ClinVar Miner

List of variants in gene MYLK2 studied for hypertrophic cardiomyopathy

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 440
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033118.4(MYLK2):c.1710+15A>G rs6060980 0.09349
NM_033118.4(MYLK2):c.684T>C (p.Ile228=) rs6058469 0.09162
NM_033118.3(MYLK2):c.*911T>A rs7269370 0.08602
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01993
NM_033118.4(MYLK2):c.1104C>T (p.Phe368=) rs6089088 0.01807
NM_033118.4(MYLK2):c.266G>A (p.Gly89Asp) rs115398036 0.01365
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_033118.4(MYLK2):c.1068C>T (p.Val356=) rs17340492 0.01201
NM_033118.4(MYLK2):c.918C>T (p.Ala306=) rs41293106 0.01179
NM_033118.4(MYLK2):c.1711-6C>T rs76603530 0.00376
NM_033118.4(MYLK2):c.1711-20C>G rs189282373 0.00374
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=) rs111888319 0.00180
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu) rs142620954 0.00165
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_033118.4(MYLK2):c.102A>G (p.Lys34=) rs28763880 0.00101
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn) rs202084078 0.00066
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile) rs144129296 0.00051
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val) rs146497334 0.00051
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_033118.4(MYLK2):c.783G>A (p.Pro261=) rs144621796 0.00037
NM_033118.4(MYLK2):c.549C>T (p.His183=) rs3746597 0.00035
NM_033118.4(MYLK2):c.1176C>T (p.Asp392=) rs147099889 0.00031
NM_033118.4(MYLK2):c.786A>G (p.Pro262=) rs727504437 0.00029
NM_033118.4(MYLK2):c.473+11C>T rs373880854 0.00028
NM_033118.4(MYLK2):c.902C>A (p.Thr301Asn) rs587782968 0.00026
NM_033118.4(MYLK2):c.*563A>G rs190077645 0.00023
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=) rs369603764 0.00023
NM_033118.4(MYLK2):c.191G>C (p.Gly64Ala) rs141105787 0.00021
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_033118.4(MYLK2):c.726G>A (p.Gln242=) rs145772898 0.00017
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn) rs200204126 0.00016
NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu) rs768640764 0.00014
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val) rs121908107 0.00014
NM_033118.4(MYLK2):c.381G>A (p.Arg127=) rs141524173 0.00013
NM_033118.4(MYLK2):c.910G>A (p.Glu304Lys) rs767211264 0.00012
NM_033118.4(MYLK2):c.281C>T (p.Pro94Leu) rs201134349 0.00011
NM_033118.4(MYLK2):c.828C>T (p.Thr276=) rs370429139 0.00011
NM_033118.4(MYLK2):c.1590C>T (p.Asn530=) rs374233822 0.00010
NM_033118.4(MYLK2):c.1225-20G>T rs368839195 0.00009
NM_033118.4(MYLK2):c.1605C>T (p.Leu535=) rs780842075 0.00009
NM_033118.4(MYLK2):c.1649G>A (p.Cys550Tyr) rs771059154 0.00009
NM_033118.4(MYLK2):c.288C>T (p.Ala96=) rs371130292 0.00009
NM_033118.4(MYLK2):c.987G>A (p.Leu329=) rs200155693 0.00009
NM_033118.4(MYLK2):c.519G>A (p.Glu173=) rs560186994 0.00008
