM_004320.6(ATP2A1):c.554T>C (p.Val185Ala)Brody myopathy [RCV003143623]uncertain significance162888719828887198Human1name
243064799CV2411969single nucleotide variantNM_004320.6(ATP2A1):c.730C>A (p.Gln244Lys)Brody myopathy [RCV003143627]uncertain significance162888752428887524Human1name
243064800CV2411970single nucleotide variantNM_004320.6(ATP2A1):c.649G>A (p.Gly217Ser)Brody myopathy [RCV003143628]|not provided [RCV004697270]uncertain significance162888744328887443Human1name
243064801CV2411971single nucleotide variantNM_004320.6(ATP2A1):c.436G>A (p.Val146Ile)Brody myopathy [RCV003143629]uncertain significance162888256228882562Human1name
243064802CV2411972single nucleotide variantNM_004320.6(ATP2A1):c.790A>G (p.Ile264Val)Brody myopathy [RCV003143630]|Inborn genetic diseases [RCV004963574]uncertain significance162888758428887584Human2name
243064804CV2411974single nucleotide variantNM_004320.6(ATP2A1):c.973C>T (p.Arg325Trp)Brody myopathy [RCV003143632]uncertain significance162888883128888831Human1name
243064808CV2411978single nucleotide variantNM_004320.6(ATP2A1):c.671C>G (p.Ala224Gly)Brody myopathy [RCV003143636]uncertain significance162888746528887465Human1name
401962792CV2845414single nucleotide variantNM_004320.6(ATP2A1):c.352G>C (p.Ala118Pro)not provided [RCV003482875]uncertain significance162888247828882478Humanname
404977224CV2849679single nucleotide variantNM_004320.6(ATP2A1):c.520C>T (p.Arg174Trp)Brody myopathy [RCV003486018]uncertain significance162888463128884631Human1name
405031528CV2915271duplicationNM_004320.6(ATP2A1):c.1712dup (p.Lys572fs)Brody myopathy [RCV003516877]pathogenic162889839228898393Human1name
405228552CV3180334deletionNM_004320.6(ATP2A1):c.1712del (p.Pro571fs)Brody myopathy [RCV003864754]pathogenic162889839328898393Human1name
405289265CV3205075single nucleotide variantNM_004320.6(ATP2A1):c.343G>T (p.Ala115Ser)ATP2A1-related disorder [RCV003961687]uncertain significance162888246928882469Humanname , trait , alternate_id
11612867CV324941single nucleotide variantNM_004320.6(ATP2A1):c.937G>A (p.Ala313Thr)Brody myopathy [RCV000263051]uncertain significance162888879528888795Human1name
8566392CV32841single nucleotide variantNM_004320.6(ATP2A1):c.592C>T (p.Arg198Ter)Brody myopathy [RCV000019380]pathogenic162888723628887236Human1name
407522084CV3492651single nucleotide variantNM_004320.6(ATP2A1):c.826A>G (p.Ile276Val)Inborn genetic diseases [RCV004677545]uncertain significance162888762028887620Human1name
407509648CV3496492single nucleotide variantNM_004320.6(ATP2A1):c.970C>T (p.Arg324Cys)not provided [RCV004698333]uncertain significance162888882828888828Humanname
597628106CV3613144single nucleotide variantNM_004320.6(ATP2A1):c.967A>T (p.Thr323Ser)Inborn genetic diseases [RCV004966730]uncertain significance162888882528888825Human1name
597628109CV3613174single nucleotide variantNM_004320.6(ATP2A1):c.742C>T (p.Pro248Ser)Inborn genetic diseases [RCV004966731]uncertain significance162888753628887536Human1name
12842766CV374320single nucleotide variantNM_004320.6(ATP2A1):c.422A>G (p.Lys141Arg)Brody myopathy [RCV001865398]|not provided [RCV000435019]uncertain significance162888254828882548Human1name
12844908CV375058single nucleotide variantNM_004320.6(ATP2A1):c.640A>G (p.Ile214Val)Brody myopathy [RCV001865404]|Inborn genetic diseases [RCV005286081]|not provided [RCV000767192]|not specified [RCV000438836]uncertain significance162888743428887434Human2name
12833088CV375360single nucleotide variantNM_004320.6(ATP2A1):c.839A>G (p.Asn280Ser)Brody myopathy [RCV000535655]|not provided [RCV001721337]|not specified [RCV000417845]benign|likely benign|uncertain significance162888763328887633Human1name
597922034CV3777450single nucleotide variantNM_004320.6(ATP2A1):c.925G>A (p.Glu309Lys)Brody myopathy [RCV005130379]uncertain significance162888771928887719Human1name
597890172CV3839703duplicationNM_004320.6(ATP2A1):c.1086dup (p.Val363fs)Brody myopathy [RCV005179595]pathogenic162888894328888944Human1name
597935159CV3863638single nucleotide variantNM_004320.6(ATP2A1):c.440C>T (p.Pro147Leu)not provided [RCV005207451]uncertain significance162888256628882566Humanname
598224224CV3920261single nucleotide variantNM_004320.6(ATP2A1):c.641T>C (p.Ile214Thr)Inborn genetic diseases [RCV005294068]uncertain significance162888743528887435Human1name
598224271CV3920270single nucleotide variantNM_004320.6(ATP2A1):c.730C>G (p.Gln244Glu)Inborn genetic diseases [RCV005294077]uncertain significance162888752428887524Human1name
598224346CV3920290single nucleotide variantNM_004320.6(ATP2A1):c.342C>A (p.Asn114Lys)Inborn genetic diseases [RCV005294091]uncertain significance162888246828882468Human1name
598164540CV3920296single nucleotide variantNM_004320.6(ATP2A1):c.929G>C (p.Gly310Ala)Inborn genetic diseases [RCV005283309]uncertain significance162888878728888787Human1name
598190791CV4008880deletionNM_004320.6(ATP2A1):c.2865del (p.Met955fs)Brody myopathy [RCV005396381]likely pathogenic162890332528903325Human1name
12913109CV422089single nucleotide variantNM_004320.6(ATP2A1):c.691G>A (p.Glu231Lys)Brody myopathy [RCV003144290]|not provided [RCV000493400]uncertain significance162888748528887485Human1name
12913686CV422090single nucleotide variantNM_004320.6(ATP2A1):c.871G>A (p.Gly291Arg)Brody myopathy [RCV001351111]|not provided [RCV000494126]uncertain significance162888766528887665Human1name
13488146CV445557single nucleotide variantNM_004320.6(ATP2A1):c.580G>A (p.Val194Ile)Brody myopathy [RCV001211752]|Inborn genetic diseases [RCV002525223]|not provided [RCV000523470]uncertain significance162888722428887224Human2name
13474773CV466323single nucleotide variantNM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln)Brody myopathy [RCV000547197]|not provided [RCV004691871]conflicting interpretations of pathogenicity|uncertain significance162888255428882554Human1name
13473218CV466350single nucleotide variantNM_004320.6(ATP2A1):c.362A>G (p.Glu121Gly)Brody myopathy [RCV000537002]uncertain significance162888248828882488Human1name
13474328CV466354duplicationNM_004320.6(ATP2A1):c.2464dup (p.Arg822fs)ATP2A1-related disorder [RCV003392382]|Brody myopathy [RCV000544224]|not provided [RCV000598958]pathogenic|likely pathogenic162890231828902319Human1name , trait , alternate_id
13472102CV466356deletionNM_004320.6(ATP2A1):c.2464del (p.Arg822fs)Brody myopathy [RCV000529448]|not provided [RCV000598570]pathogenic|likely pathogenic162890231928902319Human1name
13607667CV529975single nucleotide variantNM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn)ATP2A1-related disorder [RCV003928079]|Brody myopathy [RCV000639611]|Inborn genetic diseases [RCV002533241]likely benign|conflicting interpretations of pathogenicity|uncertain significance162888752728887527Human2name , trait , alternate_id
13808805CV568063single nucleotide variantNM_004320.6(ATP2A1):c.329G>A (p.Arg110Gln)Brody myopathy [RCV000701840]uncertain significance162888245528882455Human1name
13817537CV568066single nucleotide variantNM_004320.6(ATP2A1):c.550T>G (p.Ser184Ala)Brody myopathy [RCV000693087]uncertain significance162888719428887194Human1name
13805430CV574013microsatelliteNM_004320.6(ATP2A1):c.57_60del (p.Ser19fs)Brody myopathy [RCV000700070]pathogenic162887872328878726Humanname
