| 150431790 | CV1246055 | single nucleotide variant | NM_004320.6(ATP2A1):c.-2C>T | not provided [RCV001663467] | uncertain significance | 16 | 28878670 | 28878670 | Human | | name |
| 13526386 | CV505339 | single nucleotide variant | NM_004320.6(ATP2A1):c.-7G>A | not specified [RCV000604091] | likely benign | 16 | 28878665 | 28878665 | Human | | name |
| 8643450 | CV102433 | single nucleotide variant | NM_004320.6(ATP2A1):c.*64G>A | Brody myopathy [RCV000291889]|not provided [RCV000991555]|not specified [RCV000082694] | benign | 16 | 28904206 | 28904206 | Human | 2 | name |
| 8643450 | CV102433 | single nucleotide variant | NM_004320.6(ATP2A1):c.*64G>A | Brody myopathy [RCV000291889]|not provided [RCV000991555]|not specified [RCV000082694] | benign | 16 | 28904206 | 28904207 | Human | 2 | name |
| 127293860 | CV1157677 | single nucleotide variant | NM_004320.6(ATP2A1):c.*51A>G | Brody myopathy [RCV001511511] | benign | 16 | 28904193 | 28904193 | Human | 1 | name |
| 11622829 | CV342633 | single nucleotide variant | NM_004320.6(ATP2A1):c.-22C>T | Brody myopathy [RCV000365204]|not provided [RCV004715071]|not specified [RCV000439412] | benign | 16 | 28878650 | 28878650 | Human | 1 | name |
| 12833467 | CV375355 | single nucleotide variant | NM_004320.6(ATP2A1):c.-12G>A | Brody myopathy [RCV001117782]|not specified [RCV000418549] | likely benign | 16 | 28878660 | 28878660 | Human | 1 | name |
| 597941423 | CV3819273 | single nucleotide variant | NM_004320.6(ATP2A1):c.*48T>C | Brody myopathy [RCV005159083] | likely benign | 16 | 28904190 | 28904190 | Human | 1 | name |
| 28881271 | CV875073 | single nucleotide variant | NM_004320.6(ATP2A1):c.-15C>T | Brody myopathy [RCV001117781] | uncertain significance | 16 | 28878657 | 28878657 | Human | 1 | name |
| 11664541 | CV324951 | single nucleotide variant | NM_173201.4(ATP2A1):c.*287G>A | Brody myopathy [RCV000406924] | uncertain significance | 16 | 28904492 | 28904492 | Human | 1 | name |
| 11614702 | CV324963 | single nucleotide variant | NM_173201.4(ATP2A1):c.*298C>T | Brody myopathy [RCV000279247]|not provided [RCV004715072] | benign|likely benign | 16 | 28904503 | 28904503 | Human | 1 | name |
| 11619678 | CV334630 | single nucleotide variant | NM_004320.6(ATP2A1):c.*103C>T | Brody myopathy [RCV000328122]|not provided [RCV004694262] | uncertain significance | 16 | 28904245 | 28904245 | Human | 1 | name |
| 11616245 | CV342646 | single nucleotide variant | NM_004320.6(ATP2A1):c.*174A>G | Brody myopathy [RCV000293160] | uncertain significance | 16 | 28904316 | 28904316 | Human | 1 | name |
| 11658871 | CV342655 | single nucleotide variant | NM_004320.6(ATP2A1):c.*203G>C | Brody myopathy [RCV000352730] | uncertain significance | 16 | 28904345 | 28904345 | Human | 1 | name |
| 14718402 | CV668464 | single nucleotide variant | NM_173201.3(ATP2A1):c.-507C>A | not provided [RCV000830380] | benign | 16 | 28878165 | 28878165 | Human | 6 | name |
| 14718402 | CV668464 | single nucleotide variant | NM_173201.3(ATP2A1):c.-507C>A | not provided [RCV000830380] | benign | 16 | 28878165 | 28878166 | Human | 6 | name |
| 28892706 | CV875083 | single nucleotide variant | NM_004320.6(ATP2A1):c.*158A>T | Brody myopathy [RCV001121437] | uncertain significance | 16 | 28904300 | 28904300 | Human | 1 | name |
| 28877329 | CV875084 | single nucleotide variant | NM_004320.6(ATP2A1):c.*234T>G | Brody myopathy [RCV001116543] | uncertain significance | 16 | 28904376 | 28904376 | Human | 1 | name |
| 127259413 | CV1081948 | single nucleotide variant | NM_004320.6(ATP2A1):c.631-6T>A | Brody myopathy [RCV001401937] | likely benign | 16 | 28887419 | 28887419 | Human | 1 | name |
| 127244409 | CV1103767 | single nucleotide variant | NM_004320.6(ATP2A1):c.929-5C>G | Brody myopathy [RCV001435021] | likely benign | 16 | 28888782 | 28888782 | Human | 1 | name |
| 127299637 | CV1146065 | single nucleotide variant | NM_004320.6(ATP2A1):c.324+8T>C | Brody myopathy [RCV001498358] | likely benign | 16 | 28881027 | 28881027 | Human | 1 | name |
| 150536726 | CV1314238 | single nucleotide variant | NM_004320.6(ATP2A1):c.324+1G>A | Brody myopathy [RCV001780663] | likely pathogenic | 16 | 28881020 | 28881020 | Human | 1 | name |
| 151863406 | CV1365250 | duplication | NM_004320.6(ATP2A1):c.928+1dup | Brody myopathy [RCV002018049] | likely pathogenic | 16 | 28887721 | 28887722 | Human | 1 | name |
| 151744290 | CV1406857 | single nucleotide variant | NM_004320.6(ATP2A1):c.118+1G>A | Brody myopathy [RCV002006136] | likely pathogenic | 16 | 28878790 | 28878790 | Human | 1 | name |
| 152056567 | CV1649665 | single nucleotide variant | NM_004320.6(ATP2A1):c.137-9C>T | Brody myopathy [RCV002127852] | likely benign | 16 | 28879492 | 28879492 | Human | 1 | name |
| 156395771 | CV1877204 | single nucleotide variant | NM_004320.6(ATP2A1):c.928+9G>A | Brody myopathy [RCV003068573] | likely benign | 16 | 28887731 | 28887731 | Human | 1 | name |
| 156400469 | CV1892837 | single nucleotide variant | NM_004320.6(ATP2A1):c.118+1G>T | Brody myopathy [RCV003069085] | likely pathogenic | 16 | 28878790 | 28878790 | Human | 1 | name |
| 156412567 | CV1904489 | single nucleotide variant | NM_004320.6(ATP2A1):c.464-5C>T | Brody myopathy [RCV002587865] | likely benign | 16 | 28884570 | 28884570 | Human | 1 | name |
| 156030789 | CV2001190 | single nucleotide variant | NM_004320.6(ATP2A1):c.545-9T>A | Brody myopathy [RCV002658650] | likely benign | 16 | 28887180 | 28887180 | Human | 1 | name |
| 156136025 | CV2006386 | single nucleotide variant | NM_004320.6(ATP2A1):c.544+1G>A | Brody myopathy [RCV002663393] | likely pathogenic | 16 | 28884656 | 28884656 | Human | 1 | name |
| 156008930 | CV2038834 | single nucleotide variant | NM_004320.6(ATP2A1):c.631-9C>G | Brody myopathy [RCV002794991] | likely benign | 16 | 28887416 | 28887416 | Human | 1 | name |
| 156334494 | CV2113008 | deletion | NM_004320.6(ATP2A1):c.464-5del | Brody myopathy [RCV002938551] | likely benign | 16 | 28884569 | 28884569 | Human | 1 | name |
| 405173948 | CV3122978 | single nucleotide variant | NM_004320.6(ATP2A1):c.137-7C>A | Brody myopathy [RCV003819376] | likely benign | 16 | 28879494 | 28879494 | Human | 1 | name |
| 405251616 | CV3177426 | single nucleotide variant | NM_004320.6(ATP2A1):c.219+5G>A | Brody myopathy [RCV003870384] | uncertain significance | 16 | 28879588 | 28879588 | Human | 1 | name |
| 8566394 | CV32843 | single nucleotide variant | NM_004320.6(ATP2A1):c.219+1G>C | Brody myopathy [RCV000019382] | pathogenic | 16 | 28879584 | 28879584 | Human | 1 | name |
| 597861249 | CV3770199 | single nucleotide variant | NM_004320.6(ATP2A1):c.631-8C>T | Brody myopathy [RCV005106051] | likely benign | 16 | 28887417 | 28887417 | Human | 1 | name |
| 12898493 | CV409604 | duplication | NM_004320.6(ATP2A1):c.118+2dup | not specified [RCV000478035] | uncertain significance | 16 | 28878790 | 28878791 | Human | | name |
| 13472573 | CV466347 | single nucleotide variant | NM_004320.6(ATP2A1):c.137-4C>G | Brody myopathy [RCV000532712] | likely benign | 16 | 28879497 | 28879497 | Human | 1 | name |
| 13818040 | CV570092 | single nucleotide variant | NM_004320.6(ATP2A1):c.325-2A>T | Brody myopathy [RCV000707425] | likely pathogenic | 16 | 28882449 | 28882449 | Human | 1 | name |
| 13820659 | CV570227 | duplication | NM_004320.6(ATP2A1):c.136+2dup | Brody myopathy [RCV000703882] | uncertain significance | 16 | 28879117 | 28879118 | Human | 1 | name |
| 15118845 | CV695686 | single nucleotide variant | NM_004320.6(ATP2A1):c.324+7G>A | Brody myopathy [RCV000873771] | likely benign | 16 | 28881026 | 28881026 | Human | 1 | name |
| 15137749 | CV695687 | single nucleotide variant | NM_004320.6(ATP2A1):c.929-9T>C | not provided [RCV000877050] | likely benign | 16 | 28888778 | 28888778 | Human | | name |
| 26896050 | CV851667 | single nucleotide variant | NM_004320.6(ATP2A1):c.324+1G>C | Brody myopathy [RCV001069848] | likely pathogenic | 16 | 28881020 | 28881020 | Human | 1 | name |
| 38497766 | CV960153 | single nucleotide variant | NM_004320.6(ATP2A1):c.137-5C>G | Brody myopathy [RCV001227301] | likely benign|uncertain significance | 16 | 28879496 | 28879496 | Human | 1 | name |
| 8643452 | CV102435 | deletion | NM_004320.6(ATP2A1):c.1764+6del | Brody myopathy [RCV000290200]|not provided [RCV001719849]|not specified [RCV000082696] | benign|likely benign|conflicting interpretations of pathogenicity | 16 | 28898457 | 28898457 | Human | 1 | name |
| 127276290 | CV1081947 | single nucleotide variant | NM_004320.6(ATP2A1):c.463+10A>G | ATP2A1-related disorder [RCV004746371]|Brody myopathy [RCV001407112] | likely benign | 16 | 28882599 | 28882599 | Human | 1 | name , trait , alternate_id |
| 127254614 | CV1103763 | single nucleotide variant | NM_004320.6(ATP2A1):c.137-10C>T | Brody myopathy [RCV001437292] | likely benign | 16 | 28879491 | 28879491 | Human | 1 | name |
| 127268221 | CV1103768 | single nucleotide variant | NM_004320.6(ATP2A1):c.1546-8T>C | Brody myopathy [RCV001440712] | likely benign | 16 | 28898225 | 28898225 | Human | 1 | name |
| 127315091 | CV1146069 | single nucleotide variant | NM_004320.6(ATP2A1):c.1288-8C>T | Brody myopathy [RCV001502629] | likely benign | 16 | 28894814 | 28894814 | Human | 1 | name |
| 150479533 | CV1207852 | single nucleotide variant | NM_004320.6(ATP2A1):c.*37+61G>C | not provided [RCV001590128] | likely benign | 16 | 28903802 | 28903802 | Human | | name |
| 150467882 | CV1240952 | single nucleotide variant | NM_004320.6(ATP2A1):c.*38-48T>C | not provided [RCV001650410] | benign | 16 | 28904132 | 28904132 | Human | | name |
| 151800030 | CV1445979 | deletion | NM_004320.6(ATP2A1):c.2863-8del | Brody myopathy [RCV002011480] | uncertain significance | 16 | 28903315 | 28903315 | Human | 1 | name |
| 151755838 | CV1449290 | single nucleotide variant | NM_004320.6(ATP2A1):c.2322-2A>G | ATP2A1-related disorder [RCV003408056]|Brody myopathy [RCV001986741] | likely pathogenic | 16 | 28902182 | 28902182 | Human | 1 | name , trait , alternate_id |
| 151837948 | CV1468184 | single nucleotide variant | NM_004320.6(ATP2A1):c.220-14C>T | Brody myopathy [RCV001956390] | likely benign | 16 | 28880901 | 28880901 | Human | 1 | name |
| 152110422 | CV1536986 | deletion | NM_004320.6(ATP2A1):c.2863-9del | Brody myopathy [RCV002215409] | benign | 16 | 28903311 | 28903311 | Human | 1 | name |
| 152045035 | CV1556051 | duplication | NM_004320.6(ATP2A1):c.2322-5dup | Brody myopathy [RCV002206829] | likely benign | 16 | 28902176 | 28902177 | Human | 1 | name |
| 152152399 | CV1565206 | single nucleotide variant | NM_004320.6(ATP2A1):c.137-11T>C | Brody myopathy [RCV002102429] | likely benign | 16 | 28879490 | 28879490 | Human | 1 | name |
| 152128085 | CV1572189 | single nucleotide variant | NM_004320.6(ATP2A1):c.2101-9C>T | Brody myopathy [RCV002217685] | likely benign | 16 | 28901854 | 28901854 | Human | 1 | name |
| 152120052 | CV1576134 | single nucleotide variant | NM_004320.6(ATP2A1):c.1764+7A>C | Brody myopathy [RCV002197926] | likely benign | 16 | 28898458 | 28898458 | Human | 1 | name |
| 152079896 | CV1579939 | single nucleotide variant | NM_004320.6(ATP2A1):c.929-14C>T | Brody myopathy [RCV002076228] | likely benign | 16 | 28888773 | 28888773 | Human | 1 | name |
| 152167426 | CV1600693 | single nucleotide variant | NM_004320.6(ATP2A1):c.1545+7A>G | Brody myopathy [RCV002160866] | likely benign | 16 | 28898132 | 28898132 | Human | 1 | name |
| 152110238 | CV1603443 | single nucleotide variant | NM_004320.6(ATP2A1):c.2744+9C>G | Brody myopathy [RCV002096750] | likely benign | 16 | 28902920 | 28902920 | Human | 1 | name |
| 152140819 | CV1628832 | single nucleotide variant | NM_004320.6(ATP2A1):c.463+15C>T | Brody myopathy [RCV002100749] | likely benign | 16 | 28882604 | 28882604 | Human | 1 | name |
| 152032730 | CV1629492 | single nucleotide variant | NM_004320.6(ATP2A1):c.630+11C>T | Brody myopathy [RCV002106423] | likely benign | 16 | 28887285 | 28887285 | Human | 1 | name |
| 152139034 | CV1637983 | single nucleotide variant | NM_004320.6(ATP2A1):c.545-20C>A | Brody myopathy [RCV002177808] | likely benign | 16 | 28887169 | 28887169 | Human | 1 | name |
| 152088824 | CV1638975 | single nucleotide variant | NM_004320.6(ATP2A1):c.324+12C>T | Brody myopathy [RCV002150319] | likely benign | 16 | 28881031 | 28881031 | Human | 1 | name |
| 156288583 | CV1885032 | single nucleotide variant | NM_004320.6(ATP2A1):c.1764+6C>T | Brody myopathy [RCV003061352] | uncertain significance | 16 | 28898457 | 28898457 | Human | 1 | name |
| 156233907 | CV1885336 | single nucleotide variant | NM_004320.6(ATP2A1):c.2744+4G>A | Brody myopathy [RCV003085479] | uncertain significance | 16 | 28902915 | 28902915 | Human | 1 | name |
| 156028870 | CV1903145 | single nucleotide variant | NM_004320.6(ATP2A1):c.630+12G>A | Brody myopathy [RCV003100556] | likely benign | 16 | 28887286 | 28887286 | Human | 1 | name |
| 156028783 | CV1923064 | single nucleotide variant | NM_004320.6(ATP2A1):c.2321+9C>T | Brody myopathy [RCV002637065] | likely benign | 16 | 28902092 | 28902092 | Human | 1 | name |
| 156440358 | CV1946776 | single nucleotide variant | NM_004320.6(ATP2A1):c.137-19C>T | Brody myopathy [RCV003110390] | likely benign | 16 | 28879482 | 28879482 | Human | 1 | name |
| 156172245 | CV1968392 | single nucleotide variant | NM_004320.6(ATP2A1):c.544+15G>C | Brody myopathy [RCV002594805] | likely benign | 16 | 28884670 | 28884670 | Human | 1 | name |
| 156262958 | CV1977621 | single nucleotide variant | NM_004320.6(ATP2A1):c.464-10C>G | Brody myopathy [RCV002597842] | likely benign | 16 | 28884565 | 28884565 | Human | 1 | name |
| 156218535 | CV2015378 | single nucleotide variant | NM_004320.6(ATP2A1):c.219+10G>A | Brody myopathy [RCV002700912] | likely benign | 16 | 28879593 | 28879593 | Human | 1 | name |
| 155913169 | CV2081458 | single nucleotide variant | NM_004320.6(ATP2A1):c.137-14G>C | Brody myopathy [RCV002858635] | likely benign | 16 | 28879487 | 28879487 | Human | 1 | name |
| 156060119 | CV2098456 | single nucleotide variant | NM_004320.6(ATP2A1):c.*38-20C>T | Brody myopathy [RCV002886479] | likely benign | 16 | 28904160 | 28904160 | Human | 1 | name |
| 156040282 | CV2121476 | single nucleotide variant | NM_004320.6(ATP2A1):c.544+18G>T | Brody myopathy [RCV002923888] | likely benign | 16 | 28884673 | 28884673 | Human | 1 | name |
| 156149015 | CV2154321 | single nucleotide variant | NM_004320.6(ATP2A1):c.136+20G>A | Brody myopathy [RCV003022786] | likely benign | 16 | 28879136 | 28879136 | Human | 1 | name |
| 401962782 | CV2845404 | single nucleotide variant | NM_004320.6(ATP2A1):c.1288-5C>G | not provided [RCV003482865] | uncertain significance | 16 | 28894817 | 28894817 | Human | | name |
| 405042437 | CV2874395 | single nucleotide variant | NM_004320.6(ATP2A1):c.325-20C>T | Brody myopathy [RCV003518123] | likely benign | 16 | 28882431 | 28882431 | Human | 1 | name |
| 405047764 | CV2883044 | single nucleotide variant | NM_004320.6(ATP2A1):c.119-16T>C | Brody myopathy [RCV003518597] | likely benign | 16 | 28879083 | 28879083 | Human | 1 | name |
| 405046960 | CV2885947 | single nucleotide variant | NM_004320.6(ATP2A1):c.2524+1G>A | Brody myopathy [RCV003518525] | likely pathogenic | 16 | 28902387 | 28902387 | Human | 1 | name |
| 405058401 | CV2995539 | single nucleotide variant | NM_004320.6(ATP2A1):c.2525-1G>A | Brody myopathy [RCV003631916] | likely pathogenic | 16 | 28902579 | 28902579 | Human | 1 | name |
| 405058752 | CV3004545 | single nucleotide variant | NM_004320.6(ATP2A1):c.544+12T>G | Brody myopathy [RCV003632022] | likely benign | 16 | 28884667 | 28884667 | Human | 1 | name |
| 405066953 | CV3075933 | single nucleotide variant | NM_004320.6(ATP2A1):c.928+18T>C | Brody myopathy [RCV003632812] | likely benign | 16 | 28887740 | 28887740 | Human | 1 | name |
| 405194259 | CV3128567 | single nucleotide variant | NM_004320.6(ATP2A1):c.630+20C>G | Brody myopathy [RCV003821304] | likely benign | 16 | 28887294 | 28887294 | Human | 1 | name |
| 405062983 | CV3148459 | single nucleotide variant | NM_004320.6(ATP2A1):c.631-12T>C | Brody myopathy [RCV003850415] | likely benign | 16 | 28887413 | 28887413 | Human | 1 | name |
| 405221863 | CV3154842 | single nucleotide variant | NM_004320.6(ATP2A1):c.463+16G>C | Brody myopathy [RCV003847337] | likely benign | 16 | 28882605 | 28882605 | Human | 1 | name |
| 402514004 | CV3178772 | single nucleotide variant | NM_004320.6(ATP2A1):c.2610+8G>A | Brody myopathy [RCV003879205] | likely benign | 16 | 28902673 | 28902673 | Human | 1 | name |
| 11623280 | CV341114 | single nucleotide variant | NM_004320.6(ATP2A1):c.220-11C>T | Brody myopathy [RCV000371054] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 28880904 | 28880904 | Human | 1 | name |
| 11622545 | CV342641 | single nucleotide variant | NM_004320.6(ATP2A1):c.2524+3G>T | Brody myopathy [RCV000361810]|not provided [RCV000991556]|not specified [RCV000425932] | benign|likely benign|conflicting interpretations of pathogenicity | 16 | 28902389 | 28902389 | Human | 1 | name |
| 12849152 | CV374322 | single nucleotide variant | NM_004320.6(ATP2A1):c.1184+1G>A | Brody myopathy [RCV000812735]|not provided [RCV000424927] | pathogenic|likely pathogenic | 16 | 28894244 | 28894244 | Human | 1 | name |
| 597841288 | CV3752806 | single nucleotide variant | NM_004320.6(ATP2A1):c.545-17T>C | Brody myopathy [RCV005086535] | likely benign | 16 | 28887172 | 28887172 | Human | 1 | name |
| 12833101 | CV375356 | single nucleotide variant | NM_004320.6(ATP2A1):c.463+16G>A | Brody myopathy [RCV002525389]|not specified [RCV000417867] | likely benign | 16 | 28882605 | 28882605 | Human | 1 | name |
| 597850311 | CV3761802 | single nucleotide variant | NM_004320.6(ATP2A1):c.463+11G>A | Brody myopathy [RCV005087898] | likely benign | 16 | 28882600 | 28882600 | Human | 1 | name |
| 597847619 | CV3792830 | duplication | NM_004320.6(ATP2A1):c.137-11dup | Brody myopathy [RCV005144966] | likely benign | 16 | 28879489 | 28879490 | Human | 1 | name |
| 597960563 | CV3794687 | single nucleotide variant | NM_004320.6(ATP2A1):c.118+14G>A | Brody myopathy [RCV005138592] | likely benign | 16 | 28878803 | 28878803 | Human | 1 | name |
| 597957709 | CV3848930 | single nucleotide variant | NM_004320.6(ATP2A1):c.2980+1G>C | Brody myopathy [RCV005191931] | uncertain significance | 16 | 28903441 | 28903441 | Human | 1 | name |
| 597937524 | CV3852623 | single nucleotide variant | NM_004320.6(ATP2A1):c.1546-9G>T | Brody myopathy [RCV005187022] | likely benign | 16 | 28898224 | 28898224 | Human | 1 | name |
| 597873332 | CV3859247 | single nucleotide variant | NM_004320.6(ATP2A1):c.325-11T>C | Brody myopathy [RCV005197836] | likely benign | 16 | 28882440 | 28882440 | Human | 1 | name |
| 13212436 | CV426168 | single nucleotide variant | NM_004320.6(ATP2A1):c.1546-6T>A | not provided [RCV000498816] | uncertain significance | 16 | 28898227 | 28898227 | Human | | name |
| 13472677 | CV466353 | single nucleotide variant | NM_004320.6(ATP2A1):c.1287+5C>T | Brody myopathy [RCV000533483] | uncertain significance | 16 | 28894612 | 28894612 | Human | 1 | name |
| 13472766 | CV466621 | single nucleotide variant | NM_004320.6(ATP2A1):c.1765-4C>G | Brody myopathy [RCV000534304] | likely benign | 16 | 28900577 | 28900577 | Human | 1 | name |
| 13476567 | CV466624 | single nucleotide variant | NM_004320.6(ATP2A1):c.2862+9T>G | Brody myopathy [RCV000558105] | likely benign | 16 | 28903156 | 28903156 | Human | 1 | name |
| 13519383 | CV486141 | single nucleotide variant | NM_004320.6(ATP2A1):c.2862+1G>A | Brody myopathy [RCV004796243]|not provided [RCV000585619] | pathogenic|likely pathogenic | 16 | 28903148 | 28903148 | Human | 1 | name |
| 13527376 | CV505346 | single nucleotide variant | NM_004320.6(ATP2A1):c.630+16C>G | Brody myopathy [RCV002063331]|not specified [RCV000599733] | benign|likely benign | 16 | 28887290 | 28887290 | Human | 1 | name |
| 13527361 | CV505348 | single nucleotide variant | NM_004320.6(ATP2A1):c.631-17C>T | Brody myopathy [RCV002063084]|not specified [RCV000605148] | likely benign | 16 | 28887408 | 28887408 | Human | 1 | name |
| 13537457 | CV505771 | single nucleotide variant | NM_004320.6(ATP2A1):c.631-10C>T | not specified [RCV000610427] | likely benign | 16 | 28887415 | 28887415 | Human | | name |
| 13607727 | CV529900 | single nucleotide variant | NM_004320.6(ATP2A1):c.2101-8T>G | Brody myopathy [RCV000639618]|not provided [RCV004715323] | benign | 16 | 28901855 | 28901855 | Human | 1 | name |
| 14703999 | CV654800 | single nucleotide variant | NM_004320.6(ATP2A1):c.2744+1G>A | Brody myopathy [RCV000825511] | likely pathogenic | 16 | 28902912 | 28902912 | Human | 1 | name |
| 14734660 | CV667509 | single nucleotide variant | NM_004320.6(ATP2A1):c.544+39C>T | not provided [RCV000837656] | benign | 16 | 28884694 | 28884694 | Human | | name |
| 14734932 | CV667510 | single nucleotide variant | NM_004320.6(ATP2A1):c.*38-68A>C | not provided [RCV000837780] | benign | 16 | 28904112 | 28904112 | Human | | name |
| 14734652 | CV668298 | single nucleotide variant | NM_004320.6(ATP2A1):c.118+21C>A | not provided [RCV000837653] | benign | 16 | 28878810 | 28878810 | Human | 1 | name |
| 14734652 | CV668298 | single nucleotide variant | NM_004320.6(ATP2A1):c.118+21C>A | not provided [RCV000837653] | benign | 16 | 28878810 | 28878811 | Human | 1 | name |
| 15137692 | CV695688 | single nucleotide variant | NM_004320.6(ATP2A1):c.1420-6C>T | Brody myopathy [RCV000877041] | likely benign | 16 | 28897994 | 28897994 | Human | 1 | name |
