Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)	SNV Germline	Chr1:156114934	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy Condition: not provided	Criteria Provided Single Submitter	CA017675	rs_61046466	4 SubmittersRCV000015564 RCV000041328 RCV000057350
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	SNV Germline	Chr1:156136413	Pathogenic/Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Muscular dystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Abnormality of the musculature Congenital muscular dystrophy due to LMNA mutation Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017033	rs_58932704	22 SubmittersRCV000015565 RCV000057273 RCV000500734 RCV000472112 RCV001095717 RCV001813989 RCV003313922 RCV004639121
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly)	SNV Germline	Chr1:156115096	Pathogenic	Familial partial lipodystrophy, Dunnigan type Dilated cardiomyopathy 1A Condition: not provided	No Assertion Criteria Provided	CA017722	rs_28928900	2 SubmittersRCV000015567 RCV000015566 RCV000057359
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	SNV Germline/somatic	Chr1:156137204	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017498	rs_57520892	8 SubmittersRCV000015569 RCV000015570 RCV000057327 RCV000700159 RCV001375641 RCV004018633
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro)	SNV Germline	Chr1:156137213	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided	No Assertion Criteria Provided	CA017541	rs_60934003	2 SubmittersRCV000015571 RCV000057333
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)	SNV Germline	Chr1:156134474	Pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018275	rs_28933091	7 SubmittersRCV000015572 RCV000057425 RCV000211789 RCV000794743 RCV005589769
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)	SNV Germline	Chr1:156134497	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018298	rs_28933092	5 SubmittersRCV000015573 RCV000057428 RCV000211791 RCV003581565
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)	SNV Germline	Chr1:156137756	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1A Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017694	rs_80338938	11 SubmittersRCV000015574 RCV000057044 RCV000705473 RCV001189216 RCV003993745 RCV004018634
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	SNV Germline	Chr1:156136985	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Laminopathy Condition: not provided Emery-Dreifuss muscular dystrophy 3, autosomal recessive Charcot-Marie-Tooth disease type 2 Monogenic diabetes 11 conditions Cardiomyopathy Dilated cardiomyopathy 1A Cardiovascular phenotype Primary dilated cardiomyopathy LMNA-related disorder Lipodystrophy - childhood onset 7 conditions	Criteria Provided Conflicting Classifications	CA014814	rs_11575937	22 SubmittersRCV000015575 RCV000041318 RCV000057299 RCV000190399 RCV000459624 RCV000754814 RCV000763258 RCV001179839 RCV001822996 RCV002390111 RCV004806012 RCV004532361 RCV006629059 RCV005862720
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)	SNV Germline	Chr1:156137203	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy Condition: not provided Hutchinson-Gilford syndrome Cardiomyopathy Charcot-Marie-Tooth disease type 2 Congenital muscular dystrophy due to LMNA mutation Primary dilated cardiomyopathy Dilated cardiomyopathy 1A	Criteria Provided Conflicting Classifications	CA017487	rs_57318642	11 SubmittersRCV000015576 RCV000057324 RCV000192011 RCV001185736 RCV001223656 RCV002288492 RCV003996098 RCV003319169
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)	SNV Germline	Chr1:156130658	Pathogenic	Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford progeria syndrome, childhood-onset Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018044	rs_60864230	3 SubmittersRCV000015577 RCV000015578 RCV000057399 RCV001387326
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr1:156136984	Pathogenic/Likely pathogenic	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Familial partial lipodystrophy Cardiovascular phenotype 11 conditions LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA017258	rs_57920071	13 SubmittersRCV000015579 RCV000057298 RCV001235764 RCV001174239 RCV001248961 RCV002390112 RCV002482872 RCV004532362
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)	SNV Germline	Chr1:156136934	Pathogenic/Likely pathogenic	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017164	rs_61282106	4 SubmittersRCV000015584 RCV000057287 RCV001851878
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	SNV Germline	Chr1:156138534	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype LMNA-related disorder Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA020309	rs_57830985	9 SubmittersRCV000015585 RCV000057353 RCV001068657 RCV001804734 RCV002399327 RCV004532363 RCV003996099 RCV004795416
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)	SNV Germline	Chr1:156136094	Pathogenic	Condition: not provided Muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2 Sudden unexplained death Cardiovascular phenotype Dilated cardiomyopathy 1A Congenital muscular dystrophy due to LMNA mutation 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016651	rs_61672878	12 SubmittersRCV000057235 RCV000503996 RCV000681569 RCV000547164 RCV001089610 RCV002321484 RCV003319170 RCV005859465 RCV005042056
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	SNV Germline	Chr1:156135268	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B1 Condition: not provided Charcot-Marie-Tooth disease type 2 Autosomal recessive axonal hereditary motor and sensory neuropathy Hutchinson-Gilford syndrome Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Cardiovascular phenotype Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA018809	rs_59885338	22 SubmittersRCV000015590 RCV000057479 RCV000653885 RCV000826146 RCV000986429 RCV001176301 RCV002467495 RCV003162253 RCV003996100 RCV005042057
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	SNV Germline	Chr1:156137204	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy, atypical Condition: not provided Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA014822	rs_57520892	16 SubmittersRCV000015592 RCV000057326 RCV000015591 RCV000148607 RCV000555364 RCV001178367 RCV001174240 RCV002399328 RCV003996101 RCV005042058
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)	SNV Germline	Chr1:156138613	Pathogenic	Hutchinson-Gilford syndrome Condition: not provided Hutchinson-Gilford syndrome Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Restrictive dermopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA015291	rs_58596362	11 SubmittersRCV000015593 RCV000057364 RCV000150957 RCV000806737 RCV001847608
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)	SNV Germline	Chr1:156138611	Pathogenic	Hutchinson-Gilford syndrome Condition: not provided	No Assertion Criteria Provided	CA015235	rs_61064130	3 SubmittersRCV000015595 RCV000057363
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys)	SNV Germline	Chr1:156130693	Pathogenic	Hutchinson-Gilford progeria syndrome, atypical Condition: not provided Hutchinson-Gilford syndrome	No Assertion Criteria Provided	CA018095	rs_60310264	3 SubmittersRCV000015596 RCV000057406 RCV000192009
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)	SNV Germline	Chr1:156136951	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy, atypical Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017213	rs_28928902	9 SubmittersRCV000015597 RCV000057293 RCV001246687 RCV005582255
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	SNV Germline	Chr1:156130741	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018140	rs_28933093	19 SubmittersRCV000015598 RCV000057409 RCV000211788 RCV000687241 RCV001170451 RCV003318333 RCV004018635
NM_170707.4(LMNA):c.169G>C (p.Ala57Pro)	SNV Germline	Chr1:156115087	Pathogenic	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Condition: not provided	No Assertion Criteria Provided	CA017669	rs_28928903	2 SubmittersRCV000015600 RCV000057349
NM_170707.4(LMNA):c.419T>G (p.Leu140Arg)	SNV Germline	Chr1:156130679	Pathogenic	Hutchinson-Gilford progeria syndrome, childhood-onset Condition: not provided	No Assertion Criteria Provided	CA018076	rs_60652225	2 SubmittersRCV000015601 RCV000057403
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	SNV Germline	Chr1:156130658	Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018038	rs_60864230	3 SubmittersRCV000015602 RCV000057398 RCV000686691
NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn)	SNV Germline	Chr1:156137671	Pathogenic	Mandibuloacral dysplasia with type A lipodystrophy Condition: not provided	No Assertion Criteria Provided	CA017637	rs_56673169	2 SubmittersRCV000015603 RCV000057346
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)	SNV Germline	Chr1:156130688	Pathogenic	Congenital muscular dystrophy due to LMNA mutation Condition: not provided	No Assertion Criteria Provided	CA018089	rs_58912633	2 SubmittersRCV000015604 RCV000057405
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	SNV Germline	Chr1:156134942	Pathogenic/Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018615	rs_58048078	6 SubmittersRCV000015605 RCV000057457 RCV005089263
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)	SNV Germline	Chr1:156137017	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA017298	rs_56699480	4 SubmittersRCV000015609 RCV000057304 RCV004698335
NM_170707.4(LMNA):c.1821G>A (p.Val607=)	SNV Germline	Chr1:156138610	Pathogenic	Hutchinson-Gilford syndrome Condition: not provided	No Assertion Criteria Provided	CA015226	rs_59886214	3 SubmittersRCV000015611 RCV000057362
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)	SNV Germline	Chr1:156138507	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy, atypical Familial partial lipodystrophy, Dunnigan type not specified Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Cardiomyopathy Familial partial lipodystrophy Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation 11 conditions	Criteria Provided Conflicting Classifications	CA020299	rs_60890628	23 SubmittersRCV000015612 RCV000015613 RCV000015614 RCV000041329 RCV000057351 RCV000617932 RCV000653881 RCV001188887 RCV001248900 RCV002221478 RCV002509159 RCV005042059
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn)	SNV Germline	Chr1:156134853	Pathogenic	Familial partial lipodystrophy, Dunnigan type Condition: not provided	No Assertion Criteria Provided	CA018460	rs_61214927	2 SubmittersRCV000015615 RCV000057443
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)	SNV Germline	Chr1:156136251	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Primary dilated cardiomyopathy Cardiovascular phenotype 11 conditions	Criteria Provided Conflicting Classifications	CA016847	rs_58672172	10 SubmittersRCV000015616 RCV000057255 RCV000653937 RCV001188431 RCV001174241 RCV001257937 RCV002336085 RCV005042060
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)	SNV Germline	Chr1:156136374	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy, atypical Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease not specified Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA016999	rs_121912493	10 SubmittersRCV000015617 RCV000057268 RCV000552191 RCV001172618 RCV001264435 RCV001186220 RCV002381252 RCV003996102 RCV005049339
NM_170707.4(LMNA):c.1585G>A (p.Ala529Thr)	SNV Germline	Chr1:156137209	Pathogenic	Mandibuloacral dysplasia with type A lipodystrophy Condition: not provided	No Assertion Criteria Provided	CA017528	rs_121912494	2 SubmittersRCV000015619 RCV000057331
NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)	SNV Germline	Chr1:156136103	Pathogenic	Congenital muscular dystrophy due to LMNA mutation Condition: not provided	No Assertion Criteria Provided	CA016670	rs_121912495	2 SubmittersRCV000015620 RCV000057237
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	SNV Germline	Chr1:156134910	Pathogenic/Likely pathogenic	Congenital muscular dystrophy due to LMNA mutation Condition: not provided Charcot-Marie-Tooth disease type 2 LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA018559	rs_121912496	11 SubmittersRCV000015621 RCV000057452 RCV000814531 RCV005229797
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)	SNV Germline	Chr1:156136036	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation Condition: not provided Charcot-Marie-Tooth disease type 2 Muscular dystrophy Emery-Dreifuss muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA016555	rs_60458016	12 SubmittersRCV000015622 RCV000015623 RCV000057227 RCV000470514 RCV000502108 RCV001420791
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	SNV Germline	Chr1:156138719	Conflicting classifications of pathogenicity	Variant of unknown significance Condition: not provided not specified Primary dilated cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype Dilated cardiomyopathy 1A Cardiomyopathy Charcot-Marie-Tooth disease type 2 Monogenic diabetes Familial partial lipodystrophy, Dunnigan type LMNA-related disorder 11 conditions	Criteria Provided Conflicting Classifications	CA014882	rs_142000963	27 SubmittersRCV000015626 RCV000057374 RCV000041340 RCV000148602 RCV000144868 RCV000245284 RCV000755679 RCV000771143 RCV001084244 RCV001174411 RCV002467497 RCV004528114 RCV003224100
NM_170707.4(LMNA):c.176T>G (p.Leu59Arg)	SNV Germline	Chr1:156115094	Pathogenic	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Condition: not provided	No Assertion Criteria Provided	CA017717	rs_58922911	2 SubmittersRCV000015627 RCV000057357
NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly)	SNV Germline	Chr1:156137666	Pathogenic	Dilated cardiomyopathy 1A Condition: not provided	No Assertion Criteria Provided	CA017607	rs_56984562	2 SubmittersRCV000022641 RCV000057342
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	SNV Germline	Chr1:156135967	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Left ventricular noncompaction Heart-hand syndrome, Slovenian type Arrhythmogenic right ventricular cardiomyopathy Laminopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1A 11 conditions Cardiomyopathy Primary familial dilated cardiomyopathy LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA016426	rs_386134243	20 SubmittersRCV000030145 RCV000182368 RCV000546102 RCV000620788 RCV000845456 RCV000721960 RCV000852407 RCV000844672 RCV001196390 RCV002477025 RCV003149579 RCV003492303 RCV004532421
NM_170707.4(LMNA):c.1381-2A>G	SNV Germline	Chr1:156136919	Pathogenic	Congenital muscular dystrophy due to LMNA mutation Condition: not provided Cardiovascular phenotype	Criteria Provided Single Submitter	CA017133	rs_267607600	3 SubmittersRCV000030147 RCV000057284 RCV005403727
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	SNV Germline	Chr1:156136952	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Dilated cardiomyopathy 1A Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA017220	rs_267607578	18 SubmittersRCV000030148 RCV000057294 RCV000154177 RCV000621248 RCV000653872 RCV006547503
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)	SNV Germline	Chr1:156134839	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy 3, autosomal recessive Cardiomyopathy Charcot-Marie-Tooth disease type 2 Condition: not provided Abnormality of the musculature Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA018437	rs_199474724	9 SubmittersRCV000034134 RCV000190400 RCV001178806 RCV001384595 RCV001781340 RCV001814022 RCV003996150 RCV005042105
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro)	SNV Germline	Chr1:156136070	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy not specified Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA016599	rs_397517886	3 SubmittersRCV000041305 RCV000236658 RCV002513581
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	SNV Germline	Chr1:156136093	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2B1 Cardiovascular phenotype Dilated cardiomyopathy 1A Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy 2, autosomal dominant Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA016641	rs_397517889	14 SubmittersRCV000041308 RCV000223811 RCV000469099 RCV000592134 RCV003236576 RCV003343619 RCV004546422 RCV005402823
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)	SNV Germline	Chr1:156136110	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Neuromuscular disease Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA016690	rs_57508089	12 SubmittersRCV000041309 RCV000057239 RCV000468865 RCV000620488 RCV001775074
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)	SNV Germline	Chr1:156136241	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA016833	rs_397517890	4 SubmittersRCV000041311 RCV000725248 RCV000777976 RCV001441153
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)	SNV Germline	Chr1:156136257	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype Primary dilated cardiomyopathy not specified 11 conditions	Criteria Provided Conflicting Classifications	CA016870	rs_61094188	20 SubmittersRCV000057258 RCV000157295 RCV000172002 RCV000528639 RCV000769728 RCV001172616 RCV002345327 RCV003996453 RCV004767033 RCV005042118
NM_170707.4(LMNA):c.154C>G (p.Leu52Val)	SNV Germline	Chr1:156115072	Likely pathogenic	Primary dilated cardiomyopathy	Criteria Provided Single Submitter	CA017415	rs_397517895	1 SubmittersRCV000041321
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	SNV Germline	Chr1:156137190	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Mandibuloacral dysplasia with type A lipodystrophy Familial partial lipodystrophy, Dunnigan type Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA017459	rs_149339264	19 SubmittersRCV000041322 RCV000233927 RCV000242680 RCV000262946 RCV000289458 RCV000340752 RCV000320484 RCV000380292 RCV000377490 RCV000399953 RCV000777760 RCV001093764 RCV001098994 RCV001172631 RCV001310873
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)	SNV Germline	Chr1:156137666	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Laminopathy Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA017615	rs_56984562	13 SubmittersRCV000041325 RCV000057343 RCV000211786 RCV000242991 RCV000462793 RCV004786315 RCV006547559
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)	SNV Germline	Chr1:156137701	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy LMNA-related disorder Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA017656	rs_370219874	14 SubmittersRCV000041326 RCV000619881 RCV000726458 RCV001088399 RCV001180815 RCV004734589 RCV003996457
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)	SNV Germline	Chr1:156138540	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy 11 conditions Familial partial lipodystrophy, Dunnigan type Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA020327	rs_56657623	11 SubmittersRCV000041330 RCV000057355 RCV001065506 RCV001184222 RCV002504919 RCV002467559 RCV003162351
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)	SNV Germline	Chr1:156138562	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA020366	rs_397517897	9 SubmittersRCV000041333 RCV000530060 RCV001184223 RCV002399397 RCV003996458
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)	SNV Germline	Chr1:156138593	Conflicting classifications of pathogenicity	not specified Condition: not provided Insulin-resistant diabetes mellitus AND acanthosis nigricans Cardiovascular phenotype Cardiomyopathy Charcot-Marie-Tooth disease type 2 LMNA-related disorder Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Conflicting Classifications	CA014839	rs_60662302	16 SubmittersRCV000041334 RCV000057361 RCV000148601 RCV000617798 RCV000771799 RCV001088263 RCV004541208 RCV004820827
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)	SNV Germline	Chr1:156138640	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA015217	rs_143189394	15 SubmittersRCV000041336 RCV000234314 RCV000769733 RCV001173409 RCV001701583 RCV002408539 RCV003996460
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)	SNV Germline	Chr1:156138701	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy LMNA-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA015346	rs_144851946	11 SubmittersRCV000041338 RCV000725381 RCV001084443 RCV001188113 RCV004541209 RCV005403744
NM_170707.4(LMNA):c.266G>A (p.Arg89His)	SNV Germline	Chr1:156115184	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017833	rs_59040894	2 SubmittersRCV000041342 RCV005089375
NM_170707.4(LMNA):c.331G>C (p.Glu111Gln)	SNV Germline	Chr1:156115249	Likely pathogenic	not specified Dilated cardiomyopathy 1A	Criteria Provided Single Submitter	CA017897	rs_61726475	2 SubmittersRCV000041343 RCV004786316
NM_170707.4(LMNA):c.357C>T (p.Arg119=)	SNV Germline	Chr1:156130617	Conflicting classifications of pathogenicity	not specified Condition: not provided Emery-Dreifuss muscular dystrophy Primary dilated cardiomyopathy Cardiovascular phenotype Cardiomyopathy Charcot-Marie-Tooth disease type 2 Lethal tight skin contracture syndrome Emery-Dreifuss muscular dystrophy 2, autosomal dominant Hutchinson-Gilford syndrome Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease LMNA-related disorder	Criteria Provided Conflicting Classifications	CA014926	rs_41313880	27 SubmittersRCV000041345 RCV000057395 RCV000148598 RCV000211467 RCV000249770 RCV000768710 RCV001081311 RCV001096444 RCV001096445 RCV001096446 RCV001096447 RCV001101878 RCV001101879 RCV001101881 RCV001096443 RCV001101880 RCV001173420 RCV004528231
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	SNV Germline	Chr1:156115268	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Hypertrophic cardiomyopathy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation Lethal tight skin contracture syndrome Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2B1 Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy Familial partial lipodystrophy, Dunnigan type Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy 2, autosomal dominant Heart-hand syndrome, Slovenian type Familial partial lipodystrophy, Dunnigan type	Criteria Provided Conflicting Classifications	CA017949	rs_397517901	17 SubmittersRCV000041346 RCV000324940 RCV000653882 RCV000853426 RCV001007778 RCV001098094 RCV001098095 RCV001098092 RCV001098093 RCV001099881 RCV001099882 RCV001182267 RCV002336155 RCV003996462 RCV004558292 RCV005357279
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro)	SNV Germline	Chr1:156115274	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA017961	rs_397517902	6 SubmittersRCV000041347 RCV000767136 RCV003581568 RCV006547560
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr)	SNV Germline	Chr1:156130696	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA018101	rs_397517903	2 SubmittersRCV000041348 RCV000206666
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)	SNV Germline	Chr1:156130708	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018114	rs_58917027	4 SubmittersRCV000041350 RCV000057407 RCV001265661 RCV001852841
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro)	SNV Germline	Chr1:156130745	Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided	No Assertion Criteria Provided	CA018144	rs_267607594	2 SubmittersRCV000041352 RCV000057410
NM_170707.4(LMNA):c.513+1G>C	SNV Germline	Chr1:156130774	Likely pathogenic	Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018184	rs_397517904	2 SubmittersRCV000041353 RCV002513582
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)	SNV Germline	Chr1:156134496	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 8 conditions LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA018291	rs_61195471	9 SubmittersRCV000055999 RCV000057427 RCV000211790 RCV000618699 RCV000653912 RCV001824588 RCV004724769
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser)	SNV Germline	Chr1:156134518	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA018335	rs_267607572	5 SubmittersRCV000041357 RCV000057435 RCV005364914 RCV006461277
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	SNV Germline	Chr1:156134838	Pathogenic	Condition: not provided Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018429	rs_60682848	13 SubmittersRCV000057442 RCV000056001 RCV000194831 RCV000211792 RCV000464494 RCV001170453 RCV002362662
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)	SNV Germline	Chr1:156134865	Pathogenic	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018478	rs_267607573	6 SubmittersRCV000041360 RCV000057446 RCV000653900 RCV000618154 RCV003531940
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	SNV Germline	Chr1:156134890	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 11 conditions	Criteria Provided Conflicting Classifications	CA018498	rs_397517906	14 SubmittersRCV000041361 RCV000182361 RCV000157293 RCV000620828 RCV000770763 RCV000801882 RCV001258043 RCV001798224 RCV004698466 RCV005042120
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly)	SNV Germline	Chr1:156134910	Pathogenic/Likely pathogenic	Laminopathy Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA018552	rs_121912496	3 SubmittersRCV000041362 RCV000818791 RCV005638410
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)	SNV Germline	Chr1:156134949	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018633	rs_397517909	2 SubmittersRCV000041366 RCV003581570
NM_170707.4(LMNA):c.789G>A (p.Leu263=)	SNV Germline	Chr1:156134954	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018646	rs_148557956	13 SubmittersRCV000041367 RCV000617711 RCV000723485 RCV001085667 RCV001178117 RCV003996465
NM_170707.4(LMNA):c.78C>T (p.Ile26=)	SNV Germline	Chr1:156114996	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018652	rs_373721390	7 SubmittersRCV000041368 RCV000725413 RCV001079073 RCV001188883 RCV002415484
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)	SNV Germline	Chr1:156134964	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018657	rs_267607593	5 SubmittersRCV000041369 RCV000057461 RCV000617680 RCV002513583
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)	SNV Germline	Chr1:156135239	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA018775	rs_397517911	3 SubmittersRCV000041375 RCV005632207 RCV005089377
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)	SNV Germline	Chr1:156135244	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Myocarditis Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018785	rs_397517912	5 SubmittersRCV000041376 RCV000505709 RCV000692291 RCV002054813
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)	SNV Germline	Chr1:156135271	Conflicting classifications of pathogenicity	not specified Familial partial lipodystrophy, Dunnigan type Cardiovascular phenotype Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease LMNA-related disorder Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA014949	rs_150924946	13 SubmittersRCV000041378 RCV000148604 RCV000619864 RCV000726532 RCV000777745 RCV001086902 RCV001174244 RCV004734590 RCV004806042
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	SNV Germline	Chr1:156135913	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy not specified Primary familial dilated cardiomyopathy Dilated cardiomyopathy 1A Cardiovascular phenotype LMNA-related disorder Laminopathy	Criteria Provided Multiple Submitters No Conflicts	CA018878	rs_56816490	21 SubmittersRCV000041379 RCV000057489 RCV000560270 RCV000769726 RCV001000784 RCV001251293 RCV001775075 RCV002371856 RCV004541210 RCV006249573
NM_170707.4(LMNA):c.954G>A (p.Ala318=)	SNV Germline	Chr1:156135918	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Condition: not provided Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018888	rs_397517914	4 SubmittersRCV000041380 RCV001447601 RCV002225280 RCV003996466
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)	SNV Germline	Chr1:156135925	Pathogenic	Primary dilated cardiomyopathy Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Primary familial dilated cardiomyopathy 11 conditions Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018909	rs_267607554	11 SubmittersRCV000041382 RCV000057493 RCV000619789 RCV000686618 RCV002265579 RCV002483029 RCV005402824
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)	SNV Germline	Chr1:156135940	Conflicting classifications of pathogenicity	Condition: not provided Primary familial hypertrophic cardiomyopathy not specified Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A Cardiomyopathy Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA018917	rs_56851164	17 SubmittersRCV000057494 RCV000208012 RCV000212504 RCV000544253 RCV000621488 RCV000755678 RCV001192112 RCV003996467 RCV005042121
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)	SNV Germline	Chr1:156135956	Conflicting classifications of pathogenicity	Condition: not provided Primary dilated cardiomyopathy Cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Cardiovascular phenotype Primary familial dilated cardiomyopathy LMNA-related disorder See cases	Criteria Provided Conflicting Classifications	CA018936	rs_59301204	23 SubmittersRCV000182367 RCV000593819 RCV000769727 RCV001071970 RCV001265547 RCV002381325 RCV003235003 RCV003335073 RCV004797773
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)	SNV Germline	Chr1:156134809	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018372	rs_61295588	4 SubmittersRCV000056000 RCV000057438 RCV001382394 RCV002362688
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)	SNV Germline	Chr1:156135971	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA016433	rs_58105277	8 SubmittersRCV000057214 RCV000225878 RCV002426615 RCV002483086 RCV003996492 RCV006547573
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys)	SNV Germline	Chr1:156136003	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016456	rs_267607548	5 SubmittersRCV000057216 RCV001049424 RCV003996494 RCV004639132
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	SNV Germline	Chr1:156136009	Pathogenic/Likely pathogenic	Condition: not provided Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2 Monogenic diabetes 6 conditions 11 conditions Primary dilated cardiomyopathy Laminopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA016479	rs_267607555	12 SubmittersRCV000057218 RCV000500548 RCV000653911 RCV000754811 RCV000845011 RCV002504959 RCV003996495 RCV004786332 RCV005348065
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)	SNV Germline	Chr1:156136010	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016488	rs_58789393	4 SubmittersRCV000057219 RCV001854172 RCV003343625
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)	SNV Germline	Chr1:156115022	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA016503	rs_267607644	5 SubmittersRCV000057221 RCV000499410 RCV001231384
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr1:156136027	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA016527	rs_267607617	3 SubmittersRCV000057223 RCV000233611 RCV003886373
NM_170707.4(LMNA):c.1069G>C (p.Asp357His)	SNV Germline	Chr1:156136033	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA016542	rs_267607567	2 SubmittersRCV000057225 RCV001063774
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)	SNV Germline	Chr1:156136045	Pathogenic	Condition: not provided Muscular dystrophy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA016566	rs_267607634	3 SubmittersRCV000057229 RCV000504480 RCV001218431
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)	SNV Germline	Chr1:156136062	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA016587	rs_57901307	11 SubmittersRCV000057231 RCV000500477 RCV001178173 RCV001437348 RCV002453371 RCV003996496
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)	SNV Germline	Chr1:156136094	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Congenital muscular dystrophy due to LMNA mutation Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA016657	rs_61672878	10 SubmittersRCV000057236 RCV001237945 RCV002321554 RCV003448256 RCV003996497
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)	SNV Germline	Chr1:156136113	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial partial lipodystrophy, Dunnigan type Lethal tight skin contracture syndrome Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2B1	Criteria Provided Conflicting Classifications	CA016698	rs_267607603	9 SubmittersRCV000057240 RCV000259097 RCV000289312 RCV000324542 RCV000355460 RCV000293812 RCV000298159 RCV000327855 RCV000377531 RCV000536971 RCV000619516 RCV000776145 RCV001098597 RCV001093854
NM_170707.4(LMNA):c.1157+1G>A	SNV Germline	Chr1:156136122	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA016716	rs_267607590	3 SubmittersRCV000057242 RCV000621430 RCV002513736
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)	SNV Germline	Chr1:156136121	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA016734	rs_267607545	5 SubmittersRCV000057243 RCV003581572 RCV004819190
NM_170707.4(LMNA):c.1158-2A>G	SNV Germline	Chr1:156136212	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA016749	rs_267607636	2 SubmittersRCV000057245
NM_170707.4(LMNA):c.1163G>A (p.Arg388His)	SNV Germline	Chr1:156136219	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016807	rs_267607576	5 SubmittersRCV000057251 RCV000805453 RCV001257936 RCV004018987
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)	SNV Germline	Chr1:156115034	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 LMNA-related disorder Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA016815	rs_57983345	8 SubmittersRCV000057252 RCV000557302 RCV004545742 RCV005252725
NM_170707.4(LMNA):c.11C>G (p.Pro4Arg)	SNV Germline	Chr1:156114929	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA016863	rs_267607620	2 SubmittersRCV000057257 RCV000818990
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)	SNV Germline	Chr1:156136299	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 11 conditions Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016913	rs_267607606	9 SubmittersRCV000057260 RCV000534245 RCV000764982 RCV001191555 RCV002381362
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)	SNV Germline	Chr1:156136318	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy not specified Cardiovascular phenotype Primary dilated cardiomyopathy Laminopathy	Criteria Provided Conflicting Classifications	CA016923	rs_267607564	9 SubmittersRCV000057261 RCV000694118 RCV000772169 RCV002281901 RCV002444514 RCV003996501 RCV006249579
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)	SNV Germline	Chr1:156115045	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA016942	rs_60446065	4 SubmittersRCV000057262 RCV001225020
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	SNV Germline	Chr1:156136350	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016950	rs_267607618	7 SubmittersRCV000057263 RCV000216125 RCV000230676 RCV002381363 RCV005042174
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)	SNV Germline	Chr1:156136359	Conflicting classifications of pathogenicity	Condition: not provided Primary dilated cardiomyopathy Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Cardiomyopathy Cardiovascular phenotype 11 conditions	Criteria Provided Conflicting Classifications	CA014967	rs_150840924	13 SubmittersRCV000057265 RCV000148606 RCV000150953 RCV000653929 RCV001172619 RCV001524022 RCV002381364 RCV005042175
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)	SNV Germline	Chr1:156136371	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Familial partial lipodystrophy, Dunnigan type LMNA-related disorder Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2B1	Criteria Provided Conflicting Classifications	CA016991	rs_62636506	12 SubmittersRCV000057267 RCV001182564 RCV001225469 RCV002381365 RCV003326119 RCV004537256 RCV003996503 RCV004786333
NM_170707.4(LMNA):c.1337A>T (p.Asp446Val)	SNV Germline	Chr1:156136393	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017008	rs_58541611	2 SubmittersRCV000057269 RCV001248144
NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp)	SNV Germline	Chr1:156136402	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017024	rs_267607637	2 SubmittersRCV000057271 RCV000705578
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)	SNV Germline	Chr1:156115052	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA017029	rs_58436778	4 SubmittersRCV000057272 RCV000692072 RCV002468560
NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro)	SNV Germline	Chr1:156136414	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA017039	rs_267607598	3 SubmittersRCV000057274 RCV002513737 RCV005867842
NM_170707.4(LMNA):c.1361T>C (p.Leu454Pro)	SNV Germline	Chr1:156136417	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017048	rs_267607638	2 SubmittersRCV000057275 RCV003581573
NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro)	SNV Germline	Chr1:156136420	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017066	rs_267607597	2 SubmittersRCV000057276 RCV002514281
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp)	SNV Germline	Chr1:156136422	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017074	rs_267607599	5 SubmittersRCV000057277 RCV000465598
NM_170707.4(LMNA):c.1368C>A (p.Asn456Lys)	SNV Germline	Chr1:156136424	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA017098	rs_61235244	2 SubmittersRCV000057279
NM_170707.4(LMNA):c.136A>G (p.Ile46Val)	SNV Germline	Chr1:156115054	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017105	rs_267607615	3 SubmittersRCV000057281 RCV001230439
NM_170707.4(LMNA):c.1380+1G>A	SNV Germline	Chr1:156136437	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 8 conditions Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017128	rs_267607552	5 SubmittersRCV000057283 RCV000697969 RCV001535753 RCV002381366
NM_170707.4(LMNA):c.1399T>C (p.Trp467Arg)	SNV Germline	Chr1:156136939	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA017177	rs_267607639	2 SubmittersRCV000057289
NM_170707.4(LMNA):c.139G>C (p.Asp47His)	SNV Germline	Chr1:156115057	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017185	rs_267607608	2 SubmittersRCV000057290 RCV001319873
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)	SNV Germline	Chr1:156136951	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Familial partial lipodystrophy, Dunnigan type	Criteria Provided Conflicting Classifications	CA017206	rs_28928902	5 SubmittersRCV000057292 RCV002390204 RCV002514282 RCV004783737
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn)	SNV Germline	Chr1:156136998	Pathogenic	Familial partial lipodystrophy, Dunnigan type Condition: not provided	Criteria Provided Single Submitter	CA017283	rs_59981161	2 SubmittersRCV000193901 RCV000057302
NM_170707.4(LMNA):c.1488+1G>A	SNV Germline	Chr1:156137029	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017312	rs_267607640	4 SubmittersRCV000057305 RCV003298103 RCV003581574
NM_170707.4(LMNA):c.1488+5G>C	SNV Germline	Chr1:156137033	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017326	rs_267607543	4 SubmittersRCV000015610 RCV000057307 RCV003581575
NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys)	SNV Germline	Chr1:156137118	Likely pathogenic	Condition: not provided Primary familial dilated cardiomyopathy	Criteria Provided Single Submitter	CA017364	rs_57730570	2 SubmittersRCV000057312 RCV000624578
NM_170707.4(LMNA):c.149G>C (p.Arg50Pro)	SNV Germline	Chr1:156115067	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA017377	rs_60695352	2 SubmittersRCV000057314
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)	SNV Germline	Chr1:156137207	Pathogenic/Likely pathogenic	Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017504	rs_57629361	7 SubmittersRCV000057328 RCV000201062 RCV000986432 RCV001045262
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	SNV Germline	Chr1:156137207	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Familial partial lipodystrophy, Dunnigan type Abnormality of the musculature Congenital muscular dystrophy due to LMNA mutation Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017510	rs_57629361	9 SubmittersRCV000057329 RCV000472329 RCV000499741 RCV001814041 RCV003483458 RCV006342097
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)	SNV Germline	Chr1:156137207	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017516	rs_57629361	8 SubmittersRCV000057330 RCV001182566 RCV003996505 RCV004018988 RCV005089468
NM_170707.4(LMNA):c.1608+1G>A	SNV Germline	Chr1:156137233	Pathogenic	Condition: not provided Neuromuscular disease Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A 11 conditions Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017556	rs_267607592	7 SubmittersRCV000057335 RCV000150954 RCV000693979 RCV001196083 RCV002490641 RCV004629146
NM_170707.4(LMNA):c.1608+5G>C	SNV Germline	Chr1:156137237	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Cardiovascular phenotype	Criteria Provided Single Submitter	CA017561	rs_267607539	5 SubmittersRCV000015589 RCV000057336 RCV002390205
NM_170707.4(LMNA):c.1609-12T>G	SNV Germline	Chr1:156137642	Likely pathogenic	Heart-hand syndrome, Slovenian type Condition: not provided Primary dilated cardiomyopathy	Criteria Provided Single Submitter	CA017567	rs_267607582	3 SubmittersRCV000015618 RCV000057337 RCV005250008
NM_170707.4(LMNA):c.1609-3C>G	SNV Germline	Chr1:156137651	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA017576	rs_267607581	9 SubmittersRCV000057338 RCV000154514 RCV000503283 RCV001174242 RCV001854174 RCV002390206 RCV004537257
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)	SNV Germline	Chr1:156137664	Pathogenic	Condition: not provided Hutchinson-Gilford syndrome	Criteria Provided Single Submitter	CA017588	rs_267607547	3 SubmittersRCV000057340 RCV000192012
NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser)	SNV Germline	Chr1:156137666	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA017601	rs_56984562	3 SubmittersRCV000057341 RCV000823221 RCV004017361
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	SNV Germline	Chr1:156137667	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome LMNA-related disorder Congenital muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA017621	rs_61444459	16 SubmittersRCV000057344 RCV000221013 RCV000230467 RCV000246865 RCV001262710 RCV001836636 RCV003335086 RCV004018989 RCV005252726
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)	SNV Germline	Chr1:156137667	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA017630	rs_61444459	4 SubmittersRCV000057345 RCV005089469
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)	SNV Germline	Chr1:156137678	Conflicting classifications of pathogenicity	Condition: not provided Primary familial hypertrophic cardiomyopathy not specified Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease Cardiomyopathy Monogenic diabetes Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Criteria Provided Conflicting Classifications	CA017642	rs_267607613	15 SubmittersRCV000057347 RCV000208352 RCV000454519 RCV000785171 RCV000812762 RCV001004948 RCV001174246 RCV001185752 RCV001174410 RCV003996506 RCV005409612
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)	SNV Germline	Chr1:156138537	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Cardiomyopathy 11 conditions Familial partial lipodystrophy, Dunnigan type Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA020320	rs_59601651	10 SubmittersRCV000057354 RCV000618100 RCV000653858 RCV001182287 RCV002504960 RCV003333022 RCV003996507
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)	SNV Germline	Chr1:156115102	Pathogenic	Condition: not provided Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017741	rs_56793579	5 SubmittersRCV000057365 RCV000503031 RCV001051802