NM_033118.4(MYLK2):c.719T>C (p.Val240Ala) rs531015124 0.00008
NM_033118.4(MYLK2):c.1105G>A (p.Glu369Lys) rs371807668 0.00007
NM_033118.4(MYLK2):c.223G>A (p.Gly75Ser) rs746102821 0.00007
NM_033118.4(MYLK2):c.261G>A (p.Ala87=) rs374353729 0.00007
NM_033118.4(MYLK2):c.1018C>T (p.Arg340Cys) rs763678910 0.00006
NM_033118.4(MYLK2):c.105C>T (p.Asp35=) rs551492045 0.00006
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe) rs779637525 0.00006
NM_033118.4(MYLK2):c.1224+8A>C rs375144075 0.00006
NM_033118.4(MYLK2):c.1356G>A (p.Glu452=) rs147329431 0.00006
NM_033118.4(MYLK2):c.1479C>T (p.Asn493=) rs141415487 0.00006
NM_033118.4(MYLK2):c.1700G>A (p.Arg567Lys) rs139331477 0.00006
NM_033118.4(MYLK2):c.1710+5C>T rs574644297 0.00006
NM_033118.4(MYLK2):c.282G>A (p.Pro94=) rs200710399 0.00006
NM_033118.4(MYLK2):c.331C>T (p.Pro111Ser) rs750548324 0.00006
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val) rs56385445 0.00006
NM_033118.4(MYLK2):c.463A>T (p.Ile155Phe) rs140233643 0.00006
NM_033118.4(MYLK2):c.572C>T (p.Ala191Val) rs778578033 0.00006
NM_033118.4(MYLK2):c.595A>G (p.Ile199Val) rs193922712 0.00006
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn) rs397517472 0.00005
NM_033118.4(MYLK2):c.227C>T (p.Pro76Leu) rs775335331 0.00005
NM_033118.4(MYLK2):c.312T>C (p.Pro104=) rs202047576 0.00005
NM_033118.4(MYLK2):c.50C>A (p.Thr17Lys) rs192056427 0.00005
NM_033118.4(MYLK2):c.1377C>A (p.Ile459=) rs751829959 0.00004
NM_033118.4(MYLK2):c.1401T>C (p.Ser467=) rs770625966 0.00004
NM_033118.4(MYLK2):c.1657C>T (p.Arg553Cys) rs765059037 0.00004
NM_033118.4(MYLK2):c.1702C>T (p.Arg568Cys) rs772716379 0.00004
NM_033118.4(MYLK2):c.1731C>T (p.Ser577=) rs772804572 0.00004
NM_033118.4(MYLK2):c.357C>A (p.Gly119=) rs199854237 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 0.00004
NM_033118.4(MYLK2):c.507C>T (p.Ser169=) rs374538348 0.00004
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_033118.4(MYLK2):c.558G>A (p.Thr186=) rs140695242 0.00004
NM_033118.4(MYLK2):c.5C>T (p.Ala2Val) rs373406874 0.00004
NM_033118.4(MYLK2):c.714C>T (p.Ser238=) rs374323310 0.00004
NM_033118.4(MYLK2):c.748G>C (p.Glu250Gln) rs1085307713 0.00004
NM_033118.4(MYLK2):c.1047C>T (p.Ile349=) rs751038976 0.00003
NM_033118.4(MYLK2):c.1082+10C>T rs770363702 0.00003
NM_033118.4(MYLK2):c.1248C>T (p.Asn416=) rs138459623 0.00003
NM_033118.4(MYLK2):c.1380C>T (p.Ser460=) rs777799897 0.00003
NM_033118.4(MYLK2):c.1505A>G (p.Asp502Gly) rs759960723 0.00003
NM_033118.4(MYLK2):c.1625A>G (p.Asn542Ser) rs775059729 0.00003
NM_033118.4(MYLK2):c.1626C>A (p.Asn542Lys) rs368444888 0.00003
NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr) rs727503306 0.00003
NM_033118.4(MYLK2):c.184G>A (p.Gly62Arg) rs755363421 0.00003
NM_033118.4(MYLK2):c.194C>T (p.Thr65Ile) rs747109352 0.00003
NM_033118.4(MYLK2):c.293C>T (p.Pro98Leu) rs766074380 0.00003
NM_033118.4(MYLK2):c.6G>A (p.Ala2=) rs201983158 0.00003
