| 10398662 | CV204464 | single nucleotide variant | LMNA, ARG225GLN | Emery-Dreifuss muscular dystrophy 3, autosomal recessive [RCV000190400]|Emery-dreifuss muscular dystrophy 3, autosomal recessive [RCV000190400] | pathogenic | | | | Human | | name |
| 10401605 | CV205355 | variation | LMNA, GLN656GLN | Hutchinson-Gilford progeria syndrome, atypical [RCV000190822] | pathogenic | | | | Human | | name |
| 14352091 | CV608839 | fusion | LMNA-NTRK1 fusion | Congenital fibrosarcoma [RCV000754610] | pathogenic | | | | Human | | name |
| 8564278 | CV29536 | single nucleotide variant | LMNA, IVS9, G-C, +5 | Limb-girdle muscular dystrophy, type 1B [RCV000015589] | pathogenic | | | | Human | | name |
| 8564286 | CV29544 | insertion | LMNA, 1-BP INS, 28A | Dilated cardiomyopathy 1A [RCV000015599] | pathogenic | | | | Human | 1 | name , alternate_id |
| 8564296 | CV29554 | single nucleotide variant | LMNA, IVS8, G-C, +5 | Lipodystrophy, familial partial, type 2 [RCV000015610] | pathogenic | | | | Human | | name |
| 8564293 | CV29551 | single nucleotide variant | LMNA, IVS11, G-A, +1 | Lethal tight skin contracture syndrome [RCV000015606]|Hutchinson-Gilford syndrome [RCV000015607] | pathogenic | | | | Human | | name |
| 10401606 | CV205356 | single nucleotide variant | LMNA, IVS11DS, G-A, +5 | Hutchinson-Gilford progeria syndrome, atypical [RCV000190823] | pathogenic | | | | Human | | name |
| 8564277 | CV29535 | deletion | LMNA, 3-BP DEL, EXON 3 | Limb-girdle muscular dystrophy, type 1B [RCV000015588] | pathogenic | | | | Human | | name |
| 8564302 | CV29560 | single nucleotide variant | LMNA, IVS9AS, T-G, -12 | Heart-hand syndrome, Slovenian type [RCV000015618] | pathogenic | | | | Human | | name |
| 11639762 | CV270508 | single nucleotide variant | NM_170707.4(LMNA):c.-1C>A | Cardiomyopathy [RCV001184771]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002494855]|not provided [RCV000725824] | uncertain significance | 1 | 156114918 | 156114918 | Human | 4 | name |
| 11644289 | CV277447 | single nucleotide variant | NM_170707.4(LMNA):c.-5C>A | Charcot-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]|Hut chinson-Gilford syndrome [RCV000287946]|Lethal tight skin contracture syndrome [RCV000319307]|Limb-girdle muscular dystrophy, recessive [RCV000391573]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000312458]|Mandibuloacral dysplasia [RCV000404736] | uncertain significance | 1 | 156114914 | 156114914 | Human | 9 | name |
| 405738578 | CV3228815 | single nucleotide variant | NM_170707.4(LMNA):c.-6C>T | Primary dilated cardiomyopathy [RCV004014736] | uncertain significance | 1 | 156114913 | 156114913 | Human | 1 | name |
| 405722477 | CV3231941 | single nucleotide variant | NM_170707.4(LMNA):c.-5C>G | Primary dilated cardiomyopathy [RCV004012963] | uncertain significance | 1 | 156114914 | 156114914 | Human | 1 | name |
| 8610892 | CV57191 | single nucleotide variant | NM_170707.4(LMNA):c.*6G>A | Primary dilated cardiomyopathy [RCV003996452]|not specified [RCV000041304] | uncertain significance | 1 | 156139112 | 156139112 | Human | 1 | name |
| 34896017 | CV906396 | single nucleotide variant | NM_170707.4(LMNA):c.-4G>A | Cardiomyopathy [RCV001185591] | uncertain significance | 1 | 156114915 | 156114915 | Human | 2 | name |
| 34901293 | CV906466 | single nucleotide variant | NM_170707.4(LMNA):c.*5G>A | Cardiomyopathy [RCV001191474] | uncertain significance | 1 | 156139111 | 156139111 | Human | 2 | name |
| 150446981 | CV1261450 | single nucleotide variant | NM_170707.4(LMNA):c.-98G>C | not provided [RCV001680124] | benign | 1 | 156114821 | 156114821 | Human | | name |
| 11644792 | CV276601 | single nucleotide variant | NM_170707.4(LMNA):c.-62C>A | Charcot-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]|Hut chinson-Gilford syndrome [RCV000279605]|Lethal tight skin contracture syndrome [RCV000277124]|Limb-girdle muscular dystrophy, recessive [RCV000307684]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000283250]|Mandibuloacral dysplasia [RCV000371719] | uncertain significance | 1 | 156114857 | 156114857 | Human | 9 | name |
| 11585687 | CV277446 | single nucleotide variant | NM_170707.4(LMNA):c.-88G>T | Charcot-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 dystroph y [RCV000335300]|Familial partial lipodystrophy, Dunnigan type [RCV000365735]|Hutchinson-Gilford syndrome [RCV000282647]|Lethal tight skin contracture syndrome [RCV000406475]|Limb-girdle muscular dystrophy, recessive [RCV000374360]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000304900]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000391862]|Maturity onset diabetes mellitus in young [RCV002465611]|not provided [RCV001651330] | benign|likely benign | 1 | 156114831 | 156114831 | Human | 13 | name |
| 405063055 | CV2934264 | single nucleotide variant | NM_170707.4(LMNA):c.-14C>T | Cardiomyopathy [RCV003532548] | uncertain significance | 1 | 156114905 | 156114905 | Human | 2 | name |
| 405736941 | CV3228610 | single nucleotide variant | NM_170707.4(LMNA):c.-11A>G | Primary dilated cardiomyopathy [RCV004014529] | uncertain significance | 1 | 156114908 | 156114908 | Human | 1 | name |
| 407502099 | CV3495648 | single nucleotide variant | NM_170707.4(LMNA):c.-17C>A | not provided [RCV004697488] | uncertain significance | 1 | 156114902 | 156114902 | Human | | name |
| 13532255 | CV496593 | single nucleotide variant | NM_170707.4(LMNA):c.-12A>T | not specified [RCV000606737] | uncertain significance | 1 | 156114907 | 156114907 | Human | | name |
| 13539212 | CV498068 | single nucleotide variant | NM_170707.4(LMNA):c.-28C>T | not specified [RCV000612961] | likely benign | 1 | 156114891 | 156114891 | Human | | name |
| 13529513 | CV498119 | single nucleotide variant | NM_170707.4(LMNA):c.-42C>T | not provided [RCV001698440] | likely benign | 1 | 156114877 | 156114877 | Human | | name |
| 8622630 | CV77652 | single nucleotide variant | NM_170707.4(LMNA):c.*27G>A | not provided [RCV000057211] | not provided | 1 | 156139133 | 156139133 | Human | | name |
| 8622631 | CV77653 | single nucleotide variant | NM_170707.4(LMNA):c.*79G>C | not provided [RCV000057212]|not specified [RCV001698955] | benign|not provided | 1 | 156139185 | 156139185 | Human | | name |
| 28879523 | CV862420 | single nucleotide variant | NM_170707.4(LMNA):c.-44T>A | Charcot-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 dystroph y [RCV001098000]|Familial partial lipodystrophy, Dunnigan type [RCV001096255]|Hutchinson-Gilford syndrome [RCV001096254]|Lethal tight skin contracture syndrome [RCV001096248]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001097999]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001096249] | uncertain significance | 1 | 156114875 | 156114875 | Human | 11 | name |
| 126732616 | CV1000153 | single nucleotide variant | NM_170707.4(LMNA):c.*710G>A | not provided [RCV001310874] | uncertain significance | 1 | 156139816 | 156139816 | Human | | name |
| 150406006 | CV1189497 | single nucleotide variant | NM_170707.4(LMNA):c.*130T>G | not provided [RCV001564546] | likely benign | 1 | 156139236 | 156139236 | Human | | name |
| 150469934 | CV1209232 | single nucleotide variant | NM_170707.4(LMNA):c.*639G>A | not provided [RCV001588343] | likely benign | 1 | 156139745 | 156139745 | Human | | name |
| 150445542 | CV1215512 | single nucleotide variant | NM_170707.4(LMNA):c.*365C>T | not provided [RCV001611105] | benign | 1 | 156139471 | 156139471 | Human | | name |
| 150443763 | CV1232921 | single nucleotide variant | NM_170707.4(LMNA):c.*393T>C | not provided [RCV001645593] | benign | 1 | 156139499 | 156139499 | Human | | name |
| 150431632 | CV1234223 | single nucleotide variant | NM_170707.4(LMNA):c.-148C>A | not provided [RCV001641876] | benign | 1 | 156114771 | 156114771 | Human | | name |
| 150468159 | CV1257014 | duplication | NM_170707.4(LMNA):c.*211dup | not provided [RCV001670660] | benign | 1 | 156139303 | 156139304 | Human | | name |
| 150493888 | CV1257647 | deletion | NM_170707.4(LMNA):c.*211del | not provided [RCV001675320] | benign | 1 | 156139304 | 156139304 | Human | | name |
| 150491985 | CV1267866 | single nucleotide variant | NM_170707.4(LMNA):c.*192A>C | not provided [RCV001687892] | benign | 1 | 156139298 | 156139298 | Human | | name |
| 150471705 | CV1281051 | single nucleotide variant | NM_170707.4(LMNA):c.-147C>A | not provided [RCV001713240] | benign | 1 | 156114772 | 156114772 | Human | | name |
| 10046793 | CV190106 | single nucleotide variant | NM_170707.4(LMNA):c.*747G>A | not provided [RCV004714526]|not specified [RCV000126635] | benign | 1 | 156139853 | 156139853 | Human | | name |
| 329350417 | CV2421684 | single nucleotide variant | NM_170707.4(LMNA):c.*663G>C | not provided [RCV003159387] | uncertain significance | 1 | 156139769 | 156139769 | Human | | name |
| 11523558 | CV244240 | single nucleotide variant | NM_170707.4(LMNA):c.*672T>C | not specified [RCV000236119] | uncertain significance | 1 | 156139778 | 156139778 | Human | | name |
| 11644568 | CV276591 | single nucleotide variant | NM_170707.4(LMNA):c.-138T>C | Charcot-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 dystroph y [RCV000323133]|Familial partial lipodystrophy, Dunnigan type [RCV000393952]|Hutchinson-Gilford syndrome [RCV000260842]|Lethal tight skin contracture syndrome [RCV000307448]|Limb-girdle muscular dystrophy, recessive [RCV000403626]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000261874]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000369173] | uncertain significance | 1 | 156114781 | 156114781 | Human | 12 | name |
| 11644660 | CV276876 | single nucleotide variant | NM_005572.3(LMNA):c.-226C>T | Charcot-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 dystroph y [RCV000402614]|Familial partial lipodystrophy, Dunnigan type [RCV000274059]|Hutchinson-Gilford syndrome [RCV000316510]|Lethal tight skin contracture syndrome [RCV000344641]|Limb-girdle muscular dystrophy, recessive [RCV000313835]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000368648]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000355952] | uncertain significance | 1 | 156114693 | 156114693 | Human | 12 | name |
| 11649849 | CV277430 | single nucleotide variant | NM_005572.3(LMNA):c.-225C>A | Charcot-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]|Hut chinson-Gilford syndrome [RCV000351009]|Lethal tight skin contracture syndrome [RCV000353336]|Limb-girdle muscular dystrophy, recessive [RCV000289831]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000338085]|Mandibuloacral dysplasia [RCV000404192] | uncertain significance | 1 | 156114694 | 156114694 | Human | 9 | name |
| 11645253 | CV277432 | single nucleotide variant | NM_005572.3(LMNA):c.-210T>C | Charcot-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 dystroph y [RCV000264625]|Familial partial lipodystrophy, Dunnigan type [RCV000387923]|Hutchinson-Gilford syndrome [RCV000269044]|Lethal tight skin contracture syndrome [RCV000329887]|Limb-girdle muscular dystrophy, recessive [RCV000295891]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000359267]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000386597] | uncertain significance | 1 | 156114709 | 156114709 | Human | 12 | name |
| 11647488 | CV277433 | single nucleotide variant | NM_170707.4(LMNA):c.-183C>A | Charcot-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]|Hut chinson-Gilford syndrome [RCV000364405]|Lethal tight skin contracture syndrome [RCV000337822]|Limb-girdle muscular dystrophy, recessive [RCV000276841]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000341353]|Mandibuloacral dysplasia [RCV000303668] | uncertain significance | 1 | 156114736 | 156114736 | Human | 9 | name |
| 11647179 | CV277434 | single nucleotide variant | NM_170707.4(LMNA):c.-142C>A | Charcot-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]|Hut chinson-Gilford syndrome [RCV000290029]|Lethal tight skin contracture syndrome [RCV000375572]|Limb-girdle muscular dystrophy, recessive [RCV000379268]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000275157]|Mandibuloacral dysplasia [RCV000393819] | uncertain significance | 1 | 156114777 | 156114777 | Human | 9 | name |
| 11583289 | CV277441 | single nucleotide variant | NM_170707.4(LMNA):c.-128T>C | Charcot-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 dystroph y [RCV000299347]|Familial partial lipodystrophy, Dunnigan type [RCV000348567]|Hutchinson-Gilford syndrome [RCV000287889]|Lethal tight skin contracture syndrome [RCV000407148]|Limb-girdle muscular dystrophy, recessive [RCV000384802]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000380050]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000295952] | likely benign | 1 | 156114791 | 156114791 | Human | 12 | name |
| 11645836 | CV277445 | single nucleotide variant | NM_170707.4(LMNA):c.-109G>T | Charcot-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]|Hut chinson-Gilford syndrome [RCV000301697]|Lethal tight skin contracture syndrome [RCV000359648]|Limb-girdle muscular dystrophy, recessive [RCV000405878]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000270930]|Mandibuloacral dysplasia [RCV000272013] | uncertain significance | 1 | 156114810 | 156114810 | Human | 9 | name |
| 401942856 | CV2839882 | single nucleotide variant | NM_170707.4(LMNA):c.*694A>G | not provided [RCV003456669] | likely benign | 1 | 156139800 | 156139800 | Human | | name |
| 12846195 | CV364529 | single nucleotide variant | NM_170707.4(LMNA):c.*749G>A | not specified [RCV000441187] | likely benign | 1 | 156139855 | 156139855 | Human | | name |
| 616936130 | CV4010613 | single nucleotide variant | NM_170707.4(LMNA):c.*664A>G | Cardiovascular phenotype [RCV005403959] | uncertain significance | 1 | 156139770 | 156139770 | Human | | name |
| 12899525 | CV404953 | single nucleotide variant | NM_170707.4(LMNA):c.*707A>G | not specified [RCV000480406] | uncertain significance | 1 | 156139813 | 156139813 | Human | | name |
| 14975458 | CV672373 | single nucleotide variant | NM_170707.4(LMNA):c.*722T>C | Cardiovascular phenotype [RCV005400749]|not specified [RCV003317389] | uncertain significance | 1 | 156139828 | 156139828 | Human | | name |
| 28884398 | CV862419 | single nucleotide variant | NM_005572.3(LMNA):c.-223C>T | Charcot-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 dystroph y [RCV001099597]|Familial partial lipodystrophy, Dunnigan type [RCV001099595]|Hutchinson-Gilford syndrome [RCV001099596]|Lethal tight skin contracture syndrome [RCV001099594]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001099599]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001099593]|not provided [RCV001564412] | benign|likely benign|uncertain significance | 1 | 156114696 | 156114696 | Human | 11 | name |
| 126919116 | CV1039477 | single nucleotide variant | NM_170707.4(LMNA):c.639+5G>C | Charcot-Marie-Tooth disease type 2 [RCV001362111] | uncertain significance | 1 | 156134533 | 156134533 | Human | 1 | name |
| 126908435 | CV1039478 | single nucleotide variant | NM_170707.4(LMNA):c.937-7C>A | Cardiomyopathy [RCV005401831]|Charcot-Marie-Tooth disease type 2 [RCV001367857]|not specified [RCV001820069] | likely benign|uncertain significance | 1 | 156135894 | 156135894 | Human | 3 | name |
| 127245217 | CV1054743 | single nucleotide variant | NM_170707.4(LMNA):c.513+2T>C | Charcot-Marie-Tooth disease type 2 [RCV001377378] | likely pathogenic | 1 | 156130775 | 156130775 | Human | 1 | name |
| 127238597 | CV1066295 | single nucleotide variant | NM_170707.4(LMNA):c.357-9C>T | Charcot-Marie-Tooth disease type 2 [RCV001397354] | likely benign | 1 | 156130608 | 156130608 | Human | 1 | name |
| 127337720 | CV1109552 | single nucleotide variant | NM_170707.4(LMNA):c.811-4C>G | Charcot-Marie-Tooth disease type 2 [RCV001475819] | likely benign | 1 | 156135183 | 156135183 | Human | 1 | name |
| 127308312 | CV1130453 | single nucleotide variant | NM_170707.4(LMNA):c.357-8T>C | Cardiomyopathy [RCV005401845]|Cardiovascular phenotype [RCV003160946]|Charcot-Marie-Tooth disease type 2 [RCV001480589]|LMNA-related disorder [RCV004533842]|Primary dilated cardiomyopathy [RCV004007148] | likely benign | 1 | 156130609 | 156130609 | Human | 4 | name , alternate_id |
| 127326894 | CV1160080 | single nucleotide variant | NM_170707.4(LMNA):c.810+4C>A | Cardiomyopathy [RCV001526276]|Charcot-Marie-Tooth disease type 2 [RCV001873700] | uncertain significance | 1 | 156134979 | 156134979 | Human | 3 | name |
| 150542758 | CV1314937 | single nucleotide variant | NM_170707.4(LMNA):c.513+1G>T | not provided [RCV001782389] | likely pathogenic | 1 | 156130774 | 156130774 | Human | | name |
| 151235639 | CV1318988 | single nucleotide variant | NM_170707.4(LMNA):c.937-5T>A | not provided [RCV001795804] | uncertain significance | 1 | 156135896 | 156135896 | Human | | name |
| 151354196 | CV1329329 | single nucleotide variant | NM_170707.4(LMNA):c.810+2T>C | Charcot-Marie-Tooth disease type 2 [RCV002542701]|not provided [RCV001817692] | pathogenic | 1 | 156134977 | 156134977 | Human | 1 | name |
| 151864863 | CV1356722 | single nucleotide variant | NM_170707.4(LMNA):c.811-2A>G | Charcot-Marie-Tooth disease type 2 [RCV001959700] | likely pathogenic | 1 | 156135185 | 156135185 | Human | 1 | name |
| 151773966 | CV1402283 | single nucleotide variant | NM_170707.4(LMNA):c.811-8C>T | Charcot-Marie-Tooth disease type 2 [RCV001929795] | likely benign | 1 | 156135179 | 156135179 | Human | 1 | name |
| 152172225 | CV1598086 | single nucleotide variant | NM_170707.4(LMNA):c.937-6C>A | Charcot-Marie-Tooth disease type 2 [RCV002162381]|Primary dilated cardiomyopathy [RCV004011195] | likely benign|uncertain significance | 1 | 156135895 | 156135895 | Human | 2 | name |
| 152085805 | CV1617386 | single nucleotide variant | NM_170707.4(LMNA):c.937-7C>T | Charcot-Marie-Tooth disease type 2 [RCV002076965]|Primary dilated cardiomyopathy [RCV004011188] | likely benign | 1 | 156135894 | 156135894 | Human | 2 | name |
| 155684675 | CV1824967 | single nucleotide variant | NM_170707.4(LMNA):c.937-2A>G | Cardiovascular phenotype [RCV002371739] | likely pathogenic | 1 | 156135899 | 156135899 | Human | | name |
| 155684677 | CV1824968 | single nucleotide variant | NM_170707.4(LMNA):c.937-3C>T | Cardiomyopathy [RCV003533213]|Cardiovascular phenotype [RCV002371740] | likely benign|uncertain significance | 1 | 156135898 | 156135898 | Human | 2 | name |
| 156311711 | CV1928508 | single nucleotide variant | NM_170707.4(LMNA):c.356+2T>G | Charcot-Marie-Tooth disease type 2 [RCV002648207] | pathogenic | 1 | 156115276 | 156115276 | Human | 1 | name |
| 10056808 | CV196457 | single nucleotide variant | NM_170707.4(LMNA):c.356+1G>A | Cardiovascular phenotype [RCV005404350]|Charcot-Marie-Tooth disease type 2 [RCV000689313]|not provided [RCV000182355] | pathogenic | 1 | 156115275 | 156115275 | Human | 1 | name |
| 10401328 | CV205007 | single nucleotide variant | NM_170707.4(LMNA):c.936+2T>C | Cardiomyopathy [RCV001798660]|Cardiovascular phenotype [RCV003165426]|Charcot-Marie-Tooth disease type 2 [RCV003743622]|Hutchinson-Gilford syndrome [RCV000986430] | pathogenic|likely pathogenic|uncertain significance | 1 | 156135314 | 156135314 | Human | 4 | name |
| 10406135 | CV213515 | single nucleotide variant | NM_170707.4(LMNA):c.810+1G>C | Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV000199480] | pathogenic|likely pathogenic | 1 | 156134976 | 156134976 | Human | 1 | name |
| 11040278 | CV224183 | single nucleotide variant | NM_170707.4(LMNA):c.937-8C>A | Cardiomyopathy [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 muscular dystrophy 2, autosomal dominant [RCV001096752]|Emery-Dreifuss muscular dystrophy [RCV001096747]|Familial partial lipodystrophy, Dunnigan type [RCV001096748]|Hutchinson-Gilford syndrome [RCV001098486]|Lethal tight skin contracture syndrome [RCV001096749]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001096751]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001098488]|Primary dilated cardiomyopathy [RCV000207998]|not provided [RCV001697242] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156135893 | 156135893 | Human | 15 | name |
| 11092334 | CV228273 | single nucleotide variant | NM_170707.4(LMNA):c.356+1G>C | Primary dilated cardiomyopathy [RCV000218409]|not provided [RCV000592631] | pathogenic|likely pathogenic | 1 | 156115275 | 156115275 | Human | 1 | name |
| 11523040 | CV244219 | single nucleotide variant | NM_170707.4(LMNA):c.513+1G>A | Cardiovascular phenotype [RCV004020919]|Charcot-Marie-Tooth disease type 2 [RCV001379216]|not provided [RCV000235237] | pathogenic|likely pathogenic|uncertain significance | 1 | 156130774 | 156130774 | Human | 1 | name |
| 401933333 | CV2804032 | single nucleotide variant | NM_170707.4(LMNA):c.936+4A>G | LMNA-related disorder [RCV004531725] | uncertain significance | 1 | 156135316 | 156135316 | Human | | name , trait , alternate_id |
| 405083846 | CV2863077 | single nucleotide variant | NM_170707.4(LMNA):c.811-9C>A | Charcot-Marie-Tooth disease type 2 [RCV003582318] | likely benign | 1 | 156135178 | 156135178 | Human | 1 | name |
| 405084101 | CV2877288 | single nucleotide variant | NM_170707.4(LMNA):c.356+2T>A | Charcot-Marie-Tooth disease type 2 [RCV003582339] | pathogenic | 1 | 156115276 | 156115276 | Human | 1 | name |
| 405088633 | CV2906416 | single nucleotide variant | NM_170707.4(LMNA):c.640-7C>G | Charcot-Marie-Tooth disease type 2 [RCV003582694]|Primary dilated cardiomyopathy [RCV004011425] | likely benign | 1 | 156134798 | 156134798 | Human | 2 | name |
| 405092816 | CV2925049 | single nucleotide variant | NM_170707.4(LMNA):c.639+3G>A | Charcot-Marie-Tooth disease type 2 [RCV003583025] | uncertain significance | 1 | 156134531 | 156134531 | Human | 1 | name |
| 405095233 | CV2953621 | single nucleotide variant | NM_170707.4(LMNA):c.357-6C>G | Charcot-Marie-Tooth disease type 2 [RCV003745783] | likely benign | 1 | 156130611 | 156130611 | Human | 1 | name |
| 405085600 | CV2994353 | single nucleotide variant | NM_170707.4(LMNA):c.640-9C>G | Charcot-Marie-Tooth disease type 2 [RCV003744323] | uncertain significance | 1 | 156134796 | 156134796 | Human | 1 | name |
| 405077836 | CV3023825 | single nucleotide variant | NM_170707.4(LMNA):c.639+6G>A | Charcot-Marie-Tooth disease type 2 [RCV003743262] | uncertain significance | 1 | 156134534 | 156134534 | Human | 1 | name |
| 405732200 | CV3229404 | duplication | NM_170707.4(LMNA):c.937-6dup | Primary dilated cardiomyopathy [RCV004013971] | likely benign | 1 | 156135889 | 156135890 | Human | 1 | name |
| 405725487 | CV3230524 | deletion | NM_170707.4(LMNA):c.640-7del | Primary dilated cardiomyopathy [RCV004013277] | likely benign | 1 | 156134796 | 156134796 | Human | 1 | name |
| 405722560 | CV3231950 | single nucleotide variant | NM_170707.4(LMNA):c.357-9C>A | Primary dilated cardiomyopathy [RCV004012972] | uncertain significance | 1 | 156130608 | 156130608 | Human | 1 | name |
| 405728830 | CV3391195 | single nucleotide variant | NM_170707.4(LMNA):c.356+9G>A | Cardiovascular phenotype [RCV004524856] | likely benign | 1 | 156115283 | 156115283 | Human | | name |
| 407504633 | CV3495911 | deletion | NM_170707.4(LMNA):c.514-1del | not provided [RCV004697751] | likely pathogenic | 1 | 156134402 | 156134402 | Human | | name |
| 596941205 | CV3546138 | single nucleotide variant | NM_170707.4(LMNA):c.514-5C>T | Primary dilated cardiomyopathy [RCV004806767] | likely benign | 1 | 156134398 | 156134398 | Human | 1 | name |
| 596941225 | CV3546143 | deletion | NM_170707.4(LMNA):c.937-6del | Primary dilated cardiomyopathy [RCV004806772] | likely benign | 1 | 156135890 | 156135890 | Human | 1 | name |
| 597959051 | CV3797461 | single nucleotide variant | NM_170707.4(LMNA):c.811-1G>C | Charcot-Marie-Tooth disease type 2 [RCV005138148] | likely pathogenic | 1 | 156135186 | 156135186 | Human | 1 | name |
| 597864222 | CV3814153 | single nucleotide variant | NM_170707.4(LMNA):c.937-6C>G | Charcot-Marie-Tooth disease type 2 [RCV005147222] | likely benign | 1 | 156135895 | 156135895 | Human | 1 | name |
| 12884455 | CV390833 | single nucleotide variant | NM_170707.4(LMNA):c.513+8C>T | Charcot-Marie-Tooth disease type 2 [RCV001407282] | likely benign | 1 | 156130781 | 156130781 | Human | 1 | name |
| 12890955 | CV390837 | single nucleotide variant | NM_170707.4(LMNA):c.936+7C>T | Charcot-Marie-Tooth disease type 2 [RCV000475659] | likely benign | 1 | 156135319 | 156135319 | Human | 1 | name |
| 598238081 | CV3981074 | single nucleotide variant | NM_170707.4(LMNA):c.514-2A>G | Cardiovascular phenotype [RCV005364192] | likely pathogenic | 1 | 156134401 | 156134401 | Human | | name |
| 616935671 | CV4010250 | single nucleotide variant | NM_170707.4(LMNA):c.811-3C>A | Cardiomyopathy [RCV005403551] | uncertain significance | 1 | 156135184 | 156135184 | Human | 2 | name |
| 13215764 | CV427647 | single nucleotide variant | NM_170707.4(LMNA):c.810+4C>G | Cardiomyopathy [RCV005401471]|Charcot-Marie-Tooth disease type 2 [RCV001247016]|not specified [RCV000502911] | uncertain significance | 1 | 156134979 | 156134979 | Human | 3 | name |
| 13483987 | CV447315 | single nucleotide variant | NM_170707.4(LMNA):c.936+1G>A | Charcot-Marie-Tooth disease type 2 [RCV000552554] | pathogenic | 1 | 156135313 | 156135313 | Human | 1 | name |
| 13533891 | CV509113 | single nucleotide variant | NM_170707.4(LMNA):c.513+2T>G | Cardiovascular phenotype [RCV000618096]|Charcot-Marie-Tooth disease type 2 [RCV003581698]|not provided [RCV000786357] | likely pathogenic|uncertain significance | 1 | 156130775 | 156130775 | Human | 1 | name |
| 13625797 | CV515117 | single nucleotide variant | NM_170707.4(LMNA):c.937-9C>T | Cardiomyopathy [RCV001176893]|Cardiovascular phenotype [RCV003163011]|Charcot-Marie-Tooth disease type 2 [RCV002532007] | likely benign | 1 | 156135892 | 156135892 | Human | 3 | name |
| 13625728 | CV515280 | single nucleotide variant | NM_170707.4(LMNA):c.937-1G>A | Cardiovascular phenotype [RCV002369757]|Charcot-Marie-Tooth disease type 2 [RCV000653870] | likely pathogenic | 1 | 156135900 | 156135900 | Human | 1 | name |
| 8610933 | CV57233 | single nucleotide variant | NM_170707.4(LMNA):c.513+1G>C | Charcot-Marie-Tooth disease type 2 [RCV002513582]|Primary dilated cardiomyopathy [RCV000041353] | likely pathogenic | 1 | 156130774 | 156130774 | Human | 2 | name |
| 14692638 | CV619051 | single nucleotide variant | NM_170707.4(LMNA):c.937-8C>G | Cardiomyopathy [RCV000774196]|Charcot-Marie-Tooth disease type 2 [RCV001456120]|Primary dilated cardiomyopathy [RCV003231611]|not provided [RCV001796209]|not specified [RCV001796210] | benign|likely benign|uncertain significance | 1 | 156135893 | 156135893 | Human | 4 | name |
| 14690779 | CV621704 | single nucleotide variant | NM_170707.4(LMNA):c.639+1G>A | Cardiomyopathy [RCV000781511]|Charcot-Marie-Tooth disease type 2 [RCV000797832]|not provided [RCV004702414] | likely pathogenic | 1 | 156134529 | 156134529 | Human | 3 | name |
| 14699239 | CV624746 | single nucleotide variant | NM_170707.4(LMNA):c.639+9T>C | Charcot-Marie-Tooth disease type 2 [RCV001501103]|not provided [RCV000788525] | likely benign|uncertain significance | 1 | 156134537 | 156134537 | Human | 1 | name |
| 14740383 | CV650582 | single nucleotide variant | NM_170707.4(LMNA):c.640-2A>G | Charcot-Marie-Tooth disease type 2 [RCV000821778] | likely pathogenic | 1 | 156134803 | 156134803 | Human | 1 | name |
| 14703842 | CV650588 | single nucleotide variant | NM_170707.4(LMNA):c.357-2A>G | Charcot-Marie-Tooth disease type 2 [RCV000807553] | pathogenic | 1 | 156130615 | 156130615 | Human | 1 | name |
| 14741157 | CV650632 | single nucleotide variant | NM_170707.4(LMNA):c.356+5G>A | Cardiovascular phenotype [RCV004029093]|Charcot-Marie-Tooth disease type 2 [RCV000822120]|Dilated cardiomyopathy 1A [RCV004776298]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005049712] | likely pathogenic|uncertain significance | 1 | 156115279 | 156115279 | Human | 16 | name |
| 14730539 | CV650636 | single nucleotide variant | NM_170707.4(LMNA):c.811-1G>A | Cardiovascular phenotype [RCV004028046]|Charcot-Marie-Tooth disease type 2 [RCV000800997] | likely pathogenic | 1 | 156135186 | 156135186 | Human | 1 | name |
| 15128176 | CV695005 | single nucleotide variant | NM_170707.4(LMNA):c.937-6C>T | Cardiomyopathy [RCV003532301]|Charcot-Marie-Tooth disease type 2 [RCV001412121]|LMNA-related disorder [RCV004530835] | likely benign | 1 | 156135895 | 156135895 | Human | 3 | name , alternate_id |
| 15188188 | CV777019 | single nucleotide variant | NM_170707.4(LMNA):c.937-5T>C | Cardiomyopathy [RCV001180881]|Cardiovascular phenotype [RCV003169470]|Charcot-Marie-Tooth disease type 2 [RCV000953808]|Dilated cardiomyopathy 1A [RCV001198844] | likely benign|uncertain significance | 1 | 156135896 | 156135896 | Human | 6 | name |
| 8622766 | CV77790 | single nucleotide variant | NM_170707.4(LMNA):c.357-1G>T | Charcot-Marie-Tooth disease type 2 [RCV001387325]|not provided [RCV000057393] | pathogenic|not provided | 1 | 156130616 | 156130616 | Human | 1 | name |
