| - GRCh37:
- Chr1:156107477
- GRCh38:
- Chr1:156137686
| LMNA | T340fs, T362fs, T436fs, T449fs, T467fs, T548fs | Dilated cardiomyopathy 1A | Pathogenic
(Jan 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156100452
- GRCh38:
- Chr1:156130661
| LMNA, LOC126805877 | L134P, L22P, L35P, L53P | Dilated cardiomyopathy 1A | Likely pathogenic
(Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156105724-156105726
- GRCh38:
- Chr1:156135933-156135935
| LMNA | E116del, E138del, E212del, E225del, E243del, E324del | Dilated cardiomyopathy 1A | Uncertain significance
(Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156104627
- GRCh38:
- Chr1:156134836
| LMNA | D4fs, R113fs, R126fs, R144fs, R225fs, R39fs | Dilated cardiomyopathy 1A | Likely pathogenic
(Jun 1, 2023) | criteria provided, single submitter |
| - 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, 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 |
| - 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 | Charcot-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 |
| - 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 | Congenital 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 |
| - GRCh37:
- Chr1:156085065
- GRCh38:
- Chr1:156115274
| LMNA | R119L | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, 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 |
| - GRCh37:
- Chr1:156104988
- GRCh38:
- Chr1:156135197
| LMNA | R275fs, R194fs, R163fs | Charcot-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 |
| - GRCh37:
- Chr1:156105045
- GRCh38:
- Chr1:156135254
| LMNA | Q212L, Q181L, Q293L | Charcot-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 |
| - GRCh37:
- Chr1:156084756
- GRCh38:
- Chr1:156114965
| LMNA | A16D | Charcot-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 |
| - GRCh37:
- Chr1:156107480-156107481
- GRCh38:
- Chr1:156137689-156137690
| LMNA | V437fs, V468fs, V549fs | Mandibuloacral 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 |
| - GRCh37:
- Chr1:156084877
- GRCh38:
- Chr1:156115086
| LMNA | N56K | Congenital 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 pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:156105695
- GRCh38:
- Chr1:156135904
| LMNA | A202T, A233T, A314T | Charcot-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 |
| - GRCh37:
- Chr1:156100421
- GRCh38:
- Chr1:156130630
| LMNA, LOC126805877 | E124K, E12K, E43K | Cardiomyopathy, Dilated cardiomyopathy 1A | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156108292
- GRCh38:
- Chr1:156138501
| LMNA | S459N, S541N, S571N | Cardiomyopathy, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type
| 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, 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 |
| - GRCh37:
- Chr1:156107016
- GRCh38:
- Chr1:156137225
| LMNA | T422S, T453S, T534S | Charcot-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 |
| - GRCh37:
- Chr1:156100518
- GRCh38:
- Chr1:156130727
| LMNA, LOC126805877 | R156H, R44H, R75H | Charcot-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 |
| - 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 | Charcot-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 |
| - 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, 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 |
| - 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 | Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A 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 |
| - 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 | not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 20,
Dilated cardiomyopathy 1CC, 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 | not provided, Cardiovascular phenotype, Dilated cardiomyopathy 1KK,
Dilated cardiomyopathy 1A | Uncertain significance
(Nov 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:31947778
- GRCh38:
- ChrX:31929661
| DMD | I2160V, I2275V, I2279V, I2283V, I939V, I942V | not provided, Cardiovascular phenotype, Dilated cardiomyopathy 1A,
Duchenne muscular dystrophy | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179411961
- GRCh38:
- Chr2:178547234
| TTN, TTN-AS1 | E22366*, 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 |
| - 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 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1A | 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-AS1, DSG2 | P923R | Dilated 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 |
| - 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 | Cardiovascular 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 |
| - GRCh37:
- Chr1:156106134
- GRCh38:
- Chr1:156136343
| LMNA | S317R, S429R, S348R | Charcot-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 |
| - 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 | Charcot-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 |
| - 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, 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 |
