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Items: 1 to 100 of 309

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:156105039
GRCh38:
Chr1:156135248
LMNAE105V, E179V, E192V, E210V, E291V, S70CDilated cardiomyopathy 1ALikely pathogenic
(Apr 20, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr2:179477556-179477557
GRCh38:
Chr2:178612829-178612830
TTN-AS1, TTNA14063fs, A14990fs, A16631fs, A7566fs, A7691fs, A7758fsDilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
3.
GRCh37:
Chr1:156106045
GRCh38:
Chr1:156136254
LMNAG301S, G319S, G192S, G214S, G288S, G400SCardiovascular phenotype, Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Restrictive dermopathy 2, Charcot-Marie-Tooth disease type 2B1, Dilated cardiomyopathy 1A,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan typeHutchinson-Gilford syndrome,
...see more		Uncertain significance
(Mar 30, 2021)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:156104616-156104617
GRCh38:
Chr1:156134825-156134826
LMNADilated cardiomyopathy 1ALikely pathogenic
(Nov 30, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr2:179393926
GRCh38:
Chr2:178529199
TTN, TTN-AS1Q26453*, Q26578*, Q26645*, Q32950*, Q33877*, Q35518*Dilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
6.
GRCh37:
Chr17:33496859
GRCh38:
Chr17:35169840
UNC45BL486FDilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
7.
GRCh37:
Chr7:22170705
GRCh38:
Chr7:22131087
RAPGEF5H396Y, H508Y, H811YDilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
8.
GRCh37:
Chr20:50007962
GRCh38:
Chr20:51391425
NFATC2S698A, S897A, S917ADilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
9.
GRCh37:
Chr6:152780016
GRCh38:
Chr6:152458881
SYNE1I815T, I822TDilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
10.
GRCh37:
Chr7:83014612
GRCh38:
Chr7:83385296
SEMA3EE565K, E625KDilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
11.
GRCh37:
Chr1:156108869
GRCh38:
Chr1:156139078
LMNADilated cardiomyopathy 1ALikely pathogenic
(May 4, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr1:156104645
GRCh38:
Chr1:156134854
LMNAD118G, D149G, D230Gnot provided, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Familial partial lipodystrophy, Dunnigan type, Congenital muscular dystrophy due to LMNA mutationCharcot-Marie-Tooth disease type 2B1,
Charcot-Marie-Tooth disease type 2, ...see more		Uncertain significance
(Feb 18, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:156107025
GRCh38:
Chr1:156137234
LMNADilated cardiomyopathy 1ALikely pathogenic
(Mar 22, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr1:156084953
GRCh38:
Chr1:156115162
LMNAE82QFamilial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Mandibuloacral dysplasia with type A lipodystrophy, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Charcot-Marie-Tooth disease type 2B1, Restrictive dermopathy 2Charcot-Marie-Tooth disease type 2,
...see more		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr1:156085065
GRCh38:
Chr1:156115274
LMNAR119LCharcot-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,
Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Restrictive dermopathy 2, Charcot-Marie-Tooth disease type 2B1Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
...see more		Uncertain significance
(Oct 16, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:156104988
GRCh38:
Chr1:156135197
LMNAR275fs, R194fs, R163fsCharcot-Marie-Tooth disease type 2, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Restrictive dermopathy 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 syndromeEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Pathogenic/Likely pathogenic
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:156105045
GRCh38:
Chr1:156135254
LMNAQ212L, Q181L, Q293LCharcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Familial partial lipodystrophy, Dunnigan type,
Congenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeDilated cardiomyopathy 1A,
...see more		Uncertain significance
(Oct 19, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:156084756
GRCh38:
Chr1:156114965
LMNAA16DFamilial partial lipodystrophy, Dunnigan type, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Restrictive dermopathy 2,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1, Heart-hand syndrome, Slovenian type,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Mandibuloacral dysplasia with type A lipodystrophyCharcot-Marie-Tooth disease type 2,
...see more		Uncertain significance
(Nov 15, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:156107480-156107481
GRCh38:
Chr1:156137689-156137690
LMNAV437fs, V468fs, V549fsCardiomyopathy, Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy,
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 type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2Congenital muscular dystrophy due to LMNA mutation,
...see more		Likely pathogenic
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:156084877
GRCh38:
Chr1:156115086
LMNAN56KCongenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Familial partial lipodystrophy, Dunnigan type, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Hutchinson-Gilford syndrome		Likely pathogeniccriteria provided, single submitter
21.
