View all transcript variants in gene LMNA

Information The variants shown are described using the NM_170707.3 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.16C>T p.(Gln6*) stop_gained - 1/10 - r.(?) - 1 Unknown subst g.156084725C>T - 4.810 - LMNA_000037 MSCV_0001600 rs61046466 - ; clinvar; 10080180;11138304;20301717 - - -
-/- c.51C>T p.(=) synonymous_variant - 1/10 - r.(=) - 1 Unknown subst g.156084760C>T - 2.890 - LMNA_000038 MSCV_0001601 rs11549668 - ; clinvar; 23757202 - - -
+?/+? c.154C>G p.(Leu52Val) missense_variant - 1/10 probably_damaging(0.99) r.(?) deleterious(0.01) 1 Unknown subst g.156084863C>G - 4.770 - LMNA_000039 MSCV_0001602 rs397517895 - ; clinvar; - - - -
+/+ c.178C>G p.(Arg60Gly) missense_variant - 1/10 benign(0.168) r.(?) tolerated(0.19) 1 Unknown subst g.156084887C>G - 3.870 - LMNA_000040 MSCV_0001603 rs28928900 - ; clinvar; 12196663;10580070;19768759;23427149;20041886 - - -
+/+ c.254T>G p.(Leu85Arg) missense_variant - 1/10 probably_damaging(0.999) r.(?) deleterious(0) 1 Unknown subst g.156084963T>G - 4.770 - LMNA_000041 MSCV_0001604 rs28933090 - ; clinvar; 10580070 - - -
+?/+? c.266G>A p.(Arg89His) missense_variant - 1/10 probably_damaging(0.993) r.(?) deleterious(0) 1 Unknown subst g.156084975G>A - 3.870 - LMNA_000042 MSCV_0001605 rs59040894 - ; clinvar; - - - -
+?/+? c.266G>T p.(Arg89Leu) missense_variant - 1/10 probably_damaging(1) r.(?) deleterious(0) 1 Unknown subst g.156084975G>T - 3.870 - LMNA_000043 MSCV_0001606 rs59040894 - ; clinvar; - - - -
+?/+? c.289A>G p.(Lys97Glu) missense_variant - 1/10 possibly_damaging(0.729) r.(?) deleterious(0.04) 1 Unknown subst g.156084998A>G - 4.900 - LMNA_000044 MSCV_0001607 rs59065411 - ; clinvar; - - - -
./. c.348_349insGA p.(Lys117Glufs*12) frameshift_variant - 1/10 - r.(?) - 1 Unknown ins g.156085057_156085058insGA - - - LMNA_000045 MSCV_0001608 - - ; - - - -
+?/+? c.427T>C p.(Ser143Pro) missense_variant - 2/12 probably_damaging(0.978) r.(?) deleterious(0.03) 1 Unknown subst g.156100478T>C - 5.590 - LMNA_000046 MSCV_0001609 rs61661343 - ; clinvar; - - - -
+?/+? c.448A>C p.(Thr150Pro) missense_variant - 2/12 probably_damaging(0.995) r.(?) deleterious(0) 1 Unknown subst g.156100499A>C - 5.590 - LMNA_000047 MSCV_0001610 rs58917027 - ; clinvar; 20848652;10908904 - - -
+/+ c.481G>A p.(Glu161Lys) missense_variant - 2/12 possibly_damaging(0.625) r.(?) tolerated(0.07) 1 Unknown subst g.156100532G>A - 5.590 - LMNA_000048 MSCV_0001611 rs28933093 - ; clinvar; 12920062;17334235;18795223;18926329 - - -
+?/+? c.485T>C p.(Leu162Pro) missense_variant - 2/12 possibly_damaging(0.797) r.(?) deleterious(0.01) 1 Unknown subst g.156100536T>C - 5.590 - LMNA_000049 MSCV_0001612 rs267607594 - ; clinvar; 18816602;10662742 - - -
+?/+? c.513+1G>C p.? splice_donor_variant - - - r.spl? - 1 Unknown subst g.156100565G>C - 5.590 - LMNA_000050 MSCV_0001613 rs397517904 - ; clinvar; 23360689 - - -
+?/+? c.568C>T p.(Arg190Trp) missense_variant - 3/12 possibly_damaging(0.908) r.(?) deleterious(0) 1 Unknown subst g.156104248C>T - 4.440 - LMNA_000051 MSCV_0001614 rs59026483 - ; clinvar; - - - -
