ClinVar Miner

List of variants in gene MYLK2 reported as uncertain significance for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn) rs202084078 0.00066
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.*563A>G rs190077645 0.00023
NM_033118.4(MYLK2):c.191G>C (p.Gly64Ala) rs141105787 0.00021
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.910G>A (p.Glu304Lys) rs767211264 0.00012
NM_033118.4(MYLK2):c.1649G>A (p.Cys550Tyr) rs771059154 0.00009
NM_033118.4(MYLK2):c.719T>C (p.Val240Ala) rs531015124 0.00008
NM_033118.4(MYLK2):c.223G>A (p.Gly75Ser) rs746102821 0.00007
NM_033118.4(MYLK2):c.1018C>T (p.Arg340Cys) rs763678910 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.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.50C>A (p.Thr17Lys) rs192056427 0.00005
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.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.748G>C (p.Glu250Gln) rs1085307713 0.00004
NM_033118.4(MYLK2):c.-3C>T rs1452504056 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.293C>T (p.Pro98Leu) rs766074380 0.00003
NM_033118.4(MYLK2):c.1022A>G (p.Asn341Ser) rs776210812 0.00002
NM_033118.4(MYLK2):c.1265T>C (p.Val422Ala) rs878855173 0.00002
NM_033118.4(MYLK2):c.1480G>A (p.Val494Ile) rs768264478 0.00002
NM_033118.4(MYLK2):c.1606G>A (p.Ala536Thr) rs749619576 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.364G>C (p.Asp122His) rs748134754 0.00002
NM_033118.4(MYLK2):c.373A>G (p.Lys125Glu) rs774114072 0.00002
NM_033118.4(MYLK2):c.792G>A (p.Pro264=) rs752288788 0.00002
NM_033118.4(MYLK2):c.885G>C (p.Lys295Asn) rs749224761 0.00002
NM_033118.4(MYLK2):c.1019G>A (p.Arg340His) rs770590365 0.00001
NM_033118.4(MYLK2):c.1087G>A (p.Glu363Lys) rs367922073 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.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.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.1381G>A (p.Asp461Asn) rs1222457605 0.00001
NM_033118.4(MYLK2):c.1525G>A (p.Val509Ile) rs183224373 0.00001
NM_033118.4(MYLK2):c.1534G>C (p.Glu512Gln) rs767857271 0.00001
NM_033118.4(MYLK2):c.1577+1G>A rs896469988 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.1645C>T (p.Arg549Cys) rs540151040 0.00001
NM_033118.4(MYLK2):c.1671G>T (p.Gln557His) rs1405172030 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.1766G>A (p.Gly589Glu) rs201168172 0.00001
NM_033118.4(MYLK2):c.1768G>T (p.Ala590Ser) rs150004017 0.00001
NM_033118.4(MYLK2):c.259G>A (p.Ala87Thr) rs753089175 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.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.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.551G>A (p.Ser184Asn) rs112657833 0.00001
NM_033118.4(MYLK2):c.577G>A (p.Ala193Thr) rs1228303561 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.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.813G>A (p.Met271Ile) rs376297935 0.00001
NM_033118.4(MYLK2):c.874G>A (p.Gly292Arg) rs1026490690 0.00001
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.1055C>T (p.Pro352Leu)
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.1104C>A (p.Phe368Leu) rs6089088
NM_033118.4(MYLK2):c.110G>A (p.Gly37Asp)
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.1183C>T (p.Leu395Phe) rs1568631895
NM_033118.4(MYLK2):c.1258C>T (p.His420Tyr)
NM_033118.4(MYLK2):c.1270A>T (p.Ile424Phe)
NM_033118.4(MYLK2):c.1282G>T (p.Gly428Cys) rs2123139554
NM_033118.4(MYLK2):c.1295+14G>A rs760629458
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.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.1417T>C (p.Tyr473His)
NM_033118.4(MYLK2):c.1420A>G (p.Met474Val)
NM_033118.4(MYLK2):c.1424+6C>G
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.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.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.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.167C>T (p.Ala56Val) rs751084569
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.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.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.243C>G (p.Asp81Glu)
NM_033118.4(MYLK2):c.244_245del (p.Arg82fs) rs751701199
NM_033118.4(MYLK2):c.253G>A (p.Gly85Arg)
NM_033118.4(MYLK2):c.255del (p.Ala87fs)
NM_033118.4(MYLK2):c.281C>G (p.Pro94Arg) rs201134349
NM_033118.4(MYLK2):c.335A>G (p.Lys112Arg) rs2123126349
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.430C>T (p.Pro144Ser)
NM_033118.4(MYLK2):c.433G>C (p.Ala145Pro)
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+1G>A rs2062247669
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.52+14G>T
NM_033118.4(MYLK2):c.52+19A>T
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.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.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.620T>G (p.Val207Gly)
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.658A>G (p.Met220Val)
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.716A>C (p.Glu239Ala)
NM_033118.4(MYLK2):c.722G>C (p.Gly241Ala)
NM_033118.4(MYLK2):c.74C>T (p.Thr25Ile) rs1183127391
NM_033118.4(MYLK2):c.773-19G>T rs914355976
NM_033118.4(MYLK2):c.773-3C>T
NM_033118.4(MYLK2):c.773A>T (p.Asp258Val) rs2123130394
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.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.94G>T (p.Ala32Ser)
NM_033118.4(MYLK2):c.95C>T (p.Ala32Val)
NM_033118.4(MYLK2):c.96_97delinsCC (p.Gly33Arg) rs1568626448
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.989A>G (p.Glu330Gly)
NM_033118.4(MYLK2):c.99G>T (p.Gly33=)

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