| 15136986 | CV695689 | single nucleotide variant | NM_004320.6(ATP2A1):c.2744+8C>T | Brody myopathy [RCV000876916] | likely benign | 16 | 28902919 | 28902919 | Human | 1 | name |
| 15188893 | CV731060 | single nucleotide variant | NM_004320.6(ATP2A1):c.929-10C>G | Brody myopathy [RCV001481834] | likely benign | 16 | 28888777 | 28888777 | Human | 1 | name |
| 150334343 | CV1172833 | single nucleotide variant | NM_004320.6(ATP2A1):c.545-197C>A | not provided [RCV001539994] | likely benign | 16 | 28886992 | 28886992 | Human | | name |
| 150429041 | CV1188352 | single nucleotide variant | NM_004320.6(ATP2A1):c.464-228G>C | not provided [RCV001563071] | likely benign | 16 | 28884347 | 28884347 | Human | | name |
| 150496189 | CV1206004 | single nucleotide variant | NM_004320.6(ATP2A1):c.928+267T>G | not provided [RCV001593686] | likely benign | 16 | 28887989 | 28887989 | Human | | name |
| 150467756 | CV1207148 | deletion | NM_004320.6(ATP2A1):c.545-178del | not provided [RCV001587940] | likely benign | 16 | 28886993 | 28886993 | Human | | name |
| 150461742 | CV1231514 | single nucleotide variant | NM_004320.6(ATP2A1):c.2863-36A>G | not provided [RCV001641081] | benign | 16 | 28903287 | 28903287 | Human | | name |
| 150474055 | CV1234384 | duplication | NM_004320.6(ATP2A1):c.545-178dup | not provided [RCV001651704] | benign | 16 | 28886992 | 28886993 | Human | | name |
| 150493625 | CV1238706 | deletion | NM_004320.6(ATP2A1):c.*38-153del | not provided [RCV001655250] | benign | 16 | 28904019 | 28904019 | Human | | name |
| 150479256 | CV1239353 | single nucleotide variant | NM_004320.6(ATP2A1):c.2611-11C>G | Brody myopathy [RCV002073024]|not provided [RCV001652516] | benign | 16 | 28902767 | 28902767 | Human | 1 | name |
| 150455769 | CV1246961 | single nucleotide variant | NM_004320.6(ATP2A1):c.136+106C>G | not provided [RCV001668729] | benign | 16 | 28879222 | 28879222 | Human | | name |
| 150470524 | CV1248010 | single nucleotide variant | NM_004320.6(ATP2A1):c.463+317C>A | not provided [RCV001671046] | benign | 16 | 28882906 | 28882906 | Human | | name |
| 150471222 | CV1248182 | single nucleotide variant | NM_004320.6(ATP2A1):c.2980+77C>T | not provided [RCV001671219] | benign | 16 | 28903517 | 28903517 | Human | | name |
| 150471888 | CV1252155 | single nucleotide variant | NM_004320.6(ATP2A1):c.325-254G>A | not provided [RCV001671356] | benign | 16 | 28882197 | 28882197 | Human | | name |
| 150449627 | CV1260846 | duplication | NM_004320.6(ATP2A1):c.*38-153dup | not provided [RCV001680515] | benign | 16 | 28904018 | 28904019 | Human | | name |
| 150500404 | CV1283535 | deletion | NM_004320.6(ATP2A1):c.463+169del | not provided [RCV001718386] | benign | 16 | 28882752 | 28882752 | Human | | name |
| 151748450 | CV1353216 | single nucleotide variant | NM_004320.6(ATP2A1):c.1419+10C>T | Brody myopathy [RCV001912720] | likely benign | 16 | 28894963 | 28894963 | Human | 1 | name |
| 152097891 | CV1531576 | single nucleotide variant | NM_004320.6(ATP2A1):c.1419+11G>A | Brody myopathy [RCV002213611] | likely benign | 16 | 28894964 | 28894964 | Human | 1 | name |
| 152162646 | CV1537274 | single nucleotide variant | NM_004320.6(ATP2A1):c.1096-11C>T | Brody myopathy [RCV002159917] | likely benign | 16 | 28894144 | 28894144 | Human | 1 | name |
| 152045464 | CV1539486 | single nucleotide variant | NM_004320.6(ATP2A1):c.2744+10C>T | Brody myopathy [RCV002145038] | likely benign | 16 | 28902921 | 28902921 | Human | 1 | name |
| 152027391 | CV1562826 | duplication | NM_004320.6(ATP2A1):c.1184+16dup | Brody myopathy [RCV002104876] | likely benign | 16 | 28894258 | 28894259 | Human | 1 | name |
| 152061501 | CV1585280 | single nucleotide variant | NM_004320.6(ATP2A1):c.1095+14T>C | Brody myopathy [RCV002073733] | likely benign | 16 | 28888967 | 28888967 | Human | 1 | name |
| 152159867 | CV1588300 | single nucleotide variant | NM_004320.6(ATP2A1):c.2322-19G>A | Brody myopathy [RCV002180742] | likely benign | 16 | 28902165 | 28902165 | Human | 1 | name |
| 152073312 | CV1598873 | single nucleotide variant | NM_004320.6(ATP2A1):c.2322-14C>T | Brody myopathy [RCV002148380] | likely benign | 16 | 28902170 | 28902170 | Human | 1 | name |
| 152095167 | CV1599571 | single nucleotide variant | NM_004320.6(ATP2A1):c.1287+18T>C | Brody myopathy [RCV002094739] | likely benign | 16 | 28894625 | 28894625 | Human | 1 | name |
| 152041542 | CV1603219 | single nucleotide variant | NM_004320.6(ATP2A1):c.2321+18C>T | Brody myopathy [RCV002071080] | likely benign | 16 | 28902101 | 28902101 | Human | 1 | name |
| 152151220 | CV1605700 | single nucleotide variant | NM_004320.6(ATP2A1):c.2863-19C>T | Brody myopathy [RCV002102260] | likely benign | 16 | 28903304 | 28903304 | Human | 1 | name |
| 152137279 | CV1608985 | single nucleotide variant | NM_004320.6(ATP2A1):c.1287+12T>G | Brody myopathy [RCV002119875] | likely benign | 16 | 28894619 | 28894619 | Human | 1 | name |
| 152164786 | CV1625603 | single nucleotide variant | NM_004320.6(ATP2A1):c.2525-16C>T | Brody myopathy [RCV002160319] | likely benign | 16 | 28902564 | 28902564 | Human | 1 | name |
| 152099936 | CV1627347 | single nucleotide variant | NM_004320.6(ATP2A1):c.1545+11G>A | Brody myopathy [RCV002095386] | likely benign | 16 | 28898136 | 28898136 | Human | 1 | name |
| 152167001 | CV1632808 | single nucleotide variant | NM_004320.6(ATP2A1):c.1288-15C>T | Brody myopathy [RCV002182056] | likely benign | 16 | 28894807 | 28894807 | Human | 1 | name |
| 152091767 | CV1647011 | single nucleotide variant | NM_004320.6(ATP2A1):c.2610+20G>A | Brody myopathy [RCV002150683] | likely benign | 16 | 28902685 | 28902685 | Human | 1 | name |
| 152055525 | CV1648864 | single nucleotide variant | NM_004320.6(ATP2A1):c.2863-12C>T | Brody myopathy [RCV002072883] | likely benign | 16 | 28903311 | 28903311 | Human | 1 | name |
| 152129546 | CV1650598 | single nucleotide variant | NM_004320.6(ATP2A1):c.2611-16C>T | Brody myopathy [RCV002118896] | likely benign | 16 | 28902762 | 28902762 | Human | 1 | name |
| 152144338 | CV1651656 | single nucleotide variant | NM_004320.6(ATP2A1):c.2100+12C>A | Brody myopathy [RCV002138591] | likely benign | 16 | 28900928 | 28900928 | Human | 1 | name |
| 152095968 | CV1653333 | single nucleotide variant | NM_004320.6(ATP2A1):c.2980+12C>T | Brody myopathy [RCV002094841] | likely benign | 16 | 28903452 | 28903452 | Human | 1 | name |
| 152104998 | CV1658867 | single nucleotide variant | NM_004320.6(ATP2A1):c.2321+19G>A | Brody myopathy [RCV002152283] | likely benign | 16 | 28902102 | 28902102 | Human | 1 | name |
| 152030584 | CV1660653 | single nucleotide variant | NM_004320.6(ATP2A1):c.2322-16C>T | Brody myopathy [RCV002105957] | likely benign | 16 | 28902168 | 28902168 | Human | 1 | name |
| 156357075 | CV1877576 | single nucleotide variant | NM_004320.6(ATP2A1):c.2322-14C>A | Brody myopathy [RCV003065328] | likely benign | 16 | 28902170 | 28902170 | Human | 1 | name |
| 156352353 | CV1923549 | single nucleotide variant | NM_004320.6(ATP2A1):c.1287+20C>G | Brody myopathy [RCV002650988] | likely benign | 16 | 28894627 | 28894627 | Human | 1 | name |
| 156445241 | CV1945241 | single nucleotide variant | NM_004320.6(ATP2A1):c.2611-15G>A | Brody myopathy [RCV003116181] | likely benign | 16 | 28902763 | 28902763 | Human | 1 | name |
| 156412064 | CV1970104 | single nucleotide variant | NM_004320.6(ATP2A1):c.1546-17C>T | Brody myopathy [RCV002608433] | likely benign | 16 | 28898216 | 28898216 | Human | 1 | name |
| 156387387 | CV1979870 | single nucleotide variant | NM_004320.6(ATP2A1):c.2862+10C>A | Brody myopathy [RCV002604383] | likely benign | 16 | 28903157 | 28903157 | Human | 1 | name |
| 156231332 | CV1991854 | single nucleotide variant | NM_004320.6(ATP2A1):c.2610+12C>T | Brody myopathy [RCV002626803] | likely benign | 16 | 28902677 | 28902677 | Human | 1 | name |
| 155948502 | CV2058551 | single nucleotide variant | NM_004320.6(ATP2A1):c.2862+14C>G | Brody myopathy [RCV002816129] | likely benign | 16 | 28903161 | 28903161 | Human | 1 | name |
| 156106487 | CV2096442 | single nucleotide variant | NM_004320.6(ATP2A1):c.2524+20C>T | Brody myopathy [RCV002913601] | likely benign | 16 | 28902406 | 28902406 | Human | 1 | name |
| 156314907 | CV2144021 | single nucleotide variant | NM_004320.6(ATP2A1):c.2524+12G>T | Brody myopathy [RCV003011325] | likely benign | 16 | 28902398 | 28902398 | Human | 1 | name |
| 156341338 | CV2174902 | single nucleotide variant | NM_004320.6(ATP2A1):c.2744+19C>T | Brody myopathy [RCV003047753] | likely benign | 16 | 28902930 | 28902930 | Human | 1 | name |
| 405041035 | CV2859821 | single nucleotide variant | NM_004320.6(ATP2A1):c.2862+14C>T | Brody myopathy [RCV003518018] | likely benign | 16 | 28903161 | 28903161 | Human | 1 | name |
| 405043420 | CV2879654 | single nucleotide variant | NM_004320.6(ATP2A1):c.1184+20T>C | Brody myopathy [RCV003518252] | likely benign | 16 | 28894263 | 28894263 | Human | 1 | name |
| 405045532 | CV2881114 | single nucleotide variant | NM_004320.6(ATP2A1):c.1287+16C>T | Brody myopathy [RCV003518396] | likely benign | 16 | 28894623 | 28894623 | Human | 1 | name |
| 405030109 | CV2903261 | single nucleotide variant | NM_004320.6(ATP2A1):c.1095+13G>A | Brody myopathy [RCV003516746] | likely benign | 16 | 28888966 | 28888966 | Human | 1 | name |
| 405033172 | CV2909582 | single nucleotide variant | NM_004320.6(ATP2A1):c.2745-17C>T | Brody myopathy [RCV003516991] | likely benign | 16 | 28903013 | 28903013 | Human | 1 | name |
| 405053774 | CV2970959 | single nucleotide variant | NM_004320.6(ATP2A1):c.1096-10T>C | Brody myopathy [RCV003631588] | likely benign | 16 | 28894145 | 28894145 | Human | 1 | name |
| 405060701 | CV3007311 | deletion | NM_004320.6(ATP2A1):c.2100+15del | Brody myopathy [RCV003632137] | likely benign | 16 | 28900930 | 28900930 | Human | 1 | name |
| 405061315 | CV3027058 | single nucleotide variant | NM_004320.6(ATP2A1):c.2862+16C>A | Brody myopathy [RCV003632286] | likely benign | 16 | 28903163 | 28903163 | Human | 1 | name |
| 405063703 | CV3055335 | single nucleotide variant | NM_004320.6(ATP2A1):c.1419+20G>A | Brody myopathy [RCV003632534] | likely benign | 16 | 28894973 | 28894973 | Human | 1 | name |
| 405067149 | CV3078953 | single nucleotide variant | NM_004320.6(ATP2A1):c.2745-15C>A | Brody myopathy [RCV003632830] | likely benign | 16 | 28903015 | 28903015 | Human | 1 | name |
| 405077282 | CV3156251 | single nucleotide variant | NM_004320.6(ATP2A1):c.1420-17C>T | Brody myopathy [RCV003851309] | likely benign | 16 | 28897983 | 28897983 | Human | 1 | name |
| 402518930 | CV3175309 | single nucleotide variant | NM_004320.6(ATP2A1):c.2525-20C>T | Brody myopathy [RCV003879592] | likely benign | 16 | 28902560 | 28902560 | Human | 1 | name |
| 11623795 | CV341116 | single nucleotide variant | NM_004320.6(ATP2A1):c.1184+12A>G | Brody myopathy [RCV000377582] | uncertain significance | 16 | 28894255 | 28894255 | Human | 1 | name |
| 11615179 | CV341117 | single nucleotide variant | NM_004320.6(ATP2A1):c.1185-11C>T | Brody myopathy [RCV000283183] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 28894494 | 28894494 | Human | 1 | name |
| 12847185 | CV375067 | single nucleotide variant | NM_004320.6(ATP2A1):c.2862+20G>C | Brody myopathy [RCV002059971]|not specified [RCV000443022] | likely benign | 16 | 28903167 | 28903167 | Human | 1 | name |
| 597967860 | CV3752122 | single nucleotide variant | NM_004320.6(ATP2A1):c.2863-18G>A | Brody myopathy [RCV005083316] | likely benign | 16 | 28903305 | 28903305 | Human | 1 | name |
| 12847046 | CV377495 | single nucleotide variant | NM_004320.6(ATP2A1):c.2862+15G>A | Brody myopathy [RCV002058949]|not specified [RCV000442791] | likely benign | 16 | 28903162 | 28903162 | Human | 1 | name |
| 597869317 | CV3835151 | single nucleotide variant | NM_004320.6(ATP2A1):c.2744+14A>C | Brody myopathy [RCV005176327] | likely benign | 16 | 28902925 | 28902925 | Human | 1 | name |
| 597870866 | CV3835613 | single nucleotide variant | NM_004320.6(ATP2A1):c.2980+15C>T | Brody myopathy [RCV005176604] | likely benign | 16 | 28903455 | 28903455 | Human | 1 | name |
| 597916805 | CV3841982 | single nucleotide variant | NM_004320.6(ATP2A1):c.2611-16C>G | Brody myopathy [RCV005183655] | likely benign | 16 | 28902762 | 28902762 | Human | 1 | name |
| 597942932 | CV3847369 | single nucleotide variant | NM_004320.6(ATP2A1):c.1764+11G>A | Brody myopathy [RCV005188288] | likely benign | 16 | 28898462 | 28898462 | Human | 1 | name |
| 597927880 | CV3855571 | single nucleotide variant | NM_004320.6(ATP2A1):c.2610+13C>T | Brody myopathy [RCV005206170] | likely benign | 16 | 28902678 | 28902678 | Human | 1 | name |
| 13540535 | CV505352 | single nucleotide variant | NM_004320.6(ATP2A1):c.1095+11G>C | not specified [RCV000614832] | likely benign | 16 | 28888964 | 28888964 | Human | | name |
| 14734655 | CV667497 | single nucleotide variant | NM_004320.6(ATP2A1):c.325-240A>G | not provided [RCV000837654] | benign | 16 | 28882211 | 28882211 | Human | | name |
| 14739143 | CV667507 | single nucleotide variant | NM_004320.6(ATP2A1):c.464-236G>A | not provided [RCV000839736] | benign | 16 | 28884339 | 28884339 | Human | | name |
| 14734657 | CV668302 | single nucleotide variant | NM_004320.6(ATP2A1):c.325-201T>C | not provided [RCV000837655] | benign | 16 | 28882250 | 28882250 | Human | 1 | name |
| 14734657 | CV668302 | single nucleotide variant | NM_004320.6(ATP2A1):c.325-201T>C | not provided [RCV000837655] | benign | 16 | 28882250 | 28882251 | Human | 1 | name |
| 14737789 | CV668305 | single nucleotide variant | NM_004320.6(ATP2A1):c.1185-95C>T | not provided [RCV000839082] | likely benign | 16 | 28894410 | 28894410 | Human | | name |
| 14736777 | CV668309 | single nucleotide variant | NM_004320.6(ATP2A1):c.1288-30G>A | not provided [RCV000838636] | likely benign | 16 | 28894792 | 28894792 | Human | | name |
| 14739415 | CV668310 | single nucleotide variant | NM_004320.6(ATP2A1):c.2100+37C>T | not provided [RCV000839864] | likely benign | 16 | 28900953 | 28900953 | Human | | name |
| 14739149 | CV668316 | single nucleotide variant | NM_004320.6(ATP2A1):c.2610+40G>A | not provided [RCV000839740] | benign | 16 | 28902705 | 28902705 | Human | | name |
| 14735451 | CV668466 | single nucleotide variant | NM_004320.6(ATP2A1):c.464-225C>T | not provided [RCV000838015] | benign | 16 | 28884350 | 28884350 | Human | | name |
| 14724154 | CV668474 | single nucleotide variant | NM_004320.6(ATP2A1):c.545-295A>G | not provided [RCV000832856] | likely benign | 16 | 28886894 | 28886894 | Human | | name |
| 14734663 | CV668484 | single nucleotide variant | NM_004320.6(ATP2A1):c.1288-59G>C | not provided [RCV000837657] | benign | 16 | 28894763 | 28894763 | Human | 3 | name |
| 14734664 | CV668489 | single nucleotide variant | NM_004320.6(ATP2A1):c.2524+80T>C | not provided [RCV000837658] | benign | 16 | 28902466 | 28902466 | Human | 10 | name |
| 14734691 | CV668502 | single nucleotide variant | NM_004320.6(ATP2A1):c.*37+155G>A | not provided [RCV000837670] | benign | 16 | 28903896 | 28903896 | Human | | name |
| 28886775 | CV876650 | single nucleotide variant | NM_004320.6(ATP2A1):c.2101-15C>T | Brody myopathy [RCV001119442] | uncertain significance | 16 | 28901848 | 28901848 | Human | 1 | name |
| 150405378 | CV1195055 | single nucleotide variant | NM_004320.6(ATP2A1):c.1420-210A>G | not provided [RCV001571601] | likely benign | 16 | 28897790 | 28897790 | Human | | name |
| 150467851 | CV1207164 | single nucleotide variant | NM_004320.6(ATP2A1):c.1764+152G>A | not provided [RCV001587956] | likely benign | 16 | 28898603 | 28898603 | Human | | name |
| 150478099 | CV1207609 | single nucleotide variant | NM_004320.6(ATP2A1):c.2101-236C>T | not provided [RCV001589885] | likely benign | 16 | 28901627 | 28901627 | Human | | name |
| 150507092 | CV1256845 | deletion | NM_004320.6(ATP2A1):c.1765-262del | not provided [RCV001678348] | benign | 16 | 28900309 | 28900309 | Human | | name |
| 150443792 | CV1264643 | deletion | NM_004320.6(ATP2A1):c.2101-221del | not provided [RCV001679627] | benign | 16 | 28901633 | 28901633 | Human | | name |
| 14736775 | CV668475 | single nucleotide variant | NM_004320.6(ATP2A1):c.1095+185C>G | not provided [RCV000838635] | likely benign | 16 | 28889138 | 28889138 | Human | | name |
| 14735453 | CV668492 | single nucleotide variant | NM_004320.6(ATP2A1):c.2980+125G>T | not provided [RCV000838016] | benign | 16 | 28903565 | 28903565 | Human | | name |
| 152137221 | CV1603697 | microsatellite | NM_004320.6(ATP2A1):c.2980+13CT[2] | Brody myopathy [RCV002218884] | likely benign | 16 | 28903453 | 28903454 | Human | | name |
| 11624533 | CV324950 | deletion | NM_004320.6(ATP2A1):c.*158_*159del | Brody myopathy [RCV000387423] | uncertain significance | 16 | 28904300 | 28904301 | Human | 1 | name |
| 405043768 | CV2869186 | microsatellite | NM_004320.6(ATP2A1):c.2101-15CTC[2] | Brody myopathy [RCV003518278] | likely benign | 16 | 28901848 | 28901850 | Human | | name |
| 156195340 | CV1912275 | single nucleotide variant | NM_004320.6(ATP2A1):c.9C>T (p.Ala3=) | Brody myopathy [RCV002595515] | likely benign | 16 | 28878680 | 28878680 | Human | 1 | name |
| 405053443 | CV2960935 | single nucleotide variant | NM_004320.6(ATP2A1):c.6G>A (p.Glu2=) | Brody myopathy [RCV003631488] | likely benign | 16 | 28878677 | 28878677 | Human | 1 | name |
| 597892128 | CV3822857 | single nucleotide variant | NM_004320.6(ATP2A1):c.9C>A (p.Ala3=) | Brody myopathy [RCV005179933] | likely benign | 16 | 28878680 | 28878680 | Human | 1 | name |
| 152132465 | CV1630140 | microsatellite | NM_004320.6(ATP2A1):c.929-13_929-6del | Brody myopathy [RCV002176982] | likely benign | 16 | 28888767 | 28888774 | Human | | name |
| 126727890 | CV1032569 | single nucleotide variant | NM_004320.6(ATP2A1):c.1A>G (p.Met1Val) | Brody myopathy [RCV001348798] | uncertain significance | 16 | 28878672 | 28878672 | Human | 1 | name |
| 127291954 | CV1125167 | single nucleotide variant | NM_004320.6(ATP2A1):c.66G>A (p.Thr22=) | Brody myopathy [RCV001451643] | likely benign | 16 | 28878737 | 28878737 | Human | 1 | name |
| 150465151 | CV1277192 | microsatellite | NM_004320.6(ATP2A1):c.325-45_325-44del | not provided [RCV001710486] | benign | 16 | 28882404 | 28882405 | Human | | name |
| 150536430 | CV1293063 | deletion | NM_004320.6(ATP2A1):c.929-23_929-12del | Brody myopathy [RCV002073999]|not provided [RCV001762849] | benign | 16 | 28888758 | 28888769 | Human | 1 | name |
| 152099246 | CV1546857 | microsatellite | NM_004320.6(ATP2A1):c.*38-14_*38-13del | Brody myopathy [RCV002133052] | likely benign | 16 | 28904163 | 28904164 | Human | | name |
| 152114997 | CV1628144 | microsatellite | NM_004320.6(ATP2A1):c.2525-5_2525-3del | Brody myopathy [RCV002197277] | likely benign | 16 | 28902571 | 28902573 | Human | | name |
| 156411788 | CV1893972 | deletion | NM_004320.6(ATP2A1):c.2101-4_2101-3del | Brody myopathy [RCV003072627] | likely benign | 16 | 28901858 | 28901859 | Human | 1 | name |
| 156309715 | CV1928269 | deletion | NM_004320.6(ATP2A1):c.219+20_219+21del | Brody myopathy [RCV002648085] | likely benign | 16 | 28879603 | 28879604 | Human | 1 | name |
| 156120430 | CV1982724 | single nucleotide variant | NM_004320.6(ATP2A1):c.4G>A (p.Glu2Lys) | Brody myopathy [RCV002622923] | uncertain significance | 16 | 28878675 | 28878675 | Human | 1 | name |
| 156332540 | CV2000686 | microsatellite | NM_004320.6(ATP2A1):c.119-15_119-13del | Brody myopathy [RCV002649900]|not provided [RCV003126258] | likely benign | 16 | 28879079 | 28879081 | Human | | name |
| 11647170 | CV334586 | single nucleotide variant | NM_004320.6(ATP2A1):c.78G>A (p.Pro26=) | Brody myopathy [RCV000275115] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 28878749 | 28878749 | Human | 1 | name |
| 597920296 | CV3811764 | single nucleotide variant | NM_004320.6(ATP2A1):c.90G>A (p.Lys30=) | Brody myopathy [RCV005155595] | likely benign | 16 | 28878761 | 28878761 | Human | 1 | name |
| 14708300 | CV668761 | microsatellite | NM_004320.6(ATP2A1):c.929-38_929-14del | not provided [RCV000827103] | likely benign | 16 | 28888721 | 28888745 | Human | | name |
| 127232533 | CV1103764 | single nucleotide variant | NM_004320.6(ATP2A1):c.198C>G (p.Leu66=) | Brody myopathy [RCV001421346] | likely benign | 16 | 28879562 | 28879562 | Human | 1 | name |
| 127301380 | CV1146064 | single nucleotide variant | NM_004320.6(ATP2A1):c.129T>C (p.Ala43=) | ATP2A1-related disorder [RCV003921045]|Brody myopathy [RCV001498816] | likely benign | 16 | 28879109 | 28879109 | Human | 1 | name , trait , alternate_id |
| 151879342 | CV1359851 | single nucleotide variant | NM_004320.6(ATP2A1):c.201G>A (p.Leu67=) | Brody myopathy [RCV002036652] | likely benign|uncertain significance | 16 | 28879565 | 28879565 | Human | 1 | name |
| 151739584 | CV1454870 | single nucleotide variant | NM_004320.6(ATP2A1):c.261C>T (p.Ala87=) | Brody myopathy [RCV001946968] | likely benign | 16 | 28880956 | 28880956 | Human | 1 | name |
| 152045670 | CV1525755 | single nucleotide variant | NM_004320.6(ATP2A1):c.207A>C (p.Ala69=) | Brody myopathy [RCV002126626] | likely benign | 16 | 28879571 | 28879571 | Human | 1 | name |
| 152121368 | CV1657646 | single nucleotide variant | NM_004320.6(ATP2A1):c.198C>T (p.Leu66=) | Brody myopathy [RCV002216823] | likely benign | 16 | 28879562 | 28879562 | Human | 1 | name |
| 156330480 | CV1969916 | single nucleotide variant | NM_004320.6(ATP2A1):c.177C>T (p.Asp59=) | Brody myopathy [RCV002600765] | likely benign | 16 | 28879541 | 28879541 | Human | 1 | name |
| 405040680 | CV2859376 | single nucleotide variant | NM_004320.6(ATP2A1):c.144C>G (p.Thr48=) | Brody myopathy [RCV003517981] | likely benign | 16 | 28879508 | 28879508 | Human | 1 | name |