13812877CV574017single nucleotide variantNM_004320.6(ATP2A1):c.433A>G (p.Ile145Val)Brody myopathy [RCV000703994]uncertain significance162888255928882559Human1name
13810052CV574024single nucleotide variantNM_004320.6(ATP2A1):c.521G>A (p.Arg174Gln)Brody myopathy [RCV000688052]|Inborn genetic diseases [RCV003258921]|not provided [RCV001766470]uncertain significance162888463228884632Human2name
14713007CV644547single nucleotide variantNM_004320.6(ATP2A1):c.328C>T (p.Arg110Trp)Brody myopathy [RCV000792109]|Inborn genetic diseases [RCV002535861]uncertain significance162888245428882454Human2name
14717223CV644548single nucleotide variantNM_004320.6(ATP2A1):c.479C>T (p.Pro160Leu)Brody myopathy [RCV000806978]uncertain significance162888459028884590Human1name
14701167CV644549single nucleotide variantNM_004320.6(ATP2A1):c.629C>T (p.Ser210Leu)Brody myopathy [RCV000814449]uncertain significance162888727328887273Human1name
14715783CV644550single nucleotide variantNM_004320.6(ATP2A1):c.868C>T (p.Arg290Cys)Brody myopathy [RCV000801409]uncertain significance162888766228887662Human1name
14716909CV644551single nucleotide variantNM_004320.6(ATP2A1):c.869G>A (p.Arg290His)Brody myopathy [RCV000805823]uncertain significance162888766328887663Human1name
14717751CV644552single nucleotide variantNM_004320.6(ATP2A1):c.971G>A (p.Arg324His)Brody myopathy [RCV000808813]|not provided [RCV001289249]|not specified [RCV002265888]uncertain significance162888882928888829Human1name
14714587CV644553single nucleotide variantNM_004320.6(ATP2A1):c.974G>A (p.Arg325Gln)Brody myopathy [RCV000797423]uncertain significance162888883228888832Human1name
14715672CV652559indelNM_004320.6(ATP2A1):c.1764_1764+2delinsTGGBrody myopathy [RCV000801197]likely pathogenic162889845128898453Humanname
21075376CV797301single nucleotide variantNM_004320.6(ATP2A1):c.427C>T (p.Arg143Trp)not provided [RCV000996248]uncertain significance162888255328882553Humanname
26886747CV843705single nucleotide variantNM_004320.6(ATP2A1):c.310G>A (p.Val104Met)Brody myopathy [RCV001044422]uncertain significance162888100528881005Human1name
26890622CV843706single nucleotide variantNM_004320.6(ATP2A1):c.400C>T (p.Arg134Cys)Brody myopathy [RCV001046100]|Inborn genetic diseases [RCV003363068]uncertain significance162888252628882526Human2name
26920040CV843707single nucleotide variantNM_004320.6(ATP2A1):c.490C>T (p.Arg164Ter)Brody myopathy [RCV001059580]pathogenic162888460128884601Human1name
26904160CV843708single nucleotide variantNM_004320.6(ATP2A1):c.938C>T (p.Ala313Val)Brody myopathy [RCV001036404]uncertain significance162888879628888796Human1name
26903187CV858414insertionNM_004320.6(ATP2A1):c.902_903insSVAelementBrody myopathy [RCV001089780]pathogenic162888769628887697Human1name
28886426CV875075single nucleotide variantNM_004320.6(ATP2A1):c.472A>G (p.Lys158Glu)Brody myopathy [RCV001119339]|Inborn genetic diseases [RCV002558180]|not provided [RCV001289248]uncertain significance162888458328884583Human2name
28886429CV875076single nucleotide variantNM_004320.6(ATP2A1):c.515C>T (p.Thr172Met)Brody myopathy [RCV001119340]uncertain significance162888462628884626Human1name
38493283CV927761single nucleotide variantNM_004320.6(ATP2A1):c.719C>T (p.Ala240Val)Brody myopathy [RCV001224168]uncertain significance162888751328887513Human1name
38483124CV937401single nucleotide variantNM_004320.6(ATP2A1):c.448A>G (p.Ile150Val)Brody myopathy [RCV001207527]uncertain significance162888257428882574Human1name
38465316CV949351single nucleotide variantNM_004320.6(ATP2A1):c.580G>T (p.Val194Phe)Brody myopathy [RCV001230125]uncertain significance162888722428887224Human1name
126725239CV996848single nucleotide variantNM_004320.6(ATP2A1):c.844C>T (p.Pro282Ser)Brody myopathy [RCV001302505]uncertain significance162888763828887638Human1name
126765802CV1012077single nucleotide variantNM_004320.6(ATP2A1):c.1231G>C (p.Val411Leu)Brody myopathy [RCV001320188]uncertain significance162889455128894551Human1name
126768360CV1012078single nucleotide variantNM_004320.6(ATP2A1):c.1444G>A (p.Glu482Lys)Brody myopathy [RCV001321319]uncertain significance162889802428898024Human1name
126739728CV1012079single nucleotide variantNM_004320.6(ATP2A1):c.1571G>A (p.Arg524His)Brody myopathy [RCV001325095]|not provided [RCV004692506]uncertain significance162889825828898258Human1name
126749562CV1012080single nucleotide variantNM_004320.6(ATP2A1):c.1603G>A (p.Val535Met)Brody myopathy [RCV001315743]uncertain significance162889829028898290Human1name
126761070CV1012081single nucleotide variantNM_004320.6(ATP2A1):c.1640C>T (p.Ala547Val)Brody myopathy [RCV001318528]uncertain significance162889832728898327Human1name
126746783CV1012082single nucleotide variantNM_004320.6(ATP2A1):c.1714A>C (p.Lys572Gln)Brody myopathy [RCV001315246]uncertain significance162889840128898401Human1name
126766562CV1012083single nucleotide variantNM_004320.6(ATP2A1):c.1808C>T (p.Pro603Leu)Brody myopathy [RCV001320500]uncertain significance162890062428900624Human1name
126756006CV1012084single nucleotide variantNM_004320.6(ATP2A1):c.2060T>C (p.Ile687Thr)Brody myopathy [RCV001317078]uncertain significance162890087628900876Human1name
126750751CV1012085single nucleotide variantNM_004320.6(ATP2A1):c.2485A>G (p.Ile829Val)Brody myopathy [RCV001326784]uncertain significance162890234728902347Human1name
126911286CV1049559single nucleotide variantNM_004320.6(ATP2A1):c.1091G>C (p.Cys364Ser)Brody myopathy [RCV001369141]uncertain significance162888894928888949Human1name
126916536CV1049561single nucleotide variantNM_004320.6(ATP2A1):c.1606C>T (p.Pro536Ser)Brody myopathy [RCV001360635]uncertain significance162889829328898293Human1name
126915594CV1049562single nucleotide variantNM_004320.6(ATP2A1):c.1978G>A (p.Asp660Asn)Brody myopathy [RCV001371007]uncertain significance162890079428900794Human1name
126922199CV1049563single nucleotide variantNM_004320.6(ATP2A1):c.2029G>T (p.Ala677Ser)Brody myopathy [RCV001364387]uncertain significance162890084528900845Human1name
126918327CV1049564single nucleotide variantNM_004320.6(ATP2A1):c.2056A>C (p.Lys686Gln)Brody myopathy [RCV001361662]uncertain significance162890087228900872Human1name
126914594CV1049565single nucleotide variantNM_004320.6(ATP2A1):c.2584G>A (p.Gly862Arg)Brody myopathy [RCV001359595]uncertain significance162890263928902639Human1name
126917748CV1049566single nucleotide variantNM_004320.6(ATP2A1):c.2879G>A (p.Arg960Gln)Brody myopathy [RCV001372252]|Inborn genetic diseases [RCV004037526]likely benign|uncertain significance162890333928903339Human2name
150422909CV1181363single nucleotide variantNM_004320.6(ATP2A1):c.1913G>A (p.Arg638Gln)Brody myopathy [RCV001859374]|Inborn genetic diseases [RCV002568988]|not provided [RCV001553292]uncertain significance162890072928900729Human2name
150416084CV1198760single nucleotide variantNM_004320.6(ATP2A1):c.2836C>G (p.Leu946Val)Brody myopathy [RCV002569080]|not provided [RCV001575680]uncertain significance162890312128903121Human1name
150408148CV1200048single nucleotide variantNM_004320.6(ATP2A1):c.1324G>A (p.Glu442Lys)not provided [RCV001580046]uncertain significance162889485828894858Humanname
150551314CV1292639single nucleotide variantNM_004320.6(ATP2A1):c.2515G>A (p.Ala839Thr)not provided [RCV001754246]uncertain significance162890237728902377Humanname
150551459CV1292723single nucleotide variantNM_004320.6(ATP2A1):c.2230G>A (p.Val744Ile)Brody myopathy [RCV002032755]|not provided [RCV001754331]uncertain significance162890199228901992Human1name
