| 405656891 | CV3288375 | single nucleotide variant | NM_024641.4(MANEA):c.14G>A (p.Arg5Gln) | not specified [RCV004415971] | uncertain significance | 6 | 95586453 | 95586453 | Human | | name |
| 401895836 | CV2768861 | single nucleotide variant | NM_024641.4(MANEA):c.74G>A (p.Gly25Asp) | not specified [RCV004346974] | uncertain significance | 6 | 95586513 | 95586513 | Human | | name |
| 407493402 | CV3446337 | single nucleotide variant | NM_024641.4(MANEA):c.46A>G (p.Ile16Val) | not specified [RCV004642727] | uncertain significance | 6 | 95586485 | 95586485 | Human | | name |
| 597624079 | CV3702804 | single nucleotide variant | NM_024641.4(MANEA):c.78A>T (p.Leu26Phe) | not specified [RCV004937098] | uncertain significance | 6 | 95586517 | 95586517 | Human | | name |
| 156118041 | CV2209217 | single nucleotide variant | NM_024641.4(MANEA):c.229A>C (p.Lys77Gln) | not specified [RCV004093411] | uncertain significance | 6 | 95586668 | 95586668 | Human | | name |
| 156097772 | CV2310295 | single nucleotide variant | NM_024641.4(MANEA):c.244A>C (p.Thr82Pro) | not specified [RCV004157038] | uncertain significance | 6 | 95586683 | 95586683 | Human | | name |
| 156263323 | CV2368639 | single nucleotide variant | NM_024641.4(MANEA):c.100G>T (p.Ala34Ser) | not specified [RCV004221415] | uncertain significance | 6 | 95586539 | 95586539 | Human | | name |
| 156168769 | CV2399185 | single nucleotide variant | NM_024641.4(MANEA):c.113C>T (p.Ala38Val) | not specified [RCV004246615] | uncertain significance | 6 | 95586552 | 95586552 | Human | | name |
| 329399358 | CV2446843 | single nucleotide variant | NM_024641.4(MANEA):c.233G>C (p.Ser78Thr) | not specified [RCV004257697] | uncertain significance | 6 | 95586672 | 95586672 | Human | | name |
| 405656895 | CV3288376 | single nucleotide variant | NM_024641.4(MANEA):c.202A>G (p.Asn68Asp) | not specified [RCV004415972] | uncertain significance | 6 | 95586641 | 95586641 | Human | | name |
| 597624075 | CV3702800 | single nucleotide variant | NM_024641.4(MANEA):c.260A>G (p.Lys87Arg) | not specified [RCV004937094] | uncertain significance | 6 | 95586699 | 95586699 | Human | | name |
| 156232776 | CV2227705 | single nucleotide variant | NM_024641.4(MANEA):c.862C>T (p.Arg288Trp) | not specified [RCV004094095] | uncertain significance | 6 | 95605878 | 95605878 | Human | | name |
| 156334175 | CV2230885 | single nucleotide variant | NM_024641.4(MANEA):c.875A>G (p.Asn292Ser) | not specified [RCV004092361] | uncertain significance | 6 | 95605891 | 95605891 | Human | | name |
| 156064553 | CV2316163 | single nucleotide variant | NM_024641.4(MANEA):c.398C>G (p.Pro133Arg) | not specified [RCV004174208] | uncertain significance | 6 | 95586837 | 95586837 | Human | | name |
| 156356165 | CV2320737 | single nucleotide variant | NM_024641.4(MANEA):c.701T>C (p.Met234Thr) | not specified [RCV004179085] | uncertain significance | 6 | 95604873 | 95604873 | Human | | name |
| 156248951 | CV2394028 | single nucleotide variant | NM_024641.4(MANEA):c.767C>T (p.Thr256Met) | not specified [RCV004236246] | uncertain significance | 6 | 95605783 | 95605783 | Human | | name |
| 156094791 | CV2398878 | single nucleotide variant | NM_024641.4(MANEA):c.419C>T (p.Pro140Leu) | not specified [RCV004245198] | uncertain significance | 6 | 95586858 | 95586858 | Human | | name |