GRCh37:
Chr1:156105695
GRCh38:
Chr1:156135904
LMNAA202T, A233T, A314TCardiomyopathy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2B1,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Familial partial lipodystrophy, Dunnigan type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophyCongenital muscular dystrophy due to LMNA mutation,
Restrictive dermopathy 2, ...see more		Uncertain significance
(Sep 24, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:156108292
GRCh38:
Chr1:156138501
LMNAS459N, S541N, S571NDilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Cardiomyopathy
Uncertain significance
(Jul 8, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:156084780
GRCh38:
Chr1:156114989
LMNAT24ICharcot-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,
Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Congenital muscular dystrophy due to LMNA mutation,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A ...see more		Uncertain significance
(Apr 22, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr1:156107016
GRCh38:
Chr1:156137225
LMNAT422S, T453S, T534SCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not provided,
Cardiomyopathy, 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,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophyRestrictive dermopathy 2,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Jun 19, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:156100518
GRCh38:
Chr1:156130727
LOC126805877, LMNAR156H, R44H, R75HCardiovascular phenotype, Cardiomyopathy, not provided,
Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 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 typeHutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan type, Restrictive dermopathy 2,
...see more		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:156105747
GRCh38:
Chr1:156135956
LMNAR219L, R250L, R331LDilated cardiomyopathy 1ALikely pathogenic
(Apr 27, 2021)		no assertion criteria provided
27.
GRCh37:
Chr1:156108873
GRCh38:
Chr1:156139082
LMNAS545R, S607R, S627R, S657REmery-Dreifuss muscular dystrophy 3, autosomal recessive, Restrictive dermopathy 2, Familial partial lipodystrophy, Dunnigan type,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, 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,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutationCharcot-Marie-Tooth disease type 2,
...see more		Uncertain significance
(Mar 17, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:156105057
GRCh38:
Chr1:156135266
LMNAI216N, I297N, I185NDilated cardiomyopathy 1AUncertain significance
(Sep 5, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr1:156104783
GRCh38:
Chr1:156134992
LMNADilated cardiomyopathy 1AUncertain significance
(Mar 11, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr1:156084896
GRCh38:
Chr1:156115105
LMNAI63LCharcot-Marie-Tooth disease type 2, not specified, Hutchinson-Gilford syndrome,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Charcot-Marie-Tooth disease type 2B1, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveMandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Restrictive dermopathy 2, ...see more		Uncertain significance
(Jan 18, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:156084842
GRCh38:
Chr1:156115051
LMNAY45HDilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutationUncertain significance
(Jan 17, 2020)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:156107491
GRCh38:
Chr1:156137700
LMNAD440A, D471A, D552AHeart-hand syndrome, Slovenian type, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Restrictive dermopathy 2, Hutchinson-Gilford syndrome,
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 lipodystrophyCharcot-Marie-Tooth disease type 2,
...see more		Uncertain significance
(Jan 20, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
ChrX:153648561
GRCh38:
ChrX:154420222
TAFAZZIND175E, D189E, D205E, D219E, D223E3-Methylglutaconic aciduria type 2, Dilated cardiomyopathy 1AUncertain significance
(May 27, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
ChrX:153607863
GRCh38:
ChrX:154379503
EMDL7FDilated cardiomyopathy 1AUncertain significance
(Oct 21, 2019)		criteria provided, single submitter
35.
GRCh37:
Chr1:78390885
GRCh38:
Chr1:77925200
NEXNN154D, N90DDilated cardiomyopathy 1AUncertain significance
(Jan 23, 2020)		criteria provided, single submitter
36.
GRCh37:
Chr1:78398986
GRCh38:
Chr1:77933301
NEXNP294L, P358LHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype,
not provided, Dilated cardiomyopathy 1A		Uncertain significance
(Feb 10, 2023)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:78408181
GRCh38:
Chr1:77942496
NEXNI501M, I565MDilated cardiomyopathy 1AUncertain significance
(Nov 14, 2019)		criteria provided, single submitter
38.
