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More than 1000 records found for search term Lmna (Displaying 1000)
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
10398662CV204464single nucleotide variantLMNA, ARG225GLNEmery-Dreifuss muscular dystrophy 3, autosomal recessive [RCV000190400]|Emery-dreifuss muscular dystrophy 3, autosomal recessive [RCV000190400]pathogenicHumanname
10401605CV205355variationLMNA, GLN656GLNHutchinson-Gilford progeria syndrome, atypical [RCV000190822]pathogenicHumanname
14352091CV608839fusionLMNA-NTRK1 fusionCongenital fibrosarcoma [RCV000754610]pathogenicHumanname
8564278CV29536single nucleotide variantLMNA, IVS9, G-C, +5Limb-girdle muscular dystrophy, type 1B [RCV000015589]pathogenicHumanname
8564286CV29544insertionLMNA, 1-BP INS, 28ADilated cardiomyopathy 1A [RCV000015599]pathogenicHuman1name , alternate_id
8564296CV29554single nucleotide variantLMNA, IVS8, G-C, +5Lipodystrophy, familial partial, type 2 [RCV000015610]pathogenicHumanname
8564293CV29551single nucleotide variantLMNA, IVS11, G-A, +1Lethal tight skin contracture syndrome [RCV000015606]|Hutchinson-Gilford syndrome [RCV000015607]pathogenicHumanname
10401606CV205356single nucleotide variantLMNA, IVS11DS, G-A, +5Hutchinson-Gilford progeria syndrome, atypical [RCV000190823]pathogenicHumanname
8564277CV29535deletionLMNA, 3-BP DEL, EXON 3Limb-girdle muscular dystrophy, type 1B [RCV000015588]pathogenicHumanname
8564302CV29560single nucleotide variantLMNA, IVS9AS, T-G, -12Heart-hand syndrome, Slovenian type [RCV000015618]pathogenicHumanname
11639762CV270508single nucleotide variantNM_170707.4(LMNA):c.-1C>ACardiomyopathy [RCV001184771]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002494855]|not provided [RCV000725824]uncertain significance1156114918156114918Human4name
11644289CV277447single nucleotide variantNM_170707.4(LMNA):c.-5C>ACharcot-Marie-Tooth disease type 2 [RCV000347563]|Congenital muscular dystrophy due to LMNA mutation [RCV000340631]|Dilated Cardiomyopathy, Dominant [RCV000391566]|Emery-Dreifuss muscular dystrophy [RCV000259413]|Familial partial lipodystrophy [RCV000313589]|Hutuncertain significance1156114914156114914Human9name
405738578CV3228815single nucleotide variantNM_170707.4(LMNA):c.-6C>TPrimary dilated cardiomyopathy [RCV004014736]uncertain significance1156114913156114913Human1name
405722477CV3231941single nucleotide variantNM_170707.4(LMNA):c.-5C>GPrimary dilated cardiomyopathy [RCV004012963]uncertain significance1156114914156114914Human1name
8610892CV57191single nucleotide variantNM_170707.4(LMNA):c.*6G>APrimary dilated cardiomyopathy [RCV003996452]|not specified [RCV000041304]uncertain significance1156139112156139112Human1name
34896017CV906396single nucleotide variantNM_170707.4(LMNA):c.-4G>ACardiomyopathy [RCV001185591]uncertain significance1156114915156114915Human2name
34901293CV906466single nucleotide variantNM_170707.4(LMNA):c.*5G>ACardiomyopathy [RCV001191474]uncertain significance1156139111156139111Human2name
150446981CV1261450single nucleotide variantNM_170707.4(LMNA):c.-98G>Cnot provided [RCV001680124]benign1156114821156114821Humanname
11644792CV276601single nucleotide variantNM_170707.4(LMNA):c.-62C>ACharcot-Marie-Tooth disease type 2 [RCV000323065]|Congenital muscular dystrophy due to LMNA mutation [RCV000319491]|Dilated Cardiomyopathy, Dominant [RCV000369092]|Emery-Dreifuss muscular dystrophy [RCV000261953]|Familial partial lipodystrophy [RCV000379964]|Hutuncertain significance1156114857156114857Human9name
11585687CV277446single nucleotide variantNM_170707.4(LMNA):c.-88G>TCharcot-Marie-Tooth disease type 2B1 [RCV000293288]|Congenital muscular dystrophy due to LMNA mutation [RCV000390806]|Dilated cardiomyopathy 1A [RCV000350000]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001101680]|Emery-Dreifuss muscular dystrophbenign|likely benign1156114831156114831Human13name
405063055CV2934264single nucleotide variantNM_170707.4(LMNA):c.-14C>TCardiomyopathy [RCV003532548]uncertain significance1156114905156114905Human2name
405736941CV3228610single nucleotide variantNM_170707.4(LMNA):c.-11A>GPrimary dilated cardiomyopathy [RCV004014529]uncertain significance1156114908156114908Human1name
407502099CV3495648single nucleotide variantNM_170707.4(LMNA):c.-17C>Anot provided [RCV004697488]uncertain significance1156114902156114902Humanname
13532255CV496593single nucleotide variantNM_170707.4(LMNA):c.-12A>Tnot specified [RCV000606737]uncertain significance1156114907156114907Humanname
13539212CV498068single nucleotide variantNM_170707.4(LMNA):c.-28C>Tnot specified [RCV000612961]likely benign1156114891156114891Humanname
13529513CV498119single nucleotide variantNM_170707.4(LMNA):c.-42C>Tnot provided [RCV001698440]likely benign1156114877156114877Humanname
8622630CV77652single nucleotide variantNM_170707.4(LMNA):c.*27G>Anot provided [RCV000057211]not provided1156139133156139133Humanname
8622631CV77653single nucleotide variantNM_170707.4(LMNA):c.*79G>Cnot provided [RCV000057212]|not specified [RCV001698955]benign|not provided1156139185156139185Humanname
28879523CV862420single nucleotide variantNM_170707.4(LMNA):c.-44T>ACharcot-Marie-Tooth disease type 2B1 [RCV001096252]|Congenital muscular dystrophy due to LMNA mutation [RCV001096253]|Dilated cardiomyopathy 1A [RCV001096250]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001096251]|Emery-Dreifuss muscular dystrophuncertain significance1156114875156114875Human11name
126732616CV1000153single nucleotide variantNM_170707.4(LMNA):c.*710G>Anot provided [RCV001310874]uncertain significance1156139816156139816Humanname
150406006CV1189497single nucleotide variantNM_170707.4(LMNA):c.*130T>Gnot provided [RCV001564546]likely benign1156139236156139236Humanname
150469934CV1209232single nucleotide variantNM_170707.4(LMNA):c.*639G>Anot provided [RCV001588343]likely benign1156139745156139745Humanname
150445542CV1215512single nucleotide variantNM_170707.4(LMNA):c.*365C>Tnot provided [RCV001611105]benign1156139471156139471Humanname
150443763CV1232921single nucleotide variantNM_170707.4(LMNA):c.*393T>Cnot provided [RCV001645593]benign1156139499156139499Humanname
150431632CV1234223single nucleotide variantNM_170707.4(LMNA):c.-148C>Anot provided [RCV001641876]benign1156114771156114771Humanname
150468159CV1257014duplicationNM_170707.4(LMNA):c.*211dupnot provided [RCV001670660]benign1156139303156139304Humanname
150493888CV1257647deletionNM_170707.4(LMNA):c.*211delnot provided [RCV001675320]benign1156139304156139304Humanname
150491985CV1267866single nucleotide variantNM_170707.4(LMNA):c.*192A>Cnot provided [RCV001687892]benign1156139298156139298Humanname
150471705CV1281051single nucleotide variantNM_170707.4(LMNA):c.-147C>Anot provided [RCV001713240]benign1156114772156114772Humanname
10046793CV190106single nucleotide variantNM_170707.4(LMNA):c.*747G>Anot provided [RCV004714526]|not specified [RCV000126635]benign1156139853156139853Humanname
329350417CV2421684single nucleotide variantNM_170707.4(LMNA):c.*663G>Cnot provided [RCV003159387]uncertain significance1156139769156139769Humanname
11523558CV244240single nucleotide variantNM_170707.4(LMNA):c.*672T>Cnot specified [RCV000236119]uncertain significance1156139778156139778Humanname
11644568CV276591single nucleotide variantNM_170707.4(LMNA):c.-138T>CCharcot-Marie-Tooth disease type 2B1 [RCV000300718]|Congenital muscular dystrophy due to LMNA mutation [RCV000347305]|Dilated cardiomyopathy 1A [RCV000368285]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001096152]|Emery-Dreifuss muscular dystrophuncertain significance1156114781156114781Human12name
11644660CV276876single nucleotide variantNM_005572.3(LMNA):c.-226C>TCharcot-Marie-Tooth disease type 2B1 [RCV000265425]|Congenital muscular dystrophy due to LMNA mutation [RCV000301121]|Dilated cardiomyopathy 1A [RCV000261321]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001096027]|Emery-Dreifuss muscular dystrophuncertain significance1156114693156114693Human12name
11649849CV277430single nucleotide variantNM_005572.3(LMNA):c.-225C>ACharcot-Marie-Tooth disease type 2 [RCV000311246]|Congenital muscular dystrophy due to LMNA mutation [RCV000344756]|Dilated Cardiomyopathy, Dominant [RCV000407508]|Emery-Dreifuss muscular dystrophy [RCV000298571]|Familial partial lipodystrophy [RCV000295779]|Hutuncertain significance1156114694156114694Human9name
11645253CV277432single nucleotide variantNM_005572.3(LMNA):c.-210T>CCharcot-Marie-Tooth disease type 2B1 [RCV000329086]|Congenital muscular dystrophy due to LMNA mutation [RCV000268032]|Dilated cardiomyopathy 1A [RCV000326415]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001096151]|Emery-Dreifuss muscular dystrophuncertain significance1156114709156114709Human12name
11647488CV277433single nucleotide variantNM_170707.4(LMNA):c.-183C>ACharcot-Marie-Tooth disease type 2 [RCV000402632]|Congenital muscular dystrophy due to LMNA mutation [RCV000280598]|Dilated Cardiomyopathy, Dominant [RCV000279288]|Emery-Dreifuss muscular dystrophy [RCV000307337]|Familial partial lipodystrophy [RCV000365322]|Hutuncertain significance1156114736156114736Human9name
11647179CV277434single nucleotide variantNM_170707.4(LMNA):c.-142C>ACharcot-Marie-Tooth disease type 2 [RCV000334255]|Congenital muscular dystrophy due to LMNA mutation [RCV000367390]|Dilated Cardiomyopathy, Dominant [RCV000318600]|Emery-Dreifuss muscular dystrophy [RCV000279052]|Familial partial lipodystrophy [RCV000287177]|Hutuncertain significance1156114777156114777Human9name
11583289CV277441single nucleotide variantNM_170707.4(LMNA):c.-128T>CCharcot-Marie-Tooth disease type 2B1 [RCV000387993]|Congenital muscular dystrophy due to LMNA mutation [RCV000265737]|Dilated cardiomyopathy 1A [RCV000345153]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001099691]|Emery-Dreifuss muscular dystrophlikely benign1156114791156114791Human12name
11645836CV277445single nucleotide variantNM_170707.4(LMNA):c.-109G>TCharcot-Marie-Tooth disease type 2 [RCV000332962]|Congenital muscular dystrophy due to LMNA mutation [RCV000298025]|Dilated Cardiomyopathy, Dominant [RCV000359848]|Emery-Dreifuss muscular dystrophy [RCV000267691]|Familial partial lipodystrophy [RCV000381613]|Hutuncertain significance1156114810156114810Human9name
401942856CV2839882single nucleotide variantNM_170707.4(LMNA):c.*694A>Gnot provided [RCV003456669]likely benign1156139800156139800Humanname
12846195CV364529single nucleotide variantNM_170707.4(LMNA):c.*749G>Anot specified [RCV000441187]likely benign1156139855156139855Humanname
616936130CV4010613single nucleotide variantNM_170707.4(LMNA):c.*664A>GCardiovascular phenotype [RCV005403959]uncertain significance1156139770156139770Humanname
12899525CV404953single nucleotide variantNM_170707.4(LMNA):c.*707A>Gnot specified [RCV000480406]uncertain significance1156139813156139813Humanname
14975458CV672373single nucleotide variantNM_170707.4(LMNA):c.*722T>CCardiovascular phenotype [RCV005400749]|not specified [RCV003317389]uncertain significance1156139828156139828Humanname
28884398CV862419single nucleotide variantNM_005572.3(LMNA):c.-223C>TCharcot-Marie-Tooth disease type 2B1 [RCV001099600]|Congenital muscular dystrophy due to LMNA mutation [RCV001099598]|Dilated cardiomyopathy 1A [RCV001097799]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001097800]|Emery-Dreifuss muscular dystrophbenign|likely benign|uncertain significance1156114696156114696Human11name
126919116CV1039477single nucleotide variantNM_170707.4(LMNA):c.639+5G>CCharcot-Marie-Tooth disease type 2 [RCV001362111]uncertain significance1156134533156134533Human1name
126908435CV1039478single nucleotide variantNM_170707.4(LMNA):c.937-7C>ACardiomyopathy [RCV005401831]|Charcot-Marie-Tooth disease type 2 [RCV001367857]|not specified [RCV001820069]likely benign|uncertain significance1156135894156135894Human3name
127245217CV1054743single nucleotide variantNM_170707.4(LMNA):c.513+2T>CCharcot-Marie-Tooth disease type 2 [RCV001377378]likely pathogenic1156130775156130775Human1name
127238597CV1066295single nucleotide variantNM_170707.4(LMNA):c.357-9C>TCharcot-Marie-Tooth disease type 2 [RCV001397354]likely benign1156130608156130608Human1name
127337720CV1109552single nucleotide variantNM_170707.4(LMNA):c.811-4C>GCharcot-Marie-Tooth disease type 2 [RCV001475819]likely benign1156135183156135183Human1name
127308312CV1130453single nucleotide variantNM_170707.4(LMNA):c.357-8T>CCardiomyopathy [RCV005401845]|Cardiovascular phenotype [RCV003160946]|Charcot-Marie-Tooth disease type 2 [RCV001480589]|LMNA-related disorder [RCV004533842]|Primary dilated cardiomyopathy [RCV004007148]likely benign1156130609156130609Human4name , alternate_id
127326894CV1160080single nucleotide variantNM_170707.4(LMNA):c.810+4C>ACardiomyopathy [RCV001526276]|Charcot-Marie-Tooth disease type 2 [RCV001873700]uncertain significance1156134979156134979Human3name
150542758CV1314937single nucleotide variantNM_170707.4(LMNA):c.513+1G>Tnot provided [RCV001782389]likely pathogenic1156130774156130774Humanname
151235639CV1318988single nucleotide variantNM_170707.4(LMNA):c.937-5T>Anot provided [RCV001795804]uncertain significance1156135896156135896Humanname
151354196CV1329329single nucleotide variantNM_170707.4(LMNA):c.810+2T>CCharcot-Marie-Tooth disease type 2 [RCV002542701]|not provided [RCV001817692]pathogenic1156134977156134977Human1name
151864863CV1356722single nucleotide variantNM_170707.4(LMNA):c.811-2A>GCharcot-Marie-Tooth disease type 2 [RCV001959700]likely pathogenic1156135185156135185Human1name
151773966CV1402283single nucleotide variantNM_170707.4(LMNA):c.811-8C>TCharcot-Marie-Tooth disease type 2 [RCV001929795]likely benign1156135179156135179Human1name
152172225CV1598086single nucleotide variantNM_170707.4(LMNA):c.937-6C>ACharcot-Marie-Tooth disease type 2 [RCV002162381]|Primary dilated cardiomyopathy [RCV004011195]likely benign|uncertain significance1156135895156135895Human2name
152085805CV1617386single nucleotide variantNM_170707.4(LMNA):c.937-7C>TCharcot-Marie-Tooth disease type 2 [RCV002076965]|Primary dilated cardiomyopathy [RCV004011188]likely benign1156135894156135894Human2name
155684675CV1824967single nucleotide variantNM_170707.4(LMNA):c.937-2A>GCardiovascular phenotype [RCV002371739]likely pathogenic1156135899156135899Humanname
155684677CV1824968single nucleotide variantNM_170707.4(LMNA):c.937-3C>TCardiomyopathy [RCV003533213]|Cardiovascular phenotype [RCV002371740]likely benign|uncertain significance1156135898156135898Human2name
156311711CV1928508single nucleotide variantNM_170707.4(LMNA):c.356+2T>GCharcot-Marie-Tooth disease type 2 [RCV002648207]pathogenic1156115276156115276Human1name
10056808CV196457single nucleotide variantNM_170707.4(LMNA):c.356+1G>ACardiovascular phenotype [RCV005404350]|Charcot-Marie-Tooth disease type 2 [RCV000689313]|not provided [RCV000182355]pathogenic1156115275156115275Human1name
10401328CV205007single nucleotide variantNM_170707.4(LMNA):c.936+2T>CCardiomyopathy [RCV001798660]|Cardiovascular phenotype [RCV003165426]|Charcot-Marie-Tooth disease type 2 [RCV003743622]|Hutchinson-Gilford syndrome [RCV000986430]pathogenic|likely pathogenic|uncertain significance1156135314156135314Human4name
10406135CV213515single nucleotide variantNM_170707.4(LMNA):c.810+1G>CEmery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV000199480]pathogenic|likely pathogenic1156134976156134976Human1name
11040278CV224183single nucleotide variantNM_170707.4(LMNA):c.937-8C>ACardiomyopathy [RCV000777940]|Charcot-Marie-Tooth disease type 2 [RCV000545586]|Charcot-Marie-Tooth disease type 2B1 [RCV001096750]|Congenital muscular dystrophy due to LMNA mutation [RCV001098487]|Dilated cardiomyopathy 1A [RCV001096746]|Emery-Dreifuss muscularlikely benign|conflicting interpretations of pathogenicity|uncertain significance1156135893156135893Human15name
11092334CV228273single nucleotide variantNM_170707.4(LMNA):c.356+1G>CPrimary dilated cardiomyopathy [RCV000218409]|not provided [RCV000592631]pathogenic|likely pathogenic1156115275156115275Human1name
11523040CV244219single nucleotide variantNM_170707.4(LMNA):c.513+1G>ACardiovascular phenotype [RCV004020919]|Charcot-Marie-Tooth disease type 2 [RCV001379216]|not provided [RCV000235237]pathogenic|likely pathogenic|uncertain significance1156130774156130774Human1name
401933333CV2804032single nucleotide variantNM_170707.4(LMNA):c.936+4A>GLMNA-related disorder [RCV004531725]uncertain significance1156135316156135316Humanname , trait , alternate_id
405083846CV2863077single nucleotide variantNM_170707.4(LMNA):c.811-9C>ACharcot-Marie-Tooth disease type 2 [RCV003582318]likely benign1156135178156135178Human1name
405084101CV2877288single nucleotide variantNM_170707.4(LMNA):c.356+2T>ACharcot-Marie-Tooth disease type 2 [RCV003582339]pathogenic1156115276156115276Human1name
405088633CV2906416single nucleotide variantNM_170707.4(LMNA):c.640-7C>GCharcot-Marie-Tooth disease type 2 [RCV003582694]|Primary dilated cardiomyopathy [RCV004011425]likely benign1156134798156134798Human2name
405092816CV2925049single nucleotide variantNM_170707.4(LMNA):c.639+3G>ACharcot-Marie-Tooth disease type 2 [RCV003583025]uncertain significance1156134531156134531Human1name
405095233CV2953621single nucleotide variantNM_170707.4(LMNA):c.357-6C>GCharcot-Marie-Tooth disease type 2 [RCV003745783]likely benign1156130611156130611Human1name
405085600CV2994353single nucleotide variantNM_170707.4(LMNA):c.640-9C>GCharcot-Marie-Tooth disease type 2 [RCV003744323]uncertain significance1156134796156134796Human1name
405077836CV3023825single nucleotide variantNM_170707.4(LMNA):c.639+6G>ACharcot-Marie-Tooth disease type 2 [RCV003743262]uncertain significance1156134534156134534Human1name
405732200CV3229404duplicationNM_170707.4(LMNA):c.937-6dupPrimary dilated cardiomyopathy [RCV004013971]likely benign1156135889156135890Human1name
405725487CV3230524deletionNM_170707.4(LMNA):c.640-7delPrimary dilated cardiomyopathy [RCV004013277]likely benign1156134796156134796Human1name
405722560CV3231950single nucleotide variantNM_170707.4(LMNA):c.357-9C>APrimary dilated cardiomyopathy [RCV004012972]uncertain significance1156130608156130608Human1name
405728830CV3391195single nucleotide variantNM_170707.4(LMNA):c.356+9G>ACardiovascular phenotype [RCV004524856]likely benign1156115283156115283Humanname
407504633CV3495911deletionNM_170707.4(LMNA):c.514-1delnot provided [RCV004697751]likely pathogenic1156134402156134402Humanname
596941205CV3546138single nucleotide variantNM_170707.4(LMNA):c.514-5C>TPrimary dilated cardiomyopathy [RCV004806767]likely benign1156134398156134398Human1name
596941225CV3546143deletionNM_170707.4(LMNA):c.937-6delPrimary dilated cardiomyopathy [RCV004806772]likely benign1156135890156135890Human1name
597959051CV3797461single nucleotide variantNM_170707.4(LMNA):c.811-1G>CCharcot-Marie-Tooth disease type 2 [RCV005138148]likely pathogenic1156135186156135186Human1name
597864222CV3814153single nucleotide variantNM_170707.4(LMNA):c.937-6C>GCharcot-Marie-Tooth disease type 2 [RCV005147222]likely benign1156135895156135895Human1name
12884455CV390833single nucleotide variantNM_170707.4(LMNA):c.513+8C>TCharcot-Marie-Tooth disease type 2 [RCV001407282]likely benign1156130781156130781Human1name
12890955CV390837single nucleotide variantNM_170707.4(LMNA):c.936+7C>TCharcot-Marie-Tooth disease type 2 [RCV000475659]likely benign1156135319156135319Human1name
598238081CV3981074single nucleotide variantNM_170707.4(LMNA):c.514-2A>GCardiovascular phenotype [RCV005364192]likely pathogenic1156134401156134401Humanname
616935671CV4010250single nucleotide variantNM_170707.4(LMNA):c.811-3C>ACardiomyopathy [RCV005403551]uncertain significance1156135184156135184Human2name
13215764CV427647single nucleotide variantNM_170707.4(LMNA):c.810+4C>GCardiomyopathy [RCV005401471]|Charcot-Marie-Tooth disease type 2 [RCV001247016]|not specified [RCV000502911]uncertain significance1156134979156134979Human3name
13483987CV447315single nucleotide variantNM_170707.4(LMNA):c.936+1G>ACharcot-Marie-Tooth disease type 2 [RCV000552554]pathogenic1156135313156135313Human1name
13533891CV509113single nucleotide variantNM_170707.4(LMNA):c.513+2T>GCardiovascular phenotype [RCV000618096]|Charcot-Marie-Tooth disease type 2 [RCV003581698]|not provided [RCV000786357]likely pathogenic|uncertain significance1156130775156130775Human1name
13625797CV515117single nucleotide variantNM_170707.4(LMNA):c.937-9C>TCardiomyopathy [RCV001176893]|Cardiovascular phenotype [RCV003163011]|Charcot-Marie-Tooth disease type 2 [RCV002532007]likely benign1156135892156135892Human3name
13625728CV515280single nucleotide variantNM_170707.4(LMNA):c.937-1G>ACardiovascular phenotype [RCV002369757]|Charcot-Marie-Tooth disease type 2 [RCV000653870]likely pathogenic1156135900156135900Human1name
8610933CV57233single nucleotide variantNM_170707.4(LMNA):c.513+1G>CCharcot-Marie-Tooth disease type 2 [RCV002513582]|Primary dilated cardiomyopathy [RCV000041353]likely pathogenic1156130774156130774Human2name
14692638CV619051single nucleotide variantNM_170707.4(LMNA):c.937-8C>GCardiomyopathy [RCV000774196]|Charcot-Marie-Tooth disease type 2 [RCV001456120]|Primary dilated cardiomyopathy [RCV003231611]|not provided [RCV001796209]|not specified [RCV001796210]benign|likely benign|uncertain significance1156135893156135893Human4name
14690779CV621704single nucleotide variantNM_170707.4(LMNA):c.639+1G>ACardiomyopathy [RCV000781511]|Charcot-Marie-Tooth disease type 2 [RCV000797832]|not provided [RCV004702414]likely pathogenic1156134529156134529Human3name
14699239CV624746single nucleotide variantNM_170707.4(LMNA):c.639+9T>CCharcot-Marie-Tooth disease type 2 [RCV001501103]|not provided [RCV000788525]likely benign|uncertain significance1156134537156134537Human1name
14740383CV650582single nucleotide variantNM_170707.4(LMNA):c.640-2A>GCharcot-Marie-Tooth disease type 2 [RCV000821778]likely pathogenic1156134803156134803Human1name
14703842CV650588single nucleotide variantNM_170707.4(LMNA):c.357-2A>GCharcot-Marie-Tooth disease type 2 [RCV000807553]pathogenic1156130615156130615Human1name
14741157CV650632single nucleotide variantNM_170707.4(LMNA):c.356+5G>ACardiovascular phenotype [RCV004029093]|Charcot-Marie-Tooth disease type 2 [RCV000822120]|Dilated cardiomyopathy 1A [RCV004776298]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005049712]likely pathogenic|uncertain significance1156115279156115279Human16name
14730539CV650636single nucleotide variantNM_170707.4(LMNA):c.811-1G>ACardiovascular phenotype [RCV004028046]|Charcot-Marie-Tooth disease type 2 [RCV000800997]likely pathogenic1156135186156135186Human1name
15128176CV695005single nucleotide variantNM_170707.4(LMNA):c.937-6C>TCardiomyopathy [RCV003532301]|Charcot-Marie-Tooth disease type 2 [RCV001412121]|LMNA-related disorder [RCV004530835]likely benign1156135895156135895Human3name , alternate_id
15188188CV777019single nucleotide variantNM_170707.4(LMNA):c.937-5T>CCardiomyopathy [RCV001180881]|Cardiovascular phenotype [RCV003169470]|Charcot-Marie-Tooth disease type 2 [RCV000953808]|Dilated cardiomyopathy 1A [RCV001198844]likely benign|uncertain significance1156135896156135896Human6name
8622766CV77790single nucleotide variantNM_170707.4(LMNA):c.357-1G>TCharcot-Marie-Tooth disease type 2 [RCV001387325]|not provided [RCV000057393]pathogenic|not provided1156130616156130616Human1name
8622776CV77800single nucleotide variantNM_170707.4(LMNA):c.514-1G>ADilated cardiomyopathy 1A [RCV004786334]|not provided [RCV000057413]pathogenic|not provided1156134402156134402Human2name
8622812CV77836single nucleotide variantNM_170707.4(LMNA):c.810+1G>ACharcot-Marie-Tooth disease type 2 [RCV000477527]|not provided [RCV000057465]pathogenic|likely pathogenic|not provided1156134976156134976Human1name
8622829CV77853single nucleotide variantNM_170707.4(LMNA):c.936+1G>Tnot provided [RCV000057485]not provided1156135313156135313Humanname
8622832CV77856single nucleotide variantNM_170707.4(LMNA):c.937-7C>GCardiomyopathy [RCV000772012]|Charcot-Marie-Tooth disease [RCV001172638]|Charcot-Marie-Tooth disease type 2 [RCV000530832]|Dilated cardiomyopathy 1A [RCV004786335]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005042176]|Primary dilated cardiomyopathy [RCV003996513]|not providedlikely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided1156135894156135894Human8name
26885530CV850728single nucleotide variantNM_170707.4(LMNA):c.639+1G>TCardiovascular phenotype [RCV002355077]|Charcot-Marie-Tooth disease type 2 [RCV001065501]likely pathogenic1156134529156134529Human1name
26891460CV850734single nucleotide variantNM_170707.4(LMNA):c.937-9C>ACharcot-Marie-Tooth disease type 2 [RCV001068265]|Primary dilated cardiomyopathy [RCV004000174]likely benign|uncertain significance1156135892156135892Human2name
34897685CV915099duplicationNM_170707.4(LMNA):c.514-7dupCardiomyopathy [RCV001179363]|Charcot-Marie-Tooth disease type 2 [RCV001422955]likely benign1156134394156134395Human3name
34894608CV915100deletionNM_170707.4(LMNA):c.513+8delCardiomyopathy [RCV001177453]likely benign1156130780156130780Human2name
34895402CV915104single nucleotide variantNM_170707.4(LMNA):c.810+5T>CCardiomyopathy [RCV001178054]likely benign1156134980156134980Human2name
34897428CV915113single nucleotide variantNM_170707.4(LMNA):c.640-8C>GCardiomyopathy [RCV001179156]|Cardiovascular phenotype [RCV004033031]|Charcot-Marie-Tooth disease type 2 [RCV005093811]likely benign1156134797156134797Human3name
34896777CV915224single nucleotide variantNM_170707.4(LMNA):c.937-8C>TCardiomyopathy [RCV001185904]|Charcot-Marie-Tooth disease type 2 [RCV001401080]likely benign1156135893156135893Human3name
38480747CV959524single nucleotide variantNM_170707.4(LMNA):c.513+6G>ACharcot-Marie-Tooth disease type 2 [RCV001234834]uncertain significance1156130779156130779Human1name
38598012CV964644single nucleotide variantNM_170707.4(LMNA):c.937-3C>AHutchinson-Gilford syndrome [RCV001253332]uncertain significance1156135898156135898Human1name
126744544CV1019195single nucleotide variantNM_170707.4(LMNA):c.810+17G>ACharcot-Marie-Tooth disease type 2 [RCV003745314]|Dilated cardiomyopathy 1A [RCV001337052]likely benign|uncertain significance1156134992156134992Human3name
127266514CV1058442single nucleotide variantNM_170707.4(LMNA):c.1608+2T>GCardiovascular phenotype [RCV002395876]|Charcot-Marie-Tooth disease type 2 [RCV001388734]pathogenic|likely pathogenic1156137234156137234Human1name
127269632CV1088036single nucleotide variantNM_170707.4(LMNA):c.356+10C>ACharcot-Marie-Tooth disease type 2 [RCV001441125]likely benign1156115284156115284Human1name
127255983CV1088038single nucleotide variantNM_170707.4(LMNA):c.639+10G>CCharcot-Marie-Tooth disease type 2 [RCV001426721]likely benign1156134538156134538Human1name