NM_170707.4(LMNA):c.1968+1G>A	SNV Germline	Chr1:156138758	Pathogenic	Hutchinson-Gilford syndrome Condition: not provided Restrictive dermopathy 2	No Assertion Criteria Provided	CA015209	rs_113436208	3 SubmittersRCV000015607 RCV000057377 RCV001847645
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)	SNV Germline	Chr1:156115162	Pathogenic	Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017794	rs_59270054	5 SubmittersRCV000057380 RCV000156060 RCV000457442 RCV005589774
NM_170707.4(LMNA):c.265C>T (p.Arg89Cys)	SNV Germline	Chr1:156115183	Likely pathogenic	Condition: not provided Heart-hand syndrome, Slovenian type	No Assertion Criteria Provided	CA017826	rs_267607559	2 SubmittersRCV000057382 RCV004767053
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu)	SNV Germline	Chr1:156115184	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017839	rs_59040894	3 SubmittersRCV000057383 RCV000462640 RCV005364950
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)	SNV Germline	Chr1:156115192	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017846	rs_267607560	5 SubmittersRCV000057384 RCV002433553 RCV006461342
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)	SNV Germline	Chr1:156114947	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Familial partial lipodystrophy, Dunnigan type Lipodystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA017867	rs_57077886	6 SubmittersRCV000015599 RCV000057387 RCV000502816 RCV000755005 RCV000622546
NM_170707.4(LMNA):c.357-1G>T	SNV Germline	Chr1:156130616	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017975	rs_267607569	2 SubmittersRCV000057393 RCV001387325
NM_170707.4(LMNA):c.412G>A (p.Glu138Lys)	SNV Germline	Chr1:156130672	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA018066	rs_267607649	2 SubmittersRCV000057401
NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)	SNV Germline	Chr1:156130679	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018070	rs_60652225	2 SubmittersRCV000057402 RCV001854176
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)	SNV Germline	Chr1:156130687	Pathogenic/Likely pathogenic	Condition: not provided Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018081	rs_61661343	5 SubmittersRCV000057404 RCV001258042 RCV001387327 RCV003996511
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	SNV Germline	Chr1:156130757	Pathogenic/Likely pathogenic	Condition: not provided Dilated cardiomyopathy 1A Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018166	rs_267607570	6 SubmittersRCV000057411 RCV000503619 RCV000620401 RCV000556738 RCV003993783
NM_170707.4(LMNA):c.513G>A (p.Lys171=)	SNV Germline	Chr1:156130773	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018192	rs_267607542	2 SubmittersRCV000057412 RCV001231297
NM_170707.4(LMNA):c.514-1G>A	SNV Germline	Chr1:156134402	Pathogenic	Condition: not provided Dilated cardiomyopathy 1A	Criteria Provided Single Submitter	CA018199	rs_267607589	2 SubmittersRCV000057413 RCV004786334
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)	SNV Germline	Chr1:156134457	Pathogenic	Condition: not provided Dilated cardiomyopathy 1S Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Primary dilated cardiomyopathy LMNA-related disorder Dilated cardiomyopathy 1A 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA018245	rs_59026483	17 SubmittersRCV000057419 RCV000491585 RCV000535082 RCV000619878 RCV003996512 RCV004528262 RCV005862962 RCV005862963
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	SNV Germline	Chr1:156134458	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA018251	rs_267607571	16 SubmittersRCV000057421 RCV000619042 RCV000653887 RCV000768712 RCV001449792 RCV003447483
NM_170707.4(LMNA):c.575A>T (p.Asp192Val)	SNV Unknown	Chr1:156134464	Likely pathogenic	Condition: not provided Dilated cardiomyopathy 1A	Criteria Provided Single Submitter	CA018263	rs_57045855	2 SubmittersRCV000057423 RCV003152678
NM_170707.4(LMNA):c.608A>T (p.Glu203Val)	SNV Germline	Chr1:156134497	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Primary familial dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018303	rs_28933092	3 SubmittersRCV000057429 RCV002513739 RCV004799772
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)	SNV Germline	Chr1:156134507	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018318	rs_267607629	6 SubmittersRCV000057431 RCV000694277 RCV002354249
NM_170707.4(LMNA):c.640-10A>G	SNV Germline	Chr1:156134795	Pathogenic/Likely pathogenic	Condition: not provided Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018347	rs_80356807	7 SubmittersRCV000057437 RCV001029824 RCV001221904 RCV002362690
NM_170707.4(LMNA):c.656A>C (p.Lys219Thr)	SNV Germline	Chr1:156134821	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018400	rs_267607584	3 SubmittersRCV000057439 RCV005089470
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	SNV Germline	Chr1:156134859	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 7 conditions	Criteria Provided Single Submitter	CA018465	rs_267607609	3 SubmittersRCV000057444 RCV001038356 RCV001535783
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)	SNV Germline	Chr1:156134860	Pathogenic/Likely pathogenic	Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018472	rs_57207746	3 SubmittersRCV000057445 RCV000201054 RCV001052813
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)	SNV Germline	Chr1:156134901	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018512	rs_267607587	4 SubmittersRCV000057448 RCV001854177
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)	SNV Germline	Chr1:156114991	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA018531	rs_58327533	6 SubmittersRCV000057449 RCV001048135 RCV002381367 RCV005409613
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)	SNV Germline	Chr1:156114991	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA018538	rs_58327533	4 SubmittersRCV000057450 RCV001049614 RCV002381368 RCV005001985
NM_170707.4(LMNA):c.743T>C (p.Leu248Pro)	SNV Germline	Chr1:156134908	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018545	rs_58850446	3 SubmittersRCV000057451 RCV002381369
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	SNV Germline	Chr1:156134911	Pathogenic/Likely pathogenic	Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Muscular dystrophy Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2B1 Abnormality of the musculature Cardiomyopathy Congenital muscular dystrophy 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA018567	rs_59332535	19 SubmittersRCV000057453 RCV000201012 RCV000501991 RCV000496185 RCV000548477 RCV000662104 RCV001814042 RCV003230389 RCV004018991 RCV004795993
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)	SNV Germline	Chr1:156114992	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018579	rs_61578124	2 SubmittersRCV000057454 RCV002513740
NM_170707.4(LMNA):c.775T>C (p.Tyr259His)	SNV Germline	Chr1:156134940	Likely pathogenic	Condition: not provided Dilated cardiomyopathy 1A	Criteria Provided Single Submitter	CA018600	rs_60578328	2 SubmittersRCV000057455 RCV005621866
NM_170707.4(LMNA):c.810+1G>A	SNV Germline	Chr1:156134976	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018696	rs_267607632	2 SubmittersRCV000057465 RCV000477527
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)	SNV Germline	Chr1:156115000	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018743	rs_59914820	3 SubmittersRCV000057473 RCV000653924 RCV006342098
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)	SNV Germline	Chr1:156135274	Pathogenic/Likely pathogenic	Condition: not provided Lipodystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Cardiomyopathy Hutchinson-Gilford syndrome	Criteria Provided Multiple Submitters No Conflicts	CA018826	rs_267607591	6 SubmittersRCV000057481 RCV000146262 RCV001234965 RCV003227631 RCV006547576 RCV005411317
NM_170707.4(LMNA):c.937-11C>G	SNV Germline	Chr1:156135890	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018858	rs_267607645	2 SubmittersRCV000057486 RCV001854178
NM_170707.4(LMNA):c.937-7C>G	SNV Germline	Chr1:156135894	Conflicting classifications of pathogenicity	Condition: not provided not specified Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Primary dilated cardiomyopathy 11 conditions Dilated cardiomyopathy 1A	Criteria Provided Conflicting Classifications	CA018867	rs_267607681	14 SubmittersRCV000057488 RCV000440584 RCV000530832 RCV000772012 RCV001172638 RCV003996513 RCV005042176 RCV004786335
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)	SNV Germline	Chr1:156135916	Conflicting classifications of pathogenicity	Condition: not provided Primary dilated cardiomyopathy Cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018883	rs_267607574	9 SubmittersRCV000057491 RCV000852590 RCV001182567 RCV001303998 RCV002371900
NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)	SNV Germline	Chr1:156115016	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018931	rs_267607614	2 SubmittersRCV000057495 RCV002513742
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro)	SNV Germline	Chr1:156135956	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018942	rs_59301204	3 SubmittersRCV000057496 RCV003581578
NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)	SNV Germline	Chr1:156115017	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA018946	rs_57966821	3 SubmittersRCV000057497
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)	SNV Germline	Chr1:156115017	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA018951	rs_57966821	4 SubmittersRCV000057498 RCV000790002 RCV001854179
NM_170707.4(LMNA):c.148C>T (p.Arg50Cys)	SNV Germline	Chr1:156115066	Conflicting classifications of pathogenicity	Condition: not provided Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Conflicting Classifications	CA017346	rs_59931416	2 SubmittersRCV000081302 RCV003987355
NM_170707.4(LMNA):c.1620G>A (p.Met540Ile)	SNV Germline	Chr1:156137665	Pathogenic	Mandibuloacral dysplasia with type A lipodystrophy	Criteria Provided Single Submitter	CA017595	rs_483352811	1 SubmittersRCV000087081
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)	SNV Germline	Chr1:156138720	Conflicting classifications of pathogenicity	Congenital muscular dystrophy not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Lethal tight skin contracture syndrome 11 conditions	Criteria Provided Conflicting Classifications	CA014889	rs_368386019	12 SubmittersRCV000148599 RCV000182377 RCV000245708 RCV000725647 RCV000769735 RCV001079490 RCV001330501 RCV005042289
NM_170707.4(LMNA):c.1968G>A (p.Gln656=)	SNV Germline	Chr1:156138757	Pathogenic	Hutchinson-Gilford progeria syndrome, atypical Hutchinson-Gilford syndrome	No Assertion Criteria Provided	CA347058	rs_797044487	2 SubmittersRCV000190822 RCV000192015
NM_170707.4(LMNA):c.1968+5G>A	SNV Germline	Chr1:156138762	Conflicting classifications of pathogenicity	Hutchinson-Gilford syndrome Hutchinson-Gilford progeria syndrome, atypical Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA347068	rs_797044488	5 SubmittersRCV000192020 RCV000190823 RCV006461630
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys)	SNV Germline	Chr1:156115096	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017729	rs_28928900	5 SubmittersRCV000156772 RCV000768709 RCV001206073 RCV004786415 RCV005659859
NM_170707.4(LMNA):c.640-11A>C	SNV Germline	Chr1:156134794	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018353	rs_727504932	4 SubmittersRCV000156325 RCV001186918 RCV002056124 RCV003998309
NM_170707.4(LMNA):c.1122C>T (p.His374=)	SNV Germline	Chr1:156136086	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA016632	rs_143715750	5 SubmittersRCV000150949 RCV000242405 RCV000725445 RCV001046037 RCV001182014
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)	SNV Germline	Chr1:156136432	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA017121	rs_372011095	10 SubmittersRCV000154750 RCV000726125 RCV000824275 RCV001179779 RCV002381491 RCV003998270 RCV005042303
NM_170707.4(LMNA):c.1609-1G>A	SNV Germline	Chr1:156137653	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017570	rs_111569862	4 SubmittersRCV000156608 RCV000182373 RCV001850165
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu)	SNV Germline	Chr1:156115133	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017782	rs_727504340	3 SubmittersRCV000154457 RCV001059604 RCV002426738
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)	SNV Germline	Chr1:156130757	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Condition: not provided Cardiomyopathy Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018161	rs_267607570	9 SubmittersRCV000150939 RCV000653861 RCV000732765 RCV000771896 RCV002336298 RCV002505147 RCV003998206
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)	SNV Germline	Chr1:156134851	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Primary dilated cardiomyopathy Dilated cardiomyopathy 1A Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA018453	rs_727505357	9 SubmittersRCV000156919 RCV000538272 RCV001525549 RCV003152686 RCV003998328 RCV006257278 RCV006342131 RCV005429225
NM_170707.4(LMNA):c.1158-3C>T	SNV Germline	Chr1:156136211	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA016764	rs_727503136	3 SubmittersRCV000150951 RCV003998207 RCV005055621
NM_170707.4(LMNA):c.1488+14C>T	SNV Germline	Chr1:156137042	Conflicting classifications of pathogenicity	not specified Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type A lipodystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype LMNA-related disorder	Criteria Provided Conflicting Classifications	CA017307	rs_377700689	11 SubmittersRCV000154749 RCV001097151 RCV001098889 RCV001098891 RCV001097148 RCV001097149 RCV001097150 RCV001097152 RCV001098890 RCV001098892 RCV001098893 RCV001173408 RCV001795278 RCV001850119 RCV003162630 RCV004734724
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	SNV Germline	Chr1:156137679	Conflicting classifications of pathogenicity	not specified Peripheral neuropathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1S Condition: not provided Cardiovascular phenotype Cardiomyopathy Hutchinson-Gilford syndrome Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation Lethal tight skin contracture syndrome Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2B1 Lipodystrophy 7 conditions Autosomal semi-dominant severe lipodystrophic laminopathy Primary dilated cardiomyopathy LMNA-related disorder 6 conditions 11 conditions	Criteria Provided Conflicting Classifications	CA017649	rs_142191737	29 SubmittersRCV000150955 RCV000449630 RCV000468904 RCV000491650 RCV000505801 RCV000621850 RCV000771819 RCV001101061 RCV001100810 RCV001101055 RCV001101062 RCV001101057 RCV001101058 RCV001101059 RCV001101060 RCV001248958 RCV001781492 RCV003993830 RCV003998208 RCV004532675 RCV005359320 RCV005042294
NM_170707.4(LMNA):c.1699-8C>G	SNV Germline	Chr1:156138480	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA020283	rs_727503137	8 SubmittersRCV000150956 RCV000769731 RCV000876929 RCV001173401 RCV001775636 RCV004639144
NM_170707.4(LMNA):c.917T>G (p.Leu306Arg)	SNV Germline	Chr1:156135293	Pathogenic	Right ventricular cardiomyopathy Hutchinson-Gilford progeria syndrome, childhood-onset	No Assertion Criteria Provided	CA018851	rs_730882262	1 SubmittersRCV000162192
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)	SNV Germline	Chr1:156135981	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype not specified Cardiomyopathy Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease LMNA-related disorder	Criteria Provided Conflicting Classifications	CA016439	rs_17847242	18 SubmittersRCV000172001 RCV000244350 RCV000276961 RCV000771177 RCV001086138 RCV001172634 RCV004535167
NM_170707.4(LMNA):c.643C>T (p.Leu215=)	SNV Germline	Chr1:156134808	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018363	rs_397517905	6 SubmittersRCV000585450 RCV001804907 RCV001429120 RCV002362912 RCV003996573
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)	SNV Germline	Chr1:156137175	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Lethal tight skin contracture syndrome Dilated cardiomyopathy 1A Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy due to LMNA mutation Condition: not provided Cardiovascular phenotype Cardiomyopathy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA017421	rs_41314035	21 SubmittersRCV000223139 RCV000231059 RCV000259331 RCV000331994 RCV000309672 RCV000363237 RCV000373945 RCV000392082 RCV000392077 RCV000589163 RCV000620476 RCV000771258 RCV001100975 RCV001093871 RCV001172636 RCV003996588
NM_170707.4(LMNA):c.3G>T (p.Met1Ile)	SNV Germline	Chr1:156114921	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018051	rs_794728598	3 SubmittersRCV000182378 RCV002515313
NM_170707.4(LMNA):c.179G>C (p.Arg60Pro)	SNV Germline	Chr1:156115097	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA017735	rs_794728601	2 SubmittersRCV000182381 RCV004526630
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)	SNV Germline	Chr1:156115168	Conflicting classifications of pathogenicity	Cardiovascular phenotype Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 11 conditions	Criteria Provided Conflicting Classifications	CA017800	rs_794728602	4 SubmittersRCV000621704 RCV000758164 RCV003581582 RCV005042397
NM_170707.4(LMNA):c.252G>C (p.Glu84Asp)	SNV Germline	Chr1:156115170	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017807	rs_794728586	2 SubmittersRCV000182351 RCV001852311
NM_170707.4(LMNA):c.344A>T (p.Glu115Val)	SNV Germline	Chr1:156115262	Conflicting classifications of pathogenicity	Condition: not provided not specified Charcot-Marie-Tooth disease type 2 Peripheral neuropathy Primary familial dilated cardiomyopathy Dilated cardiomyopathy 1A Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017931	rs_794728588	6 SubmittersRCV000182354 RCV000223737 RCV000707542 RCV000852405 RCV004786499 RCV004992062
NM_170707.4(LMNA):c.356+1G>A	SNV Germline	Chr1:156115275	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017954	rs_794728589	3 SubmittersRCV000182355 RCV000689313 RCV005404350
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	SNV Germline	Chr1:156130658	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2B1 Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy 2, autosomal dominant Mandibuloacral dysplasia with type A lipodystrophy Lethal tight skin contracture syndrome Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Cardiomyopathy Hutchinson-Gilford syndrome Dilated cardiomyopathy 1A Cardiovascular phenotype Primary dilated cardiomyopathy LMNA-related disorder 11 conditions	Criteria Provided Conflicting Classifications	CA018032	rs_60864230	13 SubmittersRCV000182356 RCV000204542 RCV001096449 RCV001098187 RCV001098189 RCV001098184 RCV001098185 RCV001096448 RCV001098186 RCV001098188 RCV001191911 RCV001098190 RCV001098191 RCV002372114 RCV003996714 RCV004734805 RCV005042395
NM_170707.4(LMNA):c.471G>A (p.Thr157=)	SNV Germline	Chr1:156130731	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Familial partial lipodystrophy, Dunnigan type Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Dilated cardiomyopathy 1A Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2B1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018129	rs_150645079	15 SubmittersRCV000182358 RCV000727266 RCV000778038 RCV001081191 RCV001099967 RCV001099969 RCV001101973 RCV001099963 RCV001099964 RCV001099965 RCV001101971 RCV001099966 RCV001099968 RCV001101972 RCV002336452
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)	SNV Germline	Chr1:156134811	Conflicting classifications of pathogenicity	Laminopathy Primary dilated cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Condition: not provided Primary familial dilated cardiomyopathy Atrioventricular block	Criteria Provided Conflicting Classifications	CA018379	rs_794728591	14 SubmittersRCV000182360 RCV000208531 RCV000241819 RCV000528116 RCV000725540 RCV001778774 RCV004786500
NM_170707.4(LMNA):c.647G>A (p.Arg216His)	SNV Germline	Chr1:156134812	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease Dilated cardiomyopathy 1A Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy Ventricular tachycardia 12 conditions	Criteria Provided Conflicting Classifications	CA018387	rs_757041809	16 SubmittersRCV000474813 RCV000732408 RCV000778039 RCV001172621 RCV001775091 RCV002354479 RCV002478615 RCV003996718 RCV005245490 RCV005208128
NM_170707.4(LMNA):c.768G>A (p.Val256=)	SNV Germline	Chr1:156134933	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Cardiovascular phenotype 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA018593	rs_794728593	6 SubmittersRCV000182364 RCV000219229 RCV000806148 RCV001199263 RCV002399655 RCV005042396
NM_170707.4(LMNA):c.871G>A (p.Glu291Lys)	SNV Germline	Chr1:156135247	Pathogenic	Condition: not provided Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA018791	rs_794728594	2 SubmittersRCV000182365 RCV004786501
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)	SNV Germline	Chr1:156136021	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Neuronopathy, distal hereditary motor, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA016519	rs_267607623	5 SubmittersRCV000182362 RCV000229718 RCV000247014 RCV000790003
NM_170707.4(LMNA):c.1157+6C>G	SNV Germline	Chr1:156136127	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016725	rs_374768416	5 SubmittersRCV000182348 RCV000821919 RCV001182769 RCV003996713 RCV005404349
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)	SNV Germline	Chr1:156136941	Pathogenic	Condition: not provided Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017193	rs_794728613	4 SubmittersRCV000182396 RCV001775092 RCV001852314
NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter)	SNV Germline	Chr1:156137184	Pathogenic	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017446	rs_794728595	3 SubmittersRCV000182370 RCV002399656 RCV006461814
NM_170707.4(LMNA):c.1562G>T (p.Gly521Val)	SNV Germline	Chr1:156137186	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA017452	rs_794728596	1 SubmittersRCV000182371
NM_005572.4(LMNA):c.1712G>A (p.Arg571His)	SNV Germline	Chr1:156137757	Conflicting classifications of pathogenicity	Monogenic diabetes Cardiomyopathy Long QT syndrome Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA017707	rs_200917748	12 SubmittersRCV000664076 RCV000778037 RCV000852591 RCV001701632 RCV001852310 RCV002464010 RCV004020193 RCV000182349
NM_005572.4(LMNA):c.1714C>T (p.Arg572Cys)	SNV Germline	Chr1:156137759	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017711	rs_773169005	4 SubmittersRCV000726056 RCV001182259 RCV001394831
NM_170707.4(LMNA):c.936+2T>C	SNV Germline	Chr1:156135314	Conflicting classifications of pathogenicity	Hutchinson-Gilford syndrome Cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA275974	rs_797045011	4 SubmittersRCV000986430 RCV001798660 RCV003165426 RCV003743622
NM_170707.4(LMNA):c.810+1G>C	SNV Germline	Chr1:156134976	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Single Submitter	CA277528	rs_267607632	1 SubmittersRCV000199480
NM_170707.4(LMNA):c.899A>G (p.Asp300Gly)	SNV Germline	Chr1:156135275	Pathogenic	Hutchinson-Gilford progeria syndrome, atypical	No Assertion Criteria Provided	CA10575804	rs_79907212	1 SubmittersRCV000201431
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)	SNV Germline	Chr1:156136284	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Hypertrophic cardiomyopathy 1 Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA10602394	rs_1057515421	3 SubmittersRCV000408652 RCV001256761 RCV001798692
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)	SNV Germline	Chr1:156130708	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 not specified Cardiovascular phenotype Dilated cardiomyopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA088193	rs_58917027	7 SubmittersRCV000208276 RCV000536399 RCV000611547 RCV002327072 RCV006259209 RCV006277749
NM_170707.4(LMNA):c.937-8C>A	SNV Germline	Chr1:156135893	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Lethal tight skin contracture syndrome Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy due to LMNA mutation Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Mandibuloacral dysplasia with type A lipodystrophy Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA054885	rs_751707982	7 SubmittersRCV000207998 RCV000545586 RCV000777940 RCV001096749 RCV001096751 RCV001098487 RCV001096746 RCV001096747 RCV001096748 RCV001098486 RCV001096750 RCV001096752 RCV001098488 RCV001697242 RCV005893800
NM_170707.4(LMNA):c.82C>G (p.Arg28Gly)	SNV Germline	Chr1:156115000	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA358140	rs_59914820	1 SubmittersRCV000210645
NM_170707.4(LMNA):c.346C>T (p.Leu116=)	SNV Germline	Chr1:156115264	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10576363	rs_876657491	6 SubmittersRCV000213438 RCV000771953 RCV000904865 RCV002336594 RCV003997707
NM_170707.4(LMNA):c.356+1G>C	SNV Germline	Chr1:156115275	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10576364	rs_794728589	2 SubmittersRCV000218409 RCV000592631
NM_170707.4(LMNA):c.449C>T (p.Thr150Ile)	SNV Germline	Chr1:156130709	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10576365	rs_869069617	6 SubmittersRCV000220590 RCV003319335 RCV003486773 RCV004020622 RCV006462114
NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu)	SNV Germline	Chr1:156136074	Likely pathogenic	Laminopathy	Criteria Provided Single Submitter	CA10576367	rs_876657649	1 SubmittersRCV000223064
NM_170707.4(LMNA):c.1488+8G>A	SNV Germline	Chr1:156137036	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA050369	rs_762836610	6 SubmittersRCV000220172 RCV000725758 RCV001088656 RCV001173413 RCV002390573
NM_170707.4(LMNA):c.1381-6C>T	SNV Germline	Chr1:156136915	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA050164	rs_371635492	7 SubmittersRCV000215844 RCV000416195 RCV001180052 RCV001087904 RCV003997704
NM_170707.4(LMNA):c.949G>T (p.Glu317Ter)	SNV Germline	Chr1:156135913	Pathogenic	Condition: not provided	No Assertion Criteria Provided	CA10581125	rs_56816490	1 SubmittersRCV000223858
NM_170707.4(LMNA):c.254T>A (p.Leu85His)	SNV Germline	Chr1:156115172	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA10581727	rs_28933090	1 SubmittersRCV000225805
NM_170707.4(LMNA):c.928C>T (p.Gln310Ter)	SNV Germline	Chr1:156135304	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA10581728	rs_878855234	2 SubmittersRCV000230197 RCV004806266
NM_170707.4(LMNA):c.1090G>A (p.Asp364Asn)	SNV Germline	Chr1:156136054	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10581729	rs_878855231	3 SubmittersRCV000227450 RCV000313924 RCV003165656
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)	SNV Germline	Chr1:156136311	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Cardiomyopathy 11 conditions Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA049655	rs_755686359	6 SubmittersRCV000227837 RCV000597022 RCV001184022 RCV002479935 RCV004020899 RCV003998891
NM_170707.4(LMNA):c.3G>C (p.Met1Ile)	SNV Germline	Chr1:156114921	Pathogenic	Condition: not provided not specified	Criteria Provided Single Submitter	CA10584109	rs_794728598	2 SubmittersRCV000236357 RCV000678713
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)	SNV Germline	Chr1:156114992	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA054268	rs_61578124	7 SubmittersRCV000236179 RCV001079756 RCV001182288 RCV002392726 RCV003998902 RCV005044491
NM_170707.4(LMNA):c.224C>T (p.Ser75Phe)	SNV Germline	Chr1:156115142	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10584113	rs_879253975	2 SubmittersRCV000236603 RCV002518434
NM_170707.4(LMNA):c.242A>G (p.Tyr81Cys)	SNV Germline	Chr1:156115160	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10584114	rs_879254319	2 SubmittersRCV000237077 RCV001351546
NM_170707.4(LMNA):c.443T>C (p.Leu148Pro)	SNV Germline	Chr1:156130703	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10584118	rs_879253929	1 SubmittersRCV000236939
NM_170707.4(LMNA):c.513+1G>A	SNV Germline	Chr1:156130774	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10584120	rs_397517904	3 SubmittersRCV000235237 RCV001379216 RCV004020919
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro)	SNV Germline	Chr1:156135293	Likely pathogenic	Condition: not provided Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10584123	rs_730882262	2 SubmittersRCV000235583 RCV000500335
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp)	SNV Germline	Chr1:156135955	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A Restrictive dermopathy 2 Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10584124	rs_879253898	7 SubmittersRCV000236116 RCV001176603 RCV001857795 RCV002379039 RCV003227732 RCV003998898
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)	SNV Germline	Chr1:156135968	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dehydrated hereditary stomatocytosis 2 Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA048759	rs_138592977	12 SubmittersRCV000727308 RCV000771975 RCV001174248 RCV000653901 RCV002401922 RCV005863071 RCV003998912
NM_170707.4(LMNA):c.1081G>C (p.Glu361Gln)	SNV Germline	Chr1:156136045	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10584125	rs_267607634	2 SubmittersRCV000236290 RCV001208634
NM_170707.4(LMNA):c.1157+1G>T	SNV Germline	Chr1:156136122	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA10584128	rs_267607590	2 SubmittersRCV000236305 RCV001857811
NM_170707.4(LMNA):c.1160T>C (p.Leu387Pro)	SNV Germline	Chr1:156136216	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10584130	rs_879253934	2 SubmittersRCV000235338 RCV000653922
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	SNV Germline	Chr1:156137027	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 11 conditions Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Mandibuloacral dysplasia with type A lipodystrophy Lethal tight skin contracture syndrome Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy 2, autosomal dominant Dilated cardiomyopathy 1A Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Hutchinson-Gilford syndrome Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy not specified	Criteria Provided Conflicting Classifications	CA050321	rs_200466188	16 SubmittersRCV000235878 RCV000653862 RCV000681642 RCV001098789 RCV001100613 RCV001100618 RCV001100620 RCV001100614 RCV001100615 RCV001100616 RCV001100617 RCV001100889 RCV001180056 RCV001100619 RCV002392729 RCV002494678 RCV003998908 RCV005890962
NM_170707.4(LMNA):c.1489-2A>G	SNV Germline	Chr1:156137111	Likely pathogenic	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA10584131	rs_879254081	3 SubmittersRCV000236890 RCV002392730 RCV002518441
NM_170707.4(LMNA):c.1540T>C (p.Trp514Arg)	SNV Germline	Chr1:156137164	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10584133	rs_879254082	1 SubmittersRCV000235628
NM_170707.4(LMNA):c.1609-8C>G	SNV Germline	Chr1:156137646	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA10584134	rs_879253917	3 SubmittersRCV000235897 RCV002518429 RCV005890957
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)	SNV Germline	Chr1:156139089	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy not specified	Criteria Provided Conflicting Classifications	CA051914	rs_374926367	11 SubmittersRCV000727363 RCV001079513 RCV001184766 RCV002418036 RCV005044490 RCV003998896 RCV006263794
NM_170707.4(LMNA):c.111G>A (p.Glu37=)	SNV Germline	Chr1:156115029	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Cardiomyopathy Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10587413	rs_886038906	6 SubmittersRCV000247889 RCV000726524 RCV003532072 RCV003999033 RCV006462262
NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter)	SNV Germline	Chr1:156137190	Pathogenic	Cardiovascular phenotype	Criteria Provided Single Submitter	CA10587415	rs_149339264	1 SubmittersRCV000250959
NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr)	SNV Germline	Chr1:156136121	Pathogenic	Cardiovascular phenotype	Criteria Provided Single Submitter	CA10587419	rs_267607545	1 SubmittersRCV000248263
NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly)	SNV Germline	Chr1:156136037	Likely pathogenic	Arrhythmogenic right ventricular dysplasia 9	No Assertion Criteria Provided	CA342820319	rs_1114167345	1 SubmittersRCV000491922
NM_170707.4(LMNA):c.149G>T (p.Arg50Leu)	SNV Germline	Chr1:156115067	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10603912	rs_60695352	3 SubmittersRCV000364250 RCV001044757
NM_170707.4(LMNA):c.726G>A (p.Ala242=)	SNV Germline	Chr1:156134891	Conflicting classifications of pathogenicity	Condition: not provided not specified Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA054216	rs_763625309	8 SubmittersRCV000345591 RCV000780388 RCV001088674 RCV001525715 RCV002379110 RCV003995754
NM_170707.4(LMNA):c.192C>T (p.Thr64=)	SNV Germline	Chr1:156115110	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA051973	rs_137969290	8 SubmittersRCV000348112 RCV000725140 RCV001087778 RCV001183039 RCV002411149 RCV003995762
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)	SNV Germline	Chr1:156136015	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA048878	rs_771623461	7 SubmittersRCV000587553 RCV001088944 RCV001183035 RCV002392800 RCV003995764
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg)	SNV Germline	Chr1:156134859	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10605004	rs_267607609	3 SubmittersRCV000519005 RCV002521931
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)	SNV Germline	Chr1:156115001	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA10605120	rs_886043109	4 SubmittersRCV000380269 RCV000809047 RCV004577329
NM_170707.4(LMNA):c.139G>A (p.Asp47Asn)	SNV Germline	Chr1:156115057	Conflicting classifications of pathogenicity	Condition: not provided Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Conflicting Classifications	CA10605149	rs_267607608	2 SubmittersRCV000320512 RCV003987491
NM_170707.4(LMNA):c.498G>A (p.Arg166=)	SNV Germline	Chr1:156130758	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10605219	rs_886043189	4 SubmittersRCV000395106 RCV002059182 RCV002338846
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro)	SNV Germline	Chr1:156135227	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Conflicting Classifications	CA10605303	rs_886043260	3 SubmittersRCV000390988 RCV000693559 RCV002250618
NM_170707.4(LMNA):c.1599C>T (p.Ser533=)	SNV Germline	Chr1:156137223	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10605409	rs_886043346	5 SubmittersRCV000362667 RCV001525716 RCV002401994 RCV002519217 RCV003995777
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)	SNV Germline	Chr1:156137702	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Charcot-Marie-Tooth disease type 2 not specified Cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype 11 conditions	Criteria Provided Conflicting Classifications	CA050891	rs_373671419	11 SubmittersRCV000334194 RCV000622473 RCV000541582 RCV000825772 RCV001183038 RCV001172624 RCV004992158 RCV005044537
NM_170707.4(LMNA):c.75C>T (p.Arg25=)	SNV Germline	Chr1:156114993	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10605468	rs_80356804	2 SubmittersRCV000316060 RCV001452238
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser)	SNV Germline	Chr1:156138708	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Familial partial lipodystrophy, Dunnigan type Primary dilated cardiomyopathy LMNA-related disorder	Criteria Provided Conflicting Classifications	CA051671	rs_752598065	7 SubmittersRCV000533234 RCV000658526 RCV003335301 RCV003995784 RCV004734939
NM_170707.4(LMNA):c.1311C>T (p.Ser437=)	SNV Germline	Chr1:156136367	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA049800	rs_763224059	7 SubmittersRCV000377625 RCV000726198 RCV001087891 RCV001183042 RCV002379144 RCV003995786
NM_170707.4(LMNA):c.591G>A (p.Leu197=)	SNV Germline	Chr1:156134480	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10606277	rs_886044049	4 SubmittersRCV000323285 RCV002059252 RCV003532078 RCV003995787
NM_170707.4(LMNA):c.1314G>A (p.Gly438=)	SNV Germline	Chr1:156136370	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype not specified Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA049826	rs_774817302	8 SubmittersRCV000726528 RCV001177599 RCV002379154 RCV005238859 RCV001083806 RCV001172637
NM_170707.4(LMNA):c.732G>A (p.Ala244=)	SNV Germline	Chr1:156134897	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA054233	rs_756952925	6 SubmittersRCV000278718 RCV000769725 RCV001416242 RCV003995794 RCV004992167
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)	SNV Germline	Chr1:156137028	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy, Dunnigan type Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Dilated cardiomyopathy 1A Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2 not specified Congenital muscular dystrophy due to LMNA mutation Cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA050383	rs_375516745	8 SubmittersRCV000272434 RCV000283389 RCV000295329 RCV000337310 RCV000329882 RCV000341138 RCV000364565 RCV000424743 RCV000399235 RCV000769730 RCV000733840 RCV001093869 RCV001097147 RCV002392823 RCV003995796
NM_170707.4(LMNA):c.514-11C>T	SNV Germline	Chr1:156134392	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy Dilated cardiomyopathy 1A Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Mandibuloacral dysplasia with type A lipodystrophy Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10608308	rs_886045365	5 SubmittersRCV000259634 RCV000277232 RCV000312526 RCV000319234 RCV000338954 RCV000372986 RCV000367228 RCV000373949 RCV000828218 RCV001096563 RCV002061154 RCV004639205 RCV005402898
NM_170707.4(LMNA):c.294G>A (p.Glu98=)	SNV Germline	Chr1:156115212	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Lethal tight skin contracture syndrome Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10608333	rs_886045363	5 SubmittersRCV000268830 RCV000268358 RCV000303772 RCV000304893 RCV000338865 RCV000364211 RCV000358456 RCV000404276 RCV001101770 RCV001718593 RCV003231435 RCV005589808
NM_170707.4(LMNA):c.130G>T (p.Val44Phe)	SNV Germline	Chr1:156115048	Conflicting classifications of pathogenicity	Congenital muscular dystrophy Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA16043361	rs_1057518971	2 SubmittersRCV000415420 RCV001861451
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)	SNV Germline	Chr1:156115208	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Cardiomyopathy 11 conditions Cardiovascular phenotype not specified Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA16609882	rs_1060502216	8 SubmittersRCV000472865 RCV000598315 RCV001524820 RCV002489054 RCV002436430 RCV003387849 RCV004000799
NM_170707.4(LMNA):c.122G>A (p.Arg41His)	SNV Germline	Chr1:156115040	Pathogenic	Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16609885	rs_1060502215	2 SubmittersRCV000457713 RCV000994129
NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)	SNV Germline	Chr1:156136082	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA16609888	rs_1060502214	1 SubmittersRCV000458536
NM_170707.4(LMNA):c.988G>T (p.Glu330Ter)	SNV Germline	Chr1:156135952	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA16609891	rs_1060502211	1 SubmittersRCV000467141
NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter)	SNV Germline	Chr1:156136042	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16617001	rs_1064796677	1 SubmittersRCV000481311
NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)	SNV Germline	Chr1:156115076	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16621576	rs_60290646	2 SubmittersRCV000816556 RCV000488077
NM_170707.4(LMNA):c.1764C>T (p.Cys588=)	SNV Germline	Chr1:156138553	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA051286	rs_759016336	5 SubmittersRCV000488247 RCV002404275 RCV002525985 RCV004806369
NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)	SNV Germline	Chr1:156134508	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342817053	rs_1085307888	2 SubmittersRCV000490224 RCV003743751
NM_170707.4(LMNA):c.307C>T (p.Gln103Ter)	SNV Germline	Chr1:156115225	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342808718	rs_1131691980	2 SubmittersRCV000492819 RCV005091051
NM_170707.4(LMNA):c.439G>C (p.Ala147Pro)	SNV Germline	Chr1:156130699	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342815415	rs_139875047	2 SubmittersRCV000493099 RCV001060974
NM_170707.4(LMNA):c.1126T>C (p.Tyr376His)	SNV Germline	Chr1:156136090	Likely pathogenic	Condition: not provided Limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA342820546	rs_1131691263	2 SubmittersRCV000493512 RCV005625638
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)	SNV Germline	Chr1:156136930	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiomyopathy Condition: not provided Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA050209	rs_200262654	8 SubmittersRCV000800973 RCV000772026 RCV000725643 RCV002395208 RCV002506209 RCV004003508
NM_170707.4(LMNA):c.513+12C>A	SNV Germline	Chr1:156130785	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA31008193	rs_756758566	3 SubmittersRCV000500206 RCV002060129 RCV005589847
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)	SNV Germline	Chr1:156135208	Pathogenic	Muscular dystrophy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342817513	rs_1553265433	2 SubmittersRCV000503745 RCV001382395
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)	SNV Germline	Chr1:156136081	Likely pathogenic	Dilated cardiomyopathy 1A	Criteria Provided Single Submitter	CA342820510	rs_1553265739	1 SubmittersRCV000502219
NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)	SNV Germline	Chr1:156136219	Likely pathogenic	Muscular dystrophy	Criteria Provided Single Submitter	CA342820778	rs_267607576	1 SubmittersRCV000501231
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	SNV Germline	Chr1:156137212	Pathogenic/Likely pathogenic	Muscular dystrophy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342823527	rs_780302064	2 SubmittersRCV000500844 RCV000697810
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)	SNV Germline	Chr1:156138575	Conflicting classifications of pathogenicity	Muscular dystrophy Charcot-Marie-Tooth disease type 2 Condition: not provided Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA051326	rs_769561386	6 SubmittersRCV000503392 RCV000653834 RCV000992277 RCV001526033 RCV004003526
NM_170707.4(LMNA):c.234G>T (p.Lys78Asn)	SNV Germline	Chr1:156115152	Likely pathogenic	Arrhythmogenic right ventricular dysplasia 9	Criteria Provided Single Submitter	CA342808375	rs_727505038	1 SubmittersRCV000511737
NM_170707.4(LMNA):c.122G>T (p.Arg41Leu)	SNV Germline	Chr1:156115040	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342807753	rs_1060502215	2 SubmittersRCV000518408 RCV000653844
NM_170707.4(LMNA):c.1190G>A (p.Arg397His)	SNV Germline	Chr1:156136246	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA049391	rs_747952058	7 SubmittersRCV000523012 RCV000695647 RCV002341216 RCV003532151 RCV004003591 RCV005044772
NM_170707.4(LMNA):c.1698+1G>C	SNV Germline	Chr1:156137744	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 LMNA-related disorder Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA342825921	rs_1553266337	7 SubmittersRCV000519351 RCV001524187 RCV003581682 RCV004527626 RCV004992297 RCV004806384