| 8622776 | CV77800 | single nucleotide variant | NM_170707.4(LMNA):c.514-1G>A | Dilated cardiomyopathy 1A [RCV004786334]|not provided [RCV000057413] | pathogenic|not provided | 1 | 156134402 | 156134402 | Human | 2 | name |
| 8622812 | CV77836 | single nucleotide variant | NM_170707.4(LMNA):c.810+1G>A | Charcot-Marie-Tooth disease type 2 [RCV000477527]|not provided [RCV000057465] | pathogenic|likely pathogenic|not provided | 1 | 156134976 | 156134976 | Human | 1 | name |
| 8622829 | CV77853 | single nucleotide variant | NM_170707.4(LMNA):c.936+1G>T | not provided [RCV000057485] | not provided | 1 | 156135313 | 156135313 | Human | | name |
| 8622832 | CV77856 | single nucleotide variant | NM_170707.4(LMNA):c.937-7C>G | Cardiomyopathy [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 provided [RCV000057488]|not specified [RCV000440584] | likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided | 1 | 156135894 | 156135894 | Human | 8 | name |
| 26885530 | CV850728 | single nucleotide variant | NM_170707.4(LMNA):c.639+1G>T | Cardiovascular phenotype [RCV002355077]|Charcot-Marie-Tooth disease type 2 [RCV001065501] | likely pathogenic | 1 | 156134529 | 156134529 | Human | 1 | name |
| 26891460 | CV850734 | single nucleotide variant | NM_170707.4(LMNA):c.937-9C>A | Charcot-Marie-Tooth disease type 2 [RCV001068265]|Primary dilated cardiomyopathy [RCV004000174] | likely benign|uncertain significance | 1 | 156135892 | 156135892 | Human | 2 | name |
| 34897685 | CV915099 | duplication | NM_170707.4(LMNA):c.514-7dup | Cardiomyopathy [RCV001179363]|Charcot-Marie-Tooth disease type 2 [RCV001422955] | likely benign | 1 | 156134394 | 156134395 | Human | 3 | name |
| 34894608 | CV915100 | deletion | NM_170707.4(LMNA):c.513+8del | Cardiomyopathy [RCV001177453] | likely benign | 1 | 156130780 | 156130780 | Human | 2 | name |
| 34895402 | CV915104 | single nucleotide variant | NM_170707.4(LMNA):c.810+5T>C | Cardiomyopathy [RCV001178054] | likely benign | 1 | 156134980 | 156134980 | Human | 2 | name |
| 34897428 | CV915113 | single nucleotide variant | NM_170707.4(LMNA):c.640-8C>G | Cardiomyopathy [RCV001179156]|Cardiovascular phenotype [RCV004033031]|Charcot-Marie-Tooth disease type 2 [RCV005093811] | likely benign | 1 | 156134797 | 156134797 | Human | 3 | name |
| 34896777 | CV915224 | single nucleotide variant | NM_170707.4(LMNA):c.937-8C>T | Cardiomyopathy [RCV001185904]|Charcot-Marie-Tooth disease type 2 [RCV001401080] | likely benign | 1 | 156135893 | 156135893 | Human | 3 | name |
| 38480747 | CV959524 | single nucleotide variant | NM_170707.4(LMNA):c.513+6G>A | Charcot-Marie-Tooth disease type 2 [RCV001234834] | uncertain significance | 1 | 156130779 | 156130779 | Human | 1 | name |
| 38598012 | CV964644 | single nucleotide variant | NM_170707.4(LMNA):c.937-3C>A | Hutchinson-Gilford syndrome [RCV001253332] | uncertain significance | 1 | 156135898 | 156135898 | Human | 1 | name |
| 126744544 | CV1019195 | single nucleotide variant | NM_170707.4(LMNA):c.810+17G>A | Charcot-Marie-Tooth disease type 2 [RCV003745314]|Dilated cardiomyopathy 1A [RCV001337052] | likely benign|uncertain significance | 1 | 156134992 | 156134992 | Human | 3 | name |
| 127266514 | CV1058442 | single nucleotide variant | NM_170707.4(LMNA):c.1608+2T>G | Cardiovascular phenotype [RCV002395876]|Charcot-Marie-Tooth disease type 2 [RCV001388734] | pathogenic|likely pathogenic | 1 | 156137234 | 156137234 | Human | 1 | name |
| 127269632 | CV1088036 | single nucleotide variant | NM_170707.4(LMNA):c.356+10C>A | Charcot-Marie-Tooth disease type 2 [RCV001441125] | likely benign | 1 | 156115284 | 156115284 | Human | 1 | name |
| 127255983 | CV1088038 | single nucleotide variant | NM_170707.4(LMNA):c.639+10G>C | Charcot-Marie-Tooth disease type 2 [RCV001426721] | likely benign | 1 | 156134538 | 156134538 | Human | 1 | name |
| 127258489 | CV1088040 | single nucleotide variant | NM_170707.4(LMNA):c.1158-6C>T | Charcot-Marie-Tooth disease type 2 [RCV001427336]|Primary dilated cardiomyopathy [RCV004006965] | likely benign | 1 | 156136208 | 156136208 | Human | 2 | name |
| 127261032 | CV1088044 | single nucleotide variant | NM_170707.4(LMNA):c.1609-6C>T | Charcot-Marie-Tooth disease type 2 [RCV001428005] | likely benign | 1 | 156137648 | 156137648 | Human | 1 | name |
| 127302611 | CV1109554 | single nucleotide variant | NM_170707.4(LMNA):c.1158-4C>A | Charcot-Marie-Tooth disease type 2 [RCV001461686] | likely benign | 1 | 156136210 | 156136210 | Human | 1 | name |
| 127326653 | CV1160082 | single nucleotide variant | NM_170707.4(LMNA):c.1158-5C>G | Cardiomyopathy [RCV001526137]|Charcot-Marie-Tooth disease type 2 [RCV003745337] | likely benign|uncertain significance | 1 | 156136209 | 156136209 | Human | 3 | name |
| 150428346 | CV1186059 | duplication | NM_170707.4(LMNA):c.1380+5dup | Primary dilated cardiomyopathy [RCV004008933]|not provided [RCV001562144] | likely benign|uncertain significance | 1 | 156136439 | 156136440 | Human | 1 | name |
| 150428803 | CV1186060 | microsatellite | NM_170707.4(LMNA):c.*484AG[9] | not provided [RCV001562748] | likely benign | 1 | 156139588 | 156139589 | Human | | name |
| 150478234 | CV1250853 | single nucleotide variant | NM_170707.4(LMNA):c.936+66C>T | not provided [RCV001672343] | benign | 1 | 156135378 | 156135378 | Human | | name |
| 150452867 | CV1275346 | single nucleotide variant | NM_170707.4(LMNA):c.1699-2A>G | Familial partial lipodystrophy, Dunnigan type [RCV001706860] | likely pathogenic | 1 | 156138486 | 156138486 | Human | 1 | name |
| 151348743 | CV1322693 | single nucleotide variant | NM_170707.4(LMNA):c.357-13C>A | Cardiomyopathy [RCV001804489]|Charcot-Marie-Tooth disease type 2 [RCV002074188] | likely benign|uncertain significance | 1 | 156130604 | 156130604 | Human | 3 | name |
| 151348003 | CV1325230 | single nucleotide variant | NM_170707.4(LMNA):c.1698+1G>A | Charcot-Marie-Tooth disease type 2 [RCV001885299]|Primary dilated cardiomyopathy [RCV004009160]|not provided [RCV001813872] | likely pathogenic|uncertain significance | 1 | 156137744 | 156137744 | Human | 2 | name |
| 151819212 | CV1385827 | single nucleotide variant | NM_170707.4(LMNA):c.811-18C>G | Charcot-Marie-Tooth disease type 2 [RCV002013204]|not specified [RCV003331268] | likely benign | 1 | 156135169 | 156135169 | Human | 1 | name |
| 151841685 | CV1438255 | single nucleotide variant | NM_170707.4(LMNA):c.1488+3G>A | Charcot-Marie-Tooth disease type 2 [RCV001921607] | uncertain significance | 1 | 156137031 | 156137031 | Human | 1 | name |
| 151837578 | CV1469883 | single nucleotide variant | NM_170707.4(LMNA):c.1609-9C>A | Charcot-Marie-Tooth disease type 2 [RCV001880965] | likely benign|uncertain significance | 1 | 156137645 | 156137645 | Human | 1 | name |
| 151727872 | CV1517442 | single nucleotide variant | NM_170707.4(LMNA):c.1608+2T>A | Dilated cardiomyopathy 1A [RCV002052057] | likely pathogenic | 1 | 156137234 | 156137234 | Human | 2 | name |
| 152057509 | CV1523197 | single nucleotide variant | NM_170707.4(LMNA):c.513+11C>A | Charcot-Marie-Tooth disease type 2 [RCV002167620] | likely benign | 1 | 156130784 | 156130784 | Human | 1 | name |
| 152161229 | CV1534688 | single nucleotide variant | NM_170707.4(LMNA):c.1380+8C>T | Charcot-Marie-Tooth disease type 2 [RCV002140955]|LMNA-related disorder [RCV004734468] | likely benign | 1 | 156136444 | 156136444 | Human | 1 | name , alternate_id |
| 152053662 | CV1557666 | single nucleotide variant | NM_170707.4(LMNA):c.936+19C>T | Charcot-Marie-Tooth disease type 2 [RCV002141542]|not provided [RCV002225965] | likely benign | 1 | 156135331 | 156135331 | Human | 1 | name |
| 152061051 | CV1558313 | deletion | NM_170707.4(LMNA):c.640-15del | Charcot-Marie-Tooth disease type 2 [RCV002128347] | likely benign | 1 | 156134789 | 156134789 | Human | 1 | name |
| 152092609 | CV1571250 | single nucleotide variant | NM_170707.4(LMNA):c.936+15C>T | Charcot-Marie-Tooth disease type 2 [RCV002150785] | likely benign | 1 | 156135327 | 156135327 | Human | 1 | name |
| 152124203 | CV1587385 | single nucleotide variant | NM_170707.4(LMNA):c.1381-4G>T | Charcot-Marie-Tooth disease type 2 [RCV002136107]|Primary dilated cardiomyopathy [RCV004005478] | likely benign | 1 | 156136917 | 156136917 | Human | 2 | name |
| 155266192 | CV1684188 | single nucleotide variant | NM_170707.4(LMNA):c.1381-2A>C | Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV002281663] | pathogenic | 1 | 156136919 | 156136919 | Human | 1 | name |
| 10408192 | CV172114 | single nucleotide variant | NM_170707.4(LMNA):c.1968+1G>C | Hutchinson-Gilford syndrome [RCV000192016] | pathogenic|not provided | 1 | 156138758 | 156138758 | Human | 1 | name |
| 10408193 | CV172115 | single nucleotide variant | NM_170707.4(LMNA):c.1968+2T>A | Hutchinson-Gilford syndrome [RCV000192017] | pathogenic|not provided | 1 | 156138759 | 156138759 | Human | 1 | name |
| 10408194 | CV172116 | single nucleotide variant | NM_170707.4(LMNA):c.1968+2T>C | Hutchinson-Gilford syndrome [RCV000192018] | pathogenic|not provided | 1 | 156138759 | 156138759 | Human | 1 | name |
| 10407829 | CV172117 | single nucleotide variant | NM_170707.4(LMNA):c.1968+5G>A | Hutchinson-Gilford progeria syndrome, atypical [RCV000190823]|Hutchinson-Gilford syndrome [RCV000192020] | pathogenic|likely pathogenic|not provided | 1 | 156138762 | 156138762 | Human | 1 | name |
| 10407828 | CV172118 | single nucleotide variant | NM_170707.4(LMNA):c.1968+5G>C | Hutchinson-Gilford syndrome [RCV000192019] | pathogenic|not provided | 1 | 156138762 | 156138762 | Human | 1 | name |
| 9690639 | CV172344 | single nucleotide variant | NM_170707.4(LMNA):c.640-11A>C | Cardiomyopathy [RCV001186918]|Charcot-Marie-Tooth disease type 2 [RCV002056124]|Primary dilated cardiomyopathy [RCV003998309]|not specified [RCV000156325] | likely benign|uncertain significance | 1 | 156134794 | 156134794 | Human | 4 | name |
| 9690913 | CV172349 | single nucleotide variant | NM_170707.4(LMNA):c.1609-1G>A | Charcot-Marie-Tooth disease type 2 [RCV001850165]|Primary dilated cardiomyopathy [RCV000156608]|not provided [RCV000182373] | pathogenic|likely pathogenic | 1 | 156137653 | 156137653 | Human | 2 | name |
| 9691772 | CV172486 | single nucleotide variant | NM_170707.4(LMNA):c.1158-3C>T | Charcot-Marie-Tooth disease type 2 [RCV005055621]|Primary dilated cardiomyopathy [RCV003998207]|not specified [RCV000150951] | pathogenic|likely benign|uncertain significance | 1 | 156136211 | 156136211 | Human | 2 | name |
| 9691773 | CV172490 | single nucleotide variant | NM_170707.4(LMNA):c.1699-8C>G | Cardiomyopathy [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 significance | 1 | 156138480 | 156138480 | Human | 4 | name |
| 9832408 | CV178432 | single nucleotide variant | NM_170707.4(LMNA):c.1381-5G>A | Cardiomyopathy [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]|n ot provided [RCV000484067]|not specified [RCV005237592] | uncertain significance | 1 | 156136916 | 156136916 | Human | 20 | name |
| 155684668 | CV1824965 | single nucleotide variant | NM_170707.4(LMNA):c.937-15C>T | Cardiomyopathy [RCV003533212]|Cardiovascular phenotype [RCV002371737]|Charcot-Marie-Tooth disease type 2 [RCV003094796]|Primary dilated cardiomyopathy [RCV004007284] | likely benign | 1 | 156135886 | 156135886 | Human | 4 | name |
| 156408765 | CV1870294 | single nucleotide variant | NM_170707.4(LMNA):c.810+19T>C | Charcot-Marie-Tooth disease type 2 [RCV003071400] | likely benign | 1 | 156134994 | 156134994 | Human | 1 | name |
| 156412434 | CV1890584 | single nucleotide variant | NM_170707.4(LMNA):c.937-20A>G | Charcot-Marie-Tooth disease type 2 [RCV003072890] | likely benign | 1 | 156135881 | 156135881 | Human | 1 | name |
| 156333570 | CV1905778 | single nucleotide variant | NM_170707.4(LMNA):c.936+16A>G | Charcot-Marie-Tooth disease type 2 [RCV003089937] | likely benign | 1 | 156135328 | 156135328 | Human | 1 | name |
| 156406248 | CV1921512 | single nucleotide variant | NM_170707.4(LMNA):c.356+15G>A | Charcot-Marie-Tooth disease type 2 [RCV002606534] | likely benign | 1 | 156115289 | 156115289 | Human | 1 | name |
| 156270813 | CV1957177 | single nucleotide variant | NM_170707.4(LMNA):c.513+11C>T | Charcot-Marie-Tooth disease type 2 [RCV002577153] | likely benign | 1 | 156130784 | 156130784 | Human | 1 | name |
| 10055555 | CV196458 | single nucleotide variant | NM_170707.4(LMNA):c.357-19T>C | Charcot-Marie-Tooth disease type 2 [RCV002054166]|not specified [RCV000182346] | benign|likely benign | 1 | 156130598 | 156130598 | Human | 1 | name |
| 10055556 | CV196471 | single nucleotide variant | NM_170707.4(LMNA):c.810+12C>T | Charcot-Marie-Tooth disease [RCV001172629]|Charcot-Marie-Tooth disease type 2 [RCV002054167]|not specified [RCV000182347] | benign|likely benign | 1 | 156134987 | 156134987 | Human | 2 | name |
| 10055557 | CV196477 | single nucleotide variant | NM_170707.4(LMNA):c.1157+6C>G | Cardiomyopathy [RCV001182769]|Cardiovascular phenotype [RCV005404349]|Charcot-Marie-Tooth disease type 2 [RCV000821919]|Primary dilated cardiomyopathy [RCV003996713]|not specified [RCV000182348] | benign|likely benign|uncertain significance | 1 | 156136127 | 156136127 | Human | 4 | name |
| 156315739 | CV2028028 | single nucleotide variant | NM_170707.4(LMNA):c.639+11T>C | Charcot-Marie-Tooth disease type 2 [RCV002716788] | likely benign | 1 | 156134539 | 156134539 | Human | 1 | name |
| 156211157 | CV2036900 | single nucleotide variant | NM_170707.4(LMNA):c.1489-8C>T | Cardiomyopathy [RCV003533299]|Charcot-Marie-Tooth disease type 2 [RCV002790246] | likely benign | 1 | 156137105 | 156137105 | Human | 3 | name |
| 156215107 | CV2039024 | single nucleotide variant | NM_170707.4(LMNA):c.1969-8T>C | Charcot-Marie-Tooth disease type 2 [RCV002766763] | likely benign | 1 | 156139072 | 156139072 | Human | 1 | name |
| 155902121 | CV2043664 | single nucleotide variant | NM_170707.4(LMNA):c.640-11A>T | Charcot-Marie-Tooth disease type 2 [RCV002771041] | likely benign | 1 | 156134794 | 156134794 | Human | 1 | name |
| 156136423 | CV2044389 | deletion | NM_170707.4(LMNA):c.639+13del | Charcot-Marie-Tooth disease type 2 [RCV002786364] | likely benign | 1 | 156134541 | 156134541 | Human | 1 | name |
| 156333026 | CV2061483 | single nucleotide variant | NM_170707.4(LMNA):c.936+17C>T | Charcot-Marie-Tooth disease type 2 [RCV002810790] | likely benign | 1 | 156135329 | 156135329 | Human | 1 | name |
| 156060795 | CV2069226 | single nucleotide variant | NM_170707.4(LMNA):c.1609-2A>G | Charcot-Marie-Tooth disease type 2 [RCV002846766] | likely pathogenic | 1 | 156137652 | 156137652 | Human | 1 | name |
| 155977557 | CV2073171 | single nucleotide variant | NM_170707.4(LMNA):c.513+45T>C | Charcot-Marie-Tooth disease type 2 [RCV002842362] | likely benign | 1 | 156130818 | 156130818 | Human | 1 | name |
| 11093743 | CV228278 | single nucleotide variant | NM_170707.4(LMNA):c.1488+8G>A | Cardiovascular 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 significance | 1 | 156137036 | 156137036 | Human | 2 | name |
| 11090269 | CV228280 | single nucleotide variant | NM_170707.4(LMNA):c.1381-6C>T | Cardiomyopathy [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 significance | 1 | 156136915 | 156136915 | Human | 4 | name |
| 11345550 | CV237758 | single nucleotide variant | NM_170707.4(LMNA):c.513+45T>G | Charcot-Marie-Tooth disease type 2 [RCV003581587]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV000225043] | pathogenic|uncertain significance | 1 | 156130818 | 156130818 | Human | 2 | name |
| 156436072 | CV2403685 | single nucleotide variant | NM_170707.4(LMNA):c.356+12C>T | Cardiomyopathy [RCV003128184]|Charcot-Marie-Tooth disease type 2 [RCV005099272] | likely benign|uncertain significance | 1 | 156115286 | 156115286 | Human | 3 | name |
| 243058644 | CV2413108 | single nucleotide variant | NM_170707.4(LMNA):c.1157+3G>A | Cardiovascular phenotype [RCV004636709]|Charcot-Marie-Tooth disease type 2 [RCV003745552]|not provided [RCV003134078] | uncertain significance | 1 | 156136124 | 156136124 | Human | 1 | name |
| 329355394 | CV2430046 | single nucleotide variant | NM_170707.4(LMNA):c.1381-1G>A | Cardiovascular phenotype [RCV003177759] | likely pathogenic | 1 | 156136920 | 156136920 | Human | | name |
| 11523671 | CV244228 | single nucleotide variant | NM_170707.4(LMNA):c.1157+1G>T | Charcot-Marie-Tooth disease type 2 [RCV001857811]|not provided [RCV000236305] | pathogenic|likely pathogenic | 1 | 156136122 | 156136122 | Human | 1 | name |
| 11523984 | CV244233 | single nucleotide variant | NM_170707.4(LMNA):c.1489-2A>G | Cardiovascular phenotype [RCV002392730]|Charcot-Marie-Tooth disease type 2 [RCV002518441]|not provided [RCV000236890] | pathogenic|likely pathogenic | 1 | 156137111 | 156137111 | Human | 1 | name |
| 11523433 | CV244236 | single nucleotide variant | NM_170707.4(LMNA):c.1609-8C>G | Charcot-Marie-Tooth disease type 2 [RCV002518429]|not provided [RCV000235897] | likely benign|uncertain significance | 1 | 156137646 | 156137646 | Human | 1 | name |
| 11549562 | CV249418 | single nucleotide variant | NM_170707.4(LMNA):c.936+47C>T | not specified [RCV000250579] | likely benign | 1 | 156135359 | 156135359 | Human | | name |
| 11642947 | CV269951 | single nucleotide variant | NM_170707.4(LMNA):c.1609-8C>T | not provided [RCV000385066] | uncertain significance | 1 | 156137646 | 156137646 | Human | | name |
| 401857135 | CV2750436 | single nucleotide variant | NM_170707.4(LMNA):c.1157+1G>C | Cardiovascular phenotype [RCV004992599]|not provided [RCV003334109] | pathogenic|uncertain significance | 1 | 156136122 | 156136122 | Human | | name |
| 11577521 | CV276610 | single nucleotide variant | NM_170707.4(LMNA):c.936+12C>T | Cardiovascular 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 muscular dystrophy [RCV000307693]|Familial partial lipodystrophy [RCV000274234]|Hutchinson-Gilford syndrome [RCV000277642]|Lethal tight skin contracture syndrome [RCV000370046]|Limb-girdle muscular dystrophy, recessive [RCV000313011]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000316315]|Mandibuloacral dysplasia [RCV000373251]|not specified [RCV000611471] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156135324 | 156135324 | Human | 12 | name |
| 11644331 | CV277453 | single nucleotide variant | NM_170707.4(LMNA):c.514-11C>T | Cardiomyopathy [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 1 A [RCV000277232]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001096563]|Emery-Dreifuss muscular dystrophy [RCV000259634]|Familial partial lipodystrophy, Dunnigan type [RCV000312526]|Hutchinson-Gilford syndrome [RCV000271579]|Lethal tight skin contracture syndrome [RCV000367228]|Limb-girdle muscular dystrophy, recessive [RCV000366122]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000372986]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000373949]|not provided [RCV000828218] | likely benign|uncertain significance | 1 | 156134392 | 156134392 | Human | 17 | name |
| 405173925 | CV2853541 | deletion | NM_170707.4(LMNA):c.1968+1del | not provided [RCV003542577] | uncertain significance | 1 | 156138757 | 156138757 | Human | | name |
| 405071124 | CV2885329 | single nucleotide variant | NM_170707.4(LMNA):c.357-18C>G | Charcot-Marie-Tooth disease type 2 [RCV003581128] | likely benign | 1 | 156130599 | 156130599 | Human | 1 | name |
| 405075631 | CV2898334 | single nucleotide variant | NM_170707.4(LMNA):c.1608+4A>G | Charcot-Marie-Tooth disease type 2 [RCV003581429] | uncertain significance | 1 | 156137236 | 156137236 | Human | 1 | name |
| 405088459 | CV2900196 | single nucleotide variant | NM_170707.4(LMNA):c.639+18C>T | Charcot-Marie-Tooth disease type 2 [RCV003582679] | likely benign | 1 | 156134546 | 156134546 | Human | 1 | name |
| 405063090 | CV2934268 | single nucleotide variant | NM_170707.4(LMNA):c.357-15C>T | Cardiomyopathy [RCV003532552] | likely benign | 1 | 156130602 | 156130602 | Human | 2 | name |
| 405063147 | CV2934274 | single nucleotide variant | NM_170707.4(LMNA):c.1157+5G>T | Cardiomyopathy [RCV003532558]|Primary dilated cardiomyopathy [RCV004011491] | uncertain significance | 1 | 156136126 | 156136126 | Human | 3 | name |
| 405246395 | CV2971184 | single nucleotide variant | NM_170707.4(LMNA):c.1381-5G>T | Charcot-Marie-Tooth disease type 2 [RCV003745962] | likely benign | 1 | 156136916 | 156136916 | Human | 1 | name |
| 405083119 | CV2972671 | single nucleotide variant | NM_170707.4(LMNA):c.356+17G>T | Charcot-Marie-Tooth disease type 2 [RCV003744063] | likely benign | 1 | 156115291 | 156115291 | Human | 1 | name |
| 405085173 | CV2983490 | single nucleotide variant | NM_170707.4(LMNA):c.937-14C>T | Charcot-Marie-Tooth disease type 2 [RCV003744291] | likely benign | 1 | 156135887 | 156135887 | Human | 1 | name |
| 405075589 | CV3007465 | single nucleotide variant | NM_170707.4(LMNA):c.513+19G>T | Charcot-Marie-Tooth disease type 2 [RCV003743127] | likely benign | 1 | 156130792 | 156130792 | Human | 1 | name |
| 405077057 | CV3023083 | single nucleotide variant | NM_170707.4(LMNA):c.640-16C>T | Charcot-Marie-Tooth disease type 2 [RCV003743223] | likely benign | 1 | 156134789 | 156134789 | Human | 1 | name |
| 405079697 | CV3043902 | single nucleotide variant | NM_170707.4(LMNA):c.936+10C>T | Charcot-Marie-Tooth disease type 2 [RCV003743430] | likely benign | 1 | 156135322 | 156135322 | Human | 1 | name |
| 405046427 | CV3154562 | single nucleotide variant | NM_170707.4(LMNA):c.640-20C>T | Charcot-Marie-Tooth disease type 2 [RCV003849238] | likely benign | 1 | 156134785 | 156134785 | Human | 1 | name |
| 405248636 | CV3169678 | single nucleotide variant | NM_170707.4(LMNA):c.1157+7T>C | Charcot-Marie-Tooth disease type 2 [RCV003869491] | likely benign | 1 | 156136128 | 156136128 | Human | 1 | name |
| 405264251 | CV3189965 | single nucleotide variant | NM_170707.4(LMNA):c.513+36C>T | LMNA-related disorder [RCV004534463] | likely benign | 1 | 156130809 | 156130809 | Human | | name , trait , alternate_id |
| 405280624 | CV3195646 | single nucleotide variant | NM_170707.4(LMNA):c.936+49G>C | LMNA-related disorder [RCV004536990] | likely benign | 1 | 156135361 | 156135361 | Human | | name , trait , alternate_id |
| 405723406 | CV3230313 | single nucleotide variant | NM_170707.4(LMNA):c.1158-8C>T | Primary dilated cardiomyopathy [RCV004013065] | likely benign | 1 | 156136206 | 156136206 | Human | 1 | name |
| 405712265 | CV3231821 | single nucleotide variant | NM_170707.4(LMNA):c.1489-5T>C | Primary dilated cardiomyopathy [RCV004011851] | uncertain significance | 1 | 156137108 | 156137108 | Human | 1 | name |
| 405728811 | CV3391192 | single nucleotide variant | NM_170707.4(LMNA):c.1489-1G>A | Cardiovascular phenotype [RCV004524853] | likely pathogenic | 1 | 156137112 | 156137112 | Human | | name |
| 405728843 | CV3391197 | single nucleotide variant | NM_170707.4(LMNA):c.937-10C>T | Cardiovascular phenotype [RCV004524858] | likely benign | 1 | 156135891 | 156135891 | Human | | name |
| 405852361 | CV3395977 | single nucleotide variant | NM_170707.4(LMNA):c.1157+2T>A | Primary dilated cardiomyopathy [RCV004556980] | pathogenic | 1 | 156136123 | 156136123 | Human | 1 | name |
| 407573696 | CV3498063 | single nucleotide variant | NM_170707.4(LMNA):c.1608+1G>T | not provided [RCV004702049] | pathogenic | 1 | 156137233 | 156137233 | Human | | name |
| 408386377 | CV3522490 | single nucleotide variant | NM_170707.4(LMNA):c.1608+4A>T | not provided [RCV004767850] | uncertain significance | 1 | 156137236 | 156137236 | Human | | name |
| 596941233 | CV3546145 | single nucleotide variant | NM_170707.4(LMNA):c.1158-7T>C | Charcot-Marie-Tooth disease type 2 [RCV005105200]|Primary dilated cardiomyopathy [RCV004806774] | likely benign | 1 | 156136207 | 156136207 | Human | 2 | name |
| 12838868 | CV364452 | single nucleotide variant | NM_170707.4(LMNA):c.1609-9C>T | Charcot-Marie-Tooth disease type 2 [RCV002521808]|not specified [RCV000427759] | likely benign | 1 | 156137645 | 156137645 | Human | 1 | name |
| 12842226 | CV364493 | single nucleotide variant | NM_170707.4(LMNA):c.811-12C>T | Cardiomyopathy [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 benign | 1 | 156135175 | 156135175 | Human | 18 | name |
| 12844198 | CV364549 | single nucleotide variant | NM_170707.4(LMNA):c.356+18G>T | Charcot-Marie-Tooth disease type 2 [RCV002062441]|not specified [RCV000437571] | likely benign | 1 | 156115292 | 156115292 | Human | 1 | name |
| 597831702 | CV3759788 | single nucleotide variant | NM_170707.4(LMNA):c.937-13C>T | Charcot-Marie-Tooth disease type 2 [RCV005084726] | likely benign | 1 | 156135888 | 156135888 | Human | 1 | name |
| 597854601 | CV3762511 | single nucleotide variant | NM_170707.4(LMNA):c.1158-1G>A | Primary familial dilated cardiomyopathy [RCV005088427] | pathogenic | 1 | 156136213 | 156136213 | Human | 1 | name |
| 597924444 | CV3777943 | single nucleotide variant | NM_170707.4(LMNA):c.639+12G>T | Charcot-Marie-Tooth disease type 2 [RCV005130667] | likely benign | 1 | 156134540 | 156134540 | Human | 1 | name |
| 597913256 | CV3778678 | single nucleotide variant | NM_170707.4(LMNA):c.811-13T>C | Charcot-Marie-Tooth disease type 2 [RCV005129023] | likely benign | 1 | 156135174 | 156135174 | Human | 1 | name |
| 597966713 | CV3794301 | single nucleotide variant | NM_170707.4(LMNA):c.513+20C>T | Charcot-Marie-Tooth disease type 2 [RCV005140477] | likely benign | 1 | 156130793 | 156130793 | Human | 1 | name |
| 597894612 | CV3810080 | single nucleotide variant | NM_170707.4(LMNA):c.810+15T>C | Charcot-Marie-Tooth disease type 2 [RCV005151801] | likely benign | 1 | 156134990 | 156134990 | Human | 1 | name |
| 597916856 | CV3811071 | single nucleotide variant | NM_170707.4(LMNA):c.1157+8G>T | Charcot-Marie-Tooth disease type 2 [RCV005155106] | likely benign | 1 | 156136129 | 156136129 | Human | 1 | name |
| 597840141 | CV3825264 | single nucleotide variant | NM_170707.4(LMNA):c.1380+9C>T | Charcot-Marie-Tooth disease type 2 [RCV005171947] | likely benign | 1 | 156136445 | 156136445 | Human | 1 | name |
| 597920054 | CV3842592 | single nucleotide variant | NM_170707.4(LMNA):c.357-18C>T | Charcot-Marie-Tooth disease type 2 [RCV005184077] | likely benign | 1 | 156130599 | 156130599 | Human | 1 | name |
| 597912646 | CV3850541 | single nucleotide variant | NM_170707.4(LMNA):c.1969-1G>A | Charcot-Marie-Tooth disease type 2 [RCV005203690] | uncertain significance | 1 | 156139079 | 156139079 | Human | 1 | name |
| 597908893 | CV3853769 | single nucleotide variant | NM_170707.4(LMNA):c.1380+5G>C | Charcot-Marie-Tooth disease type 2 [RCV005203252] | uncertain significance | 1 | 156136441 | 156136441 | Human | 1 | name |
| 597881366 | CV3857409 | single nucleotide variant | NM_170707.4(LMNA):c.513+18G>A | Charcot-Marie-Tooth disease type 2 [RCV005199025] | likely benign | 1 | 156130791 | 156130791 | Human | 1 | name |
| 12896591 | CV389323 | single nucleotide variant | NM_170707.4(LMNA):c.1969-1G>T | Cardiomyopathy [RCV001188692]|Charcot-Marie-Tooth disease type 2 [RCV001303566]|Primary dilated cardiomyopathy [RCV004000603]|not provided [RCV003441856]|not specified [RCV000455558] | uncertain significance | 1 | 156139079 | 156139079 | Human | 4 | name |
| 616937359 | CV4010998 | single nucleotide variant | NM_170707.4(LMNA):c.937-46A>T | not specified [RCV005404842] | likely benign | 1 | 156135855 | 156135855 | Human | | name |
| 13213592 | CV427645 | single nucleotide variant | NM_170707.4(LMNA):c.513+12C>A | Charcot-Marie-Tooth disease type 2 [RCV002060129]|not specified [RCV000500206] | likely benign|uncertain significance | 1 | 156130785 | 156130785 | Human | 1 | name |
| 13504434 | CV442640 | single nucleotide variant | NM_170707.4(LMNA):c.1698+1G>C | Cardiomyopathy [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 significance | 1 | 156137744 | 156137744 | Human | 4 | name , alternate_id |
| 8569612 | CV45137 | single nucleotide variant | NM_170707.4(LMNA):c.1381-2A>G | Cardiovascular phenotype [RCV005403727]|Congenital muscular dystrophy due to LMNA mutation [RCV000030147]|not provided [RCV000057284] | pathogenic|likely pathogenic|not provided | 1 | 156136919 | 156136919 | Human | 1 | name |
| 8569614 | CV45140 | single nucleotide variant | NM_170707.4(LMNA):c.357-20C>T | Charcot-Marie-Tooth disease type 2 [RCV002054501]|not provided [RCV000057394]|not specified [RCV005414257] | likely benign|uncertain significance|not provided | 1 | 156130597 | 156130597 | Human | 1 | name |
| 8569616 | CV45142 | single nucleotide variant | NM_170707.4(LMNA):c.810+13G>T | Cardiomyopathy [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 mutat ion [RCV000325879]|Dilated cardiomyopathy 1A [RCV000319052]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002482919]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001096665]|Emery-Dreifuss muscular dystrophy [RCV000265060]|Familial partial lipodystrophy, Dunnigan type [RCV000398608]|Hutchinson-Gilford syndrome [RCV000324727]|Lethal tight skin contracture syndrome [RCV000383154]|Limb-girdle muscular dystrophy, recessive [RCV000379234]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000289568]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000293408]|Primary dilated cardiomyopathy [RCV002464077]|not provided [RCV000057464]|not specified [RCV000041371] | benign|not provided | 1 | 156134988 | 156134988 | Human | 22 | name |
