Full data view for 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     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ c.16C>T p.(Gln6*) stop_gained - 1/10 - r.(?) - 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.(=) - 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) 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) 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) 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) 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) 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) Unknown subst g.156084998A>G - 4.900 - LMNA_000044 MSCV_0001607 rs59065411 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. c.348_349insGA p.(Lys117Glufs*12) frameshift_variant - 1/10 - r.(?) - 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) 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) 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) 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) 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? - 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) Unknown subst g.156104600T>C - 5.270 - LMNA_000033 MSCV_0001623 rs61295588 - ; clinvar; 20301717 - - - - - - - - - - - - - - - - - - -
+/+ c.673C>T p.(Arg225*) stop_gained - 4/12 - r.(?) - 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.(?) - 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) Unknown subst g.156104705C>T - 4.540 - LMNA_000036 MSCV_0001626 rs397517907 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? c.762del p.(Gln255Argfs*225) - - - - r.(?) - Unknown del g.156104718del - 3.620 - LMNA_000009 MSCV_0001627 rs397517908 - ; - - - - - - - - - - - - - - - - - - - -
+?/+? c.781_783del p.(Lys261del) - - - - r.(?) - Unknown del g.156104737_156104739del - - - LMNA_000010 MSCV_0001628 rs58978449 - ; clinvar; 11503164;10908904;10939567 - - - - - - - - - - - - - - - - - - -
+?/+? c.784G>T p.(Glu262*) stop_gained - 4/12 - r.(?) - 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) 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) 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) Unknown subst g.156105704G>A - 5.670 - LMNA_000014 MSCV_0001632 rs56816490 - ; clinvar; 11897440;18926329;19318026 - - - - - - - - - - - - - - - - - - -
+/+ c.958del p.(Leu320Phefs*160) - - - - r.(?) - Unknown del g.156105713del - 5.670 - LMNA_000015 MSCV_0001633 rs56771886 - ; clinvar; 10662742;20301717 - - - - - - - - - - - - - - - - - - -
+/+ c.959del p.(Arg321Glufs*159) - - - - r.(?) - Unknown del g.156105714del - 5.670 - LMNA_000016 MSCV_0001634 rs56771886 - ; clinvar; 10662742;20301717 - - - - - - - - - - - - - - - - - - -
+/+ c.961C>T p.(Arg321*) stop_gained - 6/12 - r.(?) - 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) 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) 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) 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) 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) Unknown subst g.156105861T>C - 4.160 - LMNA_000022 MSCV_0001640 rs397517886 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? c.1111_1112insTGGA p.(Glu372Aspfs*55) frameshift_variant - 6/12 - r.(?) - Unknown ins g.156105866_156105867insTGGA - - - LMNA_000023 MSCV_0001641 rs397517888 - ; 18585512 - - - - - - - - - - - - - - - - - - -
+?/+? c.1111_1125del p.(Met371_Ala375del) - - - - r.(?) - 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) 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) 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) 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.(=) - Unknown subst g.156105901C>T - 3.320 - LMNA_000028 MSCV_0001646 rs57508089 - ; clinvar; 17377071 - - - - - - - - - - - - - - - - - - -
-?/-? c.1157+16G>A p.(=) - - - - r.(=) - 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) 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) 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) 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) 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) 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) 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) Unknown subst g.156107457C>T - 4.630 - LMNA_000005 MSCV_0001654 rs56984562 - ; clinvar; 21085127;18031519;14675861;15372542;19167105 - - - - - - - - - - - - - - - - - - -
+/+ c.1698+13C>A p.(=) - - - - r.(=) - Unknown subst g.156107547C>A - 5.600 - LMNA_000006 MSCV_0001655 rs80338938 - ; clinvar; 10580070;20301717 - - - - - - - - - - - - - - - - - - -
+/+ c.1698+13C>T p.(=) - - - - r.(=) - 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) Unknown subst g.156108298C>T - 5.500 - LMNA_000008 MSCV_0001657 rs60890628 - ; clinvar; 16809772;18926329;12628721;16278265;17250669;17377071 - - - - - - - - - - - - - - - - - - -
Legend