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Items: 1 to 100 of 205

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:156084804
GRCh38:
Chr1:156115013
LMNAK32TCongenital muscular dystrophy due to LMNA mutationPathogenic
(Apr 1, 2023)		no assertion criteria provided
2.
GRCh37:
Chr1:156084826
GRCh38:
Chr1:156115035
LMNAN39KCongenital muscular dystrophy due to LMNA mutationUncertain significanceno assertion criteria provided
3.
GRCh37:
Chr1:156084798
GRCh38:
Chr1:156115007
LMNAQ30PCongenital muscular dystrophy due to LMNA mutationUncertain significanceno assertion criteria provided
4.
GRCh37:
Chr1:156084799
GRCh38:
Chr1:156115008
LMNAE31fsCongenital muscular dystrophy due to LMNA mutationUncertain significanceno assertion criteria provided
5.
GRCh37:
Chr1:156084813
GRCh38:
Chr1:156115022
LMNAL35QCongenital muscular dystrophy due to LMNA mutationUncertain significanceno assertion criteria provided
6.
GRCh37:
Chr1:156104979
GRCh38:
Chr1:156135188
LMNAL159R, L172R, L190R, L271R, L85R, W50GCongenital muscular dystrophy due to LMNA mutationUncertain significanceno assertion criteria provided
7.
GRCh37:
Chr1:156106045
GRCh38:
Chr1:156136254
LMNAG301S, G319S, G192S, G214S, G288S, G400SCardiovascular phenotype, Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy,
Familial partial lipodystrophy, Dunnigan type, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Restrictive dermopathy 2, Hutchinson-Gilford syndromeDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
...see more		Uncertain significance
(Mar 30, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:156084854
GRCh38:
Chr1:156115063
LMNAV49LCongenital muscular dystrophy due to LMNA mutationUncertain significance
(Jun 23, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr1:156104645
GRCh38:
Chr1:156134854
LMNAD118G, D149G, D230GCharcot-Marie-Tooth disease type 2, not provided, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Mandibuloacral dysplasia with type A lipodystrophy, Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation,
Restrictive dermopathy 2, Charcot-Marie-Tooth disease type 2B1Familial partial lipodystrophy, Dunnigan type,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Uncertain significance
(Feb 18, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:156084953
GRCh38:
Chr1:156115162
LMNAE82QCongenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Charcot-Marie-Tooth disease type 2B1, Restrictive dermopathy 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophyCharcot-Marie-Tooth disease type 2,
...see more		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr1:156085065
GRCh38:
Chr1:156115274
LMNAR119LCharcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Restrictive dermopathy 2Familial partial lipodystrophy, Dunnigan type,
...see more		Uncertain significance
(Oct 16, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:156104988
GRCh38:
Chr1:156135197
LMNAR275fs, R194fs, R163fsCharcot-Marie-Tooth disease type 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type, Congenital muscular dystrophy due to LMNA mutation,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Restrictive dermopathy 2, Charcot-Marie-Tooth disease type 2B1,
Hutchinson-Gilford syndrome, Benign scapuloperoneal muscular dystrophy with cardiomyopathyHeart-hand syndrome, Slovenian type,
...see more		Pathogenic/Likely pathogenic
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:156084817
GRCh38:
Chr1:156115026
LMNAQ36HCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
14.
GRCh37:
Chr1:156105045
GRCh38:
Chr1:156135254
LMNAQ212L, Q181L, Q293LCharcot-Marie-Tooth disease type 2, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Oct 19, 2021)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:156084756
GRCh38:
Chr1:156114965
LMNAA16DCharcot-Marie-Tooth disease type 2, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Nov 15, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:156107480-156107481
GRCh38:
Chr1:156137689-156137690
LMNAV437fs, V468fs, V549fsMandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveCardiomyopathy,
...see more		Likely pathogenic
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:156084877
GRCh38:
Chr1:156115086
LMNAN56KCongenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type		Likely pathogeniccriteria provided, single submitter
18.