| 405061185 | CV3010694 | single nucleotide variant | NM_004320.6(ATP2A1):c.294C>T (p.Leu98=) | Brody myopathy [RCV003632133] | likely benign | 16 | 28880989 | 28880989 | Human | 1 | name |
| 12839023 | CV375048 | single nucleotide variant | NM_004320.6(ATP2A1):c.114C>T (p.Leu38=) | not specified [RCV000428056] | likely benign | 16 | 28878785 | 28878785 | Human | | name |
| 597844812 | CV3752669 | single nucleotide variant | NM_004320.6(ATP2A1):c.159G>C (p.Val53=) | Brody myopathy [RCV005087075] | likely benign | 16 | 28879523 | 28879523 | Human | 1 | name |
| 597899521 | CV3774509 | single nucleotide variant | NM_004320.6(ATP2A1):c.108C>T (p.Tyr36=) | Brody myopathy [RCV005112044] | likely benign | 16 | 28878779 | 28878779 | Human | 1 | name |
| 597970337 | CV3801916 | single nucleotide variant | NM_004320.6(ATP2A1):c.258T>C (p.Thr86=) | Brody myopathy [RCV005141708] | likely benign | 16 | 28880953 | 28880953 | Human | 1 | name |
| 13607726 | CV529892 | single nucleotide variant | NM_004320.6(ATP2A1):c.204C>T (p.Ala68=) | Brody myopathy [RCV000639619] | likely benign | 16 | 28879568 | 28879568 | Human | 1 | name |
| 13607730 | CV530214 | single nucleotide variant | NM_004320.6(ATP2A1):c.195C>A (p.Leu65=) | Brody myopathy [RCV000639616] | likely benign | 16 | 28879559 | 28879559 | Human | 1 | name |
| 13808247 | CV577540 | single nucleotide variant | NM_004320.6(ATP2A1):c.159G>A (p.Val53=) | ATP2A1-related disorder [RCV003965461]|Brody myopathy [RCV001080238]|not provided [RCV000710658] | benign|likely benign|conflicting interpretations of pathogenicity | 16 | 28879523 | 28879523 | Human | 1 | name , trait , alternate_id |
| 15103428 | CV726556 | single nucleotide variant | NM_004320.6(ATP2A1):c.195C>T (p.Leu65=) | Brody myopathy [RCV001503179] | likely benign | 16 | 28879559 | 28879559 | Human | 1 | name |
| 8643455 | CV102438 | single nucleotide variant | NM_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 significance | 16 | 28887457 | 28887457 | Human | 1 | name , trait , alternate_id |
| 8643456 | CV102439 | single nucleotide variant | NM_004320.6(ATP2A1):c.678T>C (p.Thr226=) | Brody myopathy [RCV000371805]|not provided [RCV000991557]|not specified [RCV000082700] | benign | 16 | 28887472 | 28887472 | Human | 1 | name |
| 127239042 | CV1081946 | single nucleotide variant | NM_004320.6(ATP2A1):c.369G>A (p.Glu123=) | ATP2A1-related disorder [RCV003898375]|Brody myopathy [RCV001392608] | likely benign | 16 | 28882495 | 28882495 | Human | 1 | name , trait , alternate_id |
| 127231156 | CV1081949 | single nucleotide variant | NM_004320.6(ATP2A1):c.648C>A (p.Ala216=) | Brody myopathy [RCV001395154] | likely benign | 16 | 28887442 | 28887442 | Human | 1 | name |
| 127283338 | CV1081950 | single nucleotide variant | NM_004320.6(ATP2A1):c.690C>T (p.Thr230=) | Brody myopathy [RCV001411714] | likely benign | 16 | 28887484 | 28887484 | Human | 1 | name |
| 127284052 | CV1081951 | single nucleotide variant | NM_004320.6(ATP2A1):c.933T>C (p.Leu311=) | Brody myopathy [RCV001412204] | likely benign | 16 | 28888791 | 28888791 | Human | 1 | name |
| 127268618 | CV1103765 | single nucleotide variant | NM_004320.6(ATP2A1):c.570C>T (p.His190=) | Brody myopathy [RCV001430020] | likely benign | 16 | 28887214 | 28887214 | Human | 1 | name |
| 127279383 | CV1103766 | single nucleotide variant | NM_004320.6(ATP2A1):c.579C>T (p.Pro193=) | Brody myopathy [RCV001445729] | likely benign | 16 | 28887223 | 28887223 | Human | 1 | name |
| 127309284 | CV1125168 | single nucleotide variant | NM_004320.6(ATP2A1):c.573G>A (p.Thr191=) | Brody myopathy [RCV001463557]|not provided [RCV002276519] | likely benign | 16 | 28887217 | 28887217 | Human | 1 | name |
| 127294134 | CV1125169 | single nucleotide variant | NM_004320.6(ATP2A1):c.672C>T (p.Ala224=) | Brody myopathy [RCV001452174] | likely benign | 16 | 28887466 | 28887466 | Human | 1 | name |
| 127331337 | CV1125170 | single nucleotide variant | NM_004320.6(ATP2A1):c.846C>T (p.Pro282=) | Brody myopathy [RCV001471480] | likely benign | 16 | 28887640 | 28887640 | Human | 1 | name |
| 127322507 | CV1146066 | single nucleotide variant | NM_004320.6(ATP2A1):c.576G>A (p.Glu192=) | Brody myopathy [RCV001505146] | likely benign | 16 | 28887220 | 28887220 | Human | 1 | name |
| 127304585 | CV1146067 | single nucleotide variant | NM_004320.6(ATP2A1):c.591C>T (p.Pro197=) | Brody myopathy [RCV001499668] | likely benign | 16 | 28887235 | 28887235 | Human | 1 | name |
| 127286465 | CV1146068 | single nucleotide variant | NM_004320.6(ATP2A1):c.666C>T (p.Ile222=) | Brody myopathy [RCV001494241] | likely benign | 16 | 28887460 | 28887460 | Human | 1 | name |
| 151355743 | CV1326924 | deletion | NM_004320.6(ATP2A1):c.178del (p.Leu60fs) | Brody myopathy [RCV001822096] | pathogenic | 16 | 28879541 | 28879541 | Human | 1 | name |
| 151821666 | CV1354984 | deletion | NM_004320.6(ATP2A1):c.2610+25_2610+53del | Brody myopathy [RCV001934204] | likely benign|uncertain significance | 16 | 28902683 | 28902711 | Human | 1 | name |
| 151768100 | CV1408078 | single nucleotide variant | NM_004320.6(ATP2A1):c.88A>C (p.Lys30Gln) | Brody myopathy [RCV001914714] | uncertain significance | 16 | 28878759 | 28878759 | Human | 1 | name |
| 151815391 | CV1444661 | single nucleotide variant | NM_004320.6(ATP2A1):c.92G>A (p.Arg31Gln) | Brody myopathy [RCV001933619] | uncertain significance | 16 | 28878763 | 28878763 | Human | 1 | name |
| 151761428 | CV1459678 | single nucleotide variant | NM_004320.6(ATP2A1):c.546C>T (p.Gly182=) | Brody myopathy [RCV002044324] | likely benign|uncertain significance | 16 | 28887190 | 28887190 | Human | 1 | name |
| 151892393 | CV1481003 | single nucleotide variant | NM_004320.6(ATP2A1):c.98T>A (p.Leu33Gln) | Brody myopathy [RCV001944066] | uncertain significance | 16 | 28878769 | 28878769 | Human | 1 | name |
| 152033489 | CV1542701 | single nucleotide variant | NM_004320.6(ATP2A1):c.963G>C (p.Leu321=) | Brody myopathy [RCV002106581] | likely benign | 16 | 28888821 | 28888821 | Human | 1 | name |
| 152167615 | CV1577492 | single nucleotide variant | NM_004320.6(ATP2A1):c.660G>A (p.Leu220=) | Brody myopathy [RCV002204753] | likely benign | 16 | 28887454 | 28887454 | Human | 1 | name |
| 152141205 | CV1625259 | single nucleotide variant | NM_004320.6(ATP2A1):c.588C>T (p.Asp196=) | Brody myopathy [RCV002219394] | likely benign | 16 | 28887232 | 28887232 | Human | 1 | name |
| 152126691 | CV1641960 | single nucleotide variant | NM_004320.6(ATP2A1):c.417G>A (p.Arg139=) | Brody myopathy [RCV002176265] | likely benign | 16 | 28882543 | 28882543 | Human | 1 | name |
| 152039556 | CV1644426 | single nucleotide variant | NM_004320.6(ATP2A1):c.315G>C (p.Gly105=) | Brody myopathy [RCV002165481] | likely benign | 16 | 28881010 | 28881010 | Human | 1 | name |
| 156318233 | CV1876050 | single nucleotide variant | NM_004320.6(ATP2A1):c.801C>T (p.Ile267=) | Brody myopathy [RCV003062891] | likely benign | 16 | 28887595 | 28887595 | Human | 1 | name |
| 155953306 | CV1876478 | single nucleotide variant | NM_004320.6(ATP2A1):c.348C>T (p.Ile116=) | Brody myopathy [RCV003074275] | likely benign | 16 | 28882474 | 28882474 | Human | 1 | name |
| 156337402 | CV1902301 | single nucleotide variant | NM_004320.6(ATP2A1):c.459G>A (p.Val153=) | Brody myopathy [RCV003090149] | likely benign | 16 | 28882585 | 28882585 | Human | 1 | name |
| 156029922 | CV1910610 | single nucleotide variant | NM_004320.6(ATP2A1):c.44A>G (p.Tyr15Cys) | Brody myopathy [RCV002619804] | uncertain significance | 16 | 28878715 | 28878715 | Human | 1 | name |
| 156032929 | CV1921212 | single nucleotide variant | NM_004320.6(ATP2A1):c.819T>G (p.Leu273=) | Brody myopathy [RCV002619932] | likely benign | 16 | 28887613 | 28887613 | Human | 1 | name |
| 156244241 | CV1992691 | single nucleotide variant | NM_004320.6(ATP2A1):c.58G>A (p.Glu20Lys) | Brody myopathy [RCV002627239] | uncertain significance | 16 | 28878729 | 28878729 | Human | 1 | name |
| 156084714 | CV1993046 | single nucleotide variant | NM_004320.6(ATP2A1):c.516G>A (p.Thr172=) | Brody myopathy [RCV002639015] | likely benign | 16 | 28884627 | 28884627 | Human | 1 | name |
| 156007150 | CV2015099 | single nucleotide variant | NM_004320.6(ATP2A1):c.538C>T (p.Leu180=) | Brody myopathy [RCV002690326] | likely benign | 16 | 28884649 | 28884649 | Human | 1 | name |
| 156231770 | CV2048738 | single nucleotide variant | NM_004320.6(ATP2A1):c.711C>T (p.Asp237=) | Brody myopathy [RCV002791023] | likely benign | 16 | 28887505 | 28887505 | Human | 1 | name |
| 156157099 | CV2063369 | single nucleotide variant | NM_004320.6(ATP2A1):c.912G>A (p.Val304=) | Brody myopathy [RCV002851072] | likely benign | 16 | 28887706 | 28887706 | Human | 1 | name |
| 156251368 | CV2082611 | single nucleotide variant | NM_004320.6(ATP2A1):c.81C>G (p.Asp27Glu) | Brody myopathy [RCV002876954]|not provided [RCV004794597] | uncertain significance | 16 | 28878752 | 28878752 | Human | 1 | name |
| 156030021 | CV2105471 | single nucleotide variant | NM_004320.6(ATP2A1):c.894T>C (p.Ile298=) | Brody myopathy [RCV002910023] | likely benign | 16 | 28887688 | 28887688 | Human | 1 | name |
| 156242570 | CV2126049 | single nucleotide variant | NM_004320.6(ATP2A1):c.498C>T (p.Leu166=) | Brody myopathy [RCV002958924] | likely benign | 16 | 28884609 | 28884609 | Human | 1 | name |
| 156266964 | CV2135059 | single nucleotide variant | NM_004320.6(ATP2A1):c.648C>T (p.Ala216=) | Brody myopathy [RCV002988682] | likely benign | 16 | 28887442 | 28887442 | Human | 1 | name |
| 405060747 | CV3022734 | single nucleotide variant | NM_004320.6(ATP2A1):c.735C>T (p.Asp245=) | Brody myopathy [RCV003632232] | likely benign | 16 | 28887529 | 28887529 | Human | 1 | name |
| 405061382 | CV3030967 | single nucleotide variant | NM_004320.6(ATP2A1):c.381G>C (p.Gly127=) | Brody myopathy [RCV003632292] | likely benign | 16 | 28882507 | 28882507 | Human | 1 | name |
| 405068240 | CV3080340 | single nucleotide variant | NM_004320.6(ATP2A1):c.333C>T (p.Asn111=) | ATP2A1-related disorder [RCV003949008]|Brody myopathy [RCV003632924] | likely benign | 16 | 28882459 | 28882459 | Human | 1 | name , trait , alternate_id |
| 405243061 | CV3164712 | single nucleotide variant | NM_004320.6(ATP2A1):c.972T>C (p.Arg324=) | Brody myopathy [RCV003867793] | likely benign | 16 | 28888830 | 28888830 | Human | 1 | name |
| 11614349 | CV324938 | single nucleotide variant | NM_004320.6(ATP2A1):c.450C>T (p.Ile150=) | Brody myopathy [RCV000276427]|not specified [RCV000606852] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 28882576 | 28882576 | Human | 1 | name |
| 11618732 | CV324939 | single nucleotide variant | NM_004320.6(ATP2A1):c.675C>T (p.Thr225=) | Brody myopathy [RCV000317553] | uncertain significance | 16 | 28887469 | 28887469 | Human | 1 | name |
| 597893511 | CV3743972 | single nucleotide variant | NM_004320.6(ATP2A1):c.654G>A (p.Lys218=) | Brody myopathy [RCV005071442] | likely benign | 16 | 28887448 | 28887448 | Human | 1 | name |
| 12843325 | CV375063 | single nucleotide variant | NM_004320.6(ATP2A1):c.658T>C (p.Leu220=) | not specified [RCV000436023] | likely benign | 16 | 28887452 | 28887452 | Human | | name |
| 12841417 | CV375361 | single nucleotide variant | NM_004320.6(ATP2A1):c.870C>T (p.Arg290=) | ATP2A1-related disorder [RCV003970196]|Brody myopathy [RCV000524732]|not provided [RCV001537830]|not specified [RCV000432544] | benign|likely benign | 16 | 28887664 | 28887664 | Human | 1 | name , trait , alternate_id |
| 597883636 | CV3764291 | single nucleotide variant | NM_004320.6(ATP2A1):c.924C>T (p.Pro308=) | Brody myopathy [RCV005109509] | likely benign | 16 | 28887718 | 28887718 | Human | 1 | name |
| 597958243 | CV3849039 | single nucleotide variant | NM_004320.6(ATP2A1):c.804T>C (p.Cys268=) | Brody myopathy [RCV005192040] | likely benign | 16 | 28887598 | 28887598 | Human | 1 | name |
| 598224422 | CV3920305 | single nucleotide variant | NM_004320.6(ATP2A1):c.65C>T (p.Thr22Met) | Inborn genetic diseases [RCV005294102] | uncertain significance | 16 | 28878736 | 28878736 | Human | 1 | name |
| 13475435 | CV465598 | single nucleotide variant | NM_004320.6(ATP2A1):c.840C>T (p.Asn280=) | Brody myopathy [RCV000550976] | likely benign | 16 | 28887634 | 28887634 | Human | 1 | name |
| 13475160 | CV466605 | single nucleotide variant | NM_004320.6(ATP2A1):c.915T>G (p.Ala305=) | Brody myopathy [RCV000549640] | likely benign | 16 | 28887709 | 28887709 | Human | 1 | name |
| 15122814 | CV693834 | single nucleotide variant | NM_004320.6(ATP2A1):c.342C>T (p.Asn114=) | ATP2A1-related disorder [RCV003895348]|Brody myopathy [RCV001467514]|not provided [RCV000874480] | likely benign | 16 | 28882468 | 28882468 | Human | 1 | name , trait , alternate_id |
| 15146099 | CV693835 | single nucleotide variant | NM_004320.6(ATP2A1):c.897C>T (p.Ala299=) | Brody myopathy [RCV001392598] | likely benign | 16 | 28887691 | 28887691 | Human | 1 | name |
| 15109466 | CV714847 | single nucleotide variant | NM_004320.6(ATP2A1):c.765G>A (p.Glu255=) | Brody myopathy [RCV000960705] | likely benign|conflicting interpretations of pathogenicity | 16 | 28887559 | 28887559 | Human | 1 | name |
| 15146147 | CV770836 | single nucleotide variant | NM_004320.6(ATP2A1):c.405G>A (p.Lys135=) | Brody myopathy [RCV001414042] | likely benign | 16 | 28882531 | 28882531 | Human | 1 | name |
| 15188668 | CV770837 | single nucleotide variant | NM_004320.6(ATP2A1):c.435C>T (p.Ile145=) | Brody myopathy [RCV001480958] | likely benign | 16 | 28882561 | 28882561 | Human | 1 | name |
| 15197792 | CV770838 | single nucleotide variant | NM_004320.6(ATP2A1):c.513C>A (p.Thr171=) | Brody myopathy [RCV001409544] | likely benign | 16 | 28884624 | 28884624 | Human | 1 | name |
| 28881272 | CV875074 | single nucleotide variant | NM_004320.6(ATP2A1):c.41C>A (p.Ala14Asp) | Brody myopathy [RCV001117783] | uncertain significance | 16 | 28878712 | 28878712 | Human | 1 | name |
| 38486046 | CV937400 | single nucleotide variant | NM_004320.6(ATP2A1):c.55A>G (p.Ser19Gly) | Brody myopathy [RCV001208726] | uncertain significance | 16 | 28878726 | 28878726 | Human | 1 | name |
| 8643451 | CV102434 | single nucleotide variant | NM_004320.6(ATP2A1):c.1614G>A (p.Thr538=) | Brody myopathy [RCV000344136]|not provided [RCV004714428]|not specified [RCV000082695] | benign|likely benign|conflicting interpretations of pathogenicity | 16 | 28898301 | 28898301 | Human | 1 | name |
| 126726717 | CV1032570 | single nucleotide variant | NM_004320.6(ATP2A1):c.280A>G (p.Ile94Val) | Brody myopathy [RCV001348538] | uncertain significance | 16 | 28880975 | 28880975 | Human | 1 | name |
| 126920280 | CV1049560 | single nucleotide variant | NM_004320.6(ATP2A1):c.1347G>A (p.Val449=) | Brody myopathy [RCV001362782] | likely benign|uncertain significance | 16 | 28894881 | 28894881 | Human | 1 | name |
| 127258014 | CV1081952 | single nucleotide variant | NM_004320.6(ATP2A1):c.1071C>T (p.Thr357=) | Brody myopathy [RCV001401610] | likely benign | 16 | 28888929 | 28888929 | Human | 1 | name |
| 127278333 | CV1081953 | single nucleotide variant | NM_004320.6(ATP2A1):c.1539T>C (p.Phe513=) | Brody myopathy [RCV001408421] | likely benign | 16 | 28898119 | 28898119 | Human | 1 | name |
| 127251579 | CV1081954 | single nucleotide variant | NM_004320.6(ATP2A1):c.2403G>A (p.Gly801=) | Brody myopathy [RCV001400134] | likely benign | 16 | 28902265 | 28902265 | Human | 1 | name |
| 127247411 | CV1103769 | single nucleotide variant | NM_004320.6(ATP2A1):c.1614G>C (p.Thr538=) | Brody myopathy [RCV001435621] | likely benign | 16 | 28898301 | 28898301 | Human | 1 | name |
| 127261320 | CV1103770 | single nucleotide variant | NM_004320.6(ATP2A1):c.1698C>A (p.Thr566=) | Brody myopathy [RCV001438757] | likely benign | 16 | 28898385 | 28898385 | Human | 1 | name |
| 127283538 | CV1103771 | single nucleotide variant | NM_004320.6(ATP2A1):c.2475G>A (p.Lys825=) | Brody myopathy [RCV001448591] | likely benign | 16 | 28902337 | 28902337 | Human | 1 | name |
| 127258762 | CV1103772 | single nucleotide variant | NM_004320.6(ATP2A1):c.2544C>A (p.Thr848=) | Brody myopathy [RCV001427431] | likely benign | 16 | 28902599 | 28902599 | Human | 1 | name |
| 127260387 | CV1103773 | single nucleotide variant | NM_004320.6(ATP2A1):c.2574C>T (p.Tyr858=) | Brody myopathy [RCV001438564] | likely benign | 16 | 28902629 | 28902629 | Human | 1 | name |
| 127309381 | CV1125171 | single nucleotide variant | NM_004320.6(ATP2A1):c.1311C>T (p.Val437=) | Brody myopathy [RCV001463597] | likely benign | 16 | 28894845 | 28894845 | Human | 1 | name |
| 127298338 | CV1125172 | single nucleotide variant | NM_004320.6(ATP2A1):c.1386C>G (p.Leu462=) | Brody myopathy [RCV001477883] | likely benign | 16 | 28894920 | 28894920 | Human | 1 | name |
| 127331336 | CV1125173 | single nucleotide variant | NM_004320.6(ATP2A1):c.2274G>A (p.Lys758=) | Brody myopathy [RCV001471478] | likely benign | 16 | 28902036 | 28902036 | Human | 1 | name |
| 127317301 | CV1125174 | single nucleotide variant | NM_004320.6(ATP2A1):c.2700C>T (p.Ala900=) | Brody myopathy [RCV001465822] | likely benign | 16 | 28902867 | 28902867 | Human | 1 | name |
| 127332666 | CV1125175 | single nucleotide variant | NM_004320.6(ATP2A1):c.2751C>T (p.Ser917=) | Brody myopathy [RCV001472378] | likely benign | 16 | 28903036 | 28903036 | Human | 1 | name |
| 127286508 | CV1146070 | single nucleotide variant | NM_004320.6(ATP2A1):c.1620G>A (p.Pro540=) | Brody myopathy [RCV001494308] | likely benign | 16 | 28898307 | 28898307 | Human | 1 | name |
| 127299628 | CV1146071 | single nucleotide variant | NM_004320.6(ATP2A1):c.1713G>A (p.Pro571=) | Brody myopathy [RCV001498356] | likely benign | 16 | 28898400 | 28898400 | Human | 1 | name |
| 127319072 | CV1146072 | single nucleotide variant | NM_004320.6(ATP2A1):c.2649T>C (p.Phe883=) | Brody myopathy [RCV001483722] | likely benign | 16 | 28902816 | 28902816 | Human | 1 | name |
| 127312988 | CV1146073 | single nucleotide variant | NM_004320.6(ATP2A1):c.2682C>T (p.Pro894=) | Brody myopathy [RCV001481841] | likely benign | 16 | 28902849 | 28902849 | Human | 1 | name |
| 127296183 | CV1146074 | single nucleotide variant | NM_004320.6(ATP2A1):c.2764C>T (p.Leu922=) | Brody myopathy [RCV001497417] | likely benign | 16 | 28903049 | 28903049 | Human | 1 | name |
| 150406688 | CV1195056 | insertion | NM_004320.6(ATP2A1):c.2525-30_2525-29insA | not provided [RCV001572095] | likely benign | 16 | 28902550 | 28902551 | Human | | name |
| 150547098 | CV1314049 | deletion | NM_004320.6(ATP2A1):c.592del (p.Arg198fs) | Brody myopathy [RCV001785142] | pathogenic | 16 | 28887232 | 28887232 | Human | 1 | name |
| 150547178 | CV1314087 | single nucleotide variant | NM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter) | Brody myopathy [RCV001785180] | pathogenic | 16 | 28879514 | 28879514 | Human | 1 | name |
| 151355744 | CV1326925 | single nucleotide variant | NM_004320.6(ATP2A1):c.200T>G (p.Leu67Arg) | Brody myopathy [RCV001822097] | pathogenic | 16 | 28879564 | 28879564 | Human | 1 | name |
| 151750954 | CV1377755 | single nucleotide variant | NM_004320.6(ATP2A1):c.139A>G (p.Lys47Glu) | Brody myopathy [RCV001948132] | uncertain significance | 16 | 28879503 | 28879503 | Human | 1 | name |
| 151743088 | CV1385631 | single nucleotide variant | NM_004320.6(ATP2A1):c.1977C>T (p.Asp659=) | Brody myopathy [RCV002042429] | likely benign | 16 | 28900793 | 28900793 | Human | 1 | name |
| 151800880 | CV1404046 | single nucleotide variant | NM_004320.6(ATP2A1):c.1767G>A (p.Thr589=) | Brody myopathy [RCV001973897] | uncertain significance | 16 | 28900583 | 28900583 | Human | 1 | name |
| 151864084 | CV1416423 | single nucleotide variant | NM_004320.6(ATP2A1):c.2424C>T (p.Gly808=) | Brody myopathy [RCV001997514] | likely benign | 16 | 28902286 | 28902286 | Human | 1 | name |
| 151774953 | CV1424210 | single nucleotide variant | NM_004320.6(ATP2A1):c.118G>A (p.Glu40Lys) | Brody myopathy [RCV002025720] | uncertain significance | 16 | 28878789 | 28878789 | Human | 1 | name |
| 151887282 | CV1426712 | single nucleotide variant | NM_004320.6(ATP2A1):c.2367G>A (p.Pro789=) | Brody myopathy [RCV002038154] | likely benign|uncertain significance | 16 | 28902229 | 28902229 | Human | 1 | name |
| 151826132 | CV1447168 | single nucleotide variant | NM_004320.6(ATP2A1):c.116A>G (p.Asn39Ser) | Brody myopathy [RCV001870078] | uncertain significance | 16 | 28878787 | 28878787 | Human | 1 | name |
| 152045660 | CV1525754 | single nucleotide variant | NM_004320.6(ATP2A1):c.1237C>T (p.Leu413=) | Brody myopathy [RCV002126625] | likely benign | 16 | 28894557 | 28894557 | Human | 1 | name |
| 152169893 | CV1538762 | single nucleotide variant | NM_004320.6(ATP2A1):c.2853C>T (p.Asp951=) | Brody myopathy [RCV002182961] | likely benign | 16 | 28903138 | 28903138 | Human | 1 | name |
| 152119349 | CV1558475 | single nucleotide variant | NM_004320.6(ATP2A1):c.1191G>A (p.Lys397=) | Brody myopathy [RCV002135506] | likely benign | 16 | 28894511 | 28894511 | Human | 1 | name |
| 152094430 | CV1565772 | single nucleotide variant | NM_004320.6(ATP2A1):c.2748G>A (p.Leu916=) | Brody myopathy [RCV002151012] | likely benign | 16 | 28903033 | 28903033 | Human | 1 | name |
| 152173794 | CV1568532 | single nucleotide variant | NM_004320.6(ATP2A1):c.1263T>C (p.Asn421=) | Brody myopathy [RCV002184295] | likely benign | 16 | 28894583 | 28894583 | Human | 1 | name |
| 152068679 | CV1571253 | single nucleotide variant | NM_004320.6(ATP2A1):c.1707C>G (p.Thr569=) | Brody myopathy [RCV002129312] | likely benign | 16 | 28898394 | 28898394 | Human | 1 | name |