127258489CV1088040single nucleotide variantNM_170707.4(LMNA):c.1158-6C>TCharcot-Marie-Tooth disease type 2 [RCV001427336]|Primary dilated cardiomyopathy [RCV004006965]likely benign1156136208156136208Human2name
127261032CV1088044single nucleotide variantNM_170707.4(LMNA):c.1609-6C>TCharcot-Marie-Tooth disease type 2 [RCV001428005]likely benign1156137648156137648Human1name
127302611CV1109554single nucleotide variantNM_170707.4(LMNA):c.1158-4C>ACharcot-Marie-Tooth disease type 2 [RCV001461686]likely benign1156136210156136210Human1name
127326653CV1160082single nucleotide variantNM_170707.4(LMNA):c.1158-5C>GCardiomyopathy [RCV001526137]|Charcot-Marie-Tooth disease type 2 [RCV003745337]likely benign|uncertain significance1156136209156136209Human3name
150428346CV1186059duplicationNM_170707.4(LMNA):c.1380+5dupPrimary dilated cardiomyopathy [RCV004008933]|not provided [RCV001562144]likely benign|uncertain significance1156136439156136440Human1name
150428803CV1186060microsatelliteNM_170707.4(LMNA):c.*484AG[9]not provided [RCV001562748]likely benign1156139588156139589Humanname
150478234CV1250853single nucleotide variantNM_170707.4(LMNA):c.936+66C>Tnot provided [RCV001672343]benign1156135378156135378Humanname
150452867CV1275346single nucleotide variantNM_170707.4(LMNA):c.1699-2A>GFamilial partial lipodystrophy, Dunnigan type [RCV001706860]likely pathogenic1156138486156138486Human1name
151348743CV1322693single nucleotide variantNM_170707.4(LMNA):c.357-13C>ACardiomyopathy [RCV001804489]|Charcot-Marie-Tooth disease type 2 [RCV002074188]likely benign|uncertain significance1156130604156130604Human3name
151348003CV1325230single nucleotide variantNM_170707.4(LMNA):c.1698+1G>ACharcot-Marie-Tooth disease type 2 [RCV001885299]|Primary dilated cardiomyopathy [RCV004009160]|not provided [RCV001813872]likely pathogenic|uncertain significance1156137744156137744Human2name
151819212CV1385827single nucleotide variantNM_170707.4(LMNA):c.811-18C>GCharcot-Marie-Tooth disease type 2 [RCV002013204]|not specified [RCV003331268]likely benign1156135169156135169Human1name
151841685CV1438255single nucleotide variantNM_170707.4(LMNA):c.1488+3G>ACharcot-Marie-Tooth disease type 2 [RCV001921607]uncertain significance1156137031156137031Human1name
151837578CV1469883single nucleotide variantNM_170707.4(LMNA):c.1609-9C>ACharcot-Marie-Tooth disease type 2 [RCV001880965]likely benign|uncertain significance1156137645156137645Human1name
151727872CV1517442single nucleotide variantNM_170707.4(LMNA):c.1608+2T>ADilated cardiomyopathy 1A [RCV002052057]likely pathogenic1156137234156137234Human2name
152057509CV1523197single nucleotide variantNM_170707.4(LMNA):c.513+11C>ACharcot-Marie-Tooth disease type 2 [RCV002167620]likely benign1156130784156130784Human1name
152161229CV1534688single nucleotide variantNM_170707.4(LMNA):c.1380+8C>TCharcot-Marie-Tooth disease type 2 [RCV002140955]|LMNA-related disorder [RCV004734468]likely benign1156136444156136444Human1name , alternate_id
152053662CV1557666single nucleotide variantNM_170707.4(LMNA):c.936+19C>TCharcot-Marie-Tooth disease type 2 [RCV002141542]|not provided [RCV002225965]likely benign1156135331156135331Human1name
152061051CV1558313deletionNM_170707.4(LMNA):c.640-15delCharcot-Marie-Tooth disease type 2 [RCV002128347]likely benign1156134789156134789Human1name
152092609CV1571250single nucleotide variantNM_170707.4(LMNA):c.936+15C>TCharcot-Marie-Tooth disease type 2 [RCV002150785]likely benign1156135327156135327Human1name
152124203CV1587385single nucleotide variantNM_170707.4(LMNA):c.1381-4G>TCharcot-Marie-Tooth disease type 2 [RCV002136107]|Primary dilated cardiomyopathy [RCV004005478]likely benign1156136917156136917Human2name
155266192CV1684188single nucleotide variantNM_170707.4(LMNA):c.1381-2A>CEmery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV002281663]pathogenic1156136919156136919Human1name
10408192CV172114single nucleotide variantNM_170707.4(LMNA):c.1968+1G>CHutchinson-Gilford syndrome [RCV000192016]pathogenic|not provided1156138758156138758Human1name
10408193CV172115single nucleotide variantNM_170707.4(LMNA):c.1968+2T>AHutchinson-Gilford syndrome [RCV000192017]pathogenic|not provided1156138759156138759Human1name
10408194CV172116single nucleotide variantNM_170707.4(LMNA):c.1968+2T>CHutchinson-Gilford syndrome [RCV000192018]pathogenic|not provided1156138759156138759Human1name
10407829CV172117single nucleotide variantNM_170707.4(LMNA):c.1968+5G>AHutchinson-Gilford progeria syndrome, atypical [RCV000190823]|Hutchinson-Gilford syndrome [RCV000192020]pathogenic|likely pathogenic|not provided1156138762156138762Human1name
10407828CV172118single nucleotide variantNM_170707.4(LMNA):c.1968+5G>CHutchinson-Gilford syndrome [RCV000192019]pathogenic|not provided1156138762156138762Human1name
9690639CV172344single nucleotide variantNM_170707.4(LMNA):c.640-11A>CCardiomyopathy [RCV001186918]|Charcot-Marie-Tooth disease type 2 [RCV002056124]|Primary dilated cardiomyopathy [RCV003998309]|not specified [RCV000156325]likely benign|uncertain significance1156134794156134794Human4name
9690913CV172349single nucleotide variantNM_170707.4(LMNA):c.1609-1G>ACharcot-Marie-Tooth disease type 2 [RCV001850165]|Primary dilated cardiomyopathy [RCV000156608]|not provided [RCV000182373]pathogenic|likely pathogenic1156137653156137653Human2name
9691772CV172486single nucleotide variantNM_170707.4(LMNA):c.1158-3C>TCharcot-Marie-Tooth disease type 2 [RCV005055621]|Primary dilated cardiomyopathy [RCV003998207]|not specified [RCV000150951]pathogenic|likely benign|uncertain significance1156136211156136211Human2name
9691773CV172490single nucleotide variantNM_170707.4(LMNA):c.1699-8C>GCardiomyopathy [RCV000769731]|Cardiovascular phenotype [RCV004639144]|Charcot-Marie-Tooth disease [RCV001173401]|Charcot-Marie-Tooth disease type 2 [RCV000876929]|not provided [RCV001775636]|not specified [RCV000150956]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156138480156138480Human4name
9832408CV178432single nucleotide variantNM_170707.4(LMNA):c.1381-5G>ACardiomyopathy [RCV001185511]|Cardiovascular phenotype [RCV002381508]|Charcot-Marie-Tooth disease type 2 [RCV000815746]|Dilated cardiomyopathy 1A [RCV001775087]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002478468]|Primary familial hypertrophic cardiomyopathy [RCV000157297]|nuncertain significance1156136916156136916Human20name
155684668CV1824965single nucleotide variantNM_170707.4(LMNA):c.937-15C>TCardiomyopathy [RCV003533212]|Cardiovascular phenotype [RCV002371737]|Charcot-Marie-Tooth disease type 2 [RCV003094796]|Primary dilated cardiomyopathy [RCV004007284]likely benign1156135886156135886Human4name
156408765CV1870294single nucleotide variantNM_170707.4(LMNA):c.810+19T>CCharcot-Marie-Tooth disease type 2 [RCV003071400]likely benign1156134994156134994Human1name
156412434CV1890584single nucleotide variantNM_170707.4(LMNA):c.937-20A>GCharcot-Marie-Tooth disease type 2 [RCV003072890]likely benign1156135881156135881Human1name
156333570CV1905778single nucleotide variantNM_170707.4(LMNA):c.936+16A>GCharcot-Marie-Tooth disease type 2 [RCV003089937]likely benign1156135328156135328Human1name
156406248CV1921512single nucleotide variantNM_170707.4(LMNA):c.356+15G>ACharcot-Marie-Tooth disease type 2 [RCV002606534]likely benign1156115289156115289Human1name
156270813CV1957177single nucleotide variantNM_170707.4(LMNA):c.513+11C>TCharcot-Marie-Tooth disease type 2 [RCV002577153]likely benign1156130784156130784Human1name
10055555CV196458single nucleotide variantNM_170707.4(LMNA):c.357-19T>CCharcot-Marie-Tooth disease type 2 [RCV002054166]|not specified [RCV000182346]benign|likely benign1156130598156130598Human1name
10055556CV196471single nucleotide variantNM_170707.4(LMNA):c.810+12C>TCharcot-Marie-Tooth disease [RCV001172629]|Charcot-Marie-Tooth disease type 2 [RCV002054167]|not specified [RCV000182347]benign|likely benign1156134987156134987Human2name
10055557CV196477single nucleotide variantNM_170707.4(LMNA):c.1157+6C>GCardiomyopathy [RCV001182769]|Cardiovascular phenotype [RCV005404349]|Charcot-Marie-Tooth disease type 2 [RCV000821919]|Primary dilated cardiomyopathy [RCV003996713]|not specified [RCV000182348]benign|likely benign|uncertain significance1156136127156136127Human4name
156315739CV2028028single nucleotide variantNM_170707.4(LMNA):c.639+11T>CCharcot-Marie-Tooth disease type 2 [RCV002716788]likely benign1156134539156134539Human1name
156211157CV2036900single nucleotide variantNM_170707.4(LMNA):c.1489-8C>TCardiomyopathy [RCV003533299]|Charcot-Marie-Tooth disease type 2 [RCV002790246]likely benign1156137105156137105Human3name
156215107CV2039024single nucleotide variantNM_170707.4(LMNA):c.1969-8T>CCharcot-Marie-Tooth disease type 2 [RCV002766763]likely benign1156139072156139072Human1name
155902121CV2043664single nucleotide variantNM_170707.4(LMNA):c.640-11A>TCharcot-Marie-Tooth disease type 2 [RCV002771041]likely benign1156134794156134794Human1name
156136423CV2044389deletionNM_170707.4(LMNA):c.639+13delCharcot-Marie-Tooth disease type 2 [RCV002786364]likely benign1156134541156134541Human1name
156333026CV2061483single nucleotide variantNM_170707.4(LMNA):c.936+17C>TCharcot-Marie-Tooth disease type 2 [RCV002810790]likely benign1156135329156135329Human1name
156060795CV2069226single nucleotide variantNM_170707.4(LMNA):c.1609-2A>GCharcot-Marie-Tooth disease type 2 [RCV002846766]likely pathogenic1156137652156137652Human1name
155977557CV2073171single nucleotide variantNM_170707.4(LMNA):c.513+45T>CCharcot-Marie-Tooth disease type 2 [RCV002842362]likely benign1156130818156130818Human1name
11093743CV228278single nucleotide variantNM_170707.4(LMNA):c.1488+8G>ACardiovascular phenotype [RCV002390573]|Charcot-Marie-Tooth disease [RCV001173413]|Charcot-Marie-Tooth disease type 2 [RCV001088656]|not provided [RCV000725758]|not specified [RCV000220172]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156137036156137036Human2name
11090269CV228280single nucleotide variantNM_170707.4(LMNA):c.1381-6C>TCardiomyopathy [RCV001180052]|Charcot-Marie-Tooth disease type 2 [RCV001087904]|Primary dilated cardiomyopathy [RCV003997704]|not provided [RCV000416195]|not specified [RCV000215844]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156136915156136915Human4name
11345550CV237758single nucleotide variantNM_170707.4(LMNA):c.513+45T>GCharcot-Marie-Tooth disease type 2 [RCV003581587]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV000225043]pathogenic|uncertain significance1156130818156130818Human2name
156436072CV2403685single nucleotide variantNM_170707.4(LMNA):c.356+12C>TCardiomyopathy [RCV003128184]|Charcot-Marie-Tooth disease type 2 [RCV005099272]likely benign|uncertain significance1156115286156115286Human3name
243058644CV2413108single nucleotide variantNM_170707.4(LMNA):c.1157+3G>ACardiovascular phenotype [RCV004636709]|Charcot-Marie-Tooth disease type 2 [RCV003745552]|not provided [RCV003134078]uncertain significance1156136124156136124Human1name
329355394CV2430046single nucleotide variantNM_170707.4(LMNA):c.1381-1G>ACardiovascular phenotype [RCV003177759]likely pathogenic1156136920156136920Humanname
11523671CV244228single nucleotide variantNM_170707.4(LMNA):c.1157+1G>TCharcot-Marie-Tooth disease type 2 [RCV001857811]|not provided [RCV000236305]pathogenic|likely pathogenic1156136122156136122Human1name
11523984CV244233single nucleotide variantNM_170707.4(LMNA):c.1489-2A>GCardiovascular phenotype [RCV002392730]|Charcot-Marie-Tooth disease type 2 [RCV002518441]|not provided [RCV000236890]pathogenic|likely pathogenic1156137111156137111Human1name
11523433CV244236single nucleotide variantNM_170707.4(LMNA):c.1609-8C>GCharcot-Marie-Tooth disease type 2 [RCV002518429]|not provided [RCV000235897]likely benign|uncertain significance1156137646156137646Human1name
11549562CV249418single nucleotide variantNM_170707.4(LMNA):c.936+47C>Tnot specified [RCV000250579]likely benign1156135359156135359Humanname
11642947CV269951single nucleotide variantNM_170707.4(LMNA):c.1609-8C>Tnot provided [RCV000385066]uncertain significance1156137646156137646Humanname
401857135CV2750436single nucleotide variantNM_170707.4(LMNA):c.1157+1G>CCardiovascular phenotype [RCV004992599]|not provided [RCV003334109]pathogenic|uncertain significance1156136122156136122Humanname
11577521CV276610single nucleotide variantNM_170707.4(LMNA):c.936+12C>TCardiovascular phenotype [RCV003165785]|Charcot-Marie-Tooth disease [RCV001172628]|Charcot-Marie-Tooth disease type 2 [RCV000342630]|Congenital muscular dystrophy due to LMNA mutation [RCV000408245]|Dilated Cardiomyopathy, Dominant [RCV000262176]|Emery-Dreifuss likely benign|conflicting interpretations of pathogenicity|uncertain significance1156135324156135324Human12name
11644331CV277453single nucleotide variantNM_170707.4(LMNA):c.514-11C>TCardiomyopathy [RCV005402898]|Cardiovascular phenotype [RCV004639205]|Charcot-Marie-Tooth disease type 2 [RCV002061154]|Charcot-Marie-Tooth disease type 2B1 [RCV000319234]|Congenital muscular dystrophy due to LMNA mutation [RCV000338954]|Dilated cardiomyopathy 1likely benign|uncertain significance1156134392156134392Human17name
405173925CV2853541deletionNM_170707.4(LMNA):c.1968+1delnot provided [RCV003542577]uncertain significance1156138757156138757Humanname
405071124CV2885329single nucleotide variantNM_170707.4(LMNA):c.357-18C>GCharcot-Marie-Tooth disease type 2 [RCV003581128]likely benign1156130599156130599Human1name
405075631CV2898334single nucleotide variantNM_170707.4(LMNA):c.1608+4A>GCharcot-Marie-Tooth disease type 2 [RCV003581429]uncertain significance1156137236156137236Human1name
405088459CV2900196single nucleotide variantNM_170707.4(LMNA):c.639+18C>TCharcot-Marie-Tooth disease type 2 [RCV003582679]likely benign1156134546156134546Human1name
405063090CV2934268single nucleotide variantNM_170707.4(LMNA):c.357-15C>TCardiomyopathy [RCV003532552]likely benign1156130602156130602Human2name
405063147CV2934274single nucleotide variantNM_170707.4(LMNA):c.1157+5G>TCardiomyopathy [RCV003532558]|Primary dilated cardiomyopathy [RCV004011491]uncertain significance1156136126156136126Human3name
405246395CV2971184single nucleotide variantNM_170707.4(LMNA):c.1381-5G>TCharcot-Marie-Tooth disease type 2 [RCV003745962]likely benign1156136916156136916Human1name
405083119CV2972671single nucleotide variantNM_170707.4(LMNA):c.356+17G>TCharcot-Marie-Tooth disease type 2 [RCV003744063]likely benign1156115291156115291Human1name
405085173CV2983490single nucleotide variantNM_170707.4(LMNA):c.937-14C>TCharcot-Marie-Tooth disease type 2 [RCV003744291]likely benign1156135887156135887Human1name
405075589CV3007465single nucleotide variantNM_170707.4(LMNA):c.513+19G>TCharcot-Marie-Tooth disease type 2 [RCV003743127]likely benign1156130792156130792Human1name
405077057CV3023083single nucleotide variantNM_170707.4(LMNA):c.640-16C>TCharcot-Marie-Tooth disease type 2 [RCV003743223]likely benign1156134789156134789Human1name
405079697CV3043902single nucleotide variantNM_170707.4(LMNA):c.936+10C>TCharcot-Marie-Tooth disease type 2 [RCV003743430]likely benign1156135322156135322Human1name
405046427CV3154562single nucleotide variantNM_170707.4(LMNA):c.640-20C>TCharcot-Marie-Tooth disease type 2 [RCV003849238]likely benign1156134785156134785Human1name
405248636CV3169678single nucleotide variantNM_170707.4(LMNA):c.1157+7T>CCharcot-Marie-Tooth disease type 2 [RCV003869491]likely benign1156136128156136128Human1name
405264251CV3189965single nucleotide variantNM_170707.4(LMNA):c.513+36C>TLMNA-related disorder [RCV004534463]likely benign1156130809156130809Humanname , trait , alternate_id
405280624CV3195646single nucleotide variantNM_170707.4(LMNA):c.936+49G>CLMNA-related disorder [RCV004536990]likely benign1156135361156135361Humanname , trait , alternate_id
405723406CV3230313single nucleotide variantNM_170707.4(LMNA):c.1158-8C>TPrimary dilated cardiomyopathy [RCV004013065]likely benign1156136206156136206Human1name
405712265CV3231821single nucleotide variantNM_170707.4(LMNA):c.1489-5T>CPrimary dilated cardiomyopathy [RCV004011851]uncertain significance1156137108156137108Human1name
405728811CV3391192single nucleotide variantNM_170707.4(LMNA):c.1489-1G>ACardiovascular phenotype [RCV004524853]likely pathogenic1156137112156137112Humanname
405728843CV3391197single nucleotide variantNM_170707.4(LMNA):c.937-10C>TCardiovascular phenotype [RCV004524858]likely benign1156135891156135891Humanname
405852361CV3395977single nucleotide variantNM_170707.4(LMNA):c.1157+2T>APrimary dilated cardiomyopathy [RCV004556980]pathogenic1156136123156136123Human1name
407573696CV3498063single nucleotide variantNM_170707.4(LMNA):c.1608+1G>Tnot provided [RCV004702049]pathogenic1156137233156137233Humanname
408386377CV3522490single nucleotide variantNM_170707.4(LMNA):c.1608+4A>Tnot provided [RCV004767850]uncertain significance1156137236156137236Humanname
596941233CV3546145single nucleotide variantNM_170707.4(LMNA):c.1158-7T>CCharcot-Marie-Tooth disease type 2 [RCV005105200]|Primary dilated cardiomyopathy [RCV004806774]likely benign1156136207156136207Human2name
12838868CV364452single nucleotide variantNM_170707.4(LMNA):c.1609-9C>TCharcot-Marie-Tooth disease type 2 [RCV002521808]|not specified [RCV000427759]likely benign1156137645156137645Human1name
12842226CV364493single nucleotide variantNM_170707.4(LMNA):c.811-12C>TCardiomyopathy [RCV001187601]|Cardiovascular phenotype [RCV003168655]|Charcot-Marie-Tooth disease type 2 [RCV002062661]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002480303]|Primary dilated cardiomyopathy [RCV004000400]|not specified [RCV000434017]likely benign1156135175156135175Human18name
12844198CV364549single nucleotide variantNM_170707.4(LMNA):c.356+18G>TCharcot-Marie-Tooth disease type 2 [RCV002062441]|not specified [RCV000437571]likely benign1156115292156115292Human1name
597831702CV3759788single nucleotide variantNM_170707.4(LMNA):c.937-13C>TCharcot-Marie-Tooth disease type 2 [RCV005084726]likely benign1156135888156135888Human1name
597854601CV3762511single nucleotide variantNM_170707.4(LMNA):c.1158-1G>APrimary familial dilated cardiomyopathy [RCV005088427]pathogenic1156136213156136213Human1name
597924444CV3777943single nucleotide variantNM_170707.4(LMNA):c.639+12G>TCharcot-Marie-Tooth disease type 2 [RCV005130667]likely benign1156134540156134540Human1name
597913256CV3778678single nucleotide variantNM_170707.4(LMNA):c.811-13T>CCharcot-Marie-Tooth disease type 2 [RCV005129023]likely benign1156135174156135174Human1name
597966713CV3794301single nucleotide variantNM_170707.4(LMNA):c.513+20C>TCharcot-Marie-Tooth disease type 2 [RCV005140477]likely benign1156130793156130793Human1name
597894612CV3810080single nucleotide variantNM_170707.4(LMNA):c.810+15T>CCharcot-Marie-Tooth disease type 2 [RCV005151801]likely benign1156134990156134990Human1name
597916856CV3811071single nucleotide variantNM_170707.4(LMNA):c.1157+8G>TCharcot-Marie-Tooth disease type 2 [RCV005155106]likely benign1156136129156136129Human1name
597840141CV3825264single nucleotide variantNM_170707.4(LMNA):c.1380+9C>TCharcot-Marie-Tooth disease type 2 [RCV005171947]likely benign1156136445156136445Human1name
597920054CV3842592single nucleotide variantNM_170707.4(LMNA):c.357-18C>TCharcot-Marie-Tooth disease type 2 [RCV005184077]likely benign1156130599156130599Human1name
597912646CV3850541single nucleotide variantNM_170707.4(LMNA):c.1969-1G>ACharcot-Marie-Tooth disease type 2 [RCV005203690]uncertain significance1156139079156139079Human1name
597908893CV3853769single nucleotide variantNM_170707.4(LMNA):c.1380+5G>CCharcot-Marie-Tooth disease type 2 [RCV005203252]uncertain significance1156136441156136441Human1name
597881366CV3857409single nucleotide variantNM_170707.4(LMNA):c.513+18G>ACharcot-Marie-Tooth disease type 2 [RCV005199025]likely benign1156130791156130791Human1name
12896591CV389323single nucleotide variantNM_170707.4(LMNA):c.1969-1G>TCardiomyopathy [RCV001188692]|Charcot-Marie-Tooth disease type 2 [RCV001303566]|Primary dilated cardiomyopathy [RCV004000603]|not provided [RCV003441856]|not specified [RCV000455558]uncertain significance1156139079156139079Human4name
616937359CV4010998single nucleotide variantNM_170707.4(LMNA):c.937-46A>Tnot specified [RCV005404842]likely benign1156135855156135855Humanname
13213592CV427645single nucleotide variantNM_170707.4(LMNA):c.513+12C>ACharcot-Marie-Tooth disease type 2 [RCV002060129]|not specified [RCV000500206]likely benign|uncertain significance1156130785156130785Human1name
13504434CV442640single nucleotide variantNM_170707.4(LMNA):c.1698+1G>CCardiomyopathy [RCV001524187]|Cardiovascular phenotype [RCV004992297]|Charcot-Marie-Tooth disease type 2 [RCV003581682]|LMNA-related disorder [RCV004527626]|Primary dilated cardiomyopathy [RCV004806384]|not provided [RCV000519351]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance1156137744156137744Human4name , alternate_id
8569612CV45137single nucleotide variantNM_170707.4(LMNA):c.1381-2A>GCardiovascular phenotype [RCV005403727]|Congenital muscular dystrophy due to LMNA mutation [RCV000030147]|not provided [RCV000057284]pathogenic|likely pathogenic|not provided1156136919156136919Human1name
8569614CV45140single nucleotide variantNM_170707.4(LMNA):c.357-20C>TCharcot-Marie-Tooth disease type 2 [RCV002054501]|not provided [RCV000057394]|not specified [RCV005414257]likely benign|uncertain significance|not provided1156130597156130597Human1name
8569616CV45142single nucleotide variantNM_170707.4(LMNA):c.810+13G>TCardiomyopathy [RCV000030152]|Cardiovascular phenotype [RCV002415432]|Charcot-Marie-Tooth disease [RCV001173419]|Charcot-Marie-Tooth disease type 2 [RCV002054502]|Charcot-Marie-Tooth disease type 2B1 [RCV000263860]|Congenital muscular dystrophy due to LMNA mutatbenign|not provided1156134988156134988Human22name
13521507CV495086single nucleotide variantNM_170707.4(LMNA):c.1488+6T>GCardiomyopathy [RCV001178645]|Charcot-Marie-Tooth disease type 2 [RCV001236548]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002476345]|Primary dilated cardiomyopathy [RCV004002472]|not provided [RCV000599507]|not specified [RCV003155244]uncertain significance1156137034156137034Human6name
13535681CV498122single nucleotide variantNM_170707.4(LMNA):c.639+12G>Anot specified [RCV000607945]likely benign1156134540156134540Humanname
13538904CV498124deletionNM_170707.4(LMNA):c.811-18delnot specified [RCV000612522]likely benign1156135167156135167Humanname
13534772CV509123single nucleotide variantNM_170707.4(LMNA):c.1608+5G>ACardiovascular phenotype [RCV000619007]likely pathogenic1156137237156137237Humanname
13625858CV515122single nucleotide variantNM_170707.4(LMNA):c.1609-4C>TCardiomyopathy [RCV003532226]|Charcot-Marie-Tooth disease type 2 [RCV000654022]|Primary dilated cardiomyopathy [RCV004004117]likely benign1156137650156137650Human4name
13625804CV515138single nucleotide variantNM_170707.4(LMNA):c.1609-7C>TCharcot-Marie-Tooth disease type 2 [RCV000654019]likely benign1156137647156137647Human1name
13625781CV515284single nucleotide variantNM_170707.4(LMNA):c.1380+2T>GCharcot-Marie-Tooth disease type 2 [RCV000653953]pathogenic|likely pathogenic1156136438156136438Human1name
8610947CV57249single nucleotide variantNM_170707.4(LMNA):c.810+13G>ACharcot-Marie-Tooth disease type 2 [RCV002054811]|not specified [RCV000041370]likely benign1156134988156134988Human1name
8610948CV57250single nucleotide variantNM_170707.4(LMNA):c.811-13T>ACardiomyopathy [RCV000771102]|Cardiovascular phenotype [RCV002415485]|Charcot-Marie-Tooth disease [RCV001173418]|Charcot-Marie-Tooth disease type 2 [RCV002054812]|Charcot-Marie-Tooth disease type 2B1 [RCV000294723]|Congenital muscular dystrophy due to LMNA mutatbenign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided1156135174156135174Human18name
13835705CV586967single nucleotide variantNM_170707.4(LMNA):c.640-52C>TCharcot-Marie-Tooth disease type 2 [RCV001511690]|LMNA-related disorder [RCV004540059]|not provided [RCV000731588]|not specified [RCV001700299]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156134753156134753Human1name , alternate_id
14688734CV615184single nucleotide variantNM_170707.4(LMNA):c.1381-6C>ACardiomyopathy [RCV000769729]|Charcot-Marie-Tooth disease type 2 [RCV001309848]uncertain significance1156136915156136915Human3name
14728330CV657113single nucleotide variantNM_170707.4(LMNA):c.639+56G>Tnot provided [RCV000834725]benign1156134584156134584Humanname
14728333CV657118single nucleotide variantNM_170707.4(LMNA):c.639+73C>Tnot provided [RCV000834726]benign1156134601156134601Humanname
15111419CV695006single nucleotide variantNM_170707.4(LMNA):c.1488+7G>ACardiovascular phenotype [RCV003169178]|Charcot-Marie-Tooth disease type 2 [RCV000872310]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002507521]likely benign1156137035156137035Human16name
15141133CV758864single nucleotide variantNM_170707.4(LMNA):c.1969-4T>CCardiomyopathy [RCV001179743]|Charcot-Marie-Tooth disease [RCV001173404]|Charcot-Marie-Tooth disease type 2 [RCV000921791]|Primary dilated cardiomyopathy [RCV004807222]|not provided [RCV001702860]likely benign|uncertain significance1156139076156139076Human5name
15108822CV774381single nucleotide variantNM_170707.4(LMNA):c.1489-9C>TCardiomyopathy [RCV003532329]|Charcot-Marie-Tooth disease type 2 [RCV001453406]|not provided [RCV000938223]likely benign1156137104156137104Human3name
15097727CV774391single nucleotide variantNM_170707.4(LMNA):c.1381-6C>GCharcot-Marie-Tooth disease type 2 [RCV000936113]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002489250]likely benign1156136915156136915Human3name
8622656CV77678single nucleotide variantNM_170707.4(LMNA):c.1157+1G>ACardiovascular phenotype [RCV000621430]|Charcot-Marie-Tooth disease type 2 [RCV002513736]|not provided [RCV000057242]pathogenic|likely pathogenic|not provided1156136122156136122Human1name
8622659CV77681single nucleotide variantNM_170707.4(LMNA):c.1158-2A>Gnot provided [RCV000057245]likely pathogenic|not provided1156136212156136212Humanname
8622692CV77714single nucleotide variantNM_170707.4(LMNA):c.1380+1G>ACardiovascular phenotype [RCV002381366]|Charcot-Marie-Tooth disease type 2 [RCV000697969]|Dilated cardiomyopathy 1A [RCV001535753]|not provided [RCV000057283]pathogenic|not provided1156136437156136437Human13name
8622693CV77715single nucleotide variantNM_170707.4(LMNA):c.1381-8C>Gnot provided [RCV000057285]not provided1156136913156136913Humanname
8622706CV77728single nucleotide variantNM_170707.4(LMNA):c.1488+1G>ACardiovascular phenotype [RCV003298103]|Charcot-Marie-Tooth disease type 2 [RCV003581574]|not provided [RCV000057305]pathogenic|likely pathogenic|uncertain significance|not provided1156137029156137029Human1name
8622707CV77729single nucleotide variantNM_170707.4(LMNA):c.1488+5G>Anot provided [RCV000057306]not provided1156137033156137033Humanname