NM_170707.4(LMNA):c.1608+10C>T	SNV Germline	Chr1:156137242	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 11 conditions	Criteria Provided Conflicting Classifications	CA050747	rs_748917147	2 SubmittersRCV000529134 RCV002483494
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)	SNV Germline	Chr1:156115012	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Multiple Submitters No Conflicts	CA342807424	rs_1553261891	2 SubmittersRCV000529491 RCV000785916
NM_170707.4(LMNA):c.592C>T (p.Gln198Ter)	SNV Germline	Chr1:156134481	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342816989	rs_1553265165	1 SubmittersRCV000549843
NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)	SNV Germline	Chr1:156137182	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342823343	rs_267607557	1 SubmittersRCV000540642
NM_170707.4(LMNA):c.870G>A (p.Glu290=)	SNV Germline	Chr1:156135246	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA054576	rs_747275587	6 SubmittersRCV000553950 RCV000597468 RCV001191882 RCV002448795 RCV003999471
NM_170707.4(LMNA):c.877C>T (p.Gln293Ter)	SNV Germline	Chr1:156135253	Pathogenic	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA342817717	rs_1553265455	2 SubmittersRCV000532201 RCV005589861
NM_170707.4(LMNA):c.897C>T (p.Ile299=)	SNV Germline	Chr1:156135273	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA054647	rs_762718963	5 SubmittersRCV000542339 RCV000617823 RCV001185071 RCV003999472
NM_170707.4(LMNA):c.936+1G>A	SNV Germline	Chr1:156135313	Pathogenic	Charcot-Marie-Tooth disease type 2 Papillary renal cell carcinoma type 1	Criteria Provided Single Submitter	CA342818117	rs_267607588	2 SubmittersRCV000552554 RCV005898453
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	SNV Germline	Chr1:156136925	Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Single Submitter	CA342822406	rs_1553265999	1 SubmittersRCV000578339
NM_170707.4(LMNA):c.3G>A (p.Met1Ile)	SNV Germline	Chr1:156114921	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 See cases Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA342805841	rs_794728598	4 SubmittersRCV000579197 RCV000653926 RCV001268969 RCV001594399
NM_170707.4(LMNA):c.867C>T (p.His289=)	SNV Germline	Chr1:156135243	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Primary dilated cardiomyopathy LMNA-related disorder	Criteria Provided Conflicting Classifications	CA054567	rs_780415585	6 SubmittersRCV000584877 RCV001178182 RCV001454538 RCV002448816 RCV004002385 RCV004530631
NM_170707.4(LMNA):c.1478A>C (p.Gln493Pro)	SNV Germline	Chr1:156137018	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342822801	rs_1553266048	2 SubmittersRCV000594075 RCV001867919
NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys)	SNV Germline	Chr1:156136078	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342820494	rs_1553265733	3 SubmittersRCV000592581 RCV000696116
NM_170707.4(LMNA):c.483G>A (p.Glu161=)	SNV Germline	Chr1:156130743	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype 11 conditions	Criteria Provided Conflicting Classifications	CA421068349	rs_1553264647	3 SubmittersRCV000598095 RCV002341521 RCV002483600
NM_170707.4(LMNA):c.528A>T (p.Leu176=)	SNV Germline	Chr1:156134417	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA31010889	rs_1026599240	5 SubmittersRCV000598349 RCV001178641 RCV001448884 RCV004002459 RCV005589865
NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)	SNV Germline	Chr1:156137206	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342823494	rs_1187380696	2 SubmittersRCV000593248 RCV006612419
NM_170707.4(LMNA):c.1047G>A (p.Arg349=)	SNV Germline	Chr1:156136011	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA048860	rs_147015659	4 SubmittersRCV000594543 RCV001406347 RCV001524473 RCV002404613
NM_170707.4(LMNA):c.893G>C (p.Arg298Pro)	SNV Germline	Chr1:156135269	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342817795	rs_762653476	2 SubmittersRCV000592791 RCV001205747
NM_170707.4(LMNA):c.1337A>G (p.Asp446Gly)	SNV Germline	Chr1:156136393	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342822060	rs_58541611	3 SubmittersRCV000593108 RCV001387373
NM_170707.4(LMNA):c.480C>T (p.Gly160=)	SNV Germline	Chr1:156130740	Conflicting classifications of pathogenicity	Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA053570	rs_758848135	4 SubmittersRCV000617617 RCV001314765 RCV003532203 RCV004002700
NM_170707.4(LMNA):c.513+2T>G	SNV Germline	Chr1:156130775	Likely pathogenic	Cardiovascular phenotype Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342815749	rs_1553264668	3 SubmittersRCV000618096 RCV000786357 RCV003581698
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)	SNV Germline	Chr1:156134499	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy Charcot-Marie-Tooth disease type 2 Condition: not provided 11 conditions not specified	Criteria Provided Conflicting Classifications	CA342817031	rs_1553265177	7 SubmittersRCV000618027 RCV001185566 RCV001067181 RCV002223883 RCV002483720 RCV005407809
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)	SNV Germline	Chr1:156136380	Conflicting classifications of pathogenicity	Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Familial partial lipodystrophy, Dunnigan type Lethal tight skin contracture syndrome Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Cardiomyopathy Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Condition: not provided Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA049885	rs_368542816	9 SubmittersRCV000621062 RCV000808964 RCV001096945 RCV001096946 RCV001096939 RCV001096940 RCV001102354 RCV001102355 RCV001096942 RCV001096944 RCV001190252 RCV001096941 RCV001096943 RCV001544605 RCV004002668
NM_170707.4(LMNA):c.1608+5G>A	SNV Germline	Chr1:156137237	Likely pathogenic	Cardiovascular phenotype	Criteria Provided Single Submitter	CA658795540	rs_267607539	1 SubmittersRCV000619007
NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)	SNV Unknown	Chr1:156134500	Likely pathogenic	Dilated cardiomyopathy 1A	Criteria Provided Single Submitter	CA342817035	rs_1553265180	1 SubmittersRCV000623152
NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter)	SNV Unknown	Chr1:156137183	Pathogenic	Dilated cardiomyopathy 1A	Criteria Provided Single Submitter	CA342823348	rs_58362413	1 SubmittersRCV000622793
NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)	SNV Germline	Chr1:156137118	Pathogenic/Likely pathogenic	Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA342822966	rs_57730570	4 SubmittersRCV000624376 RCV001070590 RCV004025260 RCV006252381
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)	SNV Germline	Chr1:156115223	Conflicting classifications of pathogenicity	Inborn genetic diseases Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA342808708	rs_1553262007	3 SubmittersRCV000622678 RCV001376156 RCV003133407
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)	SNV Germline	Chr1:156138534	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 11 conditions	Criteria Provided Conflicting Classifications	CA342826551	rs_57830985	4 SubmittersRCV001524890 RCV002404709 RCV002533137 RCV002506519
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)	SNV Germline	Chr1:156114977	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342807133	rs_1553261858	2 SubmittersRCV000626229 RCV003581701
NM_170707.4(LMNA):c.329G>A (p.Arg110His)	SNV Germline	Chr1:156115247	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1A Cardiomyopathy Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA052231	rs_556237236	5 SubmittersRCV000626177 RCV001186690 RCV003106008 RCV004002756 RCV005392183
NM_170707.4(LMNA):c.241T>C (p.Tyr81His)	SNV Germline	Chr1:156115159	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA342808404	rs_1553261977	2 SubmittersRCV000653914 RCV001289082
NM_170707.4(LMNA):c.391C>T (p.Gln131Ter)	SNV Germline	Chr1:156130651	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342815144	rs_1553264593	1 SubmittersRCV000653933
NM_170707.4(LMNA):c.1749G>A (p.Ser583=)	SNV Germline	Chr1:156138538	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiomyopathy not specified Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA31015378	rs_970494454	6 SubmittersRCV000654027 RCV000769732 RCV001662711 RCV002397317 RCV004004118
NM_170707.4(LMNA):c.1890G>A (p.Gly630=)	SNV Germline	Chr1:156138679	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Primary dilated cardiomyopathy Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA051614	rs_770389147	5 SubmittersRCV000653961 RCV002406474 RCV004004115 RCV006275020 RCV006552630
NM_170707.4(LMNA):c.937-1G>A	SNV Germline	Chr1:156135900	Likely pathogenic	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA342819711	rs_1553265606	2 SubmittersRCV000653870 RCV002369757
NM_170707.4(LMNA):c.1380+2T>G	SNV Germline	Chr1:156136438	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342822325	rs_1553265924	1 SubmittersRCV000653953
NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)	SNV Germline	Chr1:156136080	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342820502	rs_1553265736	2 SubmittersRCV000677300 RCV001384174
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)	SNV Germline	Chr1:156136931	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome	Criteria Provided Conflicting Classifications	CA342822430	rs_1281896947	2 SubmittersRCV000680035 RCV000986431
NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)	SNV Germline	Chr1:156136083	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342820516	rs_1340894696	1 SubmittersRCV000704281
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)	SNV Germline	Chr1:156136414	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Condition: not provided Primary dilated cardiomyopathy Familial partial lipodystrophy, Dunnigan type 11 conditions	Criteria Provided Conflicting Classifications	CA049965	rs_267607598	8 SubmittersRCV000690888 RCV001097051 RCV001097053 RCV001102456 RCV001097049 RCV001097050 RCV001097052 RCV001183072 RCV001097054 RCV001102454 RCV001786410 RCV003999552 RCV005250092 RCV005046932
NM_170707.4(LMNA):c.1911C>A (p.Phe637Leu)	SNV Germline	Chr1:156138700	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA026527	rs_117939448	4 SubmittersRCV000702617 RCV001177162 RCV003999732 RCV004639336
NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)	SNV Germline	Chr1:156114922	Pathogenic	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA342805855	rs_1558115754	2 SubmittersRCV000688289 RCV002343440
NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)	SNV Germline	Chr1:156136240	Pathogenic	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA342820935	rs_267607561	2 SubmittersRCV000706257 RCV003165920
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)	SNV Germline	Chr1:156138651	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 not specified Cardiomyopathy Condition: not provided Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA051434	rs_765594825	9 SubmittersRCV000687429 RCV001193913 RCV001191647 RCV001572302 RCV002406543 RCV002493155 RCV004004266
NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)	SNV Germline	Chr1:156115009	Pathogenic	Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342807397	rs_1228406418	2 SubmittersRCV000695532 RCV003456423
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)	SNV Germline	Chr1:156130756	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype 11 conditions Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA053599	rs_370200334	5 SubmittersRCV000695871 RCV002334317 RCV002499247 RCV003532242 RCV003999646
NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)	SNV Germline	Chr1:156115102	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA500017	rs_56793579	2 SubmittersRCV000691484 RCV005870798
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)	SNV Germline	Chr1:156114983	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 11 conditions Dilated cardiomyopathy 1A Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA30999069	rs_1016767319	7 SubmittersRCV000712226 RCV001798969 RCV001318123 RCV002477648 RCV003147538 RCV003999795 RCV005348205
NM_170707.4(LMNA):c.1466T>G (p.Leu489Arg)	SNV Germline	Chr1:156137006	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 LMNA-related disorder	Criteria Provided Conflicting Classifications	CA342822754	rs_1558132909	3 SubmittersRCV000727585 RCV001213786 RCV005870824
NM_170707.4(LMNA):c.1827A>T (p.Gly609=)	SNV Germline	Chr1:156138616	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA421258012	rs_1558135172	3 SubmittersRCV000729234 RCV001443776 RCV002406662
NM_170707.4(LMNA):c.1366A>T (p.Asn456Tyr)	SNV Germline	Chr1:156136422	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342822243	rs_267607599	2 SubmittersRCV000729830 RCV001862185
NM_170707.4(LMNA):c.1968+37C>T	SNV Germline	Chr1:156138794	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 11 conditions	Criteria Provided Conflicting Classifications	CA051810	rs_555070042	3 SubmittersRCV000731456 RCV002067118 RCV005046993
NM_170707.4(LMNA):c.640-52C>T	SNV Germline	Chr1:156134753	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 not specified LMNA-related disorder	Criteria Provided Conflicting Classifications	CA31011218	rs_41314033	7 SubmittersRCV000731588 RCV001511690 RCV001700299 RCV004540059
NM_170707.4(LMNA):c.1530C>T (p.Thr510=)	SNV Germline	Chr1:156137154	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA050588	rs_138098342	4 SubmittersRCV000735004 RCV001088060 RCV002397519 RCV003532253
NM_170707.4(LMNA):c.937-8C>G	SNV Germline	Chr1:156135893	Conflicting classifications of pathogenicity	Cardiomyopathy Charcot-Marie-Tooth disease type 2 Condition: not provided not specified Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA054893	rs_751707982	6 SubmittersRCV000774196 RCV001456120 RCV001796209 RCV001796210 RCV003231611
NM_170707.4(LMNA):c.639+1G>A	SNV Germline	Chr1:156134529	Likely pathogenic	Cardiomyopathy Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342817103	rs_869125101	3 SubmittersRCV000781511 RCV000797832 RCV004702414
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)	SNV Unknown	Chr1:156134892	Likely pathogenic	Dilated cardiomyopathy 1A	Criteria Provided Single Submitter	CA342817279	rs_1165819867	1 SubmittersRCV000785172
NM_170707.4(LMNA):c.810G>C (p.Lys270Asn)	SNV Germline	Chr1:156134975	Likely pathogenic	Abnormality of the musculature	Criteria Provided Single Submitter	CA342817456	rs_267607631	1 SubmittersRCV001836884
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)	SNV Germline	Chr1:156134507	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342817050	rs_267607629	2 SubmittersRCV000788205 RCV002535769
NM_170707.4(LMNA):c.639+9T>C	SNV Germline	Chr1:156134537	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA053923	rs_745768694	2 SubmittersRCV000788525 RCV001501103
NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)	SNV Germline	Chr1:156115012	Pathogenic	Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA342807427	rs_1553261891	2 SubmittersRCV000812291 RCV004789213
NM_170707.4(LMNA):c.116A>T (p.Asn39Ile)	SNV Germline	Chr1:156115034	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342807683	rs_57983345	1 SubmittersRCV000804081
NM_170707.4(LMNA):c.121C>A (p.Arg41Ser)	SNV Germline	Chr1:156115039	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA342807733	rs_1572332164	2 SubmittersRCV000803355 RCV003133634
NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)	SNV Germline	Chr1:156115061	Pathogenic	Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342807944	rs_1572332235	2 SubmittersRCV000800232 RCV003235401
NM_170707.4(LMNA):c.143G>T (p.Arg48Leu)	SNV Germline	Chr1:156115061	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342807945	rs_1572332235	1 SubmittersRCV000811094
NM_170707.4(LMNA):c.214C>T (p.Arg72Cys)	SNV Germline	Chr1:156115132	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA342808277	rs_17847247	3 SubmittersRCV000810112 RCV006347232 RCV006552891
NM_170707.4(LMNA):c.601A>T (p.Lys201Ter)	SNV Germline	Chr1:156134490	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342817012	rs_1572358860	1 SubmittersRCV000805149
NM_170707.4(LMNA):c.1156A>G (p.Arg386Gly)	SNV Germline	Chr1:156136120	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342820683	rs_1572363397	1 SubmittersRCV000801706
NM_170707.4(LMNA):c.1264G>T (p.Glu422Ter)	SNV Germline	Chr1:156136320	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342821502	rs_1448275854	1 SubmittersRCV000823653
NM_170707.4(LMNA):c.1270A>G (p.Thr424Ala)	SNV Germline	Chr1:156136326	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA342821538	rs_1166140426	4 SubmittersRCV000796032 RCV001509064 RCV002370085 RCV003532264
NM_170707.4(LMNA):c.1541G>A (p.Trp514Ter)	SNV Germline	Chr1:156137165	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342823242	rs_1572366412	1 SubmittersRCV000804745
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)	SNV Germline	Chr1:156138533	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy Familial partial lipodystrophy, Dunnigan type 11 conditions	Criteria Provided Conflicting Classifications	CA31015365	rs_918645468	7 SubmittersRCV000806558 RCV001509065 RCV002397643 RCV004001686 RCV004761799 RCV005047089
NM_170707.4(LMNA):c.1949A>G (p.Asn650Ser)	SNV Germline	Chr1:156138738	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA31015708	rs_775728847	4 SubmittersRCV000799271 RCV002462154 RCV003532267 RCV004001623
NM_170707.4(LMNA):c.640-2A>G	SNV Germline	Chr1:156134803	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342817109	rs_1572359505	1 SubmittersRCV000821778
NM_170707.4(LMNA):c.357-2A>G	SNV Germline	Chr1:156130615	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Hepatocellular carcinoma Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA342814936	rs_113610699	3 SubmittersRCV000807553 RCV005902022 RCV005652450
NM_170707.4(LMNA):c.356+5G>A	SNV Germline	Chr1:156115279	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A 11 conditions	Criteria Provided Conflicting Classifications	CA915941455	rs_1572332952	4 SubmittersRCV000822120 RCV004029093 RCV004776298 RCV005049712
NM_170707.4(LMNA):c.811-1G>A	SNV Germline	Chr1:156135186	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342817464	rs_1365042239	3 SubmittersRCV000800997 RCV004028046 RCV005633707
NM_170707.4(LMNA):c.296G>C (p.Arg99Pro)	SNV Germline	Chr1:156115214	Likely pathogenic	Primary familial dilated cardiomyopathy	Criteria Provided Single Submitter	CA342808671	rs_1572332762	1 SubmittersRCV000845422
NM_170707.4(LMNA):c.475G>T (p.Glu159Ter)	SNV Germline	Chr1:156130735	Pathogenic	Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342815562	rs_267607622	2 SubmittersRCV000984808 RCV001068018
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)	SNV Germline	Chr1:156136283	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy 2, autosomal dominant Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2B1 Hutchinson-Gilford syndrome Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy, Dunnigan type Cardiomyopathy not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA049519	rs_762130433	9 SubmittersRCV000865471 RCV001100367 RCV001100369 RCV001102348 RCV001102350 RCV001102352 RCV001102353 RCV001100368 RCV001100370 RCV001102349 RCV001102351 RCV001191849 RCV001700317 RCV001726349 RCV003307601 RCV004002962
NM_170707.4(LMNA):c.1969-4T>C	SNV Germline	Chr1:156139076	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA051906	rs_751715969	6 SubmittersRCV000921791 RCV001179743 RCV001702860 RCV001173404 RCV004807222
NM_170707.4(LMNA):c.937-5T>C	SNV Germline	Chr1:156135896	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiomyopathy Dilated cardiomyopathy 1A Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA31012911	rs_1001248677	4 SubmittersRCV000953808 RCV001180881 RCV001198844 RCV003169470
NM_170707.4(LMNA):c.1969-2A>T	SNV Germline	Chr1:156139078	Likely pathogenic	Dilated cardiomyopathy 1A	Criteria Provided Single Submitter	CA342828427	rs_1572370360	1 SubmittersRCV002249095
NM_170707.4(LMNA):c.80C>T (p.Thr27Ile)	SNV Germline	Chr1:156114998	Likely pathogenic	Congenital muscular dystrophy due to LMNA mutation Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342807313	rs_863225270	2 SubmittersRCV000991275 RCV005092985
NM_170707.4(LMNA):c.122G>C (p.Arg41Pro)	SNV Germline	Chr1:156115040	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342807746	rs_1060502215	1 SubmittersRCV000994130
NM_170707.4(LMNA):c.1146C>A (p.Gly382=)	SNV Germline	Chr1:156136110	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA421257875	rs_57508089	1 SubmittersRCV000994132
NM_170707.4(LMNA):c.1182C>T (p.Thr394=)	SNV Germline	Chr1:156136238	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA421257939	rs_1409406468	4 SubmittersRCV000994134 RCV001439975 RCV002337050 RCV006545745
NM_170707.4(LMNA):c.274C>G (p.Leu92Val)	SNV Germline	Chr1:156115192	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA342808563	rs_267607560	3 SubmittersRCV001054035 RCV001170450 RCV004031698
NM_170707.4(LMNA):c.409C>G (p.Leu137Val)	SNV Germline	Chr1:156130669	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA342815251	rs_747998566	2 SubmittersRCV001064120 RCV001253095
NM_170707.4(LMNA):c.659G>A (p.Arg220His)	SNV Germline	Chr1:156134824	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype Condition: not provided Congenital muscular dystrophy due to LMNA mutation Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA054066	rs_780066296	6 SubmittersRCV001062157 RCV001181352 RCV002365743 RCV002462304 RCV003989636 RCV004000123
NM_170707.4(LMNA):c.1304G>A (p.Arg435His)	SNV Germline	Chr1:156136360	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Emery-Dreifuss muscular dystrophy 3, autosomal recessive Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Criteria Provided Conflicting Classifications	CA342821813	rs_1263919141	4 SubmittersRCV001054840 RCV003130131 RCV003458326 RCV003333129
NM_170707.4(LMNA):c.1368C>G (p.Asn456Lys)	SNV Germline	Chr1:156136424	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342822254	rs_61235244	1 SubmittersRCV001044424
NM_170707.4(LMNA):c.1645G>A (p.Val549Met)	SNV Germline	Chr1:156137690	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA050866	rs_781774834	2 SubmittersRCV001040478 RCV001525577
NM_170707.4(LMNA):c.639+1G>T	SNV Germline	Chr1:156134529	Likely pathogenic	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA342817104	rs_869125101	2 SubmittersRCV001065501 RCV002355077
NM_170707.4(LMNA):c.1488+1G>T	SNV Germline	Chr1:156137029	Pathogenic	Charcot-Marie-Tooth disease type 2 Melanoma	Criteria Provided Single Submitter	CA342822851	rs_267607640	2 SubmittersRCV001048954 RCV005912494
NM_170707.4(LMNA):c.937-9C>A	SNV Germline	Chr1:156135892	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA916080235	rs_1332011298	2 SubmittersRCV001068265 RCV004000174
NM_170707.4(LMNA):c.1158-1G>T	SNV Germline	Chr1:156136213	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342820746	rs_1651598289	1 SubmittersRCV001049778
NM_170707.4(LMNA):c.1968+3G>A	SNV Germline	Chr1:156138760	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA526670822	rs_1250284097	2 SubmittersRCV001092176 RCV001177999
NM_005572.3(LMNA):c.-223C>T	SNV Germline	Chr1:156114696	Conflicting classifications of pathogenicity	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy 2, autosomal dominant Mandibuloacral dysplasia with type A lipodystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA30998964	rs_188625872	2 SubmittersRCV001099599 RCV001097799 RCV001097800 RCV001099593 RCV001099598 RCV001099600 RCV001099594 RCV001099595 RCV001099596 RCV001099597 RCV001564412
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)	SNV Germline	Chr1:156136394	Conflicting classifications of pathogenicity	Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Mandibuloacral dysplasia with type A lipodystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Dilated cardiomyopathy 1A Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA049944	rs_505058	4 SubmittersRCV001100501 RCV001100503 RCV001100502 RCV001100505 RCV001100506 RCV001100504 RCV001102452 RCV001102453 RCV001102451 RCV001102450 RCV001186448 RCV005093479 RCV004807306
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)	SNV Germline	Chr1:156134521	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1A	Criteria Provided Conflicting Classifications	CA31011025	rs_987157491	7 SubmittersRCV001170452 RCV001175610 RCV001301048 RCV002355132 RCV003132248 RCV004000271 RCV004587059
NM_170707.4(LMNA):c.215G>A (p.Arg72His)	SNV Germline	Chr1:156115133	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA052051	rs_727504340	2 SubmittersRCV001186710 RCV005405531
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)	SNV Germline	Chr1:156135970	Conflicting classifications of pathogenicity	Cardiomyopathy Charcot-Marie-Tooth disease type 2 11 conditions Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA342820181	rs_1237093879	6 SubmittersRCV001183937 RCV001876124 RCV002484004 RCV003314669 RCV004008421 RCV004994286
NM_170707.4(LMNA):c.1230G>A (p.Gln410=)	SNV Germline	Chr1:156136286	Conflicting classifications of pathogenicity	Cardiomyopathy 11 conditions Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA421258004	rs_1651615685	3 SubmittersRCV001187184 RCV005040002 RCV004008679
NM_170707.4(LMNA):c.1580G>T (p.Arg527Leu)	SNV Germline	Chr1:156137204	Conflicting classifications of pathogenicity	Cardiomyopathy Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA342823487	rs_57520892	3 SubmittersRCV001178403 RCV001875896 RCV004807330
NM_170707.4(LMNA):c.1699-7T>C	SNV Germline	Chr1:156138481	Conflicting classifications of pathogenicity	Cardiomyopathy Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2 Condition: not provided Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA051132	rs_771074100	6 SubmittersRCV001180930 RCV001262512 RCV001469235 RCV002264213 RCV004006700
NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser)	SNV Germline	Chr1:156136087	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342820537	rs_879254162	3 SubmittersRCV001193914 RCV003480983 RCV005094031
NM_170707.4(LMNA):c.550C>T (p.Gln184Ter)	SNV Germline	Chr1:156134439	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342816797	rs_1651341099	2 SubmittersRCV001200924 RCV003117843
NM_170707.4(LMNA):c.92A>G (p.Glu31Gly)	SNV Germline	Chr1:156115010	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342807411	rs_1649709575	1 SubmittersRCV001214508
NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys)	SNV Germline	Chr1:156136111	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Condition: not provided Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Multiple Submitters No Conflicts	CA342820637	rs_1651580090	3 SubmittersRCV001220492 RCV003129737 RCV003313994
NM_170707.4(LMNA):c.115A>C (p.Asn39His)	SNV Germline	Chr1:156115033	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342807660	rs_267607627	1 SubmittersRCV001204509
NM_170707.4(LMNA):c.163G>T (p.Glu55Ter)	SNV Germline	Chr1:156115081	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342808052	rs_1649719689	1 SubmittersRCV001211199
NM_170707.4(LMNA):c.217G>T (p.Glu73Ter)	SNV Germline	Chr1:156115135	Pathogenic	Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342808287	rs_1649727816	2 SubmittersRCV001212067 RCV001780125
NM_170707.4(LMNA):c.590T>C (p.Leu197Pro)	SNV Germline	Chr1:156134479	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342816986	rs_1651348222	1 SubmittersRCV001208397
NM_170707.4(LMNA):c.1149G>T (p.Glu383Asp)	SNV Germline	Chr1:156136113	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342820650	rs_267607603	1 SubmittersRCV001210900
NM_170707.4(LMNA):c.1558T>A (p.Trp520Arg)	SNV Germline	Chr1:156137182	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342823345	rs_267607557	1 SubmittersRCV001213240
NM_170707.4(LMNA):c.265C>G (p.Arg89Gly)	SNV Germline	Chr1:156115183	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342808520	rs_267607559	1 SubmittersRCV001232305
NM_170707.4(LMNA):c.934C>T (p.Gln312Ter)	SNV Germline	Chr1:156135310	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342818090	rs_1651466808	1 SubmittersRCV001232733
NM_170707.4(LMNA):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr1:156136024	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342820294	rs_1651564707	1 SubmittersRCV001237127
NM_170707.4(LMNA):c.1399T>A (p.Trp467Arg)	SNV Germline	Chr1:156136939	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342822470	rs_267607639	1 SubmittersRCV001236829
NM_170707.4(LMNA):c.1444C>G (p.Arg482Gly)	SNV Germline	Chr1:156136984	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA342822665	rs_57920071	2 SubmittersRCV001238528 RCV006347577
NM_170707.4(LMNA):c.185G>T (p.Arg62Leu)	SNV Germline	Chr1:156115103	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342808119	rs_1649721643	1 SubmittersRCV001247423
NM_170707.4(LMNA):c.832G>A (p.Ala278Thr)	SNV Germline	Chr1:156135208	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 LMNA-related disorder Cardiomyopathy	Criteria Provided Conflicting Classifications	CA342817512	rs_1553265433	4 SubmittersRCV001289083 RCV001863151 RCV004528448 RCV005403014
NM_170707.4(LMNA):c.869A>T (p.Glu290Val)	SNV Germline	Chr1:156135245	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342817680	rs_1651453317	1 SubmittersRCV001326041
NM_170707.4(LMNA):c.1608A>G (p.Glu536=)	SNV Germline	Chr1:156137232	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA421069209	rs_1651737692	2 SubmittersRCV001324017 RCV004995681
NM_170707.4(LMNA):c.133T>C (p.Tyr45His)	SNV Germline	Chr1:156115051	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1A Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342807839	rs_1649714371	3 SubmittersRCV001328735 RCV001823197 RCV003581785
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)	SNV Germline	Chr1:156115105	Conflicting classifications of pathogenicity	Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2 not specified 11 conditions Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA30999173	rs_899373360	6 SubmittersRCV001330500 RCV001367762 RCV001823769 RCV002499650 RCV003365335 RCV006548147
NM_170707.4(LMNA):c.810+17G>A	SNV Germline	Chr1:156134992	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA054361	rs_771192755	2 SubmittersRCV001337052 RCV003745314
NM_170707.4(LMNA):c.937-7C>A	SNV Germline	Chr1:156135894	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 not specified Cardiomyopathy	Criteria Provided Conflicting Classifications	CA31012903	rs_267607681	3 SubmittersRCV001367857 RCV001820069 RCV005401831
NM_170707.4(LMNA):c.1040A>C (p.Glu347Ala)	SNV Germline	Chr1:156136004	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342820250	rs_1449688220	1 SubmittersRCV001373565
NM_170707.4(LMNA):c.1115A>T (p.Glu372Val)	SNV Germline	Chr1:156136079	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA342820500	rs_2102888292	2 SubmittersRCV001366528 RCV002438853
NM_170707.4(LMNA):c.112C>G (p.Leu38Val)	SNV Germline	Chr1:156115030	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342807628	rs_2102817550	1 SubmittersRCV001379195
NM_170707.4(LMNA):c.513+2T>C	SNV Germline	Chr1:156130775	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342815748	rs_1553264668	1 SubmittersRCV001377378
NM_170707.4(LMNA):c.1A>T (p.Met1Leu)	SNV Germline	Chr1:156114919	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342805814	rs_2102816719	1 SubmittersRCV001390690
NM_170707.4(LMNA):c.194A>G (p.Glu65Gly)	SNV Germline	Chr1:156115112	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342808163	rs_2102818172	2 SubmittersRCV001387324 RCV005635147
NM_170707.4(LMNA):c.275T>C (p.Leu92Pro)	SNV Germline	Chr1:156115193	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342808568	rs_2102818731	1 SubmittersRCV001384525
NM_170707.4(LMNA):c.481G>T (p.Glu161Ter)	SNV Germline	Chr1:156130741	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342815589	rs_28933093	1 SubmittersRCV001381102
NM_170707.4(LMNA):c.1150G>A (p.Glu384Lys)	SNV Germline	Chr1:156136114	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342820652	rs_2102888695	1 SubmittersRCV001381143
NM_170707.4(LMNA):c.1414C>T (p.Gln472Ter)	SNV Germline	Chr1:156136954	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342822539	rs_2102893828	1 SubmittersRCV001390362
NM_170707.4(LMNA):c.1608+2T>G	SNV Germline	Chr1:156137234	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA342823673	rs_2102896324	2 SubmittersRCV001388734 RCV002395876
NM_170707.4(LMNA):c.992G>T (p.Arg331Leu)	SNV Germline	Chr1:156135956	Likely pathogenic	Dilated cardiomyopathy 1A	No Assertion Criteria Provided	CA342820152	rs_59301204	1 SubmittersRCV001775173
NM_170707.4(LMNA):c.1362G>A (p.Leu454=)	SNV Germline	Chr1:156136418	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA049977	rs_151160622	3 SubmittersRCV001453275 RCV002384705 RCV004007051
NM_170707.4(LMNA):c.776A>G (p.Tyr259Cys)	SNV Germline	Chr1:156134941	Likely pathogenic	Abnormality of the musculature	Criteria Provided Single Submitter	CA342817382	rs_2102881813	1 SubmittersRCV001814547
NM_170707.4(LMNA):c.433G>T (p.Glu145Ter)	SNV Germline	Chr1:156130693	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342815390	rs_60310264	1 SubmittersRCV001547102
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro)	SNV Germline	Chr1:156135902	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA342819726	rs_2102886618	3 SubmittersRCV001866011 RCV001568706
NM_170707.4(LMNA):c.1699-2A>G	SNV Unknown	Chr1:156138486	Likely pathogenic	Familial partial lipodystrophy, Dunnigan type	Criteria Provided Single Submitter	CA342826194	rs_2102901069	1 SubmittersRCV001706860
NM_170707.4(LMNA):c.308A>G (p.Gln103Arg)	SNV Germline	Chr1:156115226	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA342808721	rs_2102818914	2 SubmittersRCV001730263
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe)	SNV Germline	Chr1:156115030	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Conflicting Classifications	CA342807643	rs_2102817550	3 SubmittersRCV001733771 RCV001861044 RCV003136132
NM_170707.4(LMNA):c.164A>G (p.Glu55Gly)	SNV Unknown	Chr1:156115082	Likely pathogenic	Hutchinson-Gilford syndrome	Criteria Provided Single Submitter	CA342808056	rs_2102817930	1 SubmittersRCV001754577
NM_170707.4(LMNA):c.513+1G>T	SNV Germline	Chr1:156130774	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA31008128	rs_397517904	1 SubmittersRCV001782389
NM_170707.4(LMNA):c.1342G>T (p.Glu448Ter)	SNV Germline	Chr1:156136398	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342822109	rs_2102891243	2 SubmittersRCV001782390 RCV002541204
NM_170707.4(LMNA):c.370G>A (p.Glu124Lys)	SNV Germline	Chr1:156130630	Conflicting classifications of pathogenicity	Cardiomyopathy Dilated cardiomyopathy 1A	Criteria Provided Conflicting Classifications	CA342815036	rs_2102865393	2 SubmittersRCV001799387 RCV003319227
NM_170707.4(LMNA):c.1584G>C (p.Thr528=)	SNV Germline	Chr1:156137208	Conflicting classifications of pathogenicity	Cardiomyopathy Charcot-Marie-Tooth disease type 2 Condition: not provided Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA421069173	rs_80356812	4 SubmittersRCV001805618 RCV002542409 RCV003130550 RCV004808133
NM_170707.4(LMNA):c.1698+1G>A	SNV Germline	Chr1:156137744	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA342825918	rs_1553266337	4 SubmittersRCV001813872 RCV001885299 RCV004009160 RCV006550542
NM_170707.4(LMNA):c.1396A>G (p.Asn466Asp)	SNV Germline	Chr1:156136936	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342822454	rs_2102893640	1 SubmittersRCV001817655
NM_170707.4(LMNA):c.810+2T>C	SNV Germline	Chr1:156134977	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342817459	rs_2102882192	2 SubmittersRCV001817692 RCV002542701
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)	SNV Germline	Chr1:156115086	Likely pathogenic	7 conditions	Criteria Provided Single Submitter	CA342808067	rs_2102817952	1 SubmittersRCV001829276
NM_170707.4(LMNA):c.203A>T (p.Glu68Val)	SNV Germline	Chr1:156115121	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342808225	rs_2102818240	1 SubmittersRCV001919151
NM_170707.4(LMNA):c.280T>C (p.Ser94Pro)	SNV Germline	Chr1:156115198	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342808593	rs_2102818745	1 SubmittersRCV001870422
NM_170707.4(LMNA):c.811-2A>G	SNV Germline	Chr1:156135185	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA342817461	rs_2102883099	2 SubmittersRCV001959700 RCV005868503
NM_170707.4(LMNA):c.142C>G (p.Arg48Gly)	SNV Germline	Chr1:156115060	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA050260	rs_769977710	1 SubmittersRCV001881619
NM_170707.4(LMNA):c.593A>C (p.Gln198Pro)	SNV Germline	Chr1:156134482	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342816991	rs_2102878915	1 SubmittersRCV001975882
NM_170707.4(LMNA):c.422T>C (p.Leu141Pro)	SNV Germline	Chr1:156130682	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342815328	rs_2102865805	1 SubmittersRCV001905256
NM_170707.4(LMNA):c.266G>C (p.Arg89Pro)	SNV Germline	Chr1:156115184	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA342808527	rs_59040894	2 SubmittersRCV001942368 RCV004785349
NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn)	SNV Germline	Chr1:156136033	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA342820311	rs_267607567	3 SubmittersRCV001908860 RCV002407031 RCV004719194
NM_170707.4(LMNA):c.936G>A (p.Gln312=)	SNV Germline	Chr1:156135312	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA421068710	rs_2102884287	2 SubmittersRCV002047096 RCV006280707
NM_170707.4(LMNA):c.11C>A (p.Pro4Gln)	SNV Germline	Chr1:156114929	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype 11 conditions	Criteria Provided Conflicting Classifications	CA342805937	rs_267607620	3 SubmittersRCV002010787 RCV004990559 RCV005050511
NM_170707.4(LMNA):c.674G>T (p.Arg225Leu)	SNV Germline	Chr1:156134839	Likely pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342817174	rs_199474724	1 SubmittersRCV001942505
NM_170707.4(LMNA):c.125T>C (p.Leu42Ser)	SNV Germline	Chr1:156115043	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342807769	rs_2102817644	1 SubmittersRCV001976882
NM_170707.4(LMNA):c.135C>G (p.Tyr45Ter)	SNV Germline	Chr1:156115053	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342807859	rs_2102817698	1 SubmittersRCV002002508
NM_170707.4(LMNA):c.1115A>G (p.Glu372Gly)	SNV Germline	Chr1:156136079	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342820499	rs_2102888292	1 SubmittersRCV001968762
NM_170707.4(LMNA):c.43C>T (p.Gln15Ter)	SNV Germline	Chr1:156114961	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342806990	rs_2102817088	1 SubmittersRCV001949326
NM_170707.4(LMNA):c.128C>A (p.Ala43Glu)	SNV Germline	Chr1:156115046	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342807802	rs_2102817667	1 SubmittersRCV001956044
NM_170707.4(LMNA):c.1542G>A (p.Trp514Ter)	SNV Germline	Chr1:156137166	Pathogenic	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA342823253	rs_2102895466	2 SubmittersRCV001949332 RCV004990502
NM_170707.4(LMNA):c.334G>T (p.Glu112Ter)	SNV Germline	Chr1:156115252	Pathogenic	Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA342808861	rs_1553262031	1 SubmittersRCV001962574
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)	SNV Germline	Chr1:156115162	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 11 conditions not specified	Criteria Provided Conflicting Classifications	CA342808417	rs_59270054	3 SubmittersRCV002041238 RCV002498066 RCV003994380
NM_170707.4(LMNA):c.1608+2T>A	SNV Germline	Chr1:156137234	Likely pathogenic	Dilated cardiomyopathy 1A	Criteria Provided Single Submitter	CA342823669	rs_2102896324	1 SubmittersRCV002052057
NM_170707.4(LMNA):c.379C>T (p.Leu127=)	SNV Germline	Chr1:156130639	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA421068214	rs_1428192739	2 SubmittersRCV002139919 RCV003533135
NM_170707.4(LMNA):c.1236G>A (p.Gly412=)	SNV Germline	Chr1:156136292	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA421258013	rs_763537103	2 SubmittersRCV002091664 RCV006553048
NM_170707.4(LMNA):c.937-6C>A	SNV Germline	Chr1:156135895	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA31012909	rs_759083379	2 SubmittersRCV002162381 RCV004011195
NM_170707.4(LMNA):c.357-3748C>T	SNV Germline	Chr1:156126869	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA31005437	rs_1048086299	3 SubmittersRCV002224332 RCV004700694
NM_170707.4(LMNA):c.717C>A (p.Ser239Arg)	SNV Germline	Chr1:156134882	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342817262	rs_2102881081	2 SubmittersRCV002226591 RCV005095784
NM_170707.4(LMNA):c.1381-2A>C	SNV Germline	Chr1:156136919	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	No Assertion Criteria Provided	CA342822375	rs_267607600	1 SubmittersRCV002281663
NM_170707.4(LMNA):c.971A>G (p.Glu324Gly)	SNV Germline	Chr1:156135935	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342820046	rs_2102886914	2 SubmittersRCV002267267 RCV003096060
NM_170707.4(LMNA):c.784G>A (p.Glu262Lys)	SNV Germline	Chr1:156134949	Likely pathogenic	Hutchinson-Gilford syndrome	Criteria Provided Single Submitter	CA342817401	rs_397517909	1 SubmittersRCV002271733
NM_170707.4(LMNA):c.658C>G (p.Arg220Gly)	SNV Germline	Chr1:156134823	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342817147	rs_370134870	2 SubmittersRCV002281466 RCV003581815
NM_170707.4(LMNA):c.633C>G (p.Tyr211Ter)	SNV Germline	Chr1:156134522	Pathogenic	Cardiovascular phenotype	Criteria Provided Single Submitter	CA342817086	rs_2527968714	1 SubmittersRCV002354035
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)	SNV Germline	Chr1:156134482	Conflicting classifications of pathogenicity	Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 11 conditions Cardiomyopathy	Criteria Provided Conflicting Classifications	CA342816992	rs_2102878915	4 SubmittersRCV002355911 RCV003098072 RCV005042815 RCV006553228
NM_170707.4(LMNA):c.913C>T (p.Gln305Ter)	SNV Germline	Chr1:156135289	Pathogenic	Cardiovascular phenotype	Criteria Provided Single Submitter	CA342817895	rs_2527981305	1 SubmittersRCV002378765
NM_170707.4(LMNA):c.937-2A>G	SNV Germline	Chr1:156135899	Pathogenic/Likely pathogenic	Cardiovascular phenotype Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA342819702	rs_2527988932	4 SubmittersRCV002371739 RCV005433217 RCV006469930
NM_170707.4(LMNA):c.937-3C>T	SNV Germline	Chr1:156135898	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA054845	rs_756694090	2 SubmittersRCV002371740 RCV003533213
NM_170707.4(LMNA):c.178C>A (p.Arg60Ser)	SNV Germline	Chr1:156115096	Conflicting classifications of pathogenicity	Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA342808090	rs_28928900	2 SubmittersRCV002407755 RCV006620620
NM_170707.4(LMNA):c.244G>T (p.Glu82Ter)	SNV Germline	Chr1:156115162	Pathogenic	Cardiovascular phenotype	Criteria Provided Single Submitter	CA342808415	rs_59270054	1 SubmittersRCV002430693
NM_170707.4(LMNA):c.807C>G (p.Ala269=)	SNV Germline	Chr1:156134972	Conflicting classifications of pathogenicity	Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA421068577	rs_1194309507	4 SubmittersRCV002475097 RCV004007474 RCV006559485
NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)	SNV Germline	Chr1:156130624	Pathogenic	Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA342814995	rs_1222398892	2 SubmittersRCV003091152 RCV004071975
NM_170707.4(LMNA):c.893G>A (p.Arg298His)	SNV Germline	Chr1:156135269	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA31011856	rs_762653476	5 SubmittersRCV003085902 RCV004009388 RCV004786826 RCV005402002

NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)

SNV
Germline

Chr1:156114934

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Single Submitter

CA017675

rs_61046466

4 SubmittersRCV000015564 RCV000041328 RCV000057350

NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)

SNV
Germline

Chr1:156136413

Pathogenic/Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Muscular dystrophy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Abnormality of the musculature
Congenital muscular dystrophy due to LMNA mutation
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017033

rs_58932704

22 SubmittersRCV000015565 RCV000057273 RCV000500734 RCV000472112 RCV001095717 RCV001813989 RCV003313922 RCV004639121

NM_170707.4(LMNA):c.178C>G (p.Arg60Gly)

SNV
Germline

Chr1:156115096

Pathogenic

Familial partial lipodystrophy, Dunnigan type
Dilated cardiomyopathy 1A
Condition: not provided

No Assertion Criteria Provided

CA017722

rs_28928900

2 SubmittersRCV000015567 RCV000015566 RCV000057359

NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)

SNV
Germline/somatic

Chr1:156137204

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017498

rs_57520892

8 SubmittersRCV000015569 RCV000015570 RCV000057327 RCV000700159 RCV001375641 RCV004018633

NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro)

SNV
Germline

Chr1:156137213

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided

No Assertion Criteria Provided

CA017541

rs_60934003

2 SubmittersRCV000015571 RCV000057333

NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)

SNV
Germline

Chr1:156134474

Pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018275

rs_28933091

7 SubmittersRCV000015572 RCV000057425 RCV000211789 RCV000794743 RCV005589769

NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)

SNV
Germline

Chr1:156134497

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018298

rs_28933092

5 SubmittersRCV000015573 RCV000057428 RCV000211791 RCV003581565

NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)

SNV
Germline

Chr1:156137756

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017694

rs_80338938

11 SubmittersRCV000015574 RCV000057044 RCV000705473 RCV001189216 RCV003993745 RCV004018634

NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)

SNV
Germline

Chr1:156136985

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Laminopathy
Condition: not provided
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Charcot-Marie-Tooth disease type 2
Monogenic diabetes
11 conditions
Cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Primary dilated cardiomyopathy
LMNA-related disorder
Lipodystrophy - childhood onset
7 conditions

Criteria Provided
Conflicting Classifications

CA014814

rs_11575937

22 SubmittersRCV000015575 RCV000041318 RCV000057299 RCV000190399 RCV000459624 RCV000754814 RCV000763258 RCV001179839 RCV001822996 RCV002390111 RCV004806012 RCV004532361 RCV006629059 RCV005862720

NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)

SNV
Germline

Chr1:156137203

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided
Hutchinson-Gilford syndrome
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A

Criteria Provided
Conflicting Classifications

CA017487

rs_57318642

11 SubmittersRCV000015576 RCV000057324 RCV000192011 RCV001185736 RCV001223656 RCV002288492 RCV003996098 RCV003319169

NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)

SNV
Germline

Chr1:156130658

Pathogenic

Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford progeria syndrome, childhood-onset
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018044

rs_60864230

3 SubmittersRCV000015577 RCV000015578 RCV000057399 RCV001387326

NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)

SNV
Germline

Chr1:156136984

Pathogenic/Likely pathogenic

Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Familial partial lipodystrophy
Cardiovascular phenotype
11 conditions
LMNA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA017258

rs_57920071

13 SubmittersRCV000015579 RCV000057298 RCV001235764 RCV001174239 RCV001248961 RCV002390112 RCV002482872 RCV004532362

NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)

SNV
Germline

Chr1:156136934

Pathogenic/Likely pathogenic

Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017164

rs_61282106

4 SubmittersRCV000015584 RCV000057287 RCV001851878

NM_170707.4(LMNA):c.1745G>A (p.Arg582His)

SNV
Germline

Chr1:156138534

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
LMNA-related disorder
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA020309

rs_57830985

9 SubmittersRCV000015585 RCV000057353 RCV001068657 RCV001804734 RCV002399327 RCV004532363 RCV003996099 RCV004795416

NM_170707.4(LMNA):c.1130G>A (p.Arg377His)

SNV
Germline

Chr1:156136094

Pathogenic

Condition: not provided
Muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2
Sudden unexplained death
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA016651

rs_61672878

12 SubmittersRCV000057235 RCV000503996 RCV000681569 RCV000547164 RCV001089610 RCV002321484 RCV003319170 RCV005859465 RCV005042056

NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)

SNV
Germline

Chr1:156135268

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B1
Condition: not provided
Charcot-Marie-Tooth disease type 2
Autosomal recessive axonal hereditary motor and sensory neuropathy
Hutchinson-Gilford syndrome
Cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Cardiovascular phenotype
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA018809

rs_59885338

22 SubmittersRCV000015590 RCV000057479 RCV000653885 RCV000826146 RCV000986429 RCV001176301 RCV002467495 RCV003162253 RCV003996100 RCV005042057

NM_170707.4(LMNA):c.1580G>A (p.Arg527His)

SNV
Germline

Chr1:156137204

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy, atypical
Condition: not provided
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA014822

rs_57520892

16 SubmittersRCV000015592 RCV000057326 RCV000015591 RCV000148607 RCV000555364 RCV001178367 RCV001174240 RCV002399328 RCV003996101 RCV005042058

NM_170707.4(LMNA):c.1824C>T (p.Gly608=)

SNV
Germline

Chr1:156138613

Pathogenic

Hutchinson-Gilford syndrome
Condition: not provided
Hutchinson-Gilford syndrome
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Restrictive dermopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA015291

rs_58596362

11 SubmittersRCV000015593 RCV000057364 RCV000150957 RCV000806737 RCV001847608

NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)

SNV
Germline

Chr1:156138611

Pathogenic

Hutchinson-Gilford syndrome
Condition: not provided

No Assertion Criteria Provided

CA015235

rs_61064130

3 SubmittersRCV000015595 RCV000057363

NM_170707.4(LMNA):c.433G>A (p.Glu145Lys)

SNV
Germline

Chr1:156130693

Pathogenic

Hutchinson-Gilford progeria syndrome, atypical
Condition: not provided
Hutchinson-Gilford syndrome

No Assertion Criteria Provided

CA018095

rs_60310264

3 SubmittersRCV000015596 RCV000057406 RCV000192009

NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)

SNV
Germline

Chr1:156136951

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy, atypical
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017213

rs_28928902

9 SubmittersRCV000015597 RCV000057293 RCV001246687 RCV005582255

NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)

SNV
Germline

Chr1:156130741

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018140

rs_28933093

19 SubmittersRCV000015598 RCV000057409 RCV000211788 RCV000687241 RCV001170451 RCV003318333 RCV004018635

NM_170707.4(LMNA):c.169G>C (p.Ala57Pro)

SNV
Germline

Chr1:156115087

Pathogenic

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Condition: not provided

No Assertion Criteria Provided

CA017669

rs_28928903

2 SubmittersRCV000015600 RCV000057349

NM_170707.4(LMNA):c.419T>G (p.Leu140Arg)

SNV
Germline

Chr1:156130679

Pathogenic

Hutchinson-Gilford progeria syndrome, childhood-onset
Condition: not provided

No Assertion Criteria Provided

CA018076

rs_60652225

2 SubmittersRCV000015601 RCV000057403

NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)

