| - GRCh37:
- Chr1:156105039
- GRCh38:
- Chr1:156135248
| LMNA | E105V, E179V, E192V, E210V, E291V, S70C | Dilated cardiomyopathy 1A | Likely pathogenic (Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179477556-179477557
- GRCh38:
- Chr2:178612829-178612830
| TTN-AS1, TTN | A14063fs, A14990fs, A16631fs, A7566fs, A7691fs, A7758fs | Dilated cardiomyopathy 1A | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:156106045
- GRCh38:
- Chr1:156136254
| LMNA | G301S, G319S, G192S, G214S, G288S, G400S | Cardiovascular 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 |
| - GRCh37:
- Chr1:156104616-156104617
- GRCh38:
- Chr1:156134825-156134826
| LMNA | | Dilated cardiomyopathy 1A | Likely pathogenic (Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179393926
- GRCh38:
- Chr2:178529199
| TTN, TTN-AS1 | Q26453*, Q26578*, Q26645*, Q32950*, Q33877*, Q35518* | Dilated cardiomyopathy 1A | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:33496859
- GRCh38:
- Chr17:35169840
| UNC45B | L486F | Dilated cardiomyopathy 1A | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:22170705
- GRCh38:
- Chr7:22131087
| RAPGEF5 | H396Y, H508Y, H811Y | Dilated cardiomyopathy 1A | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr20:50007962
- GRCh38:
- Chr20:51391425
| NFATC2 | S698A, S897A, S917A | Dilated cardiomyopathy 1A | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:152780016
- GRCh38:
- Chr6:152458881
| SYNE1 | I815T, I822T | Dilated cardiomyopathy 1A | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:83014612
- GRCh38:
- Chr7:83385296
| SEMA3E | E565K, E625K | Dilated cardiomyopathy 1A | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:156108869
- GRCh38:
- Chr1:156139078
| LMNA | | Dilated cardiomyopathy 1A | Likely pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156104645
- GRCh38:
- Chr1:156134854
| LMNA | D118G, D149G, D230G | not 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 |
| - GRCh37:
- Chr1:156107025
- GRCh38:
- Chr1:156137234
| LMNA | | Dilated cardiomyopathy 1A | Likely pathogenic (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084953
- GRCh38:
- Chr1:156115162
| LMNA | E82Q | Familial 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 |
| - GRCh37:
- Chr1:156085065
- GRCh38:
- Chr1:156115274
| LMNA | R119L | Charcot-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 |
| - GRCh37:
- Chr1:156104988
- GRCh38:
- Chr1:156135197
| LMNA | R275fs, R194fs, R163fs | Charcot-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 |
| - GRCh37:
- Chr1:156105045
- GRCh38:
- Chr1:156135254
| LMNA | Q212L, Q181L, Q293L | Charcot-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 |
| - GRCh37:
- Chr1:156084756
- GRCh38:
- Chr1:156114965
| LMNA | A16D | Familial 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 |
| - GRCh37:
- Chr1:156107480-156107481
- GRCh38:
- Chr1:156137689-156137690
| LMNA | V437fs, V468fs, V549fs | Cardiomyopathy, 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 |
| - GRCh37:
- Chr1:156084877
- GRCh38:
- Chr1:156115086
| LMNA | N56K | Congenital 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 pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:156105695
- GRCh38:
- Chr1:156135904
| LMNA | A202T, A233T, A314T | Cardiomyopathy, 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 |
| - GRCh37:
- Chr1:156108292
- GRCh38:
- Chr1:156138501
| LMNA | S459N, S541N, S571N | Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Cardiomyopathy
| Uncertain significance (Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156084780
- GRCh38:
- Chr1:156114989
| LMNA | T24I | Charcot-Marie-Tooth disease type 2B1, Restrictive dermopathy 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan type, 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 |
| - GRCh37:
- Chr1:156107016
- GRCh38:
- Chr1:156137225
| LMNA | T422S, T453S, T534S | Cardiovascular 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 |
| - GRCh37:
- Chr1:156100518
- GRCh38:
- Chr1:156130727
| LOC126805877, LMNA | R156H, R44H, R75H | Cardiovascular 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 |
| - GRCh37:
- Chr1:156105747
- GRCh38:
- Chr1:156135956
| LMNA | R219L, R250L, R331L | Dilated cardiomyopathy 1A | Likely pathogenic (Apr 27, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:156108873
