Full data view for gene LMNA

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

60 entries on 1 page. Showing entries 1 - 60.
Legend  

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     

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 rs61046466 - ; clinvar; 10080180;11138304;20301717 - - - - - - - - - - - - - - - - - - -
-/- c.51C>T p.(=) synonymous_variant - 1/10 - r.(=) - Unknown subst g.156084760C>T - 2.890 - LMNA_000038 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 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 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 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 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 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 rs59065411 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. c.348_349insGA p.(Lys117Glufs*12) frameshift_variant - 1/10 - r.(?) - Unknown ins g.156085057_156085058insGA - - - LMNA_000045 - - ; - - - - - - - - - - - - - - - - - - - -
+?/+? 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 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 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 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 rs267607594 - ; clinvar; 18816602;10662742 - - - - - - - - - - - - - - - - - - -
+?/+? c.513+1G>C p.? splice_donor_variant - - - r.spl? - Unknown subst g.156100565G>C - 5.590 - LMNA_000050 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 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 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 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 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 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 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 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 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 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 rs61295588 - ; clinvar; 20301717 - - - - - - - - - - - - - - - - - - -
+/+ c.673C>T p.(Arg225*) stop_gained - 4/12 - r.(?) - Unknown subst g.156104629C>T - 5.270 - LMNA_000034 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 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 rs397517907 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? c.762del p.(Gln255Argfs*225) - - - - r.(?) - Unknown del g.156104718del - 3.620 - LMNA_000009 rs397517908 - ; - - - - - - - - - - - - - - - - - - - -
+?/+? c.781_783del p.(Lys261del) - - - - r.(?) - Unknown del g.156104737_156104739del - - - LMNA_000010 rs58978449 - ; clinvar; 11503164;10908904;10939567 - - - - - - - - - - - - - - - - - - -
+?/+? c.784G>T p.(Glu262*) stop_gained - 4/12 - r.(?) - Unknown subst g.156104740G>T - 5.580 - LMNA_000011 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 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 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 rs56816490 - ; clinvar; 11897440;18926329;19318026 - - - - - - - - - - - - - - - - - - -
+/+ c.958del p.(Leu320Phefs*160) - - - - r.(?) - Unknown del g.156105713del - 5.670 - LMNA_000015 rs56771886 - ; clinvar; 10662742;20301717 - - - - - - - - - - - - - - - - - - -
+/+ c.959del p.(Arg321Glufs*159) - - - - r.(?) - Unknown del g.156105714del - 5.670 - LMNA_000016 rs56771886 - ; clinvar; 10662742;20301717 - - - - - - - - - - - - - - - - - - -
+/+ c.961C>T p.(Arg321*) stop_gained - 6/12 - r.(?) - Unknown subst g.156105716C>T - 2.630 - LMNA_000017 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 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 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 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 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 rs397517886 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? c.1111_1112insTGGA p.(Glu372Aspfs*55) frameshift_variant - 6/12 - r.(?) - Unknown ins g.156105866_156105867insTGGA - - - LMNA_000023 rs397517888 - ; 18585512 - - - - - - - - - - - - - - - - - - -
+?/+? c.1111_1125del p.(Met371_Ala375del) - - - - r.(?) - Unknown del g.156105866_156105880del - - - LMNA_000024 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 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 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 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 rs57508089 - ; clinvar; 17377071 - - - - - - - - - - - - - - - - - - -
-?/-? c.1157+16G>A p.(=) - - - - r.(=) - Unknown subst g.156105928G>A - -4.320 - LMNA_000029 rs534807 - ; clinvar; 23757202 - - - - - - - - - - - - - - - - - - -
./. c.1311C>T - - - - - - - Unknown - g.156106158C>T - - - LMNA_000060 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? 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 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 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 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 rs11575937 - ; clinvar; 10999845;11792809;16181372;16415042;19011997;11078466;10999791;10655060;10587585;10739751;{PMID - - - - - - - - - - - - - - - - - - -
./. c.1490T>C - - - - - - - Unknown - g.156106905T>C - - - LMNA_000059 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? 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 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 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 rs56984562 - ; clinvar; 21085127;18031519;14675861;15372542;19167105 - - - - - - - - - - - - - - - - - - -
+/+ c.1698+13C>A p.(=) - - - - r.(=) - Unknown subst g.156107547C>A - 5.600 - LMNA_000006 rs80338938 - ; clinvar; 10580070;20301717 - - - - - - - - - - - - - - - - - - -
+/+ c.1698+13C>T p.(=) - - - - r.(=) - Unknown subst g.156107547C>T - 5.600 - LMNA_000007 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 rs60890628 - ; clinvar; 16809772;18926329;12628721;16278265;17250669;17377071 - - - - - - - - - - - - - - - - - - -
Legend