SNV
Germline

Chr1:156130658

Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018038

rs_60864230

3 SubmittersRCV000015602 RCV000057398 RCV000686691

NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn)

SNV
Germline

Chr1:156137671

Pathogenic

Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided

No Assertion Criteria Provided

CA017637

rs_56673169

2 SubmittersRCV000015603 RCV000057346

NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)

SNV
Germline

Chr1:156130688

Pathogenic

Congenital muscular dystrophy due to LMNA mutation
Condition: not provided

No Assertion Criteria Provided

CA018089

rs_58912633

2 SubmittersRCV000015604 RCV000057405

NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)

SNV
Germline

Chr1:156134942

Pathogenic/Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018615

rs_58048078

6 SubmittersRCV000015605 RCV000057457 RCV005089263

NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)

SNV
Germline

Chr1:156137017

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA017298

rs_56699480

4 SubmittersRCV000015609 RCV000057304 RCV004698335

NM_170707.4(LMNA):c.1821G>A (p.Val607=)

SNV
Germline

Chr1:156138610

Pathogenic

Hutchinson-Gilford syndrome
Condition: not provided

No Assertion Criteria Provided

CA015226

rs_59886214

3 SubmittersRCV000015611 RCV000057362

NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)

SNV
Germline

Chr1:156138507

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy, atypical
Familial partial lipodystrophy, Dunnigan type
not specified
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Familial partial lipodystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
11 conditions

Criteria Provided
Conflicting Classifications

CA020299

rs_60890628

23 SubmittersRCV000015612 RCV000015613 RCV000015614 RCV000041329 RCV000057351 RCV000617932 RCV000653881 RCV001188887 RCV001248900 RCV002221478 RCV002509159 RCV005042059

NM_170707.4(LMNA):c.688G>A (p.Asp230Asn)

SNV
Germline

Chr1:156134853

Pathogenic

Familial partial lipodystrophy, Dunnigan type
Condition: not provided

No Assertion Criteria Provided

CA018460

rs_61214927

2 SubmittersRCV000015615 RCV000057443

NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)

SNV
Germline

Chr1:156136251

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Primary dilated cardiomyopathy
Cardiovascular phenotype
11 conditions

Criteria Provided
Conflicting Classifications

CA016847

rs_58672172

10 SubmittersRCV000015616 RCV000057255 RCV000653937 RCV001188431 RCV001174241 RCV001257937 RCV002336085 RCV005042060

NM_170707.4(LMNA):c.1318G>A (p.Val440Met)

SNV
Germline

Chr1:156136374

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy, atypical
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
not specified
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA016999

rs_121912493

10 SubmittersRCV000015617 RCV000057268 RCV000552191 RCV001172618 RCV001264435 RCV001186220 RCV002381252 RCV003996102 RCV005049339

NM_170707.4(LMNA):c.1585G>A (p.Ala529Thr)

SNV
Germline

Chr1:156137209

Pathogenic

Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided

No Assertion Criteria Provided

CA017528

rs_121912494

2 SubmittersRCV000015619 RCV000057331

NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)

SNV
Germline

Chr1:156136103

Pathogenic

Congenital muscular dystrophy due to LMNA mutation
Condition: not provided

No Assertion Criteria Provided

CA016670

rs_121912495

2 SubmittersRCV000015620 RCV000057237

NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)

SNV
Germline

Chr1:156134910

Pathogenic/Likely pathogenic

Congenital muscular dystrophy due to LMNA mutation
Condition: not provided
Charcot-Marie-Tooth disease type 2
LMNA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA018559

rs_121912496

11 SubmittersRCV000015621 RCV000057452 RCV000814531 RCV005229797

NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)

SNV
Germline

Chr1:156136036

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Condition: not provided
Charcot-Marie-Tooth disease type 2
Muscular dystrophy
Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA016555

rs_60458016

12 SubmittersRCV000015622 RCV000015623 RCV000057227 RCV000470514 RCV000502108 RCV001420791

NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)

SNV
Germline

Chr1:156138719

Conflicting classifications of pathogenicity

Variant of unknown significance
Condition: not provided
not specified
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Monogenic diabetes
Familial partial lipodystrophy, Dunnigan type
LMNA-related disorder
11 conditions

Criteria Provided
Conflicting Classifications

CA014882

rs_142000963

27 SubmittersRCV000015626 RCV000057374 RCV000041340 RCV000148602 RCV000144868 RCV000245284 RCV000755679 RCV000771143 RCV001084244 RCV001174411 RCV002467497 RCV004528114 RCV003224100

NM_170707.4(LMNA):c.176T>G (p.Leu59Arg)

SNV
Germline

Chr1:156115094

Pathogenic

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Condition: not provided

No Assertion Criteria Provided

CA017717

rs_58922911

2 SubmittersRCV000015627 RCV000057357

NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly)

SNV
Germline

Chr1:156137666

Pathogenic

Dilated cardiomyopathy 1A
Condition: not provided

No Assertion Criteria Provided

CA017607

rs_56984562

2 SubmittersRCV000022641 RCV000057342

NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)

SNV
Germline

Chr1:156135967

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Left ventricular noncompaction
Heart-hand syndrome, Slovenian type
Arrhythmogenic right ventricular cardiomyopathy
Laminopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A
11 conditions
Cardiomyopathy
Primary familial dilated cardiomyopathy
LMNA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA016426

rs_386134243

20 SubmittersRCV000030145 RCV000182368 RCV000546102 RCV000620788 RCV000845456 RCV000721960 RCV000852407 RCV000844672 RCV001196390 RCV002477025 RCV003149579 RCV003492303 RCV004532421

NM_170707.4(LMNA):c.1381-2A>G

SNV
Germline

Chr1:156136919

Pathogenic

Congenital muscular dystrophy due to LMNA mutation
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA017133

rs_267607600

3 SubmittersRCV000030147 RCV000057284 RCV005403727

NM_170707.4(LMNA):c.1412G>A (p.Arg471His)

SNV
Germline

Chr1:156136952

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA017220

rs_267607578

18 SubmittersRCV000030148 RCV000057294 RCV000154177 RCV000621248 RCV000653872 RCV006547503

NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)

SNV
Germline

Chr1:156134839

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Condition: not provided
Abnormality of the musculature
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA018437

rs_199474724

9 SubmittersRCV000034134 RCV000190400 RCV001178806 RCV001384595 RCV001781340 RCV001814022 RCV003996150 RCV005042105

NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro)

SNV
Germline

Chr1:156136070

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA016599

rs_397517886

3 SubmittersRCV000041305 RCV000236658 RCV002513581

NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)

SNV
Germline

Chr1:156136093

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2B1
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA016641

rs_397517889

14 SubmittersRCV000041308 RCV000223811 RCV000469099 RCV000592134 RCV003236576 RCV003343619 RCV004546422 RCV005402823

NM_170707.4(LMNA):c.1146C>T (p.Gly382=)

SNV
Germline

Chr1:156136110

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Neuromuscular disease
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA016690

rs_57508089

12 SubmittersRCV000041309 RCV000057239 RCV000468865 RCV000620488 RCV001775074

NM_170707.4(LMNA):c.1185G>A (p.Ser395=)

SNV
Germline

Chr1:156136241

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA016833

rs_397517890

4 SubmittersRCV000041311 RCV000725248 RCV000777976 RCV001441153

NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)

SNV
Germline

Chr1:156136257

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Primary dilated cardiomyopathy
not specified
11 conditions

Criteria Provided
Conflicting Classifications

CA016870

rs_61094188

20 SubmittersRCV000057258 RCV000157295 RCV000172002 RCV000528639 RCV000769728 RCV001172616 RCV002345327 RCV003996453 RCV004767033 RCV005042118

NM_170707.4(LMNA):c.154C>G (p.Leu52Val)

SNV
Germline

Chr1:156115072

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA017415

rs_397517895

1 SubmittersRCV000041321

NM_170707.4(LMNA):c.1566C>T (p.Cys522=)

SNV
Germline

Chr1:156137190

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Mandibuloacral dysplasia with type A lipodystrophy
Familial partial lipodystrophy, Dunnigan type
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017459

rs_149339264

19 SubmittersRCV000041322 RCV000233927 RCV000242680 RCV000262946 RCV000289458 RCV000340752 RCV000320484 RCV000380292 RCV000377490 RCV000399953 RCV000777760 RCV001093764 RCV001098994 RCV001172631 RCV001310873

NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)

SNV
Germline

Chr1:156137666

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Laminopathy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA017615

rs_56984562

13 SubmittersRCV000041325 RCV000057343 RCV000211786 RCV000242991 RCV000462793 RCV004786315 RCV006547559

NM_170707.4(LMNA):c.1656C>T (p.Asp552=)

SNV
Germline

Chr1:156137701

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
LMNA-related disorder
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017656

rs_370219874

14 SubmittersRCV000041326 RCV000619881 RCV000726458 RCV001088399 RCV001180815 RCV004734589 RCV003996457

NM_170707.4(LMNA):c.1751G>A (p.Arg584His)

SNV
Germline

Chr1:156138540

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
11 conditions
Familial partial lipodystrophy, Dunnigan type
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA020327

rs_56657623

11 SubmittersRCV000041330 RCV000057355 RCV001065506 RCV001184222 RCV002504919 RCV002467559 RCV003162351

NM_170707.4(LMNA):c.1773C>T (p.Cys591=)

SNV
Germline

Chr1:156138562

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA020366

rs_397517897

9 SubmittersRCV000041333 RCV000530060 RCV001184223 RCV002399397 RCV003996458

NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)

SNV
Germline

Chr1:156138593

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
LMNA-related disorder
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Conflicting Classifications

CA014839

rs_60662302

16 SubmittersRCV000041334 RCV000057361 RCV000148601 RCV000617798 RCV000771799 RCV001088263 RCV004541208 RCV004820827

NM_170707.4(LMNA):c.1851C>T (p.Ala617=)

SNV
Germline

Chr1:156138640

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA015217

rs_143189394

15 SubmittersRCV000041336 RCV000234314 RCV000769733 RCV001173409 RCV001701583 RCV002408539 RCV003996460

NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)

SNV
Germline

Chr1:156138701

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
LMNA-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA015346

rs_144851946

11 SubmittersRCV000041338 RCV000725381 RCV001084443 RCV001188113 RCV004541209 RCV005403744

NM_170707.4(LMNA):c.266G>A (p.Arg89His)

SNV
Germline

Chr1:156115184

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017833

rs_59040894

2 SubmittersRCV000041342 RCV005089375

NM_170707.4(LMNA):c.331G>C (p.Glu111Gln)

SNV
Germline

Chr1:156115249

Likely pathogenic

not specified
Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA017897

rs_61726475

2 SubmittersRCV000041343 RCV004786316

NM_170707.4(LMNA):c.357C>T (p.Arg119=)

SNV
Germline

Chr1:156130617

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy
Primary dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Hutchinson-Gilford syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA014926

rs_41313880

27 SubmittersRCV000041345 RCV000057395 RCV000148598 RCV000211467 RCV000249770 RCV000768710 RCV001081311 RCV001096444 RCV001096445 RCV001096446 RCV001096447 RCV001101878 RCV001101879 RCV001101881 RCV001096443 RCV001101880 RCV001173420 RCV004528231

NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)

SNV
Germline

Chr1:156115268

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Hypertrophic cardiomyopathy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Lethal tight skin contracture syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2B1
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Heart-hand syndrome, Slovenian type
Familial partial lipodystrophy, Dunnigan type

Criteria Provided
Conflicting Classifications

CA017949

rs_397517901

17 SubmittersRCV000041346 RCV000324940 RCV000653882 RCV000853426 RCV001007778 RCV001098094 RCV001098095 RCV001098092 RCV001098093 RCV001099881 RCV001099882 RCV001182267 RCV002336155 RCV003996462 RCV004558292 RCV005357279

NM_170707.4(LMNA):c.356G>C (p.Arg119Pro)

SNV
Germline

Chr1:156115274

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017961

rs_397517902

6 SubmittersRCV000041347 RCV000767136 RCV003581568 RCV006547560

NM_170707.4(LMNA):c.436G>A (p.Ala146Thr)

SNV
Germline

Chr1:156130696

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA018101

rs_397517903

2 SubmittersRCV000041348 RCV000206666

NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)

SNV
Germline

Chr1:156130708

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018114

rs_58917027

4 SubmittersRCV000041350 RCV000057407 RCV001265661 RCV001852841

NM_170707.4(LMNA):c.485T>C (p.Leu162Pro)

SNV
Germline

Chr1:156130745

Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided

No Assertion Criteria Provided

CA018144

rs_267607594

2 SubmittersRCV000041352 RCV000057410

NM_170707.4(LMNA):c.513+1G>C

SNV
Germline

Chr1:156130774

Likely pathogenic

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018184

rs_397517904

2 SubmittersRCV000041353 RCV002513582

NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)

SNV
Germline

Chr1:156134496

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
8 conditions
LMNA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA018291

rs_61195471

9 SubmittersRCV000055999 RCV000057427 RCV000211790 RCV000618699 RCV000653912 RCV001824588 RCV004724769

NM_170707.4(LMNA):c.629T>G (p.Ile210Ser)

SNV
Germline

Chr1:156134518

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA018335

rs_267607572

5 SubmittersRCV000041357 RCV000057435 RCV005364914 RCV006461277

NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)

SNV
Germline

Chr1:156134838

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018429

rs_60682848

13 SubmittersRCV000057442 RCV000056001 RCV000194831 RCV000211792 RCV000464494 RCV001170453 RCV002362662

NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)

SNV
Germline

Chr1:156134865

Pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018478

rs_267607573

6 SubmittersRCV000041360 RCV000057446 RCV000653900 RCV000618154 RCV003531940

NM_170707.4(LMNA):c.725C>T (p.Ala242Val)

SNV
Germline

Chr1:156134890

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
11 conditions

Criteria Provided
Conflicting Classifications

CA018498

rs_397517906

14 SubmittersRCV000041361 RCV000182361 RCV000157293 RCV000620828 RCV000770763 RCV000801882 RCV001258043 RCV001798224 RCV004698466 RCV005042120

NM_170707.4(LMNA):c.745C>G (p.Arg249Gly)

SNV
Germline

Chr1:156134910

Pathogenic/Likely pathogenic

Laminopathy
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA018552

rs_121912496

3 SubmittersRCV000041362 RCV000818791 RCV005638410

NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)

SNV
Germline

Chr1:156134949

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018633

rs_397517909

2 SubmittersRCV000041366 RCV003581570

NM_170707.4(LMNA):c.789G>A (p.Leu263=)

SNV
Germline

Chr1:156134954

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018646

rs_148557956

13 SubmittersRCV000041367 RCV000617711 RCV000723485 RCV001085667 RCV001178117 RCV003996465

NM_170707.4(LMNA):c.78C>T (p.Ile26=)

SNV
Germline

Chr1:156114996

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018652

rs_373721390

7 SubmittersRCV000041368 RCV000725413 RCV001079073 RCV001188883 RCV002415484

NM_170707.4(LMNA):c.799T>C (p.Tyr267His)

SNV
Germline

Chr1:156134964

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018657

rs_267607593

5 SubmittersRCV000041369 RCV000057461 RCV000617680 RCV002513583

NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)

SNV
Germline

Chr1:156135239

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA018775

rs_397517911

3 SubmittersRCV000041375 RCV005632207 RCV005089377

NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)

SNV
Germline

Chr1:156135244

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Myocarditis
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018785

rs_397517912

5 SubmittersRCV000041376 RCV000505709 RCV000692291 RCV002054813

NM_170707.4(LMNA):c.895A>G (p.Ile299Val)

SNV
Germline

Chr1:156135271

Conflicting classifications of pathogenicity

not specified
Familial partial lipodystrophy, Dunnigan type
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
LMNA-related disorder
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA014949

rs_150924946

13 SubmittersRCV000041378 RCV000148604 RCV000619864 RCV000726532 RCV000777745 RCV001086902 RCV001174244 RCV004734590 RCV004806042

NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)

SNV
Germline

Chr1:156135913

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
not specified
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype
LMNA-related disorder
Laminopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018878

rs_56816490

21 SubmittersRCV000041379 RCV000057489 RCV000560270 RCV000769726 RCV001000784 RCV001251293 RCV001775075 RCV002371856 RCV004541210 RCV006249573

NM_170707.4(LMNA):c.954G>A (p.Ala318=)

SNV
Germline

Chr1:156135918

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018888

rs_397517914

4 SubmittersRCV000041380 RCV001447601 RCV002225280 RCV003996466

NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)

SNV
Germline

Chr1:156135925

Pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Primary familial dilated cardiomyopathy
11 conditions
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018909

rs_267607554

11 SubmittersRCV000041382 RCV000057493 RCV000619789 RCV000686618 RCV002265579 RCV002483029 RCV005402824

NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)

SNV
Germline

Chr1:156135940

Conflicting classifications of pathogenicity

Condition: not provided
Primary familial hypertrophic cardiomyopathy
not specified
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Cardiomyopathy
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA018917

rs_56851164

17 SubmittersRCV000057494 RCV000208012 RCV000212504 RCV000544253 RCV000621488 RCV000755678 RCV001192112 RCV003996467 RCV005042121

NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)

SNV
Germline

Chr1:156135956

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
LMNA-related disorder
See cases

Criteria Provided
Conflicting Classifications

CA018936

rs_59301204

23 SubmittersRCV000182367 RCV000593819 RCV000769727 RCV001071970 RCV001265547 RCV002381325 RCV003235003 RCV003335073 RCV004797773

NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)

SNV
Germline

Chr1:156134809

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018372

rs_61295588

4 SubmittersRCV000056000 RCV000057438 RCV001382394 RCV002362688

NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)

SNV
Germline

Chr1:156135971

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA016433

rs_58105277

8 SubmittersRCV000057214 RCV000225878 RCV002426615 RCV002483086 RCV003996492 RCV006547573

NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys)

SNV
Germline

Chr1:156136003

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016456

rs_267607548

5 SubmittersRCV000057216 RCV001049424 RCV003996494 RCV004639132

NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)

SNV
Germline

Chr1:156136009

Pathogenic/Likely pathogenic

Condition: not provided
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2
Monogenic diabetes
6 conditions
11 conditions
Primary dilated cardiomyopathy
Laminopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA016479

rs_267607555

12 SubmittersRCV000057218 RCV000500548 RCV000653911 RCV000754811 RCV000845011 RCV002504959 RCV003996495 RCV004786332 RCV005348065

NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)

SNV
Germline

Chr1:156136010

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016488

rs_58789393

4 SubmittersRCV000057219 RCV001854172 RCV003343625

NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)

SNV
Germline

Chr1:156115022

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016503

rs_267607644

5 SubmittersRCV000057221 RCV000499410 RCV001231384

NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr1:156136027

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA016527

rs_267607617

3 SubmittersRCV000057223 RCV000233611 RCV003886373

NM_170707.4(LMNA):c.1069G>C (p.Asp357His)

SNV
Germline

Chr1:156136033

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA016542

rs_267607567

2 SubmittersRCV000057225 RCV001063774

NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)

SNV
Germline

Chr1:156136045

Pathogenic

Condition: not provided
Muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016566

rs_267607634

3 SubmittersRCV000057229 RCV000504480 RCV001218431

NM_170707.4(LMNA):c.1098G>A (p.Lys366=)

SNV
Germline

Chr1:156136062

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA016587

rs_57901307

11 SubmittersRCV000057231 RCV000500477 RCV001178173 RCV001437348 RCV002453371 RCV003996496

NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)

SNV
Germline

Chr1:156136094

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Congenital muscular dystrophy due to LMNA mutation
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA016657

rs_61672878

10 SubmittersRCV000057236 RCV001237945 RCV002321554 RCV003448256 RCV003996497

NM_170707.4(LMNA):c.1149G>A (p.Glu383=)

SNV
Germline

Chr1:156136113

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial partial lipodystrophy, Dunnigan type
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2B1

Criteria Provided
Conflicting Classifications

CA016698

rs_267607603

9 SubmittersRCV000057240 RCV000259097 RCV000289312 RCV000324542 RCV000355460 RCV000293812 RCV000298159 RCV000327855 RCV000377531 RCV000536971 RCV000619516 RCV000776145 RCV001098597 RCV001093854

NM_170707.4(LMNA):c.1157+1G>A

SNV
Germline

Chr1:156136122

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016716

rs_267607590

3 SubmittersRCV000057242 RCV000621430 RCV002513736

NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)

SNV
Germline

Chr1:156136121

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA016734

rs_267607545

5 SubmittersRCV000057243 RCV003581572 RCV004819190

NM_170707.4(LMNA):c.1158-2A>G

SNV
Germline

Chr1:156136212

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA016749

rs_267607636

2 SubmittersRCV000057245

NM_170707.4(LMNA):c.1163G>A (p.Arg388His)

SNV
Germline

Chr1:156136219

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016807

rs_267607576

5 SubmittersRCV000057251 RCV000805453 RCV001257936 RCV004018987

NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)

SNV
Germline

Chr1:156115034

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
LMNA-related disorder
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA016815

rs_57983345

8 SubmittersRCV000057252 RCV000557302 RCV004545742 RCV005252725

NM_170707.4(LMNA):c.11C>G (p.Pro4Arg)

SNV
Germline

Chr1:156114929

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA016863

rs_267607620

2 SubmittersRCV000057257 RCV000818990

NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)

SNV
Germline

Chr1:156136299

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
11 conditions
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016913

rs_267607606

9 SubmittersRCV000057260 RCV000534245 RCV000764982 RCV001191555 RCV002381362

NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)

SNV
Germline

Chr1:156136318

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
not specified
Cardiovascular phenotype
Primary dilated cardiomyopathy
Laminopathy

Criteria Provided
Conflicting Classifications

CA016923

rs_267607564

9 SubmittersRCV000057261 RCV000694118 RCV000772169 RCV002281901 RCV002444514 RCV003996501 RCV006249579

NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)

SNV
Germline

Chr1:156115045

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA016942

rs_60446065

4 SubmittersRCV000057262 RCV001225020

NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)

SNV
Germline

Chr1:156136350

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA016950

rs_267607618

7 SubmittersRCV000057263 RCV000216125 RCV000230676 RCV002381363 RCV005042174

NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)

SNV
Germline

Chr1:156136359

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Cardiomyopathy
Cardiovascular phenotype
11 conditions

Criteria Provided
Conflicting Classifications

CA014967

rs_150840924

13 SubmittersRCV000057265 RCV000148606 RCV000150953 RCV000653929 RCV001172619 RCV001524022 RCV002381364 RCV005042175

NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)

SNV
Germline

Chr1:156136371

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Familial partial lipodystrophy, Dunnigan type
LMNA-related disorder
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2B1

Criteria Provided
Conflicting Classifications

CA016991

rs_62636506

12 SubmittersRCV000057267 RCV001182564 RCV001225469 RCV002381365 RCV003326119 RCV004537256 RCV003996503 RCV004786333

NM_170707.4(LMNA):c.1337A>T (p.Asp446Val)

SNV
Germline

Chr1:156136393

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017008

rs_58541611

2 SubmittersRCV000057269 RCV001248144

NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp)

SNV
Germline

Chr1:156136402

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017024

rs_267607637

2 SubmittersRCV000057271 RCV000705578

NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)

SNV
Germline

Chr1:156115052

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA017029

rs_58436778

4 SubmittersRCV000057272 RCV000692072 RCV002468560

NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro)

SNV
Germline

Chr1:156136414

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA017039

rs_267607598

3 SubmittersRCV000057274 RCV002513737 RCV005867842

NM_170707.4(LMNA):c.1361T>C (p.Leu454Pro)

SNV
Germline

Chr1:156136417

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017048

rs_267607638

2 SubmittersRCV000057275 RCV003581573

NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro)

SNV
Germline

Chr1:156136420

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017066

rs_267607597

2 SubmittersRCV000057276 RCV002514281

NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp)

SNV
Germline

Chr1:156136422

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017074

rs_267607599

5 SubmittersRCV000057277 RCV000465598

NM_170707.4(LMNA):c.1368C>A (p.Asn456Lys)

SNV
Germline

Chr1:156136424

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA017098

rs_61235244

2 SubmittersRCV000057279

NM_170707.4(LMNA):c.136A>G (p.Ile46Val)

SNV
Germline

Chr1:156115054

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017105

rs_267607615

3 SubmittersRCV000057281 RCV001230439

NM_170707.4(LMNA):c.1380+1G>A

SNV
Germline

Chr1:156136437

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
8 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017128

rs_267607552

5 SubmittersRCV000057283 RCV000697969 RCV001535753 RCV002381366

NM_170707.4(LMNA):c.1399T>C (p.Trp467Arg)

SNV
Germline

Chr1:156136939

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA017177

rs_267607639

2 SubmittersRCV000057289

NM_170707.4(LMNA):c.139G>C (p.Asp47His)

SNV
Germline

Chr1:156115057

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017185

rs_267607608

2 SubmittersRCV000057290 RCV001319873

NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)

SNV
Germline

Chr1:156136951

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Familial partial lipodystrophy, Dunnigan type

Criteria Provided
Conflicting Classifications

CA017206

rs_28928902

5 SubmittersRCV000057292 RCV002390204 RCV002514282 RCV004783737

NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn)

SNV
Germline

Chr1:156136998

Pathogenic

Familial partial lipodystrophy, Dunnigan type
Condition: not provided

Criteria Provided
Single Submitter

CA017283

rs_59981161

2 SubmittersRCV000193901 RCV000057302

NM_170707.4(LMNA):c.1488+1G>A

SNV
Germline

Chr1:156137029

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017312

rs_267607640

4 SubmittersRCV000057305 RCV003298103 RCV003581574

NM_170707.4(LMNA):c.1488+5G>C

SNV
Germline

Chr1:156137033

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017326

rs_267607543

4 SubmittersRCV000015610 RCV000057307 RCV003581575

NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys)

SNV
Germline

Chr1:156137118

Likely pathogenic

Condition: not provided
Primary familial dilated cardiomyopathy

Criteria Provided
Single Submitter

CA017364

rs_57730570

2 SubmittersRCV000057312 RCV000624578

NM_170707.4(LMNA):c.149G>C (p.Arg50Pro)

SNV
Germline

Chr1:156115067

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA017377

rs_60695352

2 SubmittersRCV000057314

NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)

SNV
Germline

Chr1:156137207

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017504

rs_57629361

7 SubmittersRCV000057328 RCV000201062 RCV000986432 RCV001045262

NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)

SNV
Germline

Chr1:156137207

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Familial partial lipodystrophy, Dunnigan type
Abnormality of the musculature
Congenital muscular dystrophy due to LMNA mutation
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017510

rs_57629361

9 SubmittersRCV000057329 RCV000472329 RCV000499741 RCV001814041 RCV003483458 RCV006342097

NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)

SNV
Germline

Chr1:156137207

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017516

rs_57629361

8 SubmittersRCV000057330 RCV001182566 RCV003996505 RCV004018988 RCV005089468

NM_170707.4(LMNA):c.1608+1G>A

SNV
Germline

Chr1:156137233

Pathogenic

Condition: not provided
Neuromuscular disease
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
11 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017556

rs_267607592

7 SubmittersRCV000057335 RCV000150954 RCV000693979 RCV001196083 RCV002490641 RCV004629146

NM_170707.4(LMNA):c.1608+5G>C

SNV
Germline

Chr1:156137237

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA017561

rs_267607539

5 SubmittersRCV000015589 RCV000057336 RCV002390205

NM_170707.4(LMNA):c.1609-12T>G

SNV
Germline

Chr1:156137642

Likely pathogenic

Heart-hand syndrome, Slovenian type
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA017567

rs_267607582

3 SubmittersRCV000015618 RCV000057337 RCV005250008

NM_170707.4(LMNA):c.1609-3C>G

SNV
Germline

Chr1:156137651

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
LMNA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA017576

rs_267607581

9 SubmittersRCV000057338 RCV000154514 RCV000503283 RCV001174242 RCV001854174 RCV002390206 RCV004537257

NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)

SNV
Germline

Chr1:156137664

Pathogenic

Condition: not provided
Hutchinson-Gilford syndrome

Criteria Provided
Single Submitter

CA017588

rs_267607547

3 SubmittersRCV000057340 RCV000192012

NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser)

SNV
Germline

Chr1:156137666

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA017601

rs_56984562

3 SubmittersRCV000057341 RCV000823221 RCV004017361

NM_170707.4(LMNA):c.1622G>A (p.Arg541His)

SNV
Germline

Chr1:156137667

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
LMNA-related disorder
Congenital muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA017621

rs_61444459

16 SubmittersRCV000057344 RCV000221013 RCV000230467 RCV000246865 RCV001262710 RCV001836636 RCV003335086 RCV004018989 RCV005252726

NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)

SNV
Germline

Chr1:156137667

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA017630

rs_61444459

4 SubmittersRCV000057345 RCV005089469

NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)

SNV
Germline

Chr1:156137678

Conflicting classifications of pathogenicity

Condition: not provided
Primary familial hypertrophic cardiomyopathy
not specified
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease
Cardiomyopathy
Monogenic diabetes
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Criteria Provided
Conflicting Classifications

CA017642

rs_267607613

15 SubmittersRCV000057347 RCV000208352 RCV000454519 RCV000785171 RCV000812762 RCV001004948 RCV001174246 RCV001185752 RCV001174410 RCV003996506 RCV005409612

NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)

SNV
Germline

Chr1:156138537

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
11 conditions
Familial partial lipodystrophy, Dunnigan type
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA020320

rs_59601651

10 SubmittersRCV000057354 RCV000618100 RCV000653858 RCV001182287 RCV002504960 RCV003333022 RCV003996507

NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)

SNV
Germline

Chr1:156115102

Pathogenic

Condition: not provided
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017741

rs_56793579

5 SubmittersRCV000057365 RCV000503031 RCV001051802

NM_170707.4(LMNA):c.1968+1G>A

SNV
Germline

Chr1:156138758

Pathogenic

Hutchinson-Gilford syndrome
Condition: not provided
Restrictive dermopathy 2

No Assertion Criteria Provided

CA015209

rs_113436208

3 SubmittersRCV000015607 RCV000057377 RCV001847645

NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)

SNV
Germline

Chr1:156115162

Pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017794

rs_59270054

5 SubmittersRCV000057380 RCV000156060 RCV000457442 RCV005589774

NM_170707.4(LMNA):c.265C>T (p.Arg89Cys)

SNV
Germline

Chr1:156115183

Likely pathogenic

Condition: not provided
Heart-hand syndrome, Slovenian type

No Assertion Criteria Provided

CA017826

rs_267607559

2 SubmittersRCV000057382 RCV004767053

NM_170707.4(LMNA):c.266G>T (p.Arg89Leu)

SNV
Germline

Chr1:156115184

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017839

rs_59040894

3 SubmittersRCV000057383 RCV000462640 RCV005364950

NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)

SNV
Germline

Chr1:156115192

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017846

rs_267607560

5 SubmittersRCV000057384 RCV002433553 RCV006461342

NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)

SNV
Germline

Chr1:156114947

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Familial partial lipodystrophy, Dunnigan type
Lipodystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA017867

rs_57077886

6 SubmittersRCV000015599 RCV000057387 RCV000502816 RCV000755005 RCV000622546

NM_170707.4(LMNA):c.357-1G>T

SNV
Germline

Chr1:156130616

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017975

rs_267607569

2 SubmittersRCV000057393 RCV001387325

NM_170707.4(LMNA):c.412G>A (p.Glu138Lys)

SNV
Germline

Chr1:156130672

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA018066

rs_267607649

2 SubmittersRCV000057401

NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)

SNV
Germline

Chr1:156130679

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018070

rs_60652225

2 SubmittersRCV000057402 RCV001854176

NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)

SNV
Germline

Chr1:156130687

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018081

rs_61661343

5 SubmittersRCV000057404 RCV001258042 RCV001387327 RCV003996511

NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)