NM_033118.4(MYLK2):c.1022A>G (p.Asn341Ser) rs776210812 0.00002
NM_033118.4(MYLK2):c.1082+19G>A rs745498112 0.00002
NM_033118.4(MYLK2):c.1083-4A>G rs369435472 0.00002
NM_033118.4(MYLK2):c.1086C>T (p.Ile362=) rs188352991 0.00002
NM_033118.4(MYLK2):c.1265T>C (p.Val422Ala) rs878855173 0.00002
NM_033118.4(MYLK2):c.1284C>T (p.Gly428=) rs727503305 0.00002
NM_033118.4(MYLK2):c.1424+13G>A rs371900250 0.00002
NM_033118.4(MYLK2):c.1424+15G>A rs762322372 0.00002
NM_033118.4(MYLK2):c.1424+20G>A rs375290219 0.00002
NM_033118.4(MYLK2):c.1480G>A (p.Val494Ile) rs768264478 0.00002
NM_033118.4(MYLK2):c.1578-17T>C rs892663559 0.00002
NM_033118.4(MYLK2):c.1606G>A (p.Ala536Thr) rs749619576 0.00002
NM_033118.4(MYLK2):c.1773G>T (p.Leu591=) rs757802556 0.00002
NM_033118.4(MYLK2):c.226C>T (p.Pro76Ser) rs199791180 0.00002
NM_033118.4(MYLK2):c.250G>A (p.Gly84Arg) rs567882762 0.00002
NM_033118.4(MYLK2):c.305C>T (p.Ala102Val) rs763316056 0.00002
NM_033118.4(MYLK2):c.373A>G (p.Lys125Glu) rs774114072 0.00002
NM_033118.4(MYLK2):c.474-7C>T rs773417120 0.00002
NM_033118.4(MYLK2):c.675G>A (p.Ser225=) rs753309061 0.00002
NM_033118.4(MYLK2):c.792G>A (p.Pro264=) rs752288788 0.00002
NM_033118.4(MYLK2):c.870G>A (p.Ala290=) rs1037625331 0.00002
NM_033118.4(MYLK2):c.885G>C (p.Lys295Asn) rs749224761 0.00002
NM_033118.4(MYLK2):c.891G>A (p.Gly297=) rs886056578 0.00002
NM_033118.4(MYLK2):c.933G>C (p.Leu311=) rs146745888 0.00002
NM_033118.4(MYLK2):c.1019G>A (p.Arg340His) rs770590365 0.00001
NM_033118.4(MYLK2):c.1020C>T (p.Arg340=) rs1331155233 0.00001
NM_033118.4(MYLK2):c.1087G>A (p.Glu363Lys) rs367922073 0.00001
NM_033118.4(MYLK2):c.1092C>T (p.Gly364=) rs745574239 0.00001
NM_033118.4(MYLK2):c.1093G>A (p.Gly365Arg) rs755753841 0.00001
NM_033118.4(MYLK2):c.1112T>C (p.Ile371Thr) rs727505336 0.00001
NM_033118.4(MYLK2):c.1137C>T (p.Thr379=) rs759608229 0.00001
NM_033118.4(MYLK2):c.1168A>G (p.Ile390Val) rs762726572 0.00001
NM_033118.4(MYLK2):c.116C>T (p.Pro39Leu) rs786205283 0.00001
NM_033118.4(MYLK2):c.1189A>G (p.Met397Val) rs1490196764 0.00001
NM_033118.4(MYLK2):c.118G>C (p.Asp40His) rs1442623234 0.00001
NM_033118.4(MYLK2):c.1194C>T (p.His398=) rs767402714 0.00001
NM_033118.4(MYLK2):c.1203G>A (p.Arg401=) rs755594011 0.00001
NM_033118.4(MYLK2):c.1227A>G (p.Pro409=) rs1297500199 0.00001
NM_033118.4(MYLK2):c.1233C>T (p.Asn411=) rs200963586 0.00001
NM_033118.4(MYLK2):c.1254C>T (p.Thr418=) rs575681305 0.00001
NM_033118.4(MYLK2):c.1255G>A (p.Gly419Arg) rs781613441 0.00001
NM_033118.4(MYLK2):c.125A>G (p.Lys42Arg) rs150342605 0.00001
NM_033118.4(MYLK2):c.1291C>T (p.Arg431Trp) rs1370884458 0.00001
NM_033118.4(MYLK2):c.1314G>A (p.Lys438=) rs990954469 0.00001
NM_033118.4(MYLK2):c.1381G>A (p.Asp461Asn) rs1222457605 0.00001
NM_033118.4(MYLK2):c.1410G>A (p.Val470=) rs1489644054 0.00001
NM_033118.4(MYLK2):c.1425-5T>C rs763149471 0.00001