150529752CV1293160single nucleotide variantNM_004320.6(ATP2A1):c.2518A>G (p.Ile840Val)Brody myopathy [RCV002032760]|not provided [RCV001756378]uncertain significance162890238028902380Human1name
150549794CV1299880single nucleotide variantNM_004320.6(ATP2A1):c.1586G>A (p.Arg529Gln)not provided [RCV001765349]uncertain significance162889827328898273Humanname
150555812CV1305296single nucleotide variantNM_004320.6(ATP2A1):c.1156G>A (p.Gly386Ser)not provided [RCV001773229]uncertain significance162889421528894215Humanname
150547079CV1314042single nucleotide variantNM_004320.6(ATP2A1):c.1216C>T (p.Gln406Ter)Brody myopathy [RCV001785135]pathogenic|likely pathogenic162889453628894536Human1name
150547154CV1314080single nucleotide variantNM_004320.6(ATP2A1):c.2574C>G (p.Tyr858Ter)Brody myopathy [RCV001785173]pathogenic162890262928902629Human1name
150536724CV1314237single nucleotide variantNM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter)Brody myopathy [RCV001780662]pathogenic|likely pathogenic162890262928902629Human1name
151233396CV1317808single nucleotide variantNM_004320.6(ATP2A1):c.2644C>T (p.His882Tyr)Brody myopathy [RCV002541264]|not provided [RCV001787574]uncertain significance162890281128902811Human1name
151855656CV1344631single nucleotide variantNM_004320.6(ATP2A1):c.2262C>G (p.Tyr754Ter)Brody myopathy [RCV001923360]pathogenic162890202428902024Human1name
151786708CV1345053single nucleotide variantNM_004320.6(ATP2A1):c.1916T>C (p.Ile639Thr)Brody myopathy [RCV001989653]|not provided [RCV003481242]uncertain significance162890073228900732Human1name
151840400CV1345876single nucleotide variantNM_004320.6(ATP2A1):c.1844G>A (p.Arg615His)Brody myopathy [RCV001902768]uncertain significance162890066028900660Human1name
151722672CV1346531single nucleotide variantNM_004320.6(ATP2A1):c.2040G>T (p.Glu680Asp)Brody myopathy [RCV001966200]uncertain significance162890085628900856Human1name
151767067CV1348677single nucleotide variantNM_004320.6(ATP2A1):c.2762C>T (p.Ser921Phe)Brody myopathy [RCV001895968]uncertain significance162890304728903047Human1name
151844899CV1349655single nucleotide variantNM_004320.6(ATP2A1):c.1333C>A (p.Leu445Ile)Brody myopathy [RCV001936578]uncertain significance162889486728894867Human1name
151716308CV1349777single nucleotide variantNM_004320.6(ATP2A1):c.2777C>G (p.Pro926Arg)Brody myopathy [RCV001965279]|Inborn genetic diseases [RCV002562188]|not provided [RCV003236910]uncertain significance162890306228903062Human2name
151780578CV1356011single nucleotide variantNM_004320.6(ATP2A1):c.1843C>G (p.Arg615Gly)Brody myopathy [RCV002046126]uncertain significance162890065928900659Human1name
151764648CV1362332single nucleotide variantNM_004320.6(ATP2A1):c.1513C>T (p.Arg505Trp)Brody myopathy [RCV001970575]uncertain significance162889809328898093Human1name
151753116CV1363754single nucleotide variantNM_004320.6(ATP2A1):c.1966C>T (p.Arg656Ter)Brody myopathy [RCV001872466]pathogenic162890078228900782Human1name
151819543CV1378238single nucleotide variantNM_004320.6(ATP2A1):c.1678C>T (p.Arg560Cys)Brody myopathy [RCV002029751]uncertain significance162889836528898365Human1name
151878371CV1383458single nucleotide variantNM_004320.6(ATP2A1):c.2971T>C (p.Tyr991His)Brody myopathy [RCV001907352]uncertain significance162890343128903431Human1name
151711190CV1394980single nucleotide variantNM_004320.6(ATP2A1):c.2083G>A (p.Asp695Asn)Brody myopathy [RCV001964331]|Inborn genetic diseases [RCV003289322]uncertain significance162890089928900899Human2name
151839993CV1415311single nucleotide variantNM_004320.6(ATP2A1):c.1510T>G (p.Ser504Ala)Brody myopathy [RCV001921420]|not provided [RCV003481193]uncertain significance162889809028898090Human1name
151796391CV1415806single nucleotide variantNM_004320.6(ATP2A1):c.2290C>T (p.Leu764Phe)Brody myopathy [RCV001898656]uncertain significance162890205228902052Human1name
151806073CV1430004single nucleotide variantNM_004320.6(ATP2A1):c.1531A>C (p.Lys511Gln)Brody myopathy [RCV001974347]uncertain significance162889811128898111Human1name
151789413CV1434478single nucleotide variantNM_004320.6(ATP2A1):c.1961C>T (p.Thr654Met)Brody myopathy [RCV001876363]uncertain significance162890077728900777Human1name
151827610CV1435426single nucleotide variantNM_004320.6(ATP2A1):c.1600C>T (p.Arg534Trp)Brody myopathy [RCV001955359]uncertain significance162889828728898287Human1name
151871810CV1436650single nucleotide variantNM_004320.6(ATP2A1):c.2398G>C (p.Asp800His)Brody myopathy [RCV001998444]uncertain significance162890226028902260Human1name
151723976CV1436971single nucleotide variantNM_004320.6(ATP2A1):c.2305G>A (p.Val769Met)Brody myopathy [RCV002004039]uncertain significance162890206728902067Human1name
151875602CV1466837single nucleotide variantNM_004320.6(ATP2A1):c.1039G>A (p.Val347Ile)Brody myopathy [RCV001885819]uncertain significance162888889728888897Human1name
151778686CV1468742single nucleotide variantNM_004320.6(ATP2A1):c.2980G>A (p.Gly994Arg)Brody myopathy [RCV002045938]uncertain significance162890344028903440Human1name
151837300CV1469822single nucleotide variantNM_004320.6(ATP2A1):c.2524G>A (p.Gly842Ser)Brody myopathy [RCV001880936]uncertain significance162890238628902386Human1name
151892271CV1480761single nucleotide variantNM_004320.6(ATP2A1):c.1952G>A (p.Arg651His)Brody myopathy [RCV001943938]|Inborn genetic diseases [RCV005288636]uncertain significance162890076828900768Human2name
151745260CV1485038single nucleotide variantNM_004320.6(ATP2A1):c.1545G>T (p.Lys515Asn)Brody myopathy [RCV002006238]uncertain significance162889812528898125Human1name
151734010CV1494320single nucleotide variantNM_004320.6(ATP2A1):c.1253C>T (p.Ala418Val)Brody myopathy [RCV001946341]uncertain significance162889457328894573Human1name
151881137CV1504104single nucleotide variantNM_004320.6(ATP2A1):c.2770C>T (p.Arg924Trp)Brody myopathy [RCV002020181]uncertain significance162890305528903055Human1name
151719329CV1505844single nucleotide variantNM_004320.6(ATP2A1):c.2293A>G (p.Ile765Val)Brody myopathy [RCV002039836]uncertain significance162890205528902055Human1name
151849104CV1510749single nucleotide variantNM_004320.6(ATP2A1):c.2683G>A (p.Glu895Lys)Brody myopathy [RCV001957736]uncertain significance162890285028902850Human1name
151790252CV1515334single nucleotide variantNM_004320.6(ATP2A1):c.2153T>C (p.Ile718Thr)Brody myopathy [RCV002027153]uncertain significance162890191528901915Human1name
151812257CV1515910single nucleotide variantNM_004320.6(ATP2A1):c.1478C>A (p.Ser493Tyr)Brody myopathy [RCV002012554]uncertain significance162889805828898058Human1name
155642450CV1707401single nucleotide variantNM_004320.6(ATP2A1):c.2000G>C (p.Arg667Pro)Brody myopathy [RCV002288331]uncertain significance162890081628900816Human1name
155749359CV1775627single nucleotide variantNM_004320.6(ATP2A1):c.2627G>A (p.Cys876Tyr)Brody myopathy [RCV002304566]uncertain significance162890279428902794Human1name
155803839CV1858405single nucleotide variantNM_004320.6(ATP2A1):c.1790T>C (p.Val597Ala)Brody myopathy [RCV003103146]|not provided [RCV002462715]uncertain significance162890060628900606Human1name
155932726CV1866821single nucleotide variantNM_004320.6(ATP2A1):c.2032C>T (p.Arg678Cys)Brody myopathy [RCV002571552]|not provided [RCV002508373]uncertain significance162890084828900848Human1name