| 329382708 | CV2424529 | single nucleotide variant | NM_024641.4(MANEA):c.365A>G (p.His122Arg) | not specified [RCV004252411] | uncertain significance | 6 | 95586804 | 95586804 | Human | | name |
| 329360185 | CV2446630 | single nucleotide variant | NM_024641.4(MANEA):c.784C>T (p.Leu262Phe) | not specified [RCV004251518] | uncertain significance | 6 | 95605800 | 95605800 | Human | | name |
| 329389169 | CV2448633 | single nucleotide variant | NM_024641.4(MANEA):c.502G>C (p.Val168Leu) | not specified [RCV004259303] | uncertain significance | 6 | 95586941 | 95586941 | Human | | name |
| 401757709 | CV2707925 | single nucleotide variant | NM_024641.4(MANEA):c.835G>A (p.Ala279Thr) | not specified [RCV004309190] | uncertain significance | 6 | 95605851 | 95605851 | Human | | name |
| 401880253 | CV2783146 | single nucleotide variant | NM_024641.4(MANEA):c.979A>G (p.Asn327Asp) | not specified [RCV004363496] | uncertain significance | 6 | 95605995 | 95605995 | Human | | name |
| 405656899 | CV3288377 | single nucleotide variant | NM_024641.4(MANEA):c.356A>T (p.Lys119Ile) | not specified [RCV004415973] | uncertain significance | 6 | 95586795 | 95586795 | Human | | name |
| 405656903 | CV3288378 | single nucleotide variant | NM_024641.4(MANEA):c.431A>T (p.His144Leu) | not specified [RCV004415974] | uncertain significance | 6 | 95586870 | 95586870 | Human | | name |
| 405656906 | CV3288379 | single nucleotide variant | NM_024641.4(MANEA):c.432C>G (p.His144Gln) | not specified [RCV004415975] | uncertain significance | 6 | 95586871 | 95586871 | Human | | name |
| 405656909 | CV3288380 | single nucleotide variant | NM_024641.4(MANEA):c.449T>C (p.Ile150Thr) | not specified [RCV004415976] | uncertain significance | 6 | 95586888 | 95586888 | Human | | name |
| 405656913 | CV3288381 | single nucleotide variant | NM_024641.4(MANEA):c.455C>T (p.Ser152Phe) | not specified [RCV004415977] | uncertain significance | 6 | 95586894 | 95586894 | Human | | name |
| 405656917 | CV3288382 | single nucleotide variant | NM_024641.4(MANEA):c.491G>A (p.Arg164Gln) | not specified [RCV004415978] | uncertain significance | 6 | 95586930 | 95586930 | Human | | name |
| 405657123 | CV3288383 | single nucleotide variant | NM_024641.4(MANEA):c.535G>T (p.Ala179Ser) | not specified [RCV004415979] | uncertain significance | 6 | 95586974 | 95586974 | Human | | name |
| 405657120 | CV3288384 | single nucleotide variant | NM_024641.4(MANEA):c.593G>A (p.Gly198Glu) | not specified [RCV004415980] | uncertain significance | 6 | 95596785 | 95596785 | Human | | name |
| 405657114 | CV3288386 | single nucleotide variant | NM_024641.4(MANEA):c.947G>C (p.Gly316Ala) | not specified [RCV004415982] | uncertain significance | 6 | 95605963 | 95605963 | Human | | name |
| 407493397 | CV3446336 | single nucleotide variant | NM_024641.4(MANEA):c.767C>G (p.Thr256Arg) | not specified [RCV004642726] | uncertain significance | 6 | 95605783 | 95605783 | Human | | name |
| 407493406 | CV3446338 | single nucleotide variant | NM_024641.4(MANEA):c.668T>G (p.Ile223Arg) | not specified [RCV004642728] | uncertain significance | 6 | 95604840 | 95604840 | Human | | name |