NM_033118.4(MYLK2):c.1425-6C>T rs200234935 0.00001
NM_033118.4(MYLK2):c.1515C>T (p.Thr505=) rs930435016 0.00001
NM_033118.4(MYLK2):c.1525G>A (p.Val509Ile) rs183224373 0.00001
NM_033118.4(MYLK2):c.1533C>T (p.Asp511=) rs201144061 0.00001
NM_033118.4(MYLK2):c.1534G>C (p.Glu512Gln) rs767857271 0.00001
NM_033118.4(MYLK2):c.1577+10A>G rs777459815 0.00001
NM_033118.4(MYLK2):c.1577+1G>A rs896469988 0.00001
NM_033118.4(MYLK2):c.1577+9C>T rs373252847 0.00001
NM_033118.4(MYLK2):c.1578-16G>A rs765150509 0.00001
NM_033118.4(MYLK2):c.1582C>T (p.Arg528Trp) rs752617053 0.00001
NM_033118.4(MYLK2):c.1631C>T (p.Ala544Val) rs868117451 0.00001
NM_033118.4(MYLK2):c.1632G>A (p.Ala544=) rs772321212 0.00001
NM_033118.4(MYLK2):c.1645C>T (p.Arg549Cys) rs540151040 0.00001
NM_033118.4(MYLK2):c.1659C>T (p.Arg553=) rs727504624 0.00001
NM_033118.4(MYLK2):c.1671G>T (p.Gln557His) rs1405172030 0.00001
NM_033118.4(MYLK2):c.1710+8T>C rs1010376413 0.00001
NM_033118.4(MYLK2):c.1742G>A (p.Arg581His) rs1240286486 0.00001
NM_033118.4(MYLK2):c.1762T>C (p.Ser588Pro) rs1390693355 0.00001
NM_033118.4(MYLK2):c.1763C>T (p.Ser588Leu) rs973371846 0.00001
NM_033118.4(MYLK2):c.1764G>A (p.Ser588=) rs758879929 0.00001
NM_033118.4(MYLK2):c.1766G>A (p.Gly589Glu) rs201168172 0.00001
NM_033118.4(MYLK2):c.1768G>T (p.Ala590Ser) rs150004017 0.00001
NM_033118.4(MYLK2):c.189T>C (p.Asp63=) rs1266323436 0.00001
NM_033118.4(MYLK2):c.204A>G (p.Gln68=) rs1240723658 0.00001
NM_033118.4(MYLK2):c.21A>G (p.Ala7=) rs754853086 0.00001
NM_033118.4(MYLK2):c.249C>T (p.Gly83=) rs774383057 0.00001
NM_033118.4(MYLK2):c.259G>A (p.Ala87Thr) rs753089175 0.00001
NM_033118.4(MYLK2):c.267C>T (p.Gly89=) rs757350083 0.00001
NM_033118.4(MYLK2):c.268A>G (p.Ser90Gly) rs781322060 0.00001
NM_033118.4(MYLK2):c.287C>T (p.Ala96Val) rs772745416 0.00001
NM_033118.4(MYLK2):c.294C>T (p.Pro98=) rs373609417 0.00001
NM_033118.4(MYLK2):c.322G>A (p.Val108Ile) rs367707824 0.00001
NM_033118.4(MYLK2):c.32G>A (p.Gly11Glu) rs1316397890 0.00001
NM_033118.4(MYLK2):c.337G>T (p.Ala113Ser) rs201107614 0.00001
NM_033118.4(MYLK2):c.353C>T (p.Ser118Leu) rs727503304 0.00001
NM_033118.4(MYLK2):c.383T>A (p.Val128Glu) rs764494869 0.00001
NM_033118.4(MYLK2):c.393G>A (p.Lys131=) rs397517474 0.00001
NM_033118.4(MYLK2):c.398C>T (p.Ala133Val) rs761688232 0.00001
NM_033118.4(MYLK2):c.409G>A (p.Ala137Thr) rs1278523169 0.00001
NM_033118.4(MYLK2):c.490G>T (p.Ala164Ser) rs1402022243 0.00001
NM_033118.4(MYLK2):c.52+11G>A rs2062241495 0.00001
NM_033118.4(MYLK2):c.551G>A (p.Ser184Asn) rs112657833 0.00001
NM_033118.4(MYLK2):c.577G>A (p.Ala193Thr) rs1228303561 0.00001
NM_033118.4(MYLK2):c.594C>T (p.Asn198=) rs771352528 0.00001
NM_033118.4(MYLK2):c.602C>A (p.Ala201Glu) rs769968444 0.00001
NM_033118.4(MYLK2):c.606G>C (p.Glu202Asp) rs775405264 0.00001
NM_033118.4(MYLK2):c.633C>T (p.Thr211=) rs768001289 0.00001
NM_033118.4(MYLK2):c.662A>G (p.Gln221Arg) rs750419427 0.00001