155948594CV1869194single nucleotide variantNM_004320.6(ATP2A1):c.2726T>C (p.Met909Thr)Brody myopathy [RCV003074009]uncertain significance162890289328902893Human1name
156006608CV1870436single nucleotide variantNM_004320.6(ATP2A1):c.1849G>A (p.Ala617Thr)Brody myopathy [RCV003076854]uncertain significance162890066528900665Human1name
156270676CV1870710single nucleotide variantNM_004320.6(ATP2A1):c.2906T>C (p.Met969Thr)Brody myopathy [RCV003060704]uncertain significance162890336628903366Human1name
155958823CV1873579single nucleotide variantNM_004320.6(ATP2A1):c.1765A>G (p.Thr589Ala)Brody myopathy [RCV003074577]uncertain significance162890058128900581Human1name
156318562CV1876125single nucleotide variantNM_004320.6(ATP2A1):c.2033G>A (p.Arg678His)Brody myopathy [RCV003062910]uncertain significance162890084928900849Human1name
156203055CV1877810single nucleotide variantNM_004320.6(ATP2A1):c.2506C>T (p.Arg836Cys)Brody myopathy [RCV003058229]uncertain significance162890236828902368Human1name
156078574CV1886649single nucleotide variantNM_004320.6(ATP2A1):c.1954G>A (p.Ala652Thr)Brody myopathy [RCV003079787]uncertain significance162890077028900770Human1name
156044442CV1887362single nucleotide variantNM_004320.6(ATP2A1):c.2113G>A (p.Val705Ile)Brody myopathy [RCV003078646]uncertain significance162890187528901875Human1name
156321048CV1897841single nucleotide variantNM_004320.6(ATP2A1):c.2507G>A (p.Arg836His)Brody myopathy [RCV002579242]uncertain significance162890236928902369Human1name
156377204CV1913879single nucleotide variantNM_004320.6(ATP2A1):c.1643T>C (p.Val548Ala)Brody myopathy [RCV002603680]uncertain significance162889833028898330Human1name
156417995CV1914283single nucleotide variantNM_004320.6(ATP2A1):c.2464C>T (p.Arg822Trp)Brody myopathy [RCV002611166]uncertain significance162890232628902326Human1name
156414224CV1915839single nucleotide variantNM_004320.6(ATP2A1):c.2176G>A (p.Val726Met)Brody myopathy [RCV002588483]uncertain significance162890193828901938Human1name
156284003CV1929628single nucleotide variantNM_004320.6(ATP2A1):c.1106T>C (p.Ile369Thr)Brody myopathy [RCV002628536]uncertain significance162889416528894165Human1name
156409894CV1962005single nucleotide variantNM_004320.6(ATP2A1):c.1001G>A (p.Arg334Lys)Brody myopathy [RCV002586973]uncertain significance162888885928888859Human1name
156406743CV1963750single nucleotide variantNM_004320.6(ATP2A1):c.1315G>A (p.Glu439Lys)Brody myopathy [RCV002586003]uncertain significance162889484928894849Human1name
156348059CV1970661single nucleotide variantNM_004320.6(ATP2A1):c.2512A>G (p.Met838Val)Brody myopathy [RCV002601628]uncertain significance162890237428902374Human1name
156051250CV1974379single nucleotide variantNM_004320.6(ATP2A1):c.2164T>C (p.Ser722Pro)Brody myopathy [RCV002590668]uncertain significance162890192628901926Human1name
156388433CV1983208single nucleotide variantNM_004320.6(ATP2A1):c.2692A>T (p.Thr898Ser)Brody myopathy [RCV002634780]uncertain significance162890285928902859Human1name
156201917CV2004202single nucleotide variantNM_004320.6(ATP2A1):c.1912C>T (p.Arg638Ter)Brody myopathy [RCV002666524]pathogenic162890072828900728Human1name
156235940CV2016218single nucleotide variantNM_004320.6(ATP2A1):c.1112A>C (p.Lys371Thr)Brody myopathy [RCV002701545]uncertain significance162889417128894171Human1name
156208967CV2018779single nucleotide variantNM_004320.6(ATP2A1):c.2558C>T (p.Ala853Val)Brody myopathy [RCV002700553]uncertain significance162890261328902613Human1name
156120438CV2039459single nucleotide variantNM_004320.6(ATP2A1):c.1688C>T (p.Ala563Val)Brody myopathy [RCV002800203]uncertain significance162889837528898375Human1name
156263992CV2059522single nucleotide variantNM_004320.6(ATP2A1):c.2852A>G (p.Asp951Gly)Brody myopathy [RCV002806425]uncertain significance162890313728903137Human1name
156193322CV2066473single nucleotide variantNM_004320.6(ATP2A1):c.2450T>G (p.Met817Arg)Brody myopathy [RCV002828682]|not provided [RCV003481336]uncertain significance162890231228902312Human1name
156143282CV2106192single nucleotide variantNM_004320.6(ATP2A1):c.2398G>A (p.Asp800Asn)Brody myopathy [RCV002928635]uncertain significance162890226028902260Human1name
155937751CV2110442single nucleotide variantNM_004320.6(ATP2A1):c.1637T>C (p.Met546Thr)Brody myopathy [RCV002904257]uncertain significance162889832428898324Human1name
156015196CV2114336single nucleotide variantNM_004320.6(ATP2A1):c.1613C>T (p.Thr538Met)Brody myopathy [RCV002909327]uncertain significance162889830028898300Human1name
156276974CV2137299single nucleotide variantNM_004320.6(ATP2A1):c.1699C>G (p.Arg567Gly)Brody myopathy [RCV003009463]uncertain significance162889838628898386Human1name
155945235CV2139391single nucleotide variantNM_004320.6(ATP2A1):c.1168G>A (p.Ala390Thr)Brody myopathy [RCV002994303]|Inborn genetic diseases [RCV002979722]uncertain significance162889422728894227Human2name
156244991CV2147742single nucleotide variantNM_004320.6(ATP2A1):c.1974C>A (p.Phe658Leu)Brody myopathy [RCV003026142]uncertain significance162890079028900790Human1name
156248431CV2168862single nucleotide variantNM_004320.6(ATP2A1):c.2089A>G (p.Ile697Val)Brody myopathy [RCV003026256]uncertain significance162890090528900905Human1name
156342960CV2176042single nucleotide variantNM_004320.6(ATP2A1):c.1251T>G (p.Cys417Trp)Brody myopathy [RCV003030386]uncertain significance162889457128894571Human1name
156036392CV2178557duplicationNM_004320.6(ATP2A1):c.1575dup (p.Asn526Ter)Brody myopathy [RCV003036392]pathogenic162889826128898262Human1name
156182809CV2182448single nucleotide variantNM_004320.6(ATP2A1):c.1938G>C (p.Glu646Asp)Brody myopathy [RCV003057582]uncertain significance162890075428900754Human1name
156182835CV2182449single nucleotide variantNM_004320.6(ATP2A1):c.2021G>A (p.Cys674Tyr)Brody myopathy [RCV003057583]uncertain significance162890083728900837Human1name
156289641CV2324829single nucleotide variantNM_004320.6(ATP2A1):c.2105G>A (p.Gly702Asp)Inborn genetic diseases [RCV002935508]uncertain significance162890186728901867Human1name
243064790CV2411960single nucleotide variantNM_004320.6(ATP2A1):c.2323A>C (p.Ile775Leu)Brody myopathy [RCV003143618]uncertain significance162890218528902185Human1name
243064792CV2411962single nucleotide variantNM_004320.6(ATP2A1):c.2012G>A (p.Arg671Gln)Brody myopathy [RCV003143620]uncertain significance162890082828900828Human1name
243064793CV2411963single nucleotide variantNM_004320.6(ATP2A1):c.2480C>T (p.Pro827Leu)Brody myopathy [RCV003143621]uncertain significance162890234228902342Human1name
243064796CV2411966single nucleotide variantNM_004320.6(ATP2A1):c.1526G>A (p.Gly509Asp)Brody myopathy [RCV003143624]uncertain significance162889810628898106Human1name
243064797CV2411967single nucleotide variantNM_004320.6(ATP2A1):c.1676T>C (p.Leu559Pro)Brody myopathy [RCV003143625]uncertain significance162889836328898363Human1name
243064803CV2411973single nucleotide variantNM_004320.6(ATP2A1):c.1778T>A (p.Phe593Tyr)Brody myopathy [RCV003143631]uncertain significance162890059428900594Human1name
243064805CV2411975single nucleotide variantNM_004320.6(ATP2A1):c.1957T>C (p.Tyr653His)Brody myopathy [RCV003143633]uncertain significance162890077328900773Human1name
