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Items: 1 to 100 of 315

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:156107477
GRCh38:
Chr1:156137686
LMNAT340fs, T362fs, T436fs, T449fs, T467fs, T548fsDilated cardiomyopathy 1APathogenic
(Jan 27, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr1:156100452
GRCh38:
Chr1:156130661
LMNA, LOC126805877L134P, L22P, L35P, L53PDilated cardiomyopathy 1ALikely pathogenic
(Jun 1, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr1:156105724-156105726
GRCh38:
Chr1:156135933-156135935
LMNAE116del, E138del, E212del, E225del, E243del, E324delDilated cardiomyopathy 1AUncertain significance
(Jun 1, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr1:156104627
GRCh38:
Chr1:156134836
LMNAD4fs, R113fs, R126fs, R144fs, R225fs, R39fsDilated cardiomyopathy 1ALikely pathogenic
(Jun 1, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr1:156105039
GRCh38:
Chr1:156135248
LMNAE105V, E179V, E192V, E210V, E291V, S70CDilated cardiomyopathy 1ALikely pathogenic
(Apr 20, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr2:179477556-179477557
GRCh38:
Chr2:178612829-178612830
TTN-AS1, TTNA14063fs, A14990fs, A16631fs, A7566fs, A7691fs, A7758fsDilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
7.
GRCh37:
Chr1:156106045
GRCh38:
Chr1:156136254
LMNAG301S, G319S, G192S, G214S, G288S, G400SCardiovascular phenotype, Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy,
Familial partial lipodystrophy, Dunnigan type, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Restrictive dermopathy 2, Hutchinson-Gilford syndromeDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
...see more
Uncertain significance
(Mar 30, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:156104616-156104617
GRCh38:
Chr1:156134825-156134826
LMNADilated cardiomyopathy 1ALikely pathogenic
(Nov 30, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr2:179393926
GRCh38:
Chr2:178529199
TTN, TTN-AS1Q26453*, Q26578*, Q26645*, Q32950*, Q33877*, Q35518*Dilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
10.
GRCh37:
Chr17:33496859
GRCh38:
Chr17:35169840
UNC45BL486FDilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
11.
GRCh37:
Chr7:22170705
GRCh38:
Chr7:22131087
RAPGEF5H396Y, H508Y, H811YDilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
12.
GRCh37:
Chr20:50007962
GRCh38:
Chr20:51391425
NFATC2S698A, S897A, S917ADilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
13.
GRCh37:
Chr6:152780016
GRCh38:
Chr6:152458881
SYNE1I815T, I822TDilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
14.
GRCh37:
Chr7:83014612
GRCh38:
Chr7:83385296
SEMA3EE565K, E625KDilated cardiomyopathy 1ALikely pathogenicno assertion criteria provided
15.
GRCh37:
Chr1:156108869
GRCh38:
Chr1:156139078
LMNADilated cardiomyopathy 1ALikely pathogenic
(May 4, 2022)
criteria provided, single submitter
16.
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
17.
GRCh37:
Chr1:156107025
GRCh38:
Chr1:156137234
LMNADilated cardiomyopathy 1ALikely pathogenic
(Mar 22, 2022)
criteria provided, single submitter
18.
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
19.
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
20.
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
21.
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
22.
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
23.
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
24.
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
25.
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
26.
GRCh37:
Chr1:156100421
GRCh38:
Chr1:156130630
LMNA, LOC126805877E124K, E12K, E43KCardiomyopathy, Dilated cardiomyopathy 1AConflicting interpretations of pathogenicity
(Jun 1, 2023)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr1:156108292
GRCh38:
Chr1:156138501
LMNAS459N, S541N, S571NCardiomyopathy, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type
Uncertain significance
(Jul 8, 2022)
criteria provided, multiple submitters, no conflicts
28.
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
29.
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
30.
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
31.