| 152130135 | CV1582108 | single nucleotide variant | NM_004320.6(ATP2A1):c.2028C>T (p.Phe676=) | Brody myopathy [RCV002099371] | likely benign | 16 | 28900844 | 28900844 | Human | 1 | name |
| 152133598 | CV1590217 | single nucleotide variant | NM_004320.6(ATP2A1):c.1641G>A (p.Ala547=) | Brody myopathy [RCV002218410] | likely benign | 16 | 28898328 | 28898328 | Human | 1 | name |
| 152119088 | CV1600834 | single nucleotide variant | NM_004320.6(ATP2A1):c.2640C>T (p.Asn880=) | Brody myopathy [RCV002154024] | likely benign | 16 | 28902807 | 28902807 | Human | 1 | name |
| 152050903 | CV1606996 | single nucleotide variant | NM_004320.6(ATP2A1):c.1284C>T (p.Asn428=) | Brody myopathy [RCV002108956] | likely benign | 16 | 28894604 | 28894604 | Human | 1 | name |
| 152051232 | CV1607045 | single nucleotide variant | NM_004320.6(ATP2A1):c.2868C>T (p.Ile956=) | Brody myopathy [RCV002108995] | likely benign | 16 | 28903328 | 28903328 | Human | 1 | name |
| 152048582 | CV1615005 | single nucleotide variant | NM_004320.6(ATP2A1):c.1899T>C (p.Ile633=) | Brody myopathy [RCV002088851] | likely benign | 16 | 28900715 | 28900715 | Human | 1 | name |
| 152080712 | CV1619150 | single nucleotide variant | NM_004320.6(ATP2A1):c.2340C>T (p.Ala780=) | Brody myopathy [RCV002092802] | likely benign | 16 | 28902202 | 28902202 | Human | 1 | name |
| 152074690 | CV1635291 | single nucleotide variant | NM_004320.6(ATP2A1):c.2826C>G (p.Ser942=) | Brody myopathy [RCV002092065] | likely benign | 16 | 28903111 | 28903111 | Human | 1 | name |
| 152135073 | CV1638498 | single nucleotide variant | NM_004320.6(ATP2A1):c.1410C>G (p.Ala470=) | Brody myopathy [RCV002083394] | likely benign | 16 | 28894944 | 28894944 | Human | 1 | name |
| 152066493 | CV1647025 | single nucleotide variant | NM_004320.6(ATP2A1):c.2607G>A (p.Gln869=) | Brody myopathy [RCV002129047] | likely benign | 16 | 28902662 | 28902662 | Human | 1 | name |
| 152088802 | CV1655756 | single nucleotide variant | NM_004320.6(ATP2A1):c.2835C>T (p.Phe945=) | Brody myopathy [RCV002194020] | likely benign | 16 | 28903120 | 28903120 | Human | 1 | name |
| 156410956 | CV1882888 | single nucleotide variant | NM_004320.6(ATP2A1):c.1338C>T (p.Thr446=) | Brody myopathy [RCV003072278] | likely benign | 16 | 28894872 | 28894872 | Human | 1 | name |
| 156306100 | CV1930341 | single nucleotide variant | NM_004320.6(ATP2A1):c.2487C>T (p.Ile829=) | Brody myopathy [RCV002629502] | likely benign | 16 | 28902349 | 28902349 | Human | 1 | name |
| 156442354 | CV1938580 | single nucleotide variant | NM_004320.6(ATP2A1):c.242G>A (p.Gly81Asp) | Brody myopathy [RCV003112695] | uncertain significance | 16 | 28880937 | 28880937 | Human | 1 | name |
| 155910799 | CV1980141 | single nucleotide variant | NM_004320.6(ATP2A1):c.2238T>C (p.Ala746=) | Brody myopathy [RCV002613975] | likely benign | 16 | 28902000 | 28902000 | Human | 1 | name |
| 156393720 | CV1983463 | single nucleotide variant | NM_004320.6(ATP2A1):c.1675C>T (p.Leu559=) | Brody myopathy [RCV002604922] | likely benign | 16 | 28898362 | 28898362 | Human | 1 | name |
| 156177367 | CV1996753 | single nucleotide variant | NM_004320.6(ATP2A1):c.209G>A (p.Cys70Tyr) | Brody myopathy [RCV002642917] | uncertain significance | 16 | 28879573 | 28879573 | Human | 1 | name |
| 156267644 | CV2026702 | single nucleotide variant | NM_004320.6(ATP2A1):c.1848C>T (p.Asp616=) | Brody myopathy [RCV002746529] | likely benign | 16 | 28900664 | 28900664 | Human | 1 | name |
| 156126318 | CV2031220 | single nucleotide variant | NM_004320.6(ATP2A1):c.2625G>A (p.Gln875=) | Brody myopathy [RCV002740395] | likely benign | 16 | 28902792 | 28902792 | Human | 1 | name |
| 155991031 | CV2049563 | single nucleotide variant | NM_004320.6(ATP2A1):c.253A>G (p.Ile85Val) | Brody myopathy [RCV002819206] | uncertain significance | 16 | 28880948 | 28880948 | Human | 1 | name |
| 156261255 | CV2057176 | single nucleotide variant | NM_004320.6(ATP2A1):c.2832C>T (p.His944=) | Brody myopathy [RCV002792025] | likely benign | 16 | 28903117 | 28903117 | Human | 1 | name |
| 155987398 | CV2091342 | single nucleotide variant | NM_004320.6(ATP2A1):c.1803C>T (p.Asp601=) | Brody myopathy [RCV002907991] | likely benign | 16 | 28900619 | 28900619 | Human | 1 | name |
| 156066856 | CV2092892 | single nucleotide variant | NM_004320.6(ATP2A1):c.2292C>T (p.Leu764=) | Brody myopathy [RCV002886686] | likely benign | 16 | 28902054 | 28902054 | Human | 1 | name |
| 156332205 | CV2112775 | single nucleotide variant | NM_004320.6(ATP2A1):c.2229C>T (p.Ile743=) | Brody myopathy [RCV002938432] | likely benign|uncertain significance | 16 | 28901991 | 28901991 | Human | 1 | name |
| 156134217 | CV2118899 | single nucleotide variant | NM_004320.6(ATP2A1):c.2377C>T (p.Leu793=) | Brody myopathy [RCV002953990] | likely benign | 16 | 28902239 | 28902239 | Human | 1 | name |
| 156134257 | CV2118900 | single nucleotide variant | NM_004320.6(ATP2A1):c.2397C>T (p.Thr799=) | Brody myopathy [RCV002953991] | likely benign | 16 | 28902259 | 28902259 | Human | 1 | name |
| 156034373 | CV2123070 | single nucleotide variant | NM_004320.6(ATP2A1):c.2580G>A (p.Glu860=) | Brody myopathy [RCV002949367] | likely benign | 16 | 28902635 | 28902635 | Human | 1 | name |
| 156355622 | CV2129879 | single nucleotide variant | NM_004320.6(ATP2A1):c.1050C>T (p.Ser350=) | Brody myopathy [RCV002966634] | likely benign | 16 | 28888908 | 28888908 | Human | 1 | name |
| 156024937 | CV2139113 | single nucleotide variant | NM_004320.6(ATP2A1):c.2544C>T (p.Thr848=) | Brody myopathy [RCV002998868] | likely benign | 16 | 28902599 | 28902599 | Human | 1 | name |
| 156362163 | CV2180500 | single nucleotide variant | NM_004320.6(ATP2A1):c.241G>A (p.Gly81Ser) | Brody myopathy [RCV003049101] | uncertain significance | 16 | 28880936 | 28880936 | Human | 1 | name |
| 156126588 | CV2185684 | single nucleotide variant | NM_004320.6(ATP2A1):c.1107T>C (p.Ile369=) | Brody myopathy [RCV003055674] | likely benign | 16 | 28894166 | 28894166 | Human | 1 | name |
| 156356635 | CV2188916 | single nucleotide variant | NM_004320.6(ATP2A1):c.1914A>G (p.Arg638=) | Brody myopathy [RCV003048734] | likely benign | 16 | 28900730 | 28900730 | Human | 1 | name |
| 156374121 | CV2190792 | single nucleotide variant | NM_004320.6(ATP2A1):c.2967G>C (p.Arg989=) | Brody myopathy [RCV003049952] | likely benign | 16 | 28903427 | 28903427 | Human | 1 | name |
| 243064812 | CV2411982 | single nucleotide variant | NM_004320.6(ATP2A1):c.1710C>A (p.Pro570=) | Brody myopathy [RCV003143640] | uncertain significance | 16 | 28898397 | 28898397 | Human | 1 | name |
| 404977223 | CV2849678 | single nucleotide variant | NM_004320.6(ATP2A1):c.185T>G (p.Val62Gly) | Brody myopathy [RCV003486017] | uncertain significance | 16 | 28879549 | 28879549 | Human | 1 | name |
| 405038849 | CV2926901 | single nucleotide variant | NM_004320.6(ATP2A1):c.1587A>T (p.Arg529=) | Brody myopathy [RCV003517767] | likely benign | 16 | 28898274 | 28898274 | Human | 1 | name |
| 405051971 | CV2946989 | single nucleotide variant | NM_004320.6(ATP2A1):c.1686G>A (p.Leu562=) | Brody myopathy [RCV003631368] | likely benign | 16 | 28898373 | 28898373 | Human | 1 | name |
| 405051983 | CV2946990 | single nucleotide variant | NM_004320.6(ATP2A1):c.1695C>A (p.Ala565=) | Brody myopathy [RCV003631369] | likely benign | 16 | 28898382 | 28898382 | Human | 1 | name |
| 405057250 | CV3002132 | single nucleotide variant | NM_004320.6(ATP2A1):c.1470C>T (p.Asp490=) | Brody myopathy [RCV003631907] | likely benign | 16 | 28898050 | 28898050 | Human | 1 | name |
| 405062779 | CV3043192 | single nucleotide variant | NM_004320.6(ATP2A1):c.1699C>A (p.Arg567=) | Brody myopathy [RCV003632434] | likely benign | 16 | 28898386 | 28898386 | Human | 1 | name |
| 405064023 | CV3049131 | single nucleotide variant | NM_004320.6(ATP2A1):c.1050C>G (p.Ser350=) | Brody myopathy [RCV003632562] | likely benign | 16 | 28888908 | 28888908 | Human | 1 | name |
| 405068719 | CV3077786 | single nucleotide variant | NM_004320.6(ATP2A1):c.2820C>T (p.Ser940=) | Brody myopathy [RCV003632966] | likely benign | 16 | 28903105 | 28903105 | Human | 1 | name |
| 404998196 | CV3123938 | single nucleotide variant | NM_004320.6(ATP2A1):c.2490T>C (p.Ser830=) | Brody myopathy [RCV003827845] | likely benign | 16 | 28902352 | 28902352 | Human | 1 | name |
| 405010509 | CV3128028 | single nucleotide variant | NM_004320.6(ATP2A1):c.2073G>A (p.Leu691=) | Brody myopathy [RCV003828908] | likely benign | 16 | 28900889 | 28900889 | Human | 1 | name |
| 405252233 | CV3177678 | single nucleotide variant | NM_004320.6(ATP2A1):c.1344G>A (p.Leu448=) | Brody myopathy [RCV003870636] | likely benign | 16 | 28894878 | 28894878 | Human | 1 | name |
| 402474290 | CV3182725 | single nucleotide variant | NM_004320.6(ATP2A1):c.2940C>T (p.Leu980=) | Brody myopathy [RCV003874968] | likely benign | 16 | 28903400 | 28903400 | Human | 1 | name |
| 11625979 | CV324942 | single nucleotide variant | NM_004320.6(ATP2A1):c.1809G>A (p.Pro603=) | Brody myopathy [RCV000405128]|not provided [RCV002263009]|not specified [RCV000438887] | benign|likely benign|conflicting interpretations of pathogenicity | 16 | 28900625 | 28900625 | Human | 1 | name |
| 11618493 | CV324944 | single nucleotide variant | NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=) | Brody myopathy [RCV000314694] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 28900751 | 28900751 | Human | 1 | name |
| 11625795 | CV324945 | single nucleotide variant | NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=) | Brody myopathy [RCV000403220] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 28900898 | 28900898 | Human | 1 | name |
| 8566395 | CV32844 | deletion | NM_004320.6(ATP2A1):c.440del (p.Pro147fs) | Brody myopathy [RCV000019383] | pathogenic | 16 | 28882564 | 28882564 | Human | 1 | name |
| 11618189 | CV334597 | single nucleotide variant | NM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln) | Brody myopathy [RCV000311761]|Inborn genetic diseases [RCV002522840] | uncertain significance | 16 | 28879552 | 28879552 | Human | 2 | name |
| 11654515 | CV334609 | single nucleotide variant | NM_004320.6(ATP2A1):c.1176G>A (p.Glu392=) | Brody myopathy [RCV000318348] | uncertain significance | 16 | 28894235 | 28894235 | Human | 1 | name |
| 11615721 | CV334610 | single nucleotide variant | NM_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 significance | 16 | 28898247 | 28898247 | Human | 1 | name , trait , alternate_id |
| 11624995 | CV334612 | single nucleotide variant | NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=) | Brody myopathy [RCV000393667]|not provided [RCV000827239] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 28898409 | 28898409 | Human | 1 | name |
| 11660684 | CV334617 | single nucleotide variant | NM_004320.6(ATP2A1):c.1941G>A (p.Glu647=) | Brody myopathy [RCV000369513] | uncertain significance | 16 | 28900757 | 28900757 | Human | 1 | name |
| 11613124 | CV334622 | single nucleotide variant | NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=) | Brody myopathy [RCV000265762]|not provided [RCV004791408] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 28902072 | 28902072 | Human | 1 | name |
| 11654795 | CV334627 | single nucleotide variant | NM_004320.6(ATP2A1):c.2343G>A (p.Leu781=) | Brody myopathy [RCV000320864]|not provided [RCV000489693] | uncertain significance | 16 | 28902205 | 28902205 | Human | 1 | name |
| 11623885 | CV341118 | single nucleotide variant | NM_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 significance | 16 | 28894863 | 28894863 | Human | 1 | name , trait , alternate_id |
| 597628110 | CV3613185 | single nucleotide variant | NM_004320.6(ATP2A1):c.165G>C (p.Glu55Asp) | Inborn genetic diseases [RCV004966732] | uncertain significance | 16 | 28879529 | 28879529 | Human | 1 | name |
| 597850948 | CV3746959 | single nucleotide variant | NM_004320.6(ATP2A1):c.1671C>T (p.Asp557=) | Brody myopathy [RCV005060587] | likely benign | 16 | 28898358 | 28898358 | Human | 1 | name |
| 12842051 | CV375056 | single nucleotide variant | NM_004320.6(ATP2A1):c.272C>T (p.Pro91Leu) | Brody myopathy [RCV001117784]|not provided [RCV000433709] | uncertain significance | 16 | 28880967 | 28880967 | Human | 1 | name |
| 12838137 | CV375364 | single nucleotide variant | NM_004320.6(ATP2A1):c.1851C>T (p.Ala617=) | Brody myopathy [RCV001494240]|not provided [RCV000527913] | likely benign | 16 | 28900667 | 28900667 | Human | 1 | name |
| 12845341 | CV375368 | single nucleotide variant | NM_004320.6(ATP2A1):c.1974C>T (p.Phe658=) | Brody myopathy [RCV000541745]|not provided [RCV001704451]|not specified [RCV000439639] | benign|likely benign | 16 | 28900790 | 28900790 | Human | 1 | name |
| 12845910 | CV375370 | single nucleotide variant | NM_004320.6(ATP2A1):c.2862G>A (p.Pro954=) | not provided [RCV000440661] | uncertain significance | 16 | 28903147 | 28903147 | Human | | name |
| 12848144 | CV377487 | single nucleotide variant | NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly) | Brody myopathy [RCV003144259]|not provided [RCV000444756] | uncertain significance | 16 | 28880940 | 28880940 | Human | 1 | name |
| 12837082 | CV377489 | single nucleotide variant | NM_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 pathogenicity | 16 | 28894226 | 28894226 | Human | 2 | name , trait , alternate_id |
| 12837082 | CV377489 | single nucleotide variant | NM_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 pathogenicity | 16 | 28894226 | 28894227 | Human | 2 | name , trait , alternate_id |
| 12841524 | CV377494 | single nucleotide variant | NM_004320.6(ATP2A1):c.2634G>A (p.Glu878=) | Brody myopathy [RCV001435931]|not specified [RCV000432734] | likely benign | 16 | 28902801 | 28902801 | Human | 1 | name |
| 597901506 | CV3779112 | deletion | NM_004320.6(ATP2A1):c.787del (p.Val263fs) | Brody myopathy [RCV005127189] | pathogenic | 16 | 28887580 | 28887580 | Human | 1 | name |
| 597889701 | CV3788132 | single nucleotide variant | NM_004320.6(ATP2A1):c.1713G>T (p.Pro571=) | Brody myopathy [RCV005125490] | likely benign | 16 | 28898400 | 28898400 | Human | 1 | name |
| 597975762 | CV3799342 | single nucleotide variant | NM_004320.6(ATP2A1):c.2304C>T (p.Asn768=) | Brody myopathy [RCV005144738] | likely benign | 16 | 28902066 | 28902066 | Human | 1 | name |
| 597885777 | CV3800022 | single nucleotide variant | NM_004320.6(ATP2A1):c.2211C>T (p.Asp737=) | Brody myopathy [RCV005150501] | likely benign | 16 | 28901973 | 28901973 | Human | 1 | name |
| 597905822 | CV3803892 | single nucleotide variant | NM_004320.6(ATP2A1):c.238G>A (p.Glu80Lys) | Brody myopathy [RCV005153437] | uncertain significance | 16 | 28880933 | 28880933 | Human | 1 | name |
| 597963827 | CV3830306 | single nucleotide variant | NM_004320.6(ATP2A1):c.2800C>T (p.Leu934=) | Brody myopathy [RCV005164446] | likely benign | 16 | 28903085 | 28903085 | Human | 1 | name |
| 597901075 | CV3835323 | single nucleotide variant | NM_004320.6(ATP2A1):c.1407C>T (p.Asn469=) | Brody myopathy [RCV005181045] | likely benign | 16 | 28894941 | 28894941 | Human | 1 | name |
| 597868918 | CV3838935 | single nucleotide variant | NM_004320.6(ATP2A1):c.1851C>A (p.Ala617=) | Brody myopathy [RCV005176231] | likely benign | 16 | 28900667 | 28900667 | Human | 1 | name |
| 597960773 | CV3840318 | single nucleotide variant | NM_004320.6(ATP2A1):c.1422G>C (p.Val474=) | Brody myopathy [RCV005192802] | likely benign | 16 | 28898002 | 28898002 | Human | 1 | name |
| 597961916 | CV3840876 | single nucleotide variant | NM_004320.6(ATP2A1):c.1947C>T (p.Ala649=) | Brody myopathy [RCV005193169] | likely benign | 16 | 28900763 | 28900763 | Human | 1 | name |
| 597918294 | CV3842424 | single nucleotide variant | NM_004320.6(ATP2A1):c.1257C>T (p.Leu419=) | Brody myopathy [RCV005183909] | likely benign | 16 | 28894577 | 28894577 | Human | 1 | name |
| 597904108 | CV3846103 | single nucleotide variant | NM_004320.6(ATP2A1):c.1824G>A (p.Thr608=) | Brody myopathy [RCV005181725] | likely benign | 16 | 28900640 | 28900640 | Human | 1 | name |
| 13469949 | CV441893 | single nucleotide variant | NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) | ATP2A1-related disorder [RCV003900067]|Brody myopathy [RCV000779180]|not provided [RCV000516624] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 16 | 28878771 | 28878771 | Human | 1 | name , trait , alternate_id |
| 13473876 | CV465599 | single nucleotide variant | NM_004320.6(ATP2A1):c.1224C>T (p.Asp408=) | Brody myopathy [RCV000541172] | likely benign | 16 | 28894544 | 28894544 | Human | 1 | name |
| 13475470 | CV466321 | single nucleotide variant | NM_004320.6(ATP2A1):c.109G>A (p.Gly37Ser) | Brody myopathy [RCV000551373]|Inborn genetic diseases [RCV004023975]|not provided [RCV002298652] | uncertain significance | 16 | 28878780 | 28878780 | Human | 2 | name |
| 13474129 | CV466328 | single nucleotide variant | NM_004320.6(ATP2A1):c.1419G>A (p.Ser473=) | Brody myopathy [RCV000542880]|not provided [RCV004791545] | uncertain significance | 16 | 28894953 | 28894953 | Human | 1 | name |
| 13476131 | CV466352 | single nucleotide variant | NM_004320.6(ATP2A1):c.2121C>T (p.Asp707=) | Brody myopathy [RCV000555678]|not provided [RCV003419951] | likely benign | 16 | 28901883 | 28901883 | Human | 1 | name |
| 13504106 | CV466607 | single nucleotide variant | NM_004320.6(ATP2A1):c.1218G>A (p.Gln406=) | Brody myopathy [RCV000555119]|not provided [RCV001697023] | likely benign | 16 | 28894538 | 28894538 | Human | 1 | name |
| 13473837 | CV466622 | single nucleotide variant | NM_004320.6(ATP2A1):c.2112C>T (p.Gly704=) | Brody myopathy [RCV001456377] | likely benign | 16 | 28901874 | 28901874 | Human | 1 | name |
| 13527078 | CV505354 | single nucleotide variant | NM_004320.6(ATP2A1):c.2361G>T (p.Leu787=) | not specified [RCV000604983] | likely benign | 16 | 28902223 | 28902223 | Human | | name |
| 13526536 | CV505557 | single nucleotide variant | NM_004320.6(ATP2A1):c.1800G>A (p.Leu600=) | ATP2A1-related disorder [RCV003945513]|Brody myopathy [RCV001501344]|not specified [RCV000604257] | likely benign | 16 | 28900616 | 28900616 | Human | 1 | name , trait , alternate_id |
| 13539887 | CV505775 | single nucleotide variant | NM_004320.6(ATP2A1):c.1323C>T (p.Thr441=) | Brody myopathy [RCV002066617]|not specified [RCV000613892] | likely benign | 16 | 28894857 | 28894857 | Human | 1 | name |
| 13533110 | CV505783 | single nucleotide variant | NM_004320.6(ATP2A1):c.1389G>A (p.Ser463=) | Brody myopathy [RCV003517248]|not specified [RCV000606998] | likely benign | 16 | 28894923 | 28894923 | Human | 1 | name |
| 13539764 | CV505787 | single nucleotide variant | NM_004320.6(ATP2A1):c.1506A>G (p.Lys502=) | not specified [RCV000613723] | likely benign | 16 | 28898086 | 28898086 | Human | | name |
| 13526162 | CV505789 | single nucleotide variant | NM_004320.6(ATP2A1):c.2706C>T (p.Ser902=) | Brody myopathy [RCV001441233]|not specified [RCV000603757] | likely benign | 16 | 28902873 | 28902873 | Human | 1 | name |
| 13538472 | CV505793 | single nucleotide variant | NM_004320.6(ATP2A1):c.2772G>A (p.Arg924=) | Brody myopathy [RCV002531519]|not specified [RCV000611883] | likely benign | 16 | 28903057 | 28903057 | Human | 1 | name |
| 13607731 | CV529894 | single nucleotide variant | NM_004320.6(ATP2A1):c.1158C>T (p.Gly386=) | Brody myopathy [RCV000639615] | likely benign | 16 | 28894217 | 28894217 | Human | 1 | name |
| 13607728 | CV529896 | single nucleotide variant | NM_004320.6(ATP2A1):c.2046G>A (p.Ser682=) | ATP2A1-related disorder [RCV003953137]|Brody myopathy [RCV000639617] | likely benign | 16 | 28900862 | 28900862 | Human | 1 | name , trait , alternate_id |
| 13607732 | CV529981 | single nucleotide variant | NM_004320.6(ATP2A1):c.2943C>T (p.Asp981=) | ATP2A1-related disorder [RCV003892448]|Brody myopathy [RCV000639614] | likely benign | 16 | 28903403 | 28903403 | Human | 1 | name , trait , alternate_id |
| 13607666 | CV530408 | single nucleotide variant | NM_004320.6(ATP2A1):c.2535T>C (p.Gly845=) | Brody myopathy [RCV000639609] | likely benign | 16 | 28902590 | 28902590 | Human | 1 | name |
| 13705862 | CV536902 | single nucleotide variant | NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=) | Brody myopathy [RCV001816658]|not provided [RCV000658413] | pathogenic|uncertain significance | 16 | 28894607 | 28894607 | Human | 1 | name |
| 14716230 | CV644543 | single nucleotide variant | NM_004320.6(ATP2A1):c.208T>C (p.Cys70Arg) | Brody myopathy [RCV000803096] | uncertain significance | 16 | 28879572 | 28879572 | Human | 1 | name |
| 14715411 | CV644544 | single nucleotide variant | NM_004320.6(ATP2A1):c.251C>T (p.Thr84Ile) | Brody myopathy [RCV000800496] | uncertain significance | 16 | 28880946 | 28880946 | Human | 1 | name |
| 14714412 | CV644545 | single nucleotide variant | NM_004320.6(ATP2A1):c.295A>C (p.Ile99Leu) | Brody myopathy [RCV000796561]|Inborn genetic diseases [RCV002534603] | uncertain significance | 16 | 28880990 | 28880990 | Human | 2 | name |
| 14701481 | CV644546 | single nucleotide variant | NM_004320.6(ATP2A1):c.296T>C (p.Ile99Thr) | Brody myopathy [RCV000816752] | uncertain significance | 16 | 28880991 | 28880991 | Human | 1 | name |
| 14715404 | CV644560 | single nucleotide variant | NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=) | Brody myopathy [RCV000800472] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 28900778 | 28900778 | Human | 1 | name |
| 14710166 | CV656369 | single nucleotide variant | NM_004320.6(ATP2A1):c.1296T>C (p.Gly432=) | not provided [RCV000827625] | likely benign | 16 | 28894830 | 28894830 | Human | | name |