243064806CV2411976single nucleotide variantNM_004320.6(ATP2A1):c.1051G>A (p.Asp351Asn)Brody myopathy [RCV003143634]uncertain significance162888890928888909Human1name
243064807CV2411977single nucleotide variantNM_004320.6(ATP2A1):c.1667G>A (p.Arg556Gln)Brody myopathy [RCV003143635]uncertain significance162889835428898354Human1name
243064809CV2411979single nucleotide variantNM_004320.6(ATP2A1):c.2431C>A (p.Pro811Thr)Brody myopathy [RCV003143637]|Inborn genetic diseases [RCV004246102]uncertain significance162890229328902293Human2name
243064810CV2411980single nucleotide variantNM_004320.6(ATP2A1):c.1430A>G (p.Gln477Arg)Brody myopathy [RCV003143638]uncertain significance162889801028898010Human1name
243064813CV2411983single nucleotide variantNM_004320.6(ATP2A1):c.1636A>G (p.Met546Val)Brody myopathy [RCV003143641]uncertain significance162889832328898323Human1name
243064814CV2411984single nucleotide variantNM_004320.6(ATP2A1):c.2122G>A (p.Ala708Thr)Brody myopathy [RCV003143642]uncertain significance162890188428901884Human1name
243064827CV2411985single nucleotide variantNM_004320.6(ATP2A1):c.1813A>G (p.Lys605Glu)Brody myopathy [RCV003143643]uncertain significance162890062928900629Human1name
243064828CV2411986single nucleotide variantNM_004320.6(ATP2A1):c.1936G>C (p.Glu646Gln)Brody myopathy [RCV003143644]uncertain significance162890075228900752Human1name
329376466CV2472050single nucleotide variantNM_004320.6(ATP2A1):c.2303A>G (p.Asn768Ser)Inborn genetic diseases [RCV003211520]uncertain significance162890206528902065Human1name
401771988CV2723013single nucleotide variantNM_004320.6(ATP2A1):c.1859G>A (p.Arg620Gln)Inborn genetic diseases [RCV003304528]uncertain significance162890067528900675Human1name
401770603CV2726201single nucleotide variantNM_004320.6(ATP2A1):c.1789G>C (p.Val597Leu)Inborn genetic diseases [RCV003304087]uncertain significance162890060528900605Human1name
401861281CV2779585single nucleotide variantNM_004320.6(ATP2A1):c.2117A>G (p.Asn706Ser)Inborn genetic diseases [RCV003357747]uncertain significance162890187928901879Human1name
401911566CV2807770single nucleotide variantNM_004320.6(ATP2A1):c.2203C>A (p.Leu735Met)not provided [RCV003426645]uncertain significance162890196528901965Humanname
404977226CV2849680single nucleotide variantNM_004320.6(ATP2A1):c.2248G>A (p.Gly750Ser)Brody myopathy [RCV003486019]uncertain significance162890201028902010Human1name
405039620CV2858279single nucleotide variantNM_004320.6(ATP2A1):c.2702T>C (p.Leu901Pro)Brody myopathy [RCV003517878]uncertain significance162890286928902869Human1name
405044460CV2869539single nucleotide variantNM_004320.6(ATP2A1):c.2401G>A (p.Gly801Arg)Brody myopathy [RCV003518308]uncertain significance162890226328902263Human1name
405047852CV2893476single nucleotide variantNM_004320.6(ATP2A1):c.2075A>G (p.Gln692Arg)Brody myopathy [RCV003518609]uncertain significance162890089128900891Human1name
405058020CV3000391single nucleotide variantNM_004320.6(ATP2A1):c.1183G>T (p.Val395Phe)Brody myopathy [RCV003631975]uncertain significance162889424228894242Human1name
405091451CV3167930single nucleotide variantNM_004320.6(ATP2A1):c.1465C>T (p.Arg489Ter)Brody myopathy [RCV003852320]pathogenic162889804528898045Human1name
11659205CV324946single nucleotide variantNM_004320.6(ATP2A1):c.2285G>A (p.Arg762His)Brody myopathy [RCV000355953]uncertain significance162890204728902047Human1name
8566393CV32842single nucleotide variantNM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter)Brody myopathy [RCV000019381]pathogenic162890084128900841Human1name
8566396CV32845single nucleotide variantNM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu)Brody myopathy [RCV000019384]pathogenic162890222828902228Human1name
405665193CV3301284single nucleotide variantNM_004320.6(ATP2A1):c.1088T>C (p.Val363Ala)Inborn genetic diseases [RCV004418361]uncertain significance162888894628888946Human1name
405665200CV3301285single nucleotide variantNM_004320.6(ATP2A1):c.1445A>G (p.Glu482Gly)Inborn genetic diseases [RCV004418362]uncertain significance162889802528898025Human1name
405665205CV3301286single nucleotide variantNM_004320.6(ATP2A1):c.1869G>T (p.Met623Ile)Inborn genetic diseases [RCV004418363]uncertain significance162890068528900685Human1name
405665209CV3301287single nucleotide variantNM_004320.6(ATP2A1):c.2368G>A (p.Val790Met)Inborn genetic diseases [RCV004418364]uncertain significance162890223028902230Human1name
405665213CV3301288single nucleotide variantNM_004320.6(ATP2A1):c.2849T>C (p.Val950Ala)Inborn genetic diseases [RCV004418365]uncertain significance162890313428903134Human1name
11621531CV334615single nucleotide variantNM_004320.6(ATP2A1):c.1780G>A (p.Val594Met)Brody myopathy [RCV000349891]|Inborn genetic diseases [RCV004965405]|not provided [RCV001764287]uncertain significance162890059628900596Human2name
11651791CV334618single nucleotide variantNM_004320.6(ATP2A1):c.2091C>G (p.Ile697Met)Brody myopathy [RCV000301104]uncertain significance162890090728900907Human1name
407426906CV3411706single nucleotide variantNM_004320.6(ATP2A1):c.2149G>T (p.Gly717Cys)not provided [RCV004590884]uncertain significance162890191128901911Humanname
11620932CV342634single nucleotide variantNM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln)Brody myopathy [RCV000342890]|See cases [RCV002252094]|not provided [RCV000766943]|not specified [RCV000424855]uncertain significance162889452828894528Human1name
11613313CV342645single nucleotide variantNM_004320.6(ATP2A1):c.2560T>C (p.Trp854Arg)Brody myopathy [RCV000267137]|not provided [RCV002466488]uncertain significance162890261528902615Human1name
407522049CV3492636single nucleotide variantNM_004320.6(ATP2A1):c.1699C>T (p.Arg567Trp)Inborn genetic diseases [RCV004677531]uncertain significance162889838628898386Human1name
407522057CV3492640single nucleotide variantNM_004320.6(ATP2A1):c.1625A>G (p.Lys542Arg)Inborn genetic diseases [RCV004677534]uncertain significance162889831228898312Human1name
407522080CV3492649single nucleotide variantNM_004320.6(ATP2A1):c.1942G>A (p.Val648Met)Inborn genetic diseases [RCV004677543]uncertain significance162890075828900758Human1name
408374428CV3516117single nucleotide variantNM_004320.6(ATP2A1):c.2465G>A (p.Arg822Gln)ATP2A1-related disorder [RCV004746731]uncertain significance162890232728902327Humanname , trait , alternate_id
12740692CV360382single nucleotide variantNM_004320.6(ATP2A1):c.2588C>G (p.Pro863Arg)not specified [RCV000412833]uncertain significance162890264328902643Humanname
597641929CV3613110single nucleotide variantNM_004320.6(ATP2A1):c.1426C>T (p.Arg476Cys)Inborn genetic diseases [RCV004971825]uncertain significance162889800628898006Human1name
597628113CV3613193single nucleotide variantNM_004320.6(ATP2A1):c.1356G>T (p.Met452Ile)Inborn genetic diseases [RCV004966733]uncertain significance162889489028894890Human1name
12837597CV374323single nucleotide variantNM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met)Brody myopathy [RCV000690255]|not provided [RCV000425443]uncertain significance162889490428894904Human1name
12833551CV374324single nucleotide variantNM_004320.6(ATP2A1):c.1540G>C (p.Val514Leu)Brody myopathy [RCV000531927]|Inborn genetic diseases [RCV002522514]|not provided [RCV000418726]uncertain significance162889812028898120Human2name
12838557CV374326single nucleotide variantNM_004320.6(ATP2A1):c.1706C>T (p.Thr569Ile)Brody myopathy [RCV001368165]|not provided [RCV000427187]uncertain significance162889839328898393Human1name