8622708CV77730single nucleotide variantNM_170707.4(LMNA):c.1488+5G>CCharcot-Marie-Tooth disease type 2 [RCV003581575]|Familial partial lipodystrophy, Dunnigan type [RCV000015610]|not provided [RCV000057307]pathogenic|uncertain significance|not provided1156137033156137033Human2name
8622727CV77750single nucleotide variantNM_170707.4(LMNA):c.1608+1G>ACardiovascular phenotype [RCV004629146]|Charcot-Marie-Tooth disease type 2 [RCV000693979]|Dilated cardiomyopathy 1A [RCV001196083]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002490641]|Neuromuscular disease [RCV000150954]|not provided [RCV000057335]pathogenic|not provided1156137233156137233Human17name
8622728CV77751single nucleotide variantNM_170707.4(LMNA):c.1608+5G>CCardiovascular phenotype [RCV002390205]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV000015589]|not provided [RCV000057336]pathogenic|not provided1156137237156137237Human2name
8622730CV77753single nucleotide variantNM_170707.4(LMNA):c.1609-3C>GCardiovascular phenotype [RCV002390206]|Charcot-Marie-Tooth disease [RCV001174242]|Charcot-Marie-Tooth disease type 2 [RCV001854174]|Dilated cardiomyopathy 1A [RCV000503283]|LMNA-related disorder [RCV004537257]|Primary dilated cardiomyopathy [RCV000154514]|not ppathogenic|likely pathogenic|not provided1156137651156137651Human5name , alternate_id
8622731CV77754single nucleotide variantNM_170707.4(LMNA):c.1609-5A>Gnot provided [RCV000057339]not provided1156137649156137649Humanname
8622753CV77776single nucleotide variantNM_170707.4(LMNA):c.1968+1G>AHutchinson-Gilford syndrome [RCV000015607]|Restrictive dermopathy 2 [RCV001847645]|not provided [RCV000057377]pathogenic|not provided1156138758156138758Human2name
8622793CV77817single nucleotide variantNM_170707.4(LMNA):c.640-10A>Cnot provided [RCV000057436]not provided1156134795156134795Humanname
8622794CV77818single nucleotide variantNM_170707.4(LMNA):c.640-10A>GCardiovascular phenotype [RCV002362690]|Charcot-Marie-Tooth disease type 2 [RCV001221904]|Dilated cardiomyopathy 1A [RCV001029824]|not provided [RCV000057437]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided1156134795156134795Human4name
8622813CV77837single nucleotide variantNM_170707.4(LMNA):c.810+61C>Tnot provided [RCV000057466]benign|not provided1156135036156135036Humanname
8622814CV77838single nucleotide variantNM_170707.4(LMNA):c.810+63C>Anot provided [RCV000057467]not provided1156135038156135038Humanname
8622816CV77840single nucleotide variantNM_170707.4(LMNA):c.811-10T>Anot provided [RCV000057469]not provided1156135177156135177Humanname
8622830CV77854single nucleotide variantNM_170707.4(LMNA):c.937-11C>GCharcot-Marie-Tooth disease type 2 [RCV001854178]|not provided [RCV000057486]pathogenic|not provided1156135890156135890Human1name
8622831CV77855single nucleotide variantNM_170707.4(LMNA):c.937-46A>Gnot provided [RCV000057487]|not specified [RCV005403746]likely benign|not provided1156135855156135855Humanname
15116337CV787005single nucleotide variantNM_170707.4(LMNA):c.1699-4C>TCardiomyopathy [RCV001184431]|Cardiovascular phenotype [RCV005359710]|Charcot-Marie-Tooth disease type 2 [RCV000978573]|LMNA-related disorder [RCV004543651]|not specified [RCV005405468]likely benign1156138484156138484Human3name , alternate_id
21070486CV789856single nucleotide variantNM_170707.4(LMNA):c.1969-2A>TDilated cardiomyopathy 1A [RCV002249095]likely pathogenic1156139078156139078Human2name
26898622CV850729single nucleotide variantNM_170707.4(LMNA):c.1488+1G>TCharcot-Marie-Tooth disease type 2 [RCV001048954]pathogenic|likely pathogenic1156137029156137029Human1name
26901136CV851103single nucleotide variantNM_170707.4(LMNA):c.1158-1G>TCharcot-Marie-Tooth disease type 2 [RCV001049778]likely pathogenic1156136213156136213Human1name
28880911CV858855single nucleotide variantNM_170707.4(LMNA):c.1968+3G>ACardiomyopathy [RCV001177999]|not provided [RCV001092176]likely benign|uncertain significance1156138760156138760Human2name
28890643CV864995single nucleotide variantNM_170707.4(LMNA):c.356+12C>ACharcot-Marie-Tooth disease type 2B1 [RCV001099884]|Congenital muscular dystrophy due to LMNA mutation [RCV001101875]|Dilated cardiomyopathy 1A [RCV001099885]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001101876]|Emery-Dreifuss muscular dystrophuncertain significance1156115286156115286Human11name
34891054CV915102single nucleotide variantNM_170707.4(LMNA):c.937-11C>ACardiomyopathy [RCV001182360]|Charcot-Marie-Tooth disease type 2 [RCV002559022]likely benign1156135890156135890Human3name
34896520CV915114single nucleotide variantNM_170707.4(LMNA):c.1380+3A>GCardiomyopathy [RCV001185770]|Cardiovascular phenotype [RCV002379715]|Charcot-Marie-Tooth disease type 2 [RCV005057043]uncertain significance1156136439156136439Human3name
34893278CV915118single nucleotide variantNM_170707.4(LMNA):c.1699-8C>TCardiomyopathy [RCV001176405]likely benign1156138480156138480Human2name
34888723CV915170single nucleotide variantNM_170707.4(LMNA):c.1699-7T>CCardiomyopathy [RCV001180930]|Charcot-Marie-Tooth disease type 2 [RCV001469235]|Dilated cardiomyopathy 1A [RCV001262512]|Primary dilated cardiomyopathy [RCV004006700]|not provided [RCV002264213]likely benign|uncertain significance1156138481156138481Human6name
34897190CV915226single nucleotide variantNM_170707.4(LMNA):c.1699-9C>TCardiomyopathy [RCV001186264]|Cardiovascular phenotype [RCV003163447]|Charcot-Marie-Tooth disease type 2 [RCV001399224]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002484016]|Primary dilated cardiomyopathy [RCV004807404]likely benign1156138479156138479Human18name
38481520CV959525single nucleotide variantNM_170707.4(LMNA):c.937-10C>ACharcot-Marie-Tooth disease type 2 [RCV001235144]uncertain significance1156135891156135891Human1name
41406915CV982361single nucleotide variantNM_170707.4(LMNA):c.1968+8G>Tnot provided [RCV001289080]uncertain significance1156138765156138765Humanname
127326282CV1160087single nucleotide variantNM_170707.4(LMNA):c.1698+26G>ACardiomyopathy [RCV001525867]uncertain significance1156137769156137769Human2name
150334638CV1170595single nucleotide variantNM_170707.4(LMNA):c.357-778C>Gnot provided [RCV001540154]benign1156129839156129839Humanname
150414780CV1175762single nucleotide variantNM_170707.4(LMNA):c.1698+25C>Gnot provided [RCV001548285]likely benign1156137768156137768Humanname
150481259CV1222129duplicationNM_170707.4(LMNA):c.1968+20dupnot provided [RCV001616927]benign1156138776156138777Humanname
150436290CV1234039duplicationNM_170707.4(LMNA):c.357-171dupnot provided [RCV001644166]benign1156130443156130444Humanname
151880272CV1421298single nucleotide variantNM_170707.4(LMNA):c.1699-10C>ACharcot-Marie-Tooth disease type 2 [RCV001886372]|Primary dilated cardiomyopathy [RCV004010748]likely benign|uncertain significance1156138478156138478Human2name
151756540CV1426151single nucleotide variantNM_170707.4(LMNA):c.1380+14C>TCharcot-Marie-Tooth disease type 2 [RCV002007383]likely benign1156136450156136450Human1name
152101591CV1540225deletionNM_170707.4(LMNA):c.1489-16delCharcot-Marie-Tooth disease type 2 [RCV002095603]likely benign1156137096156137096Human1name
152109130CV1563820single nucleotide variantNM_170707.4(LMNA):c.1609-12T>CCharcot-Marie-Tooth disease type 2 [RCV002174103]|Primary dilated cardiomyopathy [RCV004808227]likely benign1156137642156137642Human2name
152131369CV1568003single nucleotide variantNM_170707.4(LMNA):c.1608+17C>TCharcot-Marie-Tooth disease type 2 [RCV002218118]likely benign1156137249156137249Human1name
152121157CV1574411single nucleotide variantNM_170707.4(LMNA):c.1489-16C>TCharcot-Marie-Tooth disease type 2 [RCV002175596]likely benign1156137097156137097Human1name
152087047CV1578262single nucleotide variantNM_170707.4(LMNA):c.1381-17C>ACharcot-Marie-Tooth disease type 2 [RCV002171312]likely benign1156136904156136904Human1name
152027313CV1626862single nucleotide variantNM_170707.4(LMNA):c.1158-19T>GCharcot-Marie-Tooth disease type 2 [RCV002185455]likely benign1156136195156136195Human1name
152154848CV1658021single nucleotide variantNM_170707.4(LMNA):c.1699-15T>CCharcot-Marie-Tooth disease type 2 [RCV002179993]likely benign1156138473156138473Human1name
152066287CV1659899single nucleotide variantNM_170707.4(LMNA):c.1380+17G>ACharcot-Marie-Tooth disease type 2 [RCV002147470]likely benign1156136453156136453Human1name
9689215CV172350single nucleotide variantNM_170707.4(LMNA):c.1698+25C>TCardiomyopathy [RCV001189963]|not provided [RCV004710561]|not specified [RCV000154674]likely benign|uncertain significance|not provided1156137768156137768Human2name
9689275CV172488single nucleotide variantNM_170707.4(LMNA):c.1488+14C>TCardiovascular phenotype [RCV003162630]|Charcot-Marie-Tooth disease [RCV001173408]|Charcot-Marie-Tooth disease type 2 [RCV001850119]|Charcot-Marie-Tooth disease type 2B1 [RCV001097148]|Congenital muscular dystrophy due to LMNA mutation [RCV001098891]|Dilated carbenign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156137042156137042Human15name , alternate_id
156377691CV1876557single nucleotide variantNM_170707.4(LMNA):c.1158-16G>ACharcot-Marie-Tooth disease type 2 [RCV003066880]likely benign1156136198156136198Human1name
156412073CV1890310single nucleotide variantNM_170707.4(LMNA):c.1489-17C>ACharcot-Marie-Tooth disease type 2 [RCV003072744]likely benign1156137096156137096Human1name
10046097CV189381single nucleotide variantNM_170707.4(LMNA):c.357-739T>GHutchinson-Gilford syndrome [RCV000986428]|not provided [RCV004713393]|not specified [RCV000172758]benign1156129878156129878Human1name
156403490CV1920082single nucleotide variantNM_170707.4(LMNA):c.1608+16C>TCharcot-Marie-Tooth disease type 2 [RCV002605906]likely benign1156137248156137248Human1name
156311750CV1928512single nucleotide variantNM_170707.4(LMNA):c.1608+14G>ACharcot-Marie-Tooth disease type 2 [RCV002648210]likely benign1156137246156137246Human1name
156288916CV2012985single nucleotide variantNM_170707.4(LMNA):c.1157+12A>GCharcot-Marie-Tooth disease type 2 [RCV002715572]likely benign1156136133156136133Human1name
156115643CV2020724single nucleotide variantNM_170707.4(LMNA):c.1380+13T>CCharcot-Marie-Tooth disease type 2 [RCV002739999]likely benign1156136449156136449Human1name
155948414CV2029103single nucleotide variantNM_170707.4(LMNA):c.1157+16G>TCharcot-Marie-Tooth disease type 2 [RCV002730541]likely benign1156136137156136137Human1name
156127909CV2036418single nucleotide variantNM_170707.4(LMNA):c.1489-17C>TCharcot-Marie-Tooth disease type 2 [RCV002786053]likely benign1156137096156137096Human1name
156224973CV2064254single nucleotide variantNM_170707.4(LMNA):c.1609-19G>ACharcot-Marie-Tooth disease type 2 [RCV002829833]uncertain significance1156137635156137635Human1name
156075735CV2083459single nucleotide variantNM_170707.4(LMNA):c.1699-18C>GCharcot-Marie-Tooth disease type 2 [RCV002847218]likely benign1156138470156138470Human1name
156261800CV2100669single nucleotide variantNM_170707.4(LMNA):c.1158-16G>TCharcot-Marie-Tooth disease type 2 [RCV002877298]likely benign1156136198156136198Human1name
156348182CV2128932deletionNM_170707.4(LMNA):c.1608+15delCharcot-Marie-Tooth disease type 2 [RCV002966094]likely benign1156137245156137245Human1name
156092988CV2151915single nucleotide variantNM_170707.4(LMNA):c.1699-17C>TCharcot-Marie-Tooth disease type 2 [RCV003020754]likely benign1156138471156138471Human1name
329351476CV2476407single nucleotide variantNM_170707.4(LMNA):c.1968+62G>Tnot provided [RCV003222639]likely benign1156138819156138819Humanname
11550985CV249419single nucleotide variantNM_170707.4(LMNA):c.1158-43A>Gnot provided [RCV000830547]|not specified [RCV000252459]benign|likely benign1156136171156136171Humanname
11547170CV249420single nucleotide variantNM_170707.4(LMNA):c.1380+37C>Tnot specified [RCV000247416]likely benign1156136473156136473Humanname
11550600CV249421single nucleotide variantNM_170707.4(LMNA):c.1488+33G>Tnot specified [RCV000251971]likely benign1156137061156137061Humanname
401829081CV2743586single nucleotide variantNM_170707.4(LMNA):c.1968+80G>Tnot provided [RCV003326762]benign|likely benign1156138837156138837Humanname
11583021CV277461single nucleotide variantNM_170707.4(LMNA):c.1698+57G>ACharcot-Marie-Tooth disease type 2B1 [RCV000361986]|Congenital muscular dystrophy due to LMNA mutation [RCV000267234]|Dilated cardiomyopathy 1A [RCV000293451]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001099085]|Emery-Dreifuss muscular dystrophlikely benign|uncertain significance1156137800156137800Human12name
405083154CV2855722single nucleotide variantNM_170707.4(LMNA):c.1969-14G>CCharcot-Marie-Tooth disease type 2 [RCV003582264]likely benign1156139066156139066Human1name
405084825CV2874423single nucleotide variantNM_170707.4(LMNA):c.1158-46G>ACharcot-Marie-Tooth disease type 2 [RCV003582395]likely benign1156136168156136168Human1name
405075243CV2883482single nucleotide variantNM_170707.4(LMNA):c.1969-11T>CCharcot-Marie-Tooth disease type 2 [RCV003581324]likely benign1156139069156139069Human1name
405071872CV2885672single nucleotide variantNM_170707.4(LMNA):c.1609-16T>CCharcot-Marie-Tooth disease type 2 [RCV003581174]likely benign1156137638156137638Human1name
405083606CV2977672single nucleotide variantNM_170707.4(LMNA):c.1157+13G>ACharcot-Marie-Tooth disease type 2 [RCV003744171]likely benign1156136134156136134Human1name
405086819CV2994018single nucleotide variantNM_170707.4(LMNA):c.1488+17T>CCharcot-Marie-Tooth disease type 2 [RCV003744445]likely benign1156137045156137045Human1name
405086112CV2995328single nucleotide variantNM_170707.4(LMNA):c.1380+14C>GCharcot-Marie-Tooth disease type 2 [RCV003744365]likely benign1156136450156136450Human1name
405079747CV3054088single nucleotide variantNM_170707.4(LMNA):c.1157+46C>TCharcot-Marie-Tooth disease type 2 [RCV003743434]likely benign1156136167156136167Human1name
405080449CV3055906single nucleotide variantNM_170707.4(LMNA):c.1157+22G>ACharcot-Marie-Tooth disease type 2 [RCV003743512]likely benign1156136143156136143Human1name
405209458CV3162559single nucleotide variantNM_170707.4(LMNA):c.1157+30G>ACharcot-Marie-Tooth disease type 2 [RCV003861858]likely benign1156136151156136151Human1name
405242456CV3173332single nucleotide variantNM_170707.4(LMNA):c.1968+19G>CCharcot-Marie-Tooth disease type 2 [RCV003867617]likely benign1156138776156138776Human1name
405704993CV3231582single nucleotide variantNM_170707.4(LMNA):c.1381-15C>TPrimary dilated cardiomyopathy [RCV004010125]likely benign1156136906156136906Human1name
12847077CV364503single nucleotide variantNM_170707.4(LMNA):c.1157+18C>TCharcot-Marie-Tooth disease type 2 [RCV002061420]|not provided [RCV004711040]|not specified [RCV000442840]likely benign1156136139156136139Human1name
12842725CV364504single nucleotide variantNM_170707.4(LMNA):c.1488+15G>ACharcot-Marie-Tooth disease type 2 [RCV002521790]|not specified [RCV000434948]likely benign1156137043156137043Human1name
12833039CV364522single nucleotide variantNM_170707.4(LMNA):c.1157+19G>ACharcot-Marie-Tooth disease [RCV001173412]|Charcot-Marie-Tooth disease type 2 [RCV002061584]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002488896]|not provided [RCV001810900]|not specified [RCV000417739]likely benign1156136140156136140Human4name
597844344CV3736135single nucleotide variantNM_170707.4(LMNA):c.1158-17G>TCharcot-Marie-Tooth disease type 2 [RCV005065483]likely benign1156136197156136197Human1name
597964837CV3751023single nucleotide variantNM_170707.4(LMNA):c.1609-19G>CCharcot-Marie-Tooth disease type 2 [RCV005082585]likely benign1156137635156137635Human1name
597949164CV3772288single nucleotide variantNM_170707.4(LMNA):c.1381-14T>GCharcot-Marie-Tooth disease type 2 [RCV005120607]likely benign1156136907156136907Human1name
597926087CV3783254single nucleotide variantNM_170707.4(LMNA):c.1157+40T>GCharcot-Marie-Tooth disease type 2 [RCV005115940]likely benign1156136161156136161Human1name
597855408CV3821745single nucleotide variantNM_170707.4(LMNA):c.1488+12G>CCharcot-Marie-Tooth disease type 2 [RCV005174223]likely benign1156137040156137040Human1name
597861943CV3860462single nucleotide variantNM_170707.4(LMNA):c.1157+45C>GCharcot-Marie-Tooth disease type 2 [RCV005195990]likely benign1156136166156136166Human1name
616936964CV4010892single nucleotide variantNM_170707.4(LMNA):c.357-714A>Gnot specified [RCV005404239]likely benign1156129903156129903Humanname
13481821CV447163single nucleotide variantNM_170707.4(LMNA):c.1608+10C>TCharcot-Marie-Tooth disease type 2 [RCV000529134]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002483494]likely benign|uncertain significance1156137242156137242Human3name
8569611CV45136single nucleotide variantNM_170707.4(LMNA):c.1157+16G>ACharcot-Marie-Tooth disease [RCV001173416]|Charcot-Marie-Tooth disease type 2 [RCV002054500]|Primary dilated cardiomyopathy [RCV000030146]|not provided [RCV000057241]|not specified [RCV000041310]benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided1156136137156136137Human3name
13516951CV491093single nucleotide variantNM_170707.4(LMNA):c.1698+28G>Anot provided [RCV000596153]uncertain significance1156137771156137771Humanname
13536627CV498073single nucleotide variantNM_170707.4(LMNA):c.1381-13A>GCardiomyopathy [RCV001179649]|Cardiovascular phenotype [RCV003343948]|Charcot-Marie-Tooth disease type 2 [RCV002066699]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002476367]|Primary dilated cardiomyopathy [RCV004002608]|not provided [RCV001811111]|not specified [RCV000609274]benign|likely benign1156136908156136908Human18name
13539977CV498076single nucleotide variantNM_170707.4(LMNA):c.1968+12C>Gnot specified [RCV000614046]likely benign1156138769156138769Humanname
13832621CV586866single nucleotide variantNM_170707.4(LMNA):c.1968+37C>TCharcot-Marie-Tooth disease type 2 [RCV002067118]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005046993]|not provided [RCV000731456]likely benign|uncertain significance1156138794156138794Human3name
14745833CV657048single nucleotide variantNM_170707.4(LMNA):c.356+310T>Cnot provided [RCV000843795]benign1156115584156115584Human1name
14722309CV657051single nucleotide variantNM_170707.4(LMNA):c.514-197A>Cnot provided [RCV000832045]benign1156134206156134206Humanname
14728204CV657054single nucleotide variantNM_170707.4(LMNA):c.514-111C>Tnot provided [RCV000834675]benign1156134292156134292Humanname
14711254CV657066single nucleotide variantNM_170707.4(LMNA):c.937-275A>Gnot provided [RCV000827977]benign1156135626156135626Humanname
14714443CV657068single nucleotide variantNM_170707.4(LMNA):c.1380+18G>ACharcot-Marie-Tooth disease type 2 [RCV002062227]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002495199]|not provided [RCV000829041]likely benign1156136454156136454Human3name
14710991CV657104single nucleotide variantNM_170707.4(LMNA):c.357-269T>Cnot provided [RCV000827889]benign1156130348156130348Humanname
14745185CV657105single nucleotide variantNM_170707.4(LMNA):c.936+234C>Tnot provided [RCV000843210]benign1156135546156135546Humanname
14722306CV657111single nucleotide variantNM_170707.4(LMNA):c.513+175T>Cnot provided [RCV000832044]benign1156130948156130948Humanname
14745825CV657115single nucleotide variantNM_170707.4(LMNA):c.513+274C>Gnot provided [RCV000843787]benign1156131047156131047Humanname
15180006CV774395single nucleotide variantNM_170707.4(LMNA):c.1158-10C>TCharcot-Marie-Tooth disease type 2 [RCV000929780]likely benign1156136204156136204Human1name
8622660CV77682single nucleotide variantNM_170707.4(LMNA):c.1158-38G>Anot provided [RCV000057246]not provided1156136176156136176Humanname
8622661CV77683single nucleotide variantNM_170707.4(LMNA):c.1158-44C>TCharcot-Marie-Tooth disease type 2 [RCV000233008]|LMNA-related disorder [RCV004537255]|not provided [RCV000057247]|not specified [RCV000275328]benign|likely benign|not provided1156136170156136170Human1name , alternate_id
8622709CV77731single nucleotide variantNM_170707.4(LMNA):c.1489-41C>Tnot provided [RCV000057308]|not specified [RCV000243967]benign|not provided1156137072156137072Humanname
8622729CV77752single nucleotide variantNM_170707.4(LMNA):c.1609-12T>GHeart-hand syndrome, Slovenian type [RCV000015618]|Primary dilated cardiomyopathy [RCV005250008]|not provided [RCV000057337]pathogenic|likely pathogenic|not provided1156137642156137642Human2name
8622754CV77777single nucleotide variantNM_170707.4(LMNA):c.1968+26A>Gnot provided [RCV000057378]|not specified [RCV000508292]benign|not provided1156138783156138783Humanname
28888694CV862423single nucleotide variantNM_170707.4(LMNA):c.1698+83G>ACharcot-Marie-Tooth disease type 2B1 [RCV001101162]|Congenital muscular dystrophy due to LMNA mutation [RCV001101164]|Dilated cardiomyopathy 1A [RCV001101163]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001101161]|Emery-Dreifuss muscular dystrophuncertain significance1156137826156137826Human11name
34890000CV905557single nucleotide variantNM_170707.4(LMNA):c.1157+15C>TCardiovascular phenotype [RCV004032951]|Charcot-Marie-Tooth disease [RCV001173406]|Charcot-Marie-Tooth disease type 2 [RCV002067847]likely benign1156136136156136136Human2name
34889586CV905558single nucleotide variantNM_170707.4(LMNA):c.1489-16C>GCharcot-Marie-Tooth disease [RCV001172630]|Charcot-Marie-Tooth disease type 2 [RCV002068061]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002497605]|not provided [RCV001528967]|not specified [RCV001700712]benign|likely benign1156137097156137097Human4name
34889999CV905560duplicationNM_170707.4(LMNA):c.1968+18dupCharcot-Marie-Tooth disease [RCV001173403]|Charcot-Marie-Tooth disease type 2 [RCV002068081]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002491487]|not provided [RCV001712866]|not specified [RCV005236652]benign|likely benign1156138772156138773Human4name
34891633CV915106single nucleotide variantNM_170707.4(LMNA):c.1158-12C>GCardiomyopathy [RCV001182607]|Cardiovascular phenotype [RCV003380863]|Charcot-Marie-Tooth disease type 2 [RCV002068323]likely benign1156136202156136202Human3name
34894429CV915108single nucleotide variantNM_170707.4(LMNA):c.1158-14C>TCardiomyopathy [RCV001184602]|Charcot-Marie-Tooth disease type 2 [RCV002559866]likely benign1156136200156136200Human3name
34899392CV915174single nucleotide variantNM_170707.4(LMNA):c.1969-11T>GCardiomyopathy [RCV001188283]uncertain significance1156139069156139069Human2name
150419662CV1196484single nucleotide variantNM_170707.4(LMNA):c.1699-133C>Tnot provided [RCV001577275]likely benign1156138355156138355Humanname
150448703CV1215015single nucleotide variantNM_170707.4(LMNA):c.1609-108G>Anot provided [RCV001611604]benign1156137546156137546Humanname
150506829CV1226441single nucleotide variantNM_170707.4(LMNA):c.1608+143A>Gnot provided [RCV001635809]benign1156137375156137375Humanname
150483855CV1247020single nucleotide variantNM_170707.4(LMNA):c.357-3431G>Anot provided [RCV001673516]benign1156127186156127186Humanname
150436033CV1274117single nucleotide variantNM_170707.4(LMNA):c.357-3717A>Gnot provided [RCV001724387]|not specified [RCV001700802]benign|likely benign1156126900156126900Humanname
150472826CV1281295single nucleotide variantNM_170707.4(LMNA):c.357-4599C>Anot provided [RCV001713431]benign1156126018156126018Humanname
150540994CV1297388single nucleotide variantNM_170707.4(LMNA):c.357-3734G>Anot provided [RCV001767070]uncertain significance1156126883156126883Humanname
8691861CV141828single nucleotide variantNM_170707.4(LMNA):c.357-4426G>Anot specified [RCV000126633]benign1156126191156126191Humanname
152038471CV1669280single nucleotide variantNM_170707.4(LMNA):c.357-3748C>Tnot provided [RCV002224332]|not specified [RCV004700694]conflicting interpretations of pathogenicity|uncertain significance1156126869156126869Humanname
155641327CV1709645single nucleotide variantNM_170707.4(LMNA):c.1968+130C>Tnot provided [RCV002292745]uncertain significance1156138887156138887Humanname
11523756CV244213single nucleotide variantNM_170707.4(LMNA):c.357-4406A>Gnot provided [RCV000236483]uncertain significance1156126211156126211Humanname
401933069CV2806056single nucleotide variantNM_170707.4(LMNA):c.1969-130C>Anot provided [RCV003409142]uncertain significance1156138950156138950Humanname
401948467CV2832580single nucleotide variantNM_170707.4(LMNA):c.357-3669G>AFamilial partial lipodystrophy, Dunnigan type [RCV003448560]uncertain significance1156126948156126948Human1name
405277853CV3196151single nucleotide variantNM_170707.4(LMNA):c.357-3720C>TLMNA-related disorder [RCV004537112]uncertain significance1156126897156126897Humanname , trait , alternate_id
405869475CV3396752single nucleotide variantNM_170707.4(LMNA):c.357-3735G>AEmery-Dreifuss muscular dystrophy 3, autosomal recessive [RCV004566631]uncertain significance1156126882156126882Human1name
408369094CV3508375single nucleotide variantNM_170707.4(LMNA):c.357-3820A>TLMNA-related disorder [RCV004736564]likely benign1156126797156126797Humanname , trait , alternate_id
408368893CV3517353single nucleotide variantNM_170707.4(LMNA):c.357-3719G>ALMNA-related disorder [RCV004736100]likely benign1156126898156126898Humanname , trait , alternate_id
11665231CV353062single nucleotide variantNM_170707.4(LMNA):c.1698+124C>TCharcot-Marie-Tooth disease type 2 [RCV000343251]|Congenital muscular dystrophy due to LMNA mutation [RCV000405500]|Dilated Cardiomyopathy, Dominant [RCV000398598]|Emery-Dreifuss muscular dystrophy [RCV000394847]|Familial partial lipodystrophy [RCV000353940]|Hutuncertain significance1156137867156137867Human9name
598128144CV3883163single nucleotide variantNM_170707.4(LMNA):c.357-4385G>Anot provided [RCV005234696]likely benign1156126232156126232Humanname
616936561CV4010487single nucleotide variantNM_170707.4(LMNA):c.357-3723G>ACardiovascular phenotype [RCV005403833]uncertain significance1156126894156126894Humanname
14728757CV657072single nucleotide variantNM_170707.4(LMNA):c.1608+152A>Gnot provided [RCV000834916]benign1156137384156137384Humanname
14710987CV657087single nucleotide variantNM_170707.4(LMNA):c.357-4760T>Cnot provided [RCV000827888]benign1156125857156125857Humanname
14745824CV657090single nucleotide variantNM_170707.4(LMNA):c.357-4696T>Cnot provided [RCV000843786]benign1156125921156125921Humanname
14722229CV657094single nucleotide variantNM_170707.4(LMNA):c.357-4652C>Tnot provided [RCV000832013]benign1156125965156125965Humanname
14722230CV657095single nucleotide variantNM_170707.4(LMNA):c.357-4560C>Tnot provided [RCV000832014]benign1156126057156126057Humanname
14722298CV657096single nucleotide variantNM_170707.4(LMNA):c.357-3991T>Gnot provided [RCV000832041]|not specified [RCV005405332]benign1156126626156126626Humanname
14728327CV657101single nucleotide variantNM_170707.4(LMNA):c.357-4032G>Anot provided [RCV000834724]|not specified [RCV005405334]benign1156126585156126585Humanname