GRCh37:
Chr1:156105695
GRCh38:
Chr1:156135904
LMNAA202T, A233T, A314TCharcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Restrictive dermopathy 2, Familial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1ACardiomyopathy,
Charcot-Marie-Tooth disease type 2, ...see more		Uncertain significance
(Sep 24, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:156084821
GRCh38:
Chr1:156115030
LMNAL38FCharcot-Marie-Tooth disease type 2, not specifiedConflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr1:156084780
GRCh38:
Chr1:156114989
LMNAT24ICharcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveCardiovascular phenotype,
...see more		Uncertain significance
(Apr 6, 2023)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:156107016
GRCh38:
Chr1:156137225
LMNAT422S, T453S, T534SCharcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveCardiovascular phenotype,
not provided, Charcot-Marie-Tooth disease type 2, Cardiomyopathy,
...see more		Uncertain significance
(Jun 19, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:156100518
GRCh38:
Chr1:156130727
LMNA, LOC126805877R156H, R44H, R75HCharcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveCardiovascular phenotype,
not provided, Charcot-Marie-Tooth disease type 2, Cardiomyopathy,
...see more		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:156108873
GRCh38:
Chr1:156139082
LMNAS545R, S607R, S627R, S657RCharcot-Marie-Tooth disease type 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian typeHutchinson-Gilford syndrome,
...see more		Uncertain significance
(Mar 17, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:156084896
GRCh38:
Chr1:156115105
LMNAI63LCharcot-Marie-Tooth disease type 2, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Restrictive dermopathy 2, Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2B1,
Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathyMandibuloacral dysplasia with type A lipodystrophy,
not specified, Hutchinson-Gilford syndrome, ...see more		Uncertain significance
(Jan 18, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:156084842
GRCh38:
Chr1:156115051
LMNAY45HDilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutationUncertain significance
(Jan 17, 2020)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:156107491
GRCh38:
Chr1:156137700
LMNAD440A, D471A, D552ACharcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2Charcot-Marie-Tooth disease type 2,
...see more		Uncertain significance
(Jan 20, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:156106081
GRCh38:
Chr1:156136290
LMNAG300W, G412W, G331WCardiovascular phenotype, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation,
Restrictive dermopathy 2, Charcot-Marie-Tooth disease type 2B1Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Charcot-Marie-Tooth disease type 2, ...see more		Uncertain significance
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:156106134
GRCh38:
Chr1:156136343
LMNAS317R, S429R, S348RCharcot-Marie-Tooth disease type 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Familial partial lipodystrophy, Dunnigan type,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1A, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Hutchinson-Gilford syndromeRestrictive dermopathy 2,
...see more		Uncertain significance
(Mar 29, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr1:156105902
GRCh38:
Chr1:156136111
LMNAE271K, E302K, E383KCharcot-Marie-Tooth disease type 2, not provided, Congenital muscular dystrophy due to LMNA mutation
Pathogenic/Likely pathogenic
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:156106129
GRCh38:
Chr1:156136338
LMNAS316G, S347G, S428GCharcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Restrictive dermopathy 2,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophyCongenital muscular dystrophy due to LMNA mutation,
...see more		Uncertain significance
(Feb 7, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:156106084
GRCh38:
Chr1:156136293
LMNAG301C, G332C, G413CCharcot-Marie-Tooth disease type 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1,
Familial partial lipodystrophy, Dunnigan type, Restrictive dermopathy 2Congenital muscular dystrophy due to LMNA mutation,
not specified, ...see more		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:156106816
GRCh38:
Chr1:156137025
LMNACardiomyopathy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1,
Familial partial lipodystrophy, Dunnigan type, Restrictive dermopathy 2Congenital muscular dystrophy due to LMNA mutation,
...see more		Likely benign
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:156106211
GRCh38:
Chr1:156136420
LMNAR343H, R374H, R455HCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Cardiomyopathy,
Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Heart-hand syndrome, Slovenian type,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Restrictive dermopathy 2,
Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophyCharcot-Marie-Tooth disease type 2B1,
Familial partial lipodystrophy, Dunnigan type, Hutchinson-Gilford syndrome, ...see more		Uncertain significance
(Oct 20, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:156106133
GRCh38:
Chr1:156136342
LMNAS429N, S348N, S317NCharcot-Marie-Tooth disease type 2, Cardiomyopathy, Dilated cardiomyopathy 1A,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1Familial partial lipodystrophy, Dunnigan type,
Hutchinson-Gilford syndrome, ...see more		Uncertain significance
(Nov 9, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:156085002
GRCh38:
Chr1:156115211
LMNAE98GCharcot-Marie-Tooth disease type 2, Cardiomyopathy, Dilated cardiomyopathy 1A,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1Familial partial lipodystrophy, Dunnigan type,
Hutchinson-Gilford syndrome, ...see more		Uncertain significance
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:156108270
GRCh38:
Chr1:156138479
LMNACardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Cardiomyopathy,
Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Heart-hand syndrome, Slovenian type,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Restrictive dermopathy 2,
Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophyCharcot-Marie-Tooth disease type 2B1,
Familial partial lipodystrophy, Dunnigan type, Hutchinson-Gilford syndrome, ...see more		Likely benign