12838530CV374327single nucleotide variantNM_004320.6(ATP2A1):c.1948G>A (p.Asp650Asn)Brody myopathy [RCV000527003]|not provided [RCV001721326]benign|likely benign162890076428900764Human1name
12845683CV374336single nucleotide variantNM_004320.6(ATP2A1):c.2776C>T (p.Pro926Ser)Brody myopathy [RCV000697309]|Inborn genetic diseases [RCV002519546]|not provided [RCV000440267]uncertain significance162890306128903061Human2name
12841182CV375065single nucleotide variantNM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr)ATP2A1-related disorder [RCV004745378]|Brody myopathy [RCV000819205]|Inborn genetic diseases [RCV003343822]|See cases [RCV002252127]|not provided [RCV000766944]|not specified [RCV000432113]likely benign|uncertain significance162890232028902320Human2name , trait , alternate_id
12835977CV375362single nucleotide variantNM_004320.6(ATP2A1):c.1815G>C (p.Lys605Asn)not provided [RCV000422607]uncertain significance162890063128900631Humanname
597889151CV3839578single nucleotide variantNM_004320.6(ATP2A1):c.1523T>A (p.Val508Glu)Brody myopathy [RCV005179470]uncertain significance162889810328898103Human1name
598164463CV3920241single nucleotide variantNM_004320.6(ATP2A1):c.2665G>A (p.Glu889Lys)Inborn genetic diseases [RCV005283294]uncertain significance162890283228902832Human1name
598224308CV3920280single nucleotide variantNM_004320.6(ATP2A1):c.1823C>T (p.Thr608Met)Inborn genetic diseases [RCV005294084]likely benign162890063928900639Human1name
616933986CV4011962single nucleotide variantNM_004320.6(ATP2A1):c.1585C>T (p.Arg529Ter)Brody myopathy [RCV005408511]pathogenic162889827228898272Human1name
12898663CV409605single nucleotide variantNM_004320.6(ATP2A1):c.1561G>A (p.Val521Ile)Brody myopathy [RCV000639610]|Inborn genetic diseases [RCV004023202]|not provided [RCV000478414]uncertain significance162889824828898248Human2name
12899463CV409606single nucleotide variantNM_004320.6(ATP2A1):c.1756G>A (p.Glu586Lys)not provided [RCV000480260]uncertain significance162889844328898443Humanname
12901792CV409607single nucleotide variantNM_004320.6(ATP2A1):c.2435C>T (p.Pro812Leu)not provided [RCV000485562]uncertain significance162890229728902297Humanname
12893653CV409608single nucleotide variantNM_004320.6(ATP2A1):c.2758C>T (p.Gln920Ter)Brody myopathy [RCV000685608]|not provided [RCV000479735]pathogenic|likely pathogenic162890304328903043Human1name
12906804CV415488single nucleotide variantNM_004320.6(ATP2A1):c.1418C>T (p.Ser473Leu)Brody myopathy [RCV001047149]|Inborn genetic diseases [RCV003168993]|not provided [RCV000489671]uncertain significance162889495228894952Human2name
13212066CV426167single nucleotide variantNM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp)ATP2A1-related disorder [RCV003962364]|Brody myopathy [RCV001084219]|not provided [RCV000498288]likely benign|conflicting interpretations of pathogenicity|uncertain significance162889452728894527Human1name , trait , alternate_id
13212044CV426169single nucleotide variantNM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr)Brody myopathy [RCV001084693]|not provided [RCV000710660]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance162890259128902591Human1name
13478529CV441894single nucleotide variantNM_004320.6(ATP2A1):c.1466G>A (p.Arg489Gln)Brody myopathy [RCV001851424]|not provided [RCV004794401]|not specified [RCV000516708]uncertain significance162889804628898046Human1name
13484602CV441896single nucleotide variantNM_004320.6(ATP2A1):c.1858C>T (p.Arg620Trp)not specified [RCV000518511]uncertain significance162890067428900674Humanname
13470249CV441897single nucleotide variantNM_004320.6(ATP2A1):c.2011C>T (p.Arg671Ter)Brody myopathy [RCV002527457]|not provided [RCV000517128]pathogenic|likely pathogenic162890082728900827Human1name
13484856CV441898single nucleotide variantNM_004320.6(ATP2A1):c.2752G>A (p.Glu918Lys)Brody myopathy [RCV000822415]|not specified [RCV000518580]uncertain significance162890303728903037Human1name
13474092CV465612single nucleotide variantNM_004320.6(ATP2A1):c.1852G>A (p.Gly618Arg)Brody myopathy [RCV000542646]uncertain significance162890066828900668Human1name
13475568CV465628single nucleotide variantNM_004320.6(ATP2A1):c.1976A>G (p.Asp659Gly)Brody myopathy [RCV000551946]uncertain significance162890079228900792Human1name
13474225CV465630single nucleotide variantNM_004320.6(ATP2A1):c.2750C>G (p.Ser917Cys)Brody myopathy [RCV000543435]uncertain significance162890303528903035Human1name
13475962CV466325single nucleotide variantNM_004320.6(ATP2A1):c.1367A>G (p.Asn456Ser)Brody myopathy [RCV000554411]|not provided [RCV001662549]uncertain significance162889490128894901Human1name
13472915CV466332single nucleotide variantNM_004320.6(ATP2A1):c.1619C>T (p.Pro540Leu)Brody myopathy [RCV000535094]|not provided [RCV004715282]|not specified [RCV000600170]benign162889830628898306Human1name
13471533CV466343single nucleotide variantNM_004320.6(ATP2A1):c.2077T>G (p.Ser693Ala)Brody myopathy [RCV000525672]uncertain significance162890089328900893Human1name
13473522CV466609single nucleotide variantNM_004320.6(ATP2A1):c.1294G>A (p.Gly432Ser)Brody myopathy [RCV000539079]uncertain significance162889482828894828Human1name
13476482CV466611single nucleotide variantNM_004320.6(ATP2A1):c.1427G>A (p.Arg476His)ATP2A1-related disorder [RCV003962506]|Brody myopathy [RCV000557567]|not provided [RCV004791546]likely benign|conflicting interpretations of pathogenicity|uncertain significance162889800728898007Human1name , trait , alternate_id
13607668CV530217single nucleotide variantNM_004320.6(ATP2A1):c.2000G>A (p.Arg667Gln)Brody myopathy [RCV000639612]|not provided [RCV002473081]uncertain significance162890081628900816Human1name
13607669CV530399single nucleotide variantNM_004320.6(ATP2A1):c.1400G>A (p.Arg467Lys)Brody myopathy [RCV000639613]uncertain significance162889493428894934Human1name
13808665CV568072single nucleotide variantNM_004320.6(ATP2A1):c.1015G>A (p.Val339Ile)Brody myopathy [RCV000701775]uncertain significance162888887328888873Human1name
13815705CV568074single nucleotide variantNM_004320.6(ATP2A1):c.2632G>A (p.Glu878Lys)Brody myopathy [RCV000691809]uncertain significance162890279928902799Human1name
13812142CV568076single nucleotide variantNM_004320.6(ATP2A1):c.2678C>T (p.Ala893Val)Brody myopathy [RCV000703511]uncertain significance162890284528902845Human1name
13821790CV568077single nucleotide variantNM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys)Brody myopathy [RCV000696388]uncertain significance162890340428903404Human1name
13819199CV570229single nucleotide variantNM_004320.6(ATP2A1):c.1491T>G (p.Tyr497Ter)Brody myopathy [RCV000694187]pathogenic162889807128898071Human1name
13808244CV577541single nucleotide variantNM_004320.6(ATP2A1):c.1283A>G (p.Asn428Ser)Brody myopathy [RCV000816964]|not provided [RCV000710657]uncertain significance162889460328894603Human1name
13808251CV577542single nucleotide variantNM_004320.6(ATP2A1):c.2455C>T (p.Arg819Cys)Brody myopathy [RCV003144577]|not provided [RCV000710659]uncertain significance162890231728902317Human1name
14397079CV613031single nucleotide variantNM_004320.6(ATP2A1):c.1789G>A (p.Val597Met)not provided [RCV000762217]uncertain significance162890060528900605Humanname