14722296CV657102single nucleotide variantNM_170707.4(LMNA):c.357-4021G>Anot provided [RCV000832040]|not specified [RCV005405331]benign1156126596156126596Humanname
14722303CV657110single nucleotide variantNM_170707.4(LMNA):c.357-3489G>Anot provided [RCV000832043]benign1156127128156127128Humanname
14722300CV657112single nucleotide variantNM_170707.4(LMNA):c.357-3535T>Cnot provided [RCV000832042]benign1156127082156127082Humanname
14745826CV657114single nucleotide variantNM_170707.4(LMNA):c.1699-260C>Tnot provided [RCV000843788]benign1156138228156138228Humanname
14722310CV657120single nucleotide variantNM_170707.4(LMNA):c.1380+142G>Anot provided [RCV000832046]benign1156136578156136578Humanname
14745187CV657123single nucleotide variantNM_170707.4(LMNA):c.1699-231T>Cnot provided [RCV000843211]benign1156138257156138257Humanname
152980614CV1678807deletionNM_170707.4(LMNA):c.*666_*667delnot provided [RCV002247202]uncertain significance1156139772156139773Humanname
150520684CV1290558insertionNM_170707.4(LMNA):c.*196_*197insAnot provided [RCV001732249]benign1156139302156139303Humanname
405076947CV3016429deletionNM_170707.4(LMNA):c.758_810+70delCharcot-Marie-Tooth disease type 2 [RCV003743089]pathogenic1156134923156135045Human1name
597901828CV3851351deletionNM_170707.4(LMNA):c.640-67_718delCharcot-Marie-Tooth disease type 2 [RCV005202127]likely pathogenic1156134736156134881Human1name
10407826CV172111deletionNM_170707.4(LMNA):c.1700_1968+1delHutchinson-Gilford syndrome [RCV000192013]pathogenic|not provided1156138483156138752Human1name
597720712CV3726807duplicationNM_170707.4(LMNA):c.1699-1_1706dupDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005049888]uncertain significance1156138481156138482Human2name
597883072CV3857666deletionNM_170707.4(LMNA):c.357-396_434delCharcot-Marie-Tooth disease type 2 [RCV005199293]pathogenic1156130221156130694Human1name
13516578CV488416deletionNM_170707.4(LMNA):c.1142_1157+1delCardiovascular phenotype [RCV002456296]|Charcot-Marie-Tooth disease type 2 [RCV001231259]|not provided [RCV000599189]pathogenic|likely pathogenic1156136104156136120Human1name
13818057CV556965deletionNM_170707.4(LMNA):c.810+32_1323delCharcot-Marie-Tooth disease type 2 [RCV000693456]pathogenic1156135004156136376Human1name
14709258CV657092microsatelliteNM_170707.4(LMNA):c.357-4646AAT[3]not provided [RCV000834764]benign1156125971156125973Humanname
38459035CV959523deletionNM_170707.4(LMNA):c.356+3_356+6delCharcot-Marie-Tooth disease type 2 [RCV001229061]|not provided [RCV002265012]likely pathogenic|uncertain significance1156115275156115278Human1name
41408108CV980754deletionNM_170707.4(LMNA):c.1158-9_1173delProximal muscle weakness [RCV001281579]likely pathogenic1156136202156136226Human1name
127276640CV1066294single nucleotide variantNM_170707.4(LMNA):c.21G>C (p.Arg7=)Charcot-Marie-Tooth disease type 2 [RCV001407234]likely benign1156114939156114939Human1name
127317272CV1130450single nucleotide variantNM_170707.4(LMNA):c.12G>C (p.Pro4=)Charcot-Marie-Tooth disease type 2 [RCV001503343]likely benign1156114930156114930Human1name
156161327CV2096891duplicationNM_170707.4(LMNA):c.640-11_640-7dupCharcot-Marie-Tooth disease type 2 [RCV002872671]likely benign1156134791156134792Human1name
405086587CV3000282duplicationNM_170707.4(LMNA):c.513+6_513+20dupCharcot-Marie-Tooth disease type 2 [RCV003744426]likely benign1156130778156130779Human1name
405093702CV3077515single nucleotide variantNM_170707.4(LMNA):c.21G>A (p.Arg7=)Charcot-Marie-Tooth disease type 2 [RCV003745271]likely benign1156114939156114939Human1name
408380599CV3501214single nucleotide variantNM_170707.4(LMNA):c.24C>T (p.Arg8=)not provided [RCV004727303]likely benign1156114942156114942Humanname
12836042CV364449single nucleotide variantNM_170707.4(LMNA):c.12G>A (p.Pro4=)Cardiomyopathy [RCV000768707]|Cardiovascular phenotype [RCV002379298]|Charcot-Marie-Tooth disease [RCV001173407]|Charcot-Marie-Tooth disease type 2 [RCV000527270]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002488882]|Primary dilated cardiomyopathy [RCV003995962]|not specifiedbenign|likely benign1156114930156114930Human19name
597735893CV3719645deletionNM_170707.4(LMNA):c.5del (p.Glu2fs)Charcot-Marie-Tooth disease type 2 [RCV005105305]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005051628]pathogenic1156114923156114923Human3name
15159805CV685572single nucleotide variantNM_170707.4(LMNA):c.15C>T (p.Ser5=)Cardiovascular phenotype [RCV004639396]|Charcot-Marie-Tooth disease type 2 [RCV001441179]|Primary dilated cardiomyopathy [RCV004807217]likely benign1156114933156114933Human2name
34896465CV906398single nucleotide variantNM_170707.4(LMNA):c.24C>A (p.Arg8=)Cardiomyopathy [RCV001178467]|Charcot-Marie-Tooth disease type 2 [RCV002068224]likely benign1156114942156114942Human3name
127273132CV1058424single nucleotide variantNM_170707.4(LMNA):c.1A>T (p.Met1Leu)Charcot-Marie-Tooth disease type 2 [RCV001390690]pathogenic1156114919156114919Human1name
127329509CV1130451single nucleotide variantNM_170707.4(LMNA):c.90G>A (p.Gln30=)Charcot-Marie-Tooth disease type 2 [RCV001487448]likely benign1156115008156115008Human1name
151813909CV1373301single nucleotide variantNM_170707.4(LMNA):c.7A>G (p.Thr3Ala)Charcot-Marie-Tooth disease type 2 [RCV001900220]|not provided [RCV003130563]uncertain significance1156114925156114925Human1name
9691200CV172880deletionNM_170707.2(LMNA):c.(?_1)_(356_?)delPrimary dilated cardiomyopathy [RCV000156910]pathogenic1156114919156115274Human1name
155704449CV1810689single nucleotide variantNM_170707.4(LMNA):c.57T>C (p.Thr19=)Cardiovascular phenotype [RCV002359878]likely benign1156114975156114975Humanname
155669429CV1822075single nucleotide variantNM_170707.4(LMNA):c.66G>A (p.Ser22=)Cardiovascular phenotype [RCV002367147]|Charcot-Marie-Tooth disease type 2 [RCV005096986]likely benign1156114984156114984Human1name
10056824CV196446single nucleotide variantNM_170707.4(LMNA):c.3G>T (p.Met1Ile)Charcot-Marie-Tooth disease type 2 [RCV002515313]|not provided [RCV000182378]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity1156114921156114921Human1name
11347665CV238145single nucleotide variantNM_170707.4(LMNA):c.93G>A (p.Glu31=)Cardiomyopathy [RCV001176602]|Cardiovascular phenotype [RCV005365197]|Charcot-Marie-Tooth disease type 2 [RCV000232909]|Primary dilated cardiomyopathy [RCV004806267]likely benign1156115011156115011Human4name
11523697CV244206single nucleotide variantNM_170707.4(LMNA):c.3G>C (p.Met1Ile)not provided [RCV000236357]|not specified [RCV000678713]pathogenic|likely pathogenic1156114921156114921Humanname
329392321CV2470608single nucleotide variantNM_170707.4(LMNA):c.2T>A (p.Met1Lys)Cardiovascular phenotype [RCV003217711]|not provided [RCV004719317]pathogenic1156114920156114920Humanname
11638176CV269995deletionNM_170707.4(LMNA):c.937-22_937-10delCongenital muscular dystrophy due to LMNA mutation [RCV001255625]|not provided [RCV000298699]likely pathogenic|uncertain significance1156135875156135887Human1name
11639145CV270683single nucleotide variantNM_170707.4(LMNA):c.75C>T (p.Arg25=)Charcot-Marie-Tooth disease type 2 [RCV001452238]|not provided [RCV000316060]likely benign|uncertain significance1156114993156114993Human1name
11641831CV272023single nucleotide variantNM_170707.4(LMNA):c.66G>T (p.Ser22=)not provided [RCV000364039]uncertain significance1156114984156114984Humanname
401862413CV2753889single nucleotide variantNM_170707.4(LMNA):c.4G>A (p.Glu2Lys)Cardiovascular phenotype [RCV003358470]uncertain significance1156114922156114922Humanname
405077856CV2887510single nucleotide variantNM_170707.4(LMNA):c.39G>A (p.Gly13=)Cardiomyopathy [RCV003534211]|Cardiovascular phenotype [RCV005363141]|Charcot-Marie-Tooth disease type 2 [RCV003582651]|Primary dilated cardiomyopathy [RCV004011375]likely benign1156114957156114957Human4name
405093297CV2925632single nucleotide variantNM_170707.4(LMNA):c.87G>T (p.Leu29=)Charcot-Marie-Tooth disease type 2 [RCV003583066]likely benign1156115005156115005Human1name
405063067CV2934265single nucleotide variantNM_170707.4(LMNA):c.72C>G (p.Thr24=)Cardiomyopathy [RCV003532549]likely benign1156114990156114990Human2name
405728821CV3391194single nucleotide variantNM_170707.4(LMNA):c.1A>G (p.Met1Val)Cardiovascular phenotype [RCV004524855]pathogenic1156114919156114919Humanname
407509063CV3496432deletionNM_170707.4(LMNA):c.1609-3_1609-2delnot provided [RCV004698273]likely pathogenic1156137651156137652Humanname
597722699CV3693381single nucleotide variantNM_170707.4(LMNA):c.99G>A (p.Glu33=)Cardiovascular phenotype [RCV004993753]likely benign1156115017156115017Humanname
597893769CV3857128single nucleotide variantNM_170707.4(LMNA):c.36C>T (p.Ser12=)Charcot-Marie-Tooth disease type 2 [RCV005200991]likely benign1156114954156114954Human1name
8569615CV45141single nucleotide variantNM_170707.4(LMNA):c.51C>T (p.Ser17=)Cardiomyopathy [RCV000768708]|Cardiovascular phenotype [RCV000246550]|Charcot-Marie-Tooth disease [RCV001173421]|Charcot-Marie-Tooth disease type 2 [RCV000204379]|Charcot-Marie-Tooth disease type 2B1 [RCV001093839]|Congenital muscular dystrophy due to LMNA mutatbenign|likely benign|not provided1156114969156114969Human23name
13509208CV481568single nucleotide variantNM_170707.4(LMNA):c.3G>A (p.Met1Ile)Charcot-Marie-Tooth disease type 2 [RCV000653926]|Dilated cardiomyopathy 1A [RCV001594399]|See cases [RCV001268969]|not provided [RCV000579197]pathogenic|likely pathogenic1156114921156114921Human3name
13527231CV509108single nucleotide variantNM_170707.4(LMNA):c.42G>A (p.Ala14=)Cardiomyopathy [RCV003532204]|Cardiovascular phenotype [RCV000619598]|Charcot-Marie-Tooth disease type 2 [RCV001499333]likely benign1156114960156114960Human3name
13625796CV515135single nucleotide variantNM_170707.4(LMNA):c.96G>A (p.Lys32=)Cardiomyopathy [RCV001185033]|Cardiovascular phenotype [RCV002369758]|Charcot-Marie-Tooth disease type 2 [RCV000653976]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002493055]|Primary dilated cardiomyopathy [RCV004004116]likely benign1156115014156115014Human18name
13810505CV556669single nucleotide variantNM_170707.4(LMNA):c.4G>T (p.Glu2Ter)Cardiovascular phenotype [RCV002343440]|Charcot-Marie-Tooth disease type 2 [RCV000688289]pathogenic1156114922156114922Human1name
8610945CV57247single nucleotide variantNM_170707.4(LMNA):c.78C>T (p.Ile26=)Cardiomyopathy [RCV001188883]|Cardiovascular phenotype [RCV002415484]|Charcot-Marie-Tooth disease type 2 [RCV001079073]|not provided [RCV000725413]|not specified [RCV000041368]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156114996156114996Human3name
14712178CV626901duplicationNM_170707.4(LMNA):c.11dup (p.Ser5fs)Charcot-Marie-Tooth disease type 2 [RCV000793718]pathogenic1156114925156114926Human1name
15123993CV695007deletionNM_170707.4(LMNA):c.1699-9_1699-8delCardiomyopathy [RCV001179741]|Cardiovascular phenotype [RCV004027848]|Charcot-Marie-Tooth disease type 2 [RCV001409456]likely benign|uncertain significance1156138478156138479Human3name
34890864CV905876single nucleotide variantNM_170707.4(LMNA):c.72C>T (p.Thr24=)Charcot-Marie-Tooth disease type 2 [RCV003744740]|not specified [RCV001174564]likely benign1156114990156114990Human1name
34889890CV906397single nucleotide variantNM_170707.4(LMNA):c.8C>A (p.Thr3Asn)Cardiomyopathy [RCV001181741]|Charcot-Marie-Tooth disease type 2 [RCV003769991]|Dilated cardiomyopathy 1A [RCV004789426]|Primary dilated cardiomyopathy [RCV004006760]uncertain significance1156114926156114926Human6name
38483655CV930059deletionNM_170707.4(LMNA):c.13del (p.Ser5fs)Charcot-Marie-Tooth disease type 2 [RCV001207729]pathogenic1156114931156114931Human1name
38486254CV930060deletionNM_170707.4(LMNA):c.16del (p.Gln6fs)Charcot-Marie-Tooth disease type 2 [RCV001208820]pathogenic1156114932156114932Human1name
126772226CV1022657single nucleotide variantNM_170707.4(LMNA):c.22C>G (p.Arg8Gly)Charcot-Marie-Tooth disease type 2 [RCV001345496]uncertain significance1156114940156114940Human1name
126908348CV1039475single nucleotide variantNM_170707.4(LMNA):c.10C>T (p.Pro4Ser)Charcot-Marie-Tooth disease type 2 [RCV001367763]uncertain significance1156114928156114928Human1name
127290415CV1109549single nucleotide variantNM_170707.4(LMNA):c.141C>T (p.Asp47=)Charcot-Marie-Tooth disease type 2 [RCV001451238]likely benign1156115059156115059Human1name
127301260CV1109550single nucleotide variantNM_170707.4(LMNA):c.189C>A (p.Ile63=)Charcot-Marie-Tooth disease type 2 [RCV001461350]likely benign1156115107156115107Human1name
150544717CV1313526deletionNM_170707.4(LMNA):c.65del (p.Ser22fs)not provided [RCV001783604]pathogenic1156114983156114983Humanname
151791957CV1398589single nucleotide variantNM_170707.4(LMNA):c.11C>A (p.Pro4Gln)Cardiovascular phenotype [RCV004990559]|Charcot-Marie-Tooth disease type 2 [RCV002010787]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005050511]likely pathogenic|uncertain significance1156114929156114929Human16name
151773530CV1402849single nucleotide variantNM_170707.4(LMNA):c.11C>T (p.Pro4Leu)Charcot-Marie-Tooth disease type 2 [RCV001896572]|Primary dilated cardiomyopathy [RCV004010788]uncertain significance1156114929156114929Human2name
151871591CV1429730single nucleotide variantNM_170707.4(LMNA):c.19C>T (p.Arg7Trp)Charcot-Marie-Tooth disease type 2 [RCV002019020]uncertain significance1156114937156114937Human1name
151721041CV1491648single nucleotide variantNM_170707.4(LMNA):c.22C>T (p.Arg8Cys)Charcot-Marie-Tooth disease type 2 [RCV002003671]uncertain significance1156114940156114940Human1name
152086692CV1531799single nucleotide variantNM_170707.4(LMNA):c.243C>T (p.Tyr81=)Charcot-Marie-Tooth disease type 2 [RCV002077079]likely benign1156115161156115161Human1name
152121985CV1562591single nucleotide variantNM_170707.4(LMNA):c.147G>A (p.Val49=)Charcot-Marie-Tooth disease type 2 [RCV002098281]likely benign1156115065156115065Human1name
152151435CV1631400single nucleotide variantNM_170707.4(LMNA):c.132C>T (p.Val44=)Cardiovascular phenotype [RCV005370149]|Charcot-Marie-Tooth disease type 2 [RCV002179511]likely benign1156115050156115050Human1name
152028171CV1642682single nucleotide variantNM_170707.4(LMNA):c.249C>G (p.Ala83=)Charcot-Marie-Tooth disease type 2 [RCV002185747]likely benign1156115167156115167Human1name
155264950CV1704500single nucleotide variantNM_170707.4(LMNA):c.10C>G (p.Pro4Ala)Charcot-Marie-Tooth disease type 2 [RCV003101634]|not provided [RCV002284716]uncertain significance1156114928156114928Human1name
155683225CV1830198single nucleotide variantNM_170707.4(LMNA):c.103C>T (p.Leu35=)Cardiovascular phenotype [RCV002389609]|Charcot-Marie-Tooth disease type 2 [RCV005097546]likely benign1156115021156115021Human1name
156049999CV1868968single nucleotide variantNM_170707.4(LMNA):c.25G>A (p.Ala9Thr)Cardiomyopathy [RCV003533333]|Charcot-Marie-Tooth disease type 2 [RCV003052963]|Primary dilated cardiomyopathy [RCV004009309]|not provided [RCV003134603]uncertain significance1156114943156114943Human4name
10047549CV190480deletionNM_170707.4(LMNA):c.48del (p.Ser17fs)not provided [RCV000173379]pathogenic1156114965156114965Humanname
156415128CV1983197single nucleotide variantNM_170707.4(LMNA):c.207G>A (p.Val69=)Cardiomyopathy [RCV003533286]|Charcot-Marie-Tooth disease type 2 [RCV002609524]|Primary dilated cardiomyopathy [RCV004007512]likely benign1156115125156115125Human4name
156332485CV2061450single nucleotide variantNM_170707.4(LMNA):c.22C>A (p.Arg8Ser)Charcot-Marie-Tooth disease type 2 [RCV002810761]uncertain significance1156114940156114940Human1name
156074511CV2102137single nucleotide variantNM_170707.4(LMNA):c.124T>C (p.Leu42=)Charcot-Marie-Tooth disease type 2 [RCV002912492]likely benign1156115042156115042Human1name
156333061CV2171999single nucleotide variantNM_170707.4(LMNA):c.25G>C (p.Ala9Pro)Charcot-Marie-Tooth disease type 2 [RCV003029877]uncertain significance1156114943156114943Human1name
243062332CV2404745deletionNM_170707.4(LMNA):c.91del (p.Glu31fs)Congenital muscular dystrophy due to LMNA mutation [RCV003140302]uncertain significance1156115008156115008Human1name
11547536CV257922single nucleotide variantNM_170707.4(LMNA):c.111G>A (p.Glu37=)Cardiomyopathy [RCV003532072]|Cardiovascular phenotype [RCV000247889]|Primary dilated cardiomyopathy [RCV003999033]|not provided [RCV000726524]likely benign|uncertain significance1156115029156115029Human3name
11549564CV257929single nucleotide variantNM_170707.4(LMNA):c.207G>C (p.Val69=)Cardiovascular phenotype [RCV000250582]likely benign1156115125156115125Humanname
11640939CV267009single nucleotide variantNM_170707.4(LMNA):c.192C>T (p.Thr64=)Cardiomyopathy [RCV001183039]|Cardiovascular phenotype [RCV002411149]|Charcot-Marie-Tooth disease type 2 [RCV001087778]|Primary dilated cardiomyopathy [RCV003995762]|not provided [RCV000725140]|not specified [RCV000348112]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156115110156115110Human4name
11645970CV277537single nucleotide variantNM_170707.4(LMNA):c.294G>A (p.Glu98=)Charcot-Marie-Tooth disease type 2B1 [RCV000268830]|Congenital muscular dystrophy due to LMNA mutation [RCV000268358]|Dilated cardiomyopathy 1A [RCV000404276]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001101770]|Emery-Dreifuss muscular dystrophlikely benign|conflicting interpretations of pathogenicity|uncertain significance1156115212156115212Human13name
405085917CV2868212single nucleotide variantNM_170707.4(LMNA):c.195G>A (p.Glu65=)Charcot-Marie-Tooth disease type 2 [RCV003582457]likely benign1156115113156115113Human1name
405093326CV2921977single nucleotide variantNM_170707.4(LMNA):c.297C>T (p.Arg99=)Charcot-Marie-Tooth disease type 2 [RCV003583068]likely benign1156115215156115215Human1name
405093116CV2942841single nucleotide variantNM_170707.4(LMNA):c.175C>T (p.Leu59=)Charcot-Marie-Tooth disease type 2 [RCV003745618]likely benign1156115093156115093Human1name
8564259CV29516single nucleotide variantNM_170707.4(LMNA):c.16C>T (p.Gln6Ter)Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV000015564]|Primary dilated cardiomyopathy [RCV000041328]|not provided [RCV000057350]pathogenic|not provided1156114934156114934Human2name
405095705CV2958586single nucleotide variantNM_170707.4(LMNA):c.129G>C (p.Ala43=)Charcot-Marie-Tooth disease type 2 [RCV003745853]likely benign1156115047156115047Human1name
405087909CV3015658deletionNM_170707.4(LMNA):c.40del (p.Ala14fs)Charcot-Marie-Tooth disease type 2 [RCV003744526]pathogenic1156114955156114955Human1name
405075867CV3021407single nucleotide variantNM_170707.4(LMNA):c.102C>T (p.Asp34=)Charcot-Marie-Tooth disease type 2 [RCV003743145]likely benign1156115020156115020Human1name
405081959CV3056932single nucleotide variantNM_170707.4(LMNA):c.282A>G (p.Ser94=)Cardiovascular phenotype [RCV004992765]|Charcot-Marie-Tooth disease type 2 [RCV003743540]likely benign1156115200156115200Human1name
405089112CV3064030single nucleotide variantNM_170707.4(LMNA):c.204G>A (p.Glu68=)Charcot-Marie-Tooth disease type 2 [RCV003745052]likely benign1156115122156115122Human1name
405091418CV3071763single nucleotide variantNM_170707.4(LMNA):c.210C>A (p.Val70=)Charcot-Marie-Tooth disease type 2 [RCV003745231]likely benign1156115128156115128Human1name
405711660CV3231726single nucleotide variantNM_170707.4(LMNA):c.174G>T (p.Gly58=)Cardiovascular phenotype [RCV004994416]|Primary dilated cardiomyopathy [RCV004011756]likely benign|uncertain significance1156115092156115092Human1name
405715504CV3232394single nucleotide variantNM_170707.4(LMNA):c.189C>T (p.Ile63=)Primary dilated cardiomyopathy [RCV004012247]likely benign1156115107156115107Human1name
405702677CV3233463single nucleotide variantNM_170707.4(LMNA):c.273C>A (p.Thr91=)Primary dilated cardiomyopathy [RCV004009919]likely benign1156115191156115191Human1name
596928413CV3540185duplicationNM_170707.4(LMNA):c.75dup (p.Ile26fs)not provided [RCV004791178]likely pathogenic1156114992156114993Humanname
596941196CV3546136single nucleotide variantNM_170707.4(LMNA):c.126G>A (p.Leu42=)Primary dilated cardiomyopathy [RCV004806765]likely benign1156115044156115044Human1name
597722660CV3693373single nucleotide variantNM_170707.4(LMNA):c.264C>T (p.Ala88=)Cardiovascular phenotype [RCV004993745]likely benign1156115182156115182Humanname
597722669CV3693375single nucleotide variantNM_170707.4(LMNA):c.231C>A (p.Ile77=)Cardiovascular phenotype [RCV004993747]likely benign1156115149156115149Humanname
597722675CV3693376single nucleotide variantNM_170707.4(LMNA):c.285A>G (p.Val95=)Cardiovascular phenotype [RCV004993748]likely benign1156115203156115203Humanname
597722676CV3693377single nucleotide variantNM_170707.4(LMNA):c.105G>A (p.Leu35=)Cardiovascular phenotype [RCV004993749]likely benign1156115023156115023Humanname
597722685CV3693378single nucleotide variantNM_170707.4(LMNA):c.150C>G (p.Arg50=)Cardiovascular phenotype [RCV004993750]likely benign1156115068156115068Humanname
597722689CV3693379single nucleotide variantNM_170707.4(LMNA):c.168C>T (p.Asn56=)Cardiovascular phenotype [RCV004993751]likely benign1156115086156115086Humanname
597722694CV3693380single nucleotide variantNM_170707.4(LMNA):c.120T>C (p.Asp40=)Cardiovascular phenotype [RCV004993752]likely benign1156115038156115038Humanname
597722705CV3693382single nucleotide variantNM_170707.4(LMNA):c.201A>G (p.Glu67=)Cardiovascular phenotype [RCV004993754]likely benign1156115119156115119Humanname
597722709CV3701638single nucleotide variantNM_170707.4(LMNA):c.225C>T (p.Ser75=)Cardiovascular phenotype [RCV004993755]likely benign1156115143156115143Humanname
597722713CV3701639single nucleotide variantNM_170707.4(LMNA):c.129G>T (p.Ala43=)Cardiovascular phenotype [RCV004993756]likely benign1156115047156115047Humanname
597722719CV3701640single nucleotide variantNM_170707.4(LMNA):c.255C>G (p.Leu85=)Cardiovascular phenotype [RCV004993757]likely benign1156115173156115173Humanname
12891620CV390818single nucleotide variantNM_170707.4(LMNA):c.20G>A (p.Arg7Gln)Cardiomyopathy [RCV001181379]|Charcot-Marie-Tooth disease type 2 [RCV000476932]|not specified [RCV001823729]uncertain significance1156114938156114938Human3name
616934556CV4009636single nucleotide variantNM_170707.4(LMNA):c.105G>C (p.Leu35=)Cardiomyopathy [RCV005400794]likely benign1156115023156115023Human2name
616934768CV4009962single nucleotide variantNM_170707.4(LMNA):c.129G>A (p.Ala43=)Cardiomyopathy [RCV005401120]likely benign1156115047156115047Human2name
616935631CV4010220single nucleotide variantNM_170707.4(LMNA):c.213C>T (p.Ser71=)Cardiomyopathy [RCV005403521]likely benign1156115131156115131Human2name
13541950CV498064single nucleotide variantNM_170707.4(LMNA):c.153G>T (p.Ser51=)Cardiomyopathy [RCV001176365]|Cardiovascular phenotype [RCV002404668]|Charcot-Marie-Tooth disease type 2 [RCV000654002]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002476361]|Primary dilated cardiomyopathy [RCV004002571]|not provided [RCV003411457]|not specified [RCV000616855]likely benign1156115071156115071Human18name
13625792CV515136single nucleotide variantNM_170707.4(LMNA):c.138C>T (p.Ile46=)Cardiovascular phenotype [RCV002388147]|Charcot-Marie-Tooth disease type 2 [RCV000653981]|not provided [RCV000994131]likely benign1156115056156115056Human1name
13821372CV556671deletionNM_170707.4(LMNA):c.73del (p.Arg25fs)Charcot-Marie-Tooth disease type 2 [RCV000695793]pathogenic1156114989156114989Human1name
8610905CV57204single nucleotide variantNM_170707.4(LMNA):c.150C>T (p.Arg50=)Cardiomyopathy [RCV001181344]|Cardiovascular phenotype [RCV002390178]|Charcot-Marie-Tooth disease type 2 [RCV000874140]|Primary dilated cardiomyopathy [RCV003996455]|not provided [RCV001697065]|not specified [RCV000041319]likely benign1156115068156115068Human4name
8610922CV57221single nucleotide variantNM_170707.4(LMNA):c.198T>C (p.Ser66=)not specified [RCV000041339]likely benign1156115116156115116Humanname
8610923CV57222single nucleotide variantNM_170707.4(LMNA):c.261T>C (p.Asp87=)Charcot-Marie-Tooth disease type 2 [RCV002054810]|not specified [RCV000041341]likely benign1156115179156115179Human1name
14692664CV616005single nucleotide variantNM_170707.4(LMNA):c.249C>T (p.Ala83=)Cardiomyopathy [RCV000774239]|Charcot-Marie-Tooth disease type 2 [RCV001422093]|Primary dilated cardiomyopathy [RCV004001371]likely benign1156115167156115167Human4name
14711560CV655044single nucleotide variantNM_170707.4(LMNA):c.240C>T (p.Ala80=)Cardiovascular phenotype [RCV004029207]|Charcot-Marie-Tooth disease type 2 [RCV002067475]|Primary dilated cardiomyopathy [RCV004002880]|not provided [RCV000828086]likely benign1156115158156115158Human2name
8622670CV77692single nucleotide variantNM_170707.4(LMNA):c.11C>G (p.Pro4Arg)Charcot-Marie-Tooth disease type 2 [RCV000818990]|not provided [RCV000057257]pathogenic|not provided1156114929156114929Human1name
8654990CV77784duplicationNM_170707.4(LMNA):c.28dup (p.Thr10fs)not provided [RCV000057386]not provided1156114945156114946Humanname
8622763CV77787deletionNM_170707.4(LMNA):c.31del (p.Arg11fs)not provided [RCV000057389]not provided1156114947156114947Humanname
26903217CV822789single nucleotide variantNM_170707.4(LMNA):c.23G>A (p.Arg8His)Cardiomyopathy [RCV003532873]|Cardiovascular phenotype [RCV002445371]|Charcot-Marie-Tooth disease type 2 [RCV001072091]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005047288]|Primary dilated cardiomyopathy [RCV004000209]uncertain significance1156114941156114941Human18name
34892772CV906400single nucleotide variantNM_170707.4(LMNA):c.162G>A (p.Thr54=)Cardiomyopathy [RCV001176007]|Charcot-Marie-Tooth disease type 2 [RCV003744742]likely benign1156115080156115080Human3name
34897392CV906401single nucleotide variantNM_170707.4(LMNA):c.165G>A (p.Glu55=)Cardiomyopathy [RCV001186429]likely benign1156115083156115083Human2name
34893426CV906405single nucleotide variantNM_170707.4(LMNA):c.237C>T (p.Ala79=)Cardiomyopathy [RCV001183831]likely benign1156115155156115155Human2name
34895667CV906406single nucleotide variantNM_170707.4(LMNA):c.273C>T (p.Thr91=)Cardiomyopathy [RCV001185448]|Charcot-Marie-Tooth disease type 2 [RCV001396397]likely benign1156115191156115191Human3name
126733256CV1002170single nucleotide variantNM_170707.4(LMNA):c.32G>T (p.Arg11Leu)Charcot-Marie-Tooth disease type 2 [RCV001313361]uncertain significance1156114950156114950Human1name
126763679CV1022658single nucleotide variantNM_170707.4(LMNA):c.44A>C (p.Gln15Pro)Charcot-Marie-Tooth disease type 2 [RCV001341373]|Primary dilated cardiomyopathy [RCV004808019]uncertain significance1156114962156114962Human2name
127247805CV1058425duplicationNM_170707.4(LMNA):c.186dup (p.Ile63fs)Charcot-Marie-Tooth disease type 2 [RCV001384798]pathogenic1156115103156115104Human1name
127238609CV1066296single nucleotide variantNM_170707.4(LMNA):c.495G>T (p.Leu165=)Charcot-Marie-Tooth disease type 2 [RCV001397356]likely benign1156130755156130755Human1name