NM_033118.4(MYLK2):c.68G>A (p.Gly23Asp) rs776262276 0.00001
NM_033118.4(MYLK2):c.704C>T (p.Ser235Leu) rs770237487 0.00001
NM_033118.4(MYLK2):c.715G>A (p.Glu239Lys) rs768716432 0.00001
NM_033118.4(MYLK2):c.772+18G>C rs773045483 0.00001
NM_033118.4(MYLK2):c.78T>A (p.Gly26=) rs1600406921 0.00001
NM_033118.4(MYLK2):c.813G>A (p.Met271Ile) rs376297935 0.00001
NM_033118.4(MYLK2):c.874G>A (p.Gly292Arg) rs1026490690 0.00001
NM_033118.4(MYLK2):c.879-13C>T rs367859025 0.00001
NM_033118.4(MYLK2):c.879-19C>A rs769913699 0.00001
NM_033118.4(MYLK2):c.972+13C>T rs876657524 0.00001
NM_033118.4(MYLK2):c.972+17G>A rs1429941974 0.00001
NM_033118.4(MYLK2):c.972+19T>C rs747697105 0.00001
NC_000020.10:g.(?_30407384)_(30421600_?)dup
NM_033118.4(MYLK2):c.1000A>G (p.Met334Val)
NM_033118.4(MYLK2):c.1006C>G (p.Gln336Glu) rs2123134566
NM_033118.4(MYLK2):c.1018C>A (p.Arg340Ser)
NM_033118.4(MYLK2):c.1035G>C (p.Leu345=)
NM_033118.4(MYLK2):c.1055C>T (p.Pro352Leu)
NM_033118.4(MYLK2):c.1056G>A (p.Pro352=) rs370053164
NM_033118.4(MYLK2):c.1056G>T (p.Pro352=) rs370053164
NM_033118.4(MYLK2):c.105C>A (p.Asp35Glu) rs551492045
NM_033118.4(MYLK2):c.1066G>A (p.Val356Ile)
NM_033118.4(MYLK2):c.1076T>C (p.Met359Thr)
NM_033118.4(MYLK2):c.1080G>A (p.Glu360=)
NM_033118.4(MYLK2):c.1083-5C>T rs1600410950
NM_033118.4(MYLK2):c.1083-8G>A
NM_033118.4(MYLK2):c.1104C>A (p.Phe368Leu) rs6089088
NM_033118.4(MYLK2):c.110G>A (p.Gly37Asp)
NM_033118.4(MYLK2):c.111C>A (p.Gly37=) rs1389317242
NM_033118.4(MYLK2):c.1137C>A (p.Thr379=) rs759608229
NM_033118.4(MYLK2):c.1138G>A (p.Glu380Lys) rs1174826293
NM_033118.4(MYLK2):c.113C>A (p.Pro38His)
NM_033118.4(MYLK2):c.1147A>G (p.Thr383Ala)
NM_033118.4(MYLK2):c.1148C>T (p.Thr383Ile)
NM_033118.4(MYLK2):c.1161C>G (p.Val387=)
NM_033118.4(MYLK2):c.1170C>T (p.Ile390=)
NM_033118.4(MYLK2):c.1198A>G (p.Met400Val)
NM_033118.4(MYLK2):c.1225-13C>T rs765889473
NM_033118.4(MYLK2):c.1225-14C>A
NM_033118.4(MYLK2):c.1245C>T (p.Val415=)
NM_033118.4(MYLK2):c.1258C>T (p.His420Tyr)
NM_033118.4(MYLK2):c.126G>A (p.Lys42=) rs2123125859
NM_033118.4(MYLK2):c.1270A>T (p.Ile424Phe)
NM_033118.4(MYLK2):c.1282G>T (p.Gly428Cys) rs2123139554
NM_033118.4(MYLK2):c.1290A>C (p.Ala430=) rs878855174
NM_033118.4(MYLK2):c.1295+12G>C
NM_033118.4(MYLK2):c.1295+14G>A rs760629458
NM_033118.4(MYLK2):c.1295+9TGGG[2] rs2123139600
NM_033118.4(MYLK2):c.1296-13G>A
NM_033118.4(MYLK2):c.1301A>G (p.Asn434Ser)
NM_033118.4(MYLK2):c.1309G>A (p.Glu437Lys)
NM_033118.4(MYLK2):c.1334C>T (p.Thr445Ile)
NM_033118.4(MYLK2):c.1354G>C (p.Glu452Gln) rs2062304072
NM_033118.4(MYLK2):c.135G>A (p.Pro45=)
NM_033118.4(MYLK2):c.1360G>T (p.Val454Leu) rs1555790622
NM_033118.4(MYLK2):c.1367A>G (p.Tyr456Cys)
NM_033118.4(MYLK2):c.1395G>A (p.Met465Ile)
NM_033118.4(MYLK2):c.1402A>G (p.Met468Val) rs2062304337
NM_033118.4(MYLK2):c.1405G>C (p.Gly469Arg) rs1568634635
NM_033118.4(MYLK2):c.1407G>A (p.Gly469=)
NM_033118.4(MYLK2):c.1417T>C (p.Tyr473His)