| 407493414 | CV3446340 | single nucleotide variant | NM_024641.4(MANEA):c.700A>G (p.Met234Val) | not specified [RCV004642730] | uncertain significance | 6 | 95604872 | 95604872 | Human | | name |
| 597624072 | CV3702797 | single nucleotide variant | NM_024641.4(MANEA):c.557T>C (p.Leu186Pro) | not specified [RCV004937091] | uncertain significance | 6 | 95596749 | 95596749 | Human | | name |
| 597624076 | CV3702801 | single nucleotide variant | NM_024641.4(MANEA):c.554C>G (p.Ala185Gly) | not specified [RCV004937095] | uncertain significance | 6 | 95596746 | 95596746 | Human | | name |
| 597624078 | CV3702803 | single nucleotide variant | NM_024641.4(MANEA):c.725T>A (p.Ile242Lys) | not specified [RCV004937097] | uncertain significance | 6 | 95604897 | 95604897 | Human | | name |
| 598185170 | CV3988477 | single nucleotide variant | NM_024641.4(MANEA):c.412A>G (p.Asn138Asp) | not specified [RCV005373206] | uncertain significance | 6 | 95586851 | 95586851 | Human | | name |
| 155934160 | CV2229095 | single nucleotide variant | NM_024641.4(MANEA):c.1267G>C (p.Val423Leu) | not specified [RCV004098865] | uncertain significance | 6 | 95606283 | 95606283 | Human | | name |
| 156077528 | CV2230293 | single nucleotide variant | NM_024641.4(MANEA):c.1029A>T (p.Leu343Phe) | not specified [RCV004099905] | uncertain significance | 6 | 95606045 | 95606045 | Human | | name |
| 401736850 | CV2699612 | single nucleotide variant | NM_024641.4(MANEA):c.1264A>G (p.Thr422Ala) | not specified [RCV004299799] | uncertain significance | 6 | 95606280 | 95606280 | Human | | name |
| 405656888 | CV3288374 | single nucleotide variant | NM_024641.4(MANEA):c.1309G>C (p.Glu437Gln) | not specified [RCV004415970] | uncertain significance | 6 | 95606325 | 95606325 | Human | | name |
| 407493410 | CV3446339 | single nucleotide variant | NM_024641.4(MANEA):c.1234G>C (p.Glu412Gln) | not specified [RCV004642729] | uncertain significance | 6 | 95606250 | 95606250 | Human | | name |
| 597624074 | CV3702799 | single nucleotide variant | NM_024641.4(MANEA):c.1088C>G (p.Thr363Ser) | not specified [RCV004937093] | uncertain significance | 6 | 95606104 | 95606104 | Human | | name |
| 597624077 | CV3702802 | single nucleotide variant | NM_024641.4(MANEA):c.1243G>A (p.Val415Ile) | not specified [RCV004937096] | uncertain significance | 6 | 95606259 | 95606259 | Human | | name |
| 598185163 | CV3988476 | single nucleotide variant | NM_024641.4(MANEA):c.1202C>G (p.Ser401Cys) | not specified [RCV005373205] | uncertain significance | 6 | 95606218 | 95606218 | Human | | name |
| 598165743 | CV3988479 | single nucleotide variant | NM_024641.4(MANEA):c.1282C>T (p.Arg428Cys) | not specified [RCV005369224] | uncertain significance | 6 | 95606298 | 95606298 | Human | | name |
| 598165751 | CV3988480 | single nucleotide variant | NM_024641.4(MANEA):c.1273C>G (p.Leu425Val) | not specified [RCV005369225] | uncertain significance | 6 | 95606289 | 95606289 | Human | | name |
| 598165757 | CV3988481 | single nucleotide variant | NM_024641.4(MANEA):c.1112A>C (p.Gln371Pro) | not specified [RCV005369226] | uncertain significance | 6 | 95606128 | 95606128 | Human | | name |