14718123CV644554single nucleotide variantNM_004320.6(ATP2A1):c.1136T>C (p.Leu379Pro)Brody myopathy [RCV000810361]uncertain significance162889419528894195Human1name
14701299CV644555single nucleotide variantNM_004320.6(ATP2A1):c.1312G>A (p.Gly438Ser)Brody myopathy [RCV000815497]|Inborn genetic diseases [RCV003353053]uncertain significance162889484628894846Human2name
14717514CV644557single nucleotide variantNM_004320.6(ATP2A1):c.1810C>T (p.Arg604Cys)Brody myopathy [RCV000807952]uncertain significance162890062628900626Human1name
14713474CV644558single nucleotide variantNM_004320.6(ATP2A1):c.1909C>T (p.Arg637Trp)Brody myopathy [RCV000793332]uncertain significance162890072528900725Human1name
14715837CV644559single nucleotide variantNM_004320.6(ATP2A1):c.1910G>A (p.Arg637Gln)Brody myopathy [RCV000801735]uncertain significance162890072628900726Human1name
14716007CV644561single nucleotide variantNM_004320.6(ATP2A1):c.1990G>A (p.Ala664Thr)Brody myopathy [RCV000802411]uncertain significance162890080628900806Human1name
14701309CV644562single nucleotide variantNM_004320.6(ATP2A1):c.2014C>T (p.Arg672Cys)Brody myopathy [RCV000815610]|Inborn genetic diseases [RCV004962844]uncertain significance162890083028900830Human2name
14701152CV644563single nucleotide variantNM_004320.6(ATP2A1):c.2182A>G (p.Lys728Glu)Brody myopathy [RCV000814179]uncertain significance162890194428901944Human1name
14717566CV644564single nucleotide variantNM_004320.6(ATP2A1):c.2239G>A (p.Val747Met)Brody myopathy [RCV000808173]uncertain significance162890200128902001Human1name
14718110CV644565single nucleotide variantNM_004320.6(ATP2A1):c.2311G>T (p.Glu771Ter)Brody myopathy [RCV000810209]|not provided [RCV001289247]pathogenic|likely pathogenic162890207328902073Human1name
14715954CV644566single nucleotide variantNM_004320.6(ATP2A1):c.2366C>G (p.Pro789Arg)Brody myopathy [RCV000802040]uncertain significance162890222828902228Human1name
14715030CV644567single nucleotide variantNM_004320.6(ATP2A1):c.2371C>T (p.Gln791Ter)Brody myopathy [RCV000798965]pathogenic162890223328902233Human1name
14702331CV644568single nucleotide variantNM_004320.6(ATP2A1):c.2414C>T (p.Thr805Ile)Brody myopathy [RCV000823484]|Inborn genetic diseases [RCV002535987]uncertain significance162890227628902276Human2name
14701234CV644569single nucleotide variantNM_004320.6(ATP2A1):c.2462C>A (p.Pro821His)Brody myopathy [RCV000814887]uncertain significance162890232428902324Human1name
14702099CV644570single nucleotide variantNM_004320.6(ATP2A1):c.2521G>A (p.Gly841Arg)Brody myopathy [RCV000821683]uncertain significance162890238328902383Human1name
14702077CV644571single nucleotide variantNM_004320.6(ATP2A1):c.2545G>A (p.Val849Met)Brody myopathy [RCV000821338]uncertain significance162890260028902600Human1name
14718466CV644572single nucleotide variantNM_004320.6(ATP2A1):c.2771G>A (p.Arg924Gln)Brody myopathy [RCV000811574]uncertain significance162890305628903056Human1name
14718456CV644573single nucleotide variantNM_004320.6(ATP2A1):c.2958C>G (p.Phe986Leu)Brody myopathy [RCV000811550]uncertain significance162890341828903418Human1name
14715346CV644574single nucleotide variantNM_004320.6(ATP2A1):c.2959G>A (p.Val987Ile)Brody myopathy [RCV000800200]uncertain significance162890341928903419Human1name
15125879CV693838single nucleotide variantNM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met)Brody myopathy [RCV000875025]likely benign|conflicting interpretations of pathogenicity162890058228900582Human1name
15181486CV740094single nucleotide variantNM_004320.6(ATP2A1):c.1411T>G (p.Cys471Gly)Brody myopathy [RCV002065759]likely benign162889494528894945Human1name
26921436CV843709single nucleotide variantNM_004320.6(ATP2A1):c.1025T>C (p.Leu342Pro)Brody myopathy [RCV001060993]|not provided [RCV004697039]uncertain significance162888888328888883Human1name
26892273CV843710single nucleotide variantNM_004320.6(ATP2A1):c.1300T>C (p.Tyr434His)Brody myopathy [RCV001046864]|Inborn genetic diseases [RCV004031457]uncertain significance162889483428894834Human2name
26888579CV843711single nucleotide variantNM_004320.6(ATP2A1):c.1369A>G (p.Thr457Ala)Brody myopathy [RCV001067152]uncertain significance162889490328894903Human1name
26912209CV843712single nucleotide variantNM_004320.6(ATP2A1):c.1442A>T (p.Lys481Met)Brody myopathy [RCV001039083]|Inborn genetic diseases [RCV002553051]|not specified [RCV002265932]uncertain significance162889802228898022Human2name
26914589CV843713single nucleotide variantNM_004320.6(ATP2A1):c.1457A>T (p.Glu486Val)Brody myopathy [RCV001055073]|Inborn genetic diseases [RCV004963056]uncertain significance162889803728898037Human2name
26906262CV843714single nucleotide variantNM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys)Brody myopathy [RCV001037359]|not provided [RCV003482323]uncertain significance162890077728900777Human1name
26900842CV843715single nucleotide variantNM_004320.6(ATP2A1):c.2015G>A (p.Arg672His)Brody myopathy [RCV001049680]uncertain significance162890083128900831Human1name
26891318CV843716single nucleotide variantNM_004320.6(ATP2A1):c.2183A>G (p.Lys728Arg)Brody myopathy [RCV001046390]uncertain significance162890194528901945Human1name
26901199CV843717single nucleotide variantNM_004320.6(ATP2A1):c.2212G>A (p.Asp738Asn)Brody myopathy [RCV001071504]uncertain significance162890197428901974Human1name
26915518CV843718single nucleotide variantNM_004320.6(ATP2A1):c.2311G>A (p.Glu771Lys)ATP2A1-related disorder [RCV004746207]|Brody myopathy [RCV001041396]|not provided [RCV005255643]uncertain significance162890207328902073Human1name , trait , alternate_id
26923571CV843719single nucleotide variantNM_004320.6(ATP2A1):c.2429A>G (p.Asn810Ser)Brody myopathy [RCV001064238]uncertain significance162890229128902291Human1name
26907563CV843720single nucleotide variantNM_004320.6(ATP2A1):c.2434C>T (p.Pro812Ser)Brody myopathy [RCV001038024]|Inborn genetic diseases [RCV004031054]uncertain significance162890229628902296Human2name
26886718CV843721single nucleotide variantNM_004320.6(ATP2A1):c.2441T>C (p.Leu814Pro)Brody myopathy [RCV001066239]uncertain significance162890230328902303Human1name
26898712CV843722single nucleotide variantNM_004320.6(ATP2A1):c.2540C>G (p.Ala847Gly)Brody myopathy [RCV001034778]uncertain significance162890259528902595Human1name
26889363CV843723single nucleotide variantNM_004320.6(ATP2A1):c.2621T>C (p.Met874Thr)Brody myopathy [RCV001067453]uncertain significance162890278828902788Human1name
26898823CV843724single nucleotide variantNM_004320.6(ATP2A1):c.2653G>A (p.Gly885Ser)Brody myopathy [RCV001070776]uncertain significance162890282028902820Human1name
26915297CV843725single nucleotide variantNM_004320.6(ATP2A1):c.2710C>G (p.Leu904Val)Brody myopathy [RCV001055612]|not provided [RCV001760001]uncertain significance162890287728902877Human1name
26911440CV843726single nucleotide variantNM_004320.6(ATP2A1):c.2840T>C (p.Ile947Thr)Brody myopathy [RCV001038786]|not provided [RCV005093310]uncertain significance162890312528903125Human1name
26889987CV843727single nucleotide variantNM_004320.6(ATP2A1):c.2911C>T (p.Leu971Phe)Brody myopathy [RCV001045829]uncertain significance162890337128903371Human1name
26891322CV843728single nucleotide variantNM_004320.6(ATP2A1):c.2930T>C (p.Val977Ala)Brody myopathy [RCV001046391]uncertain significance162890339028903390Human1name