- GRCh38:
- Chr1:156139082
| LMNA | S545R, S607R, S627R, S657R | Emery-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 |
| - GRCh37:
- Chr1:156105057
- GRCh38:
- Chr1:156135266
| LMNA | I216N, I297N, I185N | Dilated cardiomyopathy 1A | Uncertain significance (Sep 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156104783
- GRCh38:
- Chr1:156134992
| LMNA | | Dilated cardiomyopathy 1A | Uncertain significance (Mar 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084896
- GRCh38:
- Chr1:156115105
| LMNA | I63L | Charcot-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 |
| - GRCh37:
- Chr1:156084842
- GRCh38:
- Chr1:156115051
| LMNA | Y45H | Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation | Uncertain significance (Jan 17, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156107491
- GRCh38:
- Chr1:156137700
| LMNA | D440A, D471A, D552A | Heart-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 |
| - GRCh37:
- ChrX:153648561
- GRCh38:
- ChrX:154420222
| TAFAZZIN | D175E, D189E, D205E, D219E, D223E | 3-Methylglutaconic aciduria type 2, Dilated cardiomyopathy 1A | Uncertain significance (May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153607863
- GRCh38:
- ChrX:154379503
| EMD | L7F | Dilated cardiomyopathy 1A | Uncertain significance (Oct 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78390885
- GRCh38:
- Chr1:77925200
| NEXN | N154D, N90D | Dilated cardiomyopathy 1A | Uncertain significance (Jan 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78398986
- GRCh38:
- Chr1:77933301
| NEXN | P294L, P358L | Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1A | Uncertain significance (Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:78408181
- GRCh38:
- Chr1:77942496
| NEXN | I501M, I565M | Dilated cardiomyopathy 1A | Uncertain significance (Nov 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:69905256
- GRCh38:
- Chr10:68145499
| MYPN | G368D, G74D | Cardiovascular phenotype, Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1A, not provided | Uncertain significance (Nov 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:31947778
- GRCh38:
- ChrX:31929661
| DMD | I2160V, I2275V, I2279V, I2283V, I939V, I942V | Duchenne muscular dystrophy, Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1A | Conflicting interpretations of pathogenicity (Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179411961
- GRCh38:
- Chr2:178547234
| TTN-AS1, TTN | E22366*, 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 |
| - GRCh37:
- Chr2:179447293
- GRCh38:
- Chr2:178582566
| TTN, TTN-AS1 | K12899*, K13024*, K13091*, K19396*, K20323*, K21964* | Dilated cardiomyopathy 1A | Pathogenic (Mar 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179442330
- GRCh38:
- Chr2:178577603
| TTN, TTN-AS1 | Y13876*, Y14001*, Y14068*, Y20373*, Y21300*, Y22941* | Dilated cardiomyopathy 1A | Pathogenic (Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7583838-7583841
- GRCh38:
- Chr6:7583605-7583608
| DSP | D1518fs, D1674fs, D2117fs | Dilated cardiomyopathy 1A | Likely pathogenic (Feb 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7585345
- GRCh38:
- Chr6:7585112
| DSP | S2018N, S2174N, S2617N | Dilated cardiomyopathy 1A | Uncertain significance (Aug 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:236889247
- GRCh38:
- Chr1:236725947
| ACTN2 | E155K | Dilated cardiomyopathy 1A | Uncertain significance (Dec 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083451
- GRCh38:
- Chr15:34791250
| ACTC1, GJD2-DT | M285K | Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11 | Uncertain significance (Dec 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:35084770
- GRCh38:
- Chr15:34792569
| ACTC1, GJD2-DT | G152D | Dilated cardiomyopathy 1A | Uncertain significance (Jun 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121431827-121431836
- GRCh38:
- Chr10:119672315-119672324
| BAG3 | S190fs | Dilated cardiomyopathy 1A | Likely pathogenic (Apr 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:69934325
- GRCh38:
- Chr10:68174568
| MYPN | P532T, P826T | Dilated cardiomyopathy 1A | Uncertain significance (Sep 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179439418-179439419
- GRCh38:
- Chr2:178574691-178574692
