ClinVar Miner

List of variants in gene LMNA reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NC_000001.10:g.(?_156084690)_(156096034_?)del
NC_000001.10:g.(?_156084690)_(156109650_?)del
NC_000001.10:g.(?_156084700)_(156085075_?)del
NC_000001.10:g.(?_156104184)_(156108907_?)del
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1003del (p.Arg335fs) rs1553265660
NM_170707.4(LMNA):c.1030del (p.Glu344fs)
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter) rs267607623
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter) rs267607617
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) rs397517888
NM_170707.4(LMNA):c.1119C>G (p.Ile373Met) rs1340894696
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1142del (p.Glu381fs) rs1553265760
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser) rs57983345
NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)
NM_170707.4(LMNA):c.11C>G (p.Pro4Arg) rs267607620
NM_170707.4(LMNA):c.11dup (p.Ser5fs)
NM_170707.4(LMNA):c.121C>A (p.Arg41Ser)
NM_170707.4(LMNA):c.1264G>T (p.Glu422Ter)
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp) rs267607637
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp) rs267607599
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.1436del (p.Leu479fs) rs1553266024
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.4(LMNA):c.1516del (p.His506fs) rs1558133157
NM_170707.4(LMNA):c.1541G>A (p.Trp514Ter)
NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg) rs267607557
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.1580_1586del (p.Arg527fs)
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.158A>G (p.Glu53Gly) rs60290646
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1657dup (p.Asp553fs)
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) rs59270054
NM_170707.4(LMNA):c.248_251dup (p.Glu84fs) rs1553261982
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu) rs59040894
NM_170707.4(LMNA):c.348dup (p.Lys117fs) rs267607646
NM_170707.4(LMNA):c.356+1G>A rs794728589
NM_170707.4(LMNA):c.357-2A>G
NM_170707.4(LMNA):c.381_383delinsTGGTCACCTGAGAG (p.Ile128fs) rs794728605
NM_170707.4(LMNA):c.391C>T (p.Gln131Ter) rs1553264593
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.4(LMNA):c.3G>A (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.4G>T (p.Glu2Ter) rs1558115754
NM_170707.4(LMNA):c.52_53dup (p.Thr19fs) rs1553261855
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.592C>T (p.Gln198Ter) rs1553265165
NM_170707.4(LMNA):c.601A>T (p.Lys201Ter)
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.729dup (p.Ala244fs) rs1553265328
NM_170707.4(LMNA):c.73del (p.Arg25fs) rs1558115970
NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp) rs1553265342
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.810+32_1323del
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp) rs59914820
NM_170707.4(LMNA):c.877C>T (p.Gln293Ter) rs1553265455
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs) rs797044758
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338
NM_170707.4(LMNA):c.904_905CT[2] (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.91G>A (p.Glu31Lys) rs1228406418
NM_170707.4(LMNA):c.91_93del (p.Glu31del) rs864309525
NM_170707.4(LMNA):c.928C>T (p.Gln310Ter) rs878855234
NM_170707.4(LMNA):c.936+1G>A rs267607588
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)
NM_170707.4(LMNA):c.94_96del (p.Lys32del) rs60872029
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.988G>T (p.Glu330Ter) rs1060502211
NM_170707.4(LMNA):c.991_992del (p.Arg331fs) rs1553265647

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