| 13521507 | CV495086 | single nucleotide variant | NM_170707.4(LMNA):c.1488+6T>G | Cardiomyopathy [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 significance | 1 | 156137034 | 156137034 | Human | 6 | name |
| 13535681 | CV498122 | single nucleotide variant | NM_170707.4(LMNA):c.639+12G>A | not specified [RCV000607945] | likely benign | 1 | 156134540 | 156134540 | Human | | name |
| 13538904 | CV498124 | deletion | NM_170707.4(LMNA):c.811-18del | not specified [RCV000612522] | likely benign | 1 | 156135167 | 156135167 | Human | | name |
| 13534772 | CV509123 | single nucleotide variant | NM_170707.4(LMNA):c.1608+5G>A | Cardiovascular phenotype [RCV000619007] | likely pathogenic | 1 | 156137237 | 156137237 | Human | | name |
| 13625858 | CV515122 | single nucleotide variant | NM_170707.4(LMNA):c.1609-4C>T | Cardiomyopathy [RCV003532226]|Charcot-Marie-Tooth disease type 2 [RCV000654022]|Primary dilated cardiomyopathy [RCV004004117] | likely benign | 1 | 156137650 | 156137650 | Human | 4 | name |
| 13625804 | CV515138 | single nucleotide variant | NM_170707.4(LMNA):c.1609-7C>T | Charcot-Marie-Tooth disease type 2 [RCV000654019] | likely benign | 1 | 156137647 | 156137647 | Human | 1 | name |
| 13625781 | CV515284 | single nucleotide variant | NM_170707.4(LMNA):c.1380+2T>G | Charcot-Marie-Tooth disease type 2 [RCV000653953] | pathogenic|likely pathogenic | 1 | 156136438 | 156136438 | Human | 1 | name |
| 8610947 | CV57249 | single nucleotide variant | NM_170707.4(LMNA):c.810+13G>A | Charcot-Marie-Tooth disease type 2 [RCV002054811]|not specified [RCV000041370] | likely benign | 1 | 156134988 | 156134988 | Human | 1 | name |
| 8610948 | CV57250 | single nucleotide variant | NM_170707.4(LMNA):c.811-13T>A | Cardiomyopathy [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 mutat ion [RCV000335689]|Dilated cardiomyopathy 1A [RCV000406731]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001100168]|Emery-Dreifuss muscular dystrophy [RCV000361342]|Familial partial lipodystrophy, Dunnigan type [RCV000406740]|Hutchinson-Gilford syndrome [RCV000300601]|Lethal tight skin contracture syndrome [RCV000268196]|Limb-girdle muscular dystrophy, recessive [RCV000325561]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000271656]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000301904]|not provided [RCV000057470]|not specified [RCV000041372] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided | 1 | 156135174 | 156135174 | Human | 18 | name |
| 13835705 | CV586967 | single nucleotide variant | NM_170707.4(LMNA):c.640-52C>T | Charcot-Marie-Tooth disease type 2 [RCV001511690]|LMNA-related disorder [RCV004540059]|not provided [RCV000731588]|not specified [RCV001700299] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156134753 | 156134753 | Human | 1 | name , alternate_id |
| 14688734 | CV615184 | single nucleotide variant | NM_170707.4(LMNA):c.1381-6C>A | Cardiomyopathy [RCV000769729]|Charcot-Marie-Tooth disease type 2 [RCV001309848] | uncertain significance | 1 | 156136915 | 156136915 | Human | 3 | name |
| 14728330 | CV657113 | single nucleotide variant | NM_170707.4(LMNA):c.639+56G>T | not provided [RCV000834725] | benign | 1 | 156134584 | 156134584 | Human | | name |
| 14728333 | CV657118 | single nucleotide variant | NM_170707.4(LMNA):c.639+73C>T | not provided [RCV000834726] | benign | 1 | 156134601 | 156134601 | Human | | name |
| 15111419 | CV695006 | single nucleotide variant | NM_170707.4(LMNA):c.1488+7G>A | Cardiovascular phenotype [RCV003169178]|Charcot-Marie-Tooth disease type 2 [RCV000872310]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002507521] | likely benign | 1 | 156137035 | 156137035 | Human | 16 | name |
| 15141133 | CV758864 | single nucleotide variant | NM_170707.4(LMNA):c.1969-4T>C | Cardiomyopathy [RCV001179743]|Charcot-Marie-Tooth disease [RCV001173404]|Charcot-Marie-Tooth disease type 2 [RCV000921791]|Primary dilated cardiomyopathy [RCV004807222]|not provided [RCV001702860] | likely benign|uncertain significance | 1 | 156139076 | 156139076 | Human | 5 | name |
| 15108822 | CV774381 | single nucleotide variant | NM_170707.4(LMNA):c.1489-9C>T | Cardiomyopathy [RCV003532329]|Charcot-Marie-Tooth disease type 2 [RCV001453406]|not provided [RCV000938223] | likely benign | 1 | 156137104 | 156137104 | Human | 3 | name |
| 15097727 | CV774391 | single nucleotide variant | NM_170707.4(LMNA):c.1381-6C>G | Charcot-Marie-Tooth disease type 2 [RCV000936113]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002489250] | likely benign | 1 | 156136915 | 156136915 | Human | 3 | name |
| 8622656 | CV77678 | single nucleotide variant | NM_170707.4(LMNA):c.1157+1G>A | Cardiovascular phenotype [RCV000621430]|Charcot-Marie-Tooth disease type 2 [RCV002513736]|not provided [RCV000057242] | pathogenic|likely pathogenic|not provided | 1 | 156136122 | 156136122 | Human | 1 | name |
| 8622659 | CV77681 | single nucleotide variant | NM_170707.4(LMNA):c.1158-2A>G | not provided [RCV000057245] | likely pathogenic|not provided | 1 | 156136212 | 156136212 | Human | | name |
| 8622692 | CV77714 | single nucleotide variant | NM_170707.4(LMNA):c.1380+1G>A | Cardiovascular phenotype [RCV002381366]|Charcot-Marie-Tooth disease type 2 [RCV000697969]|Dilated cardiomyopathy 1A [RCV001535753]|not provided [RCV000057283] | pathogenic|not provided | 1 | 156136437 | 156136437 | Human | 13 | name |
| 8622693 | CV77715 | single nucleotide variant | NM_170707.4(LMNA):c.1381-8C>G | not provided [RCV000057285] | not provided | 1 | 156136913 | 156136913 | Human | | name |
| 8622706 | CV77728 | single nucleotide variant | NM_170707.4(LMNA):c.1488+1G>A | Cardiovascular phenotype [RCV003298103]|Charcot-Marie-Tooth disease type 2 [RCV003581574]|not provided [RCV000057305] | pathogenic|likely pathogenic|uncertain significance|not provided | 1 | 156137029 | 156137029 | Human | 1 | name |
| 8622707 | CV77729 | single nucleotide variant | NM_170707.4(LMNA):c.1488+5G>A | not provided [RCV000057306] | not provided | 1 | 156137033 | 156137033 | Human | | name |
| 8622708 | CV77730 | single nucleotide variant | NM_170707.4(LMNA):c.1488+5G>C | Charcot-Marie-Tooth disease type 2 [RCV003581575]|Familial partial lipodystrophy, Dunnigan type [RCV000015610]|not provided [RCV000057307] | pathogenic|uncertain significance|not provided | 1 | 156137033 | 156137033 | Human | 2 | name |
| 8622727 | CV77750 | single nucleotide variant | NM_170707.4(LMNA):c.1608+1G>A | Cardiovascular 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 provided | 1 | 156137233 | 156137233 | Human | 17 | name |
| 8622728 | CV77751 | single nucleotide variant | NM_170707.4(LMNA):c.1608+5G>C | Cardiovascular phenotype [RCV002390205]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV000015589]|not provided [RCV000057336] | pathogenic|not provided | 1 | 156137237 | 156137237 | Human | 2 | name |
| 8622730 | CV77753 | single nucleotide variant | NM_170707.4(LMNA):c.1609-3C>G | Cardiovascular 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 p rovided [RCV000057338] | pathogenic|likely pathogenic|not provided | 1 | 156137651 | 156137651 | Human | 5 | name , alternate_id |
| 8622731 | CV77754 | single nucleotide variant | NM_170707.4(LMNA):c.1609-5A>G | not provided [RCV000057339] | not provided | 1 | 156137649 | 156137649 | Human | | name |
| 8622753 | CV77776 | single nucleotide variant | NM_170707.4(LMNA):c.1968+1G>A | Hutchinson-Gilford syndrome [RCV000015607]|Restrictive dermopathy 2 [RCV001847645]|not provided [RCV000057377] | pathogenic|not provided | 1 | 156138758 | 156138758 | Human | 2 | name |
| 8622793 | CV77817 | single nucleotide variant | NM_170707.4(LMNA):c.640-10A>C | not provided [RCV000057436] | not provided | 1 | 156134795 | 156134795 | Human | | name |
| 8622794 | CV77818 | single nucleotide variant | NM_170707.4(LMNA):c.640-10A>G | Cardiovascular phenotype [RCV002362690]|Charcot-Marie-Tooth disease type 2 [RCV001221904]|Dilated cardiomyopathy 1A [RCV001029824]|not provided [RCV000057437] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided | 1 | 156134795 | 156134795 | Human | 4 | name |
| 8622813 | CV77837 | single nucleotide variant | NM_170707.4(LMNA):c.810+61C>T | not provided [RCV000057466] | benign|not provided | 1 | 156135036 | 156135036 | Human | | name |
| 8622814 | CV77838 | single nucleotide variant | NM_170707.4(LMNA):c.810+63C>A | not provided [RCV000057467] | not provided | 1 | 156135038 | 156135038 | Human | | name |
| 8622816 | CV77840 | single nucleotide variant | NM_170707.4(LMNA):c.811-10T>A | not provided [RCV000057469] | not provided | 1 | 156135177 | 156135177 | Human | | name |
| 8622830 | CV77854 | single nucleotide variant | NM_170707.4(LMNA):c.937-11C>G | Charcot-Marie-Tooth disease type 2 [RCV001854178]|not provided [RCV000057486] | pathogenic|not provided | 1 | 156135890 | 156135890 | Human | 1 | name |
| 8622831 | CV77855 | single nucleotide variant | NM_170707.4(LMNA):c.937-46A>G | not provided [RCV000057487]|not specified [RCV005403746] | likely benign|not provided | 1 | 156135855 | 156135855 | Human | | name |
| 15116337 | CV787005 | single nucleotide variant | NM_170707.4(LMNA):c.1699-4C>T | Cardiomyopathy [RCV001184431]|Cardiovascular phenotype [RCV005359710]|Charcot-Marie-Tooth disease type 2 [RCV000978573]|LMNA-related disorder [RCV004543651]|not specified [RCV005405468] | likely benign | 1 | 156138484 | 156138484 | Human | 3 | name , alternate_id |
| 21070486 | CV789856 | single nucleotide variant | NM_170707.4(LMNA):c.1969-2A>T | Dilated cardiomyopathy 1A [RCV002249095] | likely pathogenic | 1 | 156139078 | 156139078 | Human | 2 | name |
| 26898622 | CV850729 | single nucleotide variant | NM_170707.4(LMNA):c.1488+1G>T | Charcot-Marie-Tooth disease type 2 [RCV001048954] | pathogenic|likely pathogenic | 1 | 156137029 | 156137029 | Human | 1 | name |
| 26901136 | CV851103 | single nucleotide variant | NM_170707.4(LMNA):c.1158-1G>T | Charcot-Marie-Tooth disease type 2 [RCV001049778] | likely pathogenic | 1 | 156136213 | 156136213 | Human | 1 | name |
| 28880911 | CV858855 | single nucleotide variant | NM_170707.4(LMNA):c.1968+3G>A | Cardiomyopathy [RCV001177999]|not provided [RCV001092176] | likely benign|uncertain significance | 1 | 156138760 | 156138760 | Human | 2 | name |
| 28890643 | CV864995 | single nucleotide variant | NM_170707.4(LMNA):c.356+12C>A | Charcot-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 dystroph y [RCV001099883]|Familial partial lipodystrophy, Dunnigan type [RCV001099887]|Hutchinson-Gilford syndrome [RCV001101877]|Lethal tight skin contracture syndrome [RCV001101874]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001099886]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001099888] | uncertain significance | 1 | 156115286 | 156115286 | Human | 11 | name |
| 34891054 | CV915102 | single nucleotide variant | NM_170707.4(LMNA):c.937-11C>A | Cardiomyopathy [RCV001182360]|Charcot-Marie-Tooth disease type 2 [RCV002559022] | likely benign | 1 | 156135890 | 156135890 | Human | 3 | name |
| 34896520 | CV915114 | single nucleotide variant | NM_170707.4(LMNA):c.1380+3A>G | Cardiomyopathy [RCV001185770]|Cardiovascular phenotype [RCV002379715]|Charcot-Marie-Tooth disease type 2 [RCV005057043] | uncertain significance | 1 | 156136439 | 156136439 | Human | 3 | name |
| 34893278 | CV915118 | single nucleotide variant | NM_170707.4(LMNA):c.1699-8C>T | Cardiomyopathy [RCV001176405] | likely benign | 1 | 156138480 | 156138480 | Human | 2 | name |
| 34888723 | CV915170 | single nucleotide variant | NM_170707.4(LMNA):c.1699-7T>C | Cardiomyopathy [RCV001180930]|Charcot-Marie-Tooth disease type 2 [RCV001469235]|Dilated cardiomyopathy 1A [RCV001262512]|Primary dilated cardiomyopathy [RCV004006700]|not provided [RCV002264213] | likely benign|uncertain significance | 1 | 156138481 | 156138481 | Human | 6 | name |
| 34897190 | CV915226 | single nucleotide variant | NM_170707.4(LMNA):c.1699-9C>T | Cardiomyopathy [RCV001186264]|Cardiovascular phenotype [RCV003163447]|Charcot-Marie-Tooth disease type 2 [RCV001399224]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002484016]|Primary dilated cardiomyopathy [RCV004807404] | likely benign | 1 | 156138479 | 156138479 | Human | 18 | name |
| 38481520 | CV959525 | single nucleotide variant | NM_170707.4(LMNA):c.937-10C>A | Charcot-Marie-Tooth disease type 2 [RCV001235144] | uncertain significance | 1 | 156135891 | 156135891 | Human | 1 | name |
| 41406915 | CV982361 | single nucleotide variant | NM_170707.4(LMNA):c.1968+8G>T | not provided [RCV001289080] | uncertain significance | 1 | 156138765 | 156138765 | Human | | name |
| 127326282 | CV1160087 | single nucleotide variant | NM_170707.4(LMNA):c.1698+26G>A | Cardiomyopathy [RCV001525867] | uncertain significance | 1 | 156137769 | 156137769 | Human | 2 | name |
| 150334638 | CV1170595 | single nucleotide variant | NM_170707.4(LMNA):c.357-778C>G | not provided [RCV001540154] | benign | 1 | 156129839 | 156129839 | Human | | name |
| 150414780 | CV1175762 | single nucleotide variant | NM_170707.4(LMNA):c.1698+25C>G | not provided [RCV001548285] | likely benign | 1 | 156137768 | 156137768 | Human | | name |
| 150481259 | CV1222129 | duplication | NM_170707.4(LMNA):c.1968+20dup | not provided [RCV001616927] | benign | 1 | 156138776 | 156138777 | Human | | name |
| 150436290 | CV1234039 | duplication | NM_170707.4(LMNA):c.357-171dup | not provided [RCV001644166] | benign | 1 | 156130443 | 156130444 | Human | | name |
| 151880272 | CV1421298 | single nucleotide variant | NM_170707.4(LMNA):c.1699-10C>A | Charcot-Marie-Tooth disease type 2 [RCV001886372]|Primary dilated cardiomyopathy [RCV004010748] | likely benign|uncertain significance | 1 | 156138478 | 156138478 | Human | 2 | name |
| 151756540 | CV1426151 | single nucleotide variant | NM_170707.4(LMNA):c.1380+14C>T | Charcot-Marie-Tooth disease type 2 [RCV002007383] | likely benign | 1 | 156136450 | 156136450 | Human | 1 | name |
| 152101591 | CV1540225 | deletion | NM_170707.4(LMNA):c.1489-16del | Charcot-Marie-Tooth disease type 2 [RCV002095603] | likely benign | 1 | 156137096 | 156137096 | Human | 1 | name |
| 152109130 | CV1563820 | single nucleotide variant | NM_170707.4(LMNA):c.1609-12T>C | Charcot-Marie-Tooth disease type 2 [RCV002174103]|Primary dilated cardiomyopathy [RCV004808227] | likely benign | 1 | 156137642 | 156137642 | Human | 2 | name |
| 152131369 | CV1568003 | single nucleotide variant | NM_170707.4(LMNA):c.1608+17C>T | Charcot-Marie-Tooth disease type 2 [RCV002218118] | likely benign | 1 | 156137249 | 156137249 | Human | 1 | name |
| 152121157 | CV1574411 | single nucleotide variant | NM_170707.4(LMNA):c.1489-16C>T | Charcot-Marie-Tooth disease type 2 [RCV002175596] | likely benign | 1 | 156137097 | 156137097 | Human | 1 | name |
| 152087047 | CV1578262 | single nucleotide variant | NM_170707.4(LMNA):c.1381-17C>A | Charcot-Marie-Tooth disease type 2 [RCV002171312] | likely benign | 1 | 156136904 | 156136904 | Human | 1 | name |
| 152027313 | CV1626862 | single nucleotide variant | NM_170707.4(LMNA):c.1158-19T>G | Charcot-Marie-Tooth disease type 2 [RCV002185455] | likely benign | 1 | 156136195 | 156136195 | Human | 1 | name |
| 152154848 | CV1658021 | single nucleotide variant | NM_170707.4(LMNA):c.1699-15T>C | Charcot-Marie-Tooth disease type 2 [RCV002179993] | likely benign | 1 | 156138473 | 156138473 | Human | 1 | name |
| 152066287 | CV1659899 | single nucleotide variant | NM_170707.4(LMNA):c.1380+17G>A | Charcot-Marie-Tooth disease type 2 [RCV002147470] | likely benign | 1 | 156136453 | 156136453 | Human | 1 | name |
| 9689215 | CV172350 | single nucleotide variant | NM_170707.4(LMNA):c.1698+25C>T | Cardiomyopathy [RCV001189963]|not provided [RCV004710561]|not specified [RCV000154674] | likely benign|uncertain significance|not provided | 1 | 156137768 | 156137768 | Human | 2 | name |
| 9689275 | CV172488 | single nucleotide variant | NM_170707.4(LMNA):c.1488+14C>T | Cardiovascular 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 car diomyopathy 1A [RCV001098890]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001097152]|Emery-Dreifuss muscular dystrophy [RCV001097150]|Familial partial lipodystrophy, Dunnigan type [RCV001097151]|Hutchinson-Gilford syndrome [RCV001098892]|LMNA-related disorder [RCV004734724]|Lethal tight skin contracture syndrome [RCV001098893]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001097149]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001098889]|not provided [RCV001795278]|not specified [RCV000154749] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156137042 | 156137042 | Human | 15 | name , alternate_id |
| 156377691 | CV1876557 | single nucleotide variant | NM_170707.4(LMNA):c.1158-16G>A | Charcot-Marie-Tooth disease type 2 [RCV003066880] | likely benign | 1 | 156136198 | 156136198 | Human | 1 | name |
| 156412073 | CV1890310 | single nucleotide variant | NM_170707.4(LMNA):c.1489-17C>A | Charcot-Marie-Tooth disease type 2 [RCV003072744] | likely benign | 1 | 156137096 | 156137096 | Human | 1 | name |
| 10046097 | CV189381 | single nucleotide variant | NM_170707.4(LMNA):c.357-739T>G | Hutchinson-Gilford syndrome [RCV000986428]|not provided [RCV004713393]|not specified [RCV000172758] | benign | 1 | 156129878 | 156129878 | Human | 1 | name |
| 156403490 | CV1920082 | single nucleotide variant | NM_170707.4(LMNA):c.1608+16C>T | Charcot-Marie-Tooth disease type 2 [RCV002605906] | likely benign | 1 | 156137248 | 156137248 | Human | 1 | name |
| 156311750 | CV1928512 | single nucleotide variant | NM_170707.4(LMNA):c.1608+14G>A | Charcot-Marie-Tooth disease type 2 [RCV002648210] | likely benign | 1 | 156137246 | 156137246 | Human | 1 | name |
| 156288916 | CV2012985 | single nucleotide variant | NM_170707.4(LMNA):c.1157+12A>G | Charcot-Marie-Tooth disease type 2 [RCV002715572] | likely benign | 1 | 156136133 | 156136133 | Human | 1 | name |
| 156115643 | CV2020724 | single nucleotide variant | NM_170707.4(LMNA):c.1380+13T>C | Charcot-Marie-Tooth disease type 2 [RCV002739999] | likely benign | 1 | 156136449 | 156136449 | Human | 1 | name |
| 155948414 | CV2029103 | single nucleotide variant | NM_170707.4(LMNA):c.1157+16G>T | Charcot-Marie-Tooth disease type 2 [RCV002730541] | likely benign | 1 | 156136137 | 156136137 | Human | 1 | name |
| 156127909 | CV2036418 | single nucleotide variant | NM_170707.4(LMNA):c.1489-17C>T | Charcot-Marie-Tooth disease type 2 [RCV002786053] | likely benign | 1 | 156137096 | 156137096 | Human | 1 | name |
| 156224973 | CV2064254 | single nucleotide variant | NM_170707.4(LMNA):c.1609-19G>A | Charcot-Marie-Tooth disease type 2 [RCV002829833] | uncertain significance | 1 | 156137635 | 156137635 | Human | 1 | name |
| 156075735 | CV2083459 | single nucleotide variant | NM_170707.4(LMNA):c.1699-18C>G | Charcot-Marie-Tooth disease type 2 [RCV002847218] | likely benign | 1 | 156138470 | 156138470 | Human | 1 | name |
| 156261800 | CV2100669 | single nucleotide variant | NM_170707.4(LMNA):c.1158-16G>T | Charcot-Marie-Tooth disease type 2 [RCV002877298] | likely benign | 1 | 156136198 | 156136198 | Human | 1 | name |
| 156348182 | CV2128932 | deletion | NM_170707.4(LMNA):c.1608+15del | Charcot-Marie-Tooth disease type 2 [RCV002966094] | likely benign | 1 | 156137245 | 156137245 | Human | 1 | name |
| 156092988 | CV2151915 | single nucleotide variant | NM_170707.4(LMNA):c.1699-17C>T | Charcot-Marie-Tooth disease type 2 [RCV003020754] | likely benign | 1 | 156138471 | 156138471 | Human | 1 | name |
| 329351476 | CV2476407 | single nucleotide variant | NM_170707.4(LMNA):c.1968+62G>T | not provided [RCV003222639] | likely benign | 1 | 156138819 | 156138819 | Human | | name |
| 11550985 | CV249419 | single nucleotide variant | NM_170707.4(LMNA):c.1158-43A>G | not provided [RCV000830547]|not specified [RCV000252459] | benign|likely benign | 1 | 156136171 | 156136171 | Human | | name |
| 11547170 | CV249420 | single nucleotide variant | NM_170707.4(LMNA):c.1380+37C>T | not specified [RCV000247416] | likely benign | 1 | 156136473 | 156136473 | Human | | name |
| 11550600 | CV249421 | single nucleotide variant | NM_170707.4(LMNA):c.1488+33G>T | not specified [RCV000251971] | likely benign | 1 | 156137061 | 156137061 | Human | | name |
| 401829081 | CV2743586 | single nucleotide variant | NM_170707.4(LMNA):c.1968+80G>T | not provided [RCV003326762] | benign|likely benign | 1 | 156138837 | 156138837 | Human | | name |
| 11583021 | CV277461 | single nucleotide variant | NM_170707.4(LMNA):c.1698+57G>A | Charcot-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 dystroph y [RCV000358640]|Familial partial lipodystrophy, Dunnigan type [RCV000263913]|Hutchinson-Gilford syndrome [RCV000318957]|Lethal tight skin contracture syndrome [RCV000333140]|Limb-girdle muscular dystrophy, recessive [RCV000322274]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000278097]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000373664] | likely benign|uncertain significance | 1 | 156137800 | 156137800 | Human | 12 | name |
| 405083154 | CV2855722 | single nucleotide variant | NM_170707.4(LMNA):c.1969-14G>C | Charcot-Marie-Tooth disease type 2 [RCV003582264] | likely benign | 1 | 156139066 | 156139066 | Human | 1 | name |
| 405084825 | CV2874423 | single nucleotide variant | NM_170707.4(LMNA):c.1158-46G>A | Charcot-Marie-Tooth disease type 2 [RCV003582395] | likely benign | 1 | 156136168 | 156136168 | Human | 1 | name |
| 405075243 | CV2883482 | single nucleotide variant | NM_170707.4(LMNA):c.1969-11T>C | Charcot-Marie-Tooth disease type 2 [RCV003581324] | likely benign | 1 | 156139069 | 156139069 | Human | 1 | name |
| 405071872 | CV2885672 | single nucleotide variant | NM_170707.4(LMNA):c.1609-16T>C | Charcot-Marie-Tooth disease type 2 [RCV003581174] | likely benign | 1 | 156137638 | 156137638 | Human | 1 | name |
| 405083606 | CV2977672 | single nucleotide variant | NM_170707.4(LMNA):c.1157+13G>A | Charcot-Marie-Tooth disease type 2 [RCV003744171] | likely benign | 1 | 156136134 | 156136134 | Human | 1 | name |
| 405086819 | CV2994018 | single nucleotide variant | NM_170707.4(LMNA):c.1488+17T>C | Charcot-Marie-Tooth disease type 2 [RCV003744445] | likely benign | 1 | 156137045 | 156137045 | Human | 1 | name |
| 405086112 | CV2995328 | single nucleotide variant | NM_170707.4(LMNA):c.1380+14C>G | Charcot-Marie-Tooth disease type 2 [RCV003744365] | likely benign | 1 | 156136450 | 156136450 | Human | 1 | name |
| 405079747 | CV3054088 | single nucleotide variant | NM_170707.4(LMNA):c.1157+46C>T | Charcot-Marie-Tooth disease type 2 [RCV003743434] | likely benign | 1 | 156136167 | 156136167 | Human | 1 | name |
| 405080449 | CV3055906 | single nucleotide variant | NM_170707.4(LMNA):c.1157+22G>A | Charcot-Marie-Tooth disease type 2 [RCV003743512] | likely benign | 1 | 156136143 | 156136143 | Human | 1 | name |
| 405209458 | CV3162559 | single nucleotide variant | NM_170707.4(LMNA):c.1157+30G>A | Charcot-Marie-Tooth disease type 2 [RCV003861858] | likely benign | 1 | 156136151 | 156136151 | Human | 1 | name |
| 405242456 | CV3173332 | single nucleotide variant | NM_170707.4(LMNA):c.1968+19G>C | Charcot-Marie-Tooth disease type 2 [RCV003867617] | likely benign | 1 | 156138776 | 156138776 | Human | 1 | name |
| 405704993 | CV3231582 | single nucleotide variant | NM_170707.4(LMNA):c.1381-15C>T | Primary dilated cardiomyopathy [RCV004010125] | likely benign | 1 | 156136906 | 156136906 | Human | 1 | name |
| 12847077 | CV364503 | single nucleotide variant | NM_170707.4(LMNA):c.1157+18C>T | Charcot-Marie-Tooth disease type 2 [RCV002061420]|not provided [RCV004711040]|not specified [RCV000442840] | likely benign | 1 | 156136139 | 156136139 | Human | 1 | name |
| 12842725 | CV364504 | single nucleotide variant | NM_170707.4(LMNA):c.1488+15G>A | Charcot-Marie-Tooth disease type 2 [RCV002521790]|not specified [RCV000434948] | likely benign | 1 | 156137043 | 156137043 | Human | 1 | name |
| 12833039 | CV364522 | single nucleotide variant | NM_170707.4(LMNA):c.1157+19G>A | Charcot-Marie-Tooth disease [RCV001173412]|Charcot-Marie-Tooth disease type 2 [RCV002061584]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002488896]|not provided [RCV001810900]|not specified [RCV000417739] | likely benign | 1 | 156136140 | 156136140 | Human | 4 | name |
| 597844344 | CV3736135 | single nucleotide variant | NM_170707.4(LMNA):c.1158-17G>T | Charcot-Marie-Tooth disease type 2 [RCV005065483] | likely benign | 1 | 156136197 | 156136197 | Human | 1 | name |
| 597964837 | CV3751023 | single nucleotide variant | NM_170707.4(LMNA):c.1609-19G>C | Charcot-Marie-Tooth disease type 2 [RCV005082585] | likely benign | 1 | 156137635 | 156137635 | Human | 1 | name |
| 597949164 | CV3772288 | single nucleotide variant | NM_170707.4(LMNA):c.1381-14T>G | Charcot-Marie-Tooth disease type 2 [RCV005120607] | likely benign | 1 | 156136907 | 156136907 | Human | 1 | name |
| 597926087 | CV3783254 | single nucleotide variant | NM_170707.4(LMNA):c.1157+40T>G | Charcot-Marie-Tooth disease type 2 [RCV005115940] | likely benign | 1 | 156136161 | 156136161 | Human | 1 | name |
| 597855408 | CV3821745 | single nucleotide variant | NM_170707.4(LMNA):c.1488+12G>C | Charcot-Marie-Tooth disease type 2 [RCV005174223] | likely benign | 1 | 156137040 | 156137040 | Human | 1 | name |
| 597861943 | CV3860462 | single nucleotide variant | NM_170707.4(LMNA):c.1157+45C>G | Charcot-Marie-Tooth disease type 2 [RCV005195990] | likely benign | 1 | 156136166 | 156136166 | Human | 1 | name |
| 616936964 | CV4010892 | single nucleotide variant | NM_170707.4(LMNA):c.357-714A>G | not specified [RCV005404239] | likely benign | 1 | 156129903 | 156129903 | Human | | name |
| 13481821 | CV447163 | single nucleotide variant | NM_170707.4(LMNA):c.1608+10C>T | Charcot-Marie-Tooth disease type 2 [RCV000529134]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002483494] | likely benign|uncertain significance | 1 | 156137242 | 156137242 | Human | 3 | name |
| 8569611 | CV45136 | single nucleotide variant | NM_170707.4(LMNA):c.1157+16G>A | Charcot-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 provided | 1 | 156136137 | 156136137 | Human | 3 | name |
| 13516951 | CV491093 | single nucleotide variant | NM_170707.4(LMNA):c.1698+28G>A | not provided [RCV000596153] | uncertain significance | 1 | 156137771 | 156137771 | Human | | name |
| 13536627 | CV498073 | single nucleotide variant | NM_170707.4(LMNA):c.1381-13A>G | Cardiomyopathy [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 benign | 1 | 156136908 | 156136908 | Human | 18 | name |
| 13539977 | CV498076 | single nucleotide variant | NM_170707.4(LMNA):c.1968+12C>G | not specified [RCV000614046] | likely benign | 1 | 156138769 | 156138769 | Human | | name |
| 13832621 | CV586866 | single nucleotide variant | NM_170707.4(LMNA):c.1968+37C>T | Charcot-Marie-Tooth disease type 2 [RCV002067118]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005046993]|not provided [RCV000731456] | likely benign|uncertain significance | 1 | 156138794 | 156138794 | Human | 3 | name |
| 14745833 | CV657048 | single nucleotide variant | NM_170707.4(LMNA):c.356+310T>C | not provided [RCV000843795] | benign | 1 | 156115584 | 156115584 | Human | 1 | name |
| 14722309 | CV657051 | single nucleotide variant | NM_170707.4(LMNA):c.514-197A>C | not provided [RCV000832045] | benign | 1 | 156134206 | 156134206 | Human | | name |
| 14728204 | CV657054 | single nucleotide variant | NM_170707.4(LMNA):c.514-111C>T | not provided [RCV000834675] | benign | 1 | 156134292 | 156134292 | Human | | name |
| 14711254 | CV657066 | single nucleotide variant | NM_170707.4(LMNA):c.937-275A>G | not provided [RCV000827977] | benign | 1 | 156135626 | 156135626 | Human | | name |
| 14714443 | CV657068 | single nucleotide variant | NM_170707.4(LMNA):c.1380+18G>A | Charcot-Marie-Tooth disease type 2 [RCV002062227]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002495199]|not provided [RCV000829041] | likely benign | 1 | 156136454 | 156136454 | Human | 3 | name |
| 14710991 | CV657104 | single nucleotide variant | NM_170707.4(LMNA):c.357-269T>C | not provided [RCV000827889] | benign | 1 | 156130348 | 156130348 | Human | | name |
| 14745185 | CV657105 | single nucleotide variant | NM_170707.4(LMNA):c.936+234C>T | not provided [RCV000843210] | benign | 1 | 156135546 | 156135546 | Human | | name |
| 14722306 | CV657111 | single nucleotide variant | NM_170707.4(LMNA):c.513+175T>C | not provided [RCV000832044] | benign | 1 | 156130948 | 156130948 | Human | | name |
| 14745825 | CV657115 | single nucleotide variant | NM_170707.4(LMNA):c.513+274C>G | not provided [RCV000843787] | benign | 1 | 156131047 | 156131047 | Human | | name |
| 15180006 | CV774395 | single nucleotide variant | NM_170707.4(LMNA):c.1158-10C>T | Charcot-Marie-Tooth disease type 2 [RCV000929780] | likely benign | 1 | 156136204 | 156136204 | Human | 1 | name |