26902910CV858305single nucleotide variantNM_004320.6(ATP2A1):c.2284C>T (p.Arg762Cys)Brody myopathy [RCV001089652]likely pathogenic|uncertain significance162890204628902046Human1name
28881613CV875079single nucleotide variantNM_004320.6(ATP2A1):c.1936G>A (p.Glu646Lys)Brody myopathy [RCV001117887]uncertain significance162890075228900752Human1name
28886776CV875080single nucleotide variantNM_004320.6(ATP2A1):c.2456G>A (p.Arg819His)Brody myopathy [RCV001119443]uncertain significance162890231828902318Human1name
28892701CV875081single nucleotide variantNM_004320.6(ATP2A1):c.2630C>T (p.Thr877Ile)Brody myopathy [RCV001121435]uncertain significance162890279728902797Human1name
28892704CV875082single nucleotide variantNM_004320.6(ATP2A1):c.2959G>C (p.Val987Leu)Brody myopathy [RCV001121436]uncertain significance162890341928903419Human1name
38494209CV927762single nucleotide variantNM_004320.6(ATP2A1):c.1666C>T (p.Arg556Trp)Brody myopathy [RCV001224806]|not provided [RCV004778015]uncertain significance162889835328898353Human1name
38487160CV927763single nucleotide variantNM_004320.6(ATP2A1):c.1712C>T (p.Pro571Leu)Brody myopathy [RCV001220636]uncertain significance162889839928898399Human1name
38493108CV927764single nucleotide variantNM_004320.6(ATP2A1):c.1717C>T (p.Arg573Ter)Brody myopathy [RCV001224046]pathogenic162889840428898404Human1name
38489045CV927765single nucleotide variantNM_004320.6(ATP2A1):c.1780G>C (p.Val594Leu)Brody myopathy [RCV001221501]uncertain significance162890059628900596Human1name
38475013CV927766single nucleotide variantNM_004320.6(ATP2A1):c.2932A>G (p.Ile978Val)Brody myopathy [RCV001214986]|not specified [RCV003398949]uncertain significance162890339228903392Human1name
38483969CV937402single nucleotide variantNM_004320.6(ATP2A1):c.1552C>T (p.Pro518Ser)Brody myopathy [RCV001207850]uncertain significance162889823928898239Human1name
38457099CV937403single nucleotide variantNM_004320.6(ATP2A1):c.1975G>A (p.Asp659Asn)Brody myopathy [RCV001211031]uncertain significance162890079128900791Human1name
38495190CV949352single nucleotide variantNM_004320.6(ATP2A1):c.1570C>T (p.Arg524Cys)Brody myopathy [RCV001225560]uncertain significance162889825728898257Human1name
38477303CV949353single nucleotide variantNM_004320.6(ATP2A1):c.1601G>A (p.Arg534Gln)Brody myopathy [RCV001233428]uncertain significance162889828828898288Human1name
38486788CV949354single nucleotide variantNM_004320.6(ATP2A1):c.1712C>A (p.Pro571Gln)Brody myopathy [RCV001237317]|Inborn genetic diseases [RCV004963266]uncertain significance162889839928898399Human2name
38495940CV949355single nucleotide variantNM_004320.6(ATP2A1):c.2423G>A (p.Gly808Asp)Brody myopathy [RCV001226083]uncertain significance162890228528902285Human1name
38460898CV949356single nucleotide variantNM_004320.6(ATP2A1):c.2695A>G (p.Met899Val)Brody myopathy [RCV001229434]uncertain significance162890286228902862Human1name
38457925CV957726single nucleotide variantNM_004320.6(ATP2A1):c.1285G>A (p.Glu429Lys)Brody myopathy [RCV001246122]uncertain significance162889460528894605Human1name
38497799CV957727single nucleotide variantNM_004320.6(ATP2A1):c.1567G>A (p.Asp523Asn)Brody myopathy [RCV001243414]uncertain significance162889825428898254Human1name
38492191CV957728single nucleotide variantNM_004320.6(ATP2A1):c.1741T>C (p.Ser581Pro)Brody myopathy [RCV001239794]uncertain significance162889842828898428Human1name
38464509CV957729single nucleotide variantNM_004320.6(ATP2A1):c.1843C>T (p.Arg615Cys)Brody myopathy [RCV001247407]uncertain significance162890065928900659Human1name
126757722CV996849single nucleotide variantNM_004320.6(ATP2A1):c.1786G>A (p.Val596Ile)Brody myopathy [RCV001298972]|Inborn genetic diseases [RCV002541878]uncertain significance162890060228900602Human2name
126734972CV996850single nucleotide variantNM_004320.6(ATP2A1):c.2045C>T (p.Ser682Leu)Brody myopathy [RCV001304531]|not provided [RCV004697103]uncertain significance162890086128900861Human1name
126733589CV996851single nucleotide variantNM_004320.6(ATP2A1):c.2146A>G (p.Ile716Val)Brody myopathy [RCV001304297]uncertain significance162890190828901908Human1name
126759873CV996852single nucleotide variantNM_004320.6(ATP2A1):c.2333C>T (p.Thr778Ile)Brody myopathy [RCV001299621]uncertain significance162890219528902195Human1name
126764624CV996853single nucleotide variantNM_004320.6(ATP2A1):c.2620A>G (p.Met874Val)Brody myopathy [RCV001301163]uncertain significance162890278728902787Human1name
126732325CV996854single nucleotide variantNM_004320.6(ATP2A1):c.2902C>T (p.Leu968Phe)Brody myopathy [RCV001304066]|not provided [RCV003482362]uncertain significance162890336228903362Human1name
13805953CV570087microsatelliteNM_004320.6(ATP2A1):c.195CCT[1] (p.Leu67del)Brody myopathy [RCV000700373]|not provided [RCV001726309]likely pathogenic|uncertain significance162887955728879559Humanname
150502403CV1241242insertionNM_004320.6(ATP2A1):c.1765-140_1765-139insTTGnot provided [RCV001657138]benign162890044128900442Humanname
151827922CV1396458inversionNM_004320.6(ATP2A1):c.678_679inv (p.Gly227Ser)Brody myopathy [RCV001934771]uncertain significance162888747228887473Humanname
151860752CV1400304microsatelliteNM_004320.6(ATP2A1):c.1814AGG[1] (p.Glu606del)Brody myopathy [RCV001980089]uncertain significance162890063028900632Humanname
155945310CV1935584microsatelliteNM_004320.6(ATP2A1):c.2261ACA[2] (p.Asn756del)not provided [RCV002511332]uncertain significance162890202328902025Humanname
13808891CV570233microsatelliteNM_004320.6(ATP2A1):c.2209GAC[1] (p.Asp738del)Brody myopathy [RCV000687494]uncertain significance162890197128901973Humanname
126731094CV1021439microsatelliteNM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs)Brody myopathy [RCV001333623]pathogenic162889835628898357Humanname
151761600CV1358253deletionNM_004320.6(ATP2A1):c.2056_2057del (p.Lys686fs)Brody myopathy [RCV001928587]pathogenic162890087228900873Human1name
151765169CV1393686deletionNM_004320.6(ATP2A1):c.2857_2858del (p.Leu953fs)Brody myopathy [RCV002008303]uncertain significance162890314228903143Human1name
151827285CV1438615deletionNM_004320.6(ATP2A1):c.2615_2618del (p.His872fs)Brody myopathy [RCV001993358]pathogenic162890278228902785Human1name
597830445CV3743012deletionNM_004320.6(ATP2A1):c.1553_1554del (p.Pro518fs)Brody myopathy [RCV005062020]pathogenic162889824028898241Human1name
13470565CV441895microsatelliteNM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs)ATP2A1-related disorder [RCV003409731]|Brody myopathy [RCV000550407]|not provided [RCV000517623]pathogenic162889842728898428Humanname , trait , alternate_id
156366327CV1908512indelNM_004320.6(ATP2A1):c.1130_1131delinsTT (p.Cys377Phe)Brody myopathy [RCV002582089]uncertain significance162889418928894190Humanname
156142956CV2123858indelNM_004320.6(ATP2A1):c.1817_1818delinsTC (p.Glu606Val)Brody myopathy [RCV002982381]uncertain significance162890063328900634Humanname
14702160CV644556indelNM_004320.6(ATP2A1):c.1384_1385delinsGC (p.Leu462Ala)Brody myopathy [RCV000822353]uncertain significance162889491828894919Humanname
13472869CV466603indelNM_004320.6(ATP2A1):c.909_920delinsACGGCATA (p.Val304fs)Brody myopathy [RCV000534880]pathogenic162888770328887714Humanname
402510589CV3178312microsatelliteNM_004320.6(ATP2A1):c.2664_2665del (p.Cys888_Glu889delinsTer)Brody myopathy [RCV003878929]pathogenic162890282928902830Humanname