GRCh37:
Chr10:69905256
GRCh38:
Chr10:68145499
MYPNG368D, G74DCardiovascular phenotype, Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1A,
not provided		Uncertain significance
(Nov 8, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
ChrX:31947778
GRCh38:
ChrX:31929661
DMDI2160V, I2275V, I2279V, I2283V, I939V, I942VDuchenne muscular dystrophy, Cardiovascular phenotype, not provided,
Dilated cardiomyopathy 1A		Conflicting interpretations of pathogenicity
(Sep 19, 2022)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr2:179411961
GRCh38:
Chr2:178547234
TTN-AS1, TTNE22366*, E22491*, E22558*, E28863*, E29790*, E31431*Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Cardiovascular phenotype,
Dilated cardiomyopathy 1A		Pathogenic/Likely pathogenic
(Sep 20, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr2:179447293
GRCh38:
Chr2:178582566
TTN, TTN-AS1K12899*, K13024*, K13091*, K19396*, K20323*, K21964*Dilated cardiomyopathy 1APathogenic
(Mar 19, 2020)		criteria provided, single submitter
42.
GRCh37:
Chr2:179442330
GRCh38:
Chr2:178577603
TTN, TTN-AS1Y13876*, Y14001*, Y14068*, Y20373*, Y21300*, Y22941*Dilated cardiomyopathy 1APathogenic
(Mar 9, 2020)		criteria provided, single submitter
43.
GRCh37:
Chr6:7583838-7583841
GRCh38:
Chr6:7583605-7583608
DSPD1518fs, D1674fs, D2117fsDilated cardiomyopathy 1ALikely pathogenic
(Feb 29, 2020)		criteria provided, single submitter
44.
GRCh37:
Chr6:7585345
GRCh38:
Chr6:7585112
DSPS2018N, S2174N, S2617NDilated cardiomyopathy 1AUncertain significance
(Aug 6, 2019)		criteria provided, single submitter
45.
GRCh37:
Chr1:236889247
GRCh38:
Chr1:236725947
ACTN2E155KDilated cardiomyopathy 1AUncertain significance
(Dec 12, 2019)		criteria provided, single submitter
46.
GRCh37:
Chr15:35083451
GRCh38:
Chr15:34791250
ACTC1, GJD2-DTM285KDilated cardiomyopathy 1A, Dilated cardiomyopathy 1R, Atrial septal defect 5,
Hypertrophic cardiomyopathy 11		Uncertain significance
(Dec 1, 2021)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:35084770
GRCh38:
Chr15:34792569
ACTC1, GJD2-DTG152DDilated cardiomyopathy 1AUncertain significance
(Jun 3, 2019)		criteria provided, single submitter
48.
GRCh37:
Chr10:121431827-121431836
GRCh38:
Chr10:119672315-119672324
BAG3S190fsDilated cardiomyopathy 1ALikely pathogenic
(Apr 18, 2020)		criteria provided, single submitter
49.
GRCh37:
Chr10:69934325
GRCh38:
Chr10:68174568
MYPNP532T, P826TDilated cardiomyopathy 1AUncertain significance
(Sep 24, 2019)		criteria provided, single submitter
50.
GRCh37:
Chr2:179439418-179439419
GRCh38:
Chr2:178574691-178574692
TTN, TTN-AS1T14749fs, T14874fs, T14941fs, T21246fs, T22173fs, T23814fsDilated cardiomyopathy 1APathogenic
(Apr 22, 2019)		criteria provided, single submitter
51.
GRCh37:
Chr18:29126117
GRCh38:
Chr18:31546154
DSG2, DSG2-AS1P923RDilated cardiomyopathy 1A, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Arrhythmogenic right ventricular dysplasia 10		Uncertain significance
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr18:28660301
GRCh38:
Chr18:31080335
DSC2E427DDilated cardiomyopathy 1A, Arrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jun 5, 2019)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:156084902
GRCh38:
Chr1:156115111
LMNAE65QDilated cardiomyopathy 1AUncertain significance
(Dec 19, 2017)		criteria provided, single submitter
54.