+?/+? c.575A>G p.(Asp192Gly) missense_variant - 3/12 probably_damaging(0.998) r.(?) deleterious(0.02) 1 Unknown subst g.156104255A>G - 5.440 - LMNA_000052 MSCV_0001615 rs57045855 - ; clinvar; - - - -
+?/+? c.575A>T p.(Asp192Val) missense_variant - 3/12 probably_damaging(0.999) r.(?) deleterious(0) 1 Unknown subst g.156104255A>T - 5.440 - LMNA_000053 MSCV_0001616 rs57045855 - ; clinvar; - - - -
+/+ c.585C>A p.(Asn195Lys) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0) 1 Unknown subst g.156104265C>A - 5.440 - LMNA_000054 MSCV_0001617 rs28933091 - ; clinvar; 23644458;10580070;11792810;18035086;11792809;15972724;20301717 - - -
+/+ c.585C>G p.(Asn195Lys) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0) 1 Unknown subst g.156104265C>G - 5.440 - LMNA_000055 MSCV_0001618 rs28933091 - ; clinvar; 23644458;10580070;11792810;18035086;11792809;15972724;20301717 - - -
+/+ c.607G>A p.(Glu203Lys) missense_variant - 3/12 possibly_damaging(0.679) r.(?) deleterious(0.03) 1 Unknown subst g.156104287G>A - 5.440 - LMNA_000056 MSCV_0001619 rs61195471 - ; clinvar; 18606848;20160190;11561226;20301717 - - -
+/+ c.608A>G p.(Glu203Gly) missense_variant - 3/12 probably_damaging(0.988) r.(?) deleterious(0) 1 Unknown subst g.156104288A>G - 5.440 - LMNA_000057 MSCV_0001620 rs28933092 - ; clinvar; 10580070;11561226;11792809;18606848 - - -
+/+ c.608A>T p.(Glu203Val) missense_variant - 3/12 probably_damaging(0.992) r.(?) deleterious(0) 1 Unknown subst g.156104288A>T - 5.440 - LMNA_000058 MSCV_0001621 rs28933092 - ; clinvar; 10580070;11561226;11792809;18606848 - - -
+?/+? c.629T>G p.(Ile210Ser) missense_variant - 3/12 probably_damaging(0.93) r.(?) deleterious(0) 1 Unknown subst g.156104309T>G - 5.440 - LMNA_000032 MSCV_0001622 rs267607572 - ; clinvar; 20160190;18585512 - - -
+/+ c.644T>C p.(Leu215Pro) missense_variant - 4/12 probably_damaging(0.968) r.(?) deleterious(0) 1 Unknown subst g.156104600T>C - 5.270 - LMNA_000033 MSCV_0001623 rs61295588 - ; clinvar; 20301717 - - -
+/+ c.673C>T p.(Arg225*) stop_gained - 4/12 - r.(?) - 1 Unknown subst g.156104629C>T - 5.270 - LMNA_000034 MSCV_0001624 rs60682848 - ; clinvar; 18035086;21315846;11561226;19638735;19882644;20301717 - - -
+?/+? c.700C>T p.(Gln234*) stop_gained - 4/12 - r.(?) - 1 Unknown subst g.156104656C>T - 5.450 - LMNA_000035 MSCV_0001625 rs267607573 - ; clinvar; 18585512 - - -
+?/+? c.749C>T p.(Ala250Val) missense_variant - 4/12 benign(0.102) r.(?) tolerated(0.26) 1 Unknown subst g.156104705C>T - 4.540 - LMNA_000036 MSCV_0001626 rs397517907 - ; clinvar; - - - -
?/? c.762del p.(Gln255Argfs*225) - - - - r.(?) - 1 Unknown del g.156104718del - 3.620 - LMNA_000009 MSCV_0001627 rs397517908 - ; - - - -
+?/+? c.781_783del p.(Lys261del) - - - - r.(?) - 1 Unknown del g.156104737_156104739del - - - LMNA_000010 MSCV_0001628 rs58978449 - ; clinvar; 11503164;10908904;10939567 - - -