| TTN, TTN-AS1 | T14749fs, T14874fs, T14941fs, T21246fs, T22173fs, T23814fs | Dilated cardiomyopathy 1A | Pathogenic (Apr 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29126117
- GRCh38:
- Chr18:31546154
| DSG2, DSG2-AS1 | P923R | Dilated 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 |
| - GRCh37:
- Chr18:28660301
- GRCh38:
- Chr18:31080335
| DSC2 | E427D | Dilated cardiomyopathy 1A, Arrhythmogenic right ventricular dysplasia 11 | Uncertain significance (Jun 5, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156084902
- GRCh38:
- Chr1:156115111
| LMNA | E65Q | Dilated cardiomyopathy 1A | Uncertain significance (Dec 19, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156106081
- GRCh38:
- Chr1:156136290
| LMNA | G300W, G412W, G331W | Charcot-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 |
| - GRCh37:
- Chr1:156106134
- GRCh38:
- Chr1:156136343
| LMNA | S317R, S429R, S348R | Emery-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 |
| - GRCh37:
- Chr1:156104627
- GRCh38:
- Chr1:156134836
| LMNA | T112I, T143I, T224I | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156106129
- GRCh38:
- Chr1:156136338
| LMNA | S316G, S347G, S428G | Familial 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 |
| - GRCh37:
- Chr1:156106819
- GRCh38:
- Chr1:156137028
| LMNA | | Dilated cardiomyopathy 1A | Uncertain significance (Jan 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156107514
- GRCh38:
- Chr1:156137723
| LMNA | D448N, D479N, D560N | Dilated cardiomyopathy 1A | Uncertain significance (Nov 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156106084
- GRCh38:
- Chr1:156136293
| LMNA | G301C, G332C, G413C | 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 syndrome, Dilated cardiomyopathy 1AMandibuloacral dysplasia with type A lipodystrophy, not specified, ...see more | Uncertain significance (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156106816
- GRCh38:
- Chr1:156137025
| LMNA | | Charcot-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 |
| - GRCh37:
- Chr1:156106211
- GRCh38:
- Chr1:156136420
| LMNA | R343H, R374H, R455H | Cardiovascular 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 |
| - GRCh37:
- Chr1:156106133
- GRCh38:
- Chr1:156136342
| LMNA | S429N, S348N, S317N | 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 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 |
| - GRCh37:
- Chr1:156085002
- GRCh38:
- Chr1:156115211
| LMNA | E98G | Charcot-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 |
| - GRCh37:
- Chr1:156108270
- GRCh38:
- Chr1:156138479
| LMNA | | Cardiomyopathy, 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 |
| - GRCh37:
- Chr1:156100420
- GRCh38:
- Chr1:156130629
| LMNA, LOC126805877 | | Charcot-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 |
| - GRCh37:
- Chr1:156105761
- GRCh38:
- Chr1:156135970
| LMNA | R255W, R336W, R224W | Charcot-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 |
| - GRCh37:
- Chr1:156108272
- GRCh38:
- Chr1:156138481
| LMNA | | Charcot-Marie-Tooth disease type 2, not provided, Cardiomyopathy, Dilated cardiomyopathy 1A | Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156105732
- GRCh38:
- Chr1:156135941
| LMNA | S326L, S214L, S245L | Cardiovascular 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 |
| - GRCh37:
- Chr1:156100562
- GRCh38:
- Chr1:156130771
| LMNA, LOC126805877 | K171E, K90E, K59E | Charcot-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 |
| - GRCh37:
- Chr1:156108563-156108564
- GRCh38:
- Chr1:156138772-156138773
| LMNA | | Charcot-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 |
| - GRCh37:
- Chr1:156106888
- GRCh38:
- Chr1:156137097
| LMNA | | not 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 |
| - GRCh37:
- Chr1:156106185
- GRCh38:
- Chr1:156136394
| LMNA | D334E, D446E, D365E | Cardiomyopathy, 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 |
| - GRCh37:
- Chr1:156085077
- GRCh38:
- Chr1:156115286
| LMNA | | 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 | Uncertain significance (Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156107617
- GRCh38:
- Chr1:156137826
| LMNA | | 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, 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 |
| - GRCh37:
- Chr1:156084487
- GRCh38:
- Chr1:156114696