| 598165766 | CV3988482 | single nucleotide variant | NM_024641.4(MANEA):c.1195A>G (p.Ile399Val) | not specified [RCV005369227] | uncertain significance | 6 | 95606211 | 95606211 | Human | | name |
| 38598728 | CV964800 | duplication | NM_001113482.2(MANEAL):c.446dup (p.Asp150fs) | MANEAL-associated disorder [RCV001254029] | likely pathogenic | 1 | 37794622 | 37794623 | Human | | name , trait |
| 156333126 | CV2335933 | single nucleotide variant | NM_001113482.2(MANEAL):c.22G>A (p.Ala8Thr) | not specified [RCV004189544] | uncertain significance | 1 | 37794204 | 37794204 | Human | | name |
| 401762719 | CV2720043 | single nucleotide variant | NM_001113482.2(MANEAL):c.615C>T (p.Asp205=) | not specified [RCV004323618] | likely benign | 1 | 37795801 | 37795801 | Human | | name |
| 156109101 | CV2211129 | single nucleotide variant | NM_001113482.2(MANEAL):c.236A>C (p.Asp79Ala) | not specified [RCV004088300] | likely benign | 1 | 37794418 | 37794418 | Human | | name |
| 156096438 | CV2253119 | single nucleotide variant | NM_001113482.2(MANEAL):c.200C>G (p.Ala67Gly) | not specified [RCV004120899] | uncertain significance | 1 | 37794382 | 37794382 | Human | | name |
| 155928170 | CV2346502 | single nucleotide variant | NM_001113482.2(MANEAL):c.121G>A (p.Gly41Ser) | not specified [RCV004206424] | uncertain significance | 1 | 37794303 | 37794303 | Human | | name |
| 329369336 | CV2450609 | single nucleotide variant | NM_001113482.2(MANEAL):c.182C>A (p.Ala61Asp) | not specified [RCV004265502] | uncertain significance | 1 | 37794364 | 37794364 | Human | | name |
| 405657099 | CV3288391 | single nucleotide variant | NM_001113482.2(MANEAL):c.263C>A (p.Pro88His) | not specified [RCV004415987] | uncertain significance | 1 | 37794445 | 37794445 | Human | | name |
| 407493439 | CV3446347 | single nucleotide variant | NM_001113482.2(MANEAL):c.272C>T (p.Ala91Val) | not specified [RCV004642736] | uncertain significance | 1 | 37794454 | 37794454 | Human | | name |
| 156397330 | CV2200297 | single nucleotide variant | NM_001113482.2(MANEAL):c.505G>C (p.Glu169Gln) | not specified [RCV004076634] | uncertain significance | 1 | 37794687 | 37794687 | Human | | name |
| 155968383 | CV2234291 | single nucleotide variant | NM_001113482.2(MANEAL):c.949G>A (p.Ala317Thr) | not specified [RCV004106357] | uncertain significance | 1 | 37799778 | 37799778 | Human | | name |
| 155920118 | CV2279542 | single nucleotide variant | NM_001113482.2(MANEAL):c.884C>T (p.Thr295Met) | not specified [RCV004142055] | uncertain significance | 1 | 37799713 | 37799713 | Human | | name |
| 156092741 | CV2300163 | single nucleotide variant | NM_001113482.2(MANEAL):c.365A>G (p.Tyr122Cys) | not specified [RCV004151353] | uncertain significance | 1 | 37794547 | 37794547 | Human | | name |
| 156059667 | CV2323031 | single nucleotide variant | NM_001113482.2(MANEAL):c.635A>G (p.Asp212Gly) | not specified [RCV004185456] | uncertain significance | 1 | 37795821 | 37795821 | Human | | name |
| 156164427 | CV2323672 | single nucleotide variant | NM_001113482.2(MANEAL):c.986A>G (p.Asn329Ser) | not specified [RCV004165851] | uncertain significance | 1 | 37799815 | 37799815 | Human | | name |
| 156282744 | CV2348881 | single nucleotide variant | NM_001113482.2(MANEAL):c.352C>T (p.Arg118Cys) | not specified [RCV004603328] | uncertain significance | 1 | 37794534 | 37794534 | Human | | name |
