ClinVar Miner

List of variants in gene LMNA reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 197
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.(?_156114899)_(156126243_?)del
NC_000001.11:g.(?_156114899)_(156139859_?)del
NM_001282624.1(LMNA):c.342C>G (p.Asn114Lys) rs28933091
NM_005572.3(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_005572.3(LMNA):c.1228C>T (p.Gln410Ter) rs1057515421
NM_005572.3(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_005572.3(LMNA):c.1444C>T (p.Arg482Trp) rs57920071
NM_005572.3(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_005572.3(LMNA):c.1458G>T (p.Lys486Asn) rs59981161
NM_005572.3(LMNA):c.1488+5G>C rs267607543
NM_005572.3(LMNA):c.1524_1534dup (p.Leu512Profs) rs1553266098
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_005572.3(LMNA):c.1566C>A (p.Cys522Ter) rs149339264
NM_005572.3(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_005572.3(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005572.3(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_005572.3(LMNA):c.356+1G>C rs794728589
NM_005572.3(LMNA):c.48delC (p.Ser17Alafs) rs794726921
NM_005572.3(LMNA):c.52_53dup (p.Thr19Profs) rs1553261855
NM_005572.3(LMNA):c.664C>T (p.His222Tyr) rs28928901
NM_005572.3(LMNA):c.673C>T (p.Arg225Ter) rs60682848
NM_005572.3(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_005572.3(LMNA):c.729dup (p.Ala244Cysfs) rs1553265328
NM_005572.3(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_005572.3(LMNA):c.886_887insA (p.Arg296Glnfs) rs797044758
NM_005572.3(LMNA):c.899A>G (p.Asp300Gly) rs79907212
NM_005572.3(LMNA):c.917T>G (p.Leu306Arg) rs730882262
NM_005572.3(LMNA):c.936+2T>C rs797045011
NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) rs56771886
NM_005572.3(LMNA):c.978dup (p.Leu327Thrfs) rs1553265630
NM_170707.2(LMNA):c.1078C>T (p.Gln360Ter) rs1064796677
NM_170707.2(LMNA):c.1142_1157+1del17 rs1553265755
NM_170707.2(LMNA):c.1150delG (p.Glu384Argfs) rs879253913
NM_170707.2(LMNA):c.1157+1G>T rs267607590
NM_170707.2(LMNA):c.1368C>A (p.Asn456Lys) rs61235244
NM_170707.2(LMNA):c.1401G>A (p.Trp467Ter) rs794728613
NM_170707.2(LMNA):c.1540T>C (p.Trp514Arg) rs879254082
NM_170707.2(LMNA):c.1560G>A (p.Trp520Ter) rs794728595
NM_170707.2(LMNA):c.1609-1G>A rs111569862
NM_170707.2(LMNA):c.1629_1636delGGTGCGCT (p.Val544Serfs) rs1064793674
NM_170707.2(LMNA):c.162_163delGG (p.Asn56Argfs) rs879253932
NM_170707.2(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_170707.2(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.2(LMNA):c.412G>A (p.Glu138Lys) rs267607649
NM_170707.2(LMNA):c.427T>C (p.Ser143Pro) rs61661343
NM_170707.2(LMNA):c.513+1G>A rs397517904
NM_170707.2(LMNA):c.522delA (p.Ala175Profs) rs794728606
NM_170707.2(LMNA):c.640-10A>G rs80356807
NM_170707.2(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.2(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_170707.2(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.2(LMNA):c.768G>A (p.Val256=) rs794728593
NM_170707.2(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.2(LMNA):c.781_783delAAG (p.Lys261del) rs58978449
NM_170707.2(LMNA):c.784delG (p.Glu262Serfs) rs886041211
NM_170707.2(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.2(LMNA):c.835delG (p.Glu279Argfs) rs1064794966
NM_170707.2(LMNA):c.871G>A (p.Glu291Lys) rs794728594
NM_170707.2(LMNA):c.958delC (p.Leu320Phefs) rs397517915
NM_170707.2(LMNA):c.973dupG (p.Asp325Glyfs) rs794728609
NM_170707.2(LMNA):c.978_979delAC (p.Leu327Glyfs) rs794728610
NM_170707.2(LMNA):c.992G>A (p.Arg331Gln) rs59301204
NM_170707.3(LMNA):c.(?_1)_(356_?)del (p.(?))