127267955CV1088037single nucleotide variantNM_170707.4(LMNA):c.366G>A (p.Lys122=)Cardiovascular phenotype [RCV002456730]|Charcot-Marie-Tooth disease type 2 [RCV001440657]likely benign1156130626156130626Human1name
127312372CV1109551single nucleotide variantNM_170707.4(LMNA):c.435G>A (p.Glu145=)Charcot-Marie-Tooth disease type 2 [RCV001464373]|not specified [RCV001823774]likely benign1156130695156130695Human1name
127295873CV1130452single nucleotide variantNM_170707.4(LMNA):c.354G>A (p.Ala118=)Charcot-Marie-Tooth disease type 2 [RCV001497356]likely benign1156115272156115272Human1name
127286624CV1130454single nucleotide variantNM_170707.4(LMNA):c.472C>T (p.Leu158=)Charcot-Marie-Tooth disease type 2 [RCV001494477]likely benign1156130732156130732Human1name
127308807CV1130455single nucleotide variantNM_170707.4(LMNA):c.570G>C (p.Arg190=)Charcot-Marie-Tooth disease type 2 [RCV001480696]likely benign1156134459156134459Human1name
127302165CV1130456single nucleotide variantNM_170707.4(LMNA):c.750C>T (p.Ala250=)Cardiovascular phenotype [RCV002388541]|Charcot-Marie-Tooth disease type 2 [RCV001499026]likely benign1156134915156134915Human1name
127323623CV1160081single nucleotide variantNM_170707.4(LMNA):c.927C>T (p.Leu309=)Cardiomyopathy [RCV001524156]|Charcot-Marie-Tooth disease type 2 [RCV002070303]|Primary dilated cardiomyopathy [RCV004007261]likely benign1156135303156135303Human4name
150334251CV1164065single nucleotide variantNM_170707.4(LMNA):c.71C>T (p.Thr24Ile)Cardiovascular phenotype [RCV003284369]|Charcot-Marie-Tooth disease type 2 [RCV003745339]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002495854]|Primary dilated cardiomyopathy [RCV004008915]|not provided [RCV001529465]uncertain significance1156114989156114989Human16name
150432338CV1246258single nucleotide variantNM_170707.4(LMNA):c.41C>A (p.Ala14Glu)not provided [RCV001663671]uncertain significance1156114959156114959Humanname
150487802CV1274266single nucleotide variantNM_170707.4(LMNA):c.876G>A (p.Leu292=)Charcot-Marie-Tooth disease type 2 [RCV005094889]|not provided [RCV001699935]|not specified [RCV001699639]benign|likely benign1156135252156135252Human1name
151350000CV1322915single nucleotide variantNM_170707.4(LMNA):c.606G>A (p.Glu202=)Cardiomyopathy [RCV001805242]|Cardiovascular phenotype [RCV003163943]|Charcot-Marie-Tooth disease type 2 [RCV002077250]|Primary dilated cardiomyopathy [RCV004808127]likely benign1156134495156134495Human4name
151782458CV1342008single nucleotide variantNM_170707.4(LMNA):c.540G>A (p.Lys180=)Cardiovascular phenotype [RCV002343962]|Charcot-Marie-Tooth disease type 2 [RCV001897371]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005040472]|Primary dilated cardiomyopathy [RCV004010754]likely benign1156134429156134429Human16name
151790919CV1394430single nucleotide variantNM_170707.4(LMNA):c.936G>A (p.Gln312=)Charcot-Marie-Tooth disease type 2 [RCV002047096]uncertain significance1156135312156135312Human1name
8691862CV141829single nucleotide variantNM_005572.3(LMNA):c.747G>A (p.Arg249=)not provided [RCV000126635]benign1156134912156134912Humanname
151762605CV1471332single nucleotide variantNM_170707.4(LMNA):c.43C>T (p.Gln15Ter)Charcot-Marie-Tooth disease type 2 [RCV001949326]pathogenic1156114961156114961Human1name
151740203CV1474867single nucleotide variantNM_170707.4(LMNA):c.88C>G (p.Gln30Glu)Charcot-Marie-Tooth disease type 2 [RCV001968068]uncertain significance1156115006156115006Human1name
151739273CV1492295single nucleotide variantNM_170707.4(LMNA):c.47C>A (p.Ala16Asp)Cardiovascular phenotype [RCV005350661]|Charcot-Marie-Tooth disease type 2 [RCV002042071]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002489934]|Primary dilated cardiomyopathy [RCV004009185]uncertain significance1156114965156114965Human16name
152135843CV1528375single nucleotide variantNM_170707.4(LMNA):c.852G>C (p.Leu284=)Cardiovascular phenotype [RCV004045790]|Charcot-Marie-Tooth disease type 2 [RCV002100104]likely benign1156135228156135228Human1name
152153876CV1539910single nucleotide variantNM_170707.4(LMNA):c.379C>T (p.Leu127=)Cardiomyopathy [RCV003533135]|Charcot-Marie-Tooth disease type 2 [RCV002139919]likely benign|uncertain significance1156130639156130639Human3name
152150996CV1567573single nucleotide variantNM_170707.4(LMNA):c.774G>A (p.Gln258=)Cardiomyopathy [RCV003533124]|Cardiovascular phenotype [RCV002409541]|Charcot-Marie-Tooth disease type 2 [RCV002158189]likely benign1156134939156134939Human3name
152070981CV1570192single nucleotide variantNM_170707.4(LMNA):c.699G>A (p.Lys233=)Charcot-Marie-Tooth disease type 2 [RCV002191776]likely benign1156134864156134864Human1name
152079845CV1579929single nucleotide variantNM_170707.4(LMNA):c.966C>T (p.Asp322=)Charcot-Marie-Tooth disease type 2 [RCV002076222]likely benign1156135930156135930Human1name
152080507CV1620745single nucleotide variantNM_170707.4(LMNA):c.967C>T (p.Leu323=)Charcot-Marie-Tooth disease type 2 [RCV002112686]|LMNA-related disorder [RCV004543792]likely benign1156135931156135931Human1name , alternate_id
152027232CV1626823single nucleotide variantNM_170707.4(LMNA):c.423G>A (p.Leu141=)Charcot-Marie-Tooth disease type 2 [RCV002185426]likely benign1156130683156130683Human1name
152115604CV1640043single nucleotide variantNM_170707.4(LMNA):c.375T>C (p.Gly125=)Cardiomyopathy [RCV003533110]|Charcot-Marie-Tooth disease type 2 [RCV002080847]likely benign1156130635156130635Human3name
152028299CV1642732single nucleotide variantNM_170707.4(LMNA):c.687T>C (p.Ile229=)Charcot-Marie-Tooth disease type 2 [RCV002185789]likely benign1156134852156134852Human1name
152173033CV1652866single nucleotide variantNM_170707.4(LMNA):c.609A>G (p.Glu203=)Charcot-Marie-Tooth disease type 2 [RCV002143978]likely benign1156134498156134498Human1name
9691770CV172343single nucleotide variantNM_170707.4(LMNA):c.486G>A (p.Leu162=)Cardiomyopathy [RCV001188346]|Charcot-Marie-Tooth disease [RCV001173411]|Primary dilated cardiomyopathy [RCV003998205]|not specified [RCV000150938]likely benign1156130746156130746Human4name
9690991CV172485single nucleotide variantNM_170707.4(LMNA):c.837G>A (p.Glu279=)Cardiomyopathy [RCV001188633]|Charcot-Marie-Tooth disease type 2 [RCV001465034]|not specified [RCV000156690]likely benign1156135213156135213Human3name
155702006CV1776924single nucleotide variantNM_170707.4(LMNA):c.76A>G (p.Ile26Val)Charcot-Marie-Tooth disease type 2 [RCV002300019]uncertain significance1156114994156114994Human1name
155736289CV1798661single nucleotide variantNM_170707.4(LMNA):c.468C>T (p.Arg156=)Cardiovascular phenotype [RCV002330560]likely benign1156130728156130728Humanname
155722450CV1817635single nucleotide variantNM_170707.4(LMNA):c.873G>A (p.Glu291=)Cardiovascular phenotype [RCV002449754]|Charcot-Marie-Tooth disease type 2 [RCV003744027]likely benign1156135249156135249Human1name
155694573CV1821363single nucleotide variantNM_170707.4(LMNA):c.945C>G (p.Ala315=)Cardiovascular phenotype [RCV002443471]likely benign1156135909156135909Humanname
155694598CV1821371single nucleotide variantNM_170707.4(LMNA):c.945C>T (p.Ala315=)Cardiovascular phenotype [RCV002443477]|Charcot-Marie-Tooth disease type 2 [RCV003094814]likely benign1156135909156135909Human1name
155742642CV1823840single nucleotide variantNM_170707.4(LMNA):c.807C>T (p.Ala269=)Cardiovascular phenotype [RCV002412483]|Primary dilated cardiomyopathy [RCV004005763]likely benign1156134972156134972Human1name
155698867CV1824480single nucleotide variantNM_170707.4(LMNA):c.888C>T (p.Arg296=)Cardiovascular phenotype [RCV002375996]|Charcot-Marie-Tooth disease type 2 [RCV003100048]likely benign1156135264156135264Human1name
155684002CV1825261single nucleotide variantNM_170707.4(LMNA):c.930G>A (p.Gln310=)Cardiomyopathy [RCV005401971]|Cardiovascular phenotype [RCV002371573]likely benign1156135306156135306Human2name
155801833CV1864144single nucleotide variantNM_170707.4(LMNA):c.807C>G (p.Ala269=)Primary dilated cardiomyopathy [RCV004007474]|not provided [RCV002475097]conflicting interpretations of pathogenicity|uncertain significance1156134972156134972Human1name
156301370CV1902100single nucleotide variantNM_170707.4(LMNA):c.597C>T (p.Thr199=)Charcot-Marie-Tooth disease type 2 [RCV003087944]likely benign1156134486156134486Human1name
156043272CV1914702single nucleotide variantNM_170707.4(LMNA):c.564G>A (p.Leu188=)Charcot-Marie-Tooth disease type 2 [RCV002620343]|Primary dilated cardiomyopathy [RCV004009478]likely benign1156134453156134453Human2name
10052160CV194416single nucleotide variantNM_170707.4(LMNA):c.643C>T (p.Leu215=)Cardiomyopathy [RCV001804907]|Cardiovascular phenotype [RCV002362912]|Charcot-Marie-Tooth disease type 2 [RCV001429120]|Primary dilated cardiomyopathy [RCV003996573]|not provided [RCV000585450]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156134808156134808Human4name
10056825CV196447single nucleotide variantNM_170707.4(LMNA):c.64T>G (p.Ser22Ala)not provided [RCV000182379]likely pathogenic|conflicting interpretations of pathogenicity1156114982156114982Humanname
10056826CV196448single nucleotide variantNM_170707.4(LMNA):c.77T>C (p.Ile26Thr)Cardiovascular phenotype [RCV004992063]|not provided [RCV000182380]likely pathogenic|uncertain significance1156114995156114995Humanname
10056811CV196463single nucleotide variantNM_170707.4(LMNA):c.471G>A (p.Thr157=)Cardiomyopathy [RCV000778038]|Cardiovascular phenotype [RCV002336452]|Charcot-Marie-Tooth disease type 2 [RCV001081191]|Charcot-Marie-Tooth disease type 2B1 [RCV001101972]|Congenital muscular dystrophy due to LMNA mutation [RCV001101973]|Dilated cardiomyopathy 1benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156130731156130731Human16name
10056816CV196470single nucleotide variantNM_170707.4(LMNA):c.768G>A (p.Val256=)Cardiovascular phenotype [RCV002399655]|Charcot-Marie-Tooth disease type 2 [RCV000806148]|Dilated cardiomyopathy 1A [RCV001199263]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005042396]|Primary dilated cardiomyopathy [RCV000219229]|not provided [RCV000182364]pathogenic|likely pathogenic|uncertain significance1156134933156134933Human16name
156288560CV1964774single nucleotide variantNM_170707.4(LMNA):c.40G>A (p.Ala14Thr)Charcot-Marie-Tooth disease type 2 [RCV002577738]uncertain significance1156114958156114958Human1name
156347138CV1995326single nucleotide variantNM_170707.4(LMNA):c.28A>C (p.Thr10Pro)Charcot-Marie-Tooth disease type 2 [RCV002650630]likely pathogenic1156114946156114946Human1name
156025521CV2078050single nucleotide variantNM_170707.4(LMNA):c.744G>C (p.Leu248=)Charcot-Marie-Tooth disease type 2 [RCV002866818]likely benign1156134909156134909Human1name
155911910CV2085018single nucleotide variantNM_170707.4(LMNA):c.678G>T (p.Leu226=)Charcot-Marie-Tooth disease type 2 [RCV002858557]likely benign1156134843156134843Human1name
156243850CV2086106single nucleotide variantNM_170707.4(LMNA):c.312G>C (p.Leu104=)Charcot-Marie-Tooth disease type 2 [RCV002876694]likely benign1156115230156115230Human1name
156128443CV2104328single nucleotide variantNM_170707.4(LMNA):c.696G>C (p.Gly232=)Charcot-Marie-Tooth disease type 2 [RCV002914457]likely benign1156134861156134861Human1name
156096702CV2110650single nucleotide variantNM_170707.4(LMNA):c.97G>C (p.Glu33Gln)Charcot-Marie-Tooth disease type 2 [RCV002926889]uncertain significance1156115015156115015Human1name
10448435CV214482single nucleotide variantNM_170707.4(LMNA):c.80C>G (p.Thr27Ser)Charcot-Marie-Tooth disease type 2 [RCV002517317]|Paroxysmal familial ventricular fibrillation [RCV000201884]uncertain significance1156114998156114998Human2name
155932162CV2156784single nucleotide variantNM_170707.4(LMNA):c.378C>T (p.Asp126=)Charcot-Marie-Tooth disease type 2 [RCV003013694]likely benign1156130638156130638Human1name
156303722CV2187787single nucleotide variantNM_170707.4(LMNA):c.645G>A (p.Leu215=)Charcot-Marie-Tooth disease type 2 [RCV003062084]likely benign1156134810156134810Human1name
156331995CV2188104deletionNM_170707.4(LMNA):c.205del (p.Val69fs)Charcot-Marie-Tooth disease type 2 [RCV003063750]pathogenic1156115122156115122Human1name
11060030CV226866single nucleotide variantNM_170707.4(LMNA):c.82C>G (p.Arg28Gly)Inborn genetic diseases [RCV000210645]likely pathogenic1156115000156115000Human1name
11088327CV228272single nucleotide variantNM_170707.4(LMNA):c.346C>T (p.Leu116=)Cardiomyopathy [RCV000771953]|Cardiovascular phenotype [RCV002336594]|Charcot-Marie-Tooth disease type 2 [RCV000904865]|Primary dilated cardiomyopathy [RCV003997707]|not specified [RCV000213438]likely benign|uncertain significance1156115264156115264Human4name
243062374CV2404746single nucleotide variantNM_170707.4(LMNA):c.89A>C (p.Gln30Pro)Congenital muscular dystrophy due to LMNA mutation [RCV003140303]uncertain significance1156115007156115007Human1name
11523598CV244207single nucleotide variantNM_170707.4(LMNA):c.74G>T (p.Arg25Leu)Cardiomyopathy [RCV001182288]|Cardiovascular phenotype [RCV002392726]|Charcot-Marie-Tooth disease type 2 [RCV001079756]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005044491]|Primary dilated cardiomyopathy [RCV003998902]|not provided [RCV000236179]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156114992156114992Human18name
11544634CV257936single nucleotide variantNM_170707.4(LMNA):c.927C>A (p.Leu309=)Cardiomyopathy [RCV001180367]|Cardiovascular phenotype [RCV000244053]|Charcot-Marie-Tooth disease type 2 [RCV000950061]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002500943]|Primary dilated cardiomyopathy [RCV003999028]|not specified [RCV000433510]likely benign1156135303156135303Human18name
11640808CV265812single nucleotide variantNM_170707.4(LMNA):c.726G>A (p.Ala242=)Cardiomyopathy [RCV001525715]|Cardiovascular phenotype [RCV002379110]|Charcot-Marie-Tooth disease type 2 [RCV001088674]|Primary dilated cardiomyopathy [RCV003995754]|not provided [RCV000345591]|not specified [RCV000780388]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156134891156134891Human4name
401829050CV2668630single nucleotide variantNM_170707.4(LMNA):c.95A>C (p.Lys32Thr)Congenital muscular dystrophy due to LMNA mutation [RCV003326722]pathogenic1156115013156115013Human1name
11642690CV269705single nucleotide variantNM_170707.4(LMNA):c.83G>A (p.Arg28Gln)Charcot-Marie-Tooth disease type 2 [RCV000809047]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV004577329]|not provided [RCV000380269]pathogenic|likely pathogenic|uncertain significance1156115001156115001Human2name
11643493CV269962single nucleotide variantNM_170707.4(LMNA):c.498G>A (p.Arg166=)Cardiovascular phenotype [RCV002338846]|Charcot-Marie-Tooth disease type 2 [RCV002059182]|not provided [RCV000395106]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156130758156130758Human1name
401718752CV2730929single nucleotide variantNM_170707.4(LMNA):c.31C>T (p.Arg11Cys)Cardiovascular phenotype [RCV003311164]|Charcot-Marie-Tooth disease type 2 [RCV003745581]|LMNA-related disorder [RCV004540639]|not provided [RCV004763640]uncertain significance1156114949156114949Human1name , alternate_id
11639574CV273191single nucleotide variantNM_170707.4(LMNA):c.591G>A (p.Leu197=)Cardiomyopathy [RCV003532078]|Charcot-Marie-Tooth disease type 2 [RCV002059252]|Primary dilated cardiomyopathy [RCV003995787]|not provided [RCV000323285]likely benign|uncertain significance1156134480156134480Human4name
11637023CV274945single nucleotide variantNM_170707.4(LMNA):c.732G>A (p.Ala244=)Cardiomyopathy [RCV000769725]|Cardiovascular phenotype [RCV004992167]|Charcot-Marie-Tooth disease type 2 [RCV001416242]|Primary dilated cardiomyopathy [RCV003995794]|not provided [RCV000278718]likely benign|uncertain significance1156134897156134897Human4name
401933068CV2806055single nucleotide variantNM_170707.4(LMNA):c.528A>G (p.Leu176=)not provided [RCV003409141]likely benign1156134417156134417Humanname
404978759CV2852226single nucleotide variantNM_170707.4(LMNA):c.957G>A (p.Lys319=)Cardiomyopathy [RCV003487232]likely benign1156135921156135921Human2name
405084039CV2856618single nucleotide variantNM_170707.4(LMNA):c.852G>T (p.Leu284=)Charcot-Marie-Tooth disease type 2 [RCV003582333]likely benign1156135228156135228Human1name
405083132CV2859414single nucleotide variantNM_170707.4(LMNA):c.504G>A (p.Gln168=)Cardiovascular phenotype [RCV004992627]|Charcot-Marie-Tooth disease type 2 [RCV003582262]likely benign1156130764156130764Human1name
405079968CV2863655single nucleotide variantNM_170707.4(LMNA):c.582G>A (p.Glu194=)Charcot-Marie-Tooth disease type 2 [RCV003581948]likely benign1156134471156134471Human1name
405085341CV2874138single nucleotide variantNM_170707.4(LMNA):c.516T>A (p.Leu172=)Charcot-Marie-Tooth disease type 2 [RCV003582356]uncertain significance1156134405156134405Human1name
405073939CV2887018single nucleotide variantNM_170707.4(LMNA):c.894C>T (p.Arg298=)Charcot-Marie-Tooth disease type 2 [RCV003581317]likely benign1156135270156135270Human1name
405075033CV2894287single nucleotide variantNM_170707.4(LMNA):c.304C>T (p.Leu102=)Charcot-Marie-Tooth disease type 2 [RCV003581391]likely benign1156115222156115222Human1name
405091925CV2909640single nucleotide variantNM_170707.4(LMNA):c.756T>C (p.His252=)Charcot-Marie-Tooth disease type 2 [RCV003582926]likely benign1156134921156134921Human1name
405092216CV2909921single nucleotide variantNM_170707.4(LMNA):c.74G>A (p.Arg25His)Charcot-Marie-Tooth disease type 2 [RCV003582949]likely pathogenic1156114992156114992Human1name
405063078CV2934266single nucleotide variantNM_170707.4(LMNA):c.76A>C (p.Ile26Leu)Cardiomyopathy [RCV003532550]uncertain significance1156114994156114994Human2name
405063084CV2934267single nucleotide variantNM_170707.4(LMNA):c.336G>A (p.Glu112=)Cardiomyopathy [RCV003532551]likely benign1156115254156115254Human2name
405063126CV2934272single nucleotide variantNM_170707.4(LMNA):c.900C>T (p.Asp300=)Cardiomyopathy [RCV003532556]likely benign1156135276156135276Human2name
405093505CV2943847single nucleotide variantNM_170707.4(LMNA):c.570G>A (p.Arg190=)Charcot-Marie-Tooth disease type 2 [RCV003745651]likely benign1156134459156134459Human1name
405095936CV2950364single nucleotide variantNM_170707.4(LMNA):c.507G>A (p.Val169=)Charcot-Marie-Tooth disease type 2 [RCV003745797]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005047727]uncertain significance1156130767156130767Human3name
405081988CV2975731deletionNM_170707.4(LMNA):c.274del (p.Asp93fs)Charcot-Marie-Tooth disease type 2 [RCV003744060]pathogenic1156115190156115190Human1name
405083708CV2984813single nucleotide variantNM_170707.4(LMNA):c.409C>T (p.Leu137=)Charcot-Marie-Tooth disease type 2 [RCV003744179]|not provided [RCV004765932]likely benign|uncertain significance1156130669156130669Human1name
405086144CV2991706single nucleotide variantNM_170707.4(LMNA):c.610C>T (p.Leu204=)Charcot-Marie-Tooth disease type 2 [RCV003744368]likely benign1156134499156134499Human1name
405086473CV2993173microsatelliteNM_170707.4(LMNA):c.1969-18_1969-16delCharcot-Marie-Tooth disease type 2 [RCV003744417]likely benign1156139059156139061Humanname
405088316CV3004161single nucleotide variantNM_170707.4(LMNA):c.47C>T (p.Ala16Val)Charcot-Marie-Tooth disease type 2 [RCV003744450]uncertain significance1156114965156114965Human1name
405086933CV3011404single nucleotide variantNM_170707.4(LMNA):c.786G>A (p.Glu262=)Charcot-Marie-Tooth disease type 2 [RCV003744454]likely benign1156134951156134951Human1name
405076719CV3026023duplicationNM_170707.4(LMNA):c.241dup (p.Tyr81fs)Charcot-Marie-Tooth disease type 2 [RCV003743200]pathogenic1156115158156115159Human1name
405078461CV3040883single nucleotide variantNM_170707.4(LMNA):c.318G>C (p.Leu106=)Charcot-Marie-Tooth disease type 2 [RCV003743316]likely benign1156115236156115236Human1name
405091136CV3079424single nucleotide variantNM_170707.4(LMNA):c.531T>C (p.Gly177=)Charcot-Marie-Tooth disease type 2 [RCV003745210]likely benign1156134420156134420Human1name
405020586CV3139162single nucleotide variantNM_170707.4(LMNA):c.55A>T (p.Thr19Ser)Charcot-Marie-Tooth disease type 2 [RCV003829804]uncertain significance1156114973156114973Human1name
405236218CV3166442single nucleotide variantNM_170707.4(LMNA):c.996C>T (p.Asp332=)Charcot-Marie-Tooth disease type 2 [RCV003853891]likely benign1156135960156135960Human1name
405213003CV3169763single nucleotide variantNM_170707.4(LMNA):c.645G>C (p.Leu215=)Cardiovascular phenotype [RCV004369571]|Charcot-Marie-Tooth disease type 2 [RCV003862362]likely benign1156134810156134810Human1name
405254390CV3175106single nucleotide variantNM_170707.4(LMNA):c.615C>T (p.Asp205=)Charcot-Marie-Tooth disease type 2 [RCV003871558]|Primary dilated cardiomyopathy [RCV004006165]likely benign1156134504156134504Human2name
405656728CV3227954deletionNM_170707.4(LMNA):c.174del (p.Leu59fs)Primary dilated cardiomyopathy [RCV003994696]pathogenic1156115090156115090Human1name
405738986CV3228842single nucleotide variantNM_170707.4(LMNA):c.58C>T (p.Pro20Ser)Cardiovascular phenotype [RCV004994419]|Primary dilated cardiomyopathy [RCV004014763]uncertain significance1156114976156114976Human1name
405740332CV3229216single nucleotide variantNM_170707.4(LMNA):c.562C>T (p.Leu188=)Primary dilated cardiomyopathy [RCV004014959]likely benign1156134451156134451Human1name
405723204CV3230289single nucleotide variantNM_170707.4(LMNA):c.777T>C (p.Tyr259=)Primary dilated cardiomyopathy [RCV004013041]likely benign1156134942156134942Human1name
405736047CV3230646single nucleotide variantNM_170707.4(LMNA):c.306G>A (p.Leu102=)Charcot-Marie-Tooth disease type 2 [RCV005103243]|Primary dilated cardiomyopathy [RCV004014392]likely benign1156115224156115224Human2name
405754004CV3232475single nucleotide variantNM_170707.4(LMNA):c.46G>T (p.Ala16Ser)Primary dilated cardiomyopathy [RCV004016610]uncertain significance1156114964156114964Human1name
596941209CV3546139single nucleotide variantNM_170707.4(LMNA):c.565C>A (p.Arg189=)Primary dilated cardiomyopathy [RCV004806768]likely benign1156134454156134454Human1name
12837347CV364520single nucleotide variantNM_170707.4(LMNA):c.948G>A (p.Lys316=)Cardiomyopathy [RCV001524079]|Cardiovascular phenotype [RCV002374685]|Charcot-Marie-Tooth disease type 2 [RCV000473779]|not provided [RCV001712277]benign|likely benign1156135912156135912Human3name
597722732CV3701644single nucleotide variantNM_170707.4(LMNA):c.330T>A (p.Arg110=)Cardiovascular phenotype [RCV004993760]likely benign1156115248156115248Humanname
597722737CV3701645single nucleotide variantNM_170707.4(LMNA):c.492T>C (p.Asp164=)Cardiovascular phenotype [RCV004993761]likely benign1156130752156130752Humanname
597722743CV3701646single nucleotide variantNM_170707.4(LMNA):c.501C>G (p.Gly167=)Cardiovascular phenotype [RCV004993762]likely benign1156130761156130761Humanname
597653027CV3719774single nucleotide variantNM_170707.4(LMNA):c.41C>T (p.Ala14Val)Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005041310]uncertain significance1156114959156114959Human2name
597653294CV3719797single nucleotide variantNM_170707.4(LMNA):c.64T>C (p.Ser22Pro)Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005041342]uncertain significance1156114982156114982Human2name
597921590CV3738402single nucleotide variantNM_170707.4(LMNA):c.28A>T (p.Thr10Ser)Charcot-Marie-Tooth disease type 2 [RCV005074809]likely pathogenic1156114946156114946Human1name
597852650CV3747081single nucleotide variantNM_170707.4(LMNA):c.882G>A (p.Gln294=)Charcot-Marie-Tooth disease type 2 [RCV005060710]likely benign1156135258156135258Human1name
597938748CV3759980single nucleotide variantNM_170707.4(LMNA):c.393G>A (p.Gln131=)Charcot-Marie-Tooth disease type 2 [RCV005076902]likely benign1156130653156130653Human1name
597910454CV3770377single nucleotide variantNM_170707.4(LMNA):c.29C>G (p.Thr10Ser)Charcot-Marie-Tooth disease type 2 [RCV005113678]likely pathogenic1156114947156114947Human1name
597910460CV3770378single nucleotide variantNM_170707.4(LMNA):c.44A>G (p.Gln15Arg)Charcot-Marie-Tooth disease type 2 [RCV005113679]uncertain significance1156114962156114962Human1name
597928489CV3779743deletionNM_170707.4(LMNA):c.208del (p.Val70fs)Charcot-Marie-Tooth disease type 2 [RCV005116272]pathogenic1156115125156115125Human1name
597883781CV3784310single nucleotide variantNM_170707.4(LMNA):c.441A>T (p.Ala147=)Charcot-Marie-Tooth disease type 2 [RCV005124598]likely benign1156130701156130701Human1name
597975846CV3795960single nucleotide variantNM_170707.4(LMNA):c.381G>C (p.Leu127=)Charcot-Marie-Tooth disease type 2 [RCV005144791]likely benign1156130641156130641Human1name
597954970CV3809374single nucleotide variantNM_170707.4(LMNA):c.525C>T (p.Ala175=)Charcot-Marie-Tooth disease type 2 [RCV005162098]likely benign1156134414156134414Human1name
597888749CV3839484single nucleotide variantNM_170707.4(LMNA):c.85C>A (p.Leu29Met)Charcot-Marie-Tooth disease type 2 [RCV005179376]uncertain significance1156115003156115003Human1name
597899839CV3850854single nucleotide variantNM_170707.4(LMNA):c.384A>T (p.Ile128=)Charcot-Marie-Tooth disease type 2 [RCV005201838]likely benign1156130644156130644Human1name
597938558CV3852858duplicationNM_170707.4(LMNA):c.282dup (p.Val95fs)Charcot-Marie-Tooth disease type 2 [RCV005187259]pathogenic1156115199156115200Human1name
597915859CV3860922single nucleotide variantNM_170707.4(LMNA):c.891C>T (p.Ile297=)Charcot-Marie-Tooth disease type 2 [RCV005204285]likely benign1156135267156135267Human1name
12886895CV390813single nucleotide variantNM_170707.4(LMNA):c.711T>C (p.Phe237=)Cardiovascular phenotype [RCV002367595]|Charcot-Marie-Tooth disease type 2 [RCV001481809]likely benign1156134876156134876Human1name
12883611CV390829single nucleotide variantNM_170707.4(LMNA):c.681G>A (p.Val227=)Charcot-Marie-Tooth disease type 2 [RCV001455501]|not specified [RCV005404609]likely benign1156134846156134846Human1name
616934662CV4009801single nucleotide variantNM_170707.4(LMNA):c.306G>C (p.Leu102=)Cardiomyopathy [RCV005400959]likely benign1156115224156115224Human2name
616937358CV4010999single nucleotide variantNM_170707.4(LMNA):c.906C>T (p.Leu302=)not specified [RCV005404843]likely benign1156135282156135282Humanname
13482605CV447227single nucleotide variantNM_170707.4(LMNA):c.94A>G (p.Lys32Glu)Charcot-Marie-Tooth disease type 2 [RCV000529491]|Congenital muscular dystrophy due to LMNA mutation [RCV000785916]pathogenic|likely pathogenic1156115012156115012Human2name
13498378CV447231single nucleotide variantNM_170707.4(LMNA):c.771G>A (p.Glu257=)Cardiovascular phenotype [RCV002404568]|Charcot-Marie-Tooth disease type 2 [RCV001493413]|Primary dilated cardiomyopathy [RCV003999470]likely benign1156134936156134936Human2name
13480829CV447240single nucleotide variantNM_170707.4(LMNA):c.477G>A (p.Glu159=)Cardiovascular phenotype [RCV002341465]|Charcot-Marie-Tooth disease type 2 [RCV001432751]likely benign1156130737156130737Human1name