| 8622660 | CV77682 | single nucleotide variant | NM_170707.4(LMNA):c.1158-38G>A | not provided [RCV000057246] | not provided | 1 | 156136176 | 156136176 | Human | | name |
| 8622661 | CV77683 | single nucleotide variant | NM_170707.4(LMNA):c.1158-44C>T | Charcot-Marie-Tooth disease type 2 [RCV000233008]|LMNA-related disorder [RCV004537255]|not provided [RCV000057247]|not specified [RCV000275328] | benign|likely benign|not provided | 1 | 156136170 | 156136170 | Human | 1 | name , alternate_id |
| 8622709 | CV77731 | single nucleotide variant | NM_170707.4(LMNA):c.1489-41C>T | not provided [RCV000057308]|not specified [RCV000243967] | benign|not provided | 1 | 156137072 | 156137072 | Human | | name |
| 8622729 | CV77752 | single nucleotide variant | NM_170707.4(LMNA):c.1609-12T>G | Heart-hand syndrome, Slovenian type [RCV000015618]|Primary dilated cardiomyopathy [RCV005250008]|not provided [RCV000057337] | pathogenic|likely pathogenic|not provided | 1 | 156137642 | 156137642 | Human | 2 | name |
| 8622754 | CV77777 | single nucleotide variant | NM_170707.4(LMNA):c.1968+26A>G | not provided [RCV000057378]|not specified [RCV000508292] | benign|not provided | 1 | 156138783 | 156138783 | Human | | name |
| 28888694 | CV862423 | single nucleotide variant | NM_170707.4(LMNA):c.1698+83G>A | Charcot-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 dystroph y [RCV001101165]|Familial partial lipodystrophy, Dunnigan type [RCV001099174]|Hutchinson-Gilford syndrome [RCV001099171]|Lethal tight skin contracture syndrome [RCV001099170]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001099173]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001099172] | uncertain significance | 1 | 156137826 | 156137826 | Human | 11 | name |
| 34890000 | CV905557 | single nucleotide variant | NM_170707.4(LMNA):c.1157+15C>T | Cardiovascular phenotype [RCV004032951]|Charcot-Marie-Tooth disease [RCV001173406]|Charcot-Marie-Tooth disease type 2 [RCV002067847] | likely benign | 1 | 156136136 | 156136136 | Human | 2 | name |
| 34889586 | CV905558 | single nucleotide variant | NM_170707.4(LMNA):c.1489-16C>G | Charcot-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 benign | 1 | 156137097 | 156137097 | Human | 4 | name |
| 34889999 | CV905560 | duplication | NM_170707.4(LMNA):c.1968+18dup | Charcot-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 benign | 1 | 156138772 | 156138773 | Human | 4 | name |
| 34891633 | CV915106 | single nucleotide variant | NM_170707.4(LMNA):c.1158-12C>G | Cardiomyopathy [RCV001182607]|Cardiovascular phenotype [RCV003380863]|Charcot-Marie-Tooth disease type 2 [RCV002068323] | likely benign | 1 | 156136202 | 156136202 | Human | 3 | name |
| 34894429 | CV915108 | single nucleotide variant | NM_170707.4(LMNA):c.1158-14C>T | Cardiomyopathy [RCV001184602]|Charcot-Marie-Tooth disease type 2 [RCV002559866] | likely benign | 1 | 156136200 | 156136200 | Human | 3 | name |
| 34899392 | CV915174 | single nucleotide variant | NM_170707.4(LMNA):c.1969-11T>G | Cardiomyopathy [RCV001188283] | uncertain significance | 1 | 156139069 | 156139069 | Human | 2 | name |
| 150419662 | CV1196484 | single nucleotide variant | NM_170707.4(LMNA):c.1699-133C>T | not provided [RCV001577275] | likely benign | 1 | 156138355 | 156138355 | Human | | name |
| 150448703 | CV1215015 | single nucleotide variant | NM_170707.4(LMNA):c.1609-108G>A | not provided [RCV001611604] | benign | 1 | 156137546 | 156137546 | Human | | name |
| 150506829 | CV1226441 | single nucleotide variant | NM_170707.4(LMNA):c.1608+143A>G | not provided [RCV001635809] | benign | 1 | 156137375 | 156137375 | Human | | name |
| 150483855 | CV1247020 | single nucleotide variant | NM_170707.4(LMNA):c.357-3431G>A | not provided [RCV001673516] | benign | 1 | 156127186 | 156127186 | Human | | name |
| 150436033 | CV1274117 | single nucleotide variant | NM_170707.4(LMNA):c.357-3717A>G | not provided [RCV001724387]|not specified [RCV001700802] | benign|likely benign | 1 | 156126900 | 156126900 | Human | | name |
| 150472826 | CV1281295 | single nucleotide variant | NM_170707.4(LMNA):c.357-4599C>A | not provided [RCV001713431] | benign | 1 | 156126018 | 156126018 | Human | | name |
| 150540994 | CV1297388 | single nucleotide variant | NM_170707.4(LMNA):c.357-3734G>A | not provided [RCV001767070] | uncertain significance | 1 | 156126883 | 156126883 | Human | | name |
| 8691861 | CV141828 | single nucleotide variant | NM_170707.4(LMNA):c.357-4426G>A | not specified [RCV000126633] | benign | 1 | 156126191 | 156126191 | Human | | name |
| 152038471 | CV1669280 | single nucleotide variant | NM_170707.4(LMNA):c.357-3748C>T | not provided [RCV002224332]|not specified [RCV004700694] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 156126869 | 156126869 | Human | | name |
| 155641327 | CV1709645 | single nucleotide variant | NM_170707.4(LMNA):c.1968+130C>T | not provided [RCV002292745] | uncertain significance | 1 | 156138887 | 156138887 | Human | | name |
| 11523756 | CV244213 | single nucleotide variant | NM_170707.4(LMNA):c.357-4406A>G | not provided [RCV000236483] | uncertain significance | 1 | 156126211 | 156126211 | Human | | name |
| 401933069 | CV2806056 | single nucleotide variant | NM_170707.4(LMNA):c.1969-130C>A | not provided [RCV003409142] | uncertain significance | 1 | 156138950 | 156138950 | Human | | name |
| 401948467 | CV2832580 | single nucleotide variant | NM_170707.4(LMNA):c.357-3669G>A | Familial partial lipodystrophy, Dunnigan type [RCV003448560] | uncertain significance | 1 | 156126948 | 156126948 | Human | 1 | name |
| 405277853 | CV3196151 | single nucleotide variant | NM_170707.4(LMNA):c.357-3720C>T | LMNA-related disorder [RCV004537112] | uncertain significance | 1 | 156126897 | 156126897 | Human | | name , trait , alternate_id |
| 405869475 | CV3396752 | single nucleotide variant | NM_170707.4(LMNA):c.357-3735G>A | Emery-Dreifuss muscular dystrophy 3, autosomal recessive [RCV004566631] | uncertain significance | 1 | 156126882 | 156126882 | Human | 1 | name |
| 408369094 | CV3508375 | single nucleotide variant | NM_170707.4(LMNA):c.357-3820A>T | LMNA-related disorder [RCV004736564] | likely benign | 1 | 156126797 | 156126797 | Human | | name , trait , alternate_id |
| 408368893 | CV3517353 | single nucleotide variant | NM_170707.4(LMNA):c.357-3719G>A | LMNA-related disorder [RCV004736100] | likely benign | 1 | 156126898 | 156126898 | Human | | name , trait , alternate_id |
| 11665231 | CV353062 | single nucleotide variant | NM_170707.4(LMNA):c.1698+124C>T | Charcot-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]|Hut chinson-Gilford syndrome [RCV000260405]|Lethal tight skin contracture syndrome [RCV000317932]|Limb-girdle muscular dystrophy, recessive [RCV000315427]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000346677]|Mandibuloacral dysplasia [RCV000311797] | uncertain significance | 1 | 156137867 | 156137867 | Human | 9 | name |
| 598128144 | CV3883163 | single nucleotide variant | NM_170707.4(LMNA):c.357-4385G>A | not provided [RCV005234696] | likely benign | 1 | 156126232 | 156126232 | Human | | name |
| 616936561 | CV4010487 | single nucleotide variant | NM_170707.4(LMNA):c.357-3723G>A | Cardiovascular phenotype [RCV005403833] | uncertain significance | 1 | 156126894 | 156126894 | Human | | name |
| 14728757 | CV657072 | single nucleotide variant | NM_170707.4(LMNA):c.1608+152A>G | not provided [RCV000834916] | benign | 1 | 156137384 | 156137384 | Human | | name |
| 14710987 | CV657087 | single nucleotide variant | NM_170707.4(LMNA):c.357-4760T>C | not provided [RCV000827888] | benign | 1 | 156125857 | 156125857 | Human | | name |
| 14745824 | CV657090 | single nucleotide variant | NM_170707.4(LMNA):c.357-4696T>C | not provided [RCV000843786] | benign | 1 | 156125921 | 156125921 | Human | | name |
| 14722229 | CV657094 | single nucleotide variant | NM_170707.4(LMNA):c.357-4652C>T | not provided [RCV000832013] | benign | 1 | 156125965 | 156125965 | Human | | name |
| 14722230 | CV657095 | single nucleotide variant | NM_170707.4(LMNA):c.357-4560C>T | not provided [RCV000832014] | benign | 1 | 156126057 | 156126057 | Human | | name |
| 14722298 | CV657096 | single nucleotide variant | NM_170707.4(LMNA):c.357-3991T>G | not provided [RCV000832041]|not specified [RCV005405332] | benign | 1 | 156126626 | 156126626 | Human | | name |
| 14728327 | CV657101 | single nucleotide variant | NM_170707.4(LMNA):c.357-4032G>A | not provided [RCV000834724]|not specified [RCV005405334] | benign | 1 | 156126585 | 156126585 | Human | | name |
| 14722296 | CV657102 | single nucleotide variant | NM_170707.4(LMNA):c.357-4021G>A | not provided [RCV000832040]|not specified [RCV005405331] | benign | 1 | 156126596 | 156126596 | Human | | name |
| 14722303 | CV657110 | single nucleotide variant | NM_170707.4(LMNA):c.357-3489G>A | not provided [RCV000832043] | benign | 1 | 156127128 | 156127128 | Human | | name |
| 14722300 | CV657112 | single nucleotide variant | NM_170707.4(LMNA):c.357-3535T>C | not provided [RCV000832042] | benign | 1 | 156127082 | 156127082 | Human | | name |
| 14745826 | CV657114 | single nucleotide variant | NM_170707.4(LMNA):c.1699-260C>T | not provided [RCV000843788] | benign | 1 | 156138228 | 156138228 | Human | | name |
| 14722310 | CV657120 | single nucleotide variant | NM_170707.4(LMNA):c.1380+142G>A | not provided [RCV000832046] | benign | 1 | 156136578 | 156136578 | Human | | name |
| 14745187 | CV657123 | single nucleotide variant | NM_170707.4(LMNA):c.1699-231T>C | not provided [RCV000843211] | benign | 1 | 156138257 | 156138257 | Human | | name |
| 152980614 | CV1678807 | deletion | NM_170707.4(LMNA):c.*666_*667del | not provided [RCV002247202] | uncertain significance | 1 | 156139772 | 156139773 | Human | | name |
| 150520684 | CV1290558 | insertion | NM_170707.4(LMNA):c.*196_*197insA | not provided [RCV001732249] | benign | 1 | 156139302 | 156139303 | Human | | name |
| 405076947 | CV3016429 | deletion | NM_170707.4(LMNA):c.758_810+70del | Charcot-Marie-Tooth disease type 2 [RCV003743089] | pathogenic | 1 | 156134923 | 156135045 | Human | 1 | name |
| 597901828 | CV3851351 | deletion | NM_170707.4(LMNA):c.640-67_718del | Charcot-Marie-Tooth disease type 2 [RCV005202127] | likely pathogenic | 1 | 156134736 | 156134881 | Human | 1 | name |
| 10407826 | CV172111 | deletion | NM_170707.4(LMNA):c.1700_1968+1del | Hutchinson-Gilford syndrome [RCV000192013] | pathogenic|not provided | 1 | 156138483 | 156138752 | Human | 1 | name |
| 597720712 | CV3726807 | duplication | NM_170707.4(LMNA):c.1699-1_1706dup | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005049888] | uncertain significance | 1 | 156138481 | 156138482 | Human | 2 | name |
| 597883072 | CV3857666 | deletion | NM_170707.4(LMNA):c.357-396_434del | Charcot-Marie-Tooth disease type 2 [RCV005199293] | pathogenic | 1 | 156130221 | 156130694 | Human | 1 | name |
| 13516578 | CV488416 | deletion | NM_170707.4(LMNA):c.1142_1157+1del | Cardiovascular phenotype [RCV002456296]|Charcot-Marie-Tooth disease type 2 [RCV001231259]|not provided [RCV000599189] | pathogenic|likely pathogenic | 1 | 156136104 | 156136120 | Human | 1 | name |
| 13818057 | CV556965 | deletion | NM_170707.4(LMNA):c.810+32_1323del | Charcot-Marie-Tooth disease type 2 [RCV000693456] | pathogenic | 1 | 156135004 | 156136376 | Human | 1 | name |
| 14709258 | CV657092 | microsatellite | NM_170707.4(LMNA):c.357-4646AAT[3] | not provided [RCV000834764] | benign | 1 | 156125971 | 156125973 | Human | | name |
| 38459035 | CV959523 | deletion | NM_170707.4(LMNA):c.356+3_356+6del | Charcot-Marie-Tooth disease type 2 [RCV001229061]|not provided [RCV002265012] | likely pathogenic|uncertain significance | 1 | 156115275 | 156115278 | Human | 1 | name |
| 41408108 | CV980754 | deletion | NM_170707.4(LMNA):c.1158-9_1173del | Proximal muscle weakness [RCV001281579] | likely pathogenic | 1 | 156136202 | 156136226 | Human | 1 | name |
| 127276640 | CV1066294 | single nucleotide variant | NM_170707.4(LMNA):c.21G>C (p.Arg7=) | Charcot-Marie-Tooth disease type 2 [RCV001407234] | likely benign | 1 | 156114939 | 156114939 | Human | 1 | name |
| 127317272 | CV1130450 | single nucleotide variant | NM_170707.4(LMNA):c.12G>C (p.Pro4=) | Charcot-Marie-Tooth disease type 2 [RCV001503343] | likely benign | 1 | 156114930 | 156114930 | Human | 1 | name |
| 156161327 | CV2096891 | duplication | NM_170707.4(LMNA):c.640-11_640-7dup | Charcot-Marie-Tooth disease type 2 [RCV002872671] | likely benign | 1 | 156134791 | 156134792 | Human | 1 | name |
| 405086587 | CV3000282 | duplication | NM_170707.4(LMNA):c.513+6_513+20dup | Charcot-Marie-Tooth disease type 2 [RCV003744426] | likely benign | 1 | 156130778 | 156130779 | Human | 1 | name |
| 405093702 | CV3077515 | single nucleotide variant | NM_170707.4(LMNA):c.21G>A (p.Arg7=) | Charcot-Marie-Tooth disease type 2 [RCV003745271] | likely benign | 1 | 156114939 | 156114939 | Human | 1 | name |
| 408380599 | CV3501214 | single nucleotide variant | NM_170707.4(LMNA):c.24C>T (p.Arg8=) | not provided [RCV004727303] | likely benign | 1 | 156114942 | 156114942 | Human | | name |
| 12836042 | CV364449 | single nucleotide variant | NM_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 specified [RCV000422715] | benign|likely benign | 1 | 156114930 | 156114930 | Human | 19 | name |
| 597735893 | CV3719645 | deletion | NM_170707.4(LMNA):c.5del (p.Glu2fs) | Charcot-Marie-Tooth disease type 2 [RCV005105305]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005051628] | pathogenic | 1 | 156114923 | 156114923 | Human | 3 | name |
| 15159805 | CV685572 | single nucleotide variant | NM_170707.4(LMNA):c.15C>T (p.Ser5=) | Cardiovascular phenotype [RCV004639396]|Charcot-Marie-Tooth disease type 2 [RCV001441179]|Primary dilated cardiomyopathy [RCV004807217] | likely benign | 1 | 156114933 | 156114933 | Human | 2 | name |
| 34896465 | CV906398 | single nucleotide variant | NM_170707.4(LMNA):c.24C>A (p.Arg8=) | Cardiomyopathy [RCV001178467]|Charcot-Marie-Tooth disease type 2 [RCV002068224] | likely benign | 1 | 156114942 | 156114942 | Human | 3 | name |
| 127273132 | CV1058424 | single nucleotide variant | NM_170707.4(LMNA):c.1A>T (p.Met1Leu) | Charcot-Marie-Tooth disease type 2 [RCV001390690] | pathogenic | 1 | 156114919 | 156114919 | Human | 1 | name |
| 127329509 | CV1130451 | single nucleotide variant | NM_170707.4(LMNA):c.90G>A (p.Gln30=) | Charcot-Marie-Tooth disease type 2 [RCV001487448] | likely benign | 1 | 156115008 | 156115008 | Human | 1 | name |
| 151813909 | CV1373301 | single nucleotide variant | NM_170707.4(LMNA):c.7A>G (p.Thr3Ala) | Charcot-Marie-Tooth disease type 2 [RCV001900220]|not provided [RCV003130563] | uncertain significance | 1 | 156114925 | 156114925 | Human | 1 | name |
| 9691200 | CV172880 | deletion | NM_170707.2(LMNA):c.(?_1)_(356_?)del | Primary dilated cardiomyopathy [RCV000156910] | pathogenic | 1 | 156114919 | 156115274 | Human | 1 | name |
| 155704449 | CV1810689 | single nucleotide variant | NM_170707.4(LMNA):c.57T>C (p.Thr19=) | Cardiovascular phenotype [RCV002359878] | likely benign | 1 | 156114975 | 156114975 | Human | | name |
| 155669429 | CV1822075 | single nucleotide variant | NM_170707.4(LMNA):c.66G>A (p.Ser22=) | Cardiovascular phenotype [RCV002367147]|Charcot-Marie-Tooth disease type 2 [RCV005096986] | likely benign | 1 | 156114984 | 156114984 | Human | 1 | name |
| 10056824 | CV196446 | single nucleotide variant | NM_170707.4(LMNA):c.3G>T (p.Met1Ile) | Charcot-Marie-Tooth disease type 2 [RCV002515313]|not provided [RCV000182378] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 1 | 156114921 | 156114921 | Human | 1 | name |
| 11347665 | CV238145 | single nucleotide variant | NM_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 benign | 1 | 156115011 | 156115011 | Human | 4 | name |
| 11523697 | CV244206 | single nucleotide variant | NM_170707.4(LMNA):c.3G>C (p.Met1Ile) | not provided [RCV000236357]|not specified [RCV000678713] | pathogenic|likely pathogenic | 1 | 156114921 | 156114921 | Human | | name |
| 329392321 | CV2470608 | single nucleotide variant | NM_170707.4(LMNA):c.2T>A (p.Met1Lys) | Cardiovascular phenotype [RCV003217711]|not provided [RCV004719317] | pathogenic | 1 | 156114920 | 156114920 | Human | | name |
| 11638176 | CV269995 | deletion | NM_170707.4(LMNA):c.937-22_937-10del | Congenital muscular dystrophy due to LMNA mutation [RCV001255625]|not provided [RCV000298699] | likely pathogenic|uncertain significance | 1 | 156135875 | 156135887 | Human | 1 | name |
| 11639145 | CV270683 | single nucleotide variant | NM_170707.4(LMNA):c.75C>T (p.Arg25=) | Charcot-Marie-Tooth disease type 2 [RCV001452238]|not provided [RCV000316060] | likely benign|uncertain significance | 1 | 156114993 | 156114993 | Human | 1 | name |
| 11641831 | CV272023 | single nucleotide variant | NM_170707.4(LMNA):c.66G>T (p.Ser22=) | not provided [RCV000364039] | uncertain significance | 1 | 156114984 | 156114984 | Human | | name |
| 401862413 | CV2753889 | single nucleotide variant | NM_170707.4(LMNA):c.4G>A (p.Glu2Lys) | Cardiovascular phenotype [RCV003358470] | uncertain significance | 1 | 156114922 | 156114922 | Human | | name |
| 405077856 | CV2887510 | single nucleotide variant | NM_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 benign | 1 | 156114957 | 156114957 | Human | 4 | name |
| 405093297 | CV2925632 | single nucleotide variant | NM_170707.4(LMNA):c.87G>T (p.Leu29=) | Charcot-Marie-Tooth disease type 2 [RCV003583066] | likely benign | 1 | 156115005 | 156115005 | Human | 1 | name |
| 405063067 | CV2934265 | single nucleotide variant | NM_170707.4(LMNA):c.72C>G (p.Thr24=) | Cardiomyopathy [RCV003532549] | likely benign | 1 | 156114990 | 156114990 | Human | 2 | name |
| 405728821 | CV3391194 | single nucleotide variant | NM_170707.4(LMNA):c.1A>G (p.Met1Val) | Cardiovascular phenotype [RCV004524855] | pathogenic | 1 | 156114919 | 156114919 | Human | | name |
| 407509063 | CV3496432 | deletion | NM_170707.4(LMNA):c.1609-3_1609-2del | not provided [RCV004698273] | likely pathogenic | 1 | 156137651 | 156137652 | Human | | name |
| 597722699 | CV3693381 | single nucleotide variant | NM_170707.4(LMNA):c.99G>A (p.Glu33=) | Cardiovascular phenotype [RCV004993753] | likely benign | 1 | 156115017 | 156115017 | Human | | name |
| 597893769 | CV3857128 | single nucleotide variant | NM_170707.4(LMNA):c.36C>T (p.Ser12=) | Charcot-Marie-Tooth disease type 2 [RCV005200991] | likely benign | 1 | 156114954 | 156114954 | Human | 1 | name |
| 8569615 | CV45141 | single nucleotide variant | NM_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 mutat ion [RCV000351657]|Dilated cardiomyopathy 1A [RCV001028068]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002496461]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001098001]|Emery-Dreifuss muscular dystrophy [RCV000355480]|Familial partial lipodystrophy, Dunnigan type [RCV000385116]|Hutchinson-Gilford syndrome [RCV000290770]|Hypertrophic cardiomyopathy 2 [RCV004595890]|Lethal tight skin contracture syndrome [RCV000285289]|Limb-girdle muscular dystrophy, recessive [RCV000265426]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000320485]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000350387]|Primary dilated cardiomyopathy [RCV000030151]|not provided [RCV000057414]|not specified [RCV000041354] | benign|likely benign|not provided | 1 | 156114969 | 156114969 | Human | 23 | name |
| 13509208 | CV481568 | single nucleotide variant | NM_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 pathogenic | 1 | 156114921 | 156114921 | Human | 3 | name |
| 13527231 | CV509108 | single nucleotide variant | NM_170707.4(LMNA):c.42G>A (p.Ala14=) | Cardiomyopathy [RCV003532204]|Cardiovascular phenotype [RCV000619598]|Charcot-Marie-Tooth disease type 2 [RCV001499333] | likely benign | 1 | 156114960 | 156114960 | Human | 3 | name |
| 13625796 | CV515135 | single nucleotide variant | NM_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 benign | 1 | 156115014 | 156115014 | Human | 18 | name |
| 13810505 | CV556669 | single nucleotide variant | NM_170707.4(LMNA):c.4G>T (p.Glu2Ter) | Cardiovascular phenotype [RCV002343440]|Charcot-Marie-Tooth disease type 2 [RCV000688289] | pathogenic | 1 | 156114922 | 156114922 | Human | 1 | name |
| 8610945 | CV57247 | single nucleotide variant | NM_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 significance | 1 | 156114996 | 156114996 | Human | 3 | name |
| 14712178 | CV626901 | duplication | NM_170707.4(LMNA):c.11dup (p.Ser5fs) | Charcot-Marie-Tooth disease type 2 [RCV000793718] | pathogenic | 1 | 156114925 | 156114926 | Human | 1 | name |
| 15123993 | CV695007 | deletion | NM_170707.4(LMNA):c.1699-9_1699-8del | Cardiomyopathy [RCV001179741]|Cardiovascular phenotype [RCV004027848]|Charcot-Marie-Tooth disease type 2 [RCV001409456] | likely benign|uncertain significance | 1 | 156138478 | 156138479 | Human | 3 | name |
| 34890864 | CV905876 | single nucleotide variant | NM_170707.4(LMNA):c.72C>T (p.Thr24=) | Charcot-Marie-Tooth disease type 2 [RCV003744740]|not specified [RCV001174564] | likely benign | 1 | 156114990 | 156114990 | Human | 1 | name |
| 34889890 | CV906397 | single nucleotide variant | NM_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 significance | 1 | 156114926 | 156114926 | Human | 6 | name |
| 38483655 | CV930059 | deletion | NM_170707.4(LMNA):c.13del (p.Ser5fs) | Charcot-Marie-Tooth disease type 2 [RCV001207729] | pathogenic | 1 | 156114931 | 156114931 | Human | 1 | name |
| 38486254 | CV930060 | deletion | NM_170707.4(LMNA):c.16del (p.Gln6fs) | Charcot-Marie-Tooth disease type 2 [RCV001208820] | pathogenic | 1 | 156114932 | 156114932 | Human | 1 | name |
| 126772226 | CV1022657 | single nucleotide variant | NM_170707.4(LMNA):c.22C>G (p.Arg8Gly) | Charcot-Marie-Tooth disease type 2 [RCV001345496] | uncertain significance | 1 | 156114940 | 156114940 | Human | 1 | name |
| 126908348 | CV1039475 | single nucleotide variant | NM_170707.4(LMNA):c.10C>T (p.Pro4Ser) | Charcot-Marie-Tooth disease type 2 [RCV001367763] | uncertain significance | 1 | 156114928 | 156114928 | Human | 1 | name |
| 127290415 | CV1109549 | single nucleotide variant | NM_170707.4(LMNA):c.141C>T (p.Asp47=) | Charcot-Marie-Tooth disease type 2 [RCV001451238] | likely benign | 1 | 156115059 | 156115059 | Human | 1 | name |
| 127301260 | CV1109550 | single nucleotide variant | NM_170707.4(LMNA):c.189C>A (p.Ile63=) | Charcot-Marie-Tooth disease type 2 [RCV001461350] | likely benign | 1 | 156115107 | 156115107 | Human | 1 | name |
| 150544717 | CV1313526 | deletion | NM_170707.4(LMNA):c.65del (p.Ser22fs) | not provided [RCV001783604] | pathogenic | 1 | 156114983 | 156114983 | Human | | name |
| 151791957 | CV1398589 | single nucleotide variant | NM_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 significance | 1 | 156114929 | 156114929 | Human | 16 | name |
| 151773530 | CV1402849 | single nucleotide variant | NM_170707.4(LMNA):c.11C>T (p.Pro4Leu) | Charcot-Marie-Tooth disease type 2 [RCV001896572]|Primary dilated cardiomyopathy [RCV004010788] | uncertain significance | 1 | 156114929 | 156114929 | Human | 2 | name |
| 151871591 | CV1429730 | single nucleotide variant | NM_170707.4(LMNA):c.19C>T (p.Arg7Trp) | Charcot-Marie-Tooth disease type 2 [RCV002019020] | uncertain significance | 1 | 156114937 | 156114937 | Human | 1 | name |
| 151721041 | CV1491648 | single nucleotide variant | NM_170707.4(LMNA):c.22C>T (p.Arg8Cys) | Charcot-Marie-Tooth disease type 2 [RCV002003671] | uncertain significance | 1 | 156114940 | 156114940 | Human | 1 | name |
| 152086692 | CV1531799 | single nucleotide variant | NM_170707.4(LMNA):c.243C>T (p.Tyr81=) | Charcot-Marie-Tooth disease type 2 [RCV002077079] | likely benign | 1 | 156115161 | 156115161 | Human | 1 | name |
| 152121985 | CV1562591 | single nucleotide variant | NM_170707.4(LMNA):c.147G>A (p.Val49=) | Charcot-Marie-Tooth disease type 2 [RCV002098281] | likely benign | 1 | 156115065 | 156115065 | Human | 1 | name |
| 152151435 | CV1631400 | single nucleotide variant | NM_170707.4(LMNA):c.132C>T (p.Val44=) | Cardiovascular phenotype [RCV005370149]|Charcot-Marie-Tooth disease type 2 [RCV002179511] | likely benign | 1 | 156115050 | 156115050 | Human | 1 | name |
| 152028171 | CV1642682 | single nucleotide variant | NM_170707.4(LMNA):c.249C>G (p.Ala83=) | Charcot-Marie-Tooth disease type 2 [RCV002185747] | likely benign | 1 | 156115167 | 156115167 | Human | 1 | name |
| 155264950 | CV1704500 | single nucleotide variant | NM_170707.4(LMNA):c.10C>G (p.Pro4Ala) | Charcot-Marie-Tooth disease type 2 [RCV003101634]|not provided [RCV002284716] | uncertain significance | 1 | 156114928 | 156114928 | Human | 1 | name |
| 155683225 | CV1830198 | single nucleotide variant | NM_170707.4(LMNA):c.103C>T (p.Leu35=) | Cardiovascular phenotype [RCV002389609]|Charcot-Marie-Tooth disease type 2 [RCV005097546] | likely benign | 1 | 156115021 | 156115021 | Human | 1 | name |
| 156049999 | CV1868968 | single nucleotide variant | NM_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 significance | 1 | 156114943 | 156114943 | Human | 4 | name |
| 10047549 | CV190480 | deletion | NM_170707.4(LMNA):c.48del (p.Ser17fs) | not provided [RCV000173379] | pathogenic | 1 | 156114965 | 156114965 | Human | | name |
| 156415128 | CV1983197 | single nucleotide variant | NM_170707.4(LMNA):c.207G>A (p.Val69=) | Cardiomyopathy [RCV003533286]|Charcot-Marie-Tooth disease type 2 [RCV002609524]|Primary dilated cardiomyopathy [RCV004007512] | likely benign | 1 | 156115125 | 156115125 | Human | 4 | name |
| 156332485 | CV2061450 | single nucleotide variant | NM_170707.4(LMNA):c.22C>A (p.Arg8Ser) | Charcot-Marie-Tooth disease type 2 [RCV002810761] | uncertain significance | 1 | 156114940 | 156114940 | Human | 1 | name |
| 156074511 | CV2102137 | single nucleotide variant | NM_170707.4(LMNA):c.124T>C (p.Leu42=) | Charcot-Marie-Tooth disease type 2 [RCV002912492] | likely benign | 1 | 156115042 | 156115042 | Human | 1 | name |
| 156333061 | CV2171999 | single nucleotide variant | NM_170707.4(LMNA):c.25G>C (p.Ala9Pro) | Charcot-Marie-Tooth disease type 2 [RCV003029877] | uncertain significance | 1 | 156114943 | 156114943 | Human | 1 | name |
| 243062332 | CV2404745 | deletion | NM_170707.4(LMNA):c.91del (p.Glu31fs) | Congenital muscular dystrophy due to LMNA mutation [RCV003140302] | uncertain significance | 1 | 156115008 | 156115008 | Human | 1 | name |
| 11547536 | CV257922 | single nucleotide variant | NM_170707.4(LMNA):c.111G>A (p.Glu37=) | Cardiomyopathy [RCV003532072]|Cardiovascular phenotype [RCV000247889]|Primary dilated cardiomyopathy [RCV003999033]|not provided [RCV000726524] | likely benign|uncertain significance | 1 | 156115029 | 156115029 | Human | 3 | name |
| 11549564 | CV257929 | single nucleotide variant | NM_170707.4(LMNA):c.207G>C (p.Val69=) | Cardiovascular phenotype [RCV000250582] | likely benign | 1 | 156115125 | 156115125 | Human | | name |
| 11640939 | CV267009 | single nucleotide variant | NM_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 significance | 1 | 156115110 | 156115110 | Human | 4 | name |
| 11645970 | CV277537 | single nucleotide variant | NM_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 dystroph y [RCV000364211]|Familial partial lipodystrophy, Dunnigan type [RCV000338865]|Hutchinson-Gilford syndrome [RCV000297999]|Lethal tight skin contracture syndrome [RCV000358456]|Limb-girdle muscular dystrophy, recessive [RCV000407235]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000304893]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000303772]|Primary dilated cardiomyopathy [RCV003231435]|not provided [RCV001718593] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156115212 | 156115212 | Human | 13 | name |
| 405085917 | CV2868212 | single nucleotide variant | NM_170707.4(LMNA):c.195G>A (p.Glu65=) | Charcot-Marie-Tooth disease type 2 [RCV003582457] | likely benign | 1 | 156115113 | 156115113 | Human | 1 | name |
| 405093326 | CV2921977 | single nucleotide variant | NM_170707.4(LMNA):c.297C>T (p.Arg99=) | Charcot-Marie-Tooth disease type 2 [RCV003583068] | likely benign | 1 | 156115215 | 156115215 | Human | 1 | name |
| 405093116 | CV2942841 | single nucleotide variant | NM_170707.4(LMNA):c.175C>T (p.Leu59=) | Charcot-Marie-Tooth disease type 2 [RCV003745618] | likely benign | 1 | 156115093 | 156115093 | Human | 1 | name |
| 8564259 | CV29516 | single nucleotide variant | NM_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 provided | 1 | 156114934 | 156114934 | Human | 2 | name |
| 405095705 | CV2958586 | single nucleotide variant | NM_170707.4(LMNA):c.129G>C (p.Ala43=) | Charcot-Marie-Tooth disease type 2 [RCV003745853] | likely benign | 1 | 156115047 | 156115047 | Human | 1 | name |
| 405087909 | CV3015658 | deletion | NM_170707.4(LMNA):c.40del (p.Ala14fs) | Charcot-Marie-Tooth disease type 2 [RCV003744526] | pathogenic | 1 | 156114955 | 156114955 | Human | 1 | name |
