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Items: 1 to 100 of 123

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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
21.
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
22.
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
23.
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
24.
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
25.
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
26.
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
27.
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
28.
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
29.
GRCh37:
Chr1:156108563-156108564
GRCh38:
Chr1:156138772-156138773
LMNADilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Congenital muscular dystrophy due to LMNA mutation,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Restrictive dermopathy 2, Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type,
Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndromeCharcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, not provided, ...see more		Benign/Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
30.
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
31.
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
32.
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
33.
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
34.
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
35.
GRCh37:
Chr1:156106147
GRCh38:
Chr1:156136356
LMNAA353T, A322T, A434TCharcot-Marie-Tooth disease type 2, Familial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Restrictive dermopathy 2, Hutchinson-Gilford syndrome,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1Congenital muscular dystrophy due to LMNA mutation,
...see more		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
36.
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
37.
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
38.
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
39.
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
40.
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
41.
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
42.
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
43.
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
44.
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
45.
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
46.
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
47.
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
48.
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
49.
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
50.
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
51.
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
52.
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
53.
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
54.
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
55.
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
56.
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
57.
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
58.
GRCh37:
Chr1:156106699
GRCh38:
Chr1:156136908
LMNACharcot-Marie-Tooth disease type 2, not provided, Cardiomyopathy,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Hutchinson-Gilford syndrome,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan typeBenign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Mandibuloacral dysplasia with type A lipodystrophy, not specified,
...see more		Benign/Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
59.
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
60.
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
61.
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
62.
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
63.
GRCh37:
Chr1:156108336
GRCh38:
Chr1:156138545
LMNAV474M, V556M, V586MCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not specified,
not provided, Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Congenital muscular dystrophy due to LMNA mutation, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Restrictive dermopathy 2Mandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
...see more		Uncertain significance
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
64.
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
65.
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
66.
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
67.
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
68.
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
69.
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
70.
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
71.
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
72.
GRCh37:
Chr1:156104966
GRCh38:
Chr1:156135175
LMNACardiomyopathy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Familial partial lipodystrophy, Dunnigan type,
Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy, 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 recessiveRestrictive dermopathy 2,
Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not specified,
...see more		Likely benign
(Feb 22, 2023)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:156105931
GRCh38:
Chr1:156136140
LMNACharcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 2B1,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Familial partial lipodystrophy, Dunnigan type, 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 syndromeDilated cardiomyopathy 1A,
Restrictive dermopathy 2, Charcot-Marie-Tooth disease type 2, not specified,
...see more		Likely benign
(Apr 17, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:156108437
GRCh38:
Chr1:156138646
LMNACharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B1, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Familial partial lipodystrophy, Dunnigan type, 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,
Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not specified,
Cardiomyopathy, ...see more		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:156084721
GRCh38:
Chr1:156114930
LMNACardiovascular phenotype, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, Cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan typeDilated cardiomyopathy 1A,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, ...see more		Benign/Likely benign
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:156106049
GRCh38:
Chr1:156136258
LMNAR401H, R320H, R289HCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not provided,
Cardiomyopathy, Charcot-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 lipodystrophyCongenital muscular dystrophy due to LMNA mutation,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Restrictive dermopathy 2,
...see more		Uncertain significance
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:156084709
GRCh38:
Chr1:156114918
LMNAnot provided, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1,
Restrictive dermopathy 2, 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, Congenital muscular dystrophy due to LMNA mutationMandibuloacral dysplasia with type A lipodystrophy,
Cardiomyopathy, ...see more		Uncertain significance
(May 3, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:156106784
GRCh38:
Chr1:156136993
LMNAP485A, P373A, P404ACharcot-Marie-Tooth disease type 2, Cardiomyopathy, Charcot-Marie-Tooth disease type 2B1,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Familial partial lipodystrophy, Dunnigan type, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophyRestrictive dermopathy 2,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, not provided, ...see more		Uncertain significance
(Dec 13, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:156105094
GRCh38:
Chr1:156135303
LMNACardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not specified,
Cardiomyopathy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan typeCharcot-Marie-Tooth disease type 2B1,
Heart-hand syndrome, Slovenian type, Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Likely benign
(Sep 24, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:156106818
GRCh38:
Chr1:156137027
LMNAT496M, T384M, T415MLipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease type 2, 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, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Lethal tight skin contracture syndrome, Hutchinson-Gilford syndromeMandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Cardiovascular phenotype, not provided,