+?/+? c.784G>T p.(Glu262*) stop_gained - 4/12 - r.(?) - 1 Unknown subst g.156104740G>T - 5.580 - LMNA_000011 MSCV_0001629 rs397517909 - ; clinvar; 11138304 - - -
+/+ c.799T>C p.(Tyr267His) missense_variant - 4/12 probably_damaging(0.99) r.(?) deleterious(0) 1 Unknown subst g.156104755T>C - 5.580 - LMNA_000012 MSCV_0001630 rs267607593 - ; clinvar; 14684700;18337098 - - -
+?/+? c.863C>G p.(Ala288Gly) missense_variant - 5/12 benign(0.073) r.(?) deleterious(0) 1 Unknown subst g.156105030C>G - 5.600 - LMNA_000013 MSCV_0001631 rs397517911 - ; clinvar; - - - -
+?/+? c.949G>A p.(Glu317Lys) missense_variant - 6/12 probably_damaging(0.98) r.(?) deleterious(0.01) 1 Unknown subst g.156105704G>A - 5.670 - LMNA_000014 MSCV_0001632 rs56816490 - ; clinvar; 11897440;18926329;19318026 - - -
+/+ c.958del p.(Leu320Phefs*160) - - - - r.(?) - 1 Unknown del g.156105713del - 5.670 - LMNA_000015 MSCV_0001633 rs56771886 - ; clinvar; 10662742;20301717 - - -
+/+ c.959del p.(Arg321Glufs*159) - - - - r.(?) - 1 Unknown del g.156105714del - 5.670 - LMNA_000016 MSCV_0001634 rs56771886 - ; clinvar; 10662742;20301717 - - -
+/+ c.961C>T p.(Arg321*) stop_gained - 6/12 - r.(?) - 1 Unknown subst g.156105716C>T - 2.630 - LMNA_000017 MSCV_0001635 rs267607554 - ; clinvar; 16715312;19875404 - - -
+?/+? c.976T>A p.(Ser326Thr) missense_variant - 6/12 benign(0.004) r.(?) tolerated(0.95) 1 Unknown subst g.156105731T>A - 3.340 - LMNA_000018 MSCV_0001636 rs56851164 - ; clinvar; 16407522;16585054 - - -
+?/+? c.992G>A p.(Arg331Gln) missense_variant - 6/12 probably_damaging(0.979) r.(?) deleterious(0.05) 1 Unknown subst g.156105747G>A - 5.670 - LMNA_000019 MSCV_0001637 rs59301204 - ; clinvar; 17377071;19875404 - - -
+?/+? c.992G>C p.(Arg331Pro) missense_variant - 6/12 probably_damaging(0.996) r.(?) deleterious(0) 1 Unknown subst g.156105747G>C - 5.670 - LMNA_000020 MSCV_0001638 rs59301204 - ; clinvar; 17377071;19875404 - - -
+?/+? c.1003C>T p.(Arg335Trp) missense_variant - 6/12 probably_damaging(0.997) r.(?) deleterious(0) 1 Unknown subst g.156105758C>T - 5.870 - LMNA_000021 MSCV_0001639 rs386134243 - ; clinvar; 22224630 - - -
+?/+? c.1106T>C p.(Leu369Pro) missense_variant - 6/12 probably_damaging(1) r.(?) deleterious(0) 1 Unknown subst g.156105861T>C - 4.160 - LMNA_000022 MSCV_0001640 rs397517886 - ; clinvar; - - - -
?/? c.1111_1112insTGGA p.(Glu372Aspfs*55) frameshift_variant - 6/12 - r.(?) - 1 Unknown ins g.156105866_156105867insTGGA - - - LMNA_000023 MSCV_0001641 rs397517888 - ; 18585512 - - -
+?/+? c.1111_1125del p.(Met371_Ala375del) - - - - r.(?) - 1 Unknown del g.156105866_156105880del - - - LMNA_000024 MSCV_0001642 rs397517887 - ; clinvar; - - - -
+?/+? c.1129C>T p.(Arg377Cys) missense_variant - 6/12 probably_damaging(1) r.(?) deleterious(0) 1 Unknown subst g.156105884C>T - 5.300 - LMNA_000025 MSCV_0001643 rs397517889 - ; clinvar; 16386954;21840938;10814726;12032588;12920062;16990647;20576434;21632249;16407522;18035086;{PMID - - -
+/+ c.1130G>A p.(Arg377His) missense_variant - 6/12 probably_damaging(0.969) r.(?) deleterious(0.03) 1 Unknown subst g.156105885G>A - 5.300 - LMNA_000026 MSCV_0001644 rs61672878 - ; clinvar; 12628721;12673789;10814726;12920062;17136397 - - -