SNV
Germline

Chr1:156130757

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018166

rs_267607570

6 SubmittersRCV000057411 RCV000503619 RCV000620401 RCV000556738 RCV003993783

NM_170707.4(LMNA):c.513G>A (p.Lys171=)

SNV
Germline

Chr1:156130773

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018192

rs_267607542

2 SubmittersRCV000057412 RCV001231297

NM_170707.4(LMNA):c.514-1G>A

SNV
Germline

Chr1:156134402

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA018199

rs_267607589

2 SubmittersRCV000057413 RCV004786334

NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)

SNV
Germline

Chr1:156134457

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1S
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy
LMNA-related disorder
Dilated cardiomyopathy 1A
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA018245

rs_59026483

17 SubmittersRCV000057419 RCV000491585 RCV000535082 RCV000619878 RCV003996512 RCV004528262 RCV005862962 RCV005862963

NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)

SNV
Germline

Chr1:156134458

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA018251

rs_267607571

16 SubmittersRCV000057421 RCV000619042 RCV000653887 RCV000768712 RCV001449792 RCV003447483

NM_170707.4(LMNA):c.575A>T (p.Asp192Val)

SNV
Unknown

Chr1:156134464

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA018263

rs_57045855

2 SubmittersRCV000057423 RCV003152678

NM_170707.4(LMNA):c.608A>T (p.Glu203Val)

SNV
Germline

Chr1:156134497

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018303

rs_28933092

3 SubmittersRCV000057429 RCV002513739 RCV004799772

NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)

SNV
Germline

Chr1:156134507

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018318

rs_267607629

6 SubmittersRCV000057431 RCV000694277 RCV002354249

NM_170707.4(LMNA):c.640-10A>G

SNV
Germline

Chr1:156134795

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018347

rs_80356807

7 SubmittersRCV000057437 RCV001029824 RCV001221904 RCV002362690

NM_170707.4(LMNA):c.656A>C (p.Lys219Thr)

SNV
Germline

Chr1:156134821

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018400

rs_267607584

3 SubmittersRCV000057439 RCV005089470

NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)

SNV
Germline

Chr1:156134859

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
7 conditions

Criteria Provided
Single Submitter

CA018465

rs_267607609

3 SubmittersRCV000057444 RCV001038356 RCV001535783

NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)

SNV
Germline

Chr1:156134860

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018472

rs_57207746

3 SubmittersRCV000057445 RCV000201054 RCV001052813

NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)

SNV
Germline

Chr1:156134901

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018512

rs_267607587

4 SubmittersRCV000057448 RCV001854177

NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)

SNV
Germline

Chr1:156114991

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA018531

rs_58327533

6 SubmittersRCV000057449 RCV001048135 RCV002381367 RCV005409613

NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)

SNV
Germline

Chr1:156114991

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA018538

rs_58327533

4 SubmittersRCV000057450 RCV001049614 RCV002381368 RCV005001985

NM_170707.4(LMNA):c.743T>C (p.Leu248Pro)

SNV
Germline

Chr1:156134908

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018545

rs_58850446

3 SubmittersRCV000057451 RCV002381369

NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)

SNV
Germline

Chr1:156134911

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Muscular dystrophy
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2B1
Abnormality of the musculature
Cardiomyopathy
Congenital muscular dystrophy
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA018567

rs_59332535

19 SubmittersRCV000057453 RCV000201012 RCV000501991 RCV000496185 RCV000548477 RCV000662104 RCV001814042 RCV003230389 RCV004018991 RCV004795993

NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)

SNV
Germline

Chr1:156114992

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018579

rs_61578124

2 SubmittersRCV000057454 RCV002513740

NM_170707.4(LMNA):c.775T>C (p.Tyr259His)

SNV
Germline

Chr1:156134940

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA018600

rs_60578328

2 SubmittersRCV000057455 RCV005621866

NM_170707.4(LMNA):c.810+1G>A

SNV
Germline

Chr1:156134976

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018696

rs_267607632

2 SubmittersRCV000057465 RCV000477527

NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)

SNV
Germline

Chr1:156115000

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018743

rs_59914820

3 SubmittersRCV000057473 RCV000653924 RCV006342098

NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)

SNV
Germline

Chr1:156135274

Pathogenic/Likely pathogenic

Condition: not provided
Lipodystrophy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Cardiomyopathy
Hutchinson-Gilford syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA018826

rs_267607591

6 SubmittersRCV000057481 RCV000146262 RCV001234965 RCV003227631 RCV006547576 RCV005411317

NM_170707.4(LMNA):c.937-11C>G

SNV
Germline

Chr1:156135890

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018858

rs_267607645

2 SubmittersRCV000057486 RCV001854178

NM_170707.4(LMNA):c.937-7C>G

SNV
Germline

Chr1:156135894

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Primary dilated cardiomyopathy
11 conditions
Dilated cardiomyopathy 1A

Criteria Provided
Conflicting Classifications

CA018867

rs_267607681

14 SubmittersRCV000057488 RCV000440584 RCV000530832 RCV000772012 RCV001172638 RCV003996513 RCV005042176 RCV004786335

NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)

SNV
Germline

Chr1:156135916

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018883

rs_267607574

9 SubmittersRCV000057491 RCV000852590 RCV001182567 RCV001303998 RCV002371900

NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)

SNV
Germline

Chr1:156115016

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018931

rs_267607614

2 SubmittersRCV000057495 RCV002513742

NM_170707.4(LMNA):c.992G>C (p.Arg331Pro)

SNV
Germline

Chr1:156135956

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018942

rs_59301204

3 SubmittersRCV000057496 RCV003581578

NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)

SNV
Germline

Chr1:156115017

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA018946

rs_57966821

3 SubmittersRCV000057497

NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)

SNV
Germline

Chr1:156115017

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA018951

rs_57966821

4 SubmittersRCV000057498 RCV000790002 RCV001854179

NM_170707.4(LMNA):c.148C>T (p.Arg50Cys)

SNV
Germline

Chr1:156115066

Conflicting classifications of pathogenicity

Condition: not provided
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Conflicting Classifications

CA017346

rs_59931416

2 SubmittersRCV000081302 RCV003987355

NM_170707.4(LMNA):c.1620G>A (p.Met540Ile)

SNV
Germline

Chr1:156137665

Pathogenic

Mandibuloacral dysplasia with type A lipodystrophy

Criteria Provided
Single Submitter

CA017595

rs_483352811

1 SubmittersRCV000087081

NM_170707.4(LMNA):c.1931G>A (p.Arg644His)

SNV
Germline

Chr1:156138720

Conflicting classifications of pathogenicity

Congenital muscular dystrophy
not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
11 conditions

Criteria Provided
Conflicting Classifications

CA014889

rs_368386019

12 SubmittersRCV000148599 RCV000182377 RCV000245708 RCV000725647 RCV000769735 RCV001079490 RCV001330501 RCV005042289

NM_170707.4(LMNA):c.1968G>A (p.Gln656=)

SNV
Germline

Chr1:156138757

Pathogenic

Hutchinson-Gilford progeria syndrome, atypical
Hutchinson-Gilford syndrome

No Assertion Criteria Provided

CA347058

rs_797044487

2 SubmittersRCV000190822 RCV000192015

NM_170707.4(LMNA):c.1968+5G>A

SNV
Germline

Chr1:156138762

Conflicting classifications of pathogenicity

Hutchinson-Gilford syndrome
Hutchinson-Gilford progeria syndrome, atypical
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA347068

rs_797044488

5 SubmittersRCV000192020 RCV000190823 RCV006461630

NM_170707.4(LMNA):c.178C>T (p.Arg60Cys)

SNV
Germline

Chr1:156115096

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017729

rs_28928900

5 SubmittersRCV000156772 RCV000768709 RCV001206073 RCV004786415 RCV005659859

NM_170707.4(LMNA):c.640-11A>C

SNV
Germline

Chr1:156134794

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018353

rs_727504932

4 SubmittersRCV000156325 RCV001186918 RCV002056124 RCV003998309

NM_170707.4(LMNA):c.1122C>T (p.His374=)

SNV
Germline

Chr1:156136086

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA016632

rs_143715750

5 SubmittersRCV000150949 RCV000242405 RCV000725445 RCV001046037 RCV001182014

NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)

SNV
Germline

Chr1:156136432

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA017121

rs_372011095

10 SubmittersRCV000154750 RCV000726125 RCV000824275 RCV001179779 RCV002381491 RCV003998270 RCV005042303

NM_170707.4(LMNA):c.1609-1G>A

SNV
Germline

Chr1:156137653

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017570

rs_111569862

4 SubmittersRCV000156608 RCV000182373 RCV001850165

NM_170707.4(LMNA):c.215G>T (p.Arg72Leu)

SNV
Germline

Chr1:156115133

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017782

rs_727504340

3 SubmittersRCV000154457 RCV001059604 RCV002426738

NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)

SNV
Germline

Chr1:156130757

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018161

rs_267607570

9 SubmittersRCV000150939 RCV000653861 RCV000732765 RCV000771896 RCV002336298 RCV002505147 RCV003998206

NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)

SNV
Germline

Chr1:156134851

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018453

rs_727505357

9 SubmittersRCV000156919 RCV000538272 RCV001525549 RCV003152686 RCV003998328 RCV006257278 RCV006342131 RCV005429225

NM_170707.4(LMNA):c.1158-3C>T

SNV
Germline

Chr1:156136211

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA016764

rs_727503136

3 SubmittersRCV000150951 RCV003998207 RCV005055621

NM_170707.4(LMNA):c.1488+14C>T

SNV
Germline

Chr1:156137042

Conflicting classifications of pathogenicity

not specified
Familial partial lipodystrophy, Dunnigan type
Mandibuloacral dysplasia with type A lipodystrophy
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2B1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA017307

rs_377700689

11 SubmittersRCV000154749 RCV001097151 RCV001098889 RCV001098891 RCV001097148 RCV001097149 RCV001097150 RCV001097152 RCV001098890 RCV001098892 RCV001098893 RCV001173408 RCV001795278 RCV001850119 RCV003162630 RCV004734724

NM_170707.4(LMNA):c.1634G>A (p.Arg545His)

SNV
Germline

Chr1:156137679

Conflicting classifications of pathogenicity

not specified
Peripheral neuropathy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1S
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Hutchinson-Gilford syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Charcot-Marie-Tooth disease type 2B1
Lipodystrophy
7 conditions
Autosomal semi-dominant severe lipodystrophic laminopathy
Primary dilated cardiomyopathy
LMNA-related disorder
6 conditions
11 conditions

Criteria Provided
Conflicting Classifications

CA017649

rs_142191737

29 SubmittersRCV000150955 RCV000449630 RCV000468904 RCV000491650 RCV000505801 RCV000621850 RCV000771819 RCV001101061 RCV001100810 RCV001101055 RCV001101062 RCV001101057 RCV001101058 RCV001101059 RCV001101060 RCV001248958 RCV001781492 RCV003993830 RCV003998208 RCV004532675 RCV005359320 RCV005042294

NM_170707.4(LMNA):c.1699-8C>G

SNV
Germline

Chr1:156138480

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA020283

rs_727503137

8 SubmittersRCV000150956 RCV000769731 RCV000876929 RCV001173401 RCV001775636 RCV004639144

NM_170707.4(LMNA):c.917T>G (p.Leu306Arg)

SNV
Germline

Chr1:156135293

Pathogenic

Right ventricular cardiomyopathy
Hutchinson-Gilford progeria syndrome, childhood-onset

No Assertion Criteria Provided

CA018851

rs_730882262

1 SubmittersRCV000162192

NM_170707.4(LMNA):c.1017G>A (p.Ala339=)

SNV
Germline

Chr1:156135981

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA016439

rs_17847242

18 SubmittersRCV000172001 RCV000244350 RCV000276961 RCV000771177 RCV001086138 RCV001172634 RCV004535167

NM_170707.4(LMNA):c.643C>T (p.Leu215=)

SNV
Germline

Chr1:156134808

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018363

rs_397517905

6 SubmittersRCV000585450 RCV001804907 RCV001429120 RCV002362912 RCV003996573

NM_170707.4(LMNA):c.1551G>A (p.Gln517=)

SNV
Germline

Chr1:156137175

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017421

rs_41314035

21 SubmittersRCV000223139 RCV000231059 RCV000259331 RCV000331994 RCV000309672 RCV000363237 RCV000373945 RCV000392082 RCV000392077 RCV000589163 RCV000620476 RCV000771258 RCV001100975 RCV001093871 RCV001172636 RCV003996588

NM_170707.4(LMNA):c.3G>T (p.Met1Ile)

SNV
Germline

Chr1:156114921

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018051

rs_794728598

3 SubmittersRCV000182378 RCV002515313

NM_170707.4(LMNA):c.179G>C (p.Arg60Pro)

SNV
Germline

Chr1:156115097

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA017735

rs_794728601

2 SubmittersRCV000182381 RCV004526630

NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)

SNV
Germline

Chr1:156115168

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
11 conditions

Criteria Provided
Conflicting Classifications

CA017800

rs_794728602

4 SubmittersRCV000621704 RCV000758164 RCV003581582 RCV005042397

NM_170707.4(LMNA):c.252G>C (p.Glu84Asp)

SNV
Germline

Chr1:156115170

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017807

rs_794728586

2 SubmittersRCV000182351 RCV001852311

NM_170707.4(LMNA):c.344A>T (p.Glu115Val)

SNV
Germline

Chr1:156115262

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2
Peripheral neuropathy
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017931

rs_794728588

6 SubmittersRCV000182354 RCV000223737 RCV000707542 RCV000852405 RCV004786499 RCV004992062

NM_170707.4(LMNA):c.356+1G>A

SNV
Germline

Chr1:156115275

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017954

rs_794728589

3 SubmittersRCV000182355 RCV000689313 RCV005404350

NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)

SNV
Germline

Chr1:156130658

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2B1
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Cardiomyopathy
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Primary dilated cardiomyopathy
LMNA-related disorder
11 conditions

Criteria Provided
Conflicting Classifications

CA018032

rs_60864230

13 SubmittersRCV000182356 RCV000204542 RCV001096449 RCV001098187 RCV001098189 RCV001098184 RCV001098185 RCV001096448 RCV001098186 RCV001098188 RCV001191911 RCV001098190 RCV001098191 RCV002372114 RCV003996714 RCV004734805 RCV005042395

NM_170707.4(LMNA):c.471G>A (p.Thr157=)

SNV
Germline

Chr1:156130731

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Mandibuloacral dysplasia with type A lipodystrophy
Familial partial lipodystrophy, Dunnigan type
Congenital muscular dystrophy due to LMNA mutation
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease type 2B1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018129

rs_150645079

15 SubmittersRCV000182358 RCV000727266 RCV000778038 RCV001081191 RCV001099967 RCV001099969 RCV001101973 RCV001099963 RCV001099964 RCV001099965 RCV001101971 RCV001099966 RCV001099968 RCV001101972 RCV002336452

NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)

SNV
Germline

Chr1:156134811

Conflicting classifications of pathogenicity

Laminopathy
Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Condition: not provided
Primary familial dilated cardiomyopathy
Atrioventricular block

Criteria Provided
Conflicting Classifications

CA018379

rs_794728591

14 SubmittersRCV000182360 RCV000208531 RCV000241819 RCV000528116 RCV000725540 RCV001778774 RCV004786500

NM_170707.4(LMNA):c.647G>A (p.Arg216His)

SNV
Germline

Chr1:156134812

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease
Dilated cardiomyopathy 1A
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
Ventricular tachycardia
12 conditions

Criteria Provided
Conflicting Classifications

CA018387

rs_757041809

16 SubmittersRCV000474813 RCV000732408 RCV000778039 RCV001172621 RCV001775091 RCV002354479 RCV002478615 RCV003996718 RCV005245490 RCV005208128

NM_170707.4(LMNA):c.768G>A (p.Val256=)

SNV
Germline

Chr1:156134933

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Cardiovascular phenotype
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA018593

rs_794728593

6 SubmittersRCV000182364 RCV000219229 RCV000806148 RCV001199263 RCV002399655 RCV005042396

NM_170707.4(LMNA):c.871G>A (p.Glu291Lys)

SNV
Germline

Chr1:156135247

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA018791

rs_794728594

2 SubmittersRCV000182365 RCV004786501

NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)

SNV
Germline

Chr1:156136021

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Neuronopathy, distal hereditary motor, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA016519

rs_267607623

5 SubmittersRCV000182362 RCV000229718 RCV000247014 RCV000790003

NM_170707.4(LMNA):c.1157+6C>G

SNV
Germline

Chr1:156136127

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016725

rs_374768416

5 SubmittersRCV000182348 RCV000821919 RCV001182769 RCV003996713 RCV005404349

NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)

SNV
Germline

Chr1:156136941

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017193

rs_794728613

4 SubmittersRCV000182396 RCV001775092 RCV001852314

NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter)

SNV
Germline

Chr1:156137184

Pathogenic

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017446

rs_794728595

3 SubmittersRCV000182370 RCV002399656 RCV006461814

NM_170707.4(LMNA):c.1562G>T (p.Gly521Val)

SNV
Germline

Chr1:156137186

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA017452

rs_794728596

1 SubmittersRCV000182371

NM_005572.4(LMNA):c.1712G>A (p.Arg571His)

SNV
Germline

Chr1:156137757

Conflicting classifications of pathogenicity

Monogenic diabetes
Cardiomyopathy
Long QT syndrome
Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA017707

rs_200917748

12 SubmittersRCV000664076 RCV000778037 RCV000852591 RCV001701632 RCV001852310 RCV002464010 RCV004020193 RCV000182349

NM_005572.4(LMNA):c.1714C>T (p.Arg572Cys)

SNV
Germline

Chr1:156137759

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017711

rs_773169005

4 SubmittersRCV000726056 RCV001182259 RCV001394831

NM_170707.4(LMNA):c.936+2T>C

SNV
Germline

Chr1:156135314

Conflicting classifications of pathogenicity

Hutchinson-Gilford syndrome
Cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA275974

rs_797045011

4 SubmittersRCV000986430 RCV001798660 RCV003165426 RCV003743622

NM_170707.4(LMNA):c.810+1G>C

SNV
Germline

Chr1:156134976

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Single Submitter

CA277528

rs_267607632

1 SubmittersRCV000199480

NM_170707.4(LMNA):c.899A>G (p.Asp300Gly)

SNV
Germline

Chr1:156135275

Pathogenic

Hutchinson-Gilford progeria syndrome, atypical

No Assertion Criteria Provided

CA10575804

rs_79907212

1 SubmittersRCV000201431

NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)

SNV
Germline

Chr1:156136284

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Hypertrophic cardiomyopathy 1
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602394

rs_1057515421

3 SubmittersRCV000408652 RCV001256761 RCV001798692

NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)

SNV
Germline

Chr1:156130708

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA088193

rs_58917027

7 SubmittersRCV000208276 RCV000536399 RCV000611547 RCV002327072 RCV006259209 RCV006277749

NM_170707.4(LMNA):c.937-8C>A

SNV
Germline

Chr1:156135893

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Lethal tight skin contracture syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA054885

rs_751707982

7 SubmittersRCV000207998 RCV000545586 RCV000777940 RCV001096749 RCV001096751 RCV001098487 RCV001096746 RCV001096747 RCV001096748 RCV001098486 RCV001096750 RCV001096752 RCV001098488 RCV001697242 RCV005893800

NM_170707.4(LMNA):c.82C>G (p.Arg28Gly)

SNV
Germline

Chr1:156115000

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA358140

rs_59914820

1 SubmittersRCV000210645

NM_170707.4(LMNA):c.346C>T (p.Leu116=)

SNV
Germline

Chr1:156115264

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10576363

rs_876657491

6 SubmittersRCV000213438 RCV000771953 RCV000904865 RCV002336594 RCV003997707

NM_170707.4(LMNA):c.356+1G>C

SNV
Germline

Chr1:156115275

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10576364

rs_794728589

2 SubmittersRCV000218409 RCV000592631

NM_170707.4(LMNA):c.449C>T (p.Thr150Ile)

SNV
Germline

Chr1:156130709

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10576365

rs_869069617

6 SubmittersRCV000220590 RCV003319335 RCV003486773 RCV004020622 RCV006462114

NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu)

SNV
Germline

Chr1:156136074

Likely pathogenic

Laminopathy

Criteria Provided
Single Submitter

CA10576367

rs_876657649

1 SubmittersRCV000223064

NM_170707.4(LMNA):c.1488+8G>A

SNV
Germline

Chr1:156137036

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA050369

rs_762836610

6 SubmittersRCV000220172 RCV000725758 RCV001088656 RCV001173413 RCV002390573

NM_170707.4(LMNA):c.1381-6C>T

SNV
Germline

Chr1:156136915

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050164

rs_371635492

7 SubmittersRCV000215844 RCV000416195 RCV001180052 RCV001087904 RCV003997704

NM_170707.4(LMNA):c.949G>T (p.Glu317Ter)

SNV
Germline

Chr1:156135913

Pathogenic

Condition: not provided

No Assertion Criteria Provided

CA10581125

rs_56816490

1 SubmittersRCV000223858

NM_170707.4(LMNA):c.254T>A (p.Leu85His)

SNV
Germline

Chr1:156115172

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA10581727

rs_28933090

1 SubmittersRCV000225805

NM_170707.4(LMNA):c.928C>T (p.Gln310Ter)

SNV
Germline

Chr1:156135304

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10581728

rs_878855234

2 SubmittersRCV000230197 RCV004806266

NM_170707.4(LMNA):c.1090G>A (p.Asp364Asn)

SNV
Germline

Chr1:156136054

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10581729

rs_878855231

3 SubmittersRCV000227450 RCV000313924 RCV003165656

NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)

SNV
Germline

Chr1:156136311

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
11 conditions
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049655

rs_755686359

6 SubmittersRCV000227837 RCV000597022 RCV001184022 RCV002479935 RCV004020899 RCV003998891

NM_170707.4(LMNA):c.3G>C (p.Met1Ile)

SNV
Germline

Chr1:156114921

Pathogenic

Condition: not provided
not specified

Criteria Provided
Single Submitter

CA10584109

rs_794728598

2 SubmittersRCV000236357 RCV000678713

NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)

SNV
Germline

Chr1:156114992

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA054268

rs_61578124

7 SubmittersRCV000236179 RCV001079756 RCV001182288 RCV002392726 RCV003998902 RCV005044491

NM_170707.4(LMNA):c.224C>T (p.Ser75Phe)

SNV
Germline

Chr1:156115142

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584113

rs_879253975

2 SubmittersRCV000236603 RCV002518434

NM_170707.4(LMNA):c.242A>G (p.Tyr81Cys)

SNV
Germline

Chr1:156115160

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584114

rs_879254319

2 SubmittersRCV000237077 RCV001351546

NM_170707.4(LMNA):c.443T>C (p.Leu148Pro)

SNV
Germline

Chr1:156130703

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10584118

rs_879253929

1 SubmittersRCV000236939

NM_170707.4(LMNA):c.513+1G>A

SNV
Germline

Chr1:156130774

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10584120

rs_397517904

3 SubmittersRCV000235237 RCV001379216 RCV004020919

NM_170707.4(LMNA):c.917T>C (p.Leu306Pro)

SNV
Germline

Chr1:156135293

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10584123

rs_730882262

2 SubmittersRCV000235583 RCV000500335

NM_170707.4(LMNA):c.991C>T (p.Arg331Trp)

SNV
Germline

Chr1:156135955

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Restrictive dermopathy 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10584124

rs_879253898

7 SubmittersRCV000236116 RCV001176603 RCV001857795 RCV002379039 RCV003227732 RCV003998898

NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)

SNV
Germline

Chr1:156135968

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dehydrated hereditary stomatocytosis 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA048759

rs_138592977

12 SubmittersRCV000727308 RCV000771975 RCV001174248 RCV000653901 RCV002401922 RCV005863071 RCV003998912

NM_170707.4(LMNA):c.1081G>C (p.Glu361Gln)

SNV
Germline

Chr1:156136045

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584125

rs_267607634

2 SubmittersRCV000236290 RCV001208634

NM_170707.4(LMNA):c.1157+1G>T

SNV
Germline

Chr1:156136122

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10584128

rs_267607590

2 SubmittersRCV000236305 RCV001857811

NM_170707.4(LMNA):c.1160T>C (p.Leu387Pro)

SNV
Germline

Chr1:156136216

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584130

rs_879253934

2 SubmittersRCV000235338 RCV000653922

NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)

SNV
Germline

Chr1:156137027

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
11 conditions
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Hutchinson-Gilford syndrome
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA050321

rs_200466188

16 SubmittersRCV000235878 RCV000653862 RCV000681642 RCV001098789 RCV001100613 RCV001100618 RCV001100620 RCV001100614 RCV001100615 RCV001100616 RCV001100617 RCV001100889 RCV001180056 RCV001100619 RCV002392729 RCV002494678 RCV003998908 RCV005890962

NM_170707.4(LMNA):c.1489-2A>G

SNV
Germline

Chr1:156137111

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10584131

rs_879254081

3 SubmittersRCV000236890 RCV002392730 RCV002518441

NM_170707.4(LMNA):c.1540T>C (p.Trp514Arg)

SNV
Germline

Chr1:156137164

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10584133

rs_879254082

1 SubmittersRCV000235628

NM_170707.4(LMNA):c.1609-8C>G

SNV
Germline

Chr1:156137646

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA10584134

rs_879253917

3 SubmittersRCV000235897 RCV002518429 RCV005890957

NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)

SNV
Germline

Chr1:156139089

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA051914

rs_374926367

11 SubmittersRCV000727363 RCV001079513 RCV001184766 RCV002418036 RCV005044490 RCV003998896 RCV006263794

NM_170707.4(LMNA):c.111G>A (p.Glu37=)

SNV
Germline

Chr1:156115029

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10587413

rs_886038906

6 SubmittersRCV000247889 RCV000726524 RCV003532072 RCV003999033 RCV006462262

NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter)

SNV
Germline

Chr1:156137190

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA10587415

rs_149339264

1 SubmittersRCV000250959

NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr)

SNV
Germline

Chr1:156136121

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA10587419

rs_267607545

1 SubmittersRCV000248263

NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly)

SNV
Germline

Chr1:156136037

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 9

No Assertion Criteria Provided

CA342820319

rs_1114167345

1 SubmittersRCV000491922

NM_170707.4(LMNA):c.149G>T (p.Arg50Leu)

SNV
Germline

Chr1:156115067

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10603912

rs_60695352

3 SubmittersRCV000364250 RCV001044757

NM_170707.4(LMNA):c.726G>A (p.Ala242=)

SNV
Germline

Chr1:156134891

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054216

rs_763625309

8 SubmittersRCV000345591 RCV000780388 RCV001088674 RCV001525715 RCV002379110 RCV003995754

NM_170707.4(LMNA):c.192C>T (p.Thr64=)

SNV
Germline

Chr1:156115110

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051973

rs_137969290

8 SubmittersRCV000348112 RCV000725140 RCV001087778 RCV001183039 RCV002411149 RCV003995762

NM_170707.4(LMNA):c.1051A>C (p.Arg351=)

SNV
Germline

Chr1:156136015

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA048878

rs_771623461

7 SubmittersRCV000587553 RCV001088944 RCV001183035 RCV002392800 RCV003995764

NM_170707.4(LMNA):c.694G>A (p.Gly232Arg)

SNV
Germline

Chr1:156134859

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10605004

rs_267607609

3 SubmittersRCV000519005 RCV002521931

NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)

SNV
Germline

Chr1:156115001

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA10605120

rs_886043109

4 SubmittersRCV000380269 RCV000809047 RCV004577329

NM_170707.4(LMNA):c.139G>A (p.Asp47Asn)

SNV
Germline

Chr1:156115057

Conflicting classifications of pathogenicity

Condition: not provided
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Conflicting Classifications

CA10605149

rs_267607608

2 SubmittersRCV000320512 RCV003987491

NM_170707.4(LMNA):c.498G>A (p.Arg166=)

SNV
Germline

Chr1:156130758

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10605219

rs_886043189

4 SubmittersRCV000395106 RCV002059182 RCV002338846

NM_170707.4(LMNA):c.851T>C (p.Leu284Pro)

SNV
Germline

Chr1:156135227

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Conflicting Classifications

CA10605303

rs_886043260

3 SubmittersRCV000390988 RCV000693559 RCV002250618

NM_170707.4(LMNA):c.1599C>T (p.Ser533=)

SNV
Germline

Chr1:156137223

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10605409

rs_886043346

5 SubmittersRCV000362667 RCV001525716 RCV002401994 RCV002519217 RCV003995777

NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)

SNV
Germline

Chr1:156137702

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Charcot-Marie-Tooth disease type 2
not specified
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
11 conditions

Criteria Provided
Conflicting Classifications

CA050891

rs_373671419

11 SubmittersRCV000334194 RCV000622473 RCV000541582 RCV000825772 RCV001183038 RCV001172624 RCV004992158 RCV005044537

NM_170707.4(LMNA):c.75C>T (p.Arg25=)

SNV
Germline

Chr1:156114993

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10605468

rs_80356804

2 SubmittersRCV000316060 RCV001452238

NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser)

SNV
Germline

Chr1:156138708

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Familial partial lipodystrophy, Dunnigan type
Primary dilated cardiomyopathy
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA051671

rs_752598065

7 SubmittersRCV000533234 RCV000658526 RCV003335301 RCV003995784 RCV004734939

NM_170707.4(LMNA):c.1311C>T (p.Ser437=)

SNV
Germline

Chr1:156136367

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049800

rs_763224059

7 SubmittersRCV000377625 RCV000726198 RCV001087891 RCV001183042 RCV002379144 RCV003995786

NM_170707.4(LMNA):c.591G>A (p.Leu197=)

SNV
Germline

Chr1:156134480

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10606277

rs_886044049

4 SubmittersRCV000323285 RCV002059252 RCV003532078 RCV003995787

NM_170707.4(LMNA):c.1314G>A (p.Gly438=)

SNV
Germline

Chr1:156136370

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA049826

rs_774817302

8 SubmittersRCV000726528 RCV001177599 RCV002379154 RCV005238859 RCV001083806 RCV001172637

NM_170707.4(LMNA):c.732G>A (p.Ala244=)

SNV
Germline

Chr1:156134897

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA054233

rs_756952925

6 SubmittersRCV000278718 RCV000769725 RCV001416242 RCV003995794 RCV004992167

NM_170707.4(LMNA):c.1488G>A (p.Thr496=)

SNV
Germline

Chr1:156137028

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Dilated cardiomyopathy 1A
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease type 2
not specified
Congenital muscular dystrophy due to LMNA mutation
Cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050383

rs_375516745

8 SubmittersRCV000272434 RCV000283389 RCV000295329 RCV000337310 RCV000329882 RCV000341138 RCV000364565 RCV000424743 RCV000399235 RCV000769730 RCV000733840 RCV001093869 RCV001097147 RCV002392823 RCV003995796

NM_170707.4(LMNA):c.514-11C>T

SNV
Germline

Chr1:156134392

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
Dilated cardiomyopathy 1A
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10608308

rs_886045365

5 SubmittersRCV000259634 RCV000277232 RCV000312526 RCV000319234 RCV000338954 RCV000372986 RCV000367228 RCV000373949 RCV000828218 RCV001096563 RCV002061154 RCV004639205 RCV005402898

NM_170707.4(LMNA):c.294G>A (p.Glu98=)

SNV
Germline

Chr1:156115212

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Mandibuloacral dysplasia with type A lipodystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10608333

rs_886045363

5 SubmittersRCV000268830 RCV000268358 RCV000303772 RCV000304893 RCV000338865 RCV000364211 RCV000358456 RCV000404276 RCV001101770 RCV001718593 RCV003231435 RCV005589808