GRCh37:
Chr1:156106081
GRCh38:
Chr1:156136290
LMNAG300W, G412W, G331WCharcot-Marie-Tooth disease type 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Restrictive dermopathy 2,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveFamilial partial lipodystrophy, Dunnigan type,
Cardiovascular phenotype, ...see more		Uncertain significance
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:156106134
GRCh38:
Chr1:156136343
LMNAS317R, S429R, S348REmery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Hutchinson-Gilford syndromeCharcot-Marie-Tooth disease type 2,
...see more		Uncertain significance
(Mar 29, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:156104627
GRCh38:
Chr1:156134836
LMNAT112I, T143I, T224ICharcot-Marie-Tooth disease type 2Uncertain significance
(Jun 20, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr1:156106129
GRCh38:
Chr1:156136338
LMNAS316G, S347G, S428GFamilial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Hutchinson-Gilford syndrome, Restrictive dermopathy 2Charcot-Marie-Tooth disease type 2,
...see more		Uncertain significance
(Feb 7, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:156106819
GRCh38:
Chr1:156137028
LMNADilated cardiomyopathy 1AUncertain significance
(Jan 30, 2020)		criteria provided, single submitter
59.
GRCh37:
Chr1:156107514
GRCh38:
Chr1:156137723
LMNAD448N, D479N, D560NDilated cardiomyopathy 1AUncertain significance
(Nov 8, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr1:156106084
GRCh38:
Chr1:156136293
LMNAG301C, G332C, G413CCharcot-Marie-Tooth disease type 2, Familial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Charcot-Marie-Tooth disease type 2B1, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Congenital muscular dystrophy due to LMNA mutation, Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Hutchinson-Gilford syndrome, Dilated cardiomyopathy 1AMandibuloacral dysplasia with type A lipodystrophy,
not specified, ...see more		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:156106816
GRCh38:
Chr1:156137025
LMNACharcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveCardiomyopathy,
...see more		Likely benign
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:156106211
GRCh38:
Chr1:156136420
LMNAR343H, R374H, R455HCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Familial partial lipodystrophy, Dunnigan type,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1, Heart-hand syndrome, Slovenian type,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Congenital muscular dystrophy due to LMNA mutation, Restrictive dermopathy 2,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Hutchinson-Gilford syndromeDilated cardiomyopathy 1A,
Mandibuloacral dysplasia with type A lipodystrophy, Cardiomyopathy, ...see more		Uncertain significance
(Oct 20, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:156106133
GRCh38:
Chr1:156136342
LMNAS429N, S348N, S317NFamilial partial lipodystrophy, Dunnigan type, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Congenital muscular dystrophy due to LMNA mutation,
Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Hutchinson-Gilford syndrome,
Dilated cardiomyopathy 1A, Mandibuloacral dysplasia with type A lipodystrophyCharcot-Marie-Tooth disease type 2,
Cardiomyopathy, ...see more		Uncertain significance
(Nov 9, 2021)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:156085002
GRCh38:
Chr1:156115211
LMNAE98GCharcot-Marie-Tooth disease type 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, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveRestrictive dermopathy 2,
Cardiomyopathy, ...see more		Uncertain significance
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:156108270
GRCh38:
Chr1:156138479
LMNACardiomyopathy, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype,
Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Heart-hand syndrome, Slovenian type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Restrictive dermopathy 2Hutchinson-Gilford syndrome,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, ...see more		Likely benign
(Nov 28, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:156100420
GRCh38:
Chr1:156130629
LMNA, LOC126805877Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Hutchinson-Gilford syndrome, Restrictive dermopathy 2Familial partial lipodystrophy, Dunnigan type,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Cardiomyopathy, ...see more		Likely benign
(Jan 7, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:156105761
GRCh38:
Chr1:156135970
LMNAR255W, R336W, R224WCharcot-Marie-Tooth disease type 2, Cardiomyopathy, 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,
Mandibuloacral dysplasia with type A lipodystrophy, Congenital muscular dystrophy due to LMNA mutationEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
Restrictive dermopathy 2, ...see more		Uncertain significance
(Sep 20, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:156108272
GRCh38:
Chr1:156138481
LMNACharcot-Marie-Tooth disease type 2, not provided, Cardiomyopathy,
Dilated cardiomyopathy 1A		Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr1:156105732
GRCh38:
Chr1:156135941
LMNAS326L, S214L, S245LCardiovascular phenotype, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Familial partial lipodystrophy, Dunnigan type, 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,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophyEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
not provided, Charcot-Marie-Tooth disease type 2, Cardiomyopathy,
...see more		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:156100562
GRCh38:
Chr1:156130771