| 329372575 | CV2451551 | single nucleotide variant | NM_001113482.2(MANEAL):c.763C>T (p.Arg255Cys) | not specified [RCV004274490] | uncertain significance | 1 | 37799592 | 37799592 | Human | | name |
| 329387834 | CV2471029 | single nucleotide variant | NM_001113482.2(MANEAL):c.806T>A (p.Ile269Asn) | not specified [RCV004277992] | uncertain significance | 1 | 37799635 | 37799635 | Human | | name |
| 401747146 | CV2692079 | single nucleotide variant | NM_001113482.2(MANEAL):c.841G>T (p.Ala281Ser) | not specified [RCV004301794] | uncertain significance | 1 | 37799670 | 37799670 | Human | | name |
| 401868400 | CV2767226 | single nucleotide variant | NM_001113482.2(MANEAL):c.966G>A (p.Met322Ile) | not specified [RCV004349405] | uncertain significance | 1 | 37799795 | 37799795 | Human | | name |
| 401865732 | CV2778968 | single nucleotide variant | NM_001113482.2(MANEAL):c.646C>G (p.Gln216Glu) | not specified [RCV004348627] | uncertain significance | 1 | 37795832 | 37795832 | Human | | name |
| 401872364 | CV2779619 | single nucleotide variant | NM_001113482.2(MANEAL):c.908C>T (p.Ala303Val) | not specified [RCV004351324] | uncertain significance | 1 | 37799737 | 37799737 | Human | | name |
| 401866617 | CV2782895 | single nucleotide variant | NM_001113482.2(MANEAL):c.399G>T (p.Trp133Cys) | not specified [RCV004361698] | uncertain significance | 1 | 37794581 | 37794581 | Human | | name |
| 405657096 | CV3288392 | single nucleotide variant | NM_001113482.2(MANEAL):c.742G>C (p.Gly248Arg) | not specified [RCV004415988] | uncertain significance | 1 | 37799571 | 37799571 | Human | | name |
| 405657094 | CV3288393 | single nucleotide variant | NM_001113482.2(MANEAL):c.748C>T (p.His250Tyr) | not specified [RCV004415989] | uncertain significance | 1 | 37799577 | 37799577 | Human | | name |
| 405657089 | CV3288394 | single nucleotide variant | NM_001113482.2(MANEAL):c.749A>G (p.His250Arg) | not specified [RCV004415990] | uncertain significance | 1 | 37799578 | 37799578 | Human | | name |
| 407493418 | CV3446341 | single nucleotide variant | NM_001113482.2(MANEAL):c.305A>T (p.Tyr102Phe) | not specified [RCV004642731] | uncertain significance | 1 | 37794487 | 37794487 | Human | | name |
| 407493423 | CV3446342 | single nucleotide variant | NM_001113482.2(MANEAL):c.710A>G (p.His237Arg) | not specified [RCV004642732] | uncertain significance | 1 | 37796793 | 37796793 | Human | | name |
| 407493430 | CV3446344 | single nucleotide variant | NM_001113482.2(MANEAL):c.298C>A (p.Arg100Ser) | not specified [RCV004642734] | likely benign | 1 | 37794480 | 37794480 | Human | | name |
| 598185176 | CV3988483 | single nucleotide variant | NM_001113482.2(MANEAL):c.824C>T (p.Thr275Met) | not specified [RCV005373207] | uncertain significance | 1 | 37799653 | 37799653 | Human | | name |
| 598165772 | CV3988484 | single nucleotide variant | NM_001113482.2(MANEAL):c.921G>C (p.Glu307Asp) | not specified [RCV005369228] | uncertain significance | 1 | 37799750 | 37799750 | Human | | name |
| 598185183 | CV3988485 | single nucleotide variant | NM_001113482.2(MANEAL):c.470A>T (p.Tyr157Phe) | not specified [RCV005373208] | uncertain significance | 1 | 37794652 | 37794652 | Human | | name |