NM_033118.4(MYLK2):c.1420A>G (p.Met474Val)
NM_033118.4(MYLK2):c.1424+19C>T
NM_033118.4(MYLK2):c.1424+6C>G
NM_033118.4(MYLK2):c.1424+6C>T
NM_033118.4(MYLK2):c.1424+8C>T rs2062304481
NM_033118.4(MYLK2):c.1425-10C>G rs759832182
NM_033118.4(MYLK2):c.1425-10C>T
NM_033118.4(MYLK2):c.1425-11C>A
NM_033118.4(MYLK2):c.1425-12C>T
NM_033118.4(MYLK2):c.1425-6C>A rs200234935
NM_033118.4(MYLK2):c.1432G>A (p.Gly478Ser)
NM_033118.4(MYLK2):c.1438T>C (p.Ser480Pro)
NM_033118.4(MYLK2):c.143C>T (p.Pro48Leu)
NM_033118.4(MYLK2):c.1440C>T (p.Ser480=) rs867518927
NM_033118.4(MYLK2):c.1446C>T (p.Phe482=) rs1261064039
NM_033118.4(MYLK2):c.145A>C (p.Thr49Pro)
NM_033118.4(MYLK2):c.1465G>A (p.Glu489Lys) rs2123140758
NM_033118.4(MYLK2):c.1495T>A (p.Trp499Arg) rs1279963761
NM_033118.4(MYLK2):c.1495T>C (p.Trp499Arg) rs1279963761
NM_033118.4(MYLK2):c.1496G>A (p.Trp499Ter)
NM_033118.4(MYLK2):c.1499A>G (p.Tyr500Cys) rs974471969
NM_033118.4(MYLK2):c.14dup (p.Asn5fs) rs1251172824
NM_033118.4(MYLK2):c.1506T>A (p.Asp502Glu) rs2123140854
NM_033118.4(MYLK2):c.1510G>C (p.Glu504Gln)
NM_033118.4(MYLK2):c.1514C>G (p.Thr505Ser) rs144359857
NM_033118.4(MYLK2):c.1514C>T (p.Thr505Ile) rs144359857
NM_033118.4(MYLK2):c.1515C>G (p.Thr505=) rs930435016
NM_033118.4(MYLK2):c.1518T>C (p.Phe506=)
NM_033118.4(MYLK2):c.1529C>T (p.Ser510Leu)
NM_033118.4(MYLK2):c.1538C>A (p.Ala513Asp)
NM_033118.4(MYLK2):c.1543G>T (p.Asp515Tyr) rs2062307963
NM_033118.4(MYLK2):c.1546T>A (p.Phe516Ile) rs2062307970
NM_033118.4(MYLK2):c.1564G>A (p.Val522Ile) rs747657397
NM_033118.4(MYLK2):c.156A>G (p.Lys52=) rs2123125914
NM_033118.4(MYLK2):c.1577+17A>G rs2062308168
NM_033118.4(MYLK2):c.1577+20C>G
NM_033118.4(MYLK2):c.1578-11C>T
NM_033118.4(MYLK2):c.1578-15C>A rs2123141194
NM_033118.4(MYLK2):c.1591G>A (p.Ala531Thr)
NM_033118.4(MYLK2):c.1598A>G (p.Gln533Arg)
NM_033118.4(MYLK2):c.1613C>T (p.Pro538Leu) rs1600414450
NM_033118.4(MYLK2):c.161C>T (p.Ala54Val)
NM_033118.4(MYLK2):c.1628_1641del (p.Leu543fs)
NM_033118.4(MYLK2):c.162_163insT (p.Lys55Ter)
NM_033118.4(MYLK2):c.1646G>A (p.Arg549His)
NM_033118.4(MYLK2):c.1651A>G (p.Asn551Asp)
NM_033118.4(MYLK2):c.1654C>T (p.Arg552Ter)
NM_033118.4(MYLK2):c.1659C>A (p.Arg553=) rs727504624
NM_033118.4(MYLK2):c.1690C>T (p.Leu564Phe)
NM_033118.4(MYLK2):c.1697A>G (p.Lys566Arg) rs1342901282
NM_033118.4(MYLK2):c.1699A>G (p.Arg567Gly) rs1600414546
NM_033118.4(MYLK2):c.1710+14C>T
NM_033118.4(MYLK2):c.1710+14_1710+15delinsGG rs2123141528
NM_033118.4(MYLK2):c.1710+15A>T rs6060980
NM_033118.4(MYLK2):c.1710+18G>A
NM_033118.4(MYLK2):c.1710+20G>C
NM_033118.4(MYLK2):c.1710+20G>T
NM_033118.4(MYLK2):c.1711-4C>T rs372190501
NM_033118.4(MYLK2):c.1726G>A (p.Val576Ile) rs1288571285
NM_033118.4(MYLK2):c.172G>A (p.Ala58Thr) rs2123125941
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys) rs766199082
NM_033118.4(MYLK2):c.1748AGA[1] (p.Lys584del) rs774851606