| 405075867 | CV3021407 | single nucleotide variant | NM_170707.4(LMNA):c.102C>T (p.Asp34=) | Charcot-Marie-Tooth disease type 2 [RCV003743145] | likely benign | 1 | 156115020 | 156115020 | Human | 1 | name |
| 405081959 | CV3056932 | single nucleotide variant | NM_170707.4(LMNA):c.282A>G (p.Ser94=) | Cardiovascular phenotype [RCV004992765]|Charcot-Marie-Tooth disease type 2 [RCV003743540] | likely benign | 1 | 156115200 | 156115200 | Human | 1 | name |
| 405089112 | CV3064030 | single nucleotide variant | NM_170707.4(LMNA):c.204G>A (p.Glu68=) | Charcot-Marie-Tooth disease type 2 [RCV003745052] | likely benign | 1 | 156115122 | 156115122 | Human | 1 | name |
| 405091418 | CV3071763 | single nucleotide variant | NM_170707.4(LMNA):c.210C>A (p.Val70=) | Charcot-Marie-Tooth disease type 2 [RCV003745231] | likely benign | 1 | 156115128 | 156115128 | Human | 1 | name |
| 405711660 | CV3231726 | single nucleotide variant | NM_170707.4(LMNA):c.174G>T (p.Gly58=) | Cardiovascular phenotype [RCV004994416]|Primary dilated cardiomyopathy [RCV004011756] | likely benign|uncertain significance | 1 | 156115092 | 156115092 | Human | 1 | name |
| 405715504 | CV3232394 | single nucleotide variant | NM_170707.4(LMNA):c.189C>T (p.Ile63=) | Primary dilated cardiomyopathy [RCV004012247] | likely benign | 1 | 156115107 | 156115107 | Human | 1 | name |
| 405702677 | CV3233463 | single nucleotide variant | NM_170707.4(LMNA):c.273C>A (p.Thr91=) | Primary dilated cardiomyopathy [RCV004009919] | likely benign | 1 | 156115191 | 156115191 | Human | 1 | name |
| 596928413 | CV3540185 | duplication | NM_170707.4(LMNA):c.75dup (p.Ile26fs) | not provided [RCV004791178] | likely pathogenic | 1 | 156114992 | 156114993 | Human | | name |
| 596941196 | CV3546136 | single nucleotide variant | NM_170707.4(LMNA):c.126G>A (p.Leu42=) | Primary dilated cardiomyopathy [RCV004806765] | likely benign | 1 | 156115044 | 156115044 | Human | 1 | name |
| 597722660 | CV3693373 | single nucleotide variant | NM_170707.4(LMNA):c.264C>T (p.Ala88=) | Cardiovascular phenotype [RCV004993745] | likely benign | 1 | 156115182 | 156115182 | Human | | name |
| 597722669 | CV3693375 | single nucleotide variant | NM_170707.4(LMNA):c.231C>A (p.Ile77=) | Cardiovascular phenotype [RCV004993747] | likely benign | 1 | 156115149 | 156115149 | Human | | name |
| 597722675 | CV3693376 | single nucleotide variant | NM_170707.4(LMNA):c.285A>G (p.Val95=) | Cardiovascular phenotype [RCV004993748] | likely benign | 1 | 156115203 | 156115203 | Human | | name |
| 597722676 | CV3693377 | single nucleotide variant | NM_170707.4(LMNA):c.105G>A (p.Leu35=) | Cardiovascular phenotype [RCV004993749] | likely benign | 1 | 156115023 | 156115023 | Human | | name |
| 597722685 | CV3693378 | single nucleotide variant | NM_170707.4(LMNA):c.150C>G (p.Arg50=) | Cardiovascular phenotype [RCV004993750] | likely benign | 1 | 156115068 | 156115068 | Human | | name |
| 597722689 | CV3693379 | single nucleotide variant | NM_170707.4(LMNA):c.168C>T (p.Asn56=) | Cardiovascular phenotype [RCV004993751] | likely benign | 1 | 156115086 | 156115086 | Human | | name |
| 597722694 | CV3693380 | single nucleotide variant | NM_170707.4(LMNA):c.120T>C (p.Asp40=) | Cardiovascular phenotype [RCV004993752] | likely benign | 1 | 156115038 | 156115038 | Human | | name |
| 597722705 | CV3693382 | single nucleotide variant | NM_170707.4(LMNA):c.201A>G (p.Glu67=) | Cardiovascular phenotype [RCV004993754] | likely benign | 1 | 156115119 | 156115119 | Human | | name |
| 597722709 | CV3701638 | single nucleotide variant | NM_170707.4(LMNA):c.225C>T (p.Ser75=) | Cardiovascular phenotype [RCV004993755] | likely benign | 1 | 156115143 | 156115143 | Human | | name |
| 597722713 | CV3701639 | single nucleotide variant | NM_170707.4(LMNA):c.129G>T (p.Ala43=) | Cardiovascular phenotype [RCV004993756] | likely benign | 1 | 156115047 | 156115047 | Human | | name |
| 597722719 | CV3701640 | single nucleotide variant | NM_170707.4(LMNA):c.255C>G (p.Leu85=) | Cardiovascular phenotype [RCV004993757] | likely benign | 1 | 156115173 | 156115173 | Human | | name |
| 12891620 | CV390818 | single nucleotide variant | NM_170707.4(LMNA):c.20G>A (p.Arg7Gln) | Cardiomyopathy [RCV001181379]|Charcot-Marie-Tooth disease type 2 [RCV000476932]|not specified [RCV001823729] | uncertain significance | 1 | 156114938 | 156114938 | Human | 3 | name |
| 616934556 | CV4009636 | single nucleotide variant | NM_170707.4(LMNA):c.105G>C (p.Leu35=) | Cardiomyopathy [RCV005400794] | likely benign | 1 | 156115023 | 156115023 | Human | 2 | name |
| 616934768 | CV4009962 | single nucleotide variant | NM_170707.4(LMNA):c.129G>A (p.Ala43=) | Cardiomyopathy [RCV005401120] | likely benign | 1 | 156115047 | 156115047 | Human | 2 | name |
| 616935631 | CV4010220 | single nucleotide variant | NM_170707.4(LMNA):c.213C>T (p.Ser71=) | Cardiomyopathy [RCV005403521] | likely benign | 1 | 156115131 | 156115131 | Human | 2 | name |
| 13541950 | CV498064 | single nucleotide variant | NM_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 benign | 1 | 156115071 | 156115071 | Human | 18 | name |
| 13625792 | CV515136 | single nucleotide variant | NM_170707.4(LMNA):c.138C>T (p.Ile46=) | Cardiovascular phenotype [RCV002388147]|Charcot-Marie-Tooth disease type 2 [RCV000653981]|not provided [RCV000994131] | likely benign | 1 | 156115056 | 156115056 | Human | 1 | name |
| 13821372 | CV556671 | deletion | NM_170707.4(LMNA):c.73del (p.Arg25fs) | Charcot-Marie-Tooth disease type 2 [RCV000695793] | pathogenic | 1 | 156114989 | 156114989 | Human | 1 | name |
| 8610905 | CV57204 | single nucleotide variant | NM_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 benign | 1 | 156115068 | 156115068 | Human | 4 | name |
| 8610922 | CV57221 | single nucleotide variant | NM_170707.4(LMNA):c.198T>C (p.Ser66=) | not specified [RCV000041339] | likely benign | 1 | 156115116 | 156115116 | Human | | name |
| 8610923 | CV57222 | single nucleotide variant | NM_170707.4(LMNA):c.261T>C (p.Asp87=) | Charcot-Marie-Tooth disease type 2 [RCV002054810]|not specified [RCV000041341] | likely benign | 1 | 156115179 | 156115179 | Human | 1 | name |
| 14692664 | CV616005 | single nucleotide variant | NM_170707.4(LMNA):c.249C>T (p.Ala83=) | Cardiomyopathy [RCV000774239]|Charcot-Marie-Tooth disease type 2 [RCV001422093]|Primary dilated cardiomyopathy [RCV004001371] | likely benign | 1 | 156115167 | 156115167 | Human | 4 | name |
| 14711560 | CV655044 | single nucleotide variant | NM_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 benign | 1 | 156115158 | 156115158 | Human | 2 | name |
| 8622670 | CV77692 | single nucleotide variant | NM_170707.4(LMNA):c.11C>G (p.Pro4Arg) | Charcot-Marie-Tooth disease type 2 [RCV000818990]|not provided [RCV000057257] | pathogenic|not provided | 1 | 156114929 | 156114929 | Human | 1 | name |
| 8654990 | CV77784 | duplication | NM_170707.4(LMNA):c.28dup (p.Thr10fs) | not provided [RCV000057386] | not provided | 1 | 156114945 | 156114946 | Human | | name |
| 8622763 | CV77787 | deletion | NM_170707.4(LMNA):c.31del (p.Arg11fs) | not provided [RCV000057389] | not provided | 1 | 156114947 | 156114947 | Human | | name |
| 26903217 | CV822789 | single nucleotide variant | NM_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 significance | 1 | 156114941 | 156114941 | Human | 18 | name |
| 34892772 | CV906400 | single nucleotide variant | NM_170707.4(LMNA):c.162G>A (p.Thr54=) | Cardiomyopathy [RCV001176007]|Charcot-Marie-Tooth disease type 2 [RCV003744742] | likely benign | 1 | 156115080 | 156115080 | Human | 3 | name |
| 34897392 | CV906401 | single nucleotide variant | NM_170707.4(LMNA):c.165G>A (p.Glu55=) | Cardiomyopathy [RCV001186429] | likely benign | 1 | 156115083 | 156115083 | Human | 2 | name |
| 34893426 | CV906405 | single nucleotide variant | NM_170707.4(LMNA):c.237C>T (p.Ala79=) | Cardiomyopathy [RCV001183831] | likely benign | 1 | 156115155 | 156115155 | Human | 2 | name |
| 34895667 | CV906406 | single nucleotide variant | NM_170707.4(LMNA):c.273C>T (p.Thr91=) | Cardiomyopathy [RCV001185448]|Charcot-Marie-Tooth disease type 2 [RCV001396397] | likely benign | 1 | 156115191 | 156115191 | Human | 3 | name |
| 126733256 | CV1002170 | single nucleotide variant | NM_170707.4(LMNA):c.32G>T (p.Arg11Leu) | Charcot-Marie-Tooth disease type 2 [RCV001313361] | uncertain significance | 1 | 156114950 | 156114950 | Human | 1 | name |
| 126763679 | CV1022658 | single nucleotide variant | NM_170707.4(LMNA):c.44A>C (p.Gln15Pro) | Charcot-Marie-Tooth disease type 2 [RCV001341373]|Primary dilated cardiomyopathy [RCV004808019] | uncertain significance | 1 | 156114962 | 156114962 | Human | 2 | name |
| 127247805 | CV1058425 | duplication | NM_170707.4(LMNA):c.186dup (p.Ile63fs) | Charcot-Marie-Tooth disease type 2 [RCV001384798] | pathogenic | 1 | 156115103 | 156115104 | Human | 1 | name |
| 127238609 | CV1066296 | single nucleotide variant | NM_170707.4(LMNA):c.495G>T (p.Leu165=) | Charcot-Marie-Tooth disease type 2 [RCV001397356] | likely benign | 1 | 156130755 | 156130755 | Human | 1 | name |
| 127267955 | CV1088037 | single nucleotide variant | NM_170707.4(LMNA):c.366G>A (p.Lys122=) | Cardiovascular phenotype [RCV002456730]|Charcot-Marie-Tooth disease type 2 [RCV001440657] | likely benign | 1 | 156130626 | 156130626 | Human | 1 | name |
| 127312372 | CV1109551 | single nucleotide variant | NM_170707.4(LMNA):c.435G>A (p.Glu145=) | Charcot-Marie-Tooth disease type 2 [RCV001464373]|not specified [RCV001823774] | likely benign | 1 | 156130695 | 156130695 | Human | 1 | name |
| 127295873 | CV1130452 | single nucleotide variant | NM_170707.4(LMNA):c.354G>A (p.Ala118=) | Charcot-Marie-Tooth disease type 2 [RCV001497356] | likely benign | 1 | 156115272 | 156115272 | Human | 1 | name |
| 127286624 | CV1130454 | single nucleotide variant | NM_170707.4(LMNA):c.472C>T (p.Leu158=) | Charcot-Marie-Tooth disease type 2 [RCV001494477] | likely benign | 1 | 156130732 | 156130732 | Human | 1 | name |
| 127308807 | CV1130455 | single nucleotide variant | NM_170707.4(LMNA):c.570G>C (p.Arg190=) | Charcot-Marie-Tooth disease type 2 [RCV001480696] | likely benign | 1 | 156134459 | 156134459 | Human | 1 | name |
| 127302165 | CV1130456 | single nucleotide variant | NM_170707.4(LMNA):c.750C>T (p.Ala250=) | Cardiovascular phenotype [RCV002388541]|Charcot-Marie-Tooth disease type 2 [RCV001499026] | likely benign | 1 | 156134915 | 156134915 | Human | 1 | name |
| 127323623 | CV1160081 | single nucleotide variant | NM_170707.4(LMNA):c.927C>T (p.Leu309=) | Cardiomyopathy [RCV001524156]|Charcot-Marie-Tooth disease type 2 [RCV002070303]|Primary dilated cardiomyopathy [RCV004007261] | likely benign | 1 | 156135303 | 156135303 | Human | 4 | name |
| 150334251 | CV1164065 | single nucleotide variant | NM_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 significance | 1 | 156114989 | 156114989 | Human | 16 | name |
| 150432338 | CV1246258 | single nucleotide variant | NM_170707.4(LMNA):c.41C>A (p.Ala14Glu) | not provided [RCV001663671] | uncertain significance | 1 | 156114959 | 156114959 | Human | | name |
| 150487802 | CV1274266 | single nucleotide variant | NM_170707.4(LMNA):c.876G>A (p.Leu292=) | Charcot-Marie-Tooth disease type 2 [RCV005094889]|not provided [RCV001699935]|not specified [RCV001699639] | benign|likely benign | 1 | 156135252 | 156135252 | Human | 1 | name |
| 151350000 | CV1322915 | single nucleotide variant | NM_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 benign | 1 | 156134495 | 156134495 | Human | 4 | name |
| 151782458 | CV1342008 | single nucleotide variant | NM_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 benign | 1 | 156134429 | 156134429 | Human | 16 | name |
| 151790919 | CV1394430 | single nucleotide variant | NM_170707.4(LMNA):c.936G>A (p.Gln312=) | Charcot-Marie-Tooth disease type 2 [RCV002047096] | uncertain significance | 1 | 156135312 | 156135312 | Human | 1 | name |
| 8691862 | CV141829 | single nucleotide variant | NM_005572.3(LMNA):c.747G>A (p.Arg249=) | not provided [RCV000126635] | benign | 1 | 156134912 | 156134912 | Human | | name |
| 151762605 | CV1471332 | single nucleotide variant | NM_170707.4(LMNA):c.43C>T (p.Gln15Ter) | Charcot-Marie-Tooth disease type 2 [RCV001949326] | pathogenic | 1 | 156114961 | 156114961 | Human | 1 | name |
| 151740203 | CV1474867 | single nucleotide variant | NM_170707.4(LMNA):c.88C>G (p.Gln30Glu) | Charcot-Marie-Tooth disease type 2 [RCV001968068] | uncertain significance | 1 | 156115006 | 156115006 | Human | 1 | name |
| 151739273 | CV1492295 | single nucleotide variant | NM_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 significance | 1 | 156114965 | 156114965 | Human | 16 | name |
| 152135843 | CV1528375 | single nucleotide variant | NM_170707.4(LMNA):c.852G>C (p.Leu284=) | Cardiovascular phenotype [RCV004045790]|Charcot-Marie-Tooth disease type 2 [RCV002100104] | likely benign | 1 | 156135228 | 156135228 | Human | 1 | name |
| 152153876 | CV1539910 | single nucleotide variant | NM_170707.4(LMNA):c.379C>T (p.Leu127=) | Cardiomyopathy [RCV003533135]|Charcot-Marie-Tooth disease type 2 [RCV002139919] | likely benign|uncertain significance | 1 | 156130639 | 156130639 | Human | 3 | name |
| 152150996 | CV1567573 | single nucleotide variant | NM_170707.4(LMNA):c.774G>A (p.Gln258=) | Cardiomyopathy [RCV003533124]|Cardiovascular phenotype [RCV002409541]|Charcot-Marie-Tooth disease type 2 [RCV002158189] | likely benign | 1 | 156134939 | 156134939 | Human | 3 | name |
| 152070981 | CV1570192 | single nucleotide variant | NM_170707.4(LMNA):c.699G>A (p.Lys233=) | Charcot-Marie-Tooth disease type 2 [RCV002191776] | likely benign | 1 | 156134864 | 156134864 | Human | 1 | name |
| 152079845 | CV1579929 | single nucleotide variant | NM_170707.4(LMNA):c.966C>T (p.Asp322=) | Charcot-Marie-Tooth disease type 2 [RCV002076222] | likely benign | 1 | 156135930 | 156135930 | Human | 1 | name |
| 152080507 | CV1620745 | single nucleotide variant | NM_170707.4(LMNA):c.967C>T (p.Leu323=) | Charcot-Marie-Tooth disease type 2 [RCV002112686]|LMNA-related disorder [RCV004543792] | likely benign | 1 | 156135931 | 156135931 | Human | 1 | name , alternate_id |
| 152027232 | CV1626823 | single nucleotide variant | NM_170707.4(LMNA):c.423G>A (p.Leu141=) | Charcot-Marie-Tooth disease type 2 [RCV002185426] | likely benign | 1 | 156130683 | 156130683 | Human | 1 | name |
| 152115604 | CV1640043 | single nucleotide variant | NM_170707.4(LMNA):c.375T>C (p.Gly125=) | Cardiomyopathy [RCV003533110]|Charcot-Marie-Tooth disease type 2 [RCV002080847] | likely benign | 1 | 156130635 | 156130635 | Human | 3 | name |
| 152028299 | CV1642732 | single nucleotide variant | NM_170707.4(LMNA):c.687T>C (p.Ile229=) | Charcot-Marie-Tooth disease type 2 [RCV002185789] | likely benign | 1 | 156134852 | 156134852 | Human | 1 | name |
| 152173033 | CV1652866 | single nucleotide variant | NM_170707.4(LMNA):c.609A>G (p.Glu203=) | Charcot-Marie-Tooth disease type 2 [RCV002143978] | likely benign | 1 | 156134498 | 156134498 | Human | 1 | name |
| 9691770 | CV172343 | single nucleotide variant | NM_170707.4(LMNA):c.486G>A (p.Leu162=) | Cardiomyopathy [RCV001188346]|Charcot-Marie-Tooth disease [RCV001173411]|Primary dilated cardiomyopathy [RCV003998205]|not specified [RCV000150938] | likely benign | 1 | 156130746 | 156130746 | Human | 4 | name |
| 9690991 | CV172485 | single nucleotide variant | NM_170707.4(LMNA):c.837G>A (p.Glu279=) | Cardiomyopathy [RCV001188633]|Charcot-Marie-Tooth disease type 2 [RCV001465034]|not specified [RCV000156690] | likely benign | 1 | 156135213 | 156135213 | Human | 3 | name |
| 155702006 | CV1776924 | single nucleotide variant | NM_170707.4(LMNA):c.76A>G (p.Ile26Val) | Charcot-Marie-Tooth disease type 2 [RCV002300019] | uncertain significance | 1 | 156114994 | 156114994 | Human | 1 | name |
| 155736289 | CV1798661 | single nucleotide variant | NM_170707.4(LMNA):c.468C>T (p.Arg156=) | Cardiovascular phenotype [RCV002330560] | likely benign | 1 | 156130728 | 156130728 | Human | | name |
| 155722450 | CV1817635 | single nucleotide variant | NM_170707.4(LMNA):c.873G>A (p.Glu291=) | Cardiovascular phenotype [RCV002449754]|Charcot-Marie-Tooth disease type 2 [RCV003744027] | likely benign | 1 | 156135249 | 156135249 | Human | 1 | name |
| 155694573 | CV1821363 | single nucleotide variant | NM_170707.4(LMNA):c.945C>G (p.Ala315=) | Cardiovascular phenotype [RCV002443471] | likely benign | 1 | 156135909 | 156135909 | Human | | name |
| 155694598 | CV1821371 | single nucleotide variant | NM_170707.4(LMNA):c.945C>T (p.Ala315=) | Cardiovascular phenotype [RCV002443477]|Charcot-Marie-Tooth disease type 2 [RCV003094814] | likely benign | 1 | 156135909 | 156135909 | Human | 1 | name |
| 155742642 | CV1823840 | single nucleotide variant | NM_170707.4(LMNA):c.807C>T (p.Ala269=) | Cardiovascular phenotype [RCV002412483]|Primary dilated cardiomyopathy [RCV004005763] | likely benign | 1 | 156134972 | 156134972 | Human | 1 | name |
| 155698867 | CV1824480 | single nucleotide variant | NM_170707.4(LMNA):c.888C>T (p.Arg296=) | Cardiovascular phenotype [RCV002375996]|Charcot-Marie-Tooth disease type 2 [RCV003100048] | likely benign | 1 | 156135264 | 156135264 | Human | 1 | name |
| 155684002 | CV1825261 | single nucleotide variant | NM_170707.4(LMNA):c.930G>A (p.Gln310=) | Cardiomyopathy [RCV005401971]|Cardiovascular phenotype [RCV002371573] | likely benign | 1 | 156135306 | 156135306 | Human | 2 | name |
| 155801833 | CV1864144 | single nucleotide variant | NM_170707.4(LMNA):c.807C>G (p.Ala269=) | Primary dilated cardiomyopathy [RCV004007474]|not provided [RCV002475097] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 156134972 | 156134972 | Human | 1 | name |
| 156301370 | CV1902100 | single nucleotide variant | NM_170707.4(LMNA):c.597C>T (p.Thr199=) | Charcot-Marie-Tooth disease type 2 [RCV003087944] | likely benign | 1 | 156134486 | 156134486 | Human | 1 | name |
| 156043272 | CV1914702 | single nucleotide variant | NM_170707.4(LMNA):c.564G>A (p.Leu188=) | Charcot-Marie-Tooth disease type 2 [RCV002620343]|Primary dilated cardiomyopathy [RCV004009478] | likely benign | 1 | 156134453 | 156134453 | Human | 2 | name |
| 10052160 | CV194416 | single nucleotide variant | NM_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 significance | 1 | 156134808 | 156134808 | Human | 4 | name |
| 10056825 | CV196447 | single nucleotide variant | NM_170707.4(LMNA):c.64T>G (p.Ser22Ala) | not provided [RCV000182379] | likely pathogenic|conflicting interpretations of pathogenicity | 1 | 156114982 | 156114982 | Human | | name |
| 10056826 | CV196448 | single nucleotide variant | NM_170707.4(LMNA):c.77T>C (p.Ile26Thr) | Cardiovascular phenotype [RCV004992063]|not provided [RCV000182380] | likely pathogenic|uncertain significance | 1 | 156114995 | 156114995 | Human | | name |
| 10056811 | CV196463 | single nucleotide variant | NM_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 1 A [RCV001099964]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001099966]|Emery-Dreifuss muscular dystrophy [RCV001101971]|Familial partial lipodystrophy, Dunnigan type [RCV001099969]|Hutchinson-Gilford syndrome [RCV001099963]|Lethal tight skin contracture syndrome [RCV001099968]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001099965]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001099967]|not provided [RCV000727266]|not specified [RCV000182358] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156130731 | 156130731 | Human | 16 | name |
| 10056816 | CV196470 | single nucleotide variant | NM_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 significance | 1 | 156134933 | 156134933 | Human | 16 | name |
| 156288560 | CV1964774 | single nucleotide variant | NM_170707.4(LMNA):c.40G>A (p.Ala14Thr) | Charcot-Marie-Tooth disease type 2 [RCV002577738] | uncertain significance | 1 | 156114958 | 156114958 | Human | 1 | name |
| 156347138 | CV1995326 | single nucleotide variant | NM_170707.4(LMNA):c.28A>C (p.Thr10Pro) | Charcot-Marie-Tooth disease type 2 [RCV002650630] | likely pathogenic | 1 | 156114946 | 156114946 | Human | 1 | name |
| 156025521 | CV2078050 | single nucleotide variant | NM_170707.4(LMNA):c.744G>C (p.Leu248=) | Charcot-Marie-Tooth disease type 2 [RCV002866818] | likely benign | 1 | 156134909 | 156134909 | Human | 1 | name |
| 155911910 | CV2085018 | single nucleotide variant | NM_170707.4(LMNA):c.678G>T (p.Leu226=) | Charcot-Marie-Tooth disease type 2 [RCV002858557] | likely benign | 1 | 156134843 | 156134843 | Human | 1 | name |
| 156243850 | CV2086106 | single nucleotide variant | NM_170707.4(LMNA):c.312G>C (p.Leu104=) | Charcot-Marie-Tooth disease type 2 [RCV002876694] | likely benign | 1 | 156115230 | 156115230 | Human | 1 | name |
| 156128443 | CV2104328 | single nucleotide variant | NM_170707.4(LMNA):c.696G>C (p.Gly232=) | Charcot-Marie-Tooth disease type 2 [RCV002914457] | likely benign | 1 | 156134861 | 156134861 | Human | 1 | name |
| 156096702 | CV2110650 | single nucleotide variant | NM_170707.4(LMNA):c.97G>C (p.Glu33Gln) | Charcot-Marie-Tooth disease type 2 [RCV002926889] | uncertain significance | 1 | 156115015 | 156115015 | Human | 1 | name |
| 10448435 | CV214482 | single nucleotide variant | NM_170707.4(LMNA):c.80C>G (p.Thr27Ser) | Charcot-Marie-Tooth disease type 2 [RCV002517317]|Paroxysmal familial ventricular fibrillation [RCV000201884] | uncertain significance | 1 | 156114998 | 156114998 | Human | 2 | name |
| 155932162 | CV2156784 | single nucleotide variant | NM_170707.4(LMNA):c.378C>T (p.Asp126=) | Charcot-Marie-Tooth disease type 2 [RCV003013694] | likely benign | 1 | 156130638 | 156130638 | Human | 1 | name |
| 156303722 | CV2187787 | single nucleotide variant | NM_170707.4(LMNA):c.645G>A (p.Leu215=) | Charcot-Marie-Tooth disease type 2 [RCV003062084] | likely benign | 1 | 156134810 | 156134810 | Human | 1 | name |
| 156331995 | CV2188104 | deletion | NM_170707.4(LMNA):c.205del (p.Val69fs) | Charcot-Marie-Tooth disease type 2 [RCV003063750] | pathogenic | 1 | 156115122 | 156115122 | Human | 1 | name |
| 11060030 | CV226866 | single nucleotide variant | NM_170707.4(LMNA):c.82C>G (p.Arg28Gly) | Inborn genetic diseases [RCV000210645] | likely pathogenic | 1 | 156115000 | 156115000 | Human | 1 | name |
| 11088327 | CV228272 | single nucleotide variant | NM_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 significance | 1 | 156115264 | 156115264 | Human | 4 | name |
| 243062374 | CV2404746 | single nucleotide variant | NM_170707.4(LMNA):c.89A>C (p.Gln30Pro) | Congenital muscular dystrophy due to LMNA mutation [RCV003140303] | uncertain significance | 1 | 156115007 | 156115007 | Human | 1 | name |
| 11523598 | CV244207 | single nucleotide variant | NM_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 significance | 1 | 156114992 | 156114992 | Human | 18 | name |
| 11544634 | CV257936 | single nucleotide variant | NM_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 benign | 1 | 156135303 | 156135303 | Human | 18 | name |
| 11640808 | CV265812 | single nucleotide variant | NM_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 significance | 1 | 156134891 | 156134891 | Human | 4 | name |
| 401829050 | CV2668630 | single nucleotide variant | NM_170707.4(LMNA):c.95A>C (p.Lys32Thr) | Congenital muscular dystrophy due to LMNA mutation [RCV003326722] | pathogenic | 1 | 156115013 | 156115013 | Human | 1 | name |
| 11642690 | CV269705 | single nucleotide variant | NM_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 significance | 1 | 156115001 | 156115001 | Human | 2 | name |
| 11643493 | CV269962 | single nucleotide variant | NM_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 significance | 1 | 156130758 | 156130758 | Human | 1 | name |
| 401718752 | CV2730929 | single nucleotide variant | NM_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 significance | 1 | 156114949 | 156114949 | Human | 1 | name , alternate_id |
| 11639574 | CV273191 | single nucleotide variant | NM_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 significance | 1 | 156134480 | 156134480 | Human | 4 | name |
| 11637023 | CV274945 | single nucleotide variant | NM_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 significance | 1 | 156134897 | 156134897 | Human | 4 | name |
| 401933068 | CV2806055 | single nucleotide variant | NM_170707.4(LMNA):c.528A>G (p.Leu176=) | not provided [RCV003409141] | likely benign | 1 | 156134417 | 156134417 | Human | | name |
| 404978759 | CV2852226 | single nucleotide variant | NM_170707.4(LMNA):c.957G>A (p.Lys319=) | Cardiomyopathy [RCV003487232] | likely benign | 1 | 156135921 | 156135921 | Human | 2 | name |
| 405084039 | CV2856618 | single nucleotide variant | NM_170707.4(LMNA):c.852G>T (p.Leu284=) | Charcot-Marie-Tooth disease type 2 [RCV003582333] | likely benign | 1 | 156135228 | 156135228 | Human | 1 | name |
| 405083132 | CV2859414 | single nucleotide variant | NM_170707.4(LMNA):c.504G>A (p.Gln168=) | Cardiovascular phenotype [RCV004992627]|Charcot-Marie-Tooth disease type 2 [RCV003582262] | likely benign | 1 | 156130764 | 156130764 | Human | 1 | name |
| 405079968 | CV2863655 | single nucleotide variant | NM_170707.4(LMNA):c.582G>A (p.Glu194=) | Charcot-Marie-Tooth disease type 2 [RCV003581948] | likely benign | 1 | 156134471 | 156134471 | Human | 1 | name |
| 405085341 | CV2874138 | single nucleotide variant | NM_170707.4(LMNA):c.516T>A (p.Leu172=) | Charcot-Marie-Tooth disease type 2 [RCV003582356] | uncertain significance | 1 | 156134405 | 156134405 | Human | 1 | name |
| 405073939 | CV2887018 | single nucleotide variant | NM_170707.4(LMNA):c.894C>T (p.Arg298=) | Charcot-Marie-Tooth disease type 2 [RCV003581317] | likely benign | 1 | 156135270 | 156135270 | Human | 1 | name |
| 405075033 | CV2894287 | single nucleotide variant | NM_170707.4(LMNA):c.304C>T (p.Leu102=) | Charcot-Marie-Tooth disease type 2 [RCV003581391] | likely benign | 1 | 156115222 | 156115222 | Human | 1 | name |
| 405091925 | CV2909640 | single nucleotide variant | NM_170707.4(LMNA):c.756T>C (p.His252=) | Charcot-Marie-Tooth disease type 2 [RCV003582926] | likely benign | 1 | 156134921 | 156134921 | Human | 1 | name |
| 405092216 | CV2909921 | single nucleotide variant | NM_170707.4(LMNA):c.74G>A (p.Arg25His) | Charcot-Marie-Tooth disease type 2 [RCV003582949] | likely pathogenic | 1 | 156114992 | 156114992 | Human | 1 | name |
| 405063078 | CV2934266 | single nucleotide variant | NM_170707.4(LMNA):c.76A>C (p.Ile26Leu) | Cardiomyopathy [RCV003532550] | uncertain significance | 1 | 156114994 | 156114994 | Human | 2 | name |
| 405063084 | CV2934267 | single nucleotide variant | NM_170707.4(LMNA):c.336G>A (p.Glu112=) | Cardiomyopathy [RCV003532551] | likely benign | 1 | 156115254 | 156115254 | Human | 2 | name |
| 405063126 | CV2934272 | single nucleotide variant | NM_170707.4(LMNA):c.900C>T (p.Asp300=) | Cardiomyopathy [RCV003532556] | likely benign | 1 | 156135276 | 156135276 | Human | 2 | name |
| 405093505 | CV2943847 | single nucleotide variant | NM_170707.4(LMNA):c.570G>A (p.Arg190=) | Charcot-Marie-Tooth disease type 2 [RCV003745651] | likely benign | 1 | 156134459 | 156134459 | Human | 1 | name |
| 405095936 | CV2950364 | single nucleotide variant | NM_170707.4(LMNA):c.507G>A (p.Val169=) | Charcot-Marie-Tooth disease type 2 [RCV003745797]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005047727] | uncertain significance | 1 | 156130767 | 156130767 | Human | 3 | name |
| 405081988 | CV2975731 | deletion | NM_170707.4(LMNA):c.274del (p.Asp93fs) | Charcot-Marie-Tooth disease type 2 [RCV003744060] | pathogenic | 1 | 156115190 | 156115190 | Human | 1 | name |
| 405083708 | CV2984813 | single nucleotide variant | NM_170707.4(LMNA):c.409C>T (p.Leu137=) | Charcot-Marie-Tooth disease type 2 [RCV003744179]|not provided [RCV004765932] | likely benign|uncertain significance | 1 | 156130669 | 156130669 | Human | 1 | name |
| 405086144 | CV2991706 | single nucleotide variant | NM_170707.4(LMNA):c.610C>T (p.Leu204=) | Charcot-Marie-Tooth disease type 2 [RCV003744368] | likely benign | 1 | 156134499 | 156134499 | Human | 1 | name |
| 405086473 | CV2993173 | microsatellite | NM_170707.4(LMNA):c.1969-18_1969-16del | Charcot-Marie-Tooth disease type 2 [RCV003744417] | likely benign | 1 | 156139059 | 156139061 | Human | | name |
| 405088316 | CV3004161 | single nucleotide variant | NM_170707.4(LMNA):c.47C>T (p.Ala16Val) | Charcot-Marie-Tooth disease type 2 [RCV003744450] | uncertain significance | 1 | 156114965 | 156114965 | Human | 1 | name |
| 405086933 | CV3011404 | single nucleotide variant | NM_170707.4(LMNA):c.786G>A (p.Glu262=) | Charcot-Marie-Tooth disease type 2 [RCV003744454] | likely benign | 1 | 156134951 | 156134951 | Human | 1 | name |
| 405076719 | CV3026023 | duplication | NM_170707.4(LMNA):c.241dup (p.Tyr81fs) | Charcot-Marie-Tooth disease type 2 [RCV003743200] | pathogenic | 1 | 156115158 | 156115159 | Human | 1 | name |
| 405078461 | CV3040883 | single nucleotide variant | NM_170707.4(LMNA):c.318G>C (p.Leu106=) | Charcot-Marie-Tooth disease type 2 [RCV003743316] | likely benign | 1 | 156115236 | 156115236 | Human | 1 | name |