| 15137499 | CV693836 | single nucleotide variant | NM_004320.6(ATP2A1):c.1014C>T (p.Ser338=) | Brody myopathy [RCV005056653] | likely benign | 16 | 28888872 | 28888872 | Human | 1 | name |
| 15131424 | CV693837 | single nucleotide variant | NM_004320.6(ATP2A1):c.1566C>T (p.Ile522=) | Brody myopathy [RCV000875984] | likely benign | 16 | 28898253 | 28898253 | Human | 1 | name |
| 15125624 | CV693839 | single nucleotide variant | NM_004320.6(ATP2A1):c.1953C>T (p.Arg651=) | Brody myopathy [RCV000874985] | likely benign | 16 | 28900769 | 28900769 | Human | 1 | name |
| 15133034 | CV693840 | single nucleotide variant | NM_004320.6(ATP2A1):c.2253C>T (p.Arg751=) | Brody myopathy [RCV003768720] | likely benign | 16 | 28902015 | 28902015 | Human | 1 | name |
| 15147494 | CV693841 | single nucleotide variant | NM_004320.6(ATP2A1):c.2400C>T (p.Asp800=) | Brody myopathy [RCV001488385] | likely benign | 16 | 28902262 | 28902262 | Human | 1 | name |
| 15133460 | CV693842 | single nucleotide variant | NM_004320.6(ATP2A1):c.2457C>T (p.Arg819=) | Brody myopathy [RCV000876316] | likely benign | 16 | 28902319 | 28902319 | Human | 1 | name |
| 15125860 | CV693843 | single nucleotide variant | NM_004320.6(ATP2A1):c.2631C>T (p.Thr877=) | Brody myopathy [RCV000875022] | likely benign | 16 | 28902798 | 28902798 | Human | 1 | name |
| 15187085 | CV726557 | single nucleotide variant | NM_004320.6(ATP2A1):c.2334C>T (p.Thr778=) | Brody myopathy [RCV000887157] | likely benign | 16 | 28902196 | 28902196 | Human | 1 | name |
| 15200484 | CV726558 | single nucleotide variant | NM_004320.6(ATP2A1):c.2520C>T (p.Ile840=) | ATP2A1-related disorder [RCV003957946]|Brody myopathy [RCV000890926] | likely benign | 16 | 28902382 | 28902382 | Human | 1 | name , trait , alternate_id |
| 15130352 | CV740093 | single nucleotide variant | NM_004320.6(ATP2A1):c.1254C>T (p.Ala418=) | Brody myopathy [RCV001463981] | likely benign | 16 | 28894574 | 28894574 | Human | 1 | name |
| 15165528 | CV755080 | single nucleotide variant | NM_004320.6(ATP2A1):c.1006T>C (p.Leu336=) | Brody myopathy [RCV001483808] | likely benign | 16 | 28888864 | 28888864 | Human | 1 | name |
| 15162210 | CV755081 | single nucleotide variant | NM_004320.6(ATP2A1):c.1998G>A (p.Gln666=) | Brody myopathy [RCV001501841] | likely benign | 16 | 28900814 | 28900814 | Human | 1 | name |
| 15164674 | CV755082 | single nucleotide variant | NM_004320.6(ATP2A1):c.2157C>T (p.Ala719=) | not provided [RCV000926440] | likely benign | 16 | 28901919 | 28901919 | Human | | name |
| 15200141 | CV755083 | single nucleotide variant | NM_004320.6(ATP2A1):c.2958C>T (p.Phe986=) | Brody myopathy [RCV002065837] | likely benign | 16 | 28903418 | 28903418 | Human | 1 | name |
| 15198580 | CV770839 | single nucleotide variant | NM_004320.6(ATP2A1):c.1302T>C (p.Tyr434=) | Brody myopathy [RCV000934856]|not specified [RCV004997510] | likely benign | 16 | 28894836 | 28894836 | Human | 1 | name |
| 15141860 | CV770840 | single nucleotide variant | NM_004320.6(ATP2A1):c.1620G>T (p.Pro540=) | Brody myopathy [RCV001500184] | likely benign | 16 | 28898307 | 28898307 | Human | 1 | name |
| 15200878 | CV770841 | single nucleotide variant | NM_004320.6(ATP2A1):c.1749G>A (p.Arg583=) | Brody myopathy [RCV001455152] | likely benign | 16 | 28898436 | 28898436 | Human | 1 | name |
| 15176449 | CV770842 | single nucleotide variant | NM_004320.6(ATP2A1):c.2721C>T (p.Ile907=) | Brody myopathy [RCV001463553]|not provided [RCV000928920] | likely benign | 16 | 28902888 | 28902888 | Human | 1 | name |
| 15144264 | CV785250 | single nucleotide variant | NM_004320.6(ATP2A1):c.2175C>T (p.Ala725=) | Brody myopathy [RCV000983462] | likely benign | 16 | 28901937 | 28901937 | Human | 1 | name |
| 28892457 | CV875077 | single nucleotide variant | NM_004320.6(ATP2A1):c.1113G>A (p.Lys371=) | Brody myopathy [RCV001121352] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 28894172 | 28894172 | Human | 1 | name |
| 28876923 | CV875078 | single nucleotide variant | NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=) | Brody myopathy [RCV001116434] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 28894848 | 28894848 | Human | 1 | name |
| 38492371 | CV957725 | single nucleotide variant | NM_004320.6(ATP2A1):c.128C>T (p.Ala43Val) | Brody myopathy [RCV001240041]|Inborn genetic diseases [RCV002567942]|not provided [RCV002265014] | uncertain significance | 16 | 28879108 | 28879108 | Human | 2 | name |
| 126761084 | CV1012075 | single nucleotide variant | NM_004320.6(ATP2A1):c.847G>A (p.Val283Ile) | Brody myopathy [RCV001318533] | uncertain significance | 16 | 28887641 | 28887641 | Human | 1 | name |
| 126749893 | CV1012076 | single nucleotide variant | NM_004320.6(ATP2A1):c.958G>T (p.Ala320Ser) | Brody myopathy [RCV001326625] | uncertain significance | 16 | 28888816 | 28888816 | Human | 1 | name |
| 126731099 | CV1021438 | single nucleotide variant | NM_004320.6(ATP2A1):c.667G>A (p.Val223Met) | Brody myopathy [RCV001333624] | uncertain significance | 16 | 28887461 | 28887461 | Human | 1 | name |
| 8643453 | CV102436 | deletion | NM_004320.6(ATP2A1):c.2595del (p.Asn866fs) | not provided [RCV000082697] | pathogenic|uncertain significance | 16 | 28902650 | 28902650 | Human | | name |
| 8643454 | CV102437 | duplication | NM_004320.6(ATP2A1):c.2774dup (p.Met925fs) | not provided [RCV000082698] | pathogenic|likely pathogenic|uncertain significance | 16 | 28903058 | 28903059 | Human | | name |
| 126922997 | CV1049557 | single nucleotide variant | NM_004320.6(ATP2A1):c.334G>A (p.Ala112Thr) | Brody myopathy [RCV001365340] | uncertain significance | 16 | 28882460 | 28882460 | Human | 1 | name |
| 126919242 | CV1049558 | single nucleotide variant | NM_004320.6(ATP2A1):c.349G>A (p.Glu117Lys) | Brody myopathy [RCV001362183] | uncertain significance | 16 | 28882475 | 28882475 | Human | 1 | name |
| 150528836 | CV1288521 | single nucleotide variant | NM_004320.6(ATP2A1):c.445G>A (p.Asp149Asn) | not provided [RCV001726989] | uncertain significance | 16 | 28882571 | 28882571 | Human | | name |
| 150554311 | CV1295730 | single nucleotide variant | NM_004320.6(ATP2A1):c.766T>G (p.Phe256Val) | Brody myopathy [RCV003146232]|not provided [RCV001770960] | uncertain significance | 16 | 28887560 | 28887560 | Human | 1 | name |
| 150554558 | CV1304271 | single nucleotide variant | NM_004320.6(ATP2A1):c.997G>A (p.Val333Ile) | not provided [RCV001771241] | uncertain significance | 16 | 28888855 | 28888855 | Human | | name |
| 150547114 | CV1314057 | single nucleotide variant | NM_004320.6(ATP2A1):c.706C>T (p.Arg236Ter) | Brody myopathy [RCV001785150] | pathogenic | 16 | 28887500 | 28887500 | Human | 1 | name |
| 150547122 | CV1314063 | deletion | NM_004320.6(ATP2A1):c.2249del (p.Gly750fs) | Brody myopathy [RCV001785156] | pathogenic | 16 | 28902009 | 28902009 | Human | | name |
| 150536727 | CV1314239 | deletion | NM_004320.6(ATP2A1):c.2682del (p.Glu895fs) | Brody myopathy [RCV001780664] | likely pathogenic | 16 | 28902845 | 28902845 | Human | 1 | name |
| 151355745 | CV1326926 | single nucleotide variant | NM_004320.6(ATP2A1):c.704T>A (p.Ile235Asn) | Brody myopathy [RCV001822098] | pathogenic | 16 | 28887498 | 28887498 | Human | 1 | name |
| 151792123 | CV1341398 | single nucleotide variant | NM_004320.6(ATP2A1):c.757C>A (p.Leu253Met) | Brody myopathy [RCV001866345] | uncertain significance | 16 | 28887551 | 28887551 | Human | 1 | name |
| 151866673 | CV1342231 | single nucleotide variant | NM_004320.6(ATP2A1):c.356T>C (p.Leu119Pro) | Brody myopathy [RCV001997817] | uncertain significance | 16 | 28882482 | 28882482 | Human | 1 | name |
| 151876620 | CV1344940 | single nucleotide variant | NM_004320.6(ATP2A1):c.841G>A (p.Asp281Asn) | Brody myopathy [RCV001999015] | uncertain significance | 16 | 28887635 | 28887635 | Human | 1 | name |
| 151794137 | CV1348104 | single nucleotide variant | NM_004320.6(ATP2A1):c.448A>T (p.Ile150Phe) | Brody myopathy [RCV001876784] | uncertain significance | 16 | 28882574 | 28882574 | Human | 1 | name |
| 151803620 | CV1351841 | single nucleotide variant | NM_004320.6(ATP2A1):c.898G>A (p.Val300Met) | Brody myopathy [RCV001974133] | uncertain significance | 16 | 28887692 | 28887692 | Human | 1 | name |
| 151667561 | CV1353962 | single nucleotide variant | NM_004320.6(ATP2A1):c.919A>G (p.Ile307Val) | Brody myopathy [RCV001963794] | uncertain significance | 16 | 28887713 | 28887713 | Human | 1 | name |
| 151731573 | CV1355488 | single nucleotide variant | NM_004320.6(ATP2A1):c.302A>G (p.Asn101Ser) | Brody myopathy [RCV001984260] | uncertain significance | 16 | 28880997 | 28880997 | Human | 1 | name |
| 151772121 | CV1367006 | single nucleotide variant | NM_004320.6(ATP2A1):c.883T>C (p.Tyr295His) | Brody myopathy [RCV001988339] | uncertain significance | 16 | 28887677 | 28887677 | Human | 1 | name |
| 151835959 | CV1382979 | single nucleotide variant | NM_004320.6(ATP2A1):c.451G>A (p.Val151Met) | Brody myopathy [RCV001935557]|Inborn genetic diseases [RCV004681320] | uncertain significance | 16 | 28882577 | 28882577 | Human | 2 | name |
| 151834073 | CV1412950 | single nucleotide variant | NM_004320.6(ATP2A1):c.527A>T (p.Asp176Val) | Brody myopathy [RCV002014595] | uncertain significance | 16 | 28884638 | 28884638 | Human | 1 | name |
| 151773296 | CV1427775 | single nucleotide variant | NM_004320.6(ATP2A1):c.440C>G (p.Pro147Arg) | Brody myopathy [RCV001915189] | uncertain significance | 16 | 28882566 | 28882566 | Human | 1 | name |
| 151842312 | CV1438341 | single nucleotide variant | NM_004320.6(ATP2A1):c.840C>A (p.Asn280Lys) | Brody myopathy [RCV001921678]|not provided [RCV002281201] | uncertain significance | 16 | 28887634 | 28887634 | Human | 1 | name |
| 151757173 | CV1438659 | duplication | NM_004320.6(ATP2A1):c.888dup (p.Lys297Ter) | Brody myopathy [RCV002007448] | pathogenic | 16 | 28887679 | 28887680 | Human | 1 | name |
| 151837741 | CV1469914 | single nucleotide variant | NM_004320.6(ATP2A1):c.857G>A (p.Gly286Asp) | Brody myopathy [RCV001880983] | uncertain significance | 16 | 28887651 | 28887651 | Human | 1 | name |
| 151887119 | CV1471896 | single nucleotide variant | NM_004320.6(ATP2A1):c.474A>T (p.Lys158Asn) | Brody myopathy [RCV002000819] | uncertain significance | 16 | 28884585 | 28884585 | Human | 1 | name |
| 151781833 | CV1486770 | single nucleotide variant | NM_004320.6(ATP2A1):c.361G>A (p.Glu121Lys) | Brody myopathy [RCV001915951] | uncertain significance | 16 | 28882487 | 28882487 | Human | 1 | name |
| 151719716 | CV1498119 | single nucleotide variant | NM_004320.6(ATP2A1):c.553G>A (p.Val185Ile) | Brody myopathy [RCV001965779] | uncertain significance | 16 | 28887197 | 28887197 | Human | 1 | name |
| 151773838 | CV1504883 | single nucleotide variant | NM_004320.6(ATP2A1):c.664A>G (p.Ile222Val) | Brody myopathy [RCV002009101] | uncertain significance | 16 | 28887458 | 28887458 | Human | 1 | name |
| 151811185 | CV1506675 | single nucleotide variant | NM_004320.6(ATP2A1):c.391C>T (p.Arg131Trp) | Brody myopathy [RCV001918626]|Inborn genetic diseases [RCV004970485] | uncertain significance | 16 | 28882517 | 28882517 | Human | 2 | name |
| 151728415 | CV1515722 | single nucleotide variant | NM_004320.6(ATP2A1):c.689C>T (p.Thr230Ile) | Brody myopathy [RCV001983947] | uncertain significance | 16 | 28887483 | 28887483 | Human | 1 | name |
| 155670396 | CV1770994 | single nucleotide variant | NM_004320.6(ATP2A1):c.564C>G (p.Ile188Met) | Brody myopathy [RCV002297315] | uncertain significance | 16 | 28887208 | 28887208 | Human | 1 | name |
| 155717735 | CV1775465 | single nucleotide variant | NM_004320.6(ATP2A1):c.808G>T (p.Ala270Ser) | Brody myopathy [RCV002301144] | uncertain significance | 16 | 28887602 | 28887602 | Human | 1 | name |
| 156048578 | CV1868881 | single nucleotide variant | NM_004320.6(ATP2A1):c.499G>A (p.Ala167Thr) | Brody myopathy [RCV003052918] | uncertain significance | 16 | 28884610 | 28884610 | Human | 1 | name |
| 156281615 | CV1896822 | single nucleotide variant | NM_004320.6(ATP2A1):c.524T>G (p.Val175Gly) | Brody myopathy [RCV003087136] | uncertain significance | 16 | 28884635 | 28884635 | Human | 1 | name |
| 156181569 | CV1898039 | single nucleotide variant | NM_004320.6(ATP2A1):c.547G>A (p.Glu183Lys) | Brody myopathy [RCV002595078] | uncertain significance | 16 | 28887191 | 28887191 | Human | 1 | name |
| 155941593 | CV1902151 | single nucleotide variant | NM_004320.6(ATP2A1):c.329G>T (p.Arg110Leu) | Brody myopathy [RCV003073575] | uncertain significance | 16 | 28882455 | 28882455 | Human | 1 | name |
| 155939723 | CV1913506 | single nucleotide variant | NM_004320.6(ATP2A1):c.827T>C (p.Ile276Thr) | Brody myopathy [RCV002615548] | uncertain significance | 16 | 28887621 | 28887621 | Human | 1 | name |
| 156326537 | CV1982103 | single nucleotide variant | NM_004320.6(ATP2A1):c.593G>T (p.Arg198Leu) | Brody myopathy [RCV002649588] | uncertain significance | 16 | 28887237 | 28887237 | Human | 1 | name |
| 156183156 | CV1997612 | single nucleotide variant | NM_004320.6(ATP2A1):c.466G>A (p.Gly156Arg) | Brody myopathy [RCV002643087] | uncertain significance | 16 | 28884577 | 28884577 | Human | 1 | name |
| 156054891 | CV2023804 | single nucleotide variant | NM_004320.6(ATP2A1):c.610A>T (p.Lys204Ter) | Brody myopathy [RCV002736631] | pathogenic | 16 | 28887254 | 28887254 | Human | 1 | name |
| 155947301 | CV2062323 | single nucleotide variant | NM_004320.6(ATP2A1):c.496C>T (p.Leu166Phe) | Brody myopathy [RCV002816062] | uncertain significance | 16 | 28884607 | 28884607 | Human | 1 | name |
| 156282073 | CV2071130 | single nucleotide variant | NM_004320.6(ATP2A1):c.367G>C (p.Glu123Gln) | Brody myopathy [RCV002856419] | uncertain significance | 16 | 28882493 | 28882493 | Human | 1 | name |
| 156212752 | CV2074328 | single nucleotide variant | NM_004320.6(ATP2A1):c.811G>C (p.Val271Leu) | Brody myopathy [RCV002829363] | uncertain significance | 16 | 28887605 | 28887605 | Human | 1 | name |
| 156337865 | CV2096052 | single nucleotide variant | NM_004320.6(ATP2A1):c.420C>G (p.Ile140Met) | Brody myopathy [RCV002900309] | uncertain significance | 16 | 28882546 | 28882546 | Human | 1 | name |
| 156194662 | CV2099148 | single nucleotide variant | NM_004320.6(ATP2A1):c.707G>A (p.Arg236Gln) | Brody myopathy [RCV002917568] | uncertain significance | 16 | 28887501 | 28887501 | Human | 1 | name |
| 156272740 | CV2131673 | single nucleotide variant | NM_004320.6(ATP2A1):c.307A>G (p.Ile103Val) | Brody myopathy [RCV002988878] | uncertain significance | 16 | 28881002 | 28881002 | Human | 1 | name |
| 156341376 | CV2179856 | single nucleotide variant | NM_004320.6(ATP2A1):c.916G>T (p.Ala306Ser) | Brody myopathy [RCV003030301] | uncertain significance | 16 | 28887710 | 28887710 | Human | 1 | name |
| 155964881 | CV2179963 | single nucleotide variant | NM_004320.6(ATP2A1):c.655G>A (p.Ala219Thr) | Brody myopathy [RCV003033117] | uncertain significance | 16 | 28887449 | 28887449 | Human | 1 | name |
| 156117847 | CV2183076 | single nucleotide variant | NM_004320.6(ATP2A1):c.836T>C (p.Phe279Ser) | Brody myopathy [RCV003039197] | uncertain significance | 16 | 28887630 | 28887630 | Human | 1 | name |
| 156376669 | CV2189030 | single nucleotide variant | NM_004320.6(ATP2A1):c.299C>T (p.Ala100Val) | Brody myopathy [RCV003050158] | uncertain significance | 16 | 28880994 | 28880994 | Human | 1 | name |
| 156179993 | CV2201703 | single nucleotide variant | NM_004320.6(ATP2A1):c.562A>G (p.Ile188Val) | Brody myopathy [RCV003143532]|Inborn genetic diseases [RCV002665244] | uncertain significance | 16 | 28887206 | 28887206 | Human | 2 | name |
| 155930729 | CV2224792 | single nucleotide variant | NM_004320.6(ATP2A1):c.343G>A (p.Ala115Thr) | Inborn genetic diseases [RCV002728721] | uncertain significance | 16 | 28882469 | 28882469 | Human | 1 | name |
| 156097506 | CV2310271 | single nucleotide variant | NM_004320.6(ATP2A1):c.559G>A (p.Val187Ile) | Inborn genetic diseases [RCV002888419] | uncertain significance | 16 | 28887203 | 28887203 | Human | 1 | name |
| 243064788 | CV2411958 | single nucleotide variant | NM_004320.6(ATP2A1):c.401G>A (p.Arg134His) | Brody myopathy [RCV003143616] | uncertain significance | 16 | 28882527 | 28882527 | Human | 1 | name |
| 243064789 | CV2411959 | single nucleotide variant | NM_004320.6(ATP2A1):c.632G>T (p.Gly211Val) | Brody myopathy [RCV003143617] | uncertain significance | 16 | 28887426 | 28887426 | Human | 1 | name |
| 243064794 | CV2411964 | single nucleotide variant | NM_004320.6(ATP2A1):c.856G>A (p.Gly286Ser) | Brody myopathy [RCV003143622] | uncertain significance | 16 | 28887650 | 28887650 | Human | 1 | name |
| 243064795 | CV2411965 | single nucleotide variant | NM_004320.6(ATP2A1):c.554T>C (p.Val185Ala) | Brody myopathy [RCV003143623] | uncertain significance | 16 | 28887198 | 28887198 | Human | 1 | name |
| 243064799 | CV2411969 | single nucleotide variant | NM_004320.6(ATP2A1):c.730C>A (p.Gln244Lys) | Brody myopathy [RCV003143627] | uncertain significance | 16 | 28887524 | 28887524 | Human | 1 | name |
| 243064800 | CV2411970 | single nucleotide variant | NM_004320.6(ATP2A1):c.649G>A (p.Gly217Ser) | Brody myopathy [RCV003143628]|not provided [RCV004697270] | uncertain significance | 16 | 28887443 | 28887443 | Human | 1 | name |
| 243064801 | CV2411971 | single nucleotide variant | NM_004320.6(ATP2A1):c.436G>A (p.Val146Ile) | Brody myopathy [RCV003143629] | uncertain significance | 16 | 28882562 | 28882562 | Human | 1 | name |
| 243064802 | CV2411972 | single nucleotide variant | NM_004320.6(ATP2A1):c.790A>G (p.Ile264Val) | Brody myopathy [RCV003143630]|Inborn genetic diseases [RCV004963574] | uncertain significance | 16 | 28887584 | 28887584 | Human | 2 | name |
| 243064804 | CV2411974 | single nucleotide variant | NM_004320.6(ATP2A1):c.973C>T (p.Arg325Trp) | Brody myopathy [RCV003143632] | uncertain significance | 16 | 28888831 | 28888831 | Human | 1 | name |
| 243064808 | CV2411978 | single nucleotide variant | NM_004320.6(ATP2A1):c.671C>G (p.Ala224Gly) | Brody myopathy [RCV003143636] | uncertain significance | 16 | 28887465 | 28887465 | Human | 1 | name |
| 401962792 | CV2845414 | single nucleotide variant | NM_004320.6(ATP2A1):c.352G>C (p.Ala118Pro) | not provided [RCV003482875] | uncertain significance | 16 | 28882478 | 28882478 | Human | | name |
| 404977224 | CV2849679 | single nucleotide variant | NM_004320.6(ATP2A1):c.520C>T (p.Arg174Trp) | Brody myopathy [RCV003486018] | uncertain significance | 16 | 28884631 | 28884631 | Human | 1 | name |
| 405031528 | CV2915271 | duplication | NM_004320.6(ATP2A1):c.1712dup (p.Lys572fs) | Brody myopathy [RCV003516877] | pathogenic | 16 | 28898392 | 28898393 | Human | 1 | name |
| 405228552 | CV3180334 | deletion | NM_004320.6(ATP2A1):c.1712del (p.Pro571fs) | Brody myopathy [RCV003864754] | pathogenic | 16 | 28898393 | 28898393 | Human | 1 | name |
| 405289265 | CV3205075 | single nucleotide variant | NM_004320.6(ATP2A1):c.343G>T (p.Ala115Ser) | ATP2A1-related disorder [RCV003961687] | uncertain significance | 16 | 28882469 | 28882469 | Human | | name , trait , alternate_id |
| 11612867 | CV324941 | single nucleotide variant | NM_004320.6(ATP2A1):c.937G>A (p.Ala313Thr) | Brody myopathy [RCV000263051] | uncertain significance | 16 | 28888795 | 28888795 | Human | 1 | name |
| 8566392 | CV32841 | single nucleotide variant | NM_004320.6(ATP2A1):c.592C>T (p.Arg198Ter) | Brody myopathy [RCV000019380] | pathogenic | 16 | 28887236 | 28887236 | Human | 1 | name |
| 407522084 | CV3492651 | single nucleotide variant | NM_004320.6(ATP2A1):c.826A>G (p.Ile276Val) | Inborn genetic diseases [RCV004677545] | uncertain significance | 16 | 28887620 | 28887620 | Human | 1 | name |
| 407509648 | CV3496492 | single nucleotide variant | NM_004320.6(ATP2A1):c.970C>T (p.Arg324Cys) | not provided [RCV004698333] | uncertain significance | 16 | 28888828 | 28888828 | Human | | name |
| 597628106 | CV3613144 | single nucleotide variant | NM_004320.6(ATP2A1):c.967A>T (p.Thr323Ser) | Inborn genetic diseases [RCV004966730] | uncertain significance | 16 | 28888825 | 28888825 | Human | 1 | name |
| 597628109 | CV3613174 | single nucleotide variant | NM_004320.6(ATP2A1):c.742C>T (p.Pro248Ser) | Inborn genetic diseases [RCV004966731] | uncertain significance | 16 | 28887536 | 28887536 | Human | 1 | name |
| 12842766 | CV374320 | single nucleotide variant | NM_004320.6(ATP2A1):c.422A>G (p.Lys141Arg) | Brody myopathy [RCV001865398]|not provided [RCV000435019] | uncertain significance | 16 | 28882548 | 28882548 | Human | 1 | name |
| 12844908 | CV375058 | single nucleotide variant | NM_004320.6(ATP2A1):c.640A>G (p.Ile214Val) | Brody myopathy [RCV001865404]|Inborn genetic diseases [RCV005286081]|not provided [RCV000767192]|not specified [RCV000438836] | uncertain significance | 16 | 28887434 | 28887434 | Human | 2 | name |
| 12833088 | CV375360 | single nucleotide variant | NM_004320.6(ATP2A1):c.839A>G (p.Asn280Ser) | Brody myopathy [RCV000535655]|not provided [RCV001721337]|not specified [RCV000417845] | benign|likely benign|uncertain significance | 16 | 28887633 | 28887633 | Human | 1 | name |
| 597922034 | CV3777450 | single nucleotide variant | NM_004320.6(ATP2A1):c.925G>A (p.Glu309Lys) | Brody myopathy [RCV005130379] | uncertain significance | 16 | 28887719 | 28887719 | Human | 1 | name |
| 597890172 | CV3839703 | duplication | NM_004320.6(ATP2A1):c.1086dup (p.Val363fs) | Brody myopathy [RCV005179595] | pathogenic | 16 | 28888943 | 28888944 | Human | 1 | name |
| 597935159 | CV3863638 | single nucleotide variant | NM_004320.6(ATP2A1):c.440C>T (p.Pro147Leu) | not provided [RCV005207451] | uncertain significance | 16 | 28882566 | 28882566 | Human | | name |