| 598185195 | CV3988488 | single nucleotide variant | NM_001113482.2(MANEAL):c.679C>A (p.Pro227Thr) | not specified [RCV005373210] | uncertain significance | 1 | 37796762 | 37796762 | Human | | name |
| 156397946 | CV2194001 | single nucleotide variant | NM_001113482.2(MANEAL):c.1195G>A (p.Val399Ile) | not specified [RCV004076769] | uncertain significance | 1 | 37800024 | 37800024 | Human | | name |
| 156025747 | CV2274011 | single nucleotide variant | NM_001113482.2(MANEAL):c.1207T>G (p.Ser403Ala) | not specified [RCV004134399] | uncertain significance | 1 | 37800036 | 37800036 | Human | | name |
| 156347321 | CV2349577 | single nucleotide variant | NM_001113482.2(MANEAL):c.1049A>G (p.Asn350Ser) | not specified [RCV004204004] | uncertain significance | 1 | 37799878 | 37799878 | Human | | name |
| 155968239 | CV2391435 | single nucleotide variant | NM_001113482.2(MANEAL):c.1334C>T (p.Ala445Val) | not specified [RCV004239830] | uncertain significance | 1 | 37800163 | 37800163 | Human | | name |
| 329361216 | CV2459499 | single nucleotide variant | NM_001113482.2(MANEAL):c.1126C>T (p.Arg376Cys) | not specified [RCV004276963] | uncertain significance | 1 | 37799955 | 37799955 | Human | | name |
| 329387832 | CV2471028 | single nucleotide variant | NM_001113482.2(MANEAL):c.1184G>A (p.Arg395Lys) | not specified [RCV004277991] | uncertain significance | 1 | 37800013 | 37800013 | Human | | name |
| 401750066 | CV2695925 | single nucleotide variant | NM_001113482.2(MANEAL):c.1157C>T (p.Thr386Met) | not specified [RCV004308198] | uncertain significance | 1 | 37799986 | 37799986 | Human | | name |
| 405657111 | CV3288387 | single nucleotide variant | NM_001113482.2(MANEAL):c.1034A>G (p.Asn345Ser) | not specified [RCV004415983] | uncertain significance | 1 | 37799863 | 37799863 | Human | | name |
| 405657109 | CV3288388 | single nucleotide variant | NM_001113482.2(MANEAL):c.1088T>C (p.Ile363Thr) | not specified [RCV004415984] | uncertain significance | 1 | 37799917 | 37799917 | Human | | name |
| 405657105 | CV3288389 | single nucleotide variant | NM_001113482.2(MANEAL):c.1090G>A (p.Asp364Asn) | not specified [RCV004415985] | uncertain significance | 1 | 37799919 | 37799919 | Human | | name |
| 405657102 | CV3288390 | single nucleotide variant | NM_001113482.2(MANEAL):c.1186C>T (p.Pro396Ser) | not specified [RCV004415986] | uncertain significance | 1 | 37800015 | 37800015 | Human | | name |
| 407493434 | CV3446345 | single nucleotide variant | NM_001113482.2(MANEAL):c.1189G>A (p.Glu397Lys) | not specified [RCV004642735] | uncertain significance | 1 | 37800018 | 37800018 | Human | | name |
| 407468921 | CV3446346 | single nucleotide variant | NM_001113482.2(MANEAL):c.1051A>C (p.Asn351His) | not specified [RCV004636448] | uncertain significance | 1 | 37799880 | 37799880 | Human | | name |
| 597624080 | CV3702805 | single nucleotide variant | NM_001113482.2(MANEAL):c.1087A>G (p.Ile363Val) | not specified [RCV004937099] | uncertain significance | 1 | 37799916 | 37799916 | Human | | name |
| 598165778 | CV3988486 | single nucleotide variant | NM_001113482.2(MANEAL):c.1036T>G (p.Phe346Val) | not specified [RCV005369229] | uncertain significance | 1 | 37799865 | 37799865 | Human | | name |