NM_170707.4(LMNA):c.130G>T (p.Val44Phe)

SNV
Germline

Chr1:156115048

Conflicting classifications of pathogenicity

Congenital muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA16043361

rs_1057518971

2 SubmittersRCV000415420 RCV001861451

NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)

SNV
Germline

Chr1:156115208

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
11 conditions
Cardiovascular phenotype
not specified
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA16609882

rs_1060502216

8 SubmittersRCV000472865 RCV000598315 RCV001524820 RCV002489054 RCV002436430 RCV003387849 RCV004000799

NM_170707.4(LMNA):c.122G>A (p.Arg41His)

SNV
Germline

Chr1:156115040

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16609885

rs_1060502215

2 SubmittersRCV000457713 RCV000994129

NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)

SNV
Germline

Chr1:156136082

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA16609888

rs_1060502214

1 SubmittersRCV000458536

NM_170707.4(LMNA):c.988G>T (p.Glu330Ter)

SNV
Germline

Chr1:156135952

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA16609891

rs_1060502211

1 SubmittersRCV000467141

NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter)

SNV
Germline

Chr1:156136042

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16617001

rs_1064796677

1 SubmittersRCV000481311

NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)

SNV
Germline

Chr1:156115076

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16621576

rs_60290646

2 SubmittersRCV000816556 RCV000488077

NM_170707.4(LMNA):c.1764C>T (p.Cys588=)

SNV
Germline

Chr1:156138553

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051286

rs_759016336

5 SubmittersRCV000488247 RCV002404275 RCV002525985 RCV004806369

NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)

SNV
Germline

Chr1:156134508

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342817053

rs_1085307888

2 SubmittersRCV000490224 RCV003743751

NM_170707.4(LMNA):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr1:156115225

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342808718

rs_1131691980

2 SubmittersRCV000492819 RCV005091051

NM_170707.4(LMNA):c.439G>C (p.Ala147Pro)

SNV
Germline

Chr1:156130699

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342815415

rs_139875047

2 SubmittersRCV000493099 RCV001060974

NM_170707.4(LMNA):c.1126T>C (p.Tyr376His)

SNV
Germline

Chr1:156136090

Likely pathogenic

Condition: not provided
Limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA342820546

rs_1131691263

2 SubmittersRCV000493512 RCV005625638

NM_170707.4(LMNA):c.1390A>G (p.Met464Val)

SNV
Germline

Chr1:156136930

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050209

rs_200262654

8 SubmittersRCV000800973 RCV000772026 RCV000725643 RCV002395208 RCV002506209 RCV004003508

NM_170707.4(LMNA):c.513+12C>A

SNV
Germline

Chr1:156130785

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA31008193

rs_756758566

3 SubmittersRCV000500206 RCV002060129 RCV005589847

NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)

SNV
Germline

Chr1:156135208

Pathogenic

Muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342817513

rs_1553265433

2 SubmittersRCV000503745 RCV001382395

NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)

SNV
Germline

Chr1:156136081

Likely pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA342820510

rs_1553265739

1 SubmittersRCV000502219

NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)

SNV
Germline

Chr1:156136219

Likely pathogenic

Muscular dystrophy

Criteria Provided
Single Submitter

CA342820778

rs_267607576

1 SubmittersRCV000501231

NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)

SNV
Germline

Chr1:156137212

Pathogenic/Likely pathogenic

Muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342823527

rs_780302064

2 SubmittersRCV000500844 RCV000697810

NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)

SNV
Germline

Chr1:156138575

Conflicting classifications of pathogenicity

Muscular dystrophy
Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051326

rs_769561386

6 SubmittersRCV000503392 RCV000653834 RCV000992277 RCV001526033 RCV004003526

NM_170707.4(LMNA):c.234G>T (p.Lys78Asn)

SNV
Germline

Chr1:156115152

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 9

Criteria Provided
Single Submitter

CA342808375

rs_727505038

1 SubmittersRCV000511737

NM_170707.4(LMNA):c.122G>T (p.Arg41Leu)

SNV
Germline

Chr1:156115040

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342807753

rs_1060502215

2 SubmittersRCV000518408 RCV000653844

NM_170707.4(LMNA):c.1190G>A (p.Arg397His)

SNV
Germline

Chr1:156136246

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA049391

rs_747952058

7 SubmittersRCV000523012 RCV000695647 RCV002341216 RCV003532151 RCV004003591 RCV005044772

NM_170707.4(LMNA):c.1698+1G>C

SNV
Germline

Chr1:156137744

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
LMNA-related disorder
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342825921

rs_1553266337

7 SubmittersRCV000519351 RCV001524187 RCV003581682 RCV004527626 RCV004992297 RCV004806384

NM_170707.4(LMNA):c.1608+10C>T

SNV
Germline

Chr1:156137242

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
11 conditions

Criteria Provided
Conflicting Classifications

CA050747

rs_748917147

2 SubmittersRCV000529134 RCV002483494

NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)

SNV
Germline

Chr1:156115012

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA342807424

rs_1553261891

2 SubmittersRCV000529491 RCV000785916

NM_170707.4(LMNA):c.592C>T (p.Gln198Ter)

SNV
Germline

Chr1:156134481

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342816989

rs_1553265165

1 SubmittersRCV000549843

NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)

SNV
Germline

Chr1:156137182

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342823343

rs_267607557

1 SubmittersRCV000540642

NM_170707.4(LMNA):c.870G>A (p.Glu290=)

SNV
Germline

Chr1:156135246

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054576

rs_747275587

6 SubmittersRCV000553950 RCV000597468 RCV001191882 RCV002448795 RCV003999471

NM_170707.4(LMNA):c.877C>T (p.Gln293Ter)

SNV
Germline

Chr1:156135253

Pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342817717

rs_1553265455

2 SubmittersRCV000532201 RCV005589861

NM_170707.4(LMNA):c.897C>T (p.Ile299=)

SNV
Germline

Chr1:156135273

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054647

rs_762718963

5 SubmittersRCV000542339 RCV000617823 RCV001185071 RCV003999472

NM_170707.4(LMNA):c.936+1G>A

SNV
Germline

Chr1:156135313

Pathogenic

Charcot-Marie-Tooth disease type 2
Papillary renal cell carcinoma type 1

Criteria Provided
Single Submitter

CA342818117

rs_267607588

2 SubmittersRCV000552554 RCV005898453

NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)

SNV
Germline

Chr1:156136925

Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Single Submitter

CA342822406

rs_1553265999

1 SubmittersRCV000578339

NM_170707.4(LMNA):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:156114921

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
See cases
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA342805841

rs_794728598

4 SubmittersRCV000579197 RCV000653926 RCV001268969 RCV001594399

NM_170707.4(LMNA):c.867C>T (p.His289=)

SNV
Germline

Chr1:156135243

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA054567

rs_780415585

6 SubmittersRCV000584877 RCV001178182 RCV001454538 RCV002448816 RCV004002385 RCV004530631

NM_170707.4(LMNA):c.1478A>C (p.Gln493Pro)

SNV
Germline

Chr1:156137018

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342822801

rs_1553266048

2 SubmittersRCV000594075 RCV001867919

NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys)

SNV
Germline

Chr1:156136078

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342820494

rs_1553265733

3 SubmittersRCV000592581 RCV000696116

NM_170707.4(LMNA):c.483G>A (p.Glu161=)

SNV
Germline

Chr1:156130743

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
11 conditions

Criteria Provided
Conflicting Classifications

CA421068349

rs_1553264647

3 SubmittersRCV000598095 RCV002341521 RCV002483600

NM_170707.4(LMNA):c.528A>T (p.Leu176=)

SNV
Germline

Chr1:156134417

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA31010889

rs_1026599240

5 SubmittersRCV000598349 RCV001178641 RCV001448884 RCV004002459 RCV005589865

NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)

SNV
Germline

Chr1:156137206

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342823494

rs_1187380696

2 SubmittersRCV000593248 RCV006612419

NM_170707.4(LMNA):c.1047G>A (p.Arg349=)

SNV
Germline

Chr1:156136011

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA048860

rs_147015659

4 SubmittersRCV000594543 RCV001406347 RCV001524473 RCV002404613

NM_170707.4(LMNA):c.893G>C (p.Arg298Pro)

SNV
Germline

Chr1:156135269

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342817795

rs_762653476

2 SubmittersRCV000592791 RCV001205747

NM_170707.4(LMNA):c.1337A>G (p.Asp446Gly)

SNV
Germline

Chr1:156136393

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342822060

rs_58541611

3 SubmittersRCV000593108 RCV001387373

NM_170707.4(LMNA):c.480C>T (p.Gly160=)

SNV
Germline

Chr1:156130740

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA053570

rs_758848135

4 SubmittersRCV000617617 RCV001314765 RCV003532203 RCV004002700

NM_170707.4(LMNA):c.513+2T>G

SNV
Germline

Chr1:156130775

Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342815749

rs_1553264668

3 SubmittersRCV000618096 RCV000786357 RCV003581698

NM_170707.4(LMNA):c.610C>G (p.Leu204Val)

SNV
Germline

Chr1:156134499

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Condition: not provided
11 conditions
not specified

Criteria Provided
Conflicting Classifications

CA342817031

rs_1553265177

7 SubmittersRCV000618027 RCV001185566 RCV001067181 RCV002223883 RCV002483720 RCV005407809

NM_170707.4(LMNA):c.1324G>A (p.Val442Met)

SNV
Germline

Chr1:156136380

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Familial partial lipodystrophy, Dunnigan type
Lethal tight skin contracture syndrome
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Cardiomyopathy
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049885

rs_368542816

9 SubmittersRCV000621062 RCV000808964 RCV001096945 RCV001096946 RCV001096939 RCV001096940 RCV001102354 RCV001102355 RCV001096942 RCV001096944 RCV001190252 RCV001096941 RCV001096943 RCV001544605 RCV004002668

NM_170707.4(LMNA):c.1608+5G>A

SNV
Germline

Chr1:156137237

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA658795540

rs_267607539

1 SubmittersRCV000619007

NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)

SNV
Unknown

Chr1:156134500

Likely pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA342817035

rs_1553265180

1 SubmittersRCV000623152

NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter)

SNV
Unknown

Chr1:156137183

Pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA342823348

rs_58362413

1 SubmittersRCV000622793

NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)

SNV
Germline

Chr1:156137118

Pathogenic/Likely pathogenic

Primary familial dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA342822966

rs_57730570

4 SubmittersRCV000624376 RCV001070590 RCV004025260 RCV006252381

NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)

SNV
Germline

Chr1:156115223

Conflicting classifications of pathogenicity

Inborn genetic diseases
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342808708

rs_1553262007

3 SubmittersRCV000622678 RCV001376156 RCV003133407

NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)

SNV
Germline

Chr1:156138534

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
11 conditions

Criteria Provided
Conflicting Classifications

CA342826551

rs_57830985

4 SubmittersRCV001524890 RCV002404709 RCV002533137 RCV002506519

NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)

SNV
Germline

Chr1:156114977

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342807133

rs_1553261858

2 SubmittersRCV000626229 RCV003581701

NM_170707.4(LMNA):c.329G>A (p.Arg110His)

SNV
Germline

Chr1:156115247

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA052231

rs_556237236

5 SubmittersRCV000626177 RCV001186690 RCV003106008 RCV004002756 RCV005392183

NM_170707.4(LMNA):c.241T>C (p.Tyr81His)

SNV
Germline

Chr1:156115159

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342808404

rs_1553261977

2 SubmittersRCV000653914 RCV001289082

NM_170707.4(LMNA):c.391C>T (p.Gln131Ter)

SNV
Germline

Chr1:156130651

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815144

rs_1553264593

1 SubmittersRCV000653933

NM_170707.4(LMNA):c.1749G>A (p.Ser583=)

SNV
Germline

Chr1:156138538

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
not specified
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA31015378

rs_970494454

6 SubmittersRCV000654027 RCV000769732 RCV001662711 RCV002397317 RCV004004118

NM_170707.4(LMNA):c.1890G>A (p.Gly630=)

SNV
Germline

Chr1:156138679

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051614

rs_770389147

5 SubmittersRCV000653961 RCV002406474 RCV004004115 RCV006275020 RCV006552630

NM_170707.4(LMNA):c.937-1G>A

SNV
Germline

Chr1:156135900

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342819711

rs_1553265606

2 SubmittersRCV000653870 RCV002369757

NM_170707.4(LMNA):c.1380+2T>G

SNV
Germline

Chr1:156136438

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342822325

rs_1553265924

1 SubmittersRCV000653953

NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)

SNV
Germline

Chr1:156136080

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342820502

rs_1553265736

2 SubmittersRCV000677300 RCV001384174

NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)

SNV
Germline

Chr1:156136931

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to LMNA mutation
Hutchinson-Gilford syndrome

Criteria Provided
Conflicting Classifications

CA342822430

rs_1281896947

2 SubmittersRCV000680035 RCV000986431

NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)

SNV
Germline

Chr1:156136083

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820516

rs_1340894696

1 SubmittersRCV000704281

NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)

SNV
Germline

Chr1:156136414

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Lethal tight skin contracture syndrome
Condition: not provided
Primary dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
11 conditions

Criteria Provided
Conflicting Classifications

CA049965

rs_267607598

8 SubmittersRCV000690888 RCV001097051 RCV001097053 RCV001102456 RCV001097049 RCV001097050 RCV001097052 RCV001183072 RCV001097054 RCV001102454 RCV001786410 RCV003999552 RCV005250092 RCV005046932

NM_170707.4(LMNA):c.1911C>A (p.Phe637Leu)

SNV
Germline

Chr1:156138700

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA026527

rs_117939448

4 SubmittersRCV000702617 RCV001177162 RCV003999732 RCV004639336

NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)

SNV
Germline

Chr1:156114922

Pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342805855

rs_1558115754

2 SubmittersRCV000688289 RCV002343440

NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)

SNV
Germline

Chr1:156136240

Pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342820935

rs_267607561

2 SubmittersRCV000706257 RCV003165920

NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)

SNV
Germline

Chr1:156138651

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051434

rs_765594825

9 SubmittersRCV000687429 RCV001193913 RCV001191647 RCV001572302 RCV002406543 RCV002493155 RCV004004266

NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)

SNV
Germline

Chr1:156115009

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342807397

rs_1228406418

2 SubmittersRCV000695532 RCV003456423

NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)

SNV
Germline

Chr1:156130756

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
11 conditions
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA053599

rs_370200334

5 SubmittersRCV000695871 RCV002334317 RCV002499247 RCV003532242 RCV003999646

NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)

SNV
Germline

Chr1:156115102

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA500017

rs_56793579

2 SubmittersRCV000691484 RCV005870798

NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)

SNV
Germline

Chr1:156114983

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
11 conditions
Dilated cardiomyopathy 1A
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA30999069

rs_1016767319

7 SubmittersRCV000712226 RCV001798969 RCV001318123 RCV002477648 RCV003147538 RCV003999795 RCV005348205

NM_170707.4(LMNA):c.1466T>G (p.Leu489Arg)

SNV
Germline

Chr1:156137006

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA342822754

rs_1558132909

3 SubmittersRCV000727585 RCV001213786 RCV005870824

NM_170707.4(LMNA):c.1827A>T (p.Gly609=)

SNV
Germline

Chr1:156138616

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA421258012

rs_1558135172

3 SubmittersRCV000729234 RCV001443776 RCV002406662

NM_170707.4(LMNA):c.1366A>T (p.Asn456Tyr)

SNV
Germline

Chr1:156136422

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342822243

rs_267607599

2 SubmittersRCV000729830 RCV001862185

NM_170707.4(LMNA):c.1968+37C>T

SNV
Germline

Chr1:156138794

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
11 conditions

Criteria Provided
Conflicting Classifications

CA051810

rs_555070042

3 SubmittersRCV000731456 RCV002067118 RCV005046993

NM_170707.4(LMNA):c.640-52C>T

SNV
Germline

Chr1:156134753

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
not specified
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA31011218

rs_41314033

7 SubmittersRCV000731588 RCV001511690 RCV001700299 RCV004540059

NM_170707.4(LMNA):c.1530C>T (p.Thr510=)

SNV
Germline

Chr1:156137154

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050588

rs_138098342

4 SubmittersRCV000735004 RCV001088060 RCV002397519 RCV003532253

NM_170707.4(LMNA):c.937-8C>G

SNV
Germline

Chr1:156135893

Conflicting classifications of pathogenicity

Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054893

rs_751707982

6 SubmittersRCV000774196 RCV001456120 RCV001796209 RCV001796210 RCV003231611

NM_170707.4(LMNA):c.639+1G>A

SNV
Germline

Chr1:156134529

Likely pathogenic

Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342817103

rs_869125101

3 SubmittersRCV000781511 RCV000797832 RCV004702414

NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)

SNV
Unknown

Chr1:156134892

Likely pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA342817279

rs_1165819867

1 SubmittersRCV000785172

NM_170707.4(LMNA):c.810G>C (p.Lys270Asn)

SNV
Germline

Chr1:156134975

Likely pathogenic

Abnormality of the musculature

Criteria Provided
Single Submitter

CA342817456

rs_267607631

1 SubmittersRCV001836884

NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)

SNV
Germline

Chr1:156134507

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342817050

rs_267607629

2 SubmittersRCV000788205 RCV002535769

NM_170707.4(LMNA):c.639+9T>C

SNV
Germline

Chr1:156134537

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA053923

rs_745768694

2 SubmittersRCV000788525 RCV001501103

NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)

SNV
Germline

Chr1:156115012

Pathogenic

Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA342807427

rs_1553261891

2 SubmittersRCV000812291 RCV004789213

NM_170707.4(LMNA):c.116A>T (p.Asn39Ile)

SNV
Germline

Chr1:156115034

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807683

rs_57983345

1 SubmittersRCV000804081

NM_170707.4(LMNA):c.121C>A (p.Arg41Ser)

SNV
Germline

Chr1:156115039

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342807733

rs_1572332164

2 SubmittersRCV000803355 RCV003133634

NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)

SNV
Germline

Chr1:156115061

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342807944

rs_1572332235

2 SubmittersRCV000800232 RCV003235401

NM_170707.4(LMNA):c.143G>T (p.Arg48Leu)

SNV
Germline

Chr1:156115061

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807945

rs_1572332235

1 SubmittersRCV000811094

NM_170707.4(LMNA):c.214C>T (p.Arg72Cys)

SNV
Germline

Chr1:156115132

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342808277

rs_17847247

3 SubmittersRCV000810112 RCV006347232 RCV006552891

NM_170707.4(LMNA):c.601A>T (p.Lys201Ter)

SNV
Germline

Chr1:156134490

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817012

rs_1572358860

1 SubmittersRCV000805149

NM_170707.4(LMNA):c.1156A>G (p.Arg386Gly)

SNV
Germline

Chr1:156136120

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820683

rs_1572363397

1 SubmittersRCV000801706

NM_170707.4(LMNA):c.1264G>T (p.Glu422Ter)

SNV
Germline

Chr1:156136320

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342821502

rs_1448275854

1 SubmittersRCV000823653

NM_170707.4(LMNA):c.1270A>G (p.Thr424Ala)

SNV
Germline

Chr1:156136326

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342821538

rs_1166140426

4 SubmittersRCV000796032 RCV001509064 RCV002370085 RCV003532264

NM_170707.4(LMNA):c.1541G>A (p.Trp514Ter)

SNV
Germline

Chr1:156137165

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342823242

rs_1572366412

1 SubmittersRCV000804745

NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)

SNV
Germline

Chr1:156138533

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
11 conditions

Criteria Provided
Conflicting Classifications

CA31015365

rs_918645468

7 SubmittersRCV000806558 RCV001509065 RCV002397643 RCV004001686 RCV004761799 RCV005047089

NM_170707.4(LMNA):c.1949A>G (p.Asn650Ser)

SNV
Germline

Chr1:156138738

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA31015708

rs_775728847

4 SubmittersRCV000799271 RCV002462154 RCV003532267 RCV004001623

NM_170707.4(LMNA):c.640-2A>G

SNV
Germline

Chr1:156134803

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817109

rs_1572359505

1 SubmittersRCV000821778

NM_170707.4(LMNA):c.357-2A>G

SNV
Germline

Chr1:156130615

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Hepatocellular carcinoma
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342814936

rs_113610699

3 SubmittersRCV000807553 RCV005902022 RCV005652450

NM_170707.4(LMNA):c.356+5G>A

SNV
Germline

Chr1:156115279

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
11 conditions

Criteria Provided
Conflicting Classifications

CA915941455

rs_1572332952

4 SubmittersRCV000822120 RCV004029093 RCV004776298 RCV005049712

NM_170707.4(LMNA):c.811-1G>A

SNV
Germline

Chr1:156135186

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342817464

rs_1365042239

3 SubmittersRCV000800997 RCV004028046 RCV005633707

NM_170707.4(LMNA):c.296G>C (p.Arg99Pro)

SNV
Germline

Chr1:156115214

Likely pathogenic

Primary familial dilated cardiomyopathy

Criteria Provided
Single Submitter

CA342808671

rs_1572332762

1 SubmittersRCV000845422

NM_170707.4(LMNA):c.475G>T (p.Glu159Ter)

SNV
Germline

Chr1:156130735

Pathogenic

Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342815562

rs_267607622

2 SubmittersRCV000984808 RCV001068018

NM_170707.4(LMNA):c.1227A>G (p.Thr409=)

SNV
Germline

Chr1:156136283

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2B1
Hutchinson-Gilford syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049519

rs_762130433

9 SubmittersRCV000865471 RCV001100367 RCV001100369 RCV001102348 RCV001102350 RCV001102352 RCV001102353 RCV001100368 RCV001100370 RCV001102349 RCV001102351 RCV001191849 RCV001700317 RCV001726349 RCV003307601 RCV004002962

NM_170707.4(LMNA):c.1969-4T>C

SNV
Germline

Chr1:156139076

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051906

rs_751715969

6 SubmittersRCV000921791 RCV001179743 RCV001702860 RCV001173404 RCV004807222

NM_170707.4(LMNA):c.937-5T>C

SNV
Germline

Chr1:156135896

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA31012911

rs_1001248677

4 SubmittersRCV000953808 RCV001180881 RCV001198844 RCV003169470

NM_170707.4(LMNA):c.1969-2A>T

SNV
Germline

Chr1:156139078

Likely pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA342828427

rs_1572370360

1 SubmittersRCV002249095

NM_170707.4(LMNA):c.80C>T (p.Thr27Ile)

SNV
Germline

Chr1:156114998

Likely pathogenic

Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342807313

rs_863225270

2 SubmittersRCV000991275 RCV005092985

NM_170707.4(LMNA):c.122G>C (p.Arg41Pro)

SNV
Germline

Chr1:156115040

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342807746

rs_1060502215

1 SubmittersRCV000994130

NM_170707.4(LMNA):c.1146C>A (p.Gly382=)

SNV
Germline

Chr1:156136110

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA421257875

rs_57508089

1 SubmittersRCV000994132

NM_170707.4(LMNA):c.1182C>T (p.Thr394=)

SNV
Germline

Chr1:156136238

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421257939

rs_1409406468

4 SubmittersRCV000994134 RCV001439975 RCV002337050 RCV006545745

NM_170707.4(LMNA):c.274C>G (p.Leu92Val)

SNV
Germline

Chr1:156115192

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA342808563

rs_267607560

3 SubmittersRCV001054035 RCV001170450 RCV004031698

NM_170707.4(LMNA):c.409C>G (p.Leu137Val)

SNV
Germline

Chr1:156130669

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA342815251

rs_747998566

2 SubmittersRCV001064120 RCV001253095

NM_170707.4(LMNA):c.659G>A (p.Arg220His)

SNV
Germline

Chr1:156134824

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Congenital muscular dystrophy due to LMNA mutation
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054066

rs_780066296

6 SubmittersRCV001062157 RCV001181352 RCV002365743 RCV002462304 RCV003989636 RCV004000123

NM_170707.4(LMNA):c.1304G>A (p.Arg435His)

SNV
Germline

Chr1:156136360

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Criteria Provided
Conflicting Classifications

CA342821813

rs_1263919141

4 SubmittersRCV001054840 RCV003130131 RCV003458326 RCV003333129

NM_170707.4(LMNA):c.1368C>G (p.Asn456Lys)

SNV
Germline

Chr1:156136424

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342822254

rs_61235244

1 SubmittersRCV001044424

NM_170707.4(LMNA):c.1645G>A (p.Val549Met)

SNV
Germline

Chr1:156137690

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050866

rs_781774834

2 SubmittersRCV001040478 RCV001525577

NM_170707.4(LMNA):c.639+1G>T

SNV
Germline

Chr1:156134529

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342817104

rs_869125101

2 SubmittersRCV001065501 RCV002355077

NM_170707.4(LMNA):c.1488+1G>T

SNV
Germline

Chr1:156137029

Pathogenic

Charcot-Marie-Tooth disease type 2
Melanoma

Criteria Provided
Single Submitter

CA342822851

rs_267607640

2 SubmittersRCV001048954 RCV005912494

NM_170707.4(LMNA):c.937-9C>A

SNV
Germline

Chr1:156135892

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA916080235

rs_1332011298

2 SubmittersRCV001068265 RCV004000174

NM_170707.4(LMNA):c.1158-1G>T

SNV
Germline

Chr1:156136213

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820746

rs_1651598289

1 SubmittersRCV001049778

NM_170707.4(LMNA):c.1968+3G>A

SNV
Germline

Chr1:156138760

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA526670822

rs_1250284097

2 SubmittersRCV001092176 RCV001177999

NM_005572.3(LMNA):c.-223C>T

SNV
Germline

Chr1:156114696

Conflicting classifications of pathogenicity

Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2B1
Lethal tight skin contracture syndrome
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Emery-Dreifuss muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA30998964

rs_188625872

2 SubmittersRCV001099599 RCV001097799 RCV001097800 RCV001099593 RCV001099598 RCV001099600 RCV001099594 RCV001099595 RCV001099596 RCV001099597 RCV001564412

NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)

SNV
Germline

Chr1:156136394

Conflicting classifications of pathogenicity

Hutchinson-Gilford syndrome
Lethal tight skin contracture syndrome
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Mandibuloacral dysplasia with type A lipodystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Familial partial lipodystrophy, Dunnigan type
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049944

rs_505058

4 SubmittersRCV001100501 RCV001100503 RCV001100502 RCV001100505 RCV001100506 RCV001100504 RCV001102452 RCV001102453 RCV001102451 RCV001102450 RCV001186448 RCV005093479 RCV004807306

NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)

SNV
Germline

Chr1:156134521

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A

Criteria Provided
Conflicting Classifications

CA31011025

rs_987157491

7 SubmittersRCV001170452 RCV001175610 RCV001301048 RCV002355132 RCV003132248 RCV004000271 RCV004587059

NM_170707.4(LMNA):c.215G>A (p.Arg72His)

SNV
Germline

Chr1:156115133

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA052051

rs_727504340

2 SubmittersRCV001186710 RCV005405531

NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)

SNV
Germline

Chr1:156135970

Conflicting classifications of pathogenicity

Cardiomyopathy
Charcot-Marie-Tooth disease type 2
11 conditions
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA342820181

rs_1237093879

6 SubmittersRCV001183937 RCV001876124 RCV002484004 RCV003314669 RCV004008421 RCV004994286

NM_170707.4(LMNA):c.1230G>A (p.Gln410=)

SNV
Germline

Chr1:156136286

Conflicting classifications of pathogenicity

Cardiomyopathy
11 conditions
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421258004

rs_1651615685

3 SubmittersRCV001187184 RCV005040002 RCV004008679

NM_170707.4(LMNA):c.1580G>T (p.Arg527Leu)

SNV
Germline

Chr1:156137204

Conflicting classifications of pathogenicity

Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342823487

rs_57520892

3 SubmittersRCV001178403 RCV001875896 RCV004807330

NM_170707.4(LMNA):c.1699-7T>C

SNV
Germline

Chr1:156138481

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051132

rs_771074100

6 SubmittersRCV001180930 RCV001262512 RCV001469235 RCV002264213 RCV004006700

NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser)

SNV
Germline

Chr1:156136087

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342820537

rs_879254162

3 SubmittersRCV001193914 RCV003480983 RCV005094031

NM_170707.4(LMNA):c.550C>T (p.Gln184Ter)

SNV
Germline

Chr1:156134439

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342816797

rs_1651341099

2 SubmittersRCV001200924 RCV003117843

NM_170707.4(LMNA):c.92A>G (p.Glu31Gly)

SNV
Germline

Chr1:156115010

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807411

rs_1649709575

1 SubmittersRCV001214508

NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys)

SNV
Germline

Chr1:156136111

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA342820637

rs_1651580090

3 SubmittersRCV001220492 RCV003129737 RCV003313994

NM_170707.4(LMNA):c.115A>C (p.Asn39His)

SNV
Germline

Chr1:156115033

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807660

rs_267607627

1 SubmittersRCV001204509

NM_170707.4(LMNA):c.163G>T (p.Glu55Ter)

SNV
Germline

Chr1:156115081

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808052

rs_1649719689

1 SubmittersRCV001211199

NM_170707.4(LMNA):c.217G>T (p.Glu73Ter)

SNV
Germline

Chr1:156115135

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342808287

rs_1649727816

2 SubmittersRCV001212067 RCV001780125

NM_170707.4(LMNA):c.590T>C (p.Leu197Pro)

SNV
Germline

Chr1:156134479

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342816986

rs_1651348222

1 SubmittersRCV001208397

NM_170707.4(LMNA):c.1149G>T (p.Glu383Asp)

SNV
Germline

Chr1:156136113

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820650

rs_267607603

1 SubmittersRCV001210900

NM_170707.4(LMNA):c.1558T>A (p.Trp520Arg)

SNV
Germline

Chr1:156137182

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342823345

rs_267607557

1 SubmittersRCV001213240

NM_170707.4(LMNA):c.265C>G (p.Arg89Gly)

SNV
Germline

Chr1:156115183

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808520

rs_267607559

1 SubmittersRCV001232305

NM_170707.4(LMNA):c.934C>T (p.Gln312Ter)

SNV
Germline

Chr1:156135310

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342818090

rs_1651466808

1 SubmittersRCV001232733

NM_170707.4(LMNA):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr1:156136024

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820294

rs_1651564707

1 SubmittersRCV001237127

NM_170707.4(LMNA):c.1399T>A (p.Trp467Arg)

SNV
Germline

Chr1:156136939

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342822470

rs_267607639

1 SubmittersRCV001236829

NM_170707.4(LMNA):c.1444C>G (p.Arg482Gly)

SNV
Germline

Chr1:156136984

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342822665

rs_57920071

2 SubmittersRCV001238528 RCV006347577

NM_170707.4(LMNA):c.185G>T (p.Arg62Leu)

SNV
Germline

Chr1:156115103

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808119

rs_1649721643

1 SubmittersRCV001247423

NM_170707.4(LMNA):c.832G>A (p.Ala278Thr)

SNV
Germline

Chr1:156135208

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
LMNA-related disorder
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342817512

rs_1553265433

4 SubmittersRCV001289083 RCV001863151 RCV004528448 RCV005403014

NM_170707.4(LMNA):c.869A>T (p.Glu290Val)

SNV
Germline

Chr1:156135245

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817680

rs_1651453317

1 SubmittersRCV001326041

NM_170707.4(LMNA):c.1608A>G (p.Glu536=)

SNV
Germline

Chr1:156137232

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA421069209

rs_1651737692

2 SubmittersRCV001324017 RCV004995681

NM_170707.4(LMNA):c.133T>C (p.Tyr45His)

SNV
Germline

Chr1:156115051

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342807839

rs_1649714371

3 SubmittersRCV001328735 RCV001823197 RCV003581785

NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)