Emery-Dreifuss muscular dystrophy, Cardiomyopathy, Lethal tight skin contracture syndrome,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Congenital muscular dystrophy due to LMNA mutation, 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,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome,
Restrictive dermopathy 2, Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Conflicting interpretations of pathogenicity
(Sep 17, 2022)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr1:156084870
GRCh38:
Chr1:156115079
LMNAT54MCharcot-Marie-Tooth disease type 2, not provided, Cardiomyopathy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathyHeart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, ...see more		Uncertain significance
(Apr 4, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:156106127
GRCh38:
Chr1:156136336
LMNAR427H, R346H, R315HCharcot-Marie-Tooth disease type 2, not provided, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Restrictive dermopathy 2,
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 recessiveDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, ...see more		Uncertain significance
(Jul 29, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:156105746
GRCh38:
Chr1:156135955
LMNAR331W, R250W, R219Wnot provided, Restrictive dermopathy 2, Dilated cardiomyopathy 1A,
Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr1:156106932
GRCh38:
Chr1:156137141
LMNAH506P, H394P, H425PLipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype,
not provided, not specified, Emery-Dreifuss muscular dystrophy,
Cardiomyopathy, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndromeBenign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Congenital muscular dystrophy due to LMNA mutation,
Hypertrophic cardiomyopathy, 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,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome,
Restrictive dermopathy 2, Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:156106102
GRCh38:
Chr1:156136311
LMNAR419C, R307C, R338CCharcot-Marie-Tooth disease type 2, not provided, Cardiomyopathy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathyHeart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, ...see more		Conflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr1:156105910
GRCh38:
Chr1:156136119
LMNACharcot-Marie-Tooth disease type 2, Cardiomyopathy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian typeHutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, ...see more		Likely benign
(Nov 24, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr1:156106153
GRCh38:
Chr1:156136362
LMNAT436A, T355A, T324Anot provided, 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, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Familial partial lipodystrophy, Dunnigan type,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1AMandibuloacral dysplasia with type A lipodystrophy,
Restrictive dermopathy 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2,
not specified, ...see more		Uncertain significance
(Apr 13, 2023)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:156108311
GRCh38:
Chr1:156138520
LMNACharcot-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,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Mandibuloacral dysplasia with type A lipodystrophyRestrictive dermopathy 2,
not specified, Cardiovascular phenotype, Cardiomyopathy,
...see more		Likely benign
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:156104603
GRCh38:
Chr1:156134812
LMNAR216H, R135H, R104HCardiovascular phenotype, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not provided, Cardiomyopathy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Hutchinson-Gilford syndrome, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutationEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
Heart-hand syndrome, Slovenian type, Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2B1,
Mandibuloacral dysplasia with type A lipodystrophy, ...see more		Conflicting interpretations of pathogenicity
(Oct 22, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr1:156108460
GRCh38:
Chr1:156138669
LMNAR597H, R627H, R515H, R419H, R441H, R546H, R528HCharcot-Marie-Tooth disease type 2, not provided, Cardiomyopathy,
Charcot-Marie-Tooth disease type 2B1, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Congenital muscular dystrophy due to LMNA mutation, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan typeMandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Restrictive dermopathy 2, ...see more		Uncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:156106126
GRCh38:
Chr1:156136335
LMNAR427C, R315C, R346CCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not provided,
Cardiomyopathy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Restrictive dermopathy 2,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveHeart-hand syndrome, Slovenian type,
Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy,
...see more		Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:156100517
GRCh38:
Chr1:156130726
LMNA, LOC126805877R156C, R44C, R75CCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Hutchinson-Gilford syndrome, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Heart-hand syndrome, Slovenian type, Familial partial lipodystrophy, Dunnigan typeCharcot-Marie-Tooth disease type 2B1,
Mandibuloacral dysplasia with type A lipodystrophy, ...see more		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:156108354
GRCh38:
Chr1:156138563
LMNAG562R, G592R, G480RCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation,
Restrictive dermopathy 2, 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, Mandibuloacral dysplasia with type A lipodystrophyEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
Familial partial lipodystrophy, Dunnigan type, ...see more		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:156106707
GRCh38:
Chr1:156136916
LMNACharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan type,
Charcot-Marie-Tooth disease type 2B1, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveCongenital muscular dystrophy due to LMNA mutation,
Restrictive dermopathy 2, not provided, Cardiomyopathy,
...see more		Uncertain significance
(Nov 8, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:156106078
GRCh38:
Chr1:156136287
LMNAG411C, G299C, G330CCardiovascular phenotype, not specified, Charcot-Marie-Tooth disease type 2,
not provided, Cardiomyopathy, Heart-hand syndrome, Slovenian type,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Hutchinson-Gilford syndrome, Charcot-Marie-Tooth disease type 2B1Mandibuloacral 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, ...see more		Uncertain significance
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:156100548
GRCh38:
Chr1:156130757
LMNA, LOC126805877R166Q, R85Q, R54QCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not specified,
Cardiomyopathy, not provided, Charcot-Marie-Tooth disease type 2B1,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndromeRestrictive dermopathy 2,
Familial partial lipodystrophy, Dunnigan type, Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr1:156105756
GRCh38:
Chr1:156135965
LMNAS222N, S334N, S253NCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not provided,
Cardiomyopathy, Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type,
Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian typeHutchinson-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
(Sep 24, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:156105799
GRCh38:
Chr1:156136008
LMNAM348I, M267I, M236ICharcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2B1, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Restrictive dermopathy 2, Familial partial lipodystrophy, Dunnigan type,
Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophyEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr1:156104245
GRCh38:
Chr1:156134454
LMNAR189W, R77W, R108WCardiovascular phenotype, not provided, Cardiomyopathy,
Charcot-Marie-Tooth disease type 2, 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,
Charcot-Marie-Tooth disease type 2B1, Restrictive dermopathy 2Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Jun 5, 2023)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:156108549
GRCh38:
Chr1:156138758
LMNARestrictive dermopathy 2, Hutchinson-Gilford syndromePathogenic
(Aug 1, 2015)		no assertion criteria provided
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