GRCh37:
Chr1:156105747
GRCh38:
Chr1:156135956
LMNAR219L, R250L, R331LDilated cardiomyopathy 1ALikely pathogenic
(Apr 27, 2021)
no assertion criteria provided
32.
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
33.
GRCh37:
Chr1:156105057
GRCh38:
Chr1:156135266
LMNAI216N, I297N, I185NDilated cardiomyopathy 1AUncertain significance
(Sep 5, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr1:156104783
GRCh38:
Chr1:156134992
LMNADilated cardiomyopathy 1AUncertain significance
(Mar 11, 2018)
criteria provided, single submitter
35.
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
36.
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
37.
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
38.
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
39.
GRCh37:
ChrX:153607863
GRCh38:
ChrX:154379503
EMDL7FDilated cardiomyopathy 1AUncertain significance
(Oct 21, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr1:78390885
GRCh38:
Chr1:77925200
NEXNN154D, N90DDilated cardiomyopathy 1AUncertain significance
(Jan 23, 2020)
criteria provided, single submitter
41.
GRCh37:
Chr1:78398986
GRCh38:
Chr1:77933301
NEXNP294L, P358Lnot provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 20,
Dilated cardiomyopathy 1CC, Dilated cardiomyopathy 1A
Uncertain significance
(Feb 10, 2023)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:78408181
GRCh38:
Chr1:77942496
NEXNI501M, I565MDilated cardiomyopathy 1AUncertain significance
(Nov 14, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr10:69905256
GRCh38:
Chr10:68145499
MYPNG368D, G74Dnot provided, Cardiovascular phenotype, Dilated cardiomyopathy 1KK,
Dilated cardiomyopathy 1A
Uncertain significance
(Nov 8, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
ChrX:31947778
GRCh38:
ChrX:31929661
DMDI2160V, I2275V, I2279V, I2283V, I939V, I942Vnot provided, Cardiovascular phenotype, Dilated cardiomyopathy 1A,
Duchenne muscular dystrophy
Conflicting interpretations of pathogenicity
(Sep 19, 2022)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr2:179411961
GRCh38:
Chr2:178547234
TTN, TTN-AS1E22366*, E22491*, E22558*, E28863*, E29790*, E31431*Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1A
Pathogenic/Likely pathogenic
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr2:179447293
GRCh38:
Chr2:178582566
TTN, TTN-AS1K12899*, K13024*, K13091*, K19396*, K20323*, K21964*Dilated cardiomyopathy 1APathogenic
(Mar 19, 2020)
criteria provided, single submitter
47.
GRCh37:
Chr2:179442330
GRCh38:
Chr2:178577603
TTN, TTN-AS1Y13876*, Y14001*, Y14068*, Y20373*, Y21300*, Y22941*Dilated cardiomyopathy 1APathogenic
(Mar 9, 2020)
criteria provided, single submitter
48.
GRCh37:
Chr6:7583838-7583841
GRCh38:
Chr6:7583605-7583608
DSPD1518fs, D1674fs, D2117fsDilated cardiomyopathy 1ALikely pathogenic
(Feb 29, 2020)
criteria provided, single submitter
49.
GRCh37:
Chr6:7585345
GRCh38:
Chr6:7585112
DSPS2018N, S2174N, S2617NDilated cardiomyopathy 1AUncertain significance
(Aug 6, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr1:236889247
GRCh38:
Chr1:236725947
ACTN2E155KDilated cardiomyopathy 1AUncertain significance
(Dec 12, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr15:35083451
GRCh38:
Chr15:34791250
ACTC1, GJD2-DTM285KDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1A
Uncertain significance
(Dec 1, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr15:35084770
GRCh38:
Chr15:34792569
ACTC1, GJD2-DTG152DDilated cardiomyopathy 1AUncertain significance
(Jun 3, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr10:121431827-121431836
GRCh38:
Chr10:119672315-119672324
BAG3S190fsDilated cardiomyopathy 1ALikely pathogenic
(Apr 18, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr10:69934325
GRCh38:
Chr10:68174568
MYPNP532T, P826TDilated cardiomyopathy 1AUncertain significance
(Sep 24, 2019)
criteria provided, single submitter
55.