| 598224224 | CV3920261 | single nucleotide variant | NM_004320.6(ATP2A1):c.641T>C (p.Ile214Thr) | Inborn genetic diseases [RCV005294068] | uncertain significance | 16 | 28887435 | 28887435 | Human | 1 | name |
| 598224271 | CV3920270 | single nucleotide variant | NM_004320.6(ATP2A1):c.730C>G (p.Gln244Glu) | Inborn genetic diseases [RCV005294077] | uncertain significance | 16 | 28887524 | 28887524 | Human | 1 | name |
| 598224346 | CV3920290 | single nucleotide variant | NM_004320.6(ATP2A1):c.342C>A (p.Asn114Lys) | Inborn genetic diseases [RCV005294091] | uncertain significance | 16 | 28882468 | 28882468 | Human | 1 | name |
| 598164540 | CV3920296 | single nucleotide variant | NM_004320.6(ATP2A1):c.929G>C (p.Gly310Ala) | Inborn genetic diseases [RCV005283309] | uncertain significance | 16 | 28888787 | 28888787 | Human | 1 | name |
| 598190791 | CV4008880 | deletion | NM_004320.6(ATP2A1):c.2865del (p.Met955fs) | Brody myopathy [RCV005396381] | likely pathogenic | 16 | 28903325 | 28903325 | Human | 1 | name |
| 12913109 | CV422089 | single nucleotide variant | NM_004320.6(ATP2A1):c.691G>A (p.Glu231Lys) | Brody myopathy [RCV003144290]|not provided [RCV000493400] | uncertain significance | 16 | 28887485 | 28887485 | Human | 1 | name |
| 12913686 | CV422090 | single nucleotide variant | NM_004320.6(ATP2A1):c.871G>A (p.Gly291Arg) | Brody myopathy [RCV001351111]|not provided [RCV000494126] | uncertain significance | 16 | 28887665 | 28887665 | Human | 1 | name |
| 13488146 | CV445557 | single nucleotide variant | NM_004320.6(ATP2A1):c.580G>A (p.Val194Ile) | Brody myopathy [RCV001211752]|Inborn genetic diseases [RCV002525223]|not provided [RCV000523470] | uncertain significance | 16 | 28887224 | 28887224 | Human | 2 | name |
| 13474773 | CV466323 | single nucleotide variant | NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) | Brody myopathy [RCV000547197]|not provided [RCV004691871] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 28882554 | 28882554 | Human | 1 | name |
| 13473218 | CV466350 | single nucleotide variant | NM_004320.6(ATP2A1):c.362A>G (p.Glu121Gly) | Brody myopathy [RCV000537002] | uncertain significance | 16 | 28882488 | 28882488 | Human | 1 | name |
| 13474328 | CV466354 | duplication | NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) | ATP2A1-related disorder [RCV003392382]|Brody myopathy [RCV000544224]|not provided [RCV000598958] | pathogenic|likely pathogenic | 16 | 28902318 | 28902319 | Human | 1 | name , trait , alternate_id |
| 13472102 | CV466356 | deletion | NM_004320.6(ATP2A1):c.2464del (p.Arg822fs) | Brody myopathy [RCV000529448]|not provided [RCV000598570] | pathogenic|likely pathogenic | 16 | 28902319 | 28902319 | Human | 1 | name |
| 13607667 | CV529975 | single nucleotide variant | NM_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 significance | 16 | 28887527 | 28887527 | Human | 2 | name , trait , alternate_id |
| 13808805 | CV568063 | single nucleotide variant | NM_004320.6(ATP2A1):c.329G>A (p.Arg110Gln) | Brody myopathy [RCV000701840] | uncertain significance | 16 | 28882455 | 28882455 | Human | 1 | name |
| 13817537 | CV568066 | single nucleotide variant | NM_004320.6(ATP2A1):c.550T>G (p.Ser184Ala) | Brody myopathy [RCV000693087] | uncertain significance | 16 | 28887194 | 28887194 | Human | 1 | name |
| 13805430 | CV574013 | microsatellite | NM_004320.6(ATP2A1):c.57_60del (p.Ser19fs) | Brody myopathy [RCV000700070] | pathogenic | 16 | 28878723 | 28878726 | Human | | name |
| 13812877 | CV574017 | single nucleotide variant | NM_004320.6(ATP2A1):c.433A>G (p.Ile145Val) | Brody myopathy [RCV000703994] | uncertain significance | 16 | 28882559 | 28882559 | Human | 1 | name |
| 13810052 | CV574024 | single nucleotide variant | NM_004320.6(ATP2A1):c.521G>A (p.Arg174Gln) | Brody myopathy [RCV000688052]|Inborn genetic diseases [RCV003258921]|not provided [RCV001766470] | uncertain significance | 16 | 28884632 | 28884632 | Human | 2 | name |
| 14713007 | CV644547 | single nucleotide variant | NM_004320.6(ATP2A1):c.328C>T (p.Arg110Trp) | Brody myopathy [RCV000792109]|Inborn genetic diseases [RCV002535861] | uncertain significance | 16 | 28882454 | 28882454 | Human | 2 | name |
| 14717223 | CV644548 | single nucleotide variant | NM_004320.6(ATP2A1):c.479C>T (p.Pro160Leu) | Brody myopathy [RCV000806978] | uncertain significance | 16 | 28884590 | 28884590 | Human | 1 | name |
| 14701167 | CV644549 | single nucleotide variant | NM_004320.6(ATP2A1):c.629C>T (p.Ser210Leu) | Brody myopathy [RCV000814449] | uncertain significance | 16 | 28887273 | 28887273 | Human | 1 | name |
| 14715783 | CV644550 | single nucleotide variant | NM_004320.6(ATP2A1):c.868C>T (p.Arg290Cys) | Brody myopathy [RCV000801409] | uncertain significance | 16 | 28887662 | 28887662 | Human | 1 | name |
| 14716909 | CV644551 | single nucleotide variant | NM_004320.6(ATP2A1):c.869G>A (p.Arg290His) | Brody myopathy [RCV000805823] | uncertain significance | 16 | 28887663 | 28887663 | Human | 1 | name |
| 14717751 | CV644552 | single nucleotide variant | NM_004320.6(ATP2A1):c.971G>A (p.Arg324His) | Brody myopathy [RCV000808813]|not provided [RCV001289249]|not specified [RCV002265888] | uncertain significance | 16 | 28888829 | 28888829 | Human | 1 | name |
| 14714587 | CV644553 | single nucleotide variant | NM_004320.6(ATP2A1):c.974G>A (p.Arg325Gln) | Brody myopathy [RCV000797423] | uncertain significance | 16 | 28888832 | 28888832 | Human | 1 | name |
| 14715672 | CV652559 | indel | NM_004320.6(ATP2A1):c.1764_1764+2delinsTGG | Brody myopathy [RCV000801197] | likely pathogenic | 16 | 28898451 | 28898453 | Human | | name |
| 21075376 | CV797301 | single nucleotide variant | NM_004320.6(ATP2A1):c.427C>T (p.Arg143Trp) | not provided [RCV000996248] | uncertain significance | 16 | 28882553 | 28882553 | Human | | name |
| 26886747 | CV843705 | single nucleotide variant | NM_004320.6(ATP2A1):c.310G>A (p.Val104Met) | Brody myopathy [RCV001044422] | uncertain significance | 16 | 28881005 | 28881005 | Human | 1 | name |
| 26890622 | CV843706 | single nucleotide variant | NM_004320.6(ATP2A1):c.400C>T (p.Arg134Cys) | Brody myopathy [RCV001046100]|Inborn genetic diseases [RCV003363068] | uncertain significance | 16 | 28882526 | 28882526 | Human | 2 | name |
| 26920040 | CV843707 | single nucleotide variant | NM_004320.6(ATP2A1):c.490C>T (p.Arg164Ter) | Brody myopathy [RCV001059580] | pathogenic | 16 | 28884601 | 28884601 | Human | 1 | name |
| 26904160 | CV843708 | single nucleotide variant | NM_004320.6(ATP2A1):c.938C>T (p.Ala313Val) | Brody myopathy [RCV001036404] | uncertain significance | 16 | 28888796 | 28888796 | Human | 1 | name |
| 26903187 | CV858414 | insertion | NM_004320.6(ATP2A1):c.902_903insSVAelement | Brody myopathy [RCV001089780] | pathogenic | 16 | 28887696 | 28887697 | Human | 1 | name |
| 28886426 | CV875075 | single nucleotide variant | NM_004320.6(ATP2A1):c.472A>G (p.Lys158Glu) | Brody myopathy [RCV001119339]|Inborn genetic diseases [RCV002558180]|not provided [RCV001289248] | uncertain significance | 16 | 28884583 | 28884583 | Human | 2 | name |
| 28886429 | CV875076 | single nucleotide variant | NM_004320.6(ATP2A1):c.515C>T (p.Thr172Met) | Brody myopathy [RCV001119340] | uncertain significance | 16 | 28884626 | 28884626 | Human | 1 | name |
| 38493283 | CV927761 | single nucleotide variant | NM_004320.6(ATP2A1):c.719C>T (p.Ala240Val) | Brody myopathy [RCV001224168] | uncertain significance | 16 | 28887513 | 28887513 | Human | 1 | name |
| 38483124 | CV937401 | single nucleotide variant | NM_004320.6(ATP2A1):c.448A>G (p.Ile150Val) | Brody myopathy [RCV001207527] | uncertain significance | 16 | 28882574 | 28882574 | Human | 1 | name |
| 38465316 | CV949351 | single nucleotide variant | NM_004320.6(ATP2A1):c.580G>T (p.Val194Phe) | Brody myopathy [RCV001230125] | uncertain significance | 16 | 28887224 | 28887224 | Human | 1 | name |
| 126725239 | CV996848 | single nucleotide variant | NM_004320.6(ATP2A1):c.844C>T (p.Pro282Ser) | Brody myopathy [RCV001302505] | uncertain significance | 16 | 28887638 | 28887638 | Human | 1 | name |
| 126765802 | CV1012077 | single nucleotide variant | NM_004320.6(ATP2A1):c.1231G>C (p.Val411Leu) | Brody myopathy [RCV001320188] | uncertain significance | 16 | 28894551 | 28894551 | Human | 1 | name |
| 126768360 | CV1012078 | single nucleotide variant | NM_004320.6(ATP2A1):c.1444G>A (p.Glu482Lys) | Brody myopathy [RCV001321319] | uncertain significance | 16 | 28898024 | 28898024 | Human | 1 | name |
| 126739728 | CV1012079 | single nucleotide variant | NM_004320.6(ATP2A1):c.1571G>A (p.Arg524His) | Brody myopathy [RCV001325095]|not provided [RCV004692506] | uncertain significance | 16 | 28898258 | 28898258 | Human | 1 | name |
| 126749562 | CV1012080 | single nucleotide variant | NM_004320.6(ATP2A1):c.1603G>A (p.Val535Met) | Brody myopathy [RCV001315743] | uncertain significance | 16 | 28898290 | 28898290 | Human | 1 | name |
| 126761070 | CV1012081 | single nucleotide variant | NM_004320.6(ATP2A1):c.1640C>T (p.Ala547Val) | Brody myopathy [RCV001318528] | uncertain significance | 16 | 28898327 | 28898327 | Human | 1 | name |
| 126746783 | CV1012082 | single nucleotide variant | NM_004320.6(ATP2A1):c.1714A>C (p.Lys572Gln) | Brody myopathy [RCV001315246] | uncertain significance | 16 | 28898401 | 28898401 | Human | 1 | name |
| 126766562 | CV1012083 | single nucleotide variant | NM_004320.6(ATP2A1):c.1808C>T (p.Pro603Leu) | Brody myopathy [RCV001320500] | uncertain significance | 16 | 28900624 | 28900624 | Human | 1 | name |
| 126756006 | CV1012084 | single nucleotide variant | NM_004320.6(ATP2A1):c.2060T>C (p.Ile687Thr) | Brody myopathy [RCV001317078] | uncertain significance | 16 | 28900876 | 28900876 | Human | 1 | name |
| 126750751 | CV1012085 | single nucleotide variant | NM_004320.6(ATP2A1):c.2485A>G (p.Ile829Val) | Brody myopathy [RCV001326784] | uncertain significance | 16 | 28902347 | 28902347 | Human | 1 | name |
| 126911286 | CV1049559 | single nucleotide variant | NM_004320.6(ATP2A1):c.1091G>C (p.Cys364Ser) | Brody myopathy [RCV001369141] | uncertain significance | 16 | 28888949 | 28888949 | Human | 1 | name |
| 126916536 | CV1049561 | single nucleotide variant | NM_004320.6(ATP2A1):c.1606C>T (p.Pro536Ser) | Brody myopathy [RCV001360635] | uncertain significance | 16 | 28898293 | 28898293 | Human | 1 | name |
| 126915594 | CV1049562 | single nucleotide variant | NM_004320.6(ATP2A1):c.1978G>A (p.Asp660Asn) | Brody myopathy [RCV001371007] | uncertain significance | 16 | 28900794 | 28900794 | Human | 1 | name |
| 126922199 | CV1049563 | single nucleotide variant | NM_004320.6(ATP2A1):c.2029G>T (p.Ala677Ser) | Brody myopathy [RCV001364387] | uncertain significance | 16 | 28900845 | 28900845 | Human | 1 | name |
| 126918327 | CV1049564 | single nucleotide variant | NM_004320.6(ATP2A1):c.2056A>C (p.Lys686Gln) | Brody myopathy [RCV001361662] | uncertain significance | 16 | 28900872 | 28900872 | Human | 1 | name |
| 126914594 | CV1049565 | single nucleotide variant | NM_004320.6(ATP2A1):c.2584G>A (p.Gly862Arg) | Brody myopathy [RCV001359595] | uncertain significance | 16 | 28902639 | 28902639 | Human | 1 | name |
| 126917748 | CV1049566 | single nucleotide variant | NM_004320.6(ATP2A1):c.2879G>A (p.Arg960Gln) | Brody myopathy [RCV001372252]|Inborn genetic diseases [RCV004037526] | likely benign|uncertain significance | 16 | 28903339 | 28903339 | Human | 2 | name |
| 150422909 | CV1181363 | single nucleotide variant | NM_004320.6(ATP2A1):c.1913G>A (p.Arg638Gln) | Brody myopathy [RCV001859374]|Inborn genetic diseases [RCV002568988]|not provided [RCV001553292] | uncertain significance | 16 | 28900729 | 28900729 | Human | 2 | name |
| 150416084 | CV1198760 | single nucleotide variant | NM_004320.6(ATP2A1):c.2836C>G (p.Leu946Val) | Brody myopathy [RCV002569080]|not provided [RCV001575680] | uncertain significance | 16 | 28903121 | 28903121 | Human | 1 | name |
| 150408148 | CV1200048 | single nucleotide variant | NM_004320.6(ATP2A1):c.1324G>A (p.Glu442Lys) | not provided [RCV001580046] | uncertain significance | 16 | 28894858 | 28894858 | Human | | name |
| 150551314 | CV1292639 | single nucleotide variant | NM_004320.6(ATP2A1):c.2515G>A (p.Ala839Thr) | not provided [RCV001754246] | uncertain significance | 16 | 28902377 | 28902377 | Human | | name |
| 150551459 | CV1292723 | single nucleotide variant | NM_004320.6(ATP2A1):c.2230G>A (p.Val744Ile) | Brody myopathy [RCV002032755]|not provided [RCV001754331] | uncertain significance | 16 | 28901992 | 28901992 | Human | 1 | name |
| 150529752 | CV1293160 | single nucleotide variant | NM_004320.6(ATP2A1):c.2518A>G (p.Ile840Val) | Brody myopathy [RCV002032760]|not provided [RCV001756378] | uncertain significance | 16 | 28902380 | 28902380 | Human | 1 | name |
| 150549794 | CV1299880 | single nucleotide variant | NM_004320.6(ATP2A1):c.1586G>A (p.Arg529Gln) | not provided [RCV001765349] | uncertain significance | 16 | 28898273 | 28898273 | Human | | name |
| 150555812 | CV1305296 | single nucleotide variant | NM_004320.6(ATP2A1):c.1156G>A (p.Gly386Ser) | not provided [RCV001773229] | uncertain significance | 16 | 28894215 | 28894215 | Human | | name |
| 150547079 | CV1314042 | single nucleotide variant | NM_004320.6(ATP2A1):c.1216C>T (p.Gln406Ter) | Brody myopathy [RCV001785135] | pathogenic|likely pathogenic | 16 | 28894536 | 28894536 | Human | 1 | name |
| 150547154 | CV1314080 | single nucleotide variant | NM_004320.6(ATP2A1):c.2574C>G (p.Tyr858Ter) | Brody myopathy [RCV001785173] | pathogenic | 16 | 28902629 | 28902629 | Human | 1 | name |
| 150536724 | CV1314237 | single nucleotide variant | NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter) | Brody myopathy [RCV001780662] | pathogenic|likely pathogenic | 16 | 28902629 | 28902629 | Human | 1 | name |
| 151233396 | CV1317808 | single nucleotide variant | NM_004320.6(ATP2A1):c.2644C>T (p.His882Tyr) | Brody myopathy [RCV002541264]|not provided [RCV001787574] | uncertain significance | 16 | 28902811 | 28902811 | Human | 1 | name |
| 151855656 | CV1344631 | single nucleotide variant | NM_004320.6(ATP2A1):c.2262C>G (p.Tyr754Ter) | Brody myopathy [RCV001923360] | pathogenic | 16 | 28902024 | 28902024 | Human | 1 | name |
| 151786708 | CV1345053 | single nucleotide variant | NM_004320.6(ATP2A1):c.1916T>C (p.Ile639Thr) | Brody myopathy [RCV001989653]|not provided [RCV003481242] | uncertain significance | 16 | 28900732 | 28900732 | Human | 1 | name |
| 151840400 | CV1345876 | single nucleotide variant | NM_004320.6(ATP2A1):c.1844G>A (p.Arg615His) | Brody myopathy [RCV001902768] | uncertain significance | 16 | 28900660 | 28900660 | Human | 1 | name |
| 151722672 | CV1346531 | single nucleotide variant | NM_004320.6(ATP2A1):c.2040G>T (p.Glu680Asp) | Brody myopathy [RCV001966200] | uncertain significance | 16 | 28900856 | 28900856 | Human | 1 | name |
| 151767067 | CV1348677 | single nucleotide variant | NM_004320.6(ATP2A1):c.2762C>T (p.Ser921Phe) | Brody myopathy [RCV001895968] | uncertain significance | 16 | 28903047 | 28903047 | Human | 1 | name |
| 151844899 | CV1349655 | single nucleotide variant | NM_004320.6(ATP2A1):c.1333C>A (p.Leu445Ile) | Brody myopathy [RCV001936578] | uncertain significance | 16 | 28894867 | 28894867 | Human | 1 | name |
| 151716308 | CV1349777 | single nucleotide variant | NM_004320.6(ATP2A1):c.2777C>G (p.Pro926Arg) | Brody myopathy [RCV001965279]|Inborn genetic diseases [RCV002562188]|not provided [RCV003236910] | uncertain significance | 16 | 28903062 | 28903062 | Human | 2 | name |
| 151780578 | CV1356011 | single nucleotide variant | NM_004320.6(ATP2A1):c.1843C>G (p.Arg615Gly) | Brody myopathy [RCV002046126] | uncertain significance | 16 | 28900659 | 28900659 | Human | 1 | name |
| 151764648 | CV1362332 | single nucleotide variant | NM_004320.6(ATP2A1):c.1513C>T (p.Arg505Trp) | Brody myopathy [RCV001970575] | uncertain significance | 16 | 28898093 | 28898093 | Human | 1 | name |
| 151753116 | CV1363754 | single nucleotide variant | NM_004320.6(ATP2A1):c.1966C>T (p.Arg656Ter) | Brody myopathy [RCV001872466] | pathogenic | 16 | 28900782 | 28900782 | Human | 1 | name |
| 151819543 | CV1378238 | single nucleotide variant | NM_004320.6(ATP2A1):c.1678C>T (p.Arg560Cys) | Brody myopathy [RCV002029751] | uncertain significance | 16 | 28898365 | 28898365 | Human | 1 | name |
| 151878371 | CV1383458 | single nucleotide variant | NM_004320.6(ATP2A1):c.2971T>C (p.Tyr991His) | Brody myopathy [RCV001907352] | uncertain significance | 16 | 28903431 | 28903431 | Human | 1 | name |
| 151711190 | CV1394980 | single nucleotide variant | NM_004320.6(ATP2A1):c.2083G>A (p.Asp695Asn) | Brody myopathy [RCV001964331]|Inborn genetic diseases [RCV003289322] | uncertain significance | 16 | 28900899 | 28900899 | Human | 2 | name |
| 151839993 | CV1415311 | single nucleotide variant | NM_004320.6(ATP2A1):c.1510T>G (p.Ser504Ala) | Brody myopathy [RCV001921420]|not provided [RCV003481193] | uncertain significance | 16 | 28898090 | 28898090 | Human | 1 | name |
| 151796391 | CV1415806 | single nucleotide variant | NM_004320.6(ATP2A1):c.2290C>T (p.Leu764Phe) | Brody myopathy [RCV001898656] | uncertain significance | 16 | 28902052 | 28902052 | Human | 1 | name |
| 151806073 | CV1430004 | single nucleotide variant | NM_004320.6(ATP2A1):c.1531A>C (p.Lys511Gln) | Brody myopathy [RCV001974347] | uncertain significance | 16 | 28898111 | 28898111 | Human | 1 | name |
| 151789413 | CV1434478 | single nucleotide variant | NM_004320.6(ATP2A1):c.1961C>T (p.Thr654Met) | Brody myopathy [RCV001876363] | uncertain significance | 16 | 28900777 | 28900777 | Human | 1 | name |
| 151827610 | CV1435426 | single nucleotide variant | NM_004320.6(ATP2A1):c.1600C>T (p.Arg534Trp) | Brody myopathy [RCV001955359] | uncertain significance | 16 | 28898287 | 28898287 | Human | 1 | name |
| 151871810 | CV1436650 | single nucleotide variant | NM_004320.6(ATP2A1):c.2398G>C (p.Asp800His) | Brody myopathy [RCV001998444] | uncertain significance | 16 | 28902260 | 28902260 | Human | 1 | name |
| 151723976 | CV1436971 | single nucleotide variant | NM_004320.6(ATP2A1):c.2305G>A (p.Val769Met) | Brody myopathy [RCV002004039] | uncertain significance | 16 | 28902067 | 28902067 | Human | 1 | name |
| 151875602 | CV1466837 | single nucleotide variant | NM_004320.6(ATP2A1):c.1039G>A (p.Val347Ile) | Brody myopathy [RCV001885819] | uncertain significance | 16 | 28888897 | 28888897 | Human | 1 | name |
| 151778686 | CV1468742 | single nucleotide variant | NM_004320.6(ATP2A1):c.2980G>A (p.Gly994Arg) | Brody myopathy [RCV002045938] | uncertain significance | 16 | 28903440 | 28903440 | Human | 1 | name |
| 151837300 | CV1469822 | single nucleotide variant | NM_004320.6(ATP2A1):c.2524G>A (p.Gly842Ser) | Brody myopathy [RCV001880936] | uncertain significance | 16 | 28902386 | 28902386 | Human | 1 | name |
| 151892271 | CV1480761 | single nucleotide variant | NM_004320.6(ATP2A1):c.1952G>A (p.Arg651His) | Brody myopathy [RCV001943938]|Inborn genetic diseases [RCV005288636] | uncertain significance | 16 | 28900768 | 28900768 | Human | 2 | name |
| 151745260 | CV1485038 | single nucleotide variant | NM_004320.6(ATP2A1):c.1545G>T (p.Lys515Asn) | Brody myopathy [RCV002006238] | uncertain significance | 16 | 28898125 | 28898125 | Human | 1 | name |
| 151734010 | CV1494320 | single nucleotide variant | NM_004320.6(ATP2A1):c.1253C>T (p.Ala418Val) | Brody myopathy [RCV001946341] | uncertain significance | 16 | 28894573 | 28894573 | Human | 1 | name |
| 151881137 | CV1504104 | single nucleotide variant | NM_004320.6(ATP2A1):c.2770C>T (p.Arg924Trp) | Brody myopathy [RCV002020181] | uncertain significance | 16 | 28903055 | 28903055 | Human | 1 | name |
| 151719329 | CV1505844 | single nucleotide variant | NM_004320.6(ATP2A1):c.2293A>G (p.Ile765Val) | Brody myopathy [RCV002039836] | uncertain significance | 16 | 28902055 | 28902055 | Human | 1 | name |
| 151849104 | CV1510749 | single nucleotide variant | NM_004320.6(ATP2A1):c.2683G>A (p.Glu895Lys) | Brody myopathy [RCV001957736] | uncertain significance | 16 | 28902850 | 28902850 | Human | 1 | name |
| 151790252 | CV1515334 | single nucleotide variant | NM_004320.6(ATP2A1):c.2153T>C (p.Ile718Thr) | Brody myopathy [RCV002027153] | uncertain significance | 16 | 28901915 | 28901915 | Human | 1 | name |
| 151812257 | CV1515910 | single nucleotide variant | NM_004320.6(ATP2A1):c.1478C>A (p.Ser493Tyr) | Brody myopathy [RCV002012554] | uncertain significance | 16 | 28898058 | 28898058 | Human | 1 | name |
| 155642450 | CV1707401 | single nucleotide variant | NM_004320.6(ATP2A1):c.2000G>C (p.Arg667Pro) | Brody myopathy [RCV002288331] | uncertain significance | 16 | 28900816 | 28900816 | Human | 1 | name |
| 155749359 | CV1775627 | single nucleotide variant | NM_004320.6(ATP2A1):c.2627G>A (p.Cys876Tyr) | Brody myopathy [RCV002304566] | uncertain significance | 16 | 28902794 | 28902794 | Human | 1 | name |
| 155803839 | CV1858405 | single nucleotide variant | NM_004320.6(ATP2A1):c.1790T>C (p.Val597Ala) | Brody myopathy [RCV003103146]|not provided [RCV002462715] | uncertain significance | 16 | 28900606 | 28900606 | Human | 1 | name |
| 155932726 | CV1866821 | single nucleotide variant | NM_004320.6(ATP2A1):c.2032C>T (p.Arg678Cys) | Brody myopathy [RCV002571552]|not provided [RCV002508373] | uncertain significance | 16 | 28900848 | 28900848 | Human | 1 | name |
| 155948594 | CV1869194 | single nucleotide variant | NM_004320.6(ATP2A1):c.2726T>C (p.Met909Thr) | Brody myopathy [RCV003074009] | uncertain significance | 16 | 28902893 | 28902893 | Human | 1 | name |