NM_033118.4(MYLK2):c.1765G>A (p.Gly589Arg)
NM_033118.4(MYLK2):c.1771_*12del (p.Leu591_Ter597del)
NM_033118.4(MYLK2):c.1774A>G (p.Met592Val)
NM_033118.4(MYLK2):c.1783G>C (p.Gly595Arg) rs2062319327
NM_033118.4(MYLK2):c.1784G>A (p.Gly595Glu) rs2062319347
NM_033118.4(MYLK2):c.1790G>A (p.Ter597=)
NM_033118.4(MYLK2):c.17G>A (p.Gly6Glu) rs2062241270
NM_033118.4(MYLK2):c.187G>A (p.Asp63Asn) rs779321042
NM_033118.4(MYLK2):c.187G>T (p.Asp63Tyr) rs779321042
NM_033118.4(MYLK2):c.205C>T (p.Pro69Ser) rs886056576
NM_033118.4(MYLK2):c.208T>A (p.Ser70Thr)
NM_033118.4(MYLK2):c.224G>A (p.Gly75Asp)
NM_033118.4(MYLK2):c.240T>G (p.Gly80=)
NM_033118.4(MYLK2):c.243C>G (p.Asp81Glu)
NM_033118.4(MYLK2):c.244_245del (p.Arg82fs) rs751701199
NM_033118.4(MYLK2):c.249C>A (p.Gly83=)
NM_033118.4(MYLK2):c.253G>A (p.Gly85Arg)
NM_033118.4(MYLK2):c.255G>A (p.Gly85=)
NM_033118.4(MYLK2):c.255G>T (p.Gly85=)
NM_033118.4(MYLK2):c.255del (p.Ala87fs)
NM_033118.4(MYLK2):c.258C>T (p.Pro86=) rs149280577
NM_033118.4(MYLK2):c.281C>G (p.Pro94Arg) rs201134349
NM_033118.4(MYLK2):c.303T>C (p.Thr101=) rs1555789900
NM_033118.4(MYLK2):c.306G>A (p.Ala102=)
NM_033118.4(MYLK2):c.335A>G (p.Lys112Arg) rs2123126349
NM_033118.4(MYLK2):c.348A>G (p.Gly116=) rs754876521
NM_033118.4(MYLK2):c.365A>T (p.Asp122Val)
NM_033118.4(MYLK2):c.371G>A (p.Gly124Glu) rs772970924
NM_033118.4(MYLK2):c.381G>C (p.Arg127Ser)
NM_033118.4(MYLK2):c.391A>G (p.Lys131Glu) rs1555789906
NM_033118.4(MYLK2):c.393_407dup (p.Glu134_Ala138dup) rs2123126489
NM_033118.4(MYLK2):c.395C>T (p.Ala132Val)
NM_033118.4(MYLK2):c.402G>T (p.Glu134Asp) rs768092962
NM_033118.4(MYLK2):c.403G>A (p.Gly135Ser) rs750838459
NM_033118.4(MYLK2):c.403G>C (p.Gly135Arg)
NM_033118.4(MYLK2):c.426C>G (p.Gly142=)
NM_033118.4(MYLK2):c.430C>T (p.Pro144Ser)
NM_033118.4(MYLK2):c.433G>C (p.Ala145Pro)
NM_033118.4(MYLK2):c.444T>C (p.His148=) rs780660993
NM_033118.4(MYLK2):c.453C>G (p.Ser151Arg) rs1600407268
NM_033118.4(MYLK2):c.470C>T (p.Ser157Phe) rs2062247649
NM_033118.4(MYLK2):c.473+11_473+12delinsAG
NM_033118.4(MYLK2):c.473+17G>C rs772259200
NM_033118.4(MYLK2):c.473+18G>A rs2123126696
NM_033118.4(MYLK2):c.473+1G>A rs2062247669
NM_033118.4(MYLK2):c.474-10C>T rs772534999
NM_033118.4(MYLK2):c.474-12C>T
NM_033118.4(MYLK2):c.474-19_474-18del
NM_033118.4(MYLK2):c.487C>T (p.Leu163=)
NM_033118.4(MYLK2):c.50C>T (p.Thr17Ile) rs192056427
NM_033118.4(MYLK2):c.514_603del (p.Ser172_Ala201del) rs2123127709
NM_033118.4(MYLK2):c.516A>C (p.Ser172=)
NM_033118.4(MYLK2):c.52+13G>C
NM_033118.4(MYLK2):c.52+14G>T
NM_033118.4(MYLK2):c.52+19A>G
NM_033118.4(MYLK2):c.52+19A>T
NM_033118.4(MYLK2):c.52+8G>A
NM_033118.4(MYLK2):c.52+9C>A rs2062241484
NM_033118.4(MYLK2):c.520C>T (p.Leu174Phe) rs2123127754
NM_033118.4(MYLK2):c.523A>G (p.Thr175Ala) rs2123127764
NM_033118.4(MYLK2):c.53-20G>A
NM_033118.4(MYLK2):c.53-20G>T
NM_033118.4(MYLK2):c.550A>G (p.Ser184Gly)
NM_033118.4(MYLK2):c.56A>G (p.Lys19Arg) rs1060500984