SNV
Germline

Chr1:156115105

Conflicting classifications of pathogenicity

Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2
not specified
11 conditions
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA30999173

rs_899373360

6 SubmittersRCV001330500 RCV001367762 RCV001823769 RCV002499650 RCV003365335 RCV006548147

NM_170707.4(LMNA):c.810+17G>A

SNV
Germline

Chr1:156134992

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA054361

rs_771192755

2 SubmittersRCV001337052 RCV003745314

NM_170707.4(LMNA):c.937-7C>A

SNV
Germline

Chr1:156135894

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA31012903

rs_267607681

3 SubmittersRCV001367857 RCV001820069 RCV005401831

NM_170707.4(LMNA):c.1040A>C (p.Glu347Ala)

SNV
Germline

Chr1:156136004

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820250

rs_1449688220

1 SubmittersRCV001373565

NM_170707.4(LMNA):c.1115A>T (p.Glu372Val)

SNV
Germline

Chr1:156136079

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA342820500

rs_2102888292

2 SubmittersRCV001366528 RCV002438853

NM_170707.4(LMNA):c.112C>G (p.Leu38Val)

SNV
Germline

Chr1:156115030

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807628

rs_2102817550

1 SubmittersRCV001379195

NM_170707.4(LMNA):c.513+2T>C

SNV
Germline

Chr1:156130775

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815748

rs_1553264668

1 SubmittersRCV001377378

NM_170707.4(LMNA):c.1A>T (p.Met1Leu)

SNV
Germline

Chr1:156114919

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342805814

rs_2102816719

1 SubmittersRCV001390690

NM_170707.4(LMNA):c.194A>G (p.Glu65Gly)

SNV
Germline

Chr1:156115112

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342808163

rs_2102818172

2 SubmittersRCV001387324 RCV005635147

NM_170707.4(LMNA):c.275T>C (p.Leu92Pro)

SNV
Germline

Chr1:156115193

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808568

rs_2102818731

1 SubmittersRCV001384525

NM_170707.4(LMNA):c.481G>T (p.Glu161Ter)

SNV
Germline

Chr1:156130741

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815589

rs_28933093

1 SubmittersRCV001381102

NM_170707.4(LMNA):c.1150G>A (p.Glu384Lys)

SNV
Germline

Chr1:156136114

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820652

rs_2102888695

1 SubmittersRCV001381143

NM_170707.4(LMNA):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr1:156136954

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342822539

rs_2102893828

1 SubmittersRCV001390362

NM_170707.4(LMNA):c.1608+2T>G

SNV
Germline

Chr1:156137234

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342823673

rs_2102896324

2 SubmittersRCV001388734 RCV002395876

NM_170707.4(LMNA):c.992G>T (p.Arg331Leu)

SNV
Germline

Chr1:156135956

Likely pathogenic

Dilated cardiomyopathy 1A

No Assertion Criteria Provided

CA342820152

rs_59301204

1 SubmittersRCV001775173

NM_170707.4(LMNA):c.1362G>A (p.Leu454=)

SNV
Germline

Chr1:156136418

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049977

rs_151160622

3 SubmittersRCV001453275 RCV002384705 RCV004007051

NM_170707.4(LMNA):c.776A>G (p.Tyr259Cys)

SNV
Germline

Chr1:156134941

Likely pathogenic

Abnormality of the musculature

Criteria Provided
Single Submitter

CA342817382

rs_2102881813

1 SubmittersRCV001814547

NM_170707.4(LMNA):c.433G>T (p.Glu145Ter)

SNV
Germline

Chr1:156130693

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342815390

rs_60310264

1 SubmittersRCV001547102

NM_170707.4(LMNA):c.938T>C (p.Leu313Pro)

SNV
Germline

Chr1:156135902

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342819726

rs_2102886618

3 SubmittersRCV001866011 RCV001568706

NM_170707.4(LMNA):c.1699-2A>G

SNV
Unknown

Chr1:156138486

Likely pathogenic

Familial partial lipodystrophy, Dunnigan type

Criteria Provided
Single Submitter

CA342826194

rs_2102901069

1 SubmittersRCV001706860

NM_170707.4(LMNA):c.308A>G (p.Gln103Arg)

SNV
Germline

Chr1:156115226

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA342808721

rs_2102818914

2 SubmittersRCV001730263

NM_170707.4(LMNA):c.112C>T (p.Leu38Phe)

SNV
Germline

Chr1:156115030

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Conflicting Classifications

CA342807643

rs_2102817550

3 SubmittersRCV001733771 RCV001861044 RCV003136132

NM_170707.4(LMNA):c.164A>G (p.Glu55Gly)

SNV
Unknown

Chr1:156115082

Likely pathogenic

Hutchinson-Gilford syndrome

Criteria Provided
Single Submitter

CA342808056

rs_2102817930

1 SubmittersRCV001754577

NM_170707.4(LMNA):c.513+1G>T

SNV
Germline

Chr1:156130774

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA31008128

rs_397517904

1 SubmittersRCV001782389

NM_170707.4(LMNA):c.1342G>T (p.Glu448Ter)

SNV
Germline

Chr1:156136398

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342822109

rs_2102891243

2 SubmittersRCV001782390 RCV002541204

NM_170707.4(LMNA):c.370G>A (p.Glu124Lys)

SNV
Germline

Chr1:156130630

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1A

Criteria Provided
Conflicting Classifications

CA342815036

rs_2102865393

2 SubmittersRCV001799387 RCV003319227

NM_170707.4(LMNA):c.1584G>C (p.Thr528=)

SNV
Germline

Chr1:156137208

Conflicting classifications of pathogenicity

Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421069173

rs_80356812

4 SubmittersRCV001805618 RCV002542409 RCV003130550 RCV004808133

NM_170707.4(LMNA):c.1698+1G>A

SNV
Germline

Chr1:156137744

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342825918

rs_1553266337

4 SubmittersRCV001813872 RCV001885299 RCV004009160 RCV006550542

NM_170707.4(LMNA):c.1396A>G (p.Asn466Asp)

SNV
Germline

Chr1:156136936

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342822454

rs_2102893640

1 SubmittersRCV001817655

NM_170707.4(LMNA):c.810+2T>C

SNV
Germline

Chr1:156134977

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342817459

rs_2102882192

2 SubmittersRCV001817692 RCV002542701

NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)

SNV
Germline

Chr1:156115086

Likely pathogenic

7 conditions

Criteria Provided
Single Submitter

CA342808067

rs_2102817952

1 SubmittersRCV001829276

NM_170707.4(LMNA):c.203A>T (p.Glu68Val)

SNV
Germline

Chr1:156115121

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808225

rs_2102818240

1 SubmittersRCV001919151

NM_170707.4(LMNA):c.280T>C (p.Ser94Pro)

SNV
Germline

Chr1:156115198

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808593

rs_2102818745

1 SubmittersRCV001870422

NM_170707.4(LMNA):c.811-2A>G

SNV
Germline

Chr1:156135185

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA342817461

rs_2102883099

2 SubmittersRCV001959700 RCV005868503

NM_170707.4(LMNA):c.142C>G (p.Arg48Gly)

SNV
Germline

Chr1:156115060

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA050260

rs_769977710

1 SubmittersRCV001881619

NM_170707.4(LMNA):c.593A>C (p.Gln198Pro)

SNV
Germline

Chr1:156134482

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342816991

rs_2102878915

1 SubmittersRCV001975882

NM_170707.4(LMNA):c.422T>C (p.Leu141Pro)

SNV
Germline

Chr1:156130682

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815328

rs_2102865805

1 SubmittersRCV001905256

NM_170707.4(LMNA):c.266G>C (p.Arg89Pro)

SNV
Germline

Chr1:156115184

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA342808527

rs_59040894

2 SubmittersRCV001942368 RCV004785349

NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn)

SNV
Germline

Chr1:156136033

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342820311

rs_267607567

3 SubmittersRCV001908860 RCV002407031 RCV004719194

NM_170707.4(LMNA):c.936G>A (p.Gln312=)

SNV
Germline

Chr1:156135312

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA421068710

rs_2102884287

2 SubmittersRCV002047096 RCV006280707

NM_170707.4(LMNA):c.11C>A (p.Pro4Gln)

SNV
Germline

Chr1:156114929

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
11 conditions

Criteria Provided
Conflicting Classifications

CA342805937

rs_267607620

3 SubmittersRCV002010787 RCV004990559 RCV005050511

NM_170707.4(LMNA):c.674G>T (p.Arg225Leu)

SNV
Germline

Chr1:156134839

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817174

rs_199474724

1 SubmittersRCV001942505

NM_170707.4(LMNA):c.125T>C (p.Leu42Ser)

SNV
Germline

Chr1:156115043

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807769

rs_2102817644

1 SubmittersRCV001976882

NM_170707.4(LMNA):c.135C>G (p.Tyr45Ter)

SNV
Germline

Chr1:156115053

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807859

rs_2102817698

1 SubmittersRCV002002508

NM_170707.4(LMNA):c.1115A>G (p.Glu372Gly)

SNV
Germline

Chr1:156136079

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820499

rs_2102888292

1 SubmittersRCV001968762

NM_170707.4(LMNA):c.43C>T (p.Gln15Ter)

SNV
Germline

Chr1:156114961

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342806990

rs_2102817088

1 SubmittersRCV001949326

NM_170707.4(LMNA):c.128C>A (p.Ala43Glu)

SNV
Germline

Chr1:156115046

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807802

rs_2102817667

1 SubmittersRCV001956044

NM_170707.4(LMNA):c.1542G>A (p.Trp514Ter)

SNV
Germline

Chr1:156137166

Pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342823253

rs_2102895466

2 SubmittersRCV001949332 RCV004990502

NM_170707.4(LMNA):c.334G>T (p.Glu112Ter)

SNV
Germline

Chr1:156115252

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808861

rs_1553262031

1 SubmittersRCV001962574

NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)

SNV
Germline

Chr1:156115162

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
11 conditions
not specified

Criteria Provided
Conflicting Classifications

CA342808417

rs_59270054

3 SubmittersRCV002041238 RCV002498066 RCV003994380

NM_170707.4(LMNA):c.1608+2T>A

SNV
Germline

Chr1:156137234

Likely pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA342823669

rs_2102896324

1 SubmittersRCV002052057

NM_170707.4(LMNA):c.379C>T (p.Leu127=)

SNV
Germline

Chr1:156130639

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421068214

rs_1428192739

2 SubmittersRCV002139919 RCV003533135

NM_170707.4(LMNA):c.1236G>A (p.Gly412=)

SNV
Germline

Chr1:156136292

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421258013

rs_763537103

2 SubmittersRCV002091664 RCV006553048

NM_170707.4(LMNA):c.937-6C>A

SNV
Germline

Chr1:156135895

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA31012909

rs_759083379

2 SubmittersRCV002162381 RCV004011195

NM_170707.4(LMNA):c.357-3748C>T

SNV
Germline

Chr1:156126869

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA31005437

rs_1048086299

3 SubmittersRCV002224332 RCV004700694

NM_170707.4(LMNA):c.717C>A (p.Ser239Arg)

SNV
Germline

Chr1:156134882

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342817262

rs_2102881081

2 SubmittersRCV002226591 RCV005095784

NM_170707.4(LMNA):c.1381-2A>C

SNV
Germline

Chr1:156136919

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

No Assertion Criteria Provided

CA342822375

rs_267607600

1 SubmittersRCV002281663

NM_170707.4(LMNA):c.971A>G (p.Glu324Gly)

SNV
Germline

Chr1:156135935

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342820046

rs_2102886914

2 SubmittersRCV002267267 RCV003096060

NM_170707.4(LMNA):c.784G>A (p.Glu262Lys)

SNV
Germline

Chr1:156134949

Likely pathogenic

Hutchinson-Gilford syndrome

Criteria Provided
Single Submitter

CA342817401

rs_397517909

1 SubmittersRCV002271733

NM_170707.4(LMNA):c.658C>G (p.Arg220Gly)

SNV
Germline

Chr1:156134823

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342817147

rs_370134870

2 SubmittersRCV002281466 RCV003581815

NM_170707.4(LMNA):c.633C>G (p.Tyr211Ter)

SNV
Germline

Chr1:156134522

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA342817086

rs_2527968714

1 SubmittersRCV002354035

NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)

SNV
Germline

Chr1:156134482

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
11 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342816992

rs_2102878915

4 SubmittersRCV002355911 RCV003098072 RCV005042815 RCV006553228

NM_170707.4(LMNA):c.913C>T (p.Gln305Ter)

SNV
Germline

Chr1:156135289

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA342817895

rs_2527981305

1 SubmittersRCV002378765

NM_170707.4(LMNA):c.937-2A>G

SNV
Germline

Chr1:156135899

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342819702

rs_2527988932

4 SubmittersRCV002371739 RCV005433217 RCV006469930

NM_170707.4(LMNA):c.937-3C>T

SNV
Germline

Chr1:156135898

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054845

rs_756694090

2 SubmittersRCV002371740 RCV003533213

NM_170707.4(LMNA):c.178C>A (p.Arg60Ser)

SNV
Germline

Chr1:156115096

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342808090

rs_28928900

2 SubmittersRCV002407755 RCV006620620

NM_170707.4(LMNA):c.244G>T (p.Glu82Ter)

SNV
Germline

Chr1:156115162

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA342808415

rs_59270054

1 SubmittersRCV002430693

NM_170707.4(LMNA):c.807C>G (p.Ala269=)

SNV
Germline

Chr1:156134972

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA421068577

rs_1194309507

4 SubmittersRCV002475097 RCV004007474 RCV006559485

NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)

SNV
Germline

Chr1:156130624

Pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342814995

rs_1222398892

2 SubmittersRCV003091152 RCV004071975

NM_170707.4(LMNA):c.893G>A (p.Arg298His)

SNV
Germline

Chr1:156135269

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA31011856

rs_762653476

5 SubmittersRCV003085902 RCV004009388 RCV004786826 RCV005402002

NM_170707.4(LMNA):c.431A>C (p.Lys144Thr)

SNV
Germline

Chr1:156130691

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815378

rs_2527936480

1 SubmittersRCV003061524

NM_170707.4(LMNA):c.115A>G (p.Asn39Asp)

SNV
Germline

Chr1:156115033

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA342807663

rs_267607627

2 SubmittersRCV002664185 RCV005254717

NM_170707.4(LMNA):c.356+2T>G

SNV
Germline

Chr1:156115276

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808914

rs_2527835305

1 SubmittersRCV002648207

NM_170707.4(LMNA):c.674G>C (p.Arg225Pro)

SNV
Germline

Chr1:156134839

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817173

rs_199474724

1 SubmittersRCV003104339

NM_170707.4(LMNA):c.28A>C (p.Thr10Pro)

SNV
Germline

Chr1:156114946

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342806835

rs_2527829303

1 SubmittersRCV002650630

NM_170707.4(LMNA):c.193G>A (p.Glu65Lys)

SNV
Germline

Chr1:156115111

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342808154

rs_1168314722

2 SubmittersRCV002700942 RCV004007552

NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)

SNV
Germline

Chr1:156130657

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA342815178

rs_1650974818

2 SubmittersRCV002710779 RCV003317619

NM_170707.4(LMNA):c.955A>T (p.Lys319Ter)

SNV
Germline

Chr1:156135919

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342819893

rs_2527989438

1 SubmittersRCV002806963

NM_170707.4(LMNA):c.194A>T (p.Glu65Val)

SNV
Germline

Chr1:156115112

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808165

rs_2102818172

1 SubmittersRCV002825231

NM_170707.4(LMNA):c.604G>T (p.Glu202Ter)

SNV
Germline

Chr1:156134493

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342817019

rs_2527968047

2 SubmittersRCV002814720 RCV005405938

NM_170707.4(LMNA):c.1609-2A>G

SNV
Germline

Chr1:156137652

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342825274

rs_2528018166

1 SubmittersRCV002846766

NM_170707.4(LMNA):c.1367A>C (p.Asn456Thr)

SNV
Germline

Chr1:156136423

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342822248

rs_60992550

1 SubmittersRCV002829524

NM_170707.4(LMNA):c.655A>T (p.Lys219Ter)

SNV
Germline

Chr1:156134820

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817142

rs_778798942

1 SubmittersRCV002835311

NM_170707.4(LMNA):c.1215C>T (p.His405=)

SNV
Germline

Chr1:156136271

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421257987

rs_2527997089

2 SubmittersRCV002937461 RCV005403249

NM_170707.4(LMNA):c.1585G>C (p.Ala529Pro)

SNV
Germline

Chr1:156137209

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342823511

rs_121912494

1 SubmittersRCV002958219

NM_170707.4(LMNA):c.1316G>A (p.Arg439His)

SNV
Germline

Chr1:156136372

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342821904

rs_1171976101

4 SubmittersRCV002994876 RCV003533325 RCV004007756 RCV006451308

NM_170707.4(LMNA):c.245A>G (p.Glu82Gly)

SNV
Germline

Chr1:156115163

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808421

rs_2527833277

1 SubmittersRCV003003137

NM_170707.4(LMNA):c.117T>A (p.Asn39Lys)

SNV
Germline

Chr1:156115035

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807688

rs_2527831101

1 SubmittersRCV003019110

NM_170707.4(LMNA):c.317T>C (p.Leu106Pro)

SNV
Germline

Chr1:156115235

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342808766

rs_2527834566

2 SubmittersRCV003030763 RCV005233060

NM_170707.4(LMNA):c.250G>T (p.Glu84Ter)

SNV
Germline

Chr1:156115168

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808449

rs_794728602

1 SubmittersRCV003066344

NM_170707.4(LMNA):c.617T>C (p.Phe206Ser)

SNV
Germline

Chr1:156134506

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342817048

rs_2527968384

2 SubmittersRCV003142613 RCV003581891

NM_170707.4(LMNA):c.148C>G (p.Arg50Gly)

SNV
Germline

Chr1:156115066

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342807966

rs_59931416

2 SubmittersRCV003134080 RCV005099310

NM_170707.4(LMNA):c.1237G>A (p.Gly413Ser)

SNV
Germline

Chr1:156136293

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA049571

rs_766811975

4 SubmittersRCV003165132 RCV004017972 RCV004009627 RCV005100966

NM_170707.4(LMNA):c.1381-1G>A

SNV
Germline

Chr1:156136920

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA342822378

rs_2528006468

1 SubmittersRCV003177759

NM_170707.4(LMNA):c.2T>A (p.Met1Lys)

SNV
Germline

Chr1:156114920

Pathogenic

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342805828

rs_2527828780

2 SubmittersRCV003217711 RCV004719317

NM_170707.4(LMNA):c.872A>T (p.Glu291Val)

SNV
Germline

Chr1:156135248

Likely pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA342817697

rs_2527980043

1 SubmittersRCV003228574

NM_170707.4(LMNA):c.95A>C (p.Lys32Thr)

SNV
Germline

Chr1:156115013

Pathogenic

Congenital muscular dystrophy due to LMNA mutation

No Assertion Criteria Provided

CA342807435

rs_2527830691

1 SubmittersRCV003326722

NM_170707.4(LMNA):c.1070A>G (p.Asp357Gly)

SNV
Germline

Chr1:156136034

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342820315

rs_1131690785

2 SubmittersRCV003231952 RCV006612951

NM_170707.4(LMNA):c.401T>C (p.Leu134Pro)

SNV
Germline

Chr1:156130661

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342815195

rs_2527936127

2 SubmittersRCV003319270 RCV005636881

NM_170707.4(LMNA):c.139G>T (p.Asp47Tyr)

SNV
Germline

Chr1:156115057

Conflicting classifications of pathogenicity

Condition: not provided
Familial partial lipodystrophy, Dunnigan type

Criteria Provided
Conflicting Classifications

CA342807883

rs_267607608

2 SubmittersRCV003313659 RCV005254761

NM_170707.4(LMNA):c.331G>A (p.Glu111Lys)

SNV
Germline

Chr1:156115249

Likely pathogenic

Hutchinson-Gilford syndrome

Criteria Provided
Single Submitter

CA342808843

rs_61726475

1 SubmittersRCV003314200

NM_170707.4(LMNA):c.1157+1G>C

SNV
Germline

Chr1:156136122

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA342820690

rs_267607590

2 SubmittersRCV003334109 RCV004992599

NM_170707.4(LMNA):c.1750C>A (p.Arg584Ser)

SNV
Germline

Chr1:156138539

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342826571

rs_578193315

2 SubmittersRCV003582338 RCV005622241

NM_170707.4(LMNA):c.734T>A (p.Leu245Gln)

SNV
Germline

Chr1:156134899

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817293

rs_2527973813

1 SubmittersRCV003582417

NM_170707.4(LMNA):c.356+2T>A

SNV
Germline

Chr1:156115276

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808912

rs_2527835305

1 SubmittersRCV003582339

NM_170707.4(LMNA):c.884C>A (p.Ser295Ter)

SNV
Germline

Chr1:156135260

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817751

rs_769210828

1 SubmittersRCV003582582

NM_170707.4(LMNA):c.179G>A (p.Arg60His)

SNV
Germline

Chr1:156115097

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Familial partial lipodystrophy, Dunnigan type

Criteria Provided
Conflicting Classifications

CA342808091

rs_794728601

2 SubmittersRCV003581110 RCV005254823

NM_170707.4(LMNA):c.121C>T (p.Arg41Cys)

SNV
Germline

Chr1:156115039

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807740

rs_1572332164

1 SubmittersRCV003581422

NM_170707.4(LMNA):c.397C>G (p.Arg133Gly)

SNV
Germline

Chr1:156130657

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815176

rs_1650974818

1 SubmittersRCV003581424

NM_170707.4(LMNA):c.778A>G (p.Lys260Glu)

SNV
Germline

Chr1:156134943

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA342817387

rs_2527974976

2 SubmittersRCV003581426 RCV005604813

NM_170707.4(LMNA):c.1124C>G (p.Ala375Gly)

SNV
Germline

Chr1:156136088

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820540

rs_886042239

1 SubmittersRCV003581427

NM_170707.4(LMNA):c.1560G>T (p.Trp520Cys)

SNV
Germline

Chr1:156137184

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342823357

rs_794728595

1 SubmittersRCV003581428

NM_170707.4(LMNA):c.74G>A (p.Arg25His)

SNV
Germline

Chr1:156114992

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807260

rs_61578124

1 SubmittersRCV003582949

NM_170707.4(LMNA):c.827A>C (p.Gln276Pro)

SNV
Germline

Chr1:156135203

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817504

rs_2527978799

1 SubmittersRCV003583004

NM_170707.4(LMNA):c.455T>C (p.Leu152Pro)

SNV
Germline

Chr1:156130715

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA342815482

rs_2527936976

2 SubmittersRCV003582052 RCV004634299

NM_170707.4(LMNA):c.725C>A (p.Ala242Glu)

SNV
Germline

Chr1:156134890

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817275

rs_397517906

1 SubmittersRCV003745626

NM_170707.4(LMNA):c.409C>T (p.Leu137=)

SNV
Germline

Chr1:156130669

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA053365

rs_747998566

2 SubmittersRCV003744179 RCV004765932

NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)

SNV
Germline

Chr1:156136010

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA342820264

rs_58789393

3 SubmittersRCV003743173 RCV004805565 RCV005047775

NM_170707.4(LMNA):c.143G>A (p.Arg48His)

SNV
Germline

Chr1:156115061

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807943

rs_1572332235

1 SubmittersRCV003743314

NM_170707.4(LMNA):c.215G>C (p.Arg72Pro)

SNV
Germline

Chr1:156115133

Likely pathogenic

Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Single Submitter

1 SubmittersRCV004690464

NM_170707.4(LMNA):c.1138T>A (p.Leu380Met)

SNV
Germline

Chr1:156136102

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820594

rs_1215331296

1 SubmittersRCV003838514

NM_170707.4(LMNA):c.-11A>G

SNV
Germline

Chr1:156114908

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049442

rs_758887740

2 SubmittersRCV004014529 RCV006551009

NM_170707.4(LMNA):c.1367A>G (p.Asn456Ser)

SNV
Germline

Chr1:156136423

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342822250

rs_60992550

4 SubmittersRCV004012546 RCV005103324 RCV005628396 RCV006551117

NM_170707.4(LMNA):c.174G>T (p.Gly58=)

SNV
Germline

Chr1:156115092

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA421257687

rs_2527832076

2 SubmittersRCV004011756 RCV004994416

NM_170707.4(LMNA):c.1903G>A (p.Gly635Ser)

SNV
Germline

Chr1:156138692

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342827772

rs_1651876607

3 SubmittersRCV004008211 RCV004636884 RCV006550950

NM_170707.4(LMNA):c.1489-1G>A

SNV
Germline

Chr1:156137112

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA342822916

rs_1231097123

1 SubmittersRCV004524853

NM_170707.4(LMNA):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:156114919

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA342805818

rs_2102816719

1 SubmittersRCV004524855

NM_170707.4(LMNA):c.1560G>C (p.Trp520Cys)

SNV
Germline

Chr1:156137184

Likely pathogenic

Congenital muscular dystrophy

Criteria Provided
Single Submitter

CA342823355

rs_794728595

1 SubmittersRCV004527517

NM_170707.4(LMNA):c.595A>G (p.Thr199Ala)

SNV
Germline

Chr1:156134484

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342816998

rs_2527967845

2 SubmittersRCV004527553 RCV004697345

NM_170707.4(LMNA):c.1157+2T>A

SNV
Germline

Chr1:156136123

Pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2527994027

2 SubmittersRCV004556980

NM_170707.4(LMNA):c.1608+1G>T

SNV
Germline

Chr1:156137233

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004702049

NM_170707.4(LMNA):c.1325T>A (p.Val442Glu)

SNV
Germline

Chr1:156136381

Likely pathogenic

LMNA-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004736521

NM_170707.4(LMNA):c.1445G>C (p.Arg482Pro)

SNV
Unknown

Chr1:156136985

Likely pathogenic

Familial partial lipodystrophy, Dunnigan type

Criteria Provided
Single Submitter

1 SubmittersRCV004759589

NM_170707.4(LMNA):c.502C>T (p.Gln168Ter)

SNV
Germline

Chr1:156130762

Likely pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV004789995

NM_170707.4(LMNA):c.1968G>T (p.Gln656His)

SNV
Germline

Chr1:156138757

Likely pathogenic

Hutchinson-Gilford syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005416228

NM_170707.4(LMNA):c.28A>T (p.Thr10Ser)

SNV
Germline

Chr1:156114946

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005074809

NM_005572.4(LMNA):c.1714C>G (p.Arg572Gly)

SNV
Germline

Chr1:156137759

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005088761 RCV005632822

NM_170707.4(LMNA):c.1158-1G>A

SNV
Germline

Chr1:156136213

Pathogenic

Primary familial dilated cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005088427

NM_170707.4(LMNA):c.29C>G (p.Thr10Ser)

SNV
Germline

Chr1:156114947

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005113678

NM_170707.4(LMNA):c.689A>C (p.Asp230Ala)

SNV
Germline

Chr1:156134854

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005113686

NM_170707.4(LMNA):c.746G>C (p.Arg249Pro)

SNV
Germline

Chr1:156134911

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005113687

NM_170707.4(LMNA):c.1336G>A (p.Asp446Asn)

SNV
Germline

Chr1:156136392

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Hepatocellular carcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV005113693 RCV005937788

NM_170707.4(LMNA):c.811-1G>C

SNV
Germline

Chr1:156135186

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005138148

NM_170707.4(LMNA):c.1110C>A (p.Asp370Glu)

SNV
Germline

Chr1:156136074

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005154405

NM_170707.4(LMNA):c.271A>C (p.Thr91Pro)

SNV
Germline

Chr1:156115189

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005158563 RCV005623578

NM_170707.4(LMNA):c.833C>T (p.Ala278Val)

SNV
Germline

Chr1:156135209

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005163845

NM_170707.4(LMNA):c.991C>G (p.Arg331Gly)

SNV
Germline

Chr1:156135955

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005172856

NM_170707.4(LMNA):c.1058A>G (p.Gln353Arg)

SNV
Germline

Chr1:156136022

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005198057 RCV005358257

NM_170707.4(LMNA):c.1132A>C (p.Lys378Gln)

SNV
Unknown

Chr1:156136096

Likely pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005252014

NM_170707.4(LMNA):c.785A>T (p.Glu262Val)

SNV
Germline

Chr1:156134950

Likely pathogenic

Early onset multivalvular disease

No Assertion Criteria Provided

1 SubmittersRCV005255527

NM_170707.4(LMNA):c.514-2A>G

SNV
Germline

Chr1:156134401

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005364192

NM_170707.4(LMNA):c.1622G>T (p.Arg541Leu)

SNV
Germline

Chr1:156137667

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005404229

NM_170707.4(LMNA):c.1398T>G (p.Asn466Lys)

SNV
Germline

Chr1:156136938

Pathogenic

LMNA-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005407488

NM_170707.4(LMNA):c.185G>C (p.Arg62Pro)

SNV
Germline

Chr1:156115103

Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV005410220

NM_170707.4(LMNA):c.1004G>C (p.Arg335Pro)

SNV
Germline

Chr1:156135968

Likely pathogenic

Charcot-Marie-Tooth disease type 2B1
Mandibuloacral dysplasia with type A lipodystrophy
Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV005410223

NM_170707.4(LMNA):c.175C>G (p.Leu59Val)

SNV
Germline

Chr1:156115093

Likely pathogenic

Hutchinson-Gilford syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005412209

NM_170707.4(LMNA):c.184C>A (p.Arg62Ser)

SNV
Germline

Chr1:156115102

Pathogenic/Likely pathogenic

Primary familial dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005431457 RCV006479775

NM_170707.4(LMNA):c.1297C>T (p.His433Tyr)

SNV
Germline

Chr1:156136353

Likely pathogenic

Mandibuloacral dysplasia

No Assertion Criteria Provided

1 SubmittersRCV005629710

NM_170707.4(LMNA):c.97G>T (p.Glu33Ter)

SNV
Germline

Chr1:156115015

Likely pathogenic

Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

2 SubmittersRCV005636508 RCV005936100

NM_170707.4(LMNA):c.134A>T (p.Tyr45Phe)

SNV
Germline

Chr1:156115052

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005635710 RCV006613603

NM_170707.4(LMNA):c.1111A>T (p.Met371Leu)

SNV
Germline

Chr1:156136075

Likely pathogenic

Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Single Submitter

1 SubmittersRCV005860959

NM_170707.4(LMNA):c.91G>C (p.Glu31Gln)

SNV
Germline

Chr1:156115009

Likely pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005862023

NM_170707.4(LMNA):c.1549C>T (p.Gln517Ter)

SNV
Germline

Chr1:156137173

Pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005885829

NM_170707.4(LMNA):c.1608+2T>C

SNV
Germline

Chr1:156137234

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006271068

NM_170707.4(LMNA):c.356+2T>C

SNV
Germline

Chr1:156115276

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006508196

NM_170707.4(LMNA):c.357-1G>C

SNV
Germline

Chr1:156130616

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006524179

NM_170707.4(LMNA):c.1489-1G>C

SNV
Germline

Chr1:156137112

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006530421

NM_170707.4(LMNA):c.566G>C (p.Arg189Pro)

SNV
Germline

Chr1:156134455

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006570955

NM_170707.4(LMNA):c.1127A>G (p.Tyr376Cys)

SNV
Germline

Chr1:156136091

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006581122

NM_170707.4(LMNA):c.253C>T (p.Leu85Phe)

SNV
Germline

Chr1:156115171

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006625712

NM_170707.4(LMNA):c.496C>G (p.Arg166Gly)

SNV
Germline

Chr1:156130756

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006625717

NM_170707.4(LMNA):c.862G>A (p.Ala288Thr)

SNV
Germline

Chr1:156135238

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006625718

NM_170707.4(LMNA):c.1589T>A (p.Leu530His)

SNV
Germline

Chr1:156137213

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006625729