LMNA, LOC126805877K171E, K90E, K59ECharcot-Marie-Tooth disease type 2, Cardiomyopathy, Hutchinson-Gilford syndrome,
Mandibuloacral dysplasia with type A lipodystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Familial partial lipodystrophy, Dunnigan type, Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2Charcot-Marie-Tooth disease type 2B1,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:156108563-156108564
GRCh38:
Chr1:156138772-156138773
LMNACharcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 2,
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 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Hutchinson-Gilford syndromeFamilial partial lipodystrophy, Dunnigan type,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Benign/Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:156106888
GRCh38:
Chr1:156137097
LMNAnot provided, Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Heart-hand syndrome, Slovenian type,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1AEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, not specified,
...see more		Benign/Likely benign
(Dec 17, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:156106185
GRCh38:
Chr1:156136394
LMNAD334E, D446E, D365ECardiomyopathy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
Emery-Dreifuss muscular dystrophy, Lethal tight skin contracture syndrome, Hutchinson-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 ...see more		Uncertain significance
(Feb 21, 2020)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:156085077
GRCh38:
Chr1:156115286
LMNABenign scapuloperoneal muscular dystrophy with cardiomyopathy, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Emery-Dreifuss muscular dystrophy,
Lethal tight skin contracture syndrome, Hutchinson-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		Uncertain significance
(Feb 2, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr1:156107617
GRCh38:
Chr1:156137826
LMNAFamilial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1,
Hutchinson-Gilford syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr1:156084487
GRCh38:
Chr1:156114696
LMNAMandibuloacral 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,
Familial partial lipodystrophy, Dunnigan type, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, not provided ...see more		Conflicting interpretations of pathogenicity
(Aug 3, 2018)		criteria provided, conflicting interpretations
77.
GRCh37:
Chr1:156104752
GRCh38:
Chr1:156134961
LMNAT154A, T266A, T185ALethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy, Congenital 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,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr1:156084666
GRCh38:
Chr1:156114875
LMNALethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy, Congenital 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,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
79.
GRCh37:
Chr1:156107551
GRCh38:
Chr1:156137760
LMNAR491H, R572Hnot provided, Mandibuloacral dysplasia with type A lipodystrophy, Congenital muscular dystrophy due to LMNA mutation,
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 type, Hutchinson-Gilford syndromeEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Mar 8, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:156084981
GRCh38:
Chr1:156115190
LMNAT91ICharcot-Marie-Tooth disease type 2, 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, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Restrictive dermopathy 2,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1AHutchinson-Gilford syndrome,
not provided, ...see more		Uncertain significance
(Dec 14, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:38622831
GRCh38:
Chr3:38581340
LOC110121269, SCN5AS940NDilated cardiomyopathy 1A, Cardiac arrhythmia, Brugada syndrome
Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:156104648
GRCh38:
Chr1:156134857
LMNAN150S, N231S, N119SCharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Cardiomyopathy,
Dilated cardiomyopathy 1A, not provided, Congenital muscular dystrophy due to LMNA mutation,
Restrictive dermopathy 2, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2B1Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Mandibuloacral dysplasia with type A lipodystrophy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type, ...see more		Uncertain significance
(Aug 27, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:156085035
GRCh38:
Chr1:156115244
LMNAV109EMandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveCharcot-Marie-Tooth disease type 2,
...see more		Uncertain significance
(Nov 11, 2021)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr19:55668447
GRCh38:
Chr19:55157079
TNNI3R27CCardiovascular phenotype, Hypertrophic cardiomyopathyUncertain significance
(May 17, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr14:23854136
GRCh38:
Chr14:23384927
MYH6A1760TDilated cardiomyopathy 1A, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype,
Atrial septal defect 3, Sick sinus syndrome 3, susceptibility to, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, not provided
Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:156106147
GRCh38:
Chr1:156136356
LMNAA353T, A322T, A434TCharcot-Marie-Tooth disease type 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Charcot-Marie-Tooth disease type 2B1, Congenital muscular dystrophy due to LMNA mutationFamilial partial lipodystrophy, Dunnigan type,
...see more		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr1:156084789
GRCh38:
Chr1:156114998
LMNAT27IDilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutationLikely pathogenic
(Sep 12, 2019)		criteria provided, single submitter
88.