| - GRCh37:
- Chr1:156106816
- GRCh38:
- Chr1:156137025
| LMNA | | Cardiomyopathy, 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 |
| - GRCh37:
- Chr1:156106211
- GRCh38:
- Chr1:156136420
| LMNA | R343H, R374H, R455H | Cardiovascular 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 |
| - GRCh37:
- Chr1:156106133
- GRCh38:
- Chr1:156136342
| LMNA | S429N, S348N, S317N | 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 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 |
| - GRCh37:
- Chr1:156085002
- GRCh38:
- Chr1:156115211
| LMNA | E98G | 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 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 |
| - GRCh37:
- Chr1:156108270
- GRCh38:
- Chr1:156138479
| LMNA | | Cardiovascular 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 |
| - GRCh37:
- Chr1:156100420
- GRCh38:
- Chr1:156130629
| LMNA, LOC126805877 | | Cardiovascular 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 |
| - GRCh37:
- Chr1:156105761
- GRCh38:
- Chr1:156135970
| LMNA | R255W, R336W, R224W | Charcot-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 |
| - GRCh37:
- Chr1:156108272
- GRCh38:
- Chr1:156138481
| LMNA | | Dilated cardiomyopathy 1A, not provided, Cardiomyopathy,
Charcot-Marie-Tooth disease type 2 | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156105732
- GRCh38:
- Chr1:156135941
| LMNA | S326L, S214L, S245L | Charcot-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 |
| - GRCh37:
- Chr1:156100562
- GRCh38:
- Chr1:156130771
| LMNA, LOC126805877 | K171E, K90E, K59E | Charcot-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 |
| - GRCh37:
- Chr1:156108563-156108564
- GRCh38:
- Chr1:156138772-156138773
| LMNA | | not 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 |
| - GRCh37:
- Chr1:156106888
- GRCh38:
- Chr1:156137097
| LMNA | | Charcot-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 |
| - GRCh37:
- Chr1:156106185
- GRCh38:
- Chr1:156136394
| LMNA | D334E, D446E, D365E | 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,
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 |
| - GRCh37:
- Chr1:156085077
- GRCh38:
- Chr1:156115286
| LMNA | | Congenital 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 |
| - GRCh37:
- Chr1:156107617
- GRCh38:
- Chr1:156137826
| LMNA | | 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,
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 |
| - GRCh37:
- Chr1:156084487
- GRCh38:
- Chr1:156114696
| LMNA | | Emery-Dreifuss muscular dystrophy, not provided, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1A,
Lethal tight skin contracture syndrome, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules ...see more | Conflicting interpretations of pathogenicity
(Aug 3, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156104752
- GRCh38:
- Chr1:156134961
| LMNA | T154A, T266A, T185A | Congenital 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 |
| - GRCh37:
- Chr1:156084666
- GRCh38:
- Chr1:156114875
| LMNA | | 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, 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 |
| - GRCh37:
- Chr1:156107551
- GRCh38:
- Chr1:156137760
| LMNA | R491H, R572H | Dilated 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 |
| - GRCh37:
- Chr1:156084981
- GRCh38:
- Chr1:156115190
| LMNA | T91I | 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 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 |
| - GRCh37:
- Chr3:38622831
- GRCh38:
- Chr3:38581340
| LOC110121269, SCN5A | S940N | Brugada syndrome, Dilated cardiomyopathy 1A, Cardiac arrhythmia
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156104648
- GRCh38:
- Chr1:156134857
| LMNA | N150S, N231S, N119S | not 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 |
| - GRCh37:
- Chr1:156085035
- GRCh38:
- Chr1:156115244
| LMNA | V109E | Charcot-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 |
| - 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 | Hypertrophic 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 |
| - GRCh37:
- Chr1:156106147
- GRCh38:
- Chr1:156136356
| LMNA | A353T, A322T, A434T | Charcot-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 |
| - 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, 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 |
| - 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, 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 |
| - GRCh37:
- Chr1:156106074
- GRCh38:
- Chr1:156136283
| LMNA | | Lipoatrophy 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 |
| - 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, Duchenne muscular dystrophy, Dilated cardiomyopathy 1A,
not provided | Conflicting interpretations of pathogenicity
(Apr 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156106979
- GRCh38:
- Chr1:156137188
| LMNA | C410R, C441R, C522R | Benign 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 provided | no assertion provided |