13486847CV447243single nucleotide variantNM_170707.4(LMNA):c.870G>A (p.Glu290=)Cardiomyopathy [RCV001191882]|Cardiovascular phenotype [RCV002448795]|Charcot-Marie-Tooth disease type 2 [RCV000553950]|Primary dilated cardiomyopathy [RCV003999471]|not provided [RCV000597468]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156135246156135246Human4name
13464666CV447254single nucleotide variantNM_170707.4(LMNA):c.897C>T (p.Ile299=)Cardiomyopathy [RCV001185071]|Cardiovascular phenotype [RCV000617823]|Charcot-Marie-Tooth disease type 2 [RCV000542339]|Primary dilated cardiomyopathy [RCV003999472]likely benign|conflicting interpretations of pathogenicity1156135273156135273Human4name
13494446CV447317single nucleotide variantNM_170707.4(LMNA):c.990G>A (p.Glu330=)Cardiomyopathy [RCV001805190]|Cardiovascular phenotype [RCV000621804]|Charcot-Marie-Tooth disease type 2 [RCV001078841]|not provided [RCV000831068]|not specified [RCV005239219]likely benign1156135954156135954Human3name
13518522CV486016single nucleotide variantNM_170707.4(LMNA):c.867C>T (p.His289=)Cardiomyopathy [RCV001178182]|Cardiovascular phenotype [RCV002448816]|Charcot-Marie-Tooth disease type 2 [RCV001454538]|LMNA-related disorder [RCV004530631]|Primary dilated cardiomyopathy [RCV004002385]|not provided [RCV000584877]likely benign|uncertain significance1156135243156135243Human4name , alternate_id
13519723CV490436single nucleotide variantNM_170707.4(LMNA):c.483G>A (p.Glu161=)Cardiovascular phenotype [RCV002341521]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002483600]|not provided [RCV000598095]likely benign|uncertain significance1156130743156130743Human15name
13520060CV490807single nucleotide variantNM_170707.4(LMNA):c.528A>T (p.Leu176=)Cardiomyopathy [RCV001178641]|Charcot-Marie-Tooth disease type 2 [RCV001448884]|Primary dilated cardiomyopathy [RCV004002459]|not provided [RCV000598349]likely benign|uncertain significance1156134417156134417Human4name
13541965CV498067single nucleotide variantNM_170707.4(LMNA):c.657G>A (p.Lys219=)Cardiovascular phenotype [RCV002368042]|not specified [RCV000616882]likely benign1156134822156134822Humanname
13538466CV498071single nucleotide variantNM_170707.4(LMNA):c.526C>T (p.Leu176=)Charcot-Marie-Tooth disease type 2 [RCV001440390]|not specified [RCV000611876]likely benign1156134415156134415Human1name
13533485CV509112single nucleotide variantNM_170707.4(LMNA):c.480C>T (p.Gly160=)Cardiomyopathy [RCV003532203]|Cardiovascular phenotype [RCV000617617]|Charcot-Marie-Tooth disease type 2 [RCV001314765]|Primary dilated cardiomyopathy [RCV004002700]likely benign|uncertain significance1156130740156130740Human4name
13528917CV509114single nucleotide variantNM_170707.4(LMNA):c.579T>C (p.Ala193=)Cardiomyopathy [RCV001185528]|Cardiovascular phenotype [RCV000621074]|Charcot-Marie-Tooth disease [RCV001173405]|Charcot-Marie-Tooth disease type 2 [RCV001485044]|Primary dilated cardiomyopathy [RCV004002685]|not provided [RCV000712225]likely benign1156134468156134468Human5name
13533310CV509116single nucleotide variantNM_170707.4(LMNA):c.729T>C (p.Asp243=)Cardiomyopathy [RCV001176482]|Cardiovascular phenotype [RCV000617357]|Charcot-Marie-Tooth disease type 2 [RCV003581699]|Primary dilated cardiomyopathy [RCV004002712]likely benign1156134894156134894Human4name
13529144CV513494single nucleotide variantNM_170707.4(LMNA):c.59C>T (p.Pro20Leu)Charcot-Marie-Tooth disease type 2 [RCV003581701]|Congenital muscular dystrophy due to LMNA mutation [RCV000626229]likely pathogenic|uncertain significance1156114977156114977Human2name
13821187CV556955single nucleotide variantNM_170707.4(LMNA):c.91G>A (p.Glu31Lys)Charcot-Marie-Tooth disease type 2 [RCV000695532]|not provided [RCV003456423]pathogenic1156115009156115009Human1name
8610926CV57226single nucleotide variantNM_170707.4(LMNA):c.357C>T (p.Arg119=)Cardiomyopathy [RCV000768710]|Cardiovascular phenotype [RCV000249770]|Charcot-Marie-Tooth disease [RCV001173420]|Charcot-Marie-Tooth disease type 2 [RCV001081311]|Charcot-Marie-Tooth disease type 2B1 [RCV001101880]|Congenital muscular dystrophy due to LMNA mutatpathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided1156130617156130617Human17name , alternate_id
8610930CV57230single nucleotide variantNM_170707.4(LMNA):c.438C>T (p.Ala146=)Cardiomyopathy [RCV000768711]|Cardiovascular phenotype [RCV000617451]|Charcot-Marie-Tooth disease type 2 [RCV001086851]|LMNA-related disorder [RCV004528232]|Primary dilated cardiomyopathy [RCV003996463]|not provided [RCV000587594]|not specified [RCV000041349]benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters1156130698156130698Human4name , alternate_id
8610934CV57235single nucleotide variantNM_170707.4(LMNA):c.612G>A (p.Leu204=)Cardiomyopathy [RCV000768713]|Cardiovascular phenotype [RCV000253205]|Charcot-Marie-Tooth disease [RCV001173422]|Charcot-Marie-Tooth disease type 2 [RCV000226227]|Charcot-Marie-Tooth disease type 2B1 [RCV001093797]|Congenital muscular dystrophy due to LMNA mutatlikely pathogenic|benign|likely benign|not provided1156134501156134501Human18name
8610944CV57246single nucleotide variantNM_170707.4(LMNA):c.789G>A (p.Leu263=)Cardiomyopathy [RCV001178117]|Cardiovascular phenotype [RCV000617711]|Charcot-Marie-Tooth disease type 2 [RCV001085667]|Primary dilated cardiomyopathy [RCV003996465]|not provided [RCV000723485]|not specified [RCV000041367]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156134954156134954Human4name
8610950CV57252single nucleotide variantNM_170707.4(LMNA):c.861T>C (p.Ala287=)Cardiomyopathy [RCV000776003]|Cardiovascular phenotype [RCV000249986]|Charcot-Marie-Tooth disease [RCV001173415]|Charcot-Marie-Tooth disease type 2 [RCV000408212]|Charcot-Marie-Tooth disease type 2B1 [RCV001093907]|Congenital muscular dystrophy due to LMNA mutatbenign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided1156135237156135237Human18name
8610956CV57258single nucleotide variantNM_170707.4(LMNA):c.954G>A (p.Ala318=)Charcot-Marie-Tooth disease type 2 [RCV001447601]|Primary dilated cardiomyopathy [RCV003996466]|not provided [RCV002225280]|not specified [RCV000041380]likely benign|uncertain significance1156135918156135918Human2name
13810277CV576411single nucleotide variantNM_170707.4(LMNA):c.65C>T (p.Ser22Leu)Cardiomyopathy [RCV001798969]|Cardiovascular phenotype [RCV005348205]|Charcot-Marie-Tooth disease type 2 [RCV001318123]|Dilated cardiomyopathy 1A [RCV003147538]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002477648]|Primary dilated cardiomyopathy [RCV003999795]|not provided [Rlikely pathogenic|uncertain significance1156114983156114983Human18name
14692153CV616007single nucleotide variantNM_170707.4(LMNA):c.969G>A (p.Leu323=)Cardiomyopathy [RCV000773421]|Charcot-Marie-Tooth disease type 2 [RCV002067266]likely benign1156135933156135933Human3name
14725840CV626902single nucleotide variantNM_170707.4(LMNA):c.71C>G (p.Thr24Ser)Cardiomyopathy [RCV003532266]|Cardiovascular phenotype [RCV002370101]|Charcot-Marie-Tooth disease type 2 [RCV000798982]uncertain significance1156114989156114989Human3name
14718637CV626903single nucleotide variantNM_170707.4(LMNA):c.94A>T (p.Lys32Ter)Charcot-Marie-Tooth disease type 2 [RCV000812291]|Dilated cardiomyopathy 1A [RCV004789213]pathogenic1156115012156115012Human3name
14728493CV626910single nucleotide variantNM_170707.4(LMNA):c.573G>A (p.Val191=)Cardiovascular phenotype [RCV003166354]|Charcot-Marie-Tooth disease type 2 [RCV000816543]|Primary dilated cardiomyopathy [RCV004807203]likely benign|uncertain significance1156134462156134462Human2name
14977180CV677482deletionNM_170707.4(LMNA):c.1157+23_1158-45delLMNA-associated condition [RCV000850629]likely pathogenic1156136142156136167Humanname
28881792CV682590single nucleotide variantNM_170707.4(LMNA):c.58C>A (p.Pro20Thr)Hypertrophic cardiomyopathy [RCV001093543]likely pathogenic1156114976156114976Human1name
15139146CV685573single nucleotide variantNM_170707.4(LMNA):c.885G>A (p.Ser295=)Cardiomyopathy [RCV001176530]|Cardiovascular phenotype [RCV002372417]|Charcot-Marie-Tooth disease type 2 [RCV000864955]|Primary dilated cardiomyopathy [RCV004002953]|not specified [RCV001000647]likely benign1156135261156135261Human4name
15156050CV685574single nucleotide variantNM_170707.4(LMNA):c.951G>A (p.Glu317=)Charcot-Marie-Tooth disease type 2 [RCV001417843]|LMNA-related disorder [RCV004538266]likely benign1156135915156135915Human1name , alternate_id
15124023CV690376single nucleotide variantNM_170707.4(LMNA):c.852G>A (p.Leu284=)Charcot-Marie-Tooth disease type 2 [RCV001442109]likely benign1156135228156135228Human1name
15123797CV745732single nucleotide variantNM_170707.4(LMNA):c.339T>C (p.Phe113=)Cardiovascular phenotype [RCV004994109]|Charcot-Marie-Tooth disease type 2 [RCV001436785]likely benign1156115257156115257Human1name
15200919CV745733single nucleotide variantNM_170707.4(LMNA):c.496C>A (p.Arg166=)Charcot-Marie-Tooth disease type 2 [RCV001436333]likely benign1156130756156130756Human1name
15133783CV745734single nucleotide variantNM_170707.4(LMNA):c.822C>G (p.Ala274=)Charcot-Marie-Tooth disease type 2 [RCV000920575]|Primary dilated cardiomyopathy [RCV004003185]likely benign1156135198156135198Human2name
15107115CV761249single nucleotide variantNM_170707.4(LMNA):c.372G>A (p.Glu124=)Cardiovascular phenotype [RCV003363020]|Charcot-Marie-Tooth disease type 2 [RCV001405568]likely benign1156130632156130632Human1name
15116320CV761250single nucleotide variantNM_170707.4(LMNA):c.909T>A (p.Ser303=)Charcot-Marie-Tooth disease type 2 [RCV001451208]likely benign1156135285156135285Human1name
8622761CV77785single nucleotide variantNM_170707.4(LMNA):c.29C>T (p.Thr10Ile)Dilated cardiomyopathy 1A [RCV000015599]|Familial partial lipodystrophy, Dunnigan type [RCV000502816]|Inborn genetic diseases [RCV000622546]|Lipodystrophy [RCV000755005]|not provided [RCV000057387]pathogenic|likely pathogenic|not provided1156114947156114947Human6name
8622775CV77799single nucleotide variantNM_170707.4(LMNA):c.513G>A (p.Lys171=)Charcot-Marie-Tooth disease type 2 [RCV001231297]|not provided [RCV000057412]likely pathogenic|not provided1156130773156130773Human1name
8622799CV77823single nucleotide variantNM_170707.4(LMNA):c.723G>A (p.Leu241=)not provided [RCV000057447]not provided1156134888156134888Humanname
8622801CV77825single nucleotide variantNM_170707.4(LMNA):c.73C>G (p.Arg25Gly)Cardiovascular phenotype [RCV002381367]|Charcot-Marie-Tooth disease type 2 [RCV001048135]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV005409613]|not provided [RCV000057449]pathogenic|likely pathogenic|uncertain significance|not provided1156114991156114991Human3name
8622802CV77826single nucleotide variantNM_170707.4(LMNA):c.73C>T (p.Arg25Cys)Cardiovascular phenotype [RCV002381368]|Charcot-Marie-Tooth disease type 2 [RCV001049614]|Dilated cardiomyopathy 1A [RCV005001985]|not provided [RCV000057450]likely pathogenic|uncertain significance|not provided1156114991156114991Human4name
8622805CV77829single nucleotide variantNM_170707.4(LMNA):c.74G>C (p.Arg25Pro)Charcot-Marie-Tooth disease type 2 [RCV002513740]|not provided [RCV000057454]likely pathogenic|not provided1156114992156114992Human1name
8622815CV77839single nucleotide variantNM_170707.4(LMNA):c.810G>A (p.Lys270=)Charcot-Marie-Tooth disease type 2 [RCV005089471]|not provided [RCV000057468]uncertain significance|not provided1156134975156134975Human1name
8622819CV77843single nucleotide variantNM_170707.4(LMNA):c.82C>T (p.Arg28Trp)Charcot-Marie-Tooth disease type 2 [RCV000653924]|not provided [RCV000057473]pathogenic|not provided1156115000156115000Human1name
8622835CV77859single nucleotide variantNM_170707.4(LMNA):c.98A>G (p.Glu33Gly)Charcot-Marie-Tooth disease type 2 [RCV002513742]|not provided [RCV000057495]pathogenic|not provided1156115016156115016Human1name
8622837CV77861single nucleotide variantNM_170707.4(LMNA):c.99G>C (p.Glu33Asp)not provided [RCV000057497]likely pathogenic|not provided1156115017156115017Humanname
8622838CV77862single nucleotide variantNM_170707.4(LMNA):c.99G>T (p.Glu33Asp)Charcot-Marie-Tooth disease [RCV000790002]|Charcot-Marie-Tooth disease type 2 [RCV001854179]|not provided [RCV000057498]pathogenic|uncertain significance|not provided1156115017156115017Human2name
21069316CV792654single nucleotide variantNM_170707.4(LMNA):c.80C>T (p.Thr27Ile)Charcot-Marie-Tooth disease type 2 [RCV005092985]|Dilated cardiomyopathy 1A [RCV000991275]likely pathogenic1156114998156114998Human3name
26887248CV822791deletionNM_170707.4(LMNA):c.210del (p.Ser71fs)Charcot-Marie-Tooth disease type 2 [RCV001044761]pathogenic1156115128156115128Human1name
28880312CV858766single nucleotide variantNM_170707.4(LMNA):c.62T>C (p.Leu21Pro)Charcot-Marie-Tooth disease type 2 [RCV002298871]|Developmental regression [RCV001090180]uncertain significance1156114980156114980Human4name
28893325CV903710single nucleotide variantNM_170707.4(LMNA):c.37G>A (p.Gly13Arg)Cardiomyopathy [RCV001170448]uncertain significance1156114955156114955Human2name
34899852CV906408single nucleotide variantNM_170707.4(LMNA):c.300C>G (p.Ala100=)Cardiomyopathy [RCV001189057]likely benign1156115218156115218Human2name
34894715CV906409single nucleotide variantNM_170707.4(LMNA):c.369G>A (p.Lys123=)Cardiomyopathy [RCV001184852]|Cardiovascular phenotype [RCV002356847]|Charcot-Marie-Tooth disease type 2 [RCV001426027]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002480613]|Primary dilated cardiomyopathy [RCV004008491]likely benign1156130629156130629Human18name
34899994CV906411single nucleotide variantNM_170707.4(LMNA):c.480C>A (p.Gly160=)Cardiomyopathy [RCV001189286]|Charcot-Marie-Tooth disease type 2 [RCV003117829]|Primary dilated cardiomyopathy [RCV004010354]likely benign1156130740156130740Human4name
34900601CV906416single nucleotide variantNM_170707.4(LMNA):c.537C>T (p.Ala179=)Cardiomyopathy [RCV001190328]likely benign1156134426156134426Human2name
34893927CV906418single nucleotide variantNM_170707.4(LMNA):c.624G>A (p.Lys208=)Cardiomyopathy [RCV001176943]|Charcot-Marie-Tooth disease type 2 [RCV002559708]likely benign1156134513156134513Human3name
34889326CV906419single nucleotide variantNM_170707.4(LMNA):c.660C>T (p.Arg220=)Cardiomyopathy [RCV001181411]|Cardiovascular phenotype [RCV004994282]likely benign1156134825156134825Human2name
34892775CV906420single nucleotide variantNM_170707.4(LMNA):c.678G>A (p.Leu226=)Cardiomyopathy [RCV001176008]|Cardiovascular phenotype [RCV002365834]|Charcot-Marie-Tooth disease type 2 [RCV001426917]|Primary dilated cardiomyopathy [RCV004000313]likely benign1156134843156134843Human4name
34898880CV906421single nucleotide variantNM_170707.4(LMNA):c.693T>C (p.Asn231=)Cardiomyopathy [RCV001180344]likely benign1156134858156134858Human2name
34893214CV906422single nucleotide variantNM_170707.4(LMNA):c.765G>A (p.Gln255=)Cardiomyopathy [RCV001183665]|Charcot-Marie-Tooth disease type 2 [RCV002068360]|Primary dilated cardiomyopathy [RCV004008398]likely benign1156134930156134930Human4name
34898705CV906424single nucleotide variantNM_170707.4(LMNA):c.843C>T (p.Asn281=)Cardiomyopathy [RCV001180196]|Charcot-Marie-Tooth disease type 2 [RCV001401182]likely benign1156135219156135219Human3name
38473845CV921664single nucleotide variantNM_170707.4(LMNA):c.92A>G (p.Glu31Gly)Charcot-Marie-Tooth disease type 2 [RCV001214508]pathogenic1156115010156115010Human1name
38484734CV941494single nucleotide variantNM_170707.4(LMNA):c.471G>T (p.Thr157=)Charcot-Marie-Tooth disease type 2 [RCV001236489]uncertain significance1156130731156130731Human1name
126772897CV1002179single nucleotide variantNM_170707.4(LMNA):c.1608A>G (p.Glu536=)Cardiovascular phenotype [RCV004995681]|Charcot-Marie-Tooth disease type 2 [RCV001324017]likely benign|uncertain significance1156137232156137232Human1name
126737379CV1015563single nucleotide variantNM_170707.4(LMNA):c.133T>C (p.Tyr45His)Charcot-Marie-Tooth disease type 2 [RCV003581785]|Congenital muscular dystrophy due to LMNA mutation [RCV001823197]|Dilated cardiomyopathy 1A [RCV001328735]likely pathogenic|uncertain significance1156115051156115051Human4name
126744716CV1015564single nucleotide variantNM_170707.4(LMNA):c.187A>C (p.Ile63Leu)Cardiovascular phenotype [RCV003365335]|Charcot-Marie-Tooth disease type 2 [RCV001367762]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002499650]|Hutchinson-Gilford syndrome [RCV001330500]|not specified [RCV001823769]likely pathogenic|uncertain significance1156115105156115105Human16name
127254599CV1054742single nucleotide variantNM_170707.4(LMNA):c.112C>G (p.Leu38Val)Charcot-Marie-Tooth disease type 2 [RCV001379195]likely pathogenic1156115030156115030Human1name
127260312CV1058426single nucleotide variantNM_170707.4(LMNA):c.194A>G (p.Glu65Gly)Charcot-Marie-Tooth disease type 2 [RCV001387324]pathogenic1156115112156115112Human1name
127246304CV1058427single nucleotide variantNM_170707.4(LMNA):c.275T>C (p.Leu92Pro)Charcot-Marie-Tooth disease type 2 [RCV001384525]pathogenic1156115193156115193Human1name
127233629CV1066297single nucleotide variantNM_170707.4(LMNA):c.1038C>T (p.Ala346=)Cardiomyopathy [RCV003486983]|Cardiovascular phenotype [RCV002395889]|Charcot-Marie-Tooth disease type 2 [RCV001396198]|not provided [RCV001702591]likely benign1156136002156136002Human3name
127266834CV1066298single nucleotide variantNM_170707.4(LMNA):c.1128C>T (p.Tyr376=)Charcot-Marie-Tooth disease type 2 [RCV001403955]likely benign1156136092156136092Human1name
127232027CV1066299single nucleotide variantNM_170707.4(LMNA):c.1590C>T (p.Leu530=)Cardiovascular phenotype [RCV004995745]|Charcot-Marie-Tooth disease type 2 [RCV001395533]likely benign1156137214156137214Human1name
127231792CV1066300single nucleotide variantNM_170707.4(LMNA):c.1617C>G (p.Ala539=)Charcot-Marie-Tooth disease type 2 [RCV001413223]likely benign1156137662156137662Human1name
127230543CV1066301single nucleotide variantNM_170707.4(LMNA):c.1782T>C (p.Pro594=)Cardiovascular phenotype [RCV004995742]|Charcot-Marie-Tooth disease type 2 [RCV001394731]likely benign1156138571156138571Human1name
127282680CV1088039single nucleotide variantNM_170707.4(LMNA):c.1027C>A (p.Arg343=)Cardiomyopathy [RCV001525897]|Charcot-Marie-Tooth disease type 2 [RCV001448034]|Primary dilated cardiomyopathy [RCV004007043]likely benign1156135991156135991Human4name
127262122CV1088041single nucleotide variantNM_170707.4(LMNA):c.1521C>T (p.Ser507=)Charcot-Marie-Tooth disease type 2 [RCV001438871]likely benign1156137145156137145Human1name
127278378CV1088042single nucleotide variantNM_170707.4(LMNA):c.1534C>T (p.Leu512=)Charcot-Marie-Tooth disease type 2 [RCV001445038]|not specified [RCV003331157]likely benign1156137158156137158Human1name
127247125CV1088043single nucleotide variantNM_170707.4(LMNA):c.1539G>A (p.Val513=)Cardiomyopathy [RCV001526172]|Cardiovascular phenotype [RCV004631705]|Charcot-Marie-Tooth disease type 2 [RCV001435571]likely benign|uncertain significance1156137163156137163Human3name
127269175CV1088045single nucleotide variantNM_170707.4(LMNA):c.1641G>T (p.Val547=)Charcot-Marie-Tooth disease type 2 [RCV001440998]likely benign1156137686156137686Human1name
127234937CV1088046single nucleotide variantNM_170707.4(LMNA):c.1719G>A (p.Ser573=)Charcot-Marie-Tooth disease type 2 [RCV001432991]|not provided [RCV003311990]likely benign1156138508156138508Human1name
127294012CV1109553single nucleotide variantNM_170707.4(LMNA):c.1138T>C (p.Leu380=)Cardiovascular phenotype [RCV002322491]|Charcot-Marie-Tooth disease type 2 [RCV001452150]|Primary dilated cardiomyopathy [RCV004007050]likely benign1156136102156136102Human2name
127308391CV1109555single nucleotide variantNM_170707.4(LMNA):c.1314G>T (p.Gly438=)Charcot-Marie-Tooth disease type 2 [RCV001463298]likely benign1156136370156136370Human1name
127333864CV1109556single nucleotide variantNM_170707.4(LMNA):c.1323C>A (p.Ala441=)Charcot-Marie-Tooth disease type 2 [RCV001473180]likely benign1156136379156136379Human1name
127298332CV1109557single nucleotide variantNM_170707.4(LMNA):c.1362G>A (p.Leu454=)Cardiovascular phenotype [RCV002384705]|Charcot-Marie-Tooth disease type 2 [RCV001453275]|Primary dilated cardiomyopathy [RCV004007051]likely benign|uncertain significance1156136418156136418Human2name
127294797CV1109558single nucleotide variantNM_170707.4(LMNA):c.1692C>T (p.His564=)Cardiovascular phenotype [RCV004995849]|Charcot-Marie-Tooth disease type 2 [RCV001459550]likely benign1156137737156137737Human1name
127318000CV1109559single nucleotide variantNM_170707.4(LMNA):c.1893C>A (p.Gly631=)Charcot-Marie-Tooth disease type 2 [RCV001466049]likely benign1156138682156138682Human1name
127338211CV1130457single nucleotide variantNM_170707.4(LMNA):c.1350G>A (p.Lys450=)Charcot-Marie-Tooth disease type 2 [RCV001493687]likely benign1156136406156136406Human1name
127322786CV1130458single nucleotide variantNM_170707.4(LMNA):c.1644T>G (p.Thr548=)Charcot-Marie-Tooth disease type 2 [RCV001485030]likely benign1156137689156137689Human1name
127313892CV1130459single nucleotide variantNM_170707.4(LMNA):c.1758G>A (p.Val586=)Charcot-Marie-Tooth disease type 2 [RCV001482096]likely benign1156138547156138547Human1name
127306991CV1130460single nucleotide variantNM_170707.4(LMNA):c.1759C>T (p.Leu587=)Charcot-Marie-Tooth disease type 2 [RCV001480218]likely benign1156138548156138548Human1name
127308204CV1130461single nucleotide variantNM_170707.4(LMNA):c.1815C>A (p.Ala605=)Charcot-Marie-Tooth disease type 2 [RCV001500735]likely benign1156138604156138604Human1name
127288955CV1151821single nucleotide variantNM_170707.4(LMNA):c.181C>T (p.Leu61Phe)not provided [RCV001508891]uncertain significance1156115099156115099Humanname
127325408CV1160077single nucleotide variantNM_170707.4(LMNA):c.226G>A (p.Gly76Ser)Cardiomyopathy [RCV001525305]|Charcot-Marie-Tooth disease type 2 [RCV001873665]|Primary dilated cardiomyopathy [RCV004008835]uncertain significance1156115144156115144Human4name
127323198CV1160084single nucleotide variantNM_170707.4(LMNA):c.1356C>A (p.Val452=)Cardiomyopathy [RCV001523911]|Charcot-Marie-Tooth disease type 2 [RCV002568048]likely benign1156136412156136412Human3name
127323305CV1160088single nucleotide variantNM_170707.4(LMNA):c.1785C>A (p.Ala595=)Cardiomyopathy [RCV001523972]|Cardiovascular phenotype [RCV004995932]likely benign1156138574156138574Human2name
127326787CV1160089single nucleotide variantNM_170707.4(LMNA):c.1812A>G (p.Gly604=)Cardiomyopathy [RCV001526219]|Charcot-Marie-Tooth disease type 2 [RCV005094710]likely benign1156138601156138601Human3name
150547625CV1292105single nucleotide variantNM_170707.4(LMNA):c.112C>T (p.Leu38Phe)Charcot-Marie-Tooth disease type 2 [RCV001861044]|Congenital muscular dystrophy due to LMNA mutation [RCV003136132]|not specified [RCV001733771]likely pathogenic|uncertain significance1156115030156115030Human2name
150551848CV1298938single nucleotide variantNM_170707.4(LMNA):c.164A>G (p.Glu55Gly)Hutchinson-Gilford syndrome [RCV001754577]likely pathogenic1156115082156115082Human1name
151348830CV1322735single nucleotide variantNM_170707.4(LMNA):c.1593C>A (p.Ile531=)Cardiomyopathy [RCV001804531]|Charcot-Marie-Tooth disease type 2 [RCV002541408]likely benign1156137217156137217Human3name
151351036CV1323290single nucleotide variantNM_170707.4(LMNA):c.1584G>C (p.Thr528=)Cardiomyopathy [RCV001805618]|Charcot-Marie-Tooth disease type 2 [RCV002542409]|Primary dilated cardiomyopathy [RCV004808133]|not provided [RCV003130550]likely benign|uncertain significance1156137208156137208Human4name
151664395CV1332566single nucleotide variantNM_170707.4(LMNA):c.168C>G (p.Asn56Lys)Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV001829276]likely pathogenic1156115086156115086Human2name
151816677CV1344620single nucleotide variantNM_170707.4(LMNA):c.203A>T (p.Glu68Val)Charcot-Marie-Tooth disease type 2 [RCV001919151]pathogenic|uncertain significance1156115121156115121Human1name
151829796CV1348516single nucleotide variantNM_170707.4(LMNA):c.280T>C (p.Ser94Pro)Charcot-Marie-Tooth disease type 2 [RCV001870422]pathogenic|uncertain significance1156115198156115198Human1name
151765913CV1348530single nucleotide variantNM_170707.4(LMNA):c.1380G>A (p.Glu460=)Charcot-Marie-Tooth disease type 2 [RCV001895852]uncertain significance1156136436156136436Human1name
151843253CV1357880single nucleotide variantNM_170707.4(LMNA):c.142C>G (p.Arg48Gly)Charcot-Marie-Tooth disease type 2 [RCV001881619]likely pathogenic|uncertain significance1156115060156115060Human1name
151737471CV1362062single nucleotide variantNM_170707.4(LMNA):c.1158G>A (p.Arg386=)Charcot-Marie-Tooth disease type 2 [RCV001967791]uncertain significance1156136214156136214Human1name
151865740CV1381161single nucleotide variantNM_170707.4(LMNA):c.238G>C (p.Ala80Pro)Charcot-Marie-Tooth disease type 2 [RCV002018315]|Dilated cardiomyopathy 1A [RCV004785456]uncertain significance1156115156156115156Human3name
151887340CV1386246single nucleotide variantNM_170707.4(LMNA):c.266G>C (p.Arg89Pro)Charcot-Marie-Tooth disease type 2 [RCV001942368]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV004785349]likely pathogenic|uncertain significance1156115184156115184Human2name
151810145CV1393340deletionNM_170707.4(LMNA):c.822del (p.Arg275fs)Charcot-Marie-Tooth disease type 2 [RCV001953733]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002492131]pathogenic|likely pathogenic1156135197156135197Human3name
151819117CV1415925single nucleotide variantNM_170707.4(LMNA):c.108G>T (p.Gln36His)Charcot-Marie-Tooth disease type 2 [RCV001919389]|Congenital muscular dystrophy due to LMNA mutation [RCV003128831]uncertain significance1156115026156115026Human2name
151833513CV1439380single nucleotide variantNM_170707.4(LMNA):c.125T>C (p.Leu42Ser)Charcot-Marie-Tooth disease type 2 [RCV001976882]likely pathogenic|uncertain significance1156115043156115043Human1name
151713751CV1451149single nucleotide variantNM_170707.4(LMNA):c.135C>G (p.Tyr45Ter)Charcot-Marie-Tooth disease type 2 [RCV002002508]pathogenic1156115053156115053Human1name
151834814CV1471333single nucleotide variantNM_170707.4(LMNA):c.128C>A (p.Ala43Glu)Charcot-Marie-Tooth disease type 2 [RCV001956044]pathogenic1156115046156115046Human1name
151770383CV1481753single nucleotide variantNM_170707.4(LMNA):c.295C>T (p.Arg99Cys)Charcot-Marie-Tooth disease type 2 [RCV002008787]uncertain significance1156115213156115213Human1name
151761351CV1496391indelNM_170707.4(LMNA):c.937-9_937-8delinsAGCharcot-Marie-Tooth disease type 2 [RCV001895356]uncertain significance1156135892156135893Humanname
151731459CV1512287single nucleotide variantNM_170707.4(LMNA):c.244G>C (p.Glu82Gln)Charcot-Marie-Tooth disease type 2 [RCV002041238]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002498066]|not specified [RCV003994380]likely pathogenic|uncertain significance1156115162156115162Human3name
152129951CV1539051single nucleotide variantNM_170707.4(LMNA):c.1176C>T (p.Ser392=)Cardiovascular phenotype [RCV004641914]|Charcot-Marie-Tooth disease type 2 [RCV002217931]likely benign1156136232156136232Human1name