+/+ c.1130G>T p.(Arg377Leu) missense_variant - 6/12 probably_damaging(0.999) r.(?) deleterious(0.03) 1 Unknown subst g.156105885G>T - 5.300 - LMNA_000027 MSCV_0001645 rs61672878 - ; clinvar; 12628721;12673789;10814726;12920062;17136397 - - -
+?/+? c.1146C>T p.(=) synonymous_variant - 6/12 - r.(=) - 1 Unknown subst g.156105901C>T - 3.320 - LMNA_000028 MSCV_0001646 rs57508089 - ; clinvar; 17377071 - - -
-?/-? c.1157+16G>A p.(=) - - - - r.(=) - 1 Unknown subst g.156105928G>A - -4.320 - LMNA_000029 MSCV_0001647 rs534807 - ; clinvar; 23757202 - - -
+?/+? c.1412G>A p.(Arg471His) missense_variant - 8/12 probably_damaging(0.996) r.(?) deleterious(0) 1 Unknown subst g.156106743G>A - 5.400 - LMNA_000030 MSCV_0001648 rs267607578 - ; clinvar; 22177269;20160190;18646565;18585512 - - -
+?/+? c.1442A>G p.(Tyr481Cys) missense_variant - 8/12 probably_damaging(0.994) r.(?) deleterious(0) 1 Unknown subst g.156106773A>G - 5.400 - LMNA_000031 MSCV_0001649 rs397517893 - ; clinvar; 11525883;16061563 - - -
+/+ c.1445G>A p.(Arg482Gln) missense_variant - 8/12 benign(0.01) r.(?) deleterious(0.04) 1 Unknown subst g.156106776G>A - 5.400 - LMNA_000001 MSCV_0001650 rs11575937 - ; clinvar; 10999845;11792809;16181372;16415042;19011997;11078466;10999791;10655060;10587585;10739751;{PMID - - -
+/+ c.1445G>T p.(Arg482Leu) missense_variant - 8/12 benign(0.187) r.(?) deleterious(0.01) 1 Unknown subst g.156106776G>T - 5.400 - LMNA_000002 MSCV_0001651 rs11575937 - ; clinvar; 10999845;11792809;16181372;16415042;19011997;11078466;10999791;10655060;10587585;10739751;{PMID - - -
+?/+? c.1621C>A p.(Arg541Ser) missense_variant - 10/12 probably_damaging(0.959) r.(?) deleterious(0.01) 1 Unknown subst g.156107457C>A - 4.630 - LMNA_000003 MSCV_0001652 rs56984562 - ; clinvar; 21085127;18031519;14675861;15372542;19167105 - - -
+?/+? c.1621C>G p.(Arg541Gly) missense_variant - 10/12 probably_damaging(0.995) r.(?) deleterious(0) 1 Unknown subst g.156107457C>G - 4.630 - LMNA_000004 MSCV_0001653 rs56984562 - ; clinvar; 21085127;18031519;14675861;15372542;19167105 - - -
+?/+? c.1621C>T p.(Arg541Cys) missense_variant - 10/12 probably_damaging(0.998) r.(?) deleterious(0) 1 Unknown subst g.156107457C>T - 4.630 - LMNA_000005 MSCV_0001654 rs56984562 - ; clinvar; 21085127;18031519;14675861;15372542;19167105 - - -
+/+ c.1698+13C>A p.(=) - - - - r.(=) - 1 Unknown subst g.156107547C>A - 5.600 - LMNA_000006 MSCV_0001655 rs80338938 - ; clinvar; 10580070;20301717 - - -
+/+ c.1698+13C>T p.(=) - - - - r.(=) - 1 Unknown subst g.156107547C>T - 5.600 - LMNA_000007 MSCV_0001656 rs80338938 - ; clinvar; 10580070;20301717 - - -
+/+ c.1718C>T p.(Ser573Leu) missense_variant - 11/12 benign(0.178) r.(?) tolerated(0.09) 1 Unknown subst g.156108298C>T - 5.500 - LMNA_000008 MSCV_0001657 rs60890628 - ; clinvar; 16809772;18926329;12628721;16278265;17250669;17377071 - - -
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