| LMNA | | 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, 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 |
| - GRCh37:
- Chr1:156104752
- GRCh38:
- Chr1:156134961
| LMNA | T154A, T266A, T185A | Lethal 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 |
| - GRCh37:
- Chr1:156084666
- GRCh38:
- Chr1:156114875
| LMNA | | Lethal 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 |
| - GRCh37:
- Chr1:156107551
- GRCh38:
- Chr1:156137760
| LMNA | R491H, R572H | not 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 |
| - GRCh37:
- Chr1:156084981
- GRCh38:
- Chr1:156115190
| LMNA | T91I | Charcot-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 |
| - GRCh37:
- Chr3:38622831
- GRCh38:
- Chr3:38581340
| LOC110121269, SCN5A | S940N | Dilated cardiomyopathy 1A, Cardiac arrhythmia, Brugada syndrome
| Uncertain significance (Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156104648
- GRCh38:
- Chr1:156134857
| LMNA | N150S, N231S, N119S | Charcot-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 |
| - GRCh37:
- Chr1:156085035
- GRCh38:
- Chr1:156115244
| LMNA | V109E | Mandibuloacral 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 |
| - GRCh37:
- Chr19:55668447
- GRCh38:
- Chr19:55157079
| TNNI3 | R27C | Cardiovascular phenotype, Hypertrophic cardiomyopathy | Uncertain significance (May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23854136
- GRCh38:
- Chr14:23384927
| MYH6 | A1760T | Dilated 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 |
| - GRCh37:
- Chr1:156106147
- GRCh38:
- Chr1:156136356
| LMNA | A353T, A322T, A434T | Charcot-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 |
| - GRCh37:
- Chr1:156084789
- GRCh38:
- Chr1:156114998
| LMNA | T27I | Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation | Likely pathogenic (Sep 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156105687
- GRCh38:
- Chr1:156135896
| LMNA | | Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Cardiomyopathy, Dilated cardiomyopathy 1A | Conflicting interpretations of pathogenicity (Nov 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156106706
- GRCh38:
- Chr1:156136915
| LMNA | | Charcot-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 |
| - GRCh37:
- Chr8:19805714
- GRCh38:
- Chr8:19948203
| LPL | E38K | not specified, Cardiovascular phenotype, not provided, Hyperlipoproteinemia, type I | Conflicting interpretations of pathogenicity (Nov 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156106826
- GRCh38:
- Chr1:156137035
| LMNA | | Charcot-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 |
| - GRCh37:
- Chr1:156106074
- GRCh38:
- Chr1:156136283
| LMNA | | Lethal 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 |
| - GRCh37:
- Chr1:156100526
- GRCh38:
- Chr1:156130735
| LMNA, LOC126805877 | E159*, E47*, E78* | Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1A | Pathogenic (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:32481569
- GRCh38:
- ChrX:32463452
| DMD | H1017L, H1132L, H1136L, H1140L | Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1A, Duchenne muscular dystrophy | Conflicting interpretations of pathogenicity (Apr 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156106979
- GRCh38:
- Chr1:156137188
| LMNA | C410R, C441R, C522R | Dilated 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 provided | no assertion provided |
| - GRCh37:
- Chr1:156106245
- GRCh38:
- Chr1:156136454
| LMNA | | not 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 |
| - GRCh37:
- Chr1:156105782
- GRCh38:
- Chr1:156135991
| LMNA | R231W, R262W, R343W | Hutchinson-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 |
| - GRCh37:
- Chr10:112581366
- GRCh38:
- Chr10:110821608
| RBM20 | V997M | Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1A
| Conflicting interpretations of pathogenicity (Sep 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156105053
- GRCh38:
- Chr1:156135262
| LMNA | R184C, R215C, R296C | Charcot-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 |
| - GRCh37:
- Chr1:156108324
- GRCh38:
- Chr1:156138533
| LMNA | R470C, R552C, R582C | Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not provided, Dilated cardiomyopathy 1A | Conflicting interpretations of pathogenicity (Aug 3, 2022) | criteria provided, conflicting interpretations |