| 156006608 | CV1870436 | single nucleotide variant | NM_004320.6(ATP2A1):c.1849G>A (p.Ala617Thr) | Brody myopathy [RCV003076854] | uncertain significance | 16 | 28900665 | 28900665 | Human | 1 | name |
| 156270676 | CV1870710 | single nucleotide variant | NM_004320.6(ATP2A1):c.2906T>C (p.Met969Thr) | Brody myopathy [RCV003060704] | uncertain significance | 16 | 28903366 | 28903366 | Human | 1 | name |
| 155958823 | CV1873579 | single nucleotide variant | NM_004320.6(ATP2A1):c.1765A>G (p.Thr589Ala) | Brody myopathy [RCV003074577] | uncertain significance | 16 | 28900581 | 28900581 | Human | 1 | name |
| 156318562 | CV1876125 | single nucleotide variant | NM_004320.6(ATP2A1):c.2033G>A (p.Arg678His) | Brody myopathy [RCV003062910] | uncertain significance | 16 | 28900849 | 28900849 | Human | 1 | name |
| 156203055 | CV1877810 | single nucleotide variant | NM_004320.6(ATP2A1):c.2506C>T (p.Arg836Cys) | Brody myopathy [RCV003058229] | uncertain significance | 16 | 28902368 | 28902368 | Human | 1 | name |
| 156078574 | CV1886649 | single nucleotide variant | NM_004320.6(ATP2A1):c.1954G>A (p.Ala652Thr) | Brody myopathy [RCV003079787] | uncertain significance | 16 | 28900770 | 28900770 | Human | 1 | name |
| 156044442 | CV1887362 | single nucleotide variant | NM_004320.6(ATP2A1):c.2113G>A (p.Val705Ile) | Brody myopathy [RCV003078646] | uncertain significance | 16 | 28901875 | 28901875 | Human | 1 | name |
| 156321048 | CV1897841 | single nucleotide variant | NM_004320.6(ATP2A1):c.2507G>A (p.Arg836His) | Brody myopathy [RCV002579242] | uncertain significance | 16 | 28902369 | 28902369 | Human | 1 | name |
| 156377204 | CV1913879 | single nucleotide variant | NM_004320.6(ATP2A1):c.1643T>C (p.Val548Ala) | Brody myopathy [RCV002603680] | uncertain significance | 16 | 28898330 | 28898330 | Human | 1 | name |
| 156417995 | CV1914283 | single nucleotide variant | NM_004320.6(ATP2A1):c.2464C>T (p.Arg822Trp) | Brody myopathy [RCV002611166] | uncertain significance | 16 | 28902326 | 28902326 | Human | 1 | name |
| 156414224 | CV1915839 | single nucleotide variant | NM_004320.6(ATP2A1):c.2176G>A (p.Val726Met) | Brody myopathy [RCV002588483] | uncertain significance | 16 | 28901938 | 28901938 | Human | 1 | name |
| 156284003 | CV1929628 | single nucleotide variant | NM_004320.6(ATP2A1):c.1106T>C (p.Ile369Thr) | Brody myopathy [RCV002628536] | uncertain significance | 16 | 28894165 | 28894165 | Human | 1 | name |
| 156409894 | CV1962005 | single nucleotide variant | NM_004320.6(ATP2A1):c.1001G>A (p.Arg334Lys) | Brody myopathy [RCV002586973] | uncertain significance | 16 | 28888859 | 28888859 | Human | 1 | name |
| 156406743 | CV1963750 | single nucleotide variant | NM_004320.6(ATP2A1):c.1315G>A (p.Glu439Lys) | Brody myopathy [RCV002586003] | uncertain significance | 16 | 28894849 | 28894849 | Human | 1 | name |
| 156348059 | CV1970661 | single nucleotide variant | NM_004320.6(ATP2A1):c.2512A>G (p.Met838Val) | Brody myopathy [RCV002601628] | uncertain significance | 16 | 28902374 | 28902374 | Human | 1 | name |
| 156051250 | CV1974379 | single nucleotide variant | NM_004320.6(ATP2A1):c.2164T>C (p.Ser722Pro) | Brody myopathy [RCV002590668] | uncertain significance | 16 | 28901926 | 28901926 | Human | 1 | name |
| 156388433 | CV1983208 | single nucleotide variant | NM_004320.6(ATP2A1):c.2692A>T (p.Thr898Ser) | Brody myopathy [RCV002634780] | uncertain significance | 16 | 28902859 | 28902859 | Human | 1 | name |
| 156201917 | CV2004202 | single nucleotide variant | NM_004320.6(ATP2A1):c.1912C>T (p.Arg638Ter) | Brody myopathy [RCV002666524] | pathogenic | 16 | 28900728 | 28900728 | Human | 1 | name |
| 156235940 | CV2016218 | single nucleotide variant | NM_004320.6(ATP2A1):c.1112A>C (p.Lys371Thr) | Brody myopathy [RCV002701545] | uncertain significance | 16 | 28894171 | 28894171 | Human | 1 | name |
| 156208967 | CV2018779 | single nucleotide variant | NM_004320.6(ATP2A1):c.2558C>T (p.Ala853Val) | Brody myopathy [RCV002700553] | uncertain significance | 16 | 28902613 | 28902613 | Human | 1 | name |
| 156120438 | CV2039459 | single nucleotide variant | NM_004320.6(ATP2A1):c.1688C>T (p.Ala563Val) | Brody myopathy [RCV002800203] | uncertain significance | 16 | 28898375 | 28898375 | Human | 1 | name |
| 156263992 | CV2059522 | single nucleotide variant | NM_004320.6(ATP2A1):c.2852A>G (p.Asp951Gly) | Brody myopathy [RCV002806425] | uncertain significance | 16 | 28903137 | 28903137 | Human | 1 | name |
| 156193322 | CV2066473 | single nucleotide variant | NM_004320.6(ATP2A1):c.2450T>G (p.Met817Arg) | Brody myopathy [RCV002828682]|not provided [RCV003481336] | uncertain significance | 16 | 28902312 | 28902312 | Human | 1 | name |
| 156143282 | CV2106192 | single nucleotide variant | NM_004320.6(ATP2A1):c.2398G>A (p.Asp800Asn) | Brody myopathy [RCV002928635] | uncertain significance | 16 | 28902260 | 28902260 | Human | 1 | name |
| 155937751 | CV2110442 | single nucleotide variant | NM_004320.6(ATP2A1):c.1637T>C (p.Met546Thr) | Brody myopathy [RCV002904257] | uncertain significance | 16 | 28898324 | 28898324 | Human | 1 | name |
| 156015196 | CV2114336 | single nucleotide variant | NM_004320.6(ATP2A1):c.1613C>T (p.Thr538Met) | Brody myopathy [RCV002909327] | uncertain significance | 16 | 28898300 | 28898300 | Human | 1 | name |
| 156276974 | CV2137299 | single nucleotide variant | NM_004320.6(ATP2A1):c.1699C>G (p.Arg567Gly) | Brody myopathy [RCV003009463] | uncertain significance | 16 | 28898386 | 28898386 | Human | 1 | name |
| 155945235 | CV2139391 | single nucleotide variant | NM_004320.6(ATP2A1):c.1168G>A (p.Ala390Thr) | Brody myopathy [RCV002994303]|Inborn genetic diseases [RCV002979722] | uncertain significance | 16 | 28894227 | 28894227 | Human | 2 | name |
| 156244991 | CV2147742 | single nucleotide variant | NM_004320.6(ATP2A1):c.1974C>A (p.Phe658Leu) | Brody myopathy [RCV003026142] | uncertain significance | 16 | 28900790 | 28900790 | Human | 1 | name |
| 156248431 | CV2168862 | single nucleotide variant | NM_004320.6(ATP2A1):c.2089A>G (p.Ile697Val) | Brody myopathy [RCV003026256] | uncertain significance | 16 | 28900905 | 28900905 | Human | 1 | name |
| 156342960 | CV2176042 | single nucleotide variant | NM_004320.6(ATP2A1):c.1251T>G (p.Cys417Trp) | Brody myopathy [RCV003030386] | uncertain significance | 16 | 28894571 | 28894571 | Human | 1 | name |
| 156036392 | CV2178557 | duplication | NM_004320.6(ATP2A1):c.1575dup (p.Asn526Ter) | Brody myopathy [RCV003036392] | pathogenic | 16 | 28898261 | 28898262 | Human | 1 | name |
| 156182809 | CV2182448 | single nucleotide variant | NM_004320.6(ATP2A1):c.1938G>C (p.Glu646Asp) | Brody myopathy [RCV003057582] | uncertain significance | 16 | 28900754 | 28900754 | Human | 1 | name |
| 156182835 | CV2182449 | single nucleotide variant | NM_004320.6(ATP2A1):c.2021G>A (p.Cys674Tyr) | Brody myopathy [RCV003057583] | uncertain significance | 16 | 28900837 | 28900837 | Human | 1 | name |
| 156289641 | CV2324829 | single nucleotide variant | NM_004320.6(ATP2A1):c.2105G>A (p.Gly702Asp) | Inborn genetic diseases [RCV002935508] | uncertain significance | 16 | 28901867 | 28901867 | Human | 1 | name |
| 243064790 | CV2411960 | single nucleotide variant | NM_004320.6(ATP2A1):c.2323A>C (p.Ile775Leu) | Brody myopathy [RCV003143618] | uncertain significance | 16 | 28902185 | 28902185 | Human | 1 | name |
| 243064792 | CV2411962 | single nucleotide variant | NM_004320.6(ATP2A1):c.2012G>A (p.Arg671Gln) | Brody myopathy [RCV003143620] | uncertain significance | 16 | 28900828 | 28900828 | Human | 1 | name |
| 243064793 | CV2411963 | single nucleotide variant | NM_004320.6(ATP2A1):c.2480C>T (p.Pro827Leu) | Brody myopathy [RCV003143621] | uncertain significance | 16 | 28902342 | 28902342 | Human | 1 | name |
| 243064796 | CV2411966 | single nucleotide variant | NM_004320.6(ATP2A1):c.1526G>A (p.Gly509Asp) | Brody myopathy [RCV003143624] | uncertain significance | 16 | 28898106 | 28898106 | Human | 1 | name |
| 243064797 | CV2411967 | single nucleotide variant | NM_004320.6(ATP2A1):c.1676T>C (p.Leu559Pro) | Brody myopathy [RCV003143625] | uncertain significance | 16 | 28898363 | 28898363 | Human | 1 | name |
| 243064803 | CV2411973 | single nucleotide variant | NM_004320.6(ATP2A1):c.1778T>A (p.Phe593Tyr) | Brody myopathy [RCV003143631] | uncertain significance | 16 | 28900594 | 28900594 | Human | 1 | name |
| 243064805 | CV2411975 | single nucleotide variant | NM_004320.6(ATP2A1):c.1957T>C (p.Tyr653His) | Brody myopathy [RCV003143633] | uncertain significance | 16 | 28900773 | 28900773 | Human | 1 | name |
| 243064806 | CV2411976 | single nucleotide variant | NM_004320.6(ATP2A1):c.1051G>A (p.Asp351Asn) | Brody myopathy [RCV003143634] | uncertain significance | 16 | 28888909 | 28888909 | Human | 1 | name |
| 243064807 | CV2411977 | single nucleotide variant | NM_004320.6(ATP2A1):c.1667G>A (p.Arg556Gln) | Brody myopathy [RCV003143635] | uncertain significance | 16 | 28898354 | 28898354 | Human | 1 | name |
| 243064809 | CV2411979 | single nucleotide variant | NM_004320.6(ATP2A1):c.2431C>A (p.Pro811Thr) | Brody myopathy [RCV003143637]|Inborn genetic diseases [RCV004246102] | uncertain significance | 16 | 28902293 | 28902293 | Human | 2 | name |
| 243064810 | CV2411980 | single nucleotide variant | NM_004320.6(ATP2A1):c.1430A>G (p.Gln477Arg) | Brody myopathy [RCV003143638] | uncertain significance | 16 | 28898010 | 28898010 | Human | 1 | name |
| 243064813 | CV2411983 | single nucleotide variant | NM_004320.6(ATP2A1):c.1636A>G (p.Met546Val) | Brody myopathy [RCV003143641] | uncertain significance | 16 | 28898323 | 28898323 | Human | 1 | name |
| 243064814 | CV2411984 | single nucleotide variant | NM_004320.6(ATP2A1):c.2122G>A (p.Ala708Thr) | Brody myopathy [RCV003143642] | uncertain significance | 16 | 28901884 | 28901884 | Human | 1 | name |
| 243064827 | CV2411985 | single nucleotide variant | NM_004320.6(ATP2A1):c.1813A>G (p.Lys605Glu) | Brody myopathy [RCV003143643] | uncertain significance | 16 | 28900629 | 28900629 | Human | 1 | name |
| 243064828 | CV2411986 | single nucleotide variant | NM_004320.6(ATP2A1):c.1936G>C (p.Glu646Gln) | Brody myopathy [RCV003143644] | uncertain significance | 16 | 28900752 | 28900752 | Human | 1 | name |
| 329376466 | CV2472050 | single nucleotide variant | NM_004320.6(ATP2A1):c.2303A>G (p.Asn768Ser) | Inborn genetic diseases [RCV003211520] | uncertain significance | 16 | 28902065 | 28902065 | Human | 1 | name |
| 401771988 | CV2723013 | single nucleotide variant | NM_004320.6(ATP2A1):c.1859G>A (p.Arg620Gln) | Inborn genetic diseases [RCV003304528] | uncertain significance | 16 | 28900675 | 28900675 | Human | 1 | name |
| 401770603 | CV2726201 | single nucleotide variant | NM_004320.6(ATP2A1):c.1789G>C (p.Val597Leu) | Inborn genetic diseases [RCV003304087] | uncertain significance | 16 | 28900605 | 28900605 | Human | 1 | name |
| 401861281 | CV2779585 | single nucleotide variant | NM_004320.6(ATP2A1):c.2117A>G (p.Asn706Ser) | Inborn genetic diseases [RCV003357747] | uncertain significance | 16 | 28901879 | 28901879 | Human | 1 | name |
| 401911566 | CV2807770 | single nucleotide variant | NM_004320.6(ATP2A1):c.2203C>A (p.Leu735Met) | not provided [RCV003426645] | uncertain significance | 16 | 28901965 | 28901965 | Human | | name |
| 404977226 | CV2849680 | single nucleotide variant | NM_004320.6(ATP2A1):c.2248G>A (p.Gly750Ser) | Brody myopathy [RCV003486019] | uncertain significance | 16 | 28902010 | 28902010 | Human | 1 | name |
| 405039620 | CV2858279 | single nucleotide variant | NM_004320.6(ATP2A1):c.2702T>C (p.Leu901Pro) | Brody myopathy [RCV003517878] | uncertain significance | 16 | 28902869 | 28902869 | Human | 1 | name |
| 405044460 | CV2869539 | single nucleotide variant | NM_004320.6(ATP2A1):c.2401G>A (p.Gly801Arg) | Brody myopathy [RCV003518308] | uncertain significance | 16 | 28902263 | 28902263 | Human | 1 | name |
| 405047852 | CV2893476 | single nucleotide variant | NM_004320.6(ATP2A1):c.2075A>G (p.Gln692Arg) | Brody myopathy [RCV003518609] | uncertain significance | 16 | 28900891 | 28900891 | Human | 1 | name |
| 405058020 | CV3000391 | single nucleotide variant | NM_004320.6(ATP2A1):c.1183G>T (p.Val395Phe) | Brody myopathy [RCV003631975] | uncertain significance | 16 | 28894242 | 28894242 | Human | 1 | name |
| 405091451 | CV3167930 | single nucleotide variant | NM_004320.6(ATP2A1):c.1465C>T (p.Arg489Ter) | Brody myopathy [RCV003852320] | pathogenic | 16 | 28898045 | 28898045 | Human | 1 | name |
| 11659205 | CV324946 | single nucleotide variant | NM_004320.6(ATP2A1):c.2285G>A (p.Arg762His) | Brody myopathy [RCV000355953] | uncertain significance | 16 | 28902047 | 28902047 | Human | 1 | name |
| 8566393 | CV32842 | single nucleotide variant | NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter) | Brody myopathy [RCV000019381] | pathogenic | 16 | 28900841 | 28900841 | Human | 1 | name |
| 8566396 | CV32845 | single nucleotide variant | NM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu) | Brody myopathy [RCV000019384] | pathogenic | 16 | 28902228 | 28902228 | Human | 1 | name |
| 405665193 | CV3301284 | single nucleotide variant | NM_004320.6(ATP2A1):c.1088T>C (p.Val363Ala) | Inborn genetic diseases [RCV004418361] | uncertain significance | 16 | 28888946 | 28888946 | Human | 1 | name |
| 405665200 | CV3301285 | single nucleotide variant | NM_004320.6(ATP2A1):c.1445A>G (p.Glu482Gly) | Inborn genetic diseases [RCV004418362] | uncertain significance | 16 | 28898025 | 28898025 | Human | 1 | name |
| 405665205 | CV3301286 | single nucleotide variant | NM_004320.6(ATP2A1):c.1869G>T (p.Met623Ile) | Inborn genetic diseases [RCV004418363] | uncertain significance | 16 | 28900685 | 28900685 | Human | 1 | name |
| 405665209 | CV3301287 | single nucleotide variant | NM_004320.6(ATP2A1):c.2368G>A (p.Val790Met) | Inborn genetic diseases [RCV004418364] | uncertain significance | 16 | 28902230 | 28902230 | Human | 1 | name |
| 405665213 | CV3301288 | single nucleotide variant | NM_004320.6(ATP2A1):c.2849T>C (p.Val950Ala) | Inborn genetic diseases [RCV004418365] | uncertain significance | 16 | 28903134 | 28903134 | Human | 1 | name |
| 11621531 | CV334615 | single nucleotide variant | NM_004320.6(ATP2A1):c.1780G>A (p.Val594Met) | Brody myopathy [RCV000349891]|Inborn genetic diseases [RCV004965405]|not provided [RCV001764287] | uncertain significance | 16 | 28900596 | 28900596 | Human | 2 | name |
| 11651791 | CV334618 | single nucleotide variant | NM_004320.6(ATP2A1):c.2091C>G (p.Ile697Met) | Brody myopathy [RCV000301104] | uncertain significance | 16 | 28900907 | 28900907 | Human | 1 | name |
| 407426906 | CV3411706 | single nucleotide variant | NM_004320.6(ATP2A1):c.2149G>T (p.Gly717Cys) | not provided [RCV004590884] | uncertain significance | 16 | 28901911 | 28901911 | Human | | name |
| 11620932 | CV342634 | single nucleotide variant | NM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln) | Brody myopathy [RCV000342890]|See cases [RCV002252094]|not provided [RCV000766943]|not specified [RCV000424855] | uncertain significance | 16 | 28894528 | 28894528 | Human | 1 | name |
| 11613313 | CV342645 | single nucleotide variant | NM_004320.6(ATP2A1):c.2560T>C (p.Trp854Arg) | Brody myopathy [RCV000267137]|not provided [RCV002466488] | uncertain significance | 16 | 28902615 | 28902615 | Human | 1 | name |
| 407522049 | CV3492636 | single nucleotide variant | NM_004320.6(ATP2A1):c.1699C>T (p.Arg567Trp) | Inborn genetic diseases [RCV004677531] | uncertain significance | 16 | 28898386 | 28898386 | Human | 1 | name |
| 407522057 | CV3492640 | single nucleotide variant | NM_004320.6(ATP2A1):c.1625A>G (p.Lys542Arg) | Inborn genetic diseases [RCV004677534] | uncertain significance | 16 | 28898312 | 28898312 | Human | 1 | name |
| 407522080 | CV3492649 | single nucleotide variant | NM_004320.6(ATP2A1):c.1942G>A (p.Val648Met) | Inborn genetic diseases [RCV004677543] | uncertain significance | 16 | 28900758 | 28900758 | Human | 1 | name |
| 408374428 | CV3516117 | single nucleotide variant | NM_004320.6(ATP2A1):c.2465G>A (p.Arg822Gln) | ATP2A1-related disorder [RCV004746731] | uncertain significance | 16 | 28902327 | 28902327 | Human | | name , trait , alternate_id |
| 12740692 | CV360382 | single nucleotide variant | NM_004320.6(ATP2A1):c.2588C>G (p.Pro863Arg) | not specified [RCV000412833] | uncertain significance | 16 | 28902643 | 28902643 | Human | | name |
| 597641929 | CV3613110 | single nucleotide variant | NM_004320.6(ATP2A1):c.1426C>T (p.Arg476Cys) | Inborn genetic diseases [RCV004971825] | uncertain significance | 16 | 28898006 | 28898006 | Human | 1 | name |
| 597628113 | CV3613193 | single nucleotide variant | NM_004320.6(ATP2A1):c.1356G>T (p.Met452Ile) | Inborn genetic diseases [RCV004966733] | uncertain significance | 16 | 28894890 | 28894890 | Human | 1 | name |
| 12837597 | CV374323 | single nucleotide variant | NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met) | Brody myopathy [RCV000690255]|not provided [RCV000425443] | uncertain significance | 16 | 28894904 | 28894904 | Human | 1 | name |
| 12833551 | CV374324 | single nucleotide variant | NM_004320.6(ATP2A1):c.1540G>C (p.Val514Leu) | Brody myopathy [RCV000531927]|Inborn genetic diseases [RCV002522514]|not provided [RCV000418726] | uncertain significance | 16 | 28898120 | 28898120 | Human | 2 | name |
| 12838557 | CV374326 | single nucleotide variant | NM_004320.6(ATP2A1):c.1706C>T (p.Thr569Ile) | Brody myopathy [RCV001368165]|not provided [RCV000427187] | uncertain significance | 16 | 28898393 | 28898393 | Human | 1 | name |
| 12838530 | CV374327 | single nucleotide variant | NM_004320.6(ATP2A1):c.1948G>A (p.Asp650Asn) | Brody myopathy [RCV000527003]|not provided [RCV001721326] | benign|likely benign | 16 | 28900764 | 28900764 | Human | 1 | name |
| 12845683 | CV374336 | single nucleotide variant | NM_004320.6(ATP2A1):c.2776C>T (p.Pro926Ser) | Brody myopathy [RCV000697309]|Inborn genetic diseases [RCV002519546]|not provided [RCV000440267] | uncertain significance | 16 | 28903061 | 28903061 | Human | 2 | name |
| 12841182 | CV375065 | single nucleotide variant | NM_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 significance | 16 | 28902320 | 28902320 | Human | 2 | name , trait , alternate_id |
| 12835977 | CV375362 | single nucleotide variant | NM_004320.6(ATP2A1):c.1815G>C (p.Lys605Asn) | not provided [RCV000422607] | uncertain significance | 16 | 28900631 | 28900631 | Human | | name |
| 597889151 | CV3839578 | single nucleotide variant | NM_004320.6(ATP2A1):c.1523T>A (p.Val508Glu) | Brody myopathy [RCV005179470] | uncertain significance | 16 | 28898103 | 28898103 | Human | 1 | name |
| 598164463 | CV3920241 | single nucleotide variant | NM_004320.6(ATP2A1):c.2665G>A (p.Glu889Lys) | Inborn genetic diseases [RCV005283294] | uncertain significance | 16 | 28902832 | 28902832 | Human | 1 | name |
| 598224308 | CV3920280 | single nucleotide variant | NM_004320.6(ATP2A1):c.1823C>T (p.Thr608Met) | Inborn genetic diseases [RCV005294084] | likely benign | 16 | 28900639 | 28900639 | Human | 1 | name |
| 616933986 | CV4011962 | single nucleotide variant | NM_004320.6(ATP2A1):c.1585C>T (p.Arg529Ter) | Brody myopathy [RCV005408511] | pathogenic | 16 | 28898272 | 28898272 | Human | 1 | name |
| 12898663 | CV409605 | single nucleotide variant | NM_004320.6(ATP2A1):c.1561G>A (p.Val521Ile) | Brody myopathy [RCV000639610]|Inborn genetic diseases [RCV004023202]|not provided [RCV000478414] | uncertain significance | 16 | 28898248 | 28898248 | Human | 2 | name |
| 12899463 | CV409606 | single nucleotide variant | NM_004320.6(ATP2A1):c.1756G>A (p.Glu586Lys) | not provided [RCV000480260] | uncertain significance | 16 | 28898443 | 28898443 | Human | | name |
| 12901792 | CV409607 | single nucleotide variant | NM_004320.6(ATP2A1):c.2435C>T (p.Pro812Leu) | not provided [RCV000485562] | uncertain significance | 16 | 28902297 | 28902297 | Human | | name |
| 12893653 | CV409608 | single nucleotide variant | NM_004320.6(ATP2A1):c.2758C>T (p.Gln920Ter) | Brody myopathy [RCV000685608]|not provided [RCV000479735] | pathogenic|likely pathogenic | 16 | 28903043 | 28903043 | Human | 1 | name |
| 12906804 | CV415488 | single nucleotide variant | NM_004320.6(ATP2A1):c.1418C>T (p.Ser473Leu) | Brody myopathy [RCV001047149]|Inborn genetic diseases [RCV003168993]|not provided [RCV000489671] | uncertain significance | 16 | 28894952 | 28894952 | Human | 2 | name |
| 13212066 | CV426167 | single nucleotide variant | NM_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 significance | 16 | 28894527 | 28894527 | Human | 1 | name , trait , alternate_id |
| 13212044 | CV426169 | single nucleotide variant | NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr) | Brody myopathy [RCV001084693]|not provided [RCV000710660] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 28902591 | 28902591 | Human | 1 | name |
| 13478529 | CV441894 | single nucleotide variant | NM_004320.6(ATP2A1):c.1466G>A (p.Arg489Gln) | Brody myopathy [RCV001851424]|not provided [RCV004794401]|not specified [RCV000516708] | uncertain significance | 16 | 28898046 | 28898046 | Human | 1 | name |
| 13484602 | CV441896 | single nucleotide variant | NM_004320.6(ATP2A1):c.1858C>T (p.Arg620Trp) | not specified [RCV000518511] | uncertain significance | 16 | 28900674 | 28900674 | Human | | name |
| 13470249 | CV441897 | single nucleotide variant | NM_004320.6(ATP2A1):c.2011C>T (p.Arg671Ter) | Brody myopathy [RCV002527457]|not provided [RCV000517128] | pathogenic|likely pathogenic | 16 | 28900827 | 28900827 | Human | 1 | name |