(Nov 28, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:156100420
GRCh38:
Chr1:156130629
LMNA, LOC126805877Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Cardiomyopathy,
Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Heart-hand syndrome, Slovenian type,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Restrictive dermopathy 2,
Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophyCharcot-Marie-Tooth disease type 2B1,
Familial partial lipodystrophy, Dunnigan type, Hutchinson-Gilford syndrome, ...see more		Likely benign
(Jan 7, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:156105761
GRCh38:
Chr1:156135970
LMNAR255W, R336W, R224WCharcot-Marie-Tooth disease type 2, not provided, Cardiomyopathy,
Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Heart-hand syndrome, Slovenian type,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Restrictive dermopathy 2,
Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophyCharcot-Marie-Tooth disease type 2B1,
Familial partial lipodystrophy, Dunnigan type, Hutchinson-Gilford syndrome, ...see more		Uncertain significance
(Jun 13, 2023)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:156105732
GRCh38:
Chr1:156135941
LMNAS326L, S214L, S245LCharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, not provided,
Cardiomyopathy, Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutationMandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Hutchinson-Gilford syndrome,
...see more		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:156100562
GRCh38:
Chr1:156130771
LMNA, LOC126805877K171E, K90E, K59ECharcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan typeHutchinson-Gilford syndrome,
Cardiomyopathy, ...see more		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr1:156108563-156108564
GRCh38:
Chr1:156138772-156138773
LMNACharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not provided,
Familial partial lipodystrophy, Dunnigan type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Congenital muscular dystrophy due to LMNA mutation,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeDilated cardiomyopathy 1A,
Restrictive dermopathy 2, Charcot-Marie-Tooth disease type 2B1, ...see more		Benign/Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:156106888
GRCh38:
Chr1:156137097
LMNACharcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 2,
not provided, Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutationMandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Hutchinson-Gilford syndrome,
...see more		Benign/Likely benign
(Dec 17, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:156106185
GRCh38:
Chr1:156136394
LMNAD334E, D446E, D365EHutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Lethal tight skin contracture syndrome, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
Emery-Dreifuss muscular dystrophy, Cardiomyopathy ...see more		Uncertain significance
(Feb 21, 2020)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:156085077
GRCh38:
Chr1:156115286
LMNACongenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome, Charcot-Marie-Tooth disease type 2B1,
Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Dilated cardiomyopathy 1A, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules		Uncertain significance
(Feb 2, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr1:156107617
GRCh38:
Chr1:156137826
LMNAHutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr1:156084487
GRCh38:
Chr1:156114696
LMNACongenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy, not provided,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Lethal tight skin contracture syndrome ...see more		Conflicting interpretations of pathogenicity
(Aug 3, 2018)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr1:156104752
GRCh38:
Chr1:156134961
LMNAT154A, T266A, T185ACongenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome, Charcot-Marie-Tooth disease type 2B1,
Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy 1A,
Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr1:156084666
GRCh38:
Chr1:156114875
LMNACongenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
49.
GRCh37:
Chr1:156107551
GRCh38:
Chr1:156137760
LMNAR491H, R572HDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation,
Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Restrictive dermopathy 2not provided,
...see more		Uncertain significance
(Mar 8, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:156084981
GRCh38:
Chr1:156115190
LMNAT91IDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2B1,
Familial partial lipodystrophy, Dunnigan type, Restrictive dermopathy 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessivenot provided,
Charcot-Marie-Tooth disease type 2, ...see more		Uncertain significance
(Dec 14, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:156104648
GRCh38:
Chr1:156134857
LMNAN150S, N231S, N119Snot provided, Cardiomyopathy, Cardiovascular phenotype,
Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1A, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type,
Restrictive dermopathy 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathyHeart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy, Congenital muscular dystrophy due to LMNA mutation,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Uncertain significance
(Aug 27, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:156085035
GRCh38:
Chr1:156115244
LMNAV109ECharcot-Marie-Tooth disease type 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutationRestrictive dermopathy 2,
...see more		Uncertain significance
(Nov 11, 2021)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:156106147
GRCh38:
Chr1:156136356
LMNAA353T, A322T, A434TCharcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome, Restrictive dermopathy 2,
Familial partial lipodystrophy, Dunnigan type, Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Mandibuloacral dysplasia with type A lipodystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveCharcot-Marie-Tooth disease type 2,
...see more		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:156084789
GRCh38:
Chr1:156114998
LMNAT27IDilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutationLikely pathogenic
(Sep 12, 2019)		criteria provided, single submitter
55.