NM_170707.3(LMNA):c.1003delC (p.Arg335Glyfs) rs1553265660
NM_170707.3(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.3(LMNA):c.1057C>T (p.Gln353Ter) rs267607623
NM_170707.3(LMNA):c.1063C>T (p.Gln355Ter) rs267607617
NM_170707.3(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.3(LMNA):c.1081G>A (p.Glu361Lys) rs267607634
NM_170707.3(LMNA):c.1086delT (p.Leu363Trpfs) rs58389804
NM_170707.3(LMNA):c.1112_1115dup (p.Glu372Aspfs) rs397517888
NM_170707.3(LMNA):c.1119C>G (p.Ile373Met)
NM_170707.3(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.3(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.3(LMNA):c.1139T>C (p.Leu380Ser) rs121912495
NM_170707.3(LMNA):c.1142delA (p.Glu381Glyfs) rs1553265760
NM_170707.3(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.3(LMNA):c.1157+1G>A rs267607590
NM_170707.3(LMNA):c.1157G>A (p.Arg386Lys) rs267607545
NM_170707.3(LMNA):c.1157G>C (p.Arg386Thr) rs267607545
NM_170707.3(LMNA):c.116A>G (p.Asn39Ser) rs57983345
NM_170707.3(LMNA):c.1184C>A (p.Ser395Ter)
NM_170707.3(LMNA):c.1195C>T (p.Arg399Cys) rs58672172
NM_170707.3(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.3(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.3(LMNA):c.1304_1307dupGCAC (p.Ser437Hisfs) rs267607577
NM_170707.3(LMNA):c.1318G>A (p.Val440Met) rs121912493
NM_170707.3(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.3(LMNA):c.1366A>G (p.Asn456Asp) rs267607599
NM_170707.3(LMNA):c.1380+1G>A rs267607552
NM_170707.3(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.3(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.3(LMNA):c.1436delT (p.Leu479Argfs) rs1553266024
NM_170707.3(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.3(LMNA):c.1477C>T (p.Gln493Ter) rs56699480
NM_170707.3(LMNA):c.1488+1G>A rs267607640
NM_170707.3(LMNA):c.1494G>A (p.Trp498Ter) rs57730570
NM_170707.3(LMNA):c.1516delC (p.His506Thrfs)
NM_170707.3(LMNA):c.1559G>A (p.Trp520Ter) rs58362413
NM_170707.3(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.3(LMNA):c.1580G>A (p.Arg527His) rs57520892
NM_170707.3(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.3(LMNA):c.1582A>C (p.Thr528Pro) rs1187380696
NM_170707.3(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.3(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.3(LMNA):c.1585G>A (p.Ala529Thr) rs121912494
NM_170707.3(LMNA):c.1586C>T (p.Ala529Val) rs60580541
NM_170707.3(LMNA):c.1588C>T (p.Leu530Phe) rs780302064
NM_170707.3(LMNA):c.1589T>C (p.Leu530Pro) rs60934003
NM_170707.3(LMNA):c.1608+1G>A rs267607592
NM_170707.3(LMNA):c.1608+5G>C rs267607539
NM_170707.3(LMNA):c.1609-12T>G rs267607582
NM_170707.3(LMNA):c.1609-3C>G rs267607581
NM_170707.3(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.3(LMNA):c.1620G>A (p.Met540Ile) rs483352811
NM_170707.3(LMNA):c.1621C>G (p.Arg541Gly) rs56984562
NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.3(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.3(LMNA):c.1626G>C (p.Lys542Asn) rs56673169
NM_170707.3(LMNA):c.1699_1968del270 (p.Gly567_Gln656del) rs1553266460
NM_170707.3(LMNA):c.169G>C (p.Ala57Pro) rs28928903
NM_170707.3(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.3(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.3(LMNA):c.1745G>A (p.Arg582His) rs57830985
NM_170707.3(LMNA):c.176T>G (p.Leu59Arg) rs58922911
NM_170707.3(LMNA):c.1771T>A (p.Cys591Ser) rs797044486
NM_170707.3(LMNA):c.1786G>A (p.Asp596Asn) rs769561386
NM_170707.3(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.3(LMNA):c.1821G>A (p.Val607=) rs59886214
NM_170707.3(LMNA):c.1822G>A (p.Gly608Ser) rs61064130