| 405091136 | CV3079424 | single nucleotide variant | NM_170707.4(LMNA):c.531T>C (p.Gly177=) | Charcot-Marie-Tooth disease type 2 [RCV003745210] | likely benign | 1 | 156134420 | 156134420 | Human | 1 | name |
| 405020586 | CV3139162 | single nucleotide variant | NM_170707.4(LMNA):c.55A>T (p.Thr19Ser) | Charcot-Marie-Tooth disease type 2 [RCV003829804] | uncertain significance | 1 | 156114973 | 156114973 | Human | 1 | name |
| 405236218 | CV3166442 | single nucleotide variant | NM_170707.4(LMNA):c.996C>T (p.Asp332=) | Charcot-Marie-Tooth disease type 2 [RCV003853891] | likely benign | 1 | 156135960 | 156135960 | Human | 1 | name |
| 405213003 | CV3169763 | single nucleotide variant | NM_170707.4(LMNA):c.645G>C (p.Leu215=) | Cardiovascular phenotype [RCV004369571]|Charcot-Marie-Tooth disease type 2 [RCV003862362] | likely benign | 1 | 156134810 | 156134810 | Human | 1 | name |
| 405254390 | CV3175106 | single nucleotide variant | NM_170707.4(LMNA):c.615C>T (p.Asp205=) | Charcot-Marie-Tooth disease type 2 [RCV003871558]|Primary dilated cardiomyopathy [RCV004006165] | likely benign | 1 | 156134504 | 156134504 | Human | 2 | name |
| 405656728 | CV3227954 | deletion | NM_170707.4(LMNA):c.174del (p.Leu59fs) | Primary dilated cardiomyopathy [RCV003994696] | pathogenic | 1 | 156115090 | 156115090 | Human | 1 | name |
| 405738986 | CV3228842 | single nucleotide variant | NM_170707.4(LMNA):c.58C>T (p.Pro20Ser) | Cardiovascular phenotype [RCV004994419]|Primary dilated cardiomyopathy [RCV004014763] | uncertain significance | 1 | 156114976 | 156114976 | Human | 1 | name |
| 405740332 | CV3229216 | single nucleotide variant | NM_170707.4(LMNA):c.562C>T (p.Leu188=) | Primary dilated cardiomyopathy [RCV004014959] | likely benign | 1 | 156134451 | 156134451 | Human | 1 | name |
| 405723204 | CV3230289 | single nucleotide variant | NM_170707.4(LMNA):c.777T>C (p.Tyr259=) | Primary dilated cardiomyopathy [RCV004013041] | likely benign | 1 | 156134942 | 156134942 | Human | 1 | name |
| 405736047 | CV3230646 | single nucleotide variant | NM_170707.4(LMNA):c.306G>A (p.Leu102=) | Charcot-Marie-Tooth disease type 2 [RCV005103243]|Primary dilated cardiomyopathy [RCV004014392] | likely benign | 1 | 156115224 | 156115224 | Human | 2 | name |
| 405754004 | CV3232475 | single nucleotide variant | NM_170707.4(LMNA):c.46G>T (p.Ala16Ser) | Primary dilated cardiomyopathy [RCV004016610] | uncertain significance | 1 | 156114964 | 156114964 | Human | 1 | name |
| 596941209 | CV3546139 | single nucleotide variant | NM_170707.4(LMNA):c.565C>A (p.Arg189=) | Primary dilated cardiomyopathy [RCV004806768] | likely benign | 1 | 156134454 | 156134454 | Human | 1 | name |
| 12837347 | CV364520 | single nucleotide variant | NM_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 benign | 1 | 156135912 | 156135912 | Human | 3 | name |
| 597722732 | CV3701644 | single nucleotide variant | NM_170707.4(LMNA):c.330T>A (p.Arg110=) | Cardiovascular phenotype [RCV004993760] | likely benign | 1 | 156115248 | 156115248 | Human | | name |
| 597722737 | CV3701645 | single nucleotide variant | NM_170707.4(LMNA):c.492T>C (p.Asp164=) | Cardiovascular phenotype [RCV004993761] | likely benign | 1 | 156130752 | 156130752 | Human | | name |
| 597722743 | CV3701646 | single nucleotide variant | NM_170707.4(LMNA):c.501C>G (p.Gly167=) | Cardiovascular phenotype [RCV004993762] | likely benign | 1 | 156130761 | 156130761 | Human | | name |
| 597653027 | CV3719774 | single nucleotide variant | NM_170707.4(LMNA):c.41C>T (p.Ala14Val) | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005041310] | uncertain significance | 1 | 156114959 | 156114959 | Human | 2 | name |
| 597653294 | CV3719797 | single nucleotide variant | NM_170707.4(LMNA):c.64T>C (p.Ser22Pro) | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005041342] | uncertain significance | 1 | 156114982 | 156114982 | Human | 2 | name |
| 597921590 | CV3738402 | single nucleotide variant | NM_170707.4(LMNA):c.28A>T (p.Thr10Ser) | Charcot-Marie-Tooth disease type 2 [RCV005074809] | likely pathogenic | 1 | 156114946 | 156114946 | Human | 1 | name |
| 597852650 | CV3747081 | single nucleotide variant | NM_170707.4(LMNA):c.882G>A (p.Gln294=) | Charcot-Marie-Tooth disease type 2 [RCV005060710] | likely benign | 1 | 156135258 | 156135258 | Human | 1 | name |
| 597938748 | CV3759980 | single nucleotide variant | NM_170707.4(LMNA):c.393G>A (p.Gln131=) | Charcot-Marie-Tooth disease type 2 [RCV005076902] | likely benign | 1 | 156130653 | 156130653 | Human | 1 | name |
| 597910454 | CV3770377 | single nucleotide variant | NM_170707.4(LMNA):c.29C>G (p.Thr10Ser) | Charcot-Marie-Tooth disease type 2 [RCV005113678] | likely pathogenic | 1 | 156114947 | 156114947 | Human | 1 | name |
| 597910460 | CV3770378 | single nucleotide variant | NM_170707.4(LMNA):c.44A>G (p.Gln15Arg) | Charcot-Marie-Tooth disease type 2 [RCV005113679] | uncertain significance | 1 | 156114962 | 156114962 | Human | 1 | name |
| 597928489 | CV3779743 | deletion | NM_170707.4(LMNA):c.208del (p.Val70fs) | Charcot-Marie-Tooth disease type 2 [RCV005116272] | pathogenic | 1 | 156115125 | 156115125 | Human | 1 | name |
| 597883781 | CV3784310 | single nucleotide variant | NM_170707.4(LMNA):c.441A>T (p.Ala147=) | Charcot-Marie-Tooth disease type 2 [RCV005124598] | likely benign | 1 | 156130701 | 156130701 | Human | 1 | name |
| 597975846 | CV3795960 | single nucleotide variant | NM_170707.4(LMNA):c.381G>C (p.Leu127=) | Charcot-Marie-Tooth disease type 2 [RCV005144791] | likely benign | 1 | 156130641 | 156130641 | Human | 1 | name |
| 597954970 | CV3809374 | single nucleotide variant | NM_170707.4(LMNA):c.525C>T (p.Ala175=) | Charcot-Marie-Tooth disease type 2 [RCV005162098] | likely benign | 1 | 156134414 | 156134414 | Human | 1 | name |
| 597888749 | CV3839484 | single nucleotide variant | NM_170707.4(LMNA):c.85C>A (p.Leu29Met) | Charcot-Marie-Tooth disease type 2 [RCV005179376] | uncertain significance | 1 | 156115003 | 156115003 | Human | 1 | name |
| 597899839 | CV3850854 | single nucleotide variant | NM_170707.4(LMNA):c.384A>T (p.Ile128=) | Charcot-Marie-Tooth disease type 2 [RCV005201838] | likely benign | 1 | 156130644 | 156130644 | Human | 1 | name |
| 597938558 | CV3852858 | duplication | NM_170707.4(LMNA):c.282dup (p.Val95fs) | Charcot-Marie-Tooth disease type 2 [RCV005187259] | pathogenic | 1 | 156115199 | 156115200 | Human | 1 | name |
| 597915859 | CV3860922 | single nucleotide variant | NM_170707.4(LMNA):c.891C>T (p.Ile297=) | Charcot-Marie-Tooth disease type 2 [RCV005204285] | likely benign | 1 | 156135267 | 156135267 | Human | 1 | name |
| 12886895 | CV390813 | single nucleotide variant | NM_170707.4(LMNA):c.711T>C (p.Phe237=) | Cardiovascular phenotype [RCV002367595]|Charcot-Marie-Tooth disease type 2 [RCV001481809] | likely benign | 1 | 156134876 | 156134876 | Human | 1 | name |
| 12883611 | CV390829 | single nucleotide variant | NM_170707.4(LMNA):c.681G>A (p.Val227=) | Charcot-Marie-Tooth disease type 2 [RCV001455501]|not specified [RCV005404609] | likely benign | 1 | 156134846 | 156134846 | Human | 1 | name |
| 616934662 | CV4009801 | single nucleotide variant | NM_170707.4(LMNA):c.306G>C (p.Leu102=) | Cardiomyopathy [RCV005400959] | likely benign | 1 | 156115224 | 156115224 | Human | 2 | name |
| 616937358 | CV4010999 | single nucleotide variant | NM_170707.4(LMNA):c.906C>T (p.Leu302=) | not specified [RCV005404843] | likely benign | 1 | 156135282 | 156135282 | Human | | name |
| 13482605 | CV447227 | single nucleotide variant | NM_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 pathogenic | 1 | 156115012 | 156115012 | Human | 2 | name |
| 13498378 | CV447231 | single nucleotide variant | NM_170707.4(LMNA):c.771G>A (p.Glu257=) | Cardiovascular phenotype [RCV002404568]|Charcot-Marie-Tooth disease type 2 [RCV001493413]|Primary dilated cardiomyopathy [RCV003999470] | likely benign | 1 | 156134936 | 156134936 | Human | 2 | name |
| 13480829 | CV447240 | single nucleotide variant | NM_170707.4(LMNA):c.477G>A (p.Glu159=) | Cardiovascular phenotype [RCV002341465]|Charcot-Marie-Tooth disease type 2 [RCV001432751] | likely benign | 1 | 156130737 | 156130737 | Human | 1 | name |
| 13486847 | CV447243 | single nucleotide variant | NM_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 significance | 1 | 156135246 | 156135246 | Human | 4 | name |
| 13464666 | CV447254 | single nucleotide variant | NM_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 pathogenicity | 1 | 156135273 | 156135273 | Human | 4 | name |
| 13494446 | CV447317 | single nucleotide variant | NM_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 benign | 1 | 156135954 | 156135954 | Human | 3 | name |
| 13518522 | CV486016 | single nucleotide variant | NM_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 significance | 1 | 156135243 | 156135243 | Human | 4 | name , alternate_id |
| 13519723 | CV490436 | single nucleotide variant | NM_170707.4(LMNA):c.483G>A (p.Glu161=) | Cardiovascular phenotype [RCV002341521]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002483600]|not provided [RCV000598095] | likely benign|uncertain significance | 1 | 156130743 | 156130743 | Human | 15 | name |
| 13520060 | CV490807 | single nucleotide variant | NM_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 significance | 1 | 156134417 | 156134417 | Human | 4 | name |
| 13541965 | CV498067 | single nucleotide variant | NM_170707.4(LMNA):c.657G>A (p.Lys219=) | Cardiovascular phenotype [RCV002368042]|not specified [RCV000616882] | likely benign | 1 | 156134822 | 156134822 | Human | | name |
| 13538466 | CV498071 | single nucleotide variant | NM_170707.4(LMNA):c.526C>T (p.Leu176=) | Charcot-Marie-Tooth disease type 2 [RCV001440390]|not specified [RCV000611876] | likely benign | 1 | 156134415 | 156134415 | Human | 1 | name |
| 13533485 | CV509112 | single nucleotide variant | NM_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 significance | 1 | 156130740 | 156130740 | Human | 4 | name |
| 13528917 | CV509114 | single nucleotide variant | NM_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 benign | 1 | 156134468 | 156134468 | Human | 5 | name |
| 13533310 | CV509116 | single nucleotide variant | NM_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 benign | 1 | 156134894 | 156134894 | Human | 4 | name |
| 13529144 | CV513494 | single nucleotide variant | NM_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 significance | 1 | 156114977 | 156114977 | Human | 2 | name |
| 13821187 | CV556955 | single nucleotide variant | NM_170707.4(LMNA):c.91G>A (p.Glu31Lys) | Charcot-Marie-Tooth disease type 2 [RCV000695532]|not provided [RCV003456423] | pathogenic | 1 | 156115009 | 156115009 | Human | 1 | name |
| 8610926 | CV57226 | single nucleotide variant | NM_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 mutat ion [RCV001101879]|Dilated cardiomyopathy 1A [RCV001101878]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001096445]|Emery-Dreifuss muscular dystrophy [RCV000148598]|Familial partial lipodystrophy, Dunnigan type [RCV001096443]|Hutchinson-Gilford syndrome [RCV001096446]|LMNA-related disorder [RCV004528231]|Lethal tight skin contracture syndrome [RCV001096444]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001101881]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001096447]|Primary dilated cardiomyopathy [RCV000211467]|not provided [RCV000057395]|not specified [RCV000041345] | pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided | 1 | 156130617 | 156130617 | Human | 17 | name , alternate_id |
| 8610930 | CV57230 | single nucleotide variant | NM_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 submitters | 1 | 156130698 | 156130698 | Human | 4 | name , alternate_id |
| 8610934 | CV57235 | single nucleotide variant | NM_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 mutat ion [RCV000379768]|Dilated cardiomyopathy 1A [RCV000390872]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001096564]|Emery-Dreifuss muscular dystrophy [RCV000403709]|Familial partial lipodystrophy, Dunnigan type [RCV000346784]|Hutchinson-Gilford syndrome [RCV000285363]|Lethal tight skin contracture syndrome [RCV000344918]|Limb-girdle muscular dystrophy, recessive [RCV000371234]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000311894]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000291863]|Primary dilated cardiomyopathy [RCV003996464]|not provided [RCV000057430]|not specified [RCV000041356] | likely pathogenic|benign|likely benign|not provided | 1 | 156134501 | 156134501 | Human | 18 | name |
| 8610944 | CV57246 | single nucleotide variant | NM_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 significance | 1 | 156134954 | 156134954 | Human | 4 | name |
| 8610950 | CV57252 | single nucleotide variant | NM_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 mutat ion [RCV000332471]|Dilated cardiomyopathy 1A [RCV000303946]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001102163]|Emery-Dreifuss muscular dystrophy [RCV000335802]|Familial partial lipodystrophy, Dunnigan type [RCV000389150]|Hutchinson-Gilford syndrome [RCV000281700]|Lethal tight skin contracture syndrome [RCV000278366]|Limb-girdle muscular dystrophy, recessive [RCV000385848]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000339029]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000374142]|Primary dilated cardiomyopathy [RCV003125877]|not provided [RCV000057475]|not specified [RCV000041374] | benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided | 1 | 156135237 | 156135237 | Human | 18 | name |
| 8610956 | CV57258 | single nucleotide variant | NM_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 significance | 1 | 156135918 | 156135918 | Human | 2 | name |
| 13810277 | CV576411 | single nucleotide variant | NM_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 [R CV000712226] | likely pathogenic|uncertain significance | 1 | 156114983 | 156114983 | Human | 18 | name |
| 14692153 | CV616007 | single nucleotide variant | NM_170707.4(LMNA):c.969G>A (p.Leu323=) | Cardiomyopathy [RCV000773421]|Charcot-Marie-Tooth disease type 2 [RCV002067266] | likely benign | 1 | 156135933 | 156135933 | Human | 3 | name |
| 14725840 | CV626902 | single nucleotide variant | NM_170707.4(LMNA):c.71C>G (p.Thr24Ser) | Cardiomyopathy [RCV003532266]|Cardiovascular phenotype [RCV002370101]|Charcot-Marie-Tooth disease type 2 [RCV000798982] | uncertain significance | 1 | 156114989 | 156114989 | Human | 3 | name |
| 14718637 | CV626903 | single nucleotide variant | NM_170707.4(LMNA):c.94A>T (p.Lys32Ter) | Charcot-Marie-Tooth disease type 2 [RCV000812291]|Dilated cardiomyopathy 1A [RCV004789213] | pathogenic | 1 | 156115012 | 156115012 | Human | 3 | name |
| 14728493 | CV626910 | single nucleotide variant | NM_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 significance | 1 | 156134462 | 156134462 | Human | 2 | name |
| 14977180 | CV677482 | deletion | NM_170707.4(LMNA):c.1157+23_1158-45del | LMNA-associated condition [RCV000850629] | likely pathogenic | 1 | 156136142 | 156136167 | Human | | name |
| 28881792 | CV682590 | single nucleotide variant | NM_170707.4(LMNA):c.58C>A (p.Pro20Thr) | Hypertrophic cardiomyopathy [RCV001093543] | likely pathogenic | 1 | 156114976 | 156114976 | Human | 1 | name |
| 15139146 | CV685573 | single nucleotide variant | NM_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 benign | 1 | 156135261 | 156135261 | Human | 4 | name |
| 15156050 | CV685574 | single nucleotide variant | NM_170707.4(LMNA):c.951G>A (p.Glu317=) | Charcot-Marie-Tooth disease type 2 [RCV001417843]|LMNA-related disorder [RCV004538266] | likely benign | 1 | 156135915 | 156135915 | Human | 1 | name , alternate_id |
| 15124023 | CV690376 | single nucleotide variant | NM_170707.4(LMNA):c.852G>A (p.Leu284=) | Charcot-Marie-Tooth disease type 2 [RCV001442109] | likely benign | 1 | 156135228 | 156135228 | Human | 1 | name |
| 15123797 | CV745732 | single nucleotide variant | NM_170707.4(LMNA):c.339T>C (p.Phe113=) | Cardiovascular phenotype [RCV004994109]|Charcot-Marie-Tooth disease type 2 [RCV001436785] | likely benign | 1 | 156115257 | 156115257 | Human | 1 | name |
| 15200919 | CV745733 | single nucleotide variant | NM_170707.4(LMNA):c.496C>A (p.Arg166=) | Charcot-Marie-Tooth disease type 2 [RCV001436333] | likely benign | 1 | 156130756 | 156130756 | Human | 1 | name |
| 15133783 | CV745734 | single nucleotide variant | NM_170707.4(LMNA):c.822C>G (p.Ala274=) | Charcot-Marie-Tooth disease type 2 [RCV000920575]|Primary dilated cardiomyopathy [RCV004003185] | likely benign | 1 | 156135198 | 156135198 | Human | 2 | name |
| 15107115 | CV761249 | single nucleotide variant | NM_170707.4(LMNA):c.372G>A (p.Glu124=) | Cardiovascular phenotype [RCV003363020]|Charcot-Marie-Tooth disease type 2 [RCV001405568] | likely benign | 1 | 156130632 | 156130632 | Human | 1 | name |
| 15116320 | CV761250 | single nucleotide variant | NM_170707.4(LMNA):c.909T>A (p.Ser303=) | Charcot-Marie-Tooth disease type 2 [RCV001451208] | likely benign | 1 | 156135285 | 156135285 | Human | 1 | name |
| 8622761 | CV77785 | single nucleotide variant | NM_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 provided | 1 | 156114947 | 156114947 | Human | 6 | name |
| 8622775 | CV77799 | single nucleotide variant | NM_170707.4(LMNA):c.513G>A (p.Lys171=) | Charcot-Marie-Tooth disease type 2 [RCV001231297]|not provided [RCV000057412] | likely pathogenic|not provided | 1 | 156130773 | 156130773 | Human | 1 | name |
| 8622799 | CV77823 | single nucleotide variant | NM_170707.4(LMNA):c.723G>A (p.Leu241=) | not provided [RCV000057447] | not provided | 1 | 156134888 | 156134888 | Human | | name |
| 8622801 | CV77825 | single nucleotide variant | NM_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 provided | 1 | 156114991 | 156114991 | Human | 3 | name |
| 8622802 | CV77826 | single nucleotide variant | NM_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 provided | 1 | 156114991 | 156114991 | Human | 4 | name |
| 8622805 | CV77829 | single nucleotide variant | NM_170707.4(LMNA):c.74G>C (p.Arg25Pro) | Charcot-Marie-Tooth disease type 2 [RCV002513740]|not provided [RCV000057454] | likely pathogenic|not provided | 1 | 156114992 | 156114992 | Human | 1 | name |
| 8622815 | CV77839 | single nucleotide variant | NM_170707.4(LMNA):c.810G>A (p.Lys270=) | Charcot-Marie-Tooth disease type 2 [RCV005089471]|not provided [RCV000057468] | uncertain significance|not provided | 1 | 156134975 | 156134975 | Human | 1 | name |
| 8622819 | CV77843 | single nucleotide variant | NM_170707.4(LMNA):c.82C>T (p.Arg28Trp) | Charcot-Marie-Tooth disease type 2 [RCV000653924]|not provided [RCV000057473] | pathogenic|not provided | 1 | 156115000 | 156115000 | Human | 1 | name |
| 8622835 | CV77859 | single nucleotide variant | NM_170707.4(LMNA):c.98A>G (p.Glu33Gly) | Charcot-Marie-Tooth disease type 2 [RCV002513742]|not provided [RCV000057495] | pathogenic|not provided | 1 | 156115016 | 156115016 | Human | 1 | name |
| 8622837 | CV77861 | single nucleotide variant | NM_170707.4(LMNA):c.99G>C (p.Glu33Asp) | not provided [RCV000057497] | likely pathogenic|not provided | 1 | 156115017 | 156115017 | Human | | name |
| 8622838 | CV77862 | single nucleotide variant | NM_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 provided | 1 | 156115017 | 156115017 | Human | 2 | name |
| 21069316 | CV792654 | single nucleotide variant | NM_170707.4(LMNA):c.80C>T (p.Thr27Ile) | Charcot-Marie-Tooth disease type 2 [RCV005092985]|Dilated cardiomyopathy 1A [RCV000991275] | likely pathogenic | 1 | 156114998 | 156114998 | Human | 3 | name |
| 26887248 | CV822791 | deletion | NM_170707.4(LMNA):c.210del (p.Ser71fs) | Charcot-Marie-Tooth disease type 2 [RCV001044761] | pathogenic | 1 | 156115128 | 156115128 | Human | 1 | name |
| 28880312 | CV858766 | single nucleotide variant | NM_170707.4(LMNA):c.62T>C (p.Leu21Pro) | Charcot-Marie-Tooth disease type 2 [RCV002298871]|Developmental regression [RCV001090180] | uncertain significance | 1 | 156114980 | 156114980 | Human | 4 | name |
| 28893325 | CV903710 | single nucleotide variant | NM_170707.4(LMNA):c.37G>A (p.Gly13Arg) | Cardiomyopathy [RCV001170448] | uncertain significance | 1 | 156114955 | 156114955 | Human | 2 | name |
| 34899852 | CV906408 | single nucleotide variant | NM_170707.4(LMNA):c.300C>G (p.Ala100=) | Cardiomyopathy [RCV001189057] | likely benign | 1 | 156115218 | 156115218 | Human | 2 | name |
| 34894715 | CV906409 | single nucleotide variant | NM_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 benign | 1 | 156130629 | 156130629 | Human | 18 | name |
| 34899994 | CV906411 | single nucleotide variant | NM_170707.4(LMNA):c.480C>A (p.Gly160=) | Cardiomyopathy [RCV001189286]|Charcot-Marie-Tooth disease type 2 [RCV003117829]|Primary dilated cardiomyopathy [RCV004010354] | likely benign | 1 | 156130740 | 156130740 | Human | 4 | name |
| 34900601 | CV906416 | single nucleotide variant | NM_170707.4(LMNA):c.537C>T (p.Ala179=) | Cardiomyopathy [RCV001190328] | likely benign | 1 | 156134426 | 156134426 | Human | 2 | name |
| 34893927 | CV906418 | single nucleotide variant | NM_170707.4(LMNA):c.624G>A (p.Lys208=) | Cardiomyopathy [RCV001176943]|Charcot-Marie-Tooth disease type 2 [RCV002559708] | likely benign | 1 | 156134513 | 156134513 | Human | 3 | name |
| 34889326 | CV906419 | single nucleotide variant | NM_170707.4(LMNA):c.660C>T (p.Arg220=) | Cardiomyopathy [RCV001181411]|Cardiovascular phenotype [RCV004994282] | likely benign | 1 | 156134825 | 156134825 | Human | 2 | name |
| 34892775 | CV906420 | single nucleotide variant | NM_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 benign | 1 | 156134843 | 156134843 | Human | 4 | name |
| 34898880 | CV906421 | single nucleotide variant | NM_170707.4(LMNA):c.693T>C (p.Asn231=) | Cardiomyopathy [RCV001180344] | likely benign | 1 | 156134858 | 156134858 | Human | 2 | name |
| 34893214 | CV906422 | single nucleotide variant | NM_170707.4(LMNA):c.765G>A (p.Gln255=) | Cardiomyopathy [RCV001183665]|Charcot-Marie-Tooth disease type 2 [RCV002068360]|Primary dilated cardiomyopathy [RCV004008398] | likely benign | 1 | 156134930 | 156134930 | Human | 4 | name |
| 34898705 | CV906424 | single nucleotide variant | NM_170707.4(LMNA):c.843C>T (p.Asn281=) | Cardiomyopathy [RCV001180196]|Charcot-Marie-Tooth disease type 2 [RCV001401182] | likely benign | 1 | 156135219 | 156135219 | Human | 3 | name |
| 38473845 | CV921664 | single nucleotide variant | NM_170707.4(LMNA):c.92A>G (p.Glu31Gly) | Charcot-Marie-Tooth disease type 2 [RCV001214508] | pathogenic | 1 | 156115010 | 156115010 | Human | 1 | name |
| 38484734 | CV941494 | single nucleotide variant | NM_170707.4(LMNA):c.471G>T (p.Thr157=) | Charcot-Marie-Tooth disease type 2 [RCV001236489] | uncertain significance | 1 | 156130731 | 156130731 | Human | 1 | name |
| 126772897 | CV1002179 | single nucleotide variant | NM_170707.4(LMNA):c.1608A>G (p.Glu536=) | Cardiovascular phenotype [RCV004995681]|Charcot-Marie-Tooth disease type 2 [RCV001324017] | likely benign|uncertain significance | 1 | 156137232 | 156137232 | Human | 1 | name |
| 126737379 | CV1015563 | single nucleotide variant | NM_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 significance | 1 | 156115051 | 156115051 | Human | 4 | name |
| 126744716 | CV1015564 | single nucleotide variant | NM_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 significance | 1 | 156115105 | 156115105 | Human | 16 | name |
| 127254599 | CV1054742 | single nucleotide variant | NM_170707.4(LMNA):c.112C>G (p.Leu38Val) | Charcot-Marie-Tooth disease type 2 [RCV001379195] | likely pathogenic | 1 | 156115030 | 156115030 | Human | 1 | name |
| 127260312 | CV1058426 | single nucleotide variant | NM_170707.4(LMNA):c.194A>G (p.Glu65Gly) | Charcot-Marie-Tooth disease type 2 [RCV001387324] | pathogenic | 1 | 156115112 | 156115112 | Human | 1 | name |
| 127246304 | CV1058427 | single nucleotide variant | NM_170707.4(LMNA):c.275T>C (p.Leu92Pro) | Charcot-Marie-Tooth disease type 2 [RCV001384525] | pathogenic | 1 | 156115193 | 156115193 | Human | 1 | name |
| 127233629 | CV1066297 | single nucleotide variant | NM_170707.4(LMNA):c.1038C>T (p.Ala346=) | Cardiomyopathy [RCV003486983]|Cardiovascular phenotype [RCV002395889]|Charcot-Marie-Tooth disease type 2 [RCV001396198]|not provided [RCV001702591] | likely benign | 1 | 156136002 | 156136002 | Human | 3 | name |
| 127266834 | CV1066298 | single nucleotide variant | NM_170707.4(LMNA):c.1128C>T (p.Tyr376=) | Charcot-Marie-Tooth disease type 2 [RCV001403955] | likely benign | 1 | 156136092 | 156136092 | Human | 1 | name |
| 127232027 | CV1066299 | single nucleotide variant | NM_170707.4(LMNA):c.1590C>T (p.Leu530=) | Cardiovascular phenotype [RCV004995745]|Charcot-Marie-Tooth disease type 2 [RCV001395533] | likely benign | 1 | 156137214 | 156137214 | Human | 1 | name |
| 127231792 | CV1066300 | single nucleotide variant | NM_170707.4(LMNA):c.1617C>G (p.Ala539=) | Charcot-Marie-Tooth disease type 2 [RCV001413223] | likely benign | 1 | 156137662 | 156137662 | Human | 1 | name |
| 127230543 | CV1066301 | single nucleotide variant | NM_170707.4(LMNA):c.1782T>C (p.Pro594=) | Cardiovascular phenotype [RCV004995742]|Charcot-Marie-Tooth disease type 2 [RCV001394731] | likely benign | 1 | 156138571 | 156138571 | Human | 1 | name |
| 127282680 | CV1088039 | single nucleotide variant | NM_170707.4(LMNA):c.1027C>A (p.Arg343=) | Cardiomyopathy [RCV001525897]|Charcot-Marie-Tooth disease type 2 [RCV001448034]|Primary dilated cardiomyopathy [RCV004007043] | likely benign | 1 | 156135991 | 156135991 | Human | 4 | name |
| 127262122 | CV1088041 | single nucleotide variant | NM_170707.4(LMNA):c.1521C>T (p.Ser507=) | Charcot-Marie-Tooth disease type 2 [RCV001438871] | likely benign | 1 | 156137145 | 156137145 | Human | 1 | name |
| 127278378 | CV1088042 | single nucleotide variant | NM_170707.4(LMNA):c.1534C>T (p.Leu512=) | Charcot-Marie-Tooth disease type 2 [RCV001445038]|not specified [RCV003331157] | likely benign | 1 | 156137158 | 156137158 | Human | 1 | name |
| 127247125 | CV1088043 | single nucleotide variant | NM_170707.4(LMNA):c.1539G>A (p.Val513=) | Cardiomyopathy [RCV001526172]|Cardiovascular phenotype [RCV004631705]|Charcot-Marie-Tooth disease type 2 [RCV001435571] | likely benign|uncertain significance | 1 | 156137163 | 156137163 | Human | 3 | name |
| 127269175 | CV1088045 | single nucleotide variant | NM_170707.4(LMNA):c.1641G>T (p.Val547=) | Charcot-Marie-Tooth disease type 2 [RCV001440998] | likely benign | 1 | 156137686 | 156137686 | Human | 1 | name |
| 127234937 | CV1088046 | single nucleotide variant | NM_170707.4(LMNA):c.1719G>A (p.Ser573=) | Charcot-Marie-Tooth disease type 2 [RCV001432991]|not provided [RCV003311990] | likely benign | 1 | 156138508 | 156138508 | Human | 1 | name |
| 127294012 | CV1109553 | single nucleotide variant | NM_170707.4(LMNA):c.1138T>C (p.Leu380=) | Cardiovascular phenotype [RCV002322491]|Charcot-Marie-Tooth disease type 2 [RCV001452150]|Primary dilated cardiomyopathy [RCV004007050] | likely benign | 1 | 156136102 | 156136102 | Human | 2 | name |
| 127308391 | CV1109555 | single nucleotide variant | NM_170707.4(LMNA):c.1314G>T (p.Gly438=) | Charcot-Marie-Tooth disease type 2 [RCV001463298] | likely benign | 1 | 156136370 | 156136370 | Human | 1 | name |
| 127333864 | CV1109556 | single nucleotide variant | NM_170707.4(LMNA):c.1323C>A (p.Ala441=) | Charcot-Marie-Tooth disease type 2 [RCV001473180] | likely benign | 1 | 156136379 | 156136379 | Human | 1 | name |
| 127298332 | CV1109557 | single nucleotide variant | NM_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 significance | 1 | 156136418 | 156136418 | Human | 2 | name |
| 127294797 | CV1109558 | single nucleotide variant | NM_170707.4(LMNA):c.1692C>T (p.His564=) | Cardiovascular phenotype [RCV004995849]|Charcot-Marie-Tooth disease type 2 [RCV001459550] | likely benign | 1 | 156137737 | 156137737 | Human | 1 | name |
| 127318000 | CV1109559 | single nucleotide variant | NM_170707.4(LMNA):c.1893C>A (p.Gly631=) | Charcot-Marie-Tooth disease type 2 [RCV001466049] | likely benign | 1 | 156138682 | 156138682 | Human | 1 | name |
| 127338211 | CV1130457 | single nucleotide variant | NM_170707.4(LMNA):c.1350G>A (p.Lys450=) | Charcot-Marie-Tooth disease type 2 [RCV001493687] | likely benign | 1 | 156136406 | 156136406 | Human | 1 | name |
| 127322786 | CV1130458 | single nucleotide variant | NM_170707.4(LMNA):c.1644T>G (p.Thr548=) | Charcot-Marie-Tooth disease type 2 [RCV001485030] | likely benign | 1 | 156137689 | 156137689 | Human | 1 | name |
| 127313892 | CV1130459 | single nucleotide variant | NM_170707.4(LMNA):c.1758G>A (p.Val586=) | Charcot-Marie-Tooth disease type 2 [RCV001482096] | likely benign | 1 | 156138547 | 156138547 | Human | 1 | name |
| 127306991 | CV1130460 | single nucleotide variant | NM_170707.4(LMNA):c.1759C>T (p.Leu587=) | Charcot-Marie-Tooth disease type 2 [RCV001480218] | likely benign | 1 | 156138548 | 156138548 | Human | 1 | name |
| 127308204 | CV1130461 | single nucleotide variant | NM_170707.4(LMNA):c.1815C>A (p.Ala605=) | Charcot-Marie-Tooth disease type 2 [RCV001500735] | likely benign | 1 | 156138604 | 156138604 | Human | 1 | name |