GRCh37:
Chr1:156106706
GRCh38:
Chr1:156136915
LMNACharcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2B1, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Restrictive dermopathy 2, Dilated cardiomyopathy 1A, Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophyCongenital muscular dystrophy due to LMNA mutation,
...see more		Likely benign
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:156106826
GRCh38:
Chr1:156137035
LMNACharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Restrictive dermopathy 2, Heart-hand syndrome, Slovenian type, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Hutchinson-Gilford syndrome, Charcot-Marie-Tooth disease type 2B1Congenital muscular dystrophy due to LMNA mutation,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Likely benign
(Feb 22, 2023)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:156106074
GRCh38:
Chr1:156136283
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease type 2, Cardiomyopathy,
Cardiovascular phenotype, not provided, Emery-Dreifuss muscular dystrophy,
Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1A,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophyCharcot-Marie-Tooth disease type 2B1,
Hutchinson-Gilford syndrome, Lethal tight skin contracture syndrome, ...see more		Conflicting interpretations of pathogenicity
(May 2, 2023)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr1:156106979
GRCh38:
Chr1:156137188
LMNAC410R, C441R, C522RBenign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome, Dilated cardiomyopathy 1A,
Charcot-Marie-Tooth disease type 2B1, Congenital muscular dystrophy due to LMNA mutation		not providedno assertion provided
59.
GRCh37:
Chr1:156106245
GRCh38:
Chr1:156136454
LMNACharcot-Marie-Tooth disease type 2, not provided, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2B1,
Restrictive dermopathy 2, Familial partial lipodystrophy, Dunnigan typeCongenital muscular dystrophy due to LMNA mutation,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Likely benign
(Dec 23, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:156105782
GRCh38:
Chr1:156135991
LMNAR231W, R262W, R343WCharcot-Marie-Tooth disease type 2, Hutchinson-Gilford syndrome, Restrictive dermopathy 2,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian typeMandibuloacral dysplasia with type A lipodystrophy,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Cardiovascular phenotype, not specified,
Cardiomyopathy, Emery-Dreifuss muscular dystrophy, not provided,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease,
...see more		Conflicting interpretations of pathogenicity
(Nov 25, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr1:156105053
GRCh38:
Chr1:156135262
LMNAR184C, R215C, R296CCharcot-Marie-Tooth disease type 2, Cardiomyopathy, Congenital muscular dystrophy due to LMNA mutation,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndromeRestrictive dermopathy 2,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Uncertain significance
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:156108471
GRCh38:
Chr1:156138680
LMNAG601S, G519S, G631SCardiomyopathy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophyRestrictive dermopathy 2,
Charcot-Marie-Tooth disease type 2, ...see more		Uncertain significance
(Feb 28, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:156107495
GRCh38:
Chr1:156137704
LMNACharcot-Marie-Tooth disease type 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Charcot-Marie-Tooth disease type 2B1,
Familial partial lipodystrophy, Dunnigan type, Congenital muscular dystrophy due to LMNA mutationEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
Cardiomyopathy, ...see more		Likely benign
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:156106034
GRCh38:
Chr1:156136243
LMNAQ396L, Q315L, Q284LCharcot-Marie-Tooth disease type 2, Cardiomyopathy, not provided,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Restrictive dermopathy 2, Familial partial lipodystrophy, Dunnigan type,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1AMandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Uncertain significance
(Nov 9, 2021)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:156104659
GRCh38:
Chr1:156134868
LMNAR235S, R123S, R154SCongenital muscular dystrophy due to LMNA mutationUncertain significance
(Aug 7, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr1:156105708
GRCh38:
Chr1:156135917