NM_033118.4(MYLK2):c.572C>A (p.Ala191Asp)
NM_033118.4(MYLK2):c.573C>T (p.Ala191=)
NM_033118.4(MYLK2):c.576G>C (p.Lys192Asn)
NM_033118.4(MYLK2):c.591G>T (p.Lys197Asn)
NM_033118.4(MYLK2):c.611A>G (p.Gln204Arg) rs2062252352
NM_033118.4(MYLK2):c.615G>A (p.Lys205=)
NM_033118.4(MYLK2):c.620T>G (p.Val207Gly)
NM_033118.4(MYLK2):c.627G>A (p.Glu209=) rs587781091
NM_033118.4(MYLK2):c.632C>A (p.Thr211Asn)
NM_033118.4(MYLK2):c.637GGCCAGGCT[1] (p.213GQA[1])
NM_033118.4(MYLK2):c.637GGCCAGGCT[3] (p.213GQA[3]) rs2062252502
NM_033118.4(MYLK2):c.648C>A (p.Gly216=) rs761603914
NM_033118.4(MYLK2):c.658A>G (p.Met220Val)
NM_033118.4(MYLK2):c.666G>A (p.Gly222=)
NM_033118.4(MYLK2):c.669C>T (p.Asp223=) rs2123128080
NM_033118.4(MYLK2):c.674C>T (p.Ser225Leu)
NM_033118.4(MYLK2):c.683T>C (p.Ile228Thr) rs1060500985
NM_033118.4(MYLK2):c.706G>C (p.Glu236Gln)
NM_033118.4(MYLK2):c.711A>G (p.Lys237=)
NM_033118.4(MYLK2):c.716A>C (p.Glu239Ala)
NM_033118.4(MYLK2):c.722G>C (p.Gly241Ala)
NM_033118.4(MYLK2):c.732C>G (p.Leu244=) rs2123128189
NM_033118.4(MYLK2):c.74C>T (p.Thr25Ile) rs1183127391
NM_033118.4(MYLK2):c.75A>G (p.Thr25=)
NM_033118.4(MYLK2):c.772+14A>T rs2062253179
NM_033118.4(MYLK2):c.772+44G>C rs35574032
NM_033118.4(MYLK2):c.773-15T>C
NM_033118.4(MYLK2):c.773-19G>T rs914355976
NM_033118.4(MYLK2):c.773-3C>T
NM_033118.4(MYLK2):c.773-7C>T
NM_033118.4(MYLK2):c.773A>T (p.Asp258Val) rs2123130394
NM_033118.4(MYLK2):c.792G>C (p.Pro264=) rs752288788
NM_033118.4(MYLK2):c.803C>T (p.Pro268Leu) rs372639122
NM_033118.4(MYLK2):c.809G>A (p.Arg270His) rs146485342
NM_033118.4(MYLK2):c.809G>T (p.Arg270Leu) rs146485342
NM_033118.4(MYLK2):c.816G>A (p.Val272=) rs1405030492
NM_033118.4(MYLK2):c.827C>G (p.Thr276Ser)
NM_033118.4(MYLK2):c.828C>G (p.Thr276=) rs370429139
NM_033118.4(MYLK2):c.831G>A (p.Gly277=)
NM_033118.4(MYLK2):c.852T>C (p.Ser284=) rs2123130573
NM_033118.4(MYLK2):c.852_870dup (p.Leu291fs) rs2123130570
NM_033118.4(MYLK2):c.85C>A (p.Pro29Thr)
NM_033118.4(MYLK2):c.862A>G (p.Lys288Glu)
NM_033118.4(MYLK2):c.866A>C (p.Glu289Ala)
NM_033118.4(MYLK2):c.872T>C (p.Leu291Pro)
NM_033118.4(MYLK2):c.878+17dup rs2123130655
NM_033118.4(MYLK2):c.927C>T (p.Leu309=)
NM_033118.4(MYLK2):c.94G>T (p.Ala32Ser)
NM_033118.4(MYLK2):c.957G>A (p.Gln319=) rs2123131710
NM_033118.4(MYLK2):c.95C>T (p.Ala32Val)
NM_033118.4(MYLK2):c.963C>T (p.Pro321=) rs756032622
NM_033118.4(MYLK2):c.96_97delinsCC (p.Gly33Arg) rs1568626448
NM_033118.4(MYLK2):c.972+14G>C rs193922713
NM_033118.4(MYLK2):c.972+18del rs1223978472
NM_033118.4(MYLK2):c.973-13C>T rs750724227
NM_033118.4(MYLK2):c.973-4C>T
NM_033118.4(MYLK2):c.976A>G (p.Met326Val) rs2062280681
NM_033118.4(MYLK2):c.978G>A (p.Met326Ile)
NM_033118.4(MYLK2):c.97G>T (p.Gly33Trp)
NM_033118.4(MYLK2):c.981G>C (p.Val327=)
NM_033118.4(MYLK2):c.989A>G (p.Glu330Gly)
NM_033118.4(MYLK2):c.99G>T (p.Gly33=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.