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Items: 1 to 100 of 206

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:156085040
GRCh38:
Chr1:156115249
LMNAE111KHutchinson-Gilford syndromeLikely pathogenic
(Jun 30, 2023)
criteria provided, single submitter
2.
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
3.
GRCh37:
Chr1:156104740
GRCh38:
Chr1:156134949
LMNAE150K, E181K, E262KHutchinson-Gilford syndromeLikely pathogeniccriteria provided, single submitter
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
GRCh37:
Chr1:156084873
GRCh38:
Chr1:156115082
LMNAE55GHutchinson-Gilford syndromeLikely pathogenic
(Nov 1, 2021)
criteria provided, single submitter
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
GRCh37:
Chr1:156105689
GRCh38:
Chr1:156135898
LMNAHutchinson-Gilford syndromeUncertain significance
(Aug 8, 2018)
criteria provided, single submitter
21.
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
22.
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
23.
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
24.
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
25.
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
26.
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
27.
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
28.
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
29.
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
30.
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
31.
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
32.
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
33.
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
34.
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
35.
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
36.
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
37.
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
38.
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
39.
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
40.
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
41.
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
42.
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
43.
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
44.
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
45.
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
46.
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
47.
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
48.
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
49.
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
50.
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
51.
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
52.
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
53.
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
54.
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
55.
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
56.
GRCh37:
Chr16:14017229-14022884
GRCh38:
Chr16:13923372-13929027
ERCC4XFE progeroid syndrome, Hutchinson-Gilford syndrome, not provided
Pathogenic/Likely pathogenic
(Apr 4, 2019)
no assertion criteria provided
57.
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
58.
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
59.
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
60.
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
61.
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
62.
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
63.
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
64.
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
65.
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
66.
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
67.
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
68.
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
69.
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
70.
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
71.
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
72.
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
73.
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
74.
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
75.
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
76.
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
77.
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
78.
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
79.
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
80.
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
81.
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
82.
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
83.
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
84.
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
85.
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
86.
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
87.
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
88.
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
89.
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
90.
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
91.
GRCh37:
Chr1:156105931
GRCh38:
Chr1:156136140
LMNAnot provided, not specified, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan typeMandibuloacral dysplasia with type A lipodystrophy,
Restrictive dermopathy 2, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
...see more
Likely benign
(Apr 17, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:156108437
GRCh38:
Chr1:156138646
LMNACharcot-Marie-Tooth disease, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Heart-hand syndrome, Slovenian type,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Restrictive dermopathy 2Familial partial lipodystrophy, Dunnigan type,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Hutchinson-Gilford syndrome, not specified,
Cardiomyopathy, ...see more
Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
93.
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
94.
GRCh37:
Chr1:156107658
GRCh38:
Chr1:156137867
LMNACongenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy,
Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia, Lethal tight skin contracture syndrome,
Limb-Girdle Muscular Dystrophy, Recessive, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Dilated Cardiomyopathy, Dominant,
Familial partial lipodystrophy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr1:156107591
GRCh38:
Chr1:156137800
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy 1A,
Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome, Benign scapuloperoneal muscular dystrophy with cardiomyopathy ...see more
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr1:156106819
GRCh38:
Chr1:156137028
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, not specified,
not provided, Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy,
Familial partial lipodystrophy, Dunnigan type, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndromeEmery-Dreifuss muscular dystrophy,
Congenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Cardiomyopathy, ...see more
Conflicting interpretations of pathogenicity
(Mar 14, 2023)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr1:156105740
GRCh38:
Chr1:156135949
LMNAR329S, R217S, R248SDilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
not specified, Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2,
Mandibuloacral dysplasia, Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutationFamilial partial lipodystrophy,
...see more
Uncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:156105115
GRCh38:
Chr1:156135324
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive,
not specified, Cardiovascular phenotype, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutationFamilial partial lipodystrophy,
Hutchinson-Gilford syndrome, ...see more
Conflicting interpretations of pathogenicity
(Dec 16, 2022)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr1:156104183
GRCh38:
Chr1:156134392
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, not provided,
Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type,
Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutationBenign scapuloperoneal muscular dystrophy with cardiomyopathy,
Hutchinson-Gilford syndrome, ...see more
Conflicting interpretations of pathogenicity
(May 28, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr1:156085004
GRCh38:
Chr1:156115213
LMNAR99SLimb-Girdle Muscular Dystrophy, Recessive, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy, not provided,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Primary dilated cardiomyopathy,
Lethal tight skin contracture syndrome, Hutchinson-Gilford syndromeMandibuloacral dysplasia with type A lipodystrophy,
Familial partial lipodystrophy, Dunnigan type, ...see more
Conflicting interpretations of pathogenicity
(Nov 14, 2022)
criteria provided, conflicting interpretations
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