| 127288955 | CV1151821 | single nucleotide variant | NM_170707.4(LMNA):c.181C>T (p.Leu61Phe) | not provided [RCV001508891] | uncertain significance | 1 | 156115099 | 156115099 | Human | | name |
| 127325408 | CV1160077 | single nucleotide variant | NM_170707.4(LMNA):c.226G>A (p.Gly76Ser) | Cardiomyopathy [RCV001525305]|Charcot-Marie-Tooth disease type 2 [RCV001873665]|Primary dilated cardiomyopathy [RCV004008835] | uncertain significance | 1 | 156115144 | 156115144 | Human | 4 | name |
| 127323198 | CV1160084 | single nucleotide variant | NM_170707.4(LMNA):c.1356C>A (p.Val452=) | Cardiomyopathy [RCV001523911]|Charcot-Marie-Tooth disease type 2 [RCV002568048] | likely benign | 1 | 156136412 | 156136412 | Human | 3 | name |
| 127323305 | CV1160088 | single nucleotide variant | NM_170707.4(LMNA):c.1785C>A (p.Ala595=) | Cardiomyopathy [RCV001523972]|Cardiovascular phenotype [RCV004995932] | likely benign | 1 | 156138574 | 156138574 | Human | 2 | name |
| 127326787 | CV1160089 | single nucleotide variant | NM_170707.4(LMNA):c.1812A>G (p.Gly604=) | Cardiomyopathy [RCV001526219]|Charcot-Marie-Tooth disease type 2 [RCV005094710] | likely benign | 1 | 156138601 | 156138601 | Human | 3 | name |
| 150547625 | CV1292105 | single nucleotide variant | NM_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 significance | 1 | 156115030 | 156115030 | Human | 2 | name |
| 150551848 | CV1298938 | single nucleotide variant | NM_170707.4(LMNA):c.164A>G (p.Glu55Gly) | Hutchinson-Gilford syndrome [RCV001754577] | likely pathogenic | 1 | 156115082 | 156115082 | Human | 1 | name |
| 151348830 | CV1322735 | single nucleotide variant | NM_170707.4(LMNA):c.1593C>A (p.Ile531=) | Cardiomyopathy [RCV001804531]|Charcot-Marie-Tooth disease type 2 [RCV002541408] | likely benign | 1 | 156137217 | 156137217 | Human | 3 | name |
| 151351036 | CV1323290 | single nucleotide variant | NM_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 significance | 1 | 156137208 | 156137208 | Human | 4 | name |
| 151664395 | CV1332566 | single nucleotide variant | NM_170707.4(LMNA):c.168C>G (p.Asn56Lys) | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV001829276] | likely pathogenic | 1 | 156115086 | 156115086 | Human | 2 | name |
| 151816677 | CV1344620 | single nucleotide variant | NM_170707.4(LMNA):c.203A>T (p.Glu68Val) | Charcot-Marie-Tooth disease type 2 [RCV001919151] | pathogenic|uncertain significance | 1 | 156115121 | 156115121 | Human | 1 | name |
| 151829796 | CV1348516 | single nucleotide variant | NM_170707.4(LMNA):c.280T>C (p.Ser94Pro) | Charcot-Marie-Tooth disease type 2 [RCV001870422] | pathogenic|uncertain significance | 1 | 156115198 | 156115198 | Human | 1 | name |
| 151765913 | CV1348530 | single nucleotide variant | NM_170707.4(LMNA):c.1380G>A (p.Glu460=) | Charcot-Marie-Tooth disease type 2 [RCV001895852] | uncertain significance | 1 | 156136436 | 156136436 | Human | 1 | name |
| 151843253 | CV1357880 | single nucleotide variant | NM_170707.4(LMNA):c.142C>G (p.Arg48Gly) | Charcot-Marie-Tooth disease type 2 [RCV001881619] | likely pathogenic|uncertain significance | 1 | 156115060 | 156115060 | Human | 1 | name |
| 151737471 | CV1362062 | single nucleotide variant | NM_170707.4(LMNA):c.1158G>A (p.Arg386=) | Charcot-Marie-Tooth disease type 2 [RCV001967791] | uncertain significance | 1 | 156136214 | 156136214 | Human | 1 | name |
| 151865740 | CV1381161 | single nucleotide variant | NM_170707.4(LMNA):c.238G>C (p.Ala80Pro) | Charcot-Marie-Tooth disease type 2 [RCV002018315]|Dilated cardiomyopathy 1A [RCV004785456] | uncertain significance | 1 | 156115156 | 156115156 | Human | 3 | name |
| 151887340 | CV1386246 | single nucleotide variant | NM_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 significance | 1 | 156115184 | 156115184 | Human | 2 | name |
| 151810145 | CV1393340 | deletion | NM_170707.4(LMNA):c.822del (p.Arg275fs) | Charcot-Marie-Tooth disease type 2 [RCV001953733]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV002492131] | pathogenic|likely pathogenic | 1 | 156135197 | 156135197 | Human | 3 | name |
| 151819117 | CV1415925 | single nucleotide variant | NM_170707.4(LMNA):c.108G>T (p.Gln36His) | Charcot-Marie-Tooth disease type 2 [RCV001919389]|Congenital muscular dystrophy due to LMNA mutation [RCV003128831] | uncertain significance | 1 | 156115026 | 156115026 | Human | 2 | name |
| 151833513 | CV1439380 | single nucleotide variant | NM_170707.4(LMNA):c.125T>C (p.Leu42Ser) | Charcot-Marie-Tooth disease type 2 [RCV001976882] | likely pathogenic|uncertain significance | 1 | 156115043 | 156115043 | Human | 1 | name |
| 151713751 | CV1451149 | single nucleotide variant | NM_170707.4(LMNA):c.135C>G (p.Tyr45Ter) | Charcot-Marie-Tooth disease type 2 [RCV002002508] | pathogenic | 1 | 156115053 | 156115053 | Human | 1 | name |
| 151834814 | CV1471333 | single nucleotide variant | NM_170707.4(LMNA):c.128C>A (p.Ala43Glu) | Charcot-Marie-Tooth disease type 2 [RCV001956044] | pathogenic | 1 | 156115046 | 156115046 | Human | 1 | name |
| 151770383 | CV1481753 | single nucleotide variant | NM_170707.4(LMNA):c.295C>T (p.Arg99Cys) | Charcot-Marie-Tooth disease type 2 [RCV002008787] | uncertain significance | 1 | 156115213 | 156115213 | Human | 1 | name |
| 151761351 | CV1496391 | indel | NM_170707.4(LMNA):c.937-9_937-8delinsAG | Charcot-Marie-Tooth disease type 2 [RCV001895356] | uncertain significance | 1 | 156135892 | 156135893 | Human | | name |
| 151731459 | CV1512287 | single nucleotide variant | NM_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 significance | 1 | 156115162 | 156115162 | Human | 3 | name |
| 152129951 | CV1539051 | single nucleotide variant | NM_170707.4(LMNA):c.1176C>T (p.Ser392=) | Cardiovascular phenotype [RCV004641914]|Charcot-Marie-Tooth disease type 2 [RCV002217931] | likely benign | 1 | 156136232 | 156136232 | Human | 1 | name |
| 152071616 | CV1549174 | single nucleotide variant | NM_170707.4(LMNA):c.1236G>A (p.Gly412=) | Charcot-Marie-Tooth disease type 2 [RCV002091664] | likely benign | 1 | 156136292 | 156136292 | Human | 1 | name |
| 152082324 | CV1551896 | single nucleotide variant | NM_170707.4(LMNA):c.1902T>C (p.Gly634=) | Charcot-Marie-Tooth disease type 2 [RCV002093016] | likely benign | 1 | 156138691 | 156138691 | Human | 1 | name |
| 152170933 | CV1552474 | single nucleotide variant | NM_170707.4(LMNA):c.1809A>G (p.Ser603=) | Cardiovascular phenotype [RCV004990711]|Charcot-Marie-Tooth disease type 2 [RCV002143283] | likely benign | 1 | 156138598 | 156138598 | Human | 1 | name |
| 152160834 | CV1555185 | single nucleotide variant | NM_170707.4(LMNA):c.1497T>A (p.Ala499=) | Charcot-Marie-Tooth disease type 2 [RCV002103762] | likely benign | 1 | 156137121 | 156137121 | Human | 1 | name |
| 152135338 | CV1571870 | single nucleotide variant | NM_170707.4(LMNA):c.1578G>T (p.Leu526=) | Cardiovascular phenotype [RCV002398163]|Charcot-Marie-Tooth disease type 2 [RCV002177348] | likely benign | 1 | 156137202 | 156137202 | Human | 1 | name |
| 152137907 | CV1580502 | single nucleotide variant | NM_170707.4(LMNA):c.1170C>T (p.Ser390=) | Charcot-Marie-Tooth disease type 2 [RCV002156378] | likely benign | 1 | 156136226 | 156136226 | Human | 1 | name |
| 152159467 | CV1588091 | single nucleotide variant | NM_170707.4(LMNA):c.1116G>A (p.Glu372=) | Charcot-Marie-Tooth disease type 2 [RCV002180673] | likely benign | 1 | 156136080 | 156136080 | Human | 1 | name |
| 152122719 | CV1593978 | single nucleotide variant | NM_170707.4(LMNA):c.1500A>G (p.Ala500=) | Charcot-Marie-Tooth disease type 2 [RCV002175791] | likely benign | 1 | 156137124 | 156137124 | Human | 1 | name |
| 152171112 | CV1612821 | single nucleotide variant | NM_170707.4(LMNA):c.1971C>T (p.Ser657=) | Cardiovascular phenotype [RCV002416458]|Charcot-Marie-Tooth disease type 2 [RCV002183388] | likely benign | 1 | 156139082 | 156139082 | Human | 1 | name |
| 152045069 | CV1614084 | single nucleotide variant | NM_170707.4(LMNA):c.1389C>T (p.Ser463=) | Charcot-Marie-Tooth disease type 2 [RCV002166182] | likely benign | 1 | 156136929 | 156136929 | Human | 1 | name |
| 152027219 | CV1626817 | single nucleotide variant | NM_170707.4(LMNA):c.1005G>A (p.Arg335=) | Charcot-Marie-Tooth disease type 2 [RCV002185422] | likely benign | 1 | 156135969 | 156135969 | Human | 1 | name |
| 152085789 | CV1645265 | single nucleotide variant | NM_170707.4(LMNA):c.1200C>T (p.Gly400=) | Charcot-Marie-Tooth disease type 2 [RCV002131410] | likely benign | 1 | 156136256 | 156136256 | Human | 1 | name |
| 152145581 | CV1661736 | single nucleotide variant | NM_170707.4(LMNA):c.1254G>A (p.Lys418=) | Charcot-Marie-Tooth disease type 2 [RCV002157375] | likely benign | 1 | 156136310 | 156136310 | Human | 1 | name |
| 153304346 | CV1686963 | single nucleotide variant | NM_170707.4(LMNA):c.1179T>C (p.Pro393=) | Charcot-Marie-Tooth disease type 2 [RCV005058195]|not provided [RCV002262250] | likely benign | 1 | 156136235 | 156136235 | Human | 1 | name |
| 155643878 | CV1708188 | single nucleotide variant | NM_170707.4(LMNA):c.145G>T (p.Val49Leu) | Congenital muscular dystrophy due to LMNA mutation [RCV002290177] | uncertain significance | 1 | 156115063 | 156115063 | Human | 1 | name |
| 10408191 | CV172113 | single nucleotide variant | NM_170707.4(LMNA):c.1968G>A (p.Gln656=) | Hutchinson-Gilford progeria syndrome, atypical [RCV000190822]|Hutchinson-Gilford syndrome [RCV000192015] | pathogenic|not provided | 1 | 156138757 | 156138757 | Human | 1 | name |
| 155695657 | CV1772042 | single nucleotide variant | NM_170707.4(LMNA):c.110A>G (p.Glu37Gly) | Charcot-Marie-Tooth disease type 2 [RCV002299597] | uncertain significance | 1 | 156115028 | 156115028 | Human | 1 | name |
| 155671743 | CV1773914 | single nucleotide variant | NM_170707.4(LMNA):c.224C>A (p.Ser75Tyr) | Charcot-Marie-Tooth disease type 2 [RCV002297497] | uncertain significance | 1 | 156115142 | 156115142 | Human | 1 | name |
| 155743706 | CV1806923 | duplication | NM_170707.4(LMNA):c.561dup (p.Leu188fs) | Cardiovascular phenotype [RCV002345004] | pathogenic | 1 | 156134449 | 156134450 | Human | | name |
| 155701075 | CV1828561 | single nucleotide variant | NM_170707.4(LMNA):c.1749G>C (p.Ser583=) | Cardiovascular phenotype [RCV002401542] | likely benign | 1 | 156138538 | 156138538 | Human | | name |
| 155722927 | CV1831433 | single nucleotide variant | NM_170707.4(LMNA):c.1725C>T (p.Asp575=) | Cardiovascular phenotype [RCV002399113]|Charcot-Marie-Tooth disease type 2 [RCV003097178]|Primary dilated cardiomyopathy [RCV004808318] | likely benign | 1 | 156138514 | 156138514 | Human | 2 | name |
| 155737920 | CV1831777 | single nucleotide variant | NM_170707.4(LMNA):c.1806C>T (p.Gly602=) | Cardiovascular phenotype [RCV002410074] | likely benign | 1 | 156138595 | 156138595 | Human | | name |
| 155731609 | CV1834865 | single nucleotide variant | NM_170707.4(LMNA):c.178C>A (p.Arg60Ser) | Cardiovascular phenotype [RCV002407755] | uncertain significance | 1 | 156115096 | 156115096 | Human | | name |
| 155715069 | CV1834935 | single nucleotide variant | NM_170707.4(LMNA):c.1794A>G (p.Ala598=) | Cardiovascular phenotype [RCV002404236]|Charcot-Marie-Tooth disease type 2 [RCV003581862] | likely benign | 1 | 156138583 | 156138583 | Human | 1 | name |
| 155732296 | CV1835092 | single nucleotide variant | NM_170707.4(LMNA):c.1800C>T (p.Ala600=) | Cardiovascular phenotype [RCV002407906] | likely benign | 1 | 156138589 | 156138589 | Human | | name |
| 155732548 | CV1835391 | single nucleotide variant | NM_170707.4(LMNA):c.1887G>C (p.Val629=) | Cardiovascular phenotype [RCV002407951] | likely benign | 1 | 156138676 | 156138676 | Human | | name |
| 155720994 | CV1835865 | single nucleotide variant | NM_170707.4(LMNA):c.1302A>G (p.Ala434=) | Cardiomyopathy [RCV005401972]|Cardiovascular phenotype [RCV002380867]|Charcot-Marie-Tooth disease type 2 [RCV003094938] | likely benign | 1 | 156136358 | 156136358 | Human | 3 | name |
| 155721469 | CV1835936 | single nucleotide variant | NM_170707.4(LMNA):c.1305C>T (p.Arg435=) | Cardiovascular phenotype [RCV002380939]|Charcot-Marie-Tooth disease type 2 [RCV003094946] | likely benign | 1 | 156136361 | 156136361 | Human | 1 | name |
| 155733945 | CV1842744 | single nucleotide variant | NM_170707.4(LMNA):c.1005G>C (p.Arg335=) | Cardiovascular phenotype [RCV002408315] | likely benign | 1 | 156135969 | 156135969 | Human | | name |
| 155739261 | CV1842947 | single nucleotide variant | NM_170707.4(LMNA):c.1914G>A (p.Gly638=) | Cardiovascular phenotype [RCV002410596] | likely benign | 1 | 156138703 | 156138703 | Human | | name |
| 155748461 | CV1847127 | single nucleotide variant | NM_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 significance | 1 | 156115130 | 156115130 | Human | 1 | name |
| 155710940 | CV1848291 | single nucleotide variant | NM_170707.4(LMNA):c.244G>T (p.Glu82Ter) | Cardiovascular phenotype [RCV002430693] | pathogenic | 1 | 156115162 | 156115162 | Human | | name |
| 155691624 | CV1848813 | single nucleotide variant | NM_170707.4(LMNA):c.1104C>T (p.Ala368=) | Cardiovascular phenotype [RCV002426037]|Primary dilated cardiomyopathy [RCV004808343] | likely benign | 1 | 156136068 | 156136068 | Human | 1 | name |
| 155669094 | CV1848870 | single nucleotide variant | NM_170707.4(LMNA):c.257G>A (p.Gly86Glu) | Cardiovascular phenotype [RCV002452831] | uncertain significance | 1 | 156115175 | 156115175 | Human | | name |
| 155803552 | CV1858114 | single nucleotide variant | NM_170707.4(LMNA):c.213C>A (p.Ser71Arg) | not provided [RCV002462423] | uncertain significance | 1 | 156115131 | 156115131 | Human | | name |
| 10046349 | CV189383 | single nucleotide variant | NM_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 significance | 1 | 156135981 | 156135981 | Human | 4 | name , alternate_id |
| 156217246 | CV1903428 | single nucleotide variant | NM_170707.4(LMNA):c.208G>A (p.Val70Ile) | Charcot-Marie-Tooth disease type 2 [RCV003084847] | uncertain significance | 1 | 156115126 | 156115126 | Human | 1 | name |
| 10049474 | CV190479 | single nucleotide variant | NM_170707.4(LMNA):c.188T>C (p.Ile63Thr) | not provided [RCV000173378] | uncertain significance | 1 | 156115106 | 156115106 | Human | | name |
| 156159310 | CV1928507 | single nucleotide variant | NM_170707.4(LMNA):c.115A>G (p.Asn39Asp) | Charcot-Marie-Tooth disease type 2 [RCV002664185]|Congenital muscular dystrophy due to LMNA mutation [RCV005254717] | likely pathogenic | 1 | 156115033 | 156115033 | Human | 2 | name |
| 156397247 | CV1934314 | single nucleotide variant | NM_170707.4(LMNA):c.1239C>A (p.Gly413=) | Cardiomyopathy [RCV003533363]|Charcot-Marie-Tooth disease type 2 [RCV002655053]|Primary dilated cardiomyopathy [RCV004009528] | likely benign | 1 | 156136295 | 156136295 | Human | 4 | name |
| 156440578 | CV1943681 | single nucleotide variant | NM_170707.4(LMNA):c.1257C>T (p.Arg419=) | Charcot-Marie-Tooth disease type 2 [RCV003110614] | likely benign | 1 | 156136313 | 156136313 | Human | 1 | name |
| 10053441 | CV196270 | single nucleotide variant | NM_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 mutat ion [RCV000392077]|Dilated cardiomyopathy 1A [RCV000309672]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001100975]|Emery-Dreifuss muscular dystrophy [RCV000373945]|Familial partial lipodystrophy, Dunnigan type [RCV000363237]|Hutchinson-Gilford syndrome [RCV000306169]|Lethal tight skin contracture syndrome [RCV000331994]|Limb-girdle muscular dystrophy, recessive [RCV000274426]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000392082]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000259331]|Primary dilated cardiomyopathy [RCV003996588]|not provided [RCV000589163]|not specified [RCV000223139] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156137175 | 156137175 | Human | 18 | name |
| 10056827 | CV196449 | single nucleotide variant | NM_170707.4(LMNA):c.179G>C (p.Arg60Pro) | not provided [RCV000182381]|not specified [RCV004526630] | pathogenic|likely pathogenic|uncertain significance | 1 | 156115097 | 156115097 | Human | | name |
| 10056828 | CV196450 | single nucleotide variant | NM_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 significance | 1 | 156115168 | 156115168 | Human | 16 | name |
| 10056804 | CV196451 | single nucleotide variant | NM_170707.4(LMNA):c.252G>C (p.Glu84Asp) | Charcot-Marie-Tooth disease type 2 [RCV001852311]|not provided [RCV000182351] | likely pathogenic|uncertain significance | 1 | 156115170 | 156115170 | Human | 1 | name |
| 10056829 | CV196453 | deletion | NM_170707.4(LMNA):c.329del (p.Arg110fs) | not provided [RCV000182384] | pathogenic|likely pathogenic | 1 | 156115247 | 156115247 | Human | | name |
| 10056832 | CV196464 | deletion | NM_170707.4(LMNA):c.522del (p.Ala175fs) | Charcot-Marie-Tooth disease type 2 [RCV005089908]|Primary dilated cardiomyopathy [RCV003996717]|not provided [RCV000182387] | pathogenic | 1 | 156134411 | 156134411 | Human | 2 | name |
| 10056834 | CV196472 | deletion | NM_170707.4(LMNA):c.859del (p.Ala287fs) | Primary dilated cardiomyopathy [RCV000208368]|not provided [RCV000182389] | pathogenic|likely pathogenic | 1 | 156135231 | 156135231 | Human | 1 | name |
| 10056835 | CV196474 | duplication | NM_170707.4(LMNA):c.973dup (p.Asp325fs) | not provided [RCV000182390] | pathogenic | 1 | 156135935 | 156135936 | Human | | name |
| 155917978 | CV1981040 | single nucleotide variant | NM_170707.4(LMNA):c.1965C>G (p.Thr655=) | Charcot-Marie-Tooth disease type 2 [RCV002614411] | likely benign | 1 | 156138754 | 156138754 | Human | 1 | name |
| 156219296 | CV2015419 | single nucleotide variant | NM_170707.4(LMNA):c.193G>A (p.Glu65Lys) | Charcot-Marie-Tooth disease type 2 [RCV002700942]|Primary dilated cardiomyopathy [RCV004007552] | likely pathogenic|uncertain significance | 1 | 156115111 | 156115111 | Human | 2 | name |
| 155910915 | CV2033023 | single nucleotide variant | NM_170707.4(LMNA):c.1119C>T (p.Ile373=) | Charcot-Marie-Tooth disease type 2 [RCV002750129]|Primary dilated cardiomyopathy [RCV004007570] | likely benign | 1 | 156136083 | 156136083 | Human | 2 | name |
| 156031113 | CV2036914 | single nucleotide variant | NM_170707.4(LMNA):c.1062G>A (p.Gln354=) | Cardiovascular phenotype [RCV003367881]|Charcot-Marie-Tooth disease type 2 [RCV002781114] | likely benign | 1 | 156136026 | 156136026 | Human | 1 | name |
| 156156973 | CV2049345 | deletion | NM_170707.4(LMNA):c.707del (p.Glu236fs) | Charcot-Marie-Tooth disease type 2 [RCV002801487] | pathogenic | 1 | 156134872 | 156134872 | Human | 1 | name |
| 156119163 | CV2055224 | single nucleotide variant | NM_170707.4(LMNA):c.194A>T (p.Glu65Val) | Charcot-Marie-Tooth disease type 2 [RCV002825231] | likely pathogenic | 1 | 156115112 | 156115112 | Human | 1 | name |
| 156198609 | CV2062832 | single nucleotide variant | NM_170707.4(LMNA):c.1272T>C (p.Thr424=) | Charcot-Marie-Tooth disease type 2 [RCV002828856]|Primary dilated cardiomyopathy [RCV004007630] | likely benign | 1 | 156136328 | 156136328 | Human | 2 | name |
| 155928764 | CV2067152 | single nucleotide variant | NM_170707.4(LMNA):c.1167G>A (p.Leu389=) | Charcot-Marie-Tooth disease type 2 [RCV002838657] | likely benign | 1 | 156136223 | 156136223 | Human | 1 | name |
| 156219888 | CV2078306 | single nucleotide variant | NM_170707.4(LMNA):c.1413C>A (p.Arg471=) | Charcot-Marie-Tooth disease type 2 [RCV002894141] | likely benign | 1 | 156136953 | 156136953 | Human | 1 | name |
| 156220129 | CV2083861 | single nucleotide variant | NM_170707.4(LMNA):c.1923G>C (p.Leu641=) | Charcot-Marie-Tooth disease type 2 [RCV002875836] | likely benign | 1 | 156138712 | 156138712 | Human | 1 | name |
| 156316174 | CV2104136 | single nucleotide variant | NM_170707.4(LMNA):c.1215C>T (p.His405=) | Cardiomyopathy [RCV005403249]|Charcot-Marie-Tooth disease type 2 [RCV002937461] | likely benign|uncertain significance | 1 | 156136271 | 156136271 | Human | 3 | name |
| 155986190 | CV2108896 | single nucleotide variant | NM_170707.4(LMNA):c.1854C>T (p.Ser618=) | Charcot-Marie-Tooth disease type 2 [RCV002947108]|Primary dilated cardiomyopathy [RCV004007695] | likely benign | 1 | 156138643 | 156138643 | Human | 2 | name |
| 156007237 | CV2126645 | single nucleotide variant | NM_170707.4(LMNA):c.1335G>A (p.Val445=) | Charcot-Marie-Tooth disease type 2 [RCV002975459] | likely benign | 1 | 156136391 | 156136391 | Human | 1 | name |
| 156125075 | CV2144709 | single nucleotide variant | NM_170707.4(LMNA):c.245A>G (p.Glu82Gly) | Charcot-Marie-Tooth disease type 2 [RCV003003137] | likely pathogenic | 1 | 156115163 | 156115163 | Human | 1 | name |
| 156042458 | CV2146938 | single nucleotide variant | NM_170707.4(LMNA):c.117T>A (p.Asn39Lys) | Charcot-Marie-Tooth disease type 2 [RCV003019110] | pathogenic | 1 | 156115035 | 156115035 | Human | 1 | name |
| 156285149 | CV2187102 | single nucleotide variant | NM_170707.4(LMNA):c.1926C>T (p.Val642=) | Charcot-Marie-Tooth disease type 2 [RCV003044914] | likely benign | 1 | 156138715 | 156138715 | Human | 1 | name |
| 156371797 | CV2188773 | single nucleotide variant | NM_170707.4(LMNA):c.250G>T (p.Glu84Ter) | Charcot-Marie-Tooth disease type 2 [RCV003066344] | pathogenic | 1 | 156115168 | 156115168 | Human | 1 | name |
| 156140796 | CV2191812 | duplication | NM_170707.4(LMNA):c.734dup (p.Gln246fs) | Charcot-Marie-Tooth disease type 2 [RCV003056175] | pathogenic | 1 | 156134898 | 156134899 | Human | 1 | name |
| 11040417 | CV224178 | single nucleotide variant | NM_170707.4(LMNA):c.263C>G (p.Ala88Gly) | Primary dilated cardiomyopathy [RCV000208508] | uncertain significance | 1 | 156115181 | 156115181 | Human | 1 | name |
| 11095534 | CV228270 | single nucleotide variant | NM_170707.4(LMNA):c.230T>C (p.Ile77Thr) | Charcot-Marie-Tooth disease type 2 [RCV001344429]|not specified [RCV000222436] | uncertain significance | 1 | 156115148 | 156115148 | Human | 1 | name |
| 11091053 | CV228271 | single nucleotide variant | NM_170707.4(LMNA):c.232A>G (p.Lys78Glu) | Charcot-Marie-Tooth disease type 2 [RCV001853458]|not specified [RCV000216833] | uncertain significance | 1 | 156115150 | 156115150 | Human | 1 | name |
| 11096250 | CV228275 | deletion | NM_170707.4(LMNA):c.476del (p.Glu159fs) | Primary dilated cardiomyopathy [RCV000223332] | likely pathogenic | 1 | 156130736 | 156130736 | Human | 1 | name |
| 11093384 | CV228279 | single nucleotide variant | NM_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 [RC V001705194]|not specified [RCV000219715] | likely benign | 1 | 156138559 | 156138559 | Human | 5 | name , alternate_id |
| 11091095 | CV228282 | single nucleotide variant | NM_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 benign | 1 | 156138520 | 156138520 | Human | 18 | name |
| 11345638 | CV238146 | single nucleotide variant | NM_170707.4(LMNA):c.254T>A (p.Leu85His) | Charcot-Marie-Tooth disease type 2 [RCV000225805] | likely pathogenic|uncertain significance | 1 | 156115172 | 156115172 | Human | 1 | name |
| 11349340 | CV238149 | single nucleotide variant | NM_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 benign | 1 | 156136119 | 156136119 | Human | 18 | name |
| 243062305 | CV2404698 | single nucleotide variant | NM_170707.4(LMNA):c.104T>A (p.Leu35Gln) | Congenital muscular dystrophy due to LMNA mutation [RCV003140259] | uncertain significance | 1 | 156115022 | 156115022 | Human | 1 | name |
| 243058649 | CV2413110 | single nucleotide variant | NM_170707.4(LMNA):c.148C>G (p.Arg50Gly) | Charcot-Marie-Tooth disease type 2 [RCV005099310]|not provided [RCV003134080] | likely pathogenic|uncertain significance | 1 | 156115066 | 156115066 | Human | 1 | name |
| 243058656 | CV2413113 | single nucleotide variant | NM_170707.4(LMNA):c.107A>C (p.Gln36Pro) | not provided [RCV003134082] | uncertain significance | 1 | 156115025 | 156115025 | Human | | name |
| 11523174 | CV244208 | single nucleotide variant | NM_170707.4(LMNA):c.145G>C (p.Val49Leu) | not provided [RCV000235498] | uncertain significance | 1 | 156115063 | 156115063 | Human | | name |
| 11524148 | CV244209 | single nucleotide variant | NM_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 significance | 1 | 156115079 | 156115079 | Human | 6 | name |
| 11523818 | CV244211 | single nucleotide variant | NM_170707.4(LMNA):c.224C>T (p.Ser75Phe) | Charcot-Marie-Tooth disease type 2 [RCV002518434]|not provided [RCV000236603] | likely pathogenic|uncertain significance | 1 | 156115142 | 156115142 | Human | 1 | name |
| 11524083 | CV244212 | single nucleotide variant | NM_170707.4(LMNA):c.242A>G (p.Tyr81Cys) | Charcot-Marie-Tooth disease type 2 [RCV001351546]|not provided [RCV000237077] | likely pathogenic|uncertain significance | 1 | 156115160 | 156115160 | Human | 1 | name |
| 11546915 | CV257934 | single nucleotide variant | NM_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 benign | 1 | 156138679 | 156138679 | Human | 4 | name |
| 11633608 | CV263984 | deletion | NM_170707.4(LMNA):c.784del (p.Glu262fs) | not provided [RCV000353946] | pathogenic | 1 | 156134948 | 156134948 | Human | | name |
| 11641842 | CV265790 | single nucleotide variant | NM_170707.4(LMNA):c.149G>T (p.Arg50Leu) | Charcot-Marie-Tooth disease type 2 [RCV001044757]|not provided [RCV000364250] | pathogenic|likely pathogenic|uncertain significance | 1 | 156115067 | 156115067 | Human | 1 | name |
| 11637019 | CV267056 | single nucleotide variant | NM_170707.4(LMNA):c.100G>A (p.Asp34Asn) | not provided [RCV000278648] | uncertain significance | 1 | 156115018 | 156115018 | Human | | name |
| 11638414 | CV267407 | single nucleotide variant | NM_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 significance | 1 | 156136015 | 156136015 | Human | 4 | name |
| 11639416 | CV269785 | single nucleotide variant | NM_170707.4(LMNA):c.139G>A (p.Asp47Asn) | Congenital muscular dystrophy due to LMNA mutation [RCV003987491]|not provided [RCV000320512] | likely pathogenic|uncertain significance | 1 | 156115057 | 156115057 | Human | 1 | name |
| 11641770 | CV270477 | single nucleotide variant | NM_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 significance | 1 | 156137223 | 156137223 | Human | 4 | name |
| 11642553 | CV272902 | single nucleotide variant | NM_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 significance | 1 | 156136367 | 156136367 | Human | 4 | name |
| 11638914 | CV273237 | single nucleotide variant | NM_170707.4(LMNA):c.263C>T (p.Ala88Val) | not provided [RCV000726266] | uncertain significance | 1 | 156115181 | 156115181 | Human | | name |
| 11642365 | CV274897 | single nucleotide variant | NM_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 significance | 1 | 156136370 | 156136370 | Human | 4 | name |
| 11647082 | CV276609 | single nucleotide variant | NM_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 dystroph y [RCV000371803]|Familial partial lipodystrophy, Dunnigan type [RCV000342879]|Hutchinson-Gilford syndrome [RCV000389042]|Lethal tight skin contracture syndrome [RCV000335629]|Limb-girdle muscular dystrophy, recessive [RCV000281871]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000294652]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000337024]|Primary dilated cardiomyopathy [RCV003231436]|not provided [RCV000497577] | likely risk allele|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156115213 | 156115213 | Human | 13 | name |
| 11578013 | CV276614 | single nucleotide variant | NM_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 1 A [RCV000329882]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001097147]|Emery-Dreifuss muscular dystrophy [RCV000283389]|Familial partial lipodystrophy, Dunnigan type [RCV000295329]|Hutchinson-Gilford syndrome [RCV000279873]|Lethal tight skin contracture syndrome [RCV000341138]|Limb-girdle muscular dystrophy, recessive [RCV000387328]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000337310]|Mandibuloacral dysplasia with type A lipodystrophy [RCV000272434]|Primary dilated cardiomyopathy [RCV003995796]|not provided [RCV000733840]|not specified [RCV000424743] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156137028 | 156137028 | Human | 17 | name |
| 12741929 | CV360804 | single nucleotide variant | NM_170707.4(LMNA):c.130G>T (p.Val44Phe) | Charcot-Marie-Tooth disease type 2 [RCV001861451]|Congenital muscular dystrophy [RCV000415420] | likely pathogenic|uncertain significance | 1 | 156115048 | 156115048 | Human | 3 | name |
| 12842657 | CV364525 | single nucleotide variant | NM_170707.4(LMNA):c.1317C>T (p.Arg439=) | Cardiomyopathy [RCV001179845]|Cardiovascular phenotype [RCV002379365]|Charcot-Marie-Tooth disease type 2 [RCV000542009]|not specified [RCV000434819] | likely benign | 1 | 156136373 | 156136373 | Human | 3 | name |
| 12837964 | CV364527 | single nucleotide variant | NM_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 disorder [RCV004530539]|Primary dilated cardiomyopathy [RCV003995963]|not provided [RCV004808703]|not specified [RCV000426097] | likely benign | 1 | 156138646 | 156138646 | Human | 19 | name , alternate_id |