LMNAA318V, A206V, A237VCharcot-Marie-Tooth disease type 2, Lethal tight skin contracture syndrome, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
Emery-Dreifuss muscular dystrophy, not provided, Cardiomyopathy,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan typeMandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, ...see more		Uncertain significance/Uncertain risk allele
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:156084774
GRCh38:
Chr1:156114983
LMNAS22LDilated cardiomyopathy 1A, Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1Familial partial lipodystrophy, Dunnigan type,
Charcot-Marie-Tooth disease type 2, not provided, Cardiomyopathy,
...see more		Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr1:156084977
GRCh38:
Chr1:156115186
LMNAK90EMandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan typenot provided,
Charcot-Marie-Tooth disease type 2, ...see more		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr1:156105060
GRCh38:
Chr1:156135269
LMNAR298L, R186L, R217LCharcot-Marie-Tooth disease type 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Familial partial lipodystrophy, Dunnigan type,
Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Restrictive dermopathy 2,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndromeEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Mar 24, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:156104718
GRCh38:
Chr1:156134927
LMNAD254E, D173E, D142ECharcot-Marie-Tooth disease type 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Hutchinson-Gilford syndrome,
Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Restrictive dermopathy 2Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Oct 29, 2021)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:156100547
GRCh38:
Chr1:156130756
LMNA, LOC126805877R166W, R54W, R85WCharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Hutchinson-Gilford syndrome, Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian typeRestrictive dermopathy 2,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr1:156106205
GRCh38:
Chr1:156136414
LMNAR453Q, R341Q, R372QCharcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy, Cardiomyopathy,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, not provided, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1AFamilial partial lipodystrophy, Dunnigan type,
Lethal tight skin contracture syndrome, ...see more		Conflicting interpretations of pathogenicity
(May 15, 2023)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr1:156108442
GRCh38:
Chr1:156138651
LMNAT591M, T621M, T509MCharcot-Marie-Tooth disease type 2, not specified, not provided,
Cardiovascular phenotype, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Hutchinson-Gilford syndrome,
Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Restrictive dermopathy 2, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Cardiomyopathy, ...see more		Conflicting interpretations of pathogenicity
(Dec 1, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr1:156106722
GRCh38:
Chr1:156136931
LMNAM464K, M352K, M383KHutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutationConflicting interpretations of pathogenicity
(May 28, 2019)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr1:156084822
GRCh38:
Chr1:156115031
LMNAL38HCongenital muscular dystrophy due to LMNA mutationUncertain significance
(Sep 1, 2017)		criteria provided, single submitter
76.
GRCh37:
Chr1:156084805
GRCh38:
Chr1:156115014
LMNACharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Dilated cardiomyopathy 1A,
Hutchinson-Gilford syndrome, Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophy,
Heart-hand syndrome, Slovenian type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeRestrictive dermopathy 2,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Cardiomyopathy, ...see more		Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:156084995
GRCh38:
Chr1:156115204
LMNAA96SCardiomyopathy, Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Restrictive dermopathy 2,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Benign scapuloperoneal muscular dystrophy with cardiomyopathyHeart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, not provided, ...see more		Uncertain significance
(Mar 16, 2023)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:156084768
GRCh38:
Chr1:156114977
LMNAP20LCongenital muscular dystrophy due to LMNA mutationLikely pathogenic
(Dec 18, 2017)		criteria provided, single submitter
79.