| 13484856 | CV441898 | single nucleotide variant | NM_004320.6(ATP2A1):c.2752G>A (p.Glu918Lys) | Brody myopathy [RCV000822415]|not specified [RCV000518580] | uncertain significance | 16 | 28903037 | 28903037 | Human | 1 | name |
| 13474092 | CV465612 | single nucleotide variant | NM_004320.6(ATP2A1):c.1852G>A (p.Gly618Arg) | Brody myopathy [RCV000542646] | uncertain significance | 16 | 28900668 | 28900668 | Human | 1 | name |
| 13475568 | CV465628 | single nucleotide variant | NM_004320.6(ATP2A1):c.1976A>G (p.Asp659Gly) | Brody myopathy [RCV000551946] | uncertain significance | 16 | 28900792 | 28900792 | Human | 1 | name |
| 13474225 | CV465630 | single nucleotide variant | NM_004320.6(ATP2A1):c.2750C>G (p.Ser917Cys) | Brody myopathy [RCV000543435] | uncertain significance | 16 | 28903035 | 28903035 | Human | 1 | name |
| 13475962 | CV466325 | single nucleotide variant | NM_004320.6(ATP2A1):c.1367A>G (p.Asn456Ser) | Brody myopathy [RCV000554411]|not provided [RCV001662549] | uncertain significance | 16 | 28894901 | 28894901 | Human | 1 | name |
| 13472915 | CV466332 | single nucleotide variant | NM_004320.6(ATP2A1):c.1619C>T (p.Pro540Leu) | Brody myopathy [RCV000535094]|not provided [RCV004715282]|not specified [RCV000600170] | benign | 16 | 28898306 | 28898306 | Human | 1 | name |
| 13471533 | CV466343 | single nucleotide variant | NM_004320.6(ATP2A1):c.2077T>G (p.Ser693Ala) | Brody myopathy [RCV000525672] | uncertain significance | 16 | 28900893 | 28900893 | Human | 1 | name |
| 13473522 | CV466609 | single nucleotide variant | NM_004320.6(ATP2A1):c.1294G>A (p.Gly432Ser) | Brody myopathy [RCV000539079] | uncertain significance | 16 | 28894828 | 28894828 | Human | 1 | name |
| 13476482 | CV466611 | single nucleotide variant | NM_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 significance | 16 | 28898007 | 28898007 | Human | 1 | name , trait , alternate_id |
| 13607668 | CV530217 | single nucleotide variant | NM_004320.6(ATP2A1):c.2000G>A (p.Arg667Gln) | Brody myopathy [RCV000639612]|not provided [RCV002473081] | uncertain significance | 16 | 28900816 | 28900816 | Human | 1 | name |
| 13607669 | CV530399 | single nucleotide variant | NM_004320.6(ATP2A1):c.1400G>A (p.Arg467Lys) | Brody myopathy [RCV000639613] | uncertain significance | 16 | 28894934 | 28894934 | Human | 1 | name |
| 13808665 | CV568072 | single nucleotide variant | NM_004320.6(ATP2A1):c.1015G>A (p.Val339Ile) | Brody myopathy [RCV000701775] | uncertain significance | 16 | 28888873 | 28888873 | Human | 1 | name |
| 13815705 | CV568074 | single nucleotide variant | NM_004320.6(ATP2A1):c.2632G>A (p.Glu878Lys) | Brody myopathy [RCV000691809] | uncertain significance | 16 | 28902799 | 28902799 | Human | 1 | name |
| 13812142 | CV568076 | single nucleotide variant | NM_004320.6(ATP2A1):c.2678C>T (p.Ala893Val) | Brody myopathy [RCV000703511] | uncertain significance | 16 | 28902845 | 28902845 | Human | 1 | name |
| 13821790 | CV568077 | single nucleotide variant | NM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys) | Brody myopathy [RCV000696388] | uncertain significance | 16 | 28903404 | 28903404 | Human | 1 | name |
| 13819199 | CV570229 | single nucleotide variant | NM_004320.6(ATP2A1):c.1491T>G (p.Tyr497Ter) | Brody myopathy [RCV000694187] | pathogenic | 16 | 28898071 | 28898071 | Human | 1 | name |
| 13808244 | CV577541 | single nucleotide variant | NM_004320.6(ATP2A1):c.1283A>G (p.Asn428Ser) | Brody myopathy [RCV000816964]|not provided [RCV000710657] | uncertain significance | 16 | 28894603 | 28894603 | Human | 1 | name |
| 13808251 | CV577542 | single nucleotide variant | NM_004320.6(ATP2A1):c.2455C>T (p.Arg819Cys) | Brody myopathy [RCV003144577]|not provided [RCV000710659] | uncertain significance | 16 | 28902317 | 28902317 | Human | 1 | name |
| 14397079 | CV613031 | single nucleotide variant | NM_004320.6(ATP2A1):c.1789G>A (p.Val597Met) | not provided [RCV000762217] | uncertain significance | 16 | 28900605 | 28900605 | Human | | name |
| 14718123 | CV644554 | single nucleotide variant | NM_004320.6(ATP2A1):c.1136T>C (p.Leu379Pro) | Brody myopathy [RCV000810361] | uncertain significance | 16 | 28894195 | 28894195 | Human | 1 | name |
| 14701299 | CV644555 | single nucleotide variant | NM_004320.6(ATP2A1):c.1312G>A (p.Gly438Ser) | Brody myopathy [RCV000815497]|Inborn genetic diseases [RCV003353053] | uncertain significance | 16 | 28894846 | 28894846 | Human | 2 | name |
| 14717514 | CV644557 | single nucleotide variant | NM_004320.6(ATP2A1):c.1810C>T (p.Arg604Cys) | Brody myopathy [RCV000807952] | uncertain significance | 16 | 28900626 | 28900626 | Human | 1 | name |
| 14713474 | CV644558 | single nucleotide variant | NM_004320.6(ATP2A1):c.1909C>T (p.Arg637Trp) | Brody myopathy [RCV000793332] | uncertain significance | 16 | 28900725 | 28900725 | Human | 1 | name |
| 14715837 | CV644559 | single nucleotide variant | NM_004320.6(ATP2A1):c.1910G>A (p.Arg637Gln) | Brody myopathy [RCV000801735] | uncertain significance | 16 | 28900726 | 28900726 | Human | 1 | name |
| 14716007 | CV644561 | single nucleotide variant | NM_004320.6(ATP2A1):c.1990G>A (p.Ala664Thr) | Brody myopathy [RCV000802411] | uncertain significance | 16 | 28900806 | 28900806 | Human | 1 | name |
| 14701309 | CV644562 | single nucleotide variant | NM_004320.6(ATP2A1):c.2014C>T (p.Arg672Cys) | Brody myopathy [RCV000815610]|Inborn genetic diseases [RCV004962844] | uncertain significance | 16 | 28900830 | 28900830 | Human | 2 | name |
| 14701152 | CV644563 | single nucleotide variant | NM_004320.6(ATP2A1):c.2182A>G (p.Lys728Glu) | Brody myopathy [RCV000814179] | uncertain significance | 16 | 28901944 | 28901944 | Human | 1 | name |
| 14717566 | CV644564 | single nucleotide variant | NM_004320.6(ATP2A1):c.2239G>A (p.Val747Met) | Brody myopathy [RCV000808173] | uncertain significance | 16 | 28902001 | 28902001 | Human | 1 | name |
| 14718110 | CV644565 | single nucleotide variant | NM_004320.6(ATP2A1):c.2311G>T (p.Glu771Ter) | Brody myopathy [RCV000810209]|not provided [RCV001289247] | pathogenic|likely pathogenic | 16 | 28902073 | 28902073 | Human | 1 | name |
| 14715954 | CV644566 | single nucleotide variant | NM_004320.6(ATP2A1):c.2366C>G (p.Pro789Arg) | Brody myopathy [RCV000802040] | uncertain significance | 16 | 28902228 | 28902228 | Human | 1 | name |
| 14715030 | CV644567 | single nucleotide variant | NM_004320.6(ATP2A1):c.2371C>T (p.Gln791Ter) | Brody myopathy [RCV000798965] | pathogenic | 16 | 28902233 | 28902233 | Human | 1 | name |
| 14702331 | CV644568 | single nucleotide variant | NM_004320.6(ATP2A1):c.2414C>T (p.Thr805Ile) | Brody myopathy [RCV000823484]|Inborn genetic diseases [RCV002535987] | uncertain significance | 16 | 28902276 | 28902276 | Human | 2 | name |
| 14701234 | CV644569 | single nucleotide variant | NM_004320.6(ATP2A1):c.2462C>A (p.Pro821His) | Brody myopathy [RCV000814887] | uncertain significance | 16 | 28902324 | 28902324 | Human | 1 | name |
| 14702099 | CV644570 | single nucleotide variant | NM_004320.6(ATP2A1):c.2521G>A (p.Gly841Arg) | Brody myopathy [RCV000821683] | uncertain significance | 16 | 28902383 | 28902383 | Human | 1 | name |
| 14702077 | CV644571 | single nucleotide variant | NM_004320.6(ATP2A1):c.2545G>A (p.Val849Met) | Brody myopathy [RCV000821338] | uncertain significance | 16 | 28902600 | 28902600 | Human | 1 | name |
| 14718466 | CV644572 | single nucleotide variant | NM_004320.6(ATP2A1):c.2771G>A (p.Arg924Gln) | Brody myopathy [RCV000811574] | uncertain significance | 16 | 28903056 | 28903056 | Human | 1 | name |
| 14718456 | CV644573 | single nucleotide variant | NM_004320.6(ATP2A1):c.2958C>G (p.Phe986Leu) | Brody myopathy [RCV000811550] | uncertain significance | 16 | 28903418 | 28903418 | Human | 1 | name |
| 14715346 | CV644574 | single nucleotide variant | NM_004320.6(ATP2A1):c.2959G>A (p.Val987Ile) | Brody myopathy [RCV000800200] | uncertain significance | 16 | 28903419 | 28903419 | Human | 1 | name |
| 15125879 | CV693838 | single nucleotide variant | NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met) | Brody myopathy [RCV000875025] | likely benign|conflicting interpretations of pathogenicity | 16 | 28900582 | 28900582 | Human | 1 | name |
| 15181486 | CV740094 | single nucleotide variant | NM_004320.6(ATP2A1):c.1411T>G (p.Cys471Gly) | Brody myopathy [RCV002065759] | likely benign | 16 | 28894945 | 28894945 | Human | 1 | name |
| 26921436 | CV843709 | single nucleotide variant | NM_004320.6(ATP2A1):c.1025T>C (p.Leu342Pro) | Brody myopathy [RCV001060993]|not provided [RCV004697039] | uncertain significance | 16 | 28888883 | 28888883 | Human | 1 | name |
| 26892273 | CV843710 | single nucleotide variant | NM_004320.6(ATP2A1):c.1300T>C (p.Tyr434His) | Brody myopathy [RCV001046864]|Inborn genetic diseases [RCV004031457] | uncertain significance | 16 | 28894834 | 28894834 | Human | 2 | name |
| 26888579 | CV843711 | single nucleotide variant | NM_004320.6(ATP2A1):c.1369A>G (p.Thr457Ala) | Brody myopathy [RCV001067152] | uncertain significance | 16 | 28894903 | 28894903 | Human | 1 | name |
| 26912209 | CV843712 | single nucleotide variant | NM_004320.6(ATP2A1):c.1442A>T (p.Lys481Met) | Brody myopathy [RCV001039083]|Inborn genetic diseases [RCV002553051]|not specified [RCV002265932] | uncertain significance | 16 | 28898022 | 28898022 | Human | 2 | name |
| 26914589 | CV843713 | single nucleotide variant | NM_004320.6(ATP2A1):c.1457A>T (p.Glu486Val) | Brody myopathy [RCV001055073]|Inborn genetic diseases [RCV004963056] | uncertain significance | 16 | 28898037 | 28898037 | Human | 2 | name |
| 26906262 | CV843714 | single nucleotide variant | NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys) | Brody myopathy [RCV001037359]|not provided [RCV003482323] | uncertain significance | 16 | 28900777 | 28900777 | Human | 1 | name |
| 26900842 | CV843715 | single nucleotide variant | NM_004320.6(ATP2A1):c.2015G>A (p.Arg672His) | Brody myopathy [RCV001049680] | uncertain significance | 16 | 28900831 | 28900831 | Human | 1 | name |
| 26891318 | CV843716 | single nucleotide variant | NM_004320.6(ATP2A1):c.2183A>G (p.Lys728Arg) | Brody myopathy [RCV001046390] | uncertain significance | 16 | 28901945 | 28901945 | Human | 1 | name |
| 26901199 | CV843717 | single nucleotide variant | NM_004320.6(ATP2A1):c.2212G>A (p.Asp738Asn) | Brody myopathy [RCV001071504] | uncertain significance | 16 | 28901974 | 28901974 | Human | 1 | name |
| 26915518 | CV843718 | single nucleotide variant | NM_004320.6(ATP2A1):c.2311G>A (p.Glu771Lys) | ATP2A1-related disorder [RCV004746207]|Brody myopathy [RCV001041396]|not provided [RCV005255643] | uncertain significance | 16 | 28902073 | 28902073 | Human | 1 | name , trait , alternate_id |
| 26923571 | CV843719 | single nucleotide variant | NM_004320.6(ATP2A1):c.2429A>G (p.Asn810Ser) | Brody myopathy [RCV001064238] | uncertain significance | 16 | 28902291 | 28902291 | Human | 1 | name |
| 26907563 | CV843720 | single nucleotide variant | NM_004320.6(ATP2A1):c.2434C>T (p.Pro812Ser) | Brody myopathy [RCV001038024]|Inborn genetic diseases [RCV004031054] | uncertain significance | 16 | 28902296 | 28902296 | Human | 2 | name |
| 26886718 | CV843721 | single nucleotide variant | NM_004320.6(ATP2A1):c.2441T>C (p.Leu814Pro) | Brody myopathy [RCV001066239] | uncertain significance | 16 | 28902303 | 28902303 | Human | 1 | name |
| 26898712 | CV843722 | single nucleotide variant | NM_004320.6(ATP2A1):c.2540C>G (p.Ala847Gly) | Brody myopathy [RCV001034778] | uncertain significance | 16 | 28902595 | 28902595 | Human | 1 | name |
| 26889363 | CV843723 | single nucleotide variant | NM_004320.6(ATP2A1):c.2621T>C (p.Met874Thr) | Brody myopathy [RCV001067453] | uncertain significance | 16 | 28902788 | 28902788 | Human | 1 | name |
| 26898823 | CV843724 | single nucleotide variant | NM_004320.6(ATP2A1):c.2653G>A (p.Gly885Ser) | Brody myopathy [RCV001070776] | uncertain significance | 16 | 28902820 | 28902820 | Human | 1 | name |
| 26915297 | CV843725 | single nucleotide variant | NM_004320.6(ATP2A1):c.2710C>G (p.Leu904Val) | Brody myopathy [RCV001055612]|not provided [RCV001760001] | uncertain significance | 16 | 28902877 | 28902877 | Human | 1 | name |
| 26911440 | CV843726 | single nucleotide variant | NM_004320.6(ATP2A1):c.2840T>C (p.Ile947Thr) | Brody myopathy [RCV001038786]|not provided [RCV005093310] | uncertain significance | 16 | 28903125 | 28903125 | Human | 1 | name |
| 26889987 | CV843727 | single nucleotide variant | NM_004320.6(ATP2A1):c.2911C>T (p.Leu971Phe) | Brody myopathy [RCV001045829] | uncertain significance | 16 | 28903371 | 28903371 | Human | 1 | name |
| 26891322 | CV843728 | single nucleotide variant | NM_004320.6(ATP2A1):c.2930T>C (p.Val977Ala) | Brody myopathy [RCV001046391] | uncertain significance | 16 | 28903390 | 28903390 | Human | 1 | name |
| 26902910 | CV858305 | single nucleotide variant | NM_004320.6(ATP2A1):c.2284C>T (p.Arg762Cys) | Brody myopathy [RCV001089652] | likely pathogenic|uncertain significance | 16 | 28902046 | 28902046 | Human | 1 | name |
| 28881613 | CV875079 | single nucleotide variant | NM_004320.6(ATP2A1):c.1936G>A (p.Glu646Lys) | Brody myopathy [RCV001117887] | uncertain significance | 16 | 28900752 | 28900752 | Human | 1 | name |
| 28886776 | CV875080 | single nucleotide variant | NM_004320.6(ATP2A1):c.2456G>A (p.Arg819His) | Brody myopathy [RCV001119443] | uncertain significance | 16 | 28902318 | 28902318 | Human | 1 | name |
| 28892701 | CV875081 | single nucleotide variant | NM_004320.6(ATP2A1):c.2630C>T (p.Thr877Ile) | Brody myopathy [RCV001121435] | uncertain significance | 16 | 28902797 | 28902797 | Human | 1 | name |
| 28892704 | CV875082 | single nucleotide variant | NM_004320.6(ATP2A1):c.2959G>C (p.Val987Leu) | Brody myopathy [RCV001121436] | uncertain significance | 16 | 28903419 | 28903419 | Human | 1 | name |
| 38494209 | CV927762 | single nucleotide variant | NM_004320.6(ATP2A1):c.1666C>T (p.Arg556Trp) | Brody myopathy [RCV001224806]|not provided [RCV004778015] | uncertain significance | 16 | 28898353 | 28898353 | Human | 1 | name |
| 38487160 | CV927763 | single nucleotide variant | NM_004320.6(ATP2A1):c.1712C>T (p.Pro571Leu) | Brody myopathy [RCV001220636] | uncertain significance | 16 | 28898399 | 28898399 | Human | 1 | name |
| 38493108 | CV927764 | single nucleotide variant | NM_004320.6(ATP2A1):c.1717C>T (p.Arg573Ter) | Brody myopathy [RCV001224046] | pathogenic | 16 | 28898404 | 28898404 | Human | 1 | name |
| 38489045 | CV927765 | single nucleotide variant | NM_004320.6(ATP2A1):c.1780G>C (p.Val594Leu) | Brody myopathy [RCV001221501] | uncertain significance | 16 | 28900596 | 28900596 | Human | 1 | name |
| 38475013 | CV927766 | single nucleotide variant | NM_004320.6(ATP2A1):c.2932A>G (p.Ile978Val) | Brody myopathy [RCV001214986]|not specified [RCV003398949] | uncertain significance | 16 | 28903392 | 28903392 | Human | 1 | name |
| 38483969 | CV937402 | single nucleotide variant | NM_004320.6(ATP2A1):c.1552C>T (p.Pro518Ser) | Brody myopathy [RCV001207850] | uncertain significance | 16 | 28898239 | 28898239 | Human | 1 | name |
| 38457099 | CV937403 | single nucleotide variant | NM_004320.6(ATP2A1):c.1975G>A (p.Asp659Asn) | Brody myopathy [RCV001211031] | uncertain significance | 16 | 28900791 | 28900791 | Human | 1 | name |
| 38495190 | CV949352 | single nucleotide variant | NM_004320.6(ATP2A1):c.1570C>T (p.Arg524Cys) | Brody myopathy [RCV001225560] | uncertain significance | 16 | 28898257 | 28898257 | Human | 1 | name |
| 38477303 | CV949353 | single nucleotide variant | NM_004320.6(ATP2A1):c.1601G>A (p.Arg534Gln) | Brody myopathy [RCV001233428] | uncertain significance | 16 | 28898288 | 28898288 | Human | 1 | name |
| 38486788 | CV949354 | single nucleotide variant | NM_004320.6(ATP2A1):c.1712C>A (p.Pro571Gln) | Brody myopathy [RCV001237317]|Inborn genetic diseases [RCV004963266] | uncertain significance | 16 | 28898399 | 28898399 | Human | 2 | name |
| 38495940 | CV949355 | single nucleotide variant | NM_004320.6(ATP2A1):c.2423G>A (p.Gly808Asp) | Brody myopathy [RCV001226083] | uncertain significance | 16 | 28902285 | 28902285 | Human | 1 | name |
| 38460898 | CV949356 | single nucleotide variant | NM_004320.6(ATP2A1):c.2695A>G (p.Met899Val) | Brody myopathy [RCV001229434] | uncertain significance | 16 | 28902862 | 28902862 | Human | 1 | name |
| 38457925 | CV957726 | single nucleotide variant | NM_004320.6(ATP2A1):c.1285G>A (p.Glu429Lys) | Brody myopathy [RCV001246122] | uncertain significance | 16 | 28894605 | 28894605 | Human | 1 | name |
| 38497799 | CV957727 | single nucleotide variant | NM_004320.6(ATP2A1):c.1567G>A (p.Asp523Asn) | Brody myopathy [RCV001243414] | uncertain significance | 16 | 28898254 | 28898254 | Human | 1 | name |
| 38492191 | CV957728 | single nucleotide variant | NM_004320.6(ATP2A1):c.1741T>C (p.Ser581Pro) | Brody myopathy [RCV001239794] | uncertain significance | 16 | 28898428 | 28898428 | Human | 1 | name |
| 38464509 | CV957729 | single nucleotide variant | NM_004320.6(ATP2A1):c.1843C>T (p.Arg615Cys) | Brody myopathy [RCV001247407] | uncertain significance | 16 | 28900659 | 28900659 | Human | 1 | name |
| 126757722 | CV996849 | single nucleotide variant | NM_004320.6(ATP2A1):c.1786G>A (p.Val596Ile) | Brody myopathy [RCV001298972]|Inborn genetic diseases [RCV002541878] | uncertain significance | 16 | 28900602 | 28900602 | Human | 2 | name |
| 126734972 | CV996850 | single nucleotide variant | NM_004320.6(ATP2A1):c.2045C>T (p.Ser682Leu) | Brody myopathy [RCV001304531]|not provided [RCV004697103] | uncertain significance | 16 | 28900861 | 28900861 | Human | 1 | name |
| 126733589 | CV996851 | single nucleotide variant | NM_004320.6(ATP2A1):c.2146A>G (p.Ile716Val) | Brody myopathy [RCV001304297] | uncertain significance | 16 | 28901908 | 28901908 | Human | 1 | name |
| 126759873 | CV996852 | single nucleotide variant | NM_004320.6(ATP2A1):c.2333C>T (p.Thr778Ile) | Brody myopathy [RCV001299621] | uncertain significance | 16 | 28902195 | 28902195 | Human | 1 | name |
| 126764624 | CV996853 | single nucleotide variant | NM_004320.6(ATP2A1):c.2620A>G (p.Met874Val) | Brody myopathy [RCV001301163] | uncertain significance | 16 | 28902787 | 28902787 | Human | 1 | name |
| 126732325 | CV996854 | single nucleotide variant | NM_004320.6(ATP2A1):c.2902C>T (p.Leu968Phe) | Brody myopathy [RCV001304066]|not provided [RCV003482362] | uncertain significance | 16 | 28903362 | 28903362 | Human | 1 | name |
| 13805953 | CV570087 | microsatellite | NM_004320.6(ATP2A1):c.195CCT[1] (p.Leu67del) | Brody myopathy [RCV000700373]|not provided [RCV001726309] | likely pathogenic|uncertain significance | 16 | 28879557 | 28879559 | Human | | name |
| 150502403 | CV1241242 | insertion | NM_004320.6(ATP2A1):c.1765-140_1765-139insTTG | not provided [RCV001657138] | benign | 16 | 28900441 | 28900442 | Human | | name |
| 151827922 | CV1396458 | inversion | NM_004320.6(ATP2A1):c.678_679inv (p.Gly227Ser) | Brody myopathy [RCV001934771] | uncertain significance | 16 | 28887472 | 28887473 | Human | | name |
| 151860752 | CV1400304 | microsatellite | NM_004320.6(ATP2A1):c.1814AGG[1] (p.Glu606del) | Brody myopathy [RCV001980089] | uncertain significance | 16 | 28900630 | 28900632 | Human | | name |
| 155945310 | CV1935584 | microsatellite | NM_004320.6(ATP2A1):c.2261ACA[2] (p.Asn756del) | not provided [RCV002511332] | uncertain significance | 16 | 28902023 | 28902025 | Human | | name |
| 13808891 | CV570233 | microsatellite | NM_004320.6(ATP2A1):c.2209GAC[1] (p.Asp738del) | Brody myopathy [RCV000687494] | uncertain significance | 16 | 28901971 | 28901973 | Human | | name |
| 126731094 | CV1021439 | microsatellite | NM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs) | Brody myopathy [RCV001333623] | pathogenic | 16 | 28898356 | 28898357 | Human | | name |
| 151761600 | CV1358253 | deletion | NM_004320.6(ATP2A1):c.2056_2057del (p.Lys686fs) | Brody myopathy [RCV001928587] | pathogenic | 16 | 28900872 | 28900873 | Human | 1 | name |
| 151765169 | CV1393686 | deletion | NM_004320.6(ATP2A1):c.2857_2858del (p.Leu953fs) | Brody myopathy [RCV002008303] | uncertain significance | 16 | 28903142 | 28903143 | Human | 1 | name |
| 151827285 | CV1438615 | deletion | NM_004320.6(ATP2A1):c.2615_2618del (p.His872fs) | Brody myopathy [RCV001993358] | pathogenic | 16 | 28902782 | 28902785 | Human | 1 | name |
| 597830445 | CV3743012 | deletion | NM_004320.6(ATP2A1):c.1553_1554del (p.Pro518fs) | Brody myopathy [RCV005062020] | pathogenic | 16 | 28898240 | 28898241 | Human | 1 | name |
| 13470565 | CV441895 | microsatellite | NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs) | ATP2A1-related disorder [RCV003409731]|Brody myopathy [RCV000550407]|not provided [RCV000517623] | pathogenic | 16 | 28898427 | 28898428 | Human | | name , trait , alternate_id |
| 156366327 | CV1908512 | indel | NM_004320.6(ATP2A1):c.1130_1131delinsTT (p.Cys377Phe) | Brody myopathy [RCV002582089] | uncertain significance | 16 | 28894189 | 28894190 | Human | | name |
| 156142956 | CV2123858 | indel | NM_004320.6(ATP2A1):c.1817_1818delinsTC (p.Glu606Val) | Brody myopathy [RCV002982381] | uncertain significance | 16 | 28900633 | 28900634 | Human | | name |
| 14702160 | CV644556 | indel | NM_004320.6(ATP2A1):c.1384_1385delinsGC (p.Leu462Ala) | Brody myopathy [RCV000822353] | uncertain significance | 16 | 28894918 | 28894919 | Human | | name |
| 13472869 | CV466603 | indel | NM_004320.6(ATP2A1):c.909_920delinsACGGCATA (p.Val304fs) | Brody myopathy [RCV000534880] | pathogenic | 16 | 28887703 | 28887714 | Human | | name |
| 402510589 | CV3178312 | microsatellite | NM_004320.6(ATP2A1):c.2664_2665del (p.Cys888_Glu889delinsTer) | Brody myopathy [RCV003878929] | pathogenic | 16 | 28902829 | 28902830 | Human | | name |