| 12837156 | CV364558 | single nucleotide variant | NM_170707.4(LMNA):c.1209C>T (p.Ser403=) | Cardiovascular phenotype [RCV002356611]|Charcot-Marie-Tooth disease type 2 [RCV002522563]|not specified [RCV000424680] | likely benign | 1 | 156136265 | 156136265 | Human | 1 | name |
| 12839013 | CV364564 | single nucleotide variant | NM_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 benign | 1 | 156137229 | 156137229 | Human | 3 | name |
| 12833093 | CV364565 | single nucleotide variant | NM_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 benign | 1 | 156137707 | 156137707 | Human | 18 | name |
| 12835411 | CV364567 | single nucleotide variant | NM_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 significance | 1 | 156138652 | 156138652 | Human | 4 | name |
| 12884573 | CV390821 | single nucleotide variant | NM_170707.4(LMNA):c.137T>A (p.Ile46Asn) | Charcot-Marie-Tooth disease type 2 [RCV000463697] | uncertain significance | 1 | 156115055 | 156115055 | Human | 1 | name |
| 12889502 | CV390823 | single nucleotide variant | NM_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 significance | 1 | 156115208 | 156115208 | Human | 18 | name |
| 12881372 | CV390827 | single nucleotide variant | NM_170707.4(LMNA):c.122G>A (p.Arg41His) | Charcot-Marie-Tooth disease type 2 [RCV000457713]|not provided [RCV000994129] | pathogenic|likely pathogenic | 1 | 156115040 | 156115040 | Human | 1 | name |
| 12890633 | CV390828 | single nucleotide variant | NM_170707.4(LMNA):c.1818G>A (p.Gln606=) | Cardiovascular phenotype [RCV002411548]|Charcot-Marie-Tooth disease type 2 [RCV001430471] | likely benign | 1 | 156138607 | 156138607 | Human | 1 | name |
| 12888112 | CV390851 | single nucleotide variant | NM_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 benign | 1 | 156136035 | 156136035 | Human | 3 | name |
| 12894542 | CV404949 | deletion | NM_170707.4(LMNA):c.835del (p.Glu279fs) | not provided [RCV000483218] | pathogenic|likely pathogenic | 1 | 156135211 | 156135211 | Human | | name |
| 12905849 | CV413249 | single nucleotide variant | NM_170707.4(LMNA):c.158A>G (p.Glu53Gly) | Charcot-Marie-Tooth disease type 2 [RCV000816556]|not provided [RCV000488077] | pathogenic|likely pathogenic | 1 | 156115076 | 156115076 | Human | 1 | name |
| 12905968 | CV413251 | single nucleotide variant | NM_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 significance | 1 | 156138553 | 156138553 | Human | 2 | name |
| 13444706 | CV437672 | single nucleotide variant | NM_170707.4(LMNA):c.234G>T (p.Lys78Asn) | Arrhythmogenic right ventricular dysplasia 9 [RCV000511737] | likely pathogenic | 1 | 156115152 | 156115152 | Human | 1 | name |
| 13484237 | CV440360 | single nucleotide variant | NM_170707.4(LMNA):c.122G>T (p.Arg41Leu) | Charcot-Marie-Tooth disease type 2 [RCV000653844]|not specified [RCV000518408] | pathogenic|likely pathogenic|uncertain significance | 1 | 156115040 | 156115040 | Human | 1 | name |
| 13468897 | CV447238 | single nucleotide variant | NM_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 benign | 1 | 156138574 | 156138574 | Human | 4 | name |
| 13515243 | CV491140 | single nucleotide variant | NM_170707.4(LMNA):c.1134G>A (p.Lys378=) | not provided [RCV000594039] | uncertain significance | 1 | 156136098 | 156136098 | Human | | name |
| 13515647 | CV493348 | single nucleotide variant | NM_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 significance | 1 | 156136011 | 156136011 | Human | 3 | name |
| 13521481 | CV495081 | duplication | NM_170707.4(LMNA):c.978dup (p.Leu327fs) | not provided [RCV000599487] | pathogenic | 1 | 156135941 | 156135942 | Human | | name |
| 13532266 | CV498125 | single nucleotide variant | NM_170707.4(LMNA):c.1029G>C (p.Arg343=) | Cardiovascular phenotype [RCV002385926]|Charcot-Marie-Tooth disease type 2 [RCV000977041]|not specified [RCV000601305] | likely benign | 1 | 156135993 | 156135993 | Human | 1 | name |
| 13531537 | CV498132 | single nucleotide variant | NM_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 benign | 1 | 156137725 | 156137725 | Human | 4 | name |
| 13529929 | CV509109 | single nucleotide variant | NM_170707.4(LMNA):c.109G>A (p.Glu37Lys) | Cardiomyopathy [RCV001179396]|Cardiovascular phenotype [RCV000622121]|Charcot-Marie-Tooth disease type 2 [RCV001855271] | uncertain significance | 1 | 156115027 | 156115027 | Human | 3 | name |
| 13529811 | CV509110 | single nucleotide variant | NM_170707.4(LMNA):c.149G>A (p.Arg50His) | Cardiovascular phenotype [RCV000621982]|Charcot-Marie-Tooth disease type 2 [RCV001233815]|Primary dilated cardiomyopathy [RCV004807041] | uncertain significance | 1 | 156115067 | 156115067 | Human | 2 | name |
| 13534717 | CV509111 | single nucleotide variant | NM_170707.4(LMNA):c.236C>A (p.Ala79Asp) | Cardiovascular phenotype [RCV000618926]|Charcot-Marie-Tooth disease type 2 [RCV000653951]|Primary dilated cardiomyopathy [RCV004002671] | uncertain significance | 1 | 156115154 | 156115154 | Human | 2 | name |
| 13530012 | CV509121 | single nucleotide variant | NM_170707.4(LMNA):c.1185G>T (p.Ser395=) | Cardiovascular phenotype [RCV000622231]|Charcot-Marie-Tooth disease type 2 [RCV001488038] | likely benign | 1 | 156136241 | 156136241 | Human | 1 | name |
| 13625755 | CV515103 | single nucleotide variant | NM_170707.4(LMNA):c.241T>C (p.Tyr81His) | Charcot-Marie-Tooth disease type 2 [RCV000653914]|not provided [RCV001289082] | likely pathogenic|uncertain significance | 1 | 156115159 | 156115159 | Human | 1 | name |
| 13625714 | CV515137 | single nucleotide variant | NM_170707.4(LMNA):c.182T>C (p.Leu61Pro) | Charcot-Marie-Tooth disease type 2 [RCV000653850] | uncertain significance | 1 | 156115100 | 156115100 | Human | 1 | name |
| 13625715 | CV515157 | single nucleotide variant | NM_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 significance | 1 | 156115204 | 156115204 | Human | 18 | name |
| 13625760 | CV515159 | duplication | NM_170707.4(LMNA):c.729dup (p.Ala244fs) | Charcot-Marie-Tooth disease type 2 [RCV000653919] | pathogenic | 1 | 156134893 | 156134894 | Human | 1 | name |
| 13625811 | CV515170 | single nucleotide variant | NM_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 significance | 1 | 156138538 | 156138538 | Human | 4 | name |
| 13625788 | CV515171 | single nucleotide variant | NM_170707.4(LMNA):c.1890G>A (p.Gly630=) | Cardiovascular phenotype [RCV002406474]|Charcot-Marie-Tooth disease type 2 [RCV000653961]|Primary dilated cardiomyopathy [RCV004004115] | likely benign | 1 | 156138679 | 156138679 | Human | 2 | name |
| 13625799 | CV515282 | single nucleotide variant | NM_170707.4(LMNA):c.1173C>T (p.Pro391=) | Cardiomyopathy [RCV003532225]|Cardiovascular phenotype [RCV002331267]|Charcot-Marie-Tooth disease type 2 [RCV000654012] | likely benign | 1 | 156136229 | 156136229 | Human | 3 | name |
| 13794581 | CV552035 | single nucleotide variant | NM_170707.4(LMNA):c.113T>A (p.Leu38His) | Congenital muscular dystrophy due to LMNA mutation [RCV000680034] | uncertain significance | 1 | 156115031 | 156115031 | Human | 1 | name |
| 13815278 | CV558140 | single nucleotide variant | NM_170707.4(LMNA):c.184C>T (p.Arg62Cys) | Charcot-Marie-Tooth disease type 2 [RCV000691484] | likely pathogenic | 1 | 156115102 | 156115102 | Human | 1 | name |
| 13810274 | CV576412 | single nucleotide variant | NM_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 significance | 1 | 156115186 | 156115186 | Human | 3 | name |
| 13833852 | CV585092 | single nucleotide variant | NM_170707.4(LMNA):c.1827A>T (p.Gly609=) | Cardiovascular phenotype [RCV002406662]|Charcot-Marie-Tooth disease type 2 [RCV001443776]|not provided [RCV000729234] | likely benign|uncertain significance | 1 | 156138616 | 156138616 | Human | 1 | name |
| 13838336 | CV589638 | single nucleotide variant | NM_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 significance | 1 | 156137154 | 156137154 | Human | 3 | name |
| 14692262 | CV616009 | single nucleotide variant | NM_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 benign | 1 | 156137704 | 156137704 | Human | 6 | name |
| 14737490 | CV626904 | single nucleotide variant | NM_170707.4(LMNA):c.116A>T (p.Asn39Ile) | Charcot-Marie-Tooth disease type 2 [RCV000804081] | likely pathogenic|uncertain significance | 1 | 156115034 | 156115034 | Human | 1 | name |
| 14735844 | CV626905 | single nucleotide variant | NM_170707.4(LMNA):c.121C>A (p.Arg41Ser) | Charcot-Marie-Tooth disease type 2 [RCV000803355]|not provided [RCV003133634] | pathogenic|uncertain significance | 1 | 156115039 | 156115039 | Human | 1 | name |
| 14728863 | CV626906 | single nucleotide variant | NM_170707.4(LMNA):c.143G>C (p.Arg48Pro) | Charcot-Marie-Tooth disease type 2 [RCV000800232]|not provided [RCV003235401] | pathogenic|likely pathogenic | 1 | 156115061 | 156115061 | Human | 1 | name |
| 14715045 | CV626907 | single nucleotide variant | NM_170707.4(LMNA):c.143G>T (p.Arg48Leu) | Charcot-Marie-Tooth disease type 2 [RCV000811094] | likely pathogenic|uncertain significance | 1 | 156115061 | 156115061 | Human | 1 | name |
| 14738644 | CV626908 | single nucleotide variant | NM_170707.4(LMNA):c.191C>A (p.Thr64Asn) | Cardiovascular phenotype [RCV002408979]|Charcot-Marie-Tooth disease type 2 [RCV000821015] | uncertain significance | 1 | 156115109 | 156115109 | Human | 1 | name |
| 14711895 | CV626909 | single nucleotide variant | NM_170707.4(LMNA):c.214C>T (p.Arg72Cys) | Charcot-Marie-Tooth disease type 2 [RCV000810112] | uncertain significance | 1 | 156115132 | 156115132 | Human | 1 | name |
| 126764047 | CV653929 | single nucleotide variant | NM_170707.4(LMNA):c.152C>T (p.Ser51Leu) | Cardiomyopathy [RCV005402966]|Cardiovascular phenotype [RCV005405328]|Charcot-Marie-Tooth disease type 2 [RCV001341510] | uncertain significance | 1 | 156115070 | 156115070 | Human | 3 | name |
| 14975421 | CV672372 | single nucleotide variant | NM_170707.4(LMNA):c.296G>C (p.Arg99Pro) | Primary familial dilated cardiomyopathy [RCV000845422] | likely pathogenic | 1 | 156115214 | 156115214 | Human | 1 | name |
| 15142047 | CV685575 | single nucleotide variant | NM_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 1 A [RCV001100370]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001102348]|Emery-Dreifuss muscular dystrophy [RCV001102349]|Familial partial lipodystrophy, Dunnigan type [RCV001102351]|Hutchinson-Gilford syndrome [RCV001102353]|Lethal tight skin contracture syndrome [RCV001100367]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001102350]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001100368]|Primary dilated cardiomyopathy [RCV004002962]|not provided [RCV001726349]|not specified [RCV001700317] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156136283 | 156136283 | Human | 16 | name |
| 15150756 | CV685576 | single nucleotide variant | NM_170707.4(LMNA):c.1317C>A (p.Arg439=) | Cardiomyopathy [RCV001180949]|Cardiovascular phenotype [RCV002381942]|Charcot-Marie-Tooth disease type 2 [RCV001422364] | likely benign | 1 | 156136373 | 156136373 | Human | 3 | name |
| 15122570 | CV690377 | single nucleotide variant | NM_170707.4(LMNA):c.1407C>A (p.Ile469=) | Charcot-Marie-Tooth disease type 2 [RCV001441213] | likely benign | 1 | 156136947 | 156136947 | Human | 1 | name |
| 15124595 | CV690378 | single nucleotide variant | NM_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 benign | 1 | 156138544 | 156138544 | Human | 4 | name |
| 15133311 | CV745735 | single nucleotide variant | NM_170707.4(LMNA):c.1374C>T (p.Ser458=) | Charcot-Marie-Tooth disease type 2 [RCV001493966] | likely benign | 1 | 156136430 | 156136430 | Human | 1 | name |
| 15166803 | CV745736 | single nucleotide variant | NM_170707.4(LMNA):c.1701C>T (p.Gly567=) | Charcot-Marie-Tooth disease type 2 [RCV001473294] | likely benign | 1 | 156138490 | 156138490 | Human | 1 | name |
| 15140076 | CV745737 | single nucleotide variant | NM_170707.4(LMNA):c.1767G>C (p.Gly589=) | not provided [RCV000921619] | likely benign | 1 | 156138556 | 156138556 | Human | | name |
| 15165186 | CV745738 | single nucleotide variant | NM_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 benign | 1 | 156138730 | 156138730 | Human | 3 | name , alternate_id |
| 15177020 | CV761251 | single nucleotide variant | NM_170707.4(LMNA):c.1161A>G (p.Leu387=) | not provided [RCV000929056] | likely benign | 1 | 156136217 | 156136217 | Human | | name |
| 15195655 | CV761252 | single nucleotide variant | NM_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 benign | 1 | 156136317 | 156136317 | Human | 5 | name |
| 15172803 | CV761253 | single nucleotide variant | NM_170707.4(LMNA):c.1383C>T (p.Asp461=) | Charcot-Marie-Tooth disease type 2 [RCV001455182] | likely benign | 1 | 156136923 | 156136923 | Human | 1 | name |
| 15189534 | CV761254 | single nucleotide variant | NM_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 benign | 1 | 156136953 | 156136953 | Human | 4 | name |
| 15202654 | CV761255 | single nucleotide variant | NM_170707.4(LMNA):c.1899G>A (p.Gly633=) | Charcot-Marie-Tooth disease type 2 [RCV001462654] | likely benign | 1 | 156138688 | 156138688 | Human | 1 | name |
| 15118733 | CV780346 | single nucleotide variant | NM_170707.4(LMNA):c.1011G>C (p.Leu337=) | Charcot-Marie-Tooth disease type 2 [RCV000979001] | likely benign | 1 | 156135975 | 156135975 | Human | 1 | name |
| 21071842 | CV794448 | single nucleotide variant | NM_170707.4(LMNA):c.122G>C (p.Arg41Pro) | not provided [RCV000994130] | likely pathogenic | 1 | 156115040 | 156115040 | Human | | name |
| 21071848 | CV794449 | single nucleotide variant | NM_170707.4(LMNA):c.1146C>A (p.Gly382=) | not provided [RCV000994132] | likely pathogenic | 1 | 156136110 | 156136110 | Human | | name |
| 21071857 | CV794451 | single nucleotide variant | NM_170707.4(LMNA):c.1182C>T (p.Thr394=) | Cardiovascular phenotype [RCV002337050]|Charcot-Marie-Tooth disease type 2 [RCV001439975]|not provided [RCV000994134] | likely benign|uncertain significance | 1 | 156136238 | 156136238 | Human | 1 | name |
| 26918914 | CV822790 | single nucleotide variant | NM_170707.4(LMNA):c.136A>C (p.Ile46Leu) | Charcot-Marie-Tooth disease type 2 [RCV001058402] | uncertain significance | 1 | 156115054 | 156115054 | Human | 1 | name |
| 28893335 | CV903711 | single nucleotide variant | NM_170707.4(LMNA):c.230T>A (p.Ile77Asn) | Cardiomyopathy [RCV001170449] | uncertain significance | 1 | 156115148 | 156115148 | Human | 2 | name |
| 34891919 | CV905108 | single nucleotide variant | NM_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 benign | 1 | 156136056 | 156136056 | Human | 5 | name |
| 34890496 | CV906399 | single nucleotide variant | NM_170707.4(LMNA):c.141C>A (p.Asp47Glu) | Cardiomyopathy [RCV001182106] | uncertain significance | 1 | 156115059 | 156115059 | Human | 2 | name |
| 34894419 | CV906403 | single nucleotide variant | NM_170707.4(LMNA):c.206T>C (p.Val69Ala) | Cardiomyopathy [RCV001177272] | uncertain significance | 1 | 156115124 | 156115124 | Human | 2 | name |
| 34897752 | CV906404 | single nucleotide variant | NM_170707.4(LMNA):c.215G>A (p.Arg72His) | Cardiomyopathy [RCV001186710]|Cardiovascular phenotype [RCV005405531] | likely pathogenic|uncertain significance | 1 | 156115133 | 156115133 | Human | 2 | name |
| 34897483 | CV906429 | single nucleotide variant | NM_170707.4(LMNA):c.1077C>T (p.Tyr359=) | Cardiomyopathy [RCV001186500]|Charcot-Marie-Tooth disease type 2 [RCV001405135] | likely benign | 1 | 156136041 | 156136041 | Human | 3 | name |
| 34898368 | CV906432 | single nucleotide variant | NM_170707.4(LMNA):c.1230G>A (p.Gln410=) | Cardiomyopathy [RCV001187184]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005040002]|Primary dilated cardiomyopathy [RCV004008679] | likely benign|uncertain significance | 1 | 156136286 | 156136286 | Human | 5 | name |
| 34893147 | CV906434 | single nucleotide variant | NM_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 benign | 1 | 156136292 | 156136292 | Human | 4 | name |
| 34897086 | CV906442 | single nucleotide variant | NM_170707.4(LMNA):c.1407C>T (p.Ile469=) | Cardiomyopathy [RCV001186168] | likely benign | 1 | 156136947 | 156136947 | Human | 2 | name |
| 34897298 | CV906443 | single nucleotide variant | NM_170707.4(LMNA):c.1482G>A (p.Val494=) | Cardiomyopathy [RCV001186353] | likely benign | 1 | 156137022 | 156137022 | Human | 2 | name |
| 34896549 | CV906445 | single nucleotide variant | NM_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 benign | 1 | 156137160 | 156137160 | Human | 4 | name |
| 34894956 | CV906452 | single nucleotide variant | NM_170707.4(LMNA):c.1701C>A (p.Gly567=) | Cardiomyopathy [RCV001185040] | likely benign | 1 | 156138490 | 156138490 | Human | 2 | name |
| 34896903 | CV906455 | single nucleotide variant | NM_170707.4(LMNA):c.1746C>T (p.Arg582=) | Cardiomyopathy [RCV001186008]|Charcot-Marie-Tooth disease type 2 [RCV001455621] | likely benign | 1 | 156138535 | 156138535 | Human | 3 | name |
| 34897461 | CV906457 | single nucleotide variant | NM_170707.4(LMNA):c.1827A>G (p.Gly609=) | Cardiomyopathy [RCV001179184] | likely benign | 1 | 156138616 | 156138616 | Human | 2 | name |
| 34891600 | CV906458 | single nucleotide variant | NM_170707.4(LMNA):c.1830C>T (p.Pro610=) | Cardiomyopathy [RCV001182597] | likely benign | 1 | 156138619 | 156138619 | Human | 2 | name |
| 34897389 | CV906465 | single nucleotide variant | NM_170707.4(LMNA):c.1947C>A (p.Gly649=) | Cardiomyopathy [RCV001186425] | likely benign | 1 | 156138736 | 156138736 | Human | 2 | name |
| 38463012 | CV918566 | single nucleotide variant | NM_170707.4(LMNA):c.1488G>C (p.Thr496=) | Dilated cardiomyopathy 1A [RCV001198820] | uncertain significance | 1 | 156137028 | 156137028 | Human | 2 | name |
| 38476043 | CV930061 | single nucleotide variant | NM_170707.4(LMNA):c.115A>C (p.Asn39His) | Charcot-Marie-Tooth disease type 2 [RCV001204509] | likely pathogenic|uncertain significance | 1 | 156115033 | 156115033 | Human | 1 | name |
| 38464591 | CV952090 | single nucleotide variant | NM_170707.4(LMNA):c.185G>T (p.Arg62Leu) | Charcot-Marie-Tooth disease type 2 [RCV001247423] | likely pathogenic|uncertain significance | 1 | 156115103 | 156115103 | Human | 1 | name |
| 126767627 | CV1022660 | single nucleotide variant | NM_170707.4(LMNA):c.470C>T (p.Thr157Met) | Cardiovascular phenotype [RCV002341704]|Charcot-Marie-Tooth disease type 2 [RCV001342901]|LMNA-related disorder [RCV004734130] | uncertain significance | 1 | 156130730 | 156130730 | Human | 1 | alternate_id |
| 126733026 | CV1022666 | single nucleotide variant | NM_170707.4(LMNA):c.1459T>C (p.Phe487Leu) | Charcot-Marie-Tooth disease type 2 [RCV001349706]|LMNA-related disorder [RCV004727177]|not provided [RCV003238864] | uncertain significance | 1 | 156136999 | 156136999 | Human | 1 | alternate_id |
| 9687838 | CV172489 | single nucleotide variant | NM_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 LMNA weight:700;'>LMNA mutation [RCV001101062]|Dilated cardiomyopathy 1A [RCV001101058]|Dilated cardiomyopathy 1S [RCV000491650]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005042294]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005359320]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001101055]|Hutchinson-Gilford syndrome [RCV001101061]|LMNA-related disorder [RCV004532675]|Lethal tight skin contracture syndrome [RCV001101057]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001100810]|Lipodystrophy [RCV001248958]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001101059]|Peripheral neuropathy [RCV000449630]|Primary dilated cardiomyopathy [RCV003998208]|Short stature [RCV001781492]|not provided [RCV000505801]|not specified [RCV000150955] | pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156137679 | 156137679 | Human | 34 | alternate_id |
| 10056809 | CV196461 | single nucleotide variant | NM_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 1 A [RCV001098191]|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [RCV005042395]|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001098184]|Emery-Dreifuss muscular dystrophy [RCV001098186]|Familial partial lipodystrophy, Dunnigan type [RCV001098189]|Hutchinson-Gilford syndrome [RCV001098190]|LMNA-related disorder [RCV004734805]|Lethal tight skin contracture syndrome [RCV001096448]|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV001096449]|Mandibuloacral dysplasia with type A lipodystrophy [RCV001098185]|Primary dilated cardiomyopathy [RCV003996714]|not provided [RCV000182356] | pathogenic|likely pathogenic|uncertain significance | 1 | 156130658 | 156130658 | Human | 20 | alternate_id |
| 10056818 | CV196479 | single nucleotide variant | NM_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 [ RCV004539704]|Primary dilated cardiomyopathy [RCV003996715]|not provided [RCV000182369]|not specified [RCV003479048] | likely pathogenic|uncertain significance | 1 | 156136335 | 156136335 | Human | 18 | alternate_id |
| 10056838 | CV196485 | indel | NM_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 significance | 1 | 156137756 | 156137757 | Human | | alternate_id |
| 156010124 | CV2045475 | single nucleotide variant | NM_170707.4(LMNA):c.1900G>T (p.Gly634Cys) | Charcot-Marie-Tooth disease type 2 [RCV002780094]|LMNA-related disorder [RCV004725370] | uncertain significance | 1 | 156138689 | 156138689 | Human | 1 | alternate_id |
| 11638010 | CV272513 | single nucleotide variant | NM_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 significance | 1 | 156138708 | 156138708 | Human | 4 | alternate_id |
| 401931700 | CV2801582 | single nucleotide variant | NM_170707.4(LMNA):c.631T>G (p.Tyr211Asp) | LMNA-related disorder [RCV004529272] | uncertain significance | 1 | 156134520 | 156134520 | Human | | trait , alternate_id |
| 8564268 | CV29525 | single nucleotide variant | NM_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 [RCV 000190399]|Familial partial lipodystrophy, Dunnigan type [RCV000015575]|LMNA-related disorder [RCV004532361]|Laminopathy [RCV000041318]|Monogenic diabetes [RCV000754814]|Primary dilated cardiomyopathy [RCV004806012]|not provided [RCV000057299] | pathogenic|uncertain significance|no classifications from unflagged records|not provided | 1 | 156136985 | 156136985 | Human | 20 | alternate_id |
| 8564271 | CV29528 | single nucleotide variant | NM_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 ty pe [RCV000015579]|LMNA-related disorder [RCV004532362]|not provided [RCV000057298] | pathogenic|likely pathogenic|not provided | 1 | 156136984 | 156136984 | Human | 17 | alternate_id |
| 8564275 | CV29533 | single nucleotide variant | NM_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]|LMNA >-related disorder [RCV004532363]|Primary dilated cardiomyopathy [RCV003996099]|not provided [RCV000057353] | pathogenic|likely pathogenic|uncertain significance|not provided | 1 | 156138534 | 156138534 | Human | 18 | alternate_id |
| 8564305 | CV29563 | single nucleotide variant | NM_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 provided | 1 | 156134910 | 156134910 | Human | 2 | alternate_id |
| 8564308 | CV29566 | single nucleotide variant | NM_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 l ipodystrophy, Dunnigan type [RCV002467497]|LMNA-related disorder [RCV004528114]|Monogenic diabetes [RCV001174411]|Primary dilated cardiomyopathy [RCV000148602]|Variant of unknown significance [RCV000015626]|not provided [RCV000057374]|not specified [RCV000041340] | likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided | 1 | 156138719 | 156138719 | Human | 20 | alternate_id |
| 408375987 | CV3506750 | single nucleotide variant | NM_170707.4(LMNA):c.454C>T (p.Leu152Phe) | LMNA-related disorder [RCV004726488] | uncertain significance | 1 | 156130714 | 156130714 | Human | | trait , alternate_id |
| 408369052 | CV3507873 | single nucleotide variant | NM_170707.4(LMNA):c.1325T>A (p.Val442Glu) | LMNA-related disorder [RCV004736521] | likely pathogenic | 1 | 156136381 | 156136381 | Human | | trait , alternate_id |
| 12892167 | CV390809 | single nucleotide variant | NM_170707.4(LMNA):c.352G>T (p.Ala118Ser) | Charcot-Marie-Tooth disease type 2 [RCV000459194]|LMNA-related disorder [RCV004735540] | uncertain significance | 1 | 156115270 | 156115270 | Human | 1 | alternate_id |
| 616933308 | CV4011407 | single nucleotide variant | NM_170707.4(LMNA):c.1398T>G (p.Asn466Lys) | LMNA-related disorder [RCV005407488] | pathogenic | 1 | 156136938 | 156136938 | Human | | trait , alternate_id |
| 8602919 | CV45135 | single nucleotide variant | NM_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 [RCV002477025 ]|Heart-hand syndrome, Slovenian type [RCV000721960]|LMNA-related disorder [RCV004532421]|Left ventricular noncompaction [RCV000845456]|Primary dilated cardiomyopathy [RCV000030145]|Primary dilated cardiomyopathy [RCV000844672]|Primary familial dilated cardiomyopathy [RCV003492303]|not provided [RCV000182368] | pathogenic|likely pathogenic | 1 | 156135967 | 156135967 | Human | 23 | alternate_id |
| 13529871 | CV509124 | indel | NM_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 significance | 1 | 156138662 | 156138663 | Human | | alternate_id |
| 8610912 | CV57211 | single nucleotide variant | NM_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 significance | 1 | 156137701 | 156137701 | Human | 4 | alternate_id |
| 8610917 | CV57216 | single nucleotide variant | NM_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]| LMNA-related disorder [RCV004541208]|not provided [RCV000057361]|not specified [RCV000041334] | likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided | 1 | 156138593 | 156138593 | Human | 6 | alternate_id |
| 8610918 | CV57217 | single nucleotide variant | NM_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 cardiomyopa thy [RCV003996459]|not provided [RCV003320549] | uncertain significance | 1 | 156138614 | 156138614 | Human | 18 | alternate_id |
| 8610921 | CV57220 | single nucleotide variant | NM_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 significance | 1 | 156138701 | 156138701 | Human | 3 | alternate_id |
| 8573365 | CV57234 | single nucleotide variant | NM_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 pro vided [RCV000057427] | pathogenic|likely pathogenic|not provided | 1 | 156134496 | 156134496 | Human | 13 | alternate_id |
| 8610954 | CV57256 | single nucleotide variant | NM_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]|P rimary dilated cardiomyopathy [RCV004806042]|not provided [RCV000726532]|not specified [RCV000041378] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156135271 | 156135271 | Human | 7 | alternate_id |
| 8610955 | CV57257 | single nucleotide variant | NM_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 d ilated cardiomyopathy [RCV001251293]|not provided [RCV000057489]|not specified [RCV001000784] | pathogenic|likely pathogenic|not provided | 1 | 156135913 | 156135913 | Human | 7 | alternate_id |
| 8610960 | CV57262 | single nucleotide variant | NM_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 d ilated cardiomyopathy [RCV003235003]|See cases [RCV004797773]|not provided [RCV000182367] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 1 | 156135956 | 156135956 | Human | 7 | alternate_id |
| 8622488 | CV77508 | single nucleotide variant | NM_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 disorder [RCV004734614]|Primary dilated cardiomyopathy [RCV003996491]|not provided [RCV000057045] | uncertain significance|not provided | 1 | 156137756 | 156137756 | Human | 19 | alternate_id |
| 8622666 | CV77688 | single nucleotide variant | NM_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 provided | 1 | 156115034 | 156115034 | Human | 3 | alternate_id |
| 8622679 | CV77701 | single nucleotide variant | NM_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 [RCV004 537256]|Primary dilated cardiomyopathy [RCV003996503]|not provided [RCV000057267] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided | 1 | 156136371 | 156136371 | Human | 7 | alternate_id |
| 8622734 | CV77757 | single nucleotide variant | NM_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]|LMNA e='font-weight:700;'>LMNA-related disorder [RCV003335086]|Primary dilated cardiomyopathy [RCV000221013]|not provided [RCV000057344] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided | 1 | 156137667 | 156137667 | Human | 9 | alternate_id |
| 8622781 | CV77805 | single nucleotide variant | NM_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 provided | 1 | 156134457 | 156134457 | Human | 3 | alternate_id |
| 41406917 | CV982360 | single nucleotide variant | NM_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 significance | 1 | 156135208 | 156135208 | Human | 3 | alternate_id |
| 150513313 | CV1228967 | deletion | NM_170707.4(LMNA):c.357-3588_357-3580del | not provided [RCV001637809] | benign | 1 | 156127024 | 156127032 | Human | | name |
| 38460210 | CV941503 | single nucleotide variant | NM_170707.4(LMNA):c.1767G>T (p.Gly589=) | Charcot-Marie-Tooth disease type 2 [RCV001229302]|Primary dilated cardiomyopathy [RCV004807476] | likely benign|uncertain significance | 1 | 156138556 | 156138556 | Human | 2 | name |