NM_170707.3(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.3(LMNA):c.1868C>G (p.Thr623Ser) rs59267781
NM_170707.3(LMNA):c.1908C>T (p.Ser636=) rs80356814
NM_170707.3(LMNA):c.1961dupG (p.Thr655Asnfs) rs863225024
NM_170707.3(LMNA):c.1968+1G>A rs113436208
NM_170707.3(LMNA):c.1968+1G>C rs113436208
NM_170707.3(LMNA):c.1968+2T>A rs113860699
NM_170707.3(LMNA):c.1968+2T>C rs113860699
NM_170707.3(LMNA):c.1968+5G>A rs797044488
NM_170707.3(LMNA):c.1968+5G>C rs797044488
NM_170707.3(LMNA):c.1968G>A (p.Gln656=) rs797044487
NM_170707.3(LMNA):c.244G>A (p.Glu82Lys) rs59270054
NM_170707.3(LMNA):c.248_251dup (p.Glu84Aspfs) rs1553261982
NM_170707.3(LMNA):c.254T>G (p.Leu85Arg) rs28933090
NM_170707.3(LMNA):c.266G>T (p.Arg89Leu) rs59040894
NM_170707.3(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.3(LMNA):c.305T>C (p.Leu102Pro) rs1553262007
NM_170707.3(LMNA):c.348_349insG (p.Lys117Glufs) rs267607646
NM_170707.3(LMNA):c.356+1G>A rs794728589
NM_170707.3(LMNA):c.381_383delGATinsTGGTCACCTGAGAG (p.Ile128Glyfs) rs794728605
NM_170707.3(LMNA):c.391C>T (p.Gln131Ter) rs1553264593
NM_170707.3(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.3(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.3(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.3(LMNA):c.3G>A (p.Met1Ile) rs794728598
NM_170707.3(LMNA):c.419T>G (p.Leu140Arg) rs60652225
NM_170707.3(LMNA):c.428C>T (p.Ser143Phe) rs58912633
NM_170707.3(LMNA):c.433G>A (p.Glu145Lys) rs60310264
NM_170707.3(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.3(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.3(LMNA):c.4G>T (p.Glu2Ter)
NM_170707.3(LMNA):c.513+45T>G rs878853220
NM_170707.3(LMNA):c.568C>T (p.Arg190Trp) rs59026483
NM_170707.3(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.3(LMNA):c.586_596delAGGCTGCAGAC (p.Arg196Hisfs) rs794728607
NM_170707.3(LMNA):c.592C>T (p.Gln198Ter) rs1553265165
NM_170707.3(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.3(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.3(LMNA):c.624_626delGAA (p.Lys208del) rs267607540
NM_170707.3(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.3(LMNA):c.65_66delCGinsT (p.Ser22Phefs) rs886043745
NM_170707.3(LMNA):c.667G>A (p.Glu223Lys) rs797044485
NM_170707.3(LMNA):c.688G>A (p.Asp230Asn) rs61214927
NM_170707.3(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.3(LMNA):c.710T>C (p.Phe237Ser) rs730880132
NM_170707.3(LMNA):c.73delC (p.Arg25Alafs)
NM_170707.3(LMNA):c.744_745delGCinsTT (p.Arg249Trp) rs1553265342
NM_170707.3(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.3(LMNA):c.810+1G>C rs267607632
NM_170707.3(LMNA):c.810+31_1322del
NM_170707.3(LMNA):c.82C>T (p.Arg28Trp) rs59914820
NM_170707.3(LMNA):c.832G>C (p.Ala278Pro) rs1553265433
NM_170707.3(LMNA):c.840_845del (p.Arg280_Asn281del) rs1553265436
NM_170707.3(LMNA):c.859delG (p.Ala287Leufs) rs59564495
NM_170707.3(LMNA):c.877C>T (p.Gln293Ter) rs1553265455
NM_170707.3(LMNA):c.892C>T (p.Arg298Cys) rs59885338
NM_170707.3(LMNA):c.908_909delCT (p.Ser303Cysfs) rs59684335
NM_170707.3(LMNA):c.91G>A (p.Glu31Lys)
NM_170707.3(LMNA):c.928C>T (p.Gln310Ter) rs878855234
NM_170707.3(LMNA):c.936+1G>A rs267607588
NM_170707.3(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_170707.3(LMNA):c.949G>T (p.Glu317Ter) rs56816490
NM_170707.3(LMNA):c.94_96delAAG (p.Lys32del) rs60872029
NM_170707.3(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.3(LMNA):c.967_968delCT (p.Leu323Glyfs) rs876661352
NM_170707.3(LMNA):c.988G>T (p.Glu330Ter) rs1060502211
NM_170707.3(LMNA):c.991_992delCG (p.Arg331Glyfs) rs1553265647

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.