GRCh37:
Chr1:156108325
GRCh38:
Chr1:156138534
LMNAR552L, R582L, R470LCharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeDilated cardiomyopathy 1A,
Restrictive dermopathy 2, Inborn genetic diseases, Cardiomyopathy,
...see more		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr1:156105015
GRCh38:
Chr1:156135224
LMNAN283S, N202S, N171SCharcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, not provided,
Cardiovascular phenotype, Cardiomyopathy, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan typeMandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Restrictive dermopathy 2, ...see more		Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr1:156104290
GRCh38:
Chr1:156134499
LMNAL204V, L92V, L123VCharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Cardiomyopathy,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2, not provided,
...see more		Uncertain significance
(Jun 10, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:156105012
GRCh38:
Chr1:156135221
LMNAS282N, S170N, S201NCardiovascular phenotype, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1ARestrictive dermopathy 2,
...see more		Uncertain significance
(Feb 26, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:156106171
GRCh38:
Chr1:156136380
LMNAV442M, V361M, V330MEmery-Dreifuss muscular dystrophy, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, not provided,
Cardiomyopathy, Lethal tight skin contracture syndrome, Cardiovascular phenotype,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndromeCongenital muscular dystrophy due to LMNA mutation,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Charcot-Marie-Tooth disease type 2, ...see more		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr1:156108453-156108454
GRCh38:
Chr1:156138662-156138663
LMNAS513P, S595P, S625PCharcot-Marie-Tooth disease type 2, Cardiomyopathy, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeDilated cardiomyopathy 1A,
Restrictive dermopathy 2, Cardiovascular phenotype, ...see more		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:156104743
GRCh38:
Chr1:156134952
LMNAL263M, L151M, L182MCharcot-Marie-Tooth disease type 2, not provided, Cardiovascular phenotype,
Cardiomyopathy, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophyEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Restrictive dermopathy 2,
...see more		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:156106699
GRCh38:
Chr1:156136908
LMNAnot specified, not provided, Familial partial lipodystrophy, Dunnigan type,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Restrictive dermopathy 2,
Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathyHutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2, Cardiomyopathy,
...see more		Benign/Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr1:156084862
GRCh38:
Chr1:156115071
LMNACardiomyopathy, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2,
not specified, Congenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Restrictive dermopathy 2,
Familial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveCharcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Mandibuloacral dysplasia with type A lipodystrophy,
...see more		Likely benign
(Aug 6, 2021)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:156106825
GRCh38:
Chr1:156137034
LMNACardiomyopathy, Charcot-Marie-Tooth disease type 2, not specified,
not provided, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophyEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Restrictive dermopathy 2,
...see more		Uncertain significance
(May 18, 2023)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:156105020
GRCh38:
Chr1:156135229
LMNAV285L, V173L, V204Lnot provided, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeDilated cardiomyopathy 1A,
Restrictive dermopathy 2, Cardiomyopathy, ...see more		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:156100534
GRCh38:
Chr1:156130743
LMNA, LOC126805877not provided, Cardiovascular phenotype, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathyMandibuloacral dysplasia with type A lipodystrophy,
Restrictive dermopathy 2, ...see more		Conflicting interpretations of pathogenicity
(Sep 8, 2021)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr1:156108336
GRCh38:
Chr1:156138545
LMNAV474M, V556M, V586MCharcot-Marie-Tooth disease type 2, not provided, Cardiovascular phenotype,
not specified, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Restrictive dermopathy 2Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation,
...see more		Uncertain significance
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:156084803
GRCh38:
Chr1:156115012
LMNAK32ECongenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2Pathogenic/Likely pathogenic
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:156108330
GRCh38:
Chr1:156138539
LMNAR584C, R554C, R472CCardiovascular phenotype, not provided, Charcot-Marie-Tooth disease type 2,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Restrictive dermopathy 2Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Cardiomyopathy,
...see more		Uncertain significance
(Dec 28, 2021)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:156107033
GRCh38:
Chr1:156137242
LMNACharcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Restrictive dermopathy 2,
Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan typeEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Sep 22, 2021)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:156106103
GRCh38:
Chr1:156136312
LMNAR419H, R307H, R338HCardiovascular phenotype, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Restrictive dermopathy 2Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:156104716
GRCh38:
Chr1:156134925
LMNAD254N, D142N, D173NCharcot-Marie-Tooth disease type 2, Cardiomyopathy, not provided,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy, Congenital muscular dystrophy due to LMNA mutation,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1ARestrictive dermopathy 2,
Familial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:156106721
GRCh38:
Chr1:156136930
LMNAM464V, M352V, M383VCharcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Hutchinson-Gilford syndrome, Restrictive dermopathy 2,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Heart-hand syndrome, Slovenian type,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveMandibuloacral dysplasia with type A lipodystrophy,
Cardiovascular phenotype, not provided, Cardiomyopathy,
...see more		Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr1:156084999
GRCh38:
Chr1:156115208
LMNAK97TCharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Restrictive dermopathy 2,
Heart-hand syndrome, Slovenian type, Familial partial lipodystrophy, Dunnigan typeMandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, not provided, Cardiomyopathy,
...see more		Uncertain significance
(Aug 15, 2023)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr1:156104246
GRCh38:
Chr1:156134455
LMNAR189Q, R108Q, R77QDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2not provided,
Cardiomyopathy, Charcot-Marie-Tooth disease type 2, ...see more		Uncertain significance
(Oct 9, 2021)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:156107498
GRCh38:
Chr1:156137707
LMNADilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2Charcot-Marie-Tooth disease type 2,
not specified, Cardiovascular phenotype, ...see more		Likely benign
(Feb 8, 2022)		criteria provided, multiple submitters, no conflicts
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