GRCh37:
Chr1:156105687
GRCh38:
Chr1:156135896
LMNACharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Cardiomyopathy,
Dilated cardiomyopathy 1A		Conflicting interpretations of pathogenicity
(Nov 29, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr1:156106706
GRCh38:
Chr1:156136915
LMNACharcot-Marie-Tooth disease type 2, 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, Charcot-Marie-Tooth disease type 2B1,
Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan typeMandibuloacral dysplasia with type A lipodystrophy,
...see more		Likely benign
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr8:19805714
GRCh38:
Chr8:19948203
LPLE38Knot specified, Cardiovascular phenotype, not provided,
Hyperlipoproteinemia, type I		Conflicting interpretations of pathogenicity
(Nov 30, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr1:156106826
GRCh38:
Chr1:156137035
LMNACharcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan type,
Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveHeart-hand syndrome, Slovenian type,
Congenital muscular dystrophy due to LMNA mutation, ...see more		Likely benign
(Feb 22, 2023)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:156106074
GRCh38:
Chr1:156136283
LMNALethal tight skin contracture syndrome, Cardiomyopathy, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
Charcot-Marie-Tooth disease type 2, not provided, Emery-Dreifuss muscular dystrophy,
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 cardiomyopathyDilated cardiomyopathy 1A,
Familial partial lipodystrophy, Dunnigan type, ...see more		Conflicting interpretations of pathogenicity
(Oct 7, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr1:156100526
GRCh38:
Chr1:156130735
LMNA, LOC126805877E159*, E47*, E78*Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1APathogenic
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
ChrX:32481569
GRCh38:
ChrX:32463452
DMDH1017L, H1132L, H1136L, H1140LCardiovascular phenotype, not provided, Dilated cardiomyopathy 1A,
Duchenne muscular dystrophy		Conflicting interpretations of pathogenicity
(Apr 14, 2021)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr1:156106979
GRCh38:
Chr1:156137188
LMNAC410R, C441R, C522RDilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome		not providedno assertion provided
96.
GRCh37:
Chr1:156106245
GRCh38:
Chr1:156136454
LMNAnot provided, Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2Hutchinson-Gilford syndrome,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Likely benign
(Dec 23, 2021)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:156105782
GRCh38:
Chr1:156135991
LMNAR231W, R262W, R343WHutchinson-Gilford syndrome, 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 lipodystrophy,
Charcot-Marie-Tooth disease, Emery-Dreifuss muscular dystrophy, Charcot-Marie-Tooth disease type 2B1,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Cardiovascular phenotypeCharcot-Marie-Tooth disease type 2,
not provided, Cardiomyopathy, not specified,
Lethal tight skin contracture syndrome, 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, Charcot-Marie-Tooth disease type 2B1,
Heart-hand syndrome, Slovenian type, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
...see more		Uncertain significance
(Nov 25, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr10:112581366
GRCh38:
Chr10:110821608
RBM20V997MDilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1A
Conflicting interpretations of pathogenicity
(Sep 14, 2022)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr1:156105053
GRCh38:
Chr1:156135262
LMNAR184C, R215C, R296CCharcot-Marie-Tooth disease type 2, 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 type,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophyEmery-Dreifuss muscular dystrophy 3, autosomal recessive,
Congenital muscular dystrophy due to LMNA mutation, ...see more		Uncertain significance
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:156108324
GRCh38:
Chr1:156138533
LMNAR470C, R552C, R582CCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not provided,
Dilated cardiomyopathy 1A		Conflicting interpretations of pathogenicity
(Aug 3, 2022)		criteria provided, conflicting interpretations
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