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
56.
GRCh37:
Chr18:29126117
GRCh38:
Chr18:31546154
DSG2-AS1, DSG2P923RDilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1A,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Apr 22, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr18:28660301
GRCh38:
Chr18:31080335
DSC2E427DDilated cardiomyopathy 1A, Arrhythmogenic right ventricular dysplasia 11Uncertain significance
(Jun 5, 2019)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:156084902
GRCh38:
Chr1:156115111
LMNAE65QDilated cardiomyopathy 1AUncertain significance
(Dec 19, 2017)
criteria provided, single submitter
59.
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
60.
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
61.
GRCh37:
Chr1:156104627
GRCh38:
Chr1:156134836
LMNAT112I, T143I, T224ICharcot-Marie-Tooth disease type 2Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
62.
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
63.
GRCh37:
Chr1:156106819
GRCh38:
Chr1:156137028
LMNADilated cardiomyopathy 1AUncertain significance
(Jan 30, 2020)
criteria provided, single submitter
64.
GRCh37:
Chr1:156107514
GRCh38:
Chr1:156137723
LMNAD448N, D479N, D560NDilated cardiomyopathy 1AUncertain significance
(Nov 8, 2018)
criteria provided, single submitter
65.
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
66.
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
67.
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
68.
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
69.
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
70.
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
71.
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
72.
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
73.
GRCh37:
Chr1:156108272
GRCh38:
Chr1:156138481
LMNADilated cardiomyopathy 1A, not provided, Cardiomyopathy,
Charcot-Marie-Tooth disease type 2
Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
74.
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
75.
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
76.
GRCh37:
Chr1:156108563-156108564
GRCh38:
Chr1:156138772-156138773
LMNAnot provided, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophyCongenital muscular dystrophy due to LMNA mutation,
Restrictive dermopathy 2, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more
Benign/Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
77.
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
78.
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
79.
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
80.
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
81.
GRCh37:
Chr1:156084487
GRCh38:
Chr1:156114696
LMNAEmery-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, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules ...see more
Conflicting interpretations of pathogenicity
(Aug 3, 2018)
criteria provided, conflicting interpretations
82.
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
83.
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
84.
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
85.
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
86.
GRCh37:
Chr3:38622831
GRCh38:
Chr3:38581340
LOC110121269, SCN5AS940NBrugada syndrome, Dilated cardiomyopathy 1A, Cardiac arrhythmia
Uncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
87.
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
88.
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
89.
GRCh37:
Chr19:55668447
GRCh38:
Chr19:55157079
TNNI3R27CCardiovascular phenotype, Hypertrophic cardiomyopathyUncertain significance
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr14:23854136
GRCh38:
Chr14:23384927
MYH6A1760THypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14,
Sick sinus syndrome 3, susceptibility to, Atrial septal defect 3, not provided,
Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Dilated cardiomyopathy 1A
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:156106147
GRCh38:
Chr1:156136356
LMNAA353T, A322T, A434TCharcot-Marie-Tooth disease type 2B1, 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 1A,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Restrictive dermopathy 2Charcot-Marie-Tooth disease type 2,
...see more
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:156084789
GRCh38:
Chr1:156114998
LMNAT27IDilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutationLikely pathogenic
(Sep 12, 2019)
criteria provided, single submitter
93.
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
94.
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
95.
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
96.
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
97.
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
98.
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
99.
GRCh37:
ChrX:32481569
GRCh38:
ChrX:32463452
DMDH1017L, H1132L, H1136L, H1140LCardiovascular phenotype, Duchenne muscular dystrophy, Dilated cardiomyopathy 1A,
not provided
Conflicting interpretations of pathogenicity
(Apr 14, 2021)
criteria provided, conflicting interpretations
100.
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
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