152071616CV1549174single nucleotide variantNM_170707.4(LMNA):c.1236G>A (p.Gly412=)Charcot-Marie-Tooth disease type 2 [RCV002091664]likely benign1156136292156136292Human1name
152082324CV1551896single nucleotide variantNM_170707.4(LMNA):c.1902T>C (p.Gly634=)Charcot-Marie-Tooth disease type 2 [RCV002093016]likely benign1156138691156138691Human1name
152170933CV1552474single nucleotide variantNM_170707.4(LMNA):c.1809A>G (p.Ser603=)Cardiovascular phenotype [RCV004990711]|Charcot-Marie-Tooth disease type 2 [RCV002143283]likely benign1156138598156138598Human1name
152160834CV1555185single nucleotide variantNM_170707.4(LMNA):c.1497T>A (p.Ala499=)Charcot-Marie-Tooth disease type 2 [RCV002103762]likely benign1156137121156137121Human1name
152135338CV1571870single nucleotide variantNM_170707.4(LMNA):c.1578G>T (p.Leu526=)Cardiovascular phenotype [RCV002398163]|Charcot-Marie-Tooth disease type 2 [RCV002177348]likely benign1156137202156137202Human1name
152137907CV1580502single nucleotide variantNM_170707.4(LMNA):c.1170C>T (p.Ser390=)Charcot-Marie-Tooth disease type 2 [RCV002156378]likely benign1156136226156136226Human1name
152159467CV1588091single nucleotide variantNM_170707.4(LMNA):c.1116G>A (p.Glu372=)Charcot-Marie-Tooth disease type 2 [RCV002180673]likely benign1156136080156136080Human1name
152122719CV1593978single nucleotide variantNM_170707.4(LMNA):c.1500A>G (p.Ala500=)Charcot-Marie-Tooth disease type 2 [RCV002175791]likely benign1156137124156137124Human1name
152171112CV1612821single nucleotide variantNM_170707.4(LMNA):c.1971C>T (p.Ser657=)Cardiovascular phenotype [RCV002416458]|Charcot-Marie-Tooth disease type 2 [RCV002183388]likely benign1156139082156139082Human1name
152045069CV1614084single nucleotide variantNM_170707.4(LMNA):c.1389C>T (p.Ser463=)Charcot-Marie-Tooth disease type 2 [RCV002166182]likely benign1156136929156136929Human1name
152027219CV1626817single nucleotide variantNM_170707.4(LMNA):c.1005G>A (p.Arg335=)Charcot-Marie-Tooth disease type 2 [RCV002185422]likely benign1156135969156135969Human1name
152085789CV1645265single nucleotide variantNM_170707.4(LMNA):c.1200C>T (p.Gly400=)Charcot-Marie-Tooth disease type 2 [RCV002131410]likely benign1156136256156136256Human1name
152145581CV1661736single nucleotide variantNM_170707.4(LMNA):c.1254G>A (p.Lys418=)Charcot-Marie-Tooth disease type 2 [RCV002157375]likely benign1156136310156136310Human1name
153304346CV1686963single nucleotide variantNM_170707.4(LMNA):c.1179T>C (p.Pro393=)Charcot-Marie-Tooth disease type 2 [RCV005058195]|not provided [RCV002262250]likely benign1156136235156136235Human1name
155643878CV1708188single nucleotide variantNM_170707.4(LMNA):c.145G>T (p.Val49Leu)Congenital muscular dystrophy due to LMNA mutation [RCV002290177]uncertain significance1156115063156115063Human1name
10408191CV172113single nucleotide variantNM_170707.4(LMNA):c.1968G>A (p.Gln656=)Hutchinson-Gilford progeria syndrome, atypical [RCV000190822]|Hutchinson-Gilford syndrome [RCV000192015]pathogenic|not provided1156138757156138757Human1name
155695657CV1772042single nucleotide variantNM_170707.4(LMNA):c.110A>G (p.Glu37Gly)Charcot-Marie-Tooth disease type 2 [RCV002299597]uncertain significance1156115028156115028Human1name
155671743CV1773914single nucleotide variantNM_170707.4(LMNA):c.224C>A (p.Ser75Tyr)Charcot-Marie-Tooth disease type 2 [RCV002297497]uncertain significance1156115142156115142Human1name
155743706CV1806923duplicationNM_170707.4(LMNA):c.561dup (p.Leu188fs)Cardiovascular phenotype [RCV002345004]pathogenic1156134449156134450Humanname
155701075CV1828561single nucleotide variantNM_170707.4(LMNA):c.1749G>C (p.Ser583=)Cardiovascular phenotype [RCV002401542]likely benign1156138538156138538Humanname
155722927CV1831433single nucleotide variantNM_170707.4(LMNA):c.1725C>T (p.Asp575=)Cardiovascular phenotype [RCV002399113]|Charcot-Marie-Tooth disease type 2 [RCV003097178]|Primary dilated cardiomyopathy [RCV004808318]likely benign1156138514156138514Human2name
155737920CV1831777single nucleotide variantNM_170707.4(LMNA):c.1806C>T (p.Gly602=)Cardiovascular phenotype [RCV002410074]likely benign1156138595156138595Humanname
155731609CV1834865single nucleotide variantNM_170707.4(LMNA):c.178C>A (p.Arg60Ser)Cardiovascular phenotype [RCV002407755]uncertain significance1156115096156115096Humanname
155715069CV1834935single nucleotide variantNM_170707.4(LMNA):c.1794A>G (p.Ala598=)Cardiovascular phenotype [RCV002404236]|Charcot-Marie-Tooth disease type 2 [RCV003581862]likely benign1156138583156138583Human1name
155732296CV1835092single nucleotide variantNM_170707.4(LMNA):c.1800C>T (p.Ala600=)Cardiovascular phenotype [RCV002407906]likely benign1156138589156138589Humanname
155732548CV1835391single nucleotide variantNM_170707.4(LMNA):c.1887G>C (p.Val629=)Cardiovascular phenotype [RCV002407951]likely benign1156138676156138676Humanname
155720994CV1835865single nucleotide variantNM_170707.4(LMNA):c.1302A>G (p.Ala434=)Cardiomyopathy [RCV005401972]|Cardiovascular phenotype [RCV002380867]|Charcot-Marie-Tooth disease type 2 [RCV003094938]likely benign1156136358156136358Human3name
155721469CV1835936single nucleotide variantNM_170707.4(LMNA):c.1305C>T (p.Arg435=)Cardiovascular phenotype [RCV002380939]|Charcot-Marie-Tooth disease type 2 [RCV003094946]likely benign1156136361156136361Human1name
155733945CV1842744single nucleotide variantNM_170707.4(LMNA):c.1005G>C (p.Arg335=)Cardiovascular phenotype [RCV002408315]likely benign1156135969156135969Humanname
155739261CV1842947single nucleotide variantNM_170707.4(LMNA):c.1914G>A (p.Gly638=)Cardiovascular phenotype [RCV002410596]likely benign1156138703156138703Humanname
155748461CV1847127single nucleotide variantNM_170707.4(LMNA):c.212G>T (p.Ser71Ile)Cardiovascular phenotype [RCV002417754]|Charcot-Marie-Tooth disease type 2 [RCV003775107]|not provided [RCV004765511]|not specified [RCV003121030]uncertain significance1156115130156115130Human1name
155710940CV1848291single nucleotide variantNM_170707.4(LMNA):c.244G>T (p.Glu82Ter)Cardiovascular phenotype [RCV002430693]pathogenic1156115162156115162Humanname
155691624CV1848813single nucleotide variantNM_170707.4(LMNA):c.1104C>T (p.Ala368=)Cardiovascular phenotype [RCV002426037]|Primary dilated cardiomyopathy [RCV004808343]likely benign1156136068156136068Human1name
155669094CV1848870single nucleotide variantNM_170707.4(LMNA):c.257G>A (p.Gly86Glu)Cardiovascular phenotype [RCV002452831]uncertain significance1156115175156115175Humanname
155803552CV1858114single nucleotide variantNM_170707.4(LMNA):c.213C>A (p.Ser71Arg)not provided [RCV002462423]uncertain significance1156115131156115131Humanname
10046349CV189383single nucleotide variantNM_170707.4(LMNA):c.1017G>A (p.Ala339=)Cardiomyopathy [RCV000771177]|Cardiovascular phenotype [RCV000244350]|Charcot-Marie-Tooth disease [RCV001172634]|Charcot-Marie-Tooth disease type 2 [RCV001086138]|LMNA-related disorder [RCV004535167]|not provided [RCV000172001]|not specified [RCV000276961]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156135981156135981Human4name , alternate_id
156217246CV1903428single nucleotide variantNM_170707.4(LMNA):c.208G>A (p.Val70Ile)Charcot-Marie-Tooth disease type 2 [RCV003084847]uncertain significance1156115126156115126Human1name
10049474CV190479single nucleotide variantNM_170707.4(LMNA):c.188T>C (p.Ile63Thr)not provided [RCV000173378]uncertain significance1156115106156115106Humanname
156159310CV1928507single nucleotide variantNM_170707.4(LMNA):c.115A>G (p.Asn39Asp)Charcot-Marie-Tooth disease type 2 [RCV002664185]|Congenital muscular dystrophy due to LMNA mutation [RCV005254717]likely pathogenic1156115033156115033Human2name
156397247CV1934314single nucleotide variantNM_170707.4(LMNA):c.1239C>A (p.Gly413=)Cardiomyopathy [RCV003533363]|Charcot-Marie-Tooth disease type 2 [RCV002655053]|Primary dilated cardiomyopathy [RCV004009528]likely benign1156136295156136295Human4name
156440578CV1943681single nucleotide variantNM_170707.4(LMNA):c.1257C>T (p.Arg419=)Charcot-Marie-Tooth disease type 2 [RCV003110614]likely benign1156136313156136313Human1name
10053441CV196270single nucleotide variantNM_170707.4(LMNA):c.1551G>A (p.Gln517=)Cardiomyopathy [RCV000771258]|Cardiovascular phenotype [RCV000620476]|Charcot-Marie-Tooth disease [RCV001172636]|Charcot-Marie-Tooth disease type 2 [RCV000231059]|Charcot-Marie-Tooth disease type 2B1 [RCV001093871]|Congenital muscular dystrophy due to LMNA mutatbenign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156137175156137175Human18name
10056827CV196449single nucleotide variantNM_170707.4(LMNA):c.179G>C (p.Arg60Pro)not provided [RCV000182381]|not specified [RCV004526630]pathogenic|likely pathogenic|uncertain significance1156115097156115097Humanname
10056828CV196450single nucleotide variantNM_170707.4(LMNA):c.250G>A (p.Glu84Lys)Cardiovascular phenotype [RCV000621704]|Charcot-Marie-Tooth disease type 2 [RCV003581582]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005042397]|Primary dilated cardiomyopathy [RCV000758164]pathogenic|likely pathogenic|uncertain significance1156115168156115168Human16name
10056804CV196451single nucleotide variantNM_170707.4(LMNA):c.252G>C (p.Glu84Asp)Charcot-Marie-Tooth disease type 2 [RCV001852311]|not provided [RCV000182351]likely pathogenic|uncertain significance1156115170156115170Human1name
10056829CV196453deletionNM_170707.4(LMNA):c.329del (p.Arg110fs)not provided [RCV000182384]pathogenic|likely pathogenic1156115247156115247Humanname
10056832CV196464deletionNM_170707.4(LMNA):c.522del (p.Ala175fs)Charcot-Marie-Tooth disease type 2 [RCV005089908]|Primary dilated cardiomyopathy [RCV003996717]|not provided [RCV000182387]pathogenic1156134411156134411Human2name
10056834CV196472deletionNM_170707.4(LMNA):c.859del (p.Ala287fs)Primary dilated cardiomyopathy [RCV000208368]|not provided [RCV000182389]pathogenic|likely pathogenic1156135231156135231Human1name
10056835CV196474duplicationNM_170707.4(LMNA):c.973dup (p.Asp325fs)not provided [RCV000182390]pathogenic1156135935156135936Humanname
155917978CV1981040single nucleotide variantNM_170707.4(LMNA):c.1965C>G (p.Thr655=)Charcot-Marie-Tooth disease type 2 [RCV002614411]likely benign1156138754156138754Human1name
156219296CV2015419single nucleotide variantNM_170707.4(LMNA):c.193G>A (p.Glu65Lys)Charcot-Marie-Tooth disease type 2 [RCV002700942]|Primary dilated cardiomyopathy [RCV004007552]likely pathogenic|uncertain significance1156115111156115111Human2name
155910915CV2033023single nucleotide variantNM_170707.4(LMNA):c.1119C>T (p.Ile373=)Charcot-Marie-Tooth disease type 2 [RCV002750129]|Primary dilated cardiomyopathy [RCV004007570]likely benign1156136083156136083Human2name
156031113CV2036914single nucleotide variantNM_170707.4(LMNA):c.1062G>A (p.Gln354=)Cardiovascular phenotype [RCV003367881]|Charcot-Marie-Tooth disease type 2 [RCV002781114]likely benign1156136026156136026Human1name
156156973CV2049345deletionNM_170707.4(LMNA):c.707del (p.Glu236fs)Charcot-Marie-Tooth disease type 2 [RCV002801487]pathogenic1156134872156134872Human1name
156119163CV2055224single nucleotide variantNM_170707.4(LMNA):c.194A>T (p.Glu65Val)Charcot-Marie-Tooth disease type 2 [RCV002825231]likely pathogenic1156115112156115112Human1name
156198609CV2062832single nucleotide variantNM_170707.4(LMNA):c.1272T>C (p.Thr424=)Charcot-Marie-Tooth disease type 2 [RCV002828856]|Primary dilated cardiomyopathy [RCV004007630]likely benign1156136328156136328Human2name
155928764CV2067152single nucleotide variantNM_170707.4(LMNA):c.1167G>A (p.Leu389=)Charcot-Marie-Tooth disease type 2 [RCV002838657]likely benign1156136223156136223Human1name
156219888CV2078306single nucleotide variantNM_170707.4(LMNA):c.1413C>A (p.Arg471=)Charcot-Marie-Tooth disease type 2 [RCV002894141]likely benign1156136953156136953Human1name
156220129CV2083861single nucleotide variantNM_170707.4(LMNA):c.1923G>C (p.Leu641=)Charcot-Marie-Tooth disease type 2 [RCV002875836]likely benign1156138712156138712Human1name
156316174CV2104136single nucleotide variantNM_170707.4(LMNA):c.1215C>T (p.His405=)Cardiomyopathy [RCV005403249]|Charcot-Marie-Tooth disease type 2 [RCV002937461]likely benign|uncertain significance1156136271156136271Human3name
155986190CV2108896single nucleotide variantNM_170707.4(LMNA):c.1854C>T (p.Ser618=)Charcot-Marie-Tooth disease type 2 [RCV002947108]|Primary dilated cardiomyopathy [RCV004007695]likely benign1156138643156138643Human2name
156007237CV2126645single nucleotide variantNM_170707.4(LMNA):c.1335G>A (p.Val445=)Charcot-Marie-Tooth disease type 2 [RCV002975459]likely benign1156136391156136391Human1name
156125075CV2144709single nucleotide variantNM_170707.4(LMNA):c.245A>G (p.Glu82Gly)Charcot-Marie-Tooth disease type 2 [RCV003003137]likely pathogenic1156115163156115163Human1name
156042458CV2146938single nucleotide variantNM_170707.4(LMNA):c.117T>A (p.Asn39Lys)Charcot-Marie-Tooth disease type 2 [RCV003019110]pathogenic1156115035156115035Human1name
156285149CV2187102single nucleotide variantNM_170707.4(LMNA):c.1926C>T (p.Val642=)Charcot-Marie-Tooth disease type 2 [RCV003044914]likely benign1156138715156138715Human1name
156371797CV2188773single nucleotide variantNM_170707.4(LMNA):c.250G>T (p.Glu84Ter)Charcot-Marie-Tooth disease type 2 [RCV003066344]pathogenic1156115168156115168Human1name
156140796CV2191812duplicationNM_170707.4(LMNA):c.734dup (p.Gln246fs)Charcot-Marie-Tooth disease type 2 [RCV003056175]pathogenic1156134898156134899Human1name
11040417CV224178single nucleotide variantNM_170707.4(LMNA):c.263C>G (p.Ala88Gly)Primary dilated cardiomyopathy [RCV000208508]uncertain significance1156115181156115181Human1name
11095534CV228270single nucleotide variantNM_170707.4(LMNA):c.230T>C (p.Ile77Thr)Charcot-Marie-Tooth disease type 2 [RCV001344429]|not specified [RCV000222436]uncertain significance1156115148156115148Human1name
11091053CV228271single nucleotide variantNM_170707.4(LMNA):c.232A>G (p.Lys78Glu)Charcot-Marie-Tooth disease type 2 [RCV001853458]|not specified [RCV000216833]uncertain significance1156115150156115150Human1name
11096250CV228275deletionNM_170707.4(LMNA):c.476del (p.Glu159fs)Primary dilated cardiomyopathy [RCV000223332]likely pathogenic1156130736156130736Human1name
11093384CV228279single nucleotide variantNM_170707.4(LMNA):c.1770C>T (p.Thr590=)Cardiomyopathy [RCV001189149]|Cardiovascular phenotype [RCV002399784]|Charcot-Marie-Tooth disease [RCV001173402]|Charcot-Marie-Tooth disease type 2 [RCV000459717]|LMNA-related disorder [RCV004530298]|Primary dilated cardiomyopathy [RCV003997706]|not provided [RClikely benign1156138559156138559Human5name , alternate_id
11091095CV228282single nucleotide variantNM_170707.4(LMNA):c.1731T>C (p.Ala577=)Cardiomyopathy [RCV001187398]|Cardiovascular phenotype [RCV002408924]|Charcot-Marie-Tooth disease type 2 [RCV000653966]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002500695]|Primary dilated cardiomyopathy [RCV003997705]|not specified [RCV000216884]likely benign1156138520156138520Human18name
11345638CV238146single nucleotide variantNM_170707.4(LMNA):c.254T>A (p.Leu85His)Charcot-Marie-Tooth disease type 2 [RCV000225805]likely pathogenic|uncertain significance1156115172156115172Human1name
11349340CV238149single nucleotide variantNM_170707.4(LMNA):c.1155G>A (p.Glu385=)Cardiomyopathy [RCV000772067]|Cardiovascular phenotype [RCV004020898]|Charcot-Marie-Tooth disease type 2 [RCV000230140]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002494669]|Primary dilated cardiomyopathy [RCV003998890]likely benign1156136119156136119Human18name
243062305CV2404698single nucleotide variantNM_170707.4(LMNA):c.104T>A (p.Leu35Gln)Congenital muscular dystrophy due to LMNA mutation [RCV003140259]uncertain significance1156115022156115022Human1name
243058649CV2413110single nucleotide variantNM_170707.4(LMNA):c.148C>G (p.Arg50Gly)Charcot-Marie-Tooth disease type 2 [RCV005099310]|not provided [RCV003134080]likely pathogenic|uncertain significance1156115066156115066Human1name
243058656CV2413113single nucleotide variantNM_170707.4(LMNA):c.107A>C (p.Gln36Pro)not provided [RCV003134082]uncertain significance1156115025156115025Humanname
11523174CV244208single nucleotide variantNM_170707.4(LMNA):c.145G>C (p.Val49Leu)not provided [RCV000235498]uncertain significance1156115063156115063Humanname
11524148CV244209single nucleotide variantNM_170707.4(LMNA):c.161C>T (p.Thr54Met)Cardiomyopathy [RCV001176604]|Charcot-Marie-Tooth disease type 2 [RCV000653891]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002479941]|Primary dilated cardiomyopathy [RCV003998906]|not provided [RCV000237062]uncertain significance1156115079156115079Human6name
11523818CV244211single nucleotide variantNM_170707.4(LMNA):c.224C>T (p.Ser75Phe)Charcot-Marie-Tooth disease type 2 [RCV002518434]|not provided [RCV000236603]likely pathogenic|uncertain significance1156115142156115142Human1name
11524083CV244212single nucleotide variantNM_170707.4(LMNA):c.242A>G (p.Tyr81Cys)Charcot-Marie-Tooth disease type 2 [RCV001351546]|not provided [RCV000237077]likely pathogenic|uncertain significance1156115160156115160Human1name
11546915CV257934single nucleotide variantNM_170707.4(LMNA):c.1890G>C (p.Gly630=)Cardiomyopathy [RCV001180369]|Cardiovascular phenotype [RCV000247083]|Charcot-Marie-Tooth disease type 2 [RCV005090278]|Primary dilated cardiomyopathy [RCV003999009]likely benign1156138679156138679Human4name
11633608CV263984deletionNM_170707.4(LMNA):c.784del (p.Glu262fs)not provided [RCV000353946]pathogenic1156134948156134948Humanname
11641842CV265790single nucleotide variantNM_170707.4(LMNA):c.149G>T (p.Arg50Leu)Charcot-Marie-Tooth disease type 2 [RCV001044757]|not provided [RCV000364250]pathogenic|likely pathogenic|uncertain significance1156115067156115067Human1name
11637019CV267056single nucleotide variantNM_170707.4(LMNA):c.100G>A (p.Asp34Asn)not provided [RCV000278648]uncertain significance1156115018156115018Humanname
11638414CV267407single nucleotide variantNM_170707.4(LMNA):c.1051A>C (p.Arg351=)Cardiomyopathy [RCV001183035]|Cardiovascular phenotype [RCV002392800]|Charcot-Marie-Tooth disease type 2 [RCV001088944]|Primary dilated cardiomyopathy [RCV003995764]|not provided [RCV000587553]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156136015156136015Human4name
11639416CV269785single nucleotide variantNM_170707.4(LMNA):c.139G>A (p.Asp47Asn)Congenital muscular dystrophy due to LMNA mutation [RCV003987491]|not provided [RCV000320512]likely pathogenic|uncertain significance1156115057156115057Human1name
11641770CV270477single nucleotide variantNM_170707.4(LMNA):c.1599C>T (p.Ser533=)Cardiomyopathy [RCV001525716]|Cardiovascular phenotype [RCV002401994]|Charcot-Marie-Tooth disease type 2 [RCV002519217]|Primary dilated cardiomyopathy [RCV003995777]|not provided [RCV000362667]likely benign|uncertain significance1156137223156137223Human4name
11642553CV272902single nucleotide variantNM_170707.4(LMNA):c.1311C>T (p.Ser437=)Cardiomyopathy [RCV001183042]|Cardiovascular phenotype [RCV002379144]|Charcot-Marie-Tooth disease type 2 [RCV001087891]|Primary dilated cardiomyopathy [RCV003995786]|not provided [RCV000726198]|not specified [RCV000377625]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156136367156136367Human4name
11638914CV273237single nucleotide variantNM_170707.4(LMNA):c.263C>T (p.Ala88Val)not provided [RCV000726266]uncertain significance1156115181156115181Humanname
11642365CV274897single nucleotide variantNM_170707.4(LMNA):c.1314G>A (p.Gly438=)Cardiomyopathy [RCV001177599]|Cardiovascular phenotype [RCV002379154]|Charcot-Marie-Tooth disease [RCV001172637]|Charcot-Marie-Tooth disease type 2 [RCV001083806]|not provided [RCV000726528]|not specified [RCV005238859]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156136370156136370Human4name
11647082CV276609single nucleotide variantNM_170707.4(LMNA):c.295C>A (p.Arg99Ser)Charcot-Marie-Tooth disease type 2B1 [RCV000274541]|Congenital muscular dystrophy due to LMNA mutation [RCV000329877]|Dilated cardiomyopathy 1A [RCV000301985]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001096351]|Emery-Dreifuss muscular dystrophlikely risk allele|conflicting interpretations of pathogenicity|uncertain significance1156115213156115213Human13name
11578013CV276614single nucleotide variantNM_170707.4(LMNA):c.1488G>A (p.Thr496=)Cardiomyopathy [RCV000769730]|Cardiovascular phenotype [RCV002392823]|Charcot-Marie-Tooth disease type 2 [RCV000364565]|Charcot-Marie-Tooth disease type 2B1 [RCV001093869]|Congenital muscular dystrophy due to LMNA mutation [RCV000399235]|Dilated cardiomyopathy 1benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156137028156137028Human17name
12741929CV360804single nucleotide variantNM_170707.4(LMNA):c.130G>T (p.Val44Phe)Charcot-Marie-Tooth disease type 2 [RCV001861451]|Congenital muscular dystrophy [RCV000415420]likely pathogenic|uncertain significance1156115048156115048Human3name
12842657CV364525single nucleotide variantNM_170707.4(LMNA):c.1317C>T (p.Arg439=)Cardiomyopathy [RCV001179845]|Cardiovascular phenotype [RCV002379365]|Charcot-Marie-Tooth disease type 2 [RCV000542009]|not specified [RCV000434819]likely benign1156136373156136373Human3name
12837964CV364527single nucleotide variantNM_170707.4(LMNA):c.1857T>C (p.Ser619=)Cardiomyopathy [RCV001180308]|Cardiovascular phenotype [RCV002411298]|Charcot-Marie-Tooth disease [RCV001172633]|Charcot-Marie-Tooth disease type 2 [RCV000653988]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002502474]|LMNA-related disorderlikely benign1156138646156138646Human19name , alternate_id
12837156CV364558single nucleotide variantNM_170707.4(LMNA):c.1209C>T (p.Ser403=)Cardiovascular phenotype [RCV002356611]|Charcot-Marie-Tooth disease type 2 [RCV002522563]|not specified [RCV000424680]likely benign1156136265156136265Human1name
12839013CV364564single nucleotide variantNM_170707.4(LMNA):c.1605G>A (p.Gly535=)Cardiomyopathy [RCV001189155]|Cardiovascular phenotype [RCV002392988]|Charcot-Marie-Tooth disease type 2 [RCV001403643]|not provided [RCV004567910]|not specified [RCV000428038]likely benign1156137229156137229Human3name
12833093CV364565single nucleotide variantNM_170707.4(LMNA):c.1662G>A (p.Glu554=)Cardiomyopathy [RCV003532109]|Cardiovascular phenotype [RCV002402178]|Charcot-Marie-Tooth disease type 2 [RCV002521801]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002502556]|Primary dilated cardiomyopathy [RCV004806301]|not specified [RCV000417851]likely benign1156137707156137707Human18name
12835411CV364567single nucleotide variantNM_170707.4(LMNA):c.1863G>A (p.Thr621=)Cardiomyopathy [RCV001191560]|Cardiovascular phenotype [RCV004992214]|Charcot-Marie-Tooth disease type 2 [RCV001365767]|Primary dilated cardiomyopathy [RCV004000552]|not specified [RCV000421613]likely benign|uncertain significance1156138652156138652Human4name
12884573CV390821single nucleotide variantNM_170707.4(LMNA):c.137T>A (p.Ile46Asn)Charcot-Marie-Tooth disease type 2 [RCV000463697]uncertain significance1156115055156115055Human1name
12889502CV390823single nucleotide variantNM_170707.4(LMNA):c.290A>C (p.Lys97Thr)Cardiomyopathy [RCV001524820]|Cardiovascular phenotype [RCV002436430]|Charcot-Marie-Tooth disease type 2 [RCV000472865]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002489054]|Primary dilated cardiomyopathy [RCV004000799]|not provided [RCV000598315]|not specified [RCV003387849]pathogenic|likely pathogenic|uncertain significance1156115208156115208Human18name
12881372CV390827single nucleotide variantNM_170707.4(LMNA):c.122G>A (p.Arg41His)Charcot-Marie-Tooth disease type 2 [RCV000457713]|not provided [RCV000994129]pathogenic|likely pathogenic1156115040156115040Human1name
12890633CV390828single nucleotide variantNM_170707.4(LMNA):c.1818G>A (p.Gln606=)Cardiovascular phenotype [RCV002411548]|Charcot-Marie-Tooth disease type 2 [RCV001430471]likely benign1156138607156138607Human1name
12888112CV390851single nucleotide variantNM_170707.4(LMNA):c.1071C>T (p.Asp357=)Cardiomyopathy [RCV001180576]|Cardiovascular phenotype [RCV002418463]|Charcot-Marie-Tooth disease type 2 [RCV000470296]|not provided [RCV001696854]|not specified [RCV000517349]likely benign1156136035156136035Human3name
12894542CV404949deletionNM_170707.4(LMNA):c.835del (p.Glu279fs)not provided [RCV000483218]pathogenic|likely pathogenic1156135211156135211Humanname
12905849CV413249single nucleotide variantNM_170707.4(LMNA):c.158A>G (p.Glu53Gly)Charcot-Marie-Tooth disease type 2 [RCV000816556]|not provided [RCV000488077]pathogenic|likely pathogenic1156115076156115076Human1name
12905968CV413251single nucleotide variantNM_170707.4(LMNA):c.1764C>T (p.Cys588=)Cardiovascular phenotype [RCV002404275]|Charcot-Marie-Tooth disease type 2 [RCV002525985]|Primary dilated cardiomyopathy [RCV004806369]|not provided [RCV000488247]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156138553156138553Human2name
13444706CV437672single nucleotide variantNM_170707.4(LMNA):c.234G>T (p.Lys78Asn)Arrhythmogenic right ventricular dysplasia 9 [RCV000511737]likely pathogenic1156115152156115152Human1name
13484237CV440360single nucleotide variantNM_170707.4(LMNA):c.122G>T (p.Arg41Leu)Charcot-Marie-Tooth disease type 2 [RCV000653844]|not specified [RCV000518408]pathogenic|likely pathogenic|uncertain significance1156115040156115040Human1name
13468897CV447238single nucleotide variantNM_170707.4(LMNA):c.1785C>T (p.Ala595=)Cardiomyopathy [RCV000776320]|Cardiovascular phenotype [RCV002413637]|Charcot-Marie-Tooth disease type 2 [RCV000544787]|Primary dilated cardiomyopathy [RCV003999469]|not provided [RCV001702808]likely benign1156138574156138574Human4name
13515243CV491140single nucleotide variantNM_170707.4(LMNA):c.1134G>A (p.Lys378=)not provided [RCV000594039]uncertain significance1156136098156136098Humanname
13515647CV493348single nucleotide variantNM_170707.4(LMNA):c.1047G>A (p.Arg349=)Cardiomyopathy [RCV001524473]|Cardiovascular phenotype [RCV002404613]|Charcot-Marie-Tooth disease type 2 [RCV001406347]|not provided [RCV000594543]likely benign|uncertain significance1156136011156136011Human3name
13521481CV495081duplicationNM_170707.4(LMNA):c.978dup (p.Leu327fs)not provided [RCV000599487]pathogenic1156135941156135942Humanname
13532266CV498125single nucleotide variantNM_170707.4(LMNA):c.1029G>C (p.Arg343=)Cardiovascular phenotype [RCV002385926]|Charcot-Marie-Tooth disease type 2 [RCV000977041]|not specified [RCV000601305]likely benign1156135993156135993Human1name
13531537CV498132single nucleotide variantNM_170707.4(LMNA):c.1680C>T (p.Asp560=)Cardiomyopathy [RCV001181639]|Cardiovascular phenotype [RCV002404647]|Charcot-Marie-Tooth disease type 2 [RCV001400558]|Primary dilated cardiomyopathy [RCV004002522]|not specified [RCV000601082]likely benign1156137725156137725Human4name
