ClinVar Miner

List of variants in gene LMNA reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
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.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter) rs1064796677
NM_170707.4(LMNA):c.1086del (p.Leu363fs) rs58389804
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) rs397517888
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.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1150del (p.Glu384fs) rs879253913
NM_170707.4(LMNA):c.1157+1G>T rs267607590
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys) rs267607545
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser) rs57983345
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1296_1299GCAC[4] (p.Ser437fs) rs267607577
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1368C>A (p.Asn456Lys) rs61235244
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter) rs794728613
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) rs56699480
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_170707.4(LMNA):c.1524_1534dup (p.Leu512fs) rs1553266098
NM_170707.4(LMNA):c.1540T>C (p.Trp514Arg) rs879254082
NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter) rs794728595
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892
NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro) rs1187380696
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1609-1G>A rs111569862
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.1622G>C (p.Arg541Pro) rs61444459
NM_170707.4(LMNA):c.1629_1636del (p.Val544fs) rs1064793674
NM_170707.4(LMNA):c.162_163del (p.Asn56fs) rs879253932
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.348dup (p.Lys117fs) rs267607646
NM_170707.4(LMNA):c.356+1G>A rs794728589
NM_170707.4(LMNA):c.356+1G>C rs794728589
NM_170707.4(LMNA):c.381_383delinsTGGTCACCTGAGAG (p.Ile128fs) rs794728605
NM_170707.4(LMNA):c.3G>A (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.412G>A (p.Glu138Lys) rs267607649
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro) rs61661343
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.48del (p.Ser17fs) rs794726921
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.513+1G>A rs397517904
NM_170707.4(LMNA):c.522del (p.Ala175fs) rs794728606
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.586_596del (p.Arg196fs) rs794728607
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.640-10A>G rs80356807
NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs) rs886043745
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) rs730880132
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
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.768G>A (p.Val256=) rs794728593
NM_170707.4(LMNA):c.778_780AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.784del (p.Glu262fs) rs886041211
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.835del (p.Glu279fs) rs1064794966
NM_170707.4(LMNA):c.859del (p.Ala287fs) rs59564495
NM_170707.4(LMNA):c.871G>A (p.Glu291Lys) rs794728594
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs) rs797044758
NM_170707.4(LMNA):c.904_905CT[2] (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_170707.4(LMNA):c.949G>T (p.Glu317Ter) rs56816490
NM_170707.4(LMNA):c.94_96del (p.Lys32del) rs60872029
NM_170707.4(LMNA):c.958del (p.Leu320fs) rs397517915
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.967_968del (p.Leu323fs) rs876661352
NM_170707.4(LMNA):c.973dup (p.Asp325fs) rs794728609
NM_170707.4(LMNA):c.978_979del (p.Leu327fs) rs794728610
NM_170707.4(LMNA):c.978dup (p.Leu327fs) rs1553265630
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204

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