13529929CV509109single nucleotide variantNM_170707.4(LMNA):c.109G>A (p.Glu37Lys)Cardiomyopathy [RCV001179396]|Cardiovascular phenotype [RCV000622121]|Charcot-Marie-Tooth disease type 2 [RCV001855271]uncertain significance1156115027156115027Human3name
13529811CV509110single nucleotide variantNM_170707.4(LMNA):c.149G>A (p.Arg50His)Cardiovascular phenotype [RCV000621982]|Charcot-Marie-Tooth disease type 2 [RCV001233815]|Primary dilated cardiomyopathy [RCV004807041]uncertain significance1156115067156115067Human2name
13534717CV509111single nucleotide variantNM_170707.4(LMNA):c.236C>A (p.Ala79Asp)Cardiovascular phenotype [RCV000618926]|Charcot-Marie-Tooth disease type 2 [RCV000653951]|Primary dilated cardiomyopathy [RCV004002671]uncertain significance1156115154156115154Human2name
13530012CV509121single nucleotide variantNM_170707.4(LMNA):c.1185G>T (p.Ser395=)Cardiovascular phenotype [RCV000622231]|Charcot-Marie-Tooth disease type 2 [RCV001488038]likely benign1156136241156136241Human1name
13625755CV515103single nucleotide variantNM_170707.4(LMNA):c.241T>C (p.Tyr81His)Charcot-Marie-Tooth disease type 2 [RCV000653914]|not provided [RCV001289082]likely pathogenic|uncertain significance1156115159156115159Human1name
13625714CV515137single nucleotide variantNM_170707.4(LMNA):c.182T>C (p.Leu61Pro)Charcot-Marie-Tooth disease type 2 [RCV000653850]uncertain significance1156115100156115100Human1name
13625715CV515157single nucleotide variantNM_170707.4(LMNA):c.286G>T (p.Ala96Ser)Cardiomyopathy [RCV001176892]|Cardiovascular phenotype [RCV005405253]|Charcot-Marie-Tooth disease type 2 [RCV000653853]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002477453]|Primary dilated cardiomyopathy [RCV004004111]|not provided [RCV003129973]uncertain significance1156115204156115204Human18name
13625760CV515159duplicationNM_170707.4(LMNA):c.729dup (p.Ala244fs)Charcot-Marie-Tooth disease type 2 [RCV000653919]pathogenic1156134893156134894Human1name
13625811CV515170single nucleotide variantNM_170707.4(LMNA):c.1749G>A (p.Ser583=)Cardiomyopathy [RCV000769732]|Cardiovascular phenotype [RCV002397317]|Charcot-Marie-Tooth disease type 2 [RCV000654027]|Primary dilated cardiomyopathy [RCV004004118]|not specified [RCV001662711]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156138538156138538Human4name
13625788CV515171single nucleotide variantNM_170707.4(LMNA):c.1890G>A (p.Gly630=)Cardiovascular phenotype [RCV002406474]|Charcot-Marie-Tooth disease type 2 [RCV000653961]|Primary dilated cardiomyopathy [RCV004004115]likely benign1156138679156138679Human2name
13625799CV515282single nucleotide variantNM_170707.4(LMNA):c.1173C>T (p.Pro391=)Cardiomyopathy [RCV003532225]|Cardiovascular phenotype [RCV002331267]|Charcot-Marie-Tooth disease type 2 [RCV000654012]likely benign1156136229156136229Human3name
13794581CV552035single nucleotide variantNM_170707.4(LMNA):c.113T>A (p.Leu38His)Congenital muscular dystrophy due to LMNA mutation [RCV000680034]uncertain significance1156115031156115031Human1name
13815278CV558140single nucleotide variantNM_170707.4(LMNA):c.184C>T (p.Arg62Cys)Charcot-Marie-Tooth disease type 2 [RCV000691484]likely pathogenic1156115102156115102Human1name
13810274CV576412single nucleotide variantNM_170707.4(LMNA):c.268A>G (p.Lys90Glu)Charcot-Marie-Tooth disease type 2 [RCV001225324]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002477647]|not provided [RCV000712224]uncertain significance1156115186156115186Human3name
13833852CV585092single nucleotide variantNM_170707.4(LMNA):c.1827A>T (p.Gly609=)Cardiovascular phenotype [RCV002406662]|Charcot-Marie-Tooth disease type 2 [RCV001443776]|not provided [RCV000729234]likely benign|uncertain significance1156138616156138616Human1name
13838336CV589638single nucleotide variantNM_170707.4(LMNA):c.1530C>T (p.Thr510=)Cardiomyopathy [RCV003532253]|Cardiovascular phenotype [RCV002397519]|Charcot-Marie-Tooth disease type 2 [RCV001088060]|not provided [RCV000735004]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156137154156137154Human3name
14692262CV616009single nucleotide variantNM_170707.4(LMNA):c.1659C>T (p.Asp553=)Cardiomyopathy [RCV000773609]|Charcot-Marie-Tooth disease type 2 [RCV001479921]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002493413]|Primary dilated cardiomyopathy [RCV004000026]likely benign1156137704156137704Human6name
14737490CV626904single nucleotide variantNM_170707.4(LMNA):c.116A>T (p.Asn39Ile)Charcot-Marie-Tooth disease type 2 [RCV000804081]likely pathogenic|uncertain significance1156115034156115034Human1name
14735844CV626905single nucleotide variantNM_170707.4(LMNA):c.121C>A (p.Arg41Ser)Charcot-Marie-Tooth disease type 2 [RCV000803355]|not provided [RCV003133634]pathogenic|uncertain significance1156115039156115039Human1name
14728863CV626906single nucleotide variantNM_170707.4(LMNA):c.143G>C (p.Arg48Pro)Charcot-Marie-Tooth disease type 2 [RCV000800232]|not provided [RCV003235401]pathogenic|likely pathogenic1156115061156115061Human1name
14715045CV626907single nucleotide variantNM_170707.4(LMNA):c.143G>T (p.Arg48Leu)Charcot-Marie-Tooth disease type 2 [RCV000811094]likely pathogenic|uncertain significance1156115061156115061Human1name
14738644CV626908single nucleotide variantNM_170707.4(LMNA):c.191C>A (p.Thr64Asn)Cardiovascular phenotype [RCV002408979]|Charcot-Marie-Tooth disease type 2 [RCV000821015]uncertain significance1156115109156115109Human1name
14711895CV626909single nucleotide variantNM_170707.4(LMNA):c.214C>T (p.Arg72Cys)Charcot-Marie-Tooth disease type 2 [RCV000810112]uncertain significance1156115132156115132Human1name
126764047CV653929single nucleotide variantNM_170707.4(LMNA):c.152C>T (p.Ser51Leu)Cardiomyopathy [RCV005402966]|Cardiovascular phenotype [RCV005405328]|Charcot-Marie-Tooth disease type 2 [RCV001341510]uncertain significance1156115070156115070Human3name
14975421CV672372single nucleotide variantNM_170707.4(LMNA):c.296G>C (p.Arg99Pro)Primary familial dilated cardiomyopathy [RCV000845422]likely pathogenic1156115214156115214Human1name
15142047CV685575single nucleotide variantNM_170707.4(LMNA):c.1227A>G (p.Thr409=)Cardiomyopathy [RCV001191849]|Cardiovascular phenotype [RCV003307601]|Charcot-Marie-Tooth disease type 2 [RCV000865471]|Charcot-Marie-Tooth disease type 2B1 [RCV001102352]|Congenital muscular dystrophy due to LMNA mutation [RCV001100369]|Dilated cardiomyopathy 1benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156136283156136283Human16name
15150756CV685576single nucleotide variantNM_170707.4(LMNA):c.1317C>A (p.Arg439=)Cardiomyopathy [RCV001180949]|Cardiovascular phenotype [RCV002381942]|Charcot-Marie-Tooth disease type 2 [RCV001422364]likely benign1156136373156136373Human3name
15122570CV690377single nucleotide variantNM_170707.4(LMNA):c.1407C>A (p.Ile469=)Charcot-Marie-Tooth disease type 2 [RCV001441213]likely benign1156136947156136947Human1name
15124595CV690378single nucleotide variantNM_170707.4(LMNA):c.1755C>T (p.Thr585=)Cardiomyopathy [RCV001176549]|Cardiovascular phenotype [RCV002399951]|Charcot-Marie-Tooth disease type 2 [RCV000874798]|Primary dilated cardiomyopathy [RCV004003098]|not provided [RCV001540572]likely benign1156138544156138544Human4name
15133311CV745735single nucleotide variantNM_170707.4(LMNA):c.1374C>T (p.Ser458=)Charcot-Marie-Tooth disease type 2 [RCV001493966]likely benign1156136430156136430Human1name
15166803CV745736single nucleotide variantNM_170707.4(LMNA):c.1701C>T (p.Gly567=)Charcot-Marie-Tooth disease type 2 [RCV001473294]likely benign1156138490156138490Human1name
15140076CV745737single nucleotide variantNM_170707.4(LMNA):c.1767G>C (p.Gly589=)not provided [RCV000921619]likely benign1156138556156138556Humanname
15165186CV745738single nucleotide variantNM_170707.4(LMNA):c.1941C>T (p.Leu647=)Cardiomyopathy [RCV001805932]|Cardiovascular phenotype [RCV003363010]|Charcot-Marie-Tooth disease type 2 [RCV002066044]|LMNA-related disorder [RCV004533570]likely benign1156138730156138730Human3name , alternate_id
15177020CV761251single nucleotide variantNM_170707.4(LMNA):c.1161A>G (p.Leu387=)not provided [RCV000929056]likely benign1156136217156136217Humanname
15195655CV761252single nucleotide variantNM_170707.4(LMNA):c.1261C>T (p.Leu421=)Cardiomyopathy [RCV005401672]|Charcot-Marie-Tooth disease [RCV001173410]|Charcot-Marie-Tooth disease type 2 [RCV001493513]|Primary dilated cardiomyopathy [RCV004807228]likely benign1156136317156136317Human5name
15172803CV761253single nucleotide variantNM_170707.4(LMNA):c.1383C>T (p.Asp461=)Charcot-Marie-Tooth disease type 2 [RCV001455182]likely benign1156136923156136923Human1name
15189534CV761254single nucleotide variantNM_170707.4(LMNA):c.1413C>G (p.Arg471=)Cardiomyopathy [RCV001186943]|Charcot-Marie-Tooth disease type 2 [RCV001405617]|Primary dilated cardiomyopathy [RCV004003244]|not provided [RCV000932267]likely benign1156136953156136953Human4name
15202654CV761255single nucleotide variantNM_170707.4(LMNA):c.1899G>A (p.Gly633=)Charcot-Marie-Tooth disease type 2 [RCV001462654]likely benign1156138688156138688Human1name
15118733CV780346single nucleotide variantNM_170707.4(LMNA):c.1011G>C (p.Leu337=)Charcot-Marie-Tooth disease type 2 [RCV000979001]likely benign1156135975156135975Human1name
21071842CV794448single nucleotide variantNM_170707.4(LMNA):c.122G>C (p.Arg41Pro)not provided [RCV000994130]likely pathogenic1156115040156115040Humanname
21071848CV794449single nucleotide variantNM_170707.4(LMNA):c.1146C>A (p.Gly382=)not provided [RCV000994132]likely pathogenic1156136110156136110Humanname
21071857CV794451single nucleotide variantNM_170707.4(LMNA):c.1182C>T (p.Thr394=)Cardiovascular phenotype [RCV002337050]|Charcot-Marie-Tooth disease type 2 [RCV001439975]|not provided [RCV000994134]likely benign|uncertain significance1156136238156136238Human1name
26918914CV822790single nucleotide variantNM_170707.4(LMNA):c.136A>C (p.Ile46Leu)Charcot-Marie-Tooth disease type 2 [RCV001058402]uncertain significance1156115054156115054Human1name
28893335CV903711single nucleotide variantNM_170707.4(LMNA):c.230T>A (p.Ile77Asn)Cardiomyopathy [RCV001170449]uncertain significance1156115148156115148Human2name
34891919CV905108single nucleotide variantNM_170707.4(LMNA):c.1092C>T (p.Asp364=)Cardiomyopathy [RCV001183172]|Cardiovascular phenotype [RCV005348336]|Charcot-Marie-Tooth disease [RCV001173399]|Charcot-Marie-Tooth disease type 2 [RCV002067846]|Primary dilated cardiomyopathy [RCV004000281]likely benign1156136056156136056Human5name
34890496CV906399single nucleotide variantNM_170707.4(LMNA):c.141C>A (p.Asp47Glu)Cardiomyopathy [RCV001182106]uncertain significance1156115059156115059Human2name
34894419CV906403single nucleotide variantNM_170707.4(LMNA):c.206T>C (p.Val69Ala)Cardiomyopathy [RCV001177272]uncertain significance1156115124156115124Human2name
34897752CV906404single nucleotide variantNM_170707.4(LMNA):c.215G>A (p.Arg72His)Cardiomyopathy [RCV001186710]|Cardiovascular phenotype [RCV005405531]likely pathogenic|uncertain significance1156115133156115133Human2name
34897483CV906429single nucleotide variantNM_170707.4(LMNA):c.1077C>T (p.Tyr359=)Cardiomyopathy [RCV001186500]|Charcot-Marie-Tooth disease type 2 [RCV001405135]likely benign1156136041156136041Human3name
34898368CV906432single nucleotide variantNM_170707.4(LMNA):c.1230G>A (p.Gln410=)Cardiomyopathy [RCV001187184]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005040002]|Primary dilated cardiomyopathy [RCV004008679]likely benign|uncertain significance1156136286156136286Human5name
34893147CV906434single nucleotide variantNM_170707.4(LMNA):c.1236G>C (p.Gly412=)Cardiomyopathy [RCV001176314]|Cardiovascular phenotype [RCV002365839]|Charcot-Marie-Tooth disease type 2 [RCV001446980]|Primary dilated cardiomyopathy [RCV004006285]likely benign1156136292156136292Human4name
34897086CV906442single nucleotide variantNM_170707.4(LMNA):c.1407C>T (p.Ile469=)Cardiomyopathy [RCV001186168]likely benign1156136947156136947Human2name
34897298CV906443single nucleotide variantNM_170707.4(LMNA):c.1482G>A (p.Val494=)Cardiomyopathy [RCV001186353]likely benign1156137022156137022Human2name
34896549CV906445single nucleotide variantNM_170707.4(LMNA):c.1536G>A (p.Leu512=)Cardiomyopathy [RCV001178505]|Cardiovascular phenotype [RCV002402533]|Charcot-Marie-Tooth disease type 2 [RCV002555487]|Primary dilated cardiomyopathy [RCV004006485]likely benign1156137160156137160Human4name
34894956CV906452single nucleotide variantNM_170707.4(LMNA):c.1701C>A (p.Gly567=)Cardiomyopathy [RCV001185040]likely benign1156138490156138490Human2name
34896903CV906455single nucleotide variantNM_170707.4(LMNA):c.1746C>T (p.Arg582=)Cardiomyopathy [RCV001186008]|Charcot-Marie-Tooth disease type 2 [RCV001455621]likely benign1156138535156138535Human3name
34897461CV906457single nucleotide variantNM_170707.4(LMNA):c.1827A>G (p.Gly609=)Cardiomyopathy [RCV001179184]likely benign1156138616156138616Human2name
34891600CV906458single nucleotide variantNM_170707.4(LMNA):c.1830C>T (p.Pro610=)Cardiomyopathy [RCV001182597]likely benign1156138619156138619Human2name
34897389CV906465single nucleotide variantNM_170707.4(LMNA):c.1947C>A (p.Gly649=)Cardiomyopathy [RCV001186425]likely benign1156138736156138736Human2name
38463012CV918566single nucleotide variantNM_170707.4(LMNA):c.1488G>C (p.Thr496=)Dilated cardiomyopathy 1A [RCV001198820]uncertain significance1156137028156137028Human2name
38476043CV930061single nucleotide variantNM_170707.4(LMNA):c.115A>C (p.Asn39His)Charcot-Marie-Tooth disease type 2 [RCV001204509]likely pathogenic|uncertain significance1156115033156115033Human1name
38464591CV952090single nucleotide variantNM_170707.4(LMNA):c.185G>T (p.Arg62Leu)Charcot-Marie-Tooth disease type 2 [RCV001247423]likely pathogenic|uncertain significance1156115103156115103Human1name
126767627CV1022660single nucleotide variantNM_170707.4(LMNA):c.470C>T (p.Thr157Met)Cardiovascular phenotype [RCV002341704]|Charcot-Marie-Tooth disease type 2 [RCV001342901]|LMNA-related disorder [RCV004734130]uncertain significance1156130730156130730Human1alternate_id
126733026CV1022666single nucleotide variantNM_170707.4(LMNA):c.1459T>C (p.Phe487Leu)Charcot-Marie-Tooth disease type 2 [RCV001349706]|LMNA-related disorder [RCV004727177]|not provided [RCV003238864]uncertain significance1156136999156136999Human1alternate_id
9687838CV172489single nucleotide variantNM_170707.4(LMNA):c.1634G>A (p.Arg545His)Autosomal semi-dominant severe lipodystrophic laminopathy [RCV003993830]|Cardiomyopathy [RCV000771819]|Cardiovascular phenotype [RCV000621850]|Charcot-Marie-Tooth disease type 2 [RCV000468904]|Charcot-Marie-Tooth disease type 2B1 [RCV001101060]|Congenital muscular dystrophy due to LMNApathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156137679156137679Human34alternate_id
10056809CV196461single nucleotide variantNM_170707.4(LMNA):c.398G>A (p.Arg133Gln)Cardiomyopathy [RCV001191911]|Cardiovascular phenotype [RCV002372114]|Charcot-Marie-Tooth disease type 2 [RCV000204542]|Charcot-Marie-Tooth disease type 2B1 [RCV001098187]|Congenital muscular dystrophy due to LMNA mutation [RCV001098188]|Dilated cardiomyopathy 1pathogenic|likely pathogenic|uncertain significance1156130658156130658Human20alternate_id
10056818CV196479single nucleotide variantNM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)Cardiomyopathy [RCV001181813]|Cardiovascular phenotype [RCV002381591]|Charcot-Marie-Tooth disease type 2 [RCV000653931]|Dilated cardiomyopathy 1A [RCV002463440]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002492808]|LMNA-related disorder [likely pathogenic|uncertain significance1156136335156136335Human18alternate_id
10056838CV196485indelNM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser)Cardiomyopathy [RCV001191556]|Cardiovascular phenotype [RCV000249124]|Charcot-Marie-Tooth disease type 2 [RCV001300467]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV003333038]|LMNA-related disorder [RCV004528958]|not provided [RCV000725840]pathogenic|likely benign|uncertain significance1156137756156137757Humanalternate_id
156010124CV2045475single nucleotide variantNM_170707.4(LMNA):c.1900G>T (p.Gly634Cys)Charcot-Marie-Tooth disease type 2 [RCV002780094]|LMNA-related disorder [RCV004725370]uncertain significance1156138689156138689Human1alternate_id
11638010CV272513single nucleotide variantNM_170707.4(LMNA):c.1919A>G (p.Asn640Ser)Charcot-Marie-Tooth disease type 2 [RCV000533234]|Familial partial lipodystrophy, Dunnigan type [RCV003335301]|LMNA-related disorder [RCV004734939]|Primary dilated cardiomyopathy [RCV003995784]|not provided [RCV000658526]likely benign|uncertain significance1156138708156138708Human4alternate_id
401931700CV2801582single nucleotide variantNM_170707.4(LMNA):c.631T>G (p.Tyr211Asp)LMNA-related disorder [RCV004529272]uncertain significance1156134520156134520Humantrait , alternate_id
8564268CV29525single nucleotide variantNM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)Cardiomyopathy [RCV001179839]|Cardiovascular phenotype [RCV002390111]|Charcot-Marie-Tooth disease type 2 [RCV000459624]|Dilated cardiomyopathy 1A [RCV001822996]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV000763258]|Emery-Dreifuss muscular dystrophy 3, autosomal recessive [RCVpathogenic|uncertain significance|no classifications from unflagged records|not provided1156136985156136985Human20alternate_id
8564271CV29528single nucleotide variantNM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)Cardiovascular phenotype [RCV002390112]|Charcot-Marie-Tooth disease [RCV001174239]|Charcot-Marie-Tooth disease type 2 [RCV001235764]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002482872]|Familial partial lipodystrophy [RCV001248961]|Familial partial lipodystrophy, Dunnigan typathogenic|likely pathogenic|not provided1156136984156136984Human17alternate_id
8564275CV29533single nucleotide variantNM_170707.4(LMNA):c.1745G>A (p.Arg582His)Cardiomyopathy [RCV001804734]|Cardiovascular phenotype [RCV002399327]|Charcot-Marie-Tooth disease type 2 [RCV001068657]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV004795416]|Familial partial lipodystrophy, Dunnigan type [RCV000015585]|LMNApathogenic|likely pathogenic|uncertain significance|not provided1156138534156138534Human18alternate_id
8564305CV29563single nucleotide variantNM_170707.4(LMNA):c.745C>T (p.Arg249Trp)Charcot-Marie-Tooth disease type 2 [RCV000814531]|Congenital muscular dystrophy due to LMNA mutation [RCV000015621]|LMNA-related disorder [RCV005229797]|not provided [RCV000057452]pathogenic|likely pathogenic|not provided1156134910156134910Human2alternate_id
8564308CV29566single nucleotide variantNM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)Cardiomyopathy [RCV000771143]|Cardiovascular phenotype [RCV000245284]|Charcot-Marie-Tooth disease [RCV000144868]|Charcot-Marie-Tooth disease type 2 [RCV001084244]|Dilated cardiomyopathy 1A [RCV000755679]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV003224100]|Familial partial llikely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided1156138719156138719Human20alternate_id
408375987CV3506750single nucleotide variantNM_170707.4(LMNA):c.454C>T (p.Leu152Phe)LMNA-related disorder [RCV004726488]uncertain significance1156130714156130714Humantrait , alternate_id
408369052CV3507873single nucleotide variantNM_170707.4(LMNA):c.1325T>A (p.Val442Glu)LMNA-related disorder [RCV004736521]likely pathogenic1156136381156136381Humantrait , alternate_id
12892167CV390809single nucleotide variantNM_170707.4(LMNA):c.352G>T (p.Ala118Ser)Charcot-Marie-Tooth disease type 2 [RCV000459194]|LMNA-related disorder [RCV004735540]uncertain significance1156115270156115270Human1alternate_id
616933308CV4011407single nucleotide variantNM_170707.4(LMNA):c.1398T>G (p.Asn466Lys)LMNA-related disorder [RCV005407488]pathogenic1156136938156136938Humantrait , alternate_id
8602919CV45135single nucleotide variantNM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)Arrhythmogenic right ventricular cardiomyopathy [RCV000852407]|Cardiomyopathy [RCV003149579]|Cardiovascular phenotype [RCV000620788]|Charcot-Marie-Tooth disease type 2 [RCV000546102]|Dilated cardiomyopathy 1A [RCV001196390]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002477025pathogenic|likely pathogenic1156135967156135967Human23alternate_id
13529871CV509124indelNM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)Cardiomyopathy [RCV001185275]|Cardiovascular phenotype [RCV000622044]|Charcot-Marie-Tooth disease type 2 [RCV000822504]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002498997]|LMNA-related disorder [RCV004735679]|not provided [RCV005429259]uncertain significance1156138662156138663Humanalternate_id
8610912CV57211single nucleotide variantNM_170707.4(LMNA):c.1656C>T (p.Asp552=)Cardiomyopathy [RCV001180815]|Cardiovascular phenotype [RCV000619881]|Charcot-Marie-Tooth disease type 2 [RCV001088399]|LMNA-related disorder [RCV004734589]|Primary dilated cardiomyopathy [RCV003996457]|not provided [RCV000726458]|not specified [RCV000041326]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1156137701156137701Human4alternate_id
8610917CV57216single nucleotide variantNM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)Cardiomyopathy [RCV000771799]|Cardiovascular phenotype [RCV000617798]|Charcot-Marie-Tooth disease type 2 [RCV001088263]|Congenital muscular dystrophy due to LMNA mutation [RCV004820827]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000148601]|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided1156138593156138593Human6alternate_id
8610918CV57217single nucleotide variantNM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)Cardiomyopathy [RCV001804765]|Cardiovascular phenotype [RCV003162352]|Charcot-Marie-Tooth disease type 2 [RCV001852840]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002483028]|LMNA-related disorder [RCV004528230]|Primary dilated cardiomyopauncertain significance1156138614156138614Human18alternate_id
8610921CV57220single nucleotide variantNM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)Cardiomyopathy [RCV001188113]|Cardiovascular phenotype [RCV005403744]|Charcot-Marie-Tooth disease type 2 [RCV001084443]|LMNA-related disorder [RCV004541209]|not provided [RCV000725381]|not specified [RCV000041338]likely benign|conflicting interpretations of pathogenicity|uncertain significance1156138701156138701Human3alternate_id
8573365CV57234single nucleotide variantNM_170707.4(LMNA):c.607G>A (p.Glu203Lys)Cardiovascular phenotype [RCV000618699]|Charcot-Marie-Tooth disease type 2 [RCV000653912]|Dilated cardiomyopathy 1A [RCV000055999]|Dilated cardiomyopathy 1A [RCV001824588]|LMNA-related disorder [RCV004724769]|Primary dilated cardiomyopathy [RCV000211790]|not propathogenic|likely pathogenic|not provided1156134496156134496Human13alternate_id
8610954CV57256single nucleotide variantNM_170707.4(LMNA):c.895A>G (p.Ile299Val)Cardiomyopathy [RCV000777745]|Cardiovascular phenotype [RCV000619864]|Charcot-Marie-Tooth disease [RCV001174244]|Charcot-Marie-Tooth disease type 2 [RCV001086902]|Familial partial lipodystrophy, Dunnigan type [RCV000148604]|LMNA-related disorder [RCV004734590]|Plikely benign|conflicting interpretations of pathogenicity|uncertain significance1156135271156135271Human7alternate_id
8610955CV57257single nucleotide variantNM_170707.4(LMNA):c.949G>A (p.Glu317Lys)Cardiomyopathy [RCV000769726]|Cardiovascular phenotype [RCV002371856]|Charcot-Marie-Tooth disease type 2 [RCV000560270]|Dilated cardiomyopathy 1A [RCV001775075]|LMNA-related disorder [RCV004541210]|Primary dilated cardiomyopathy [RCV000041379]|Primary familial dpathogenic|likely pathogenic|not provided1156135913156135913Human7alternate_id
8610960CV57262single nucleotide variantNM_170707.4(LMNA):c.992G>A (p.Arg331Gln)Cardiomyopathy [RCV000769727]|Cardiovascular phenotype [RCV002381325]|Charcot-Marie-Tooth disease type 2 [RCV001071970]|Dilated cardiomyopathy 1A [RCV001265547]|LMNA-related disorder [RCV003335073]|Primary dilated cardiomyopathy [RCV000593819]|Primary familial dpathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance1156135956156135956Human7alternate_id
8622488CV77508single nucleotide variantNM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)Cardiomyopathy [RCV001176130]|Cardiovascular phenotype [RCV004992003]|Charcot-Marie-Tooth disease [RCV000790249]|Charcot-Marie-Tooth disease type 2 [RCV001854169]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002504958]|LMNA-related disorderuncertain significance|not provided1156137756156137756Human19alternate_id
8622666CV77688single nucleotide variantNM_170707.4(LMNA):c.116A>G (p.Asn39Ser)Charcot-Marie-Tooth disease type 2 [RCV000557302]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV005252725]|LMNA-related disorder [RCV004545742]|not provided [RCV000057252]pathogenic|not provided1156115034156115034Human3alternate_id
8622679CV77701single nucleotide variantNM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)Cardiomyopathy [RCV001182564]|Cardiovascular phenotype [RCV002381365]|Charcot-Marie-Tooth disease type 2 [RCV001225469]|Charcot-Marie-Tooth disease type 2B1 [RCV004786333]|Familial partial lipodystrophy, Dunnigan type [RCV003326119]|LMNA-related disorder [RCV004likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided1156136371156136371Human7alternate_id
8622734CV77757single nucleotide variantNM_170707.4(LMNA):c.1622G>A (p.Arg541His)Cardiovascular phenotype [RCV000246865]|Charcot-Marie-Tooth disease type 2 [RCV000230467]|Congenital muscular dystrophy [RCV004018989]|Dilated cardiomyopathy 1A [RCV001262710]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV005252726]|Hutchinson-Gilford syndrome [RCV001836636]|LMNApathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided1156137667156137667Human9alternate_id
8622781CV77805single nucleotide variantNM_170707.4(LMNA):c.568C>T (p.Arg190Trp)Cardiovascular phenotype [RCV000619878]|Charcot-Marie-Tooth disease type 2 [RCV000535082]|Dilated cardiomyopathy 1S [RCV000491585]|LMNA-related disorder [RCV004528262]|Primary dilated cardiomyopathy [RCV003996512]|not provided [RCV000057419]pathogenic|not provided1156134457156134457Human3alternate_id
41406917CV982360single nucleotide variantNM_170707.4(LMNA):c.832G>A (p.Ala278Thr)Cardiomyopathy [RCV005403014]|Charcot-Marie-Tooth disease type 2 [RCV001863151]|LMNA-related disorder [RCV004528448]|not provided [RCV001289083]pathogenic|likely pathogenic|uncertain significance1156135208156135208Human3alternate_id
150513313CV1228967deletionNM_170707.4(LMNA):c.357-3588_357-3580delnot provided [RCV001637809]benign1156127024156127032Humanname
38460210CV941503single nucleotide variantNM_170707.4(LMNA):c.1767G>T (p.Gly589=)Charcot-Marie-Tooth disease type 2 [RCV001229302]|Primary dilated cardiomyopathy [RCV004807476]likely benign|uncertain significance1156138556156138556Human2name