| - GRCh37:
- Chr1:40735705
- GRCh38:
- Chr1:40270033
| ZMPSTE24 | L178* | Lethal tight skin contracture syndrome | Pathogenic
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40726647
- GRCh38:
- Chr1:40260975
| ZMPSTE24 | T87I | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy, not provided
| Uncertain significance
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40758329
- GRCh38:
- Chr1:40292657
| ZMPSTE24 | M472I | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy, not provided
| Uncertain significance
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40759581
- GRCh38:
- Chr1:40293909
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40758589
- GRCh38:
- Chr1:40292917
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40734200
- GRCh38:
- Chr1:40268528
| ZMPSTE24 | N156S | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759383
- GRCh38:
- Chr1:40293711
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759250
- GRCh38:
- Chr1:40293578
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759141
- GRCh38:
- Chr1:40293469
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - 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:
- Chr1:40758379
- GRCh38:
- Chr1:40292707
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40758190
- GRCh38:
- Chr1:40292518
| ZMPSTE24 | G426E | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40758172
- GRCh38:
- Chr1:40292500
| ZMPSTE24 | A420G | not provided, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
| Uncertain significance
(Jul 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40723995
- GRCh38:
- Chr1:40258323
| ZMPSTE24 | R18C | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - 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:
- Chr1:40759074
- GRCh38:
- Chr1:40293402
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759051
- GRCh38:
- Chr1:40293379
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40751670
- GRCh38:
- Chr1:40285998
| ZMPSTE24 | G343E | not provided, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156084487
- GRCh38:
- Chr1:156114696
| LMNA | | Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy, not provided,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Lethal tight skin contracture syndrome ...see more | Conflicting interpretations of pathogenicity
(Aug 3, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:40759844
- GRCh38:
- Chr1:40294172
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759803
- GRCh38:
- Chr1:40294131
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759004
- GRCh38:
- Chr1:40293332
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40737653
- GRCh38:
- Chr1:40271981
| ZMPSTE24 | E239K | not provided, Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome
| Uncertain significance
(Aug 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40734207
- GRCh38:
- Chr1:40268535
| ZMPSTE24 | | not provided, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr1:40756519-40756550
- GRCh38:
- Chr1:40290847-40290878
| ZMPSTE24 | | Lethal tight skin contracture syndrome | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40758251
- GRCh38:
- Chr1:40292579
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy, not provided
| Likely benign
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40747202
- GRCh38:
- Chr1:40281530
| ZMPSTE24 | | not provided, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
| Benign/Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40734186
- GRCh38:
- Chr1:40268514
| ZMPSTE24 | | not provided, Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome
| Benign/Likely benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40756631
- GRCh38:
- Chr1:40290959
| ZMPSTE24 | | Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome, not provided
| Conflicting interpretations of pathogenicity
(Nov 28, 2021) | criteria provided, conflicting interpretations |
| - 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:
- Chr1:156105782
- GRCh38:
- Chr1:156135991
| LMNA | R231W, R262W, R343W | Charcot-Marie-Tooth disease type 2, Hutchinson-Gilford syndrome, Restrictive dermopathy 2,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian typeMandibuloacral dysplasia with type A lipodystrophy,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Cardiovascular phenotype, not specified,
Cardiomyopathy, Emery-Dreifuss muscular dystrophy, not provided,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease,
...see more | Conflicting interpretations of pathogenicity
(Nov 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156105708
- GRCh38:
- Chr1:156135917
| LMNA | A318V, A206V, A237V | Charcot-Marie-Tooth disease type 2, Lethal tight skin contracture syndrome, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
Emery-Dreifuss muscular dystrophy, not provided, Cardiomyopathy,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan typeMandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, ...see more | Uncertain significance/Uncertain risk allele
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156106205
- GRCh38:
- Chr1:156136414
| LMNA | R453Q, R341Q, R372Q | Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy, Cardiomyopathy,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, not provided, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1AFamilial partial lipodystrophy, Dunnigan type,
Lethal tight skin contracture syndrome, ...see more | Conflicting interpretations of pathogenicity
(May 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156106171
- GRCh38:
- Chr1:156136380
| LMNA | V442M, V361M, V330M | Emery-Dreifuss muscular dystrophy, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, not provided,
Cardiomyopathy, Lethal tight skin contracture syndrome, Cardiovascular phenotype,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndromeCongenital muscular dystrophy due to LMNA mutation,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Charcot-Marie-Tooth disease type 2, ...see more | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156107658
- GRCh38:
- Chr1:156137867
| LMNA | | Congenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy,
Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia, Lethal tight skin contracture syndrome,
Limb-Girdle Muscular Dystrophy, Recessive, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Dilated Cardiomyopathy, Dominant,
Familial partial lipodystrophy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759833
- GRCh38:
- Chr1:40294161
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759654
- GRCh38:
- Chr1:40293982
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759481
- GRCh38:
- Chr1:40293809
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759043
- GRCh38:
- Chr1:40293371
| ZMPSTE24 | | Mandibuloacral dysplasia, Lethal tight skin contracture syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759037
- GRCh38:
- Chr1:40293365
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759019
- GRCh38:
- Chr1:40293347
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40758877
- GRCh38:
- Chr1:40293205
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40758862
- GRCh38:
- Chr1:40293190
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40758637
- GRCh38:
- Chr1:40292965
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40758553
- GRCh38:
- Chr1:40292881
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40758521-40758524
- GRCh38:
- Chr1:40292849-40292852
| ZMPSTE24 | | Mandibuloacral dysplasia, Lethal tight skin contracture syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40758400
- GRCh38:
- Chr1:40292728
| ZMPSTE24 | | Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40756572
- GRCh38:
- Chr1:40290900
| ZMPSTE24 | R369Q | not specified, not provided, Lethal tight skin contracture syndrome,
Mandibuloacral dysplasia with type B lipodystrophy | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:40751692
- GRCh38:
- Chr1:40286020
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40747190-40747195
- GRCh38:
- Chr1:40281518-40281523
| ZMPSTE24 | | Mandibuloacral dysplasia, not provided, Lethal tight skin contracture syndrome
| Conflicting interpretations of pathogenicity
(Jul 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:40747001
- GRCh38:
- Chr1:40281329
| ZMPSTE24 | | not provided, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:40735727
- GRCh38:
- Chr1:40270055
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40726624
- GRCh38:
- Chr1:40260952
| ZMPSTE24 | | not provided, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
| Benign/Likely benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40723973
- GRCh38:
- Chr1:40258301
| ZMPSTE24 | L10F | not provided, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
| Uncertain significance
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40723931
- GRCh38:
- Chr1:40258259
| ZMPSTE24 | | Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40723898
- GRCh38:
- Chr1:40258226
| ZMPSTE24 | | Mandibuloacral dysplasia, Lethal tight skin contracture syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40723889
- GRCh38:
- Chr1:40258217
| ZMPSTE24 | | Mandibuloacral dysplasia, Lethal tight skin contracture syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40723772
- GRCh38:
- Chr1:40258100
| ZMPSTE24 | | Mandibuloacral dysplasia, Lethal tight skin contracture syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40723763
- GRCh38:
- Chr1:40258091
| ZMPSTE24 | | Mandibuloacral dysplasia, Lethal tight skin contracture syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40723759
- GRCh38:
- Chr1:40258087
| ZMPSTE24 | | Mandibuloacral dysplasia, Lethal tight skin contracture syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156107591
- GRCh38:
- Chr1:156137800
| LMNA | | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy 1A,
Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome, Benign scapuloperoneal muscular dystrophy with cardiomyopathy ...see more | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156106819
- GRCh38:
- Chr1:156137028
| LMNA | | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, not specified,
not provided, Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy,
Familial partial lipodystrophy, Dunnigan type, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndromeEmery-Dreifuss muscular dystrophy,
Congenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Cardiomyopathy, ...see more | Conflicting interpretations of pathogenicity
(Mar 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156105740
- GRCh38:
- Chr1:156135949
| LMNA | R329S, R217S, R248S | Dilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
not specified, Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2,
Mandibuloacral dysplasia, Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutationFamilial partial lipodystrophy,
...see more | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156105115
- GRCh38:
- Chr1:156135324
| LMNA | | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive,
not specified, Cardiovascular phenotype, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutationFamilial partial lipodystrophy,
Hutchinson-Gilford syndrome, ...see more | Conflicting interpretations of pathogenicity
(Dec 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156104183
- GRCh38:
- Chr1:156134392
| LMNA | | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, not provided,
Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type,
Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutationBenign scapuloperoneal muscular dystrophy with cardiomyopathy,
Hutchinson-Gilford syndrome, ...see more | Conflicting interpretations of pathogenicity
(May 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156085004
- GRCh38:
- Chr1:156115213
| LMNA | R99S | Limb-Girdle Muscular Dystrophy, Recessive, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy, not provided,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Primary dilated cardiomyopathy,
Lethal tight skin contracture syndrome, Hutchinson-Gilford syndromeMandibuloacral dysplasia with type A lipodystrophy,
Familial partial lipodystrophy, Dunnigan type, ...see more | Conflicting interpretations of pathogenicity
(Nov 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156085003
- GRCh38:
- Chr1:156115212
| LMNA | | 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, not provided,
Dilated cardiomyopathy 1A, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Primary dilated cardiomyopathy, Emery-Dreifuss muscular dystrophyCongenital muscular dystrophy due to LMNA mutation,
Lethal tight skin contracture syndrome, ...see more | Conflicting interpretations of pathogenicity
(Apr 23, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156084705
- GRCh38:
- Chr1:156114914
| LMNA | | Dilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy,
Hutchinson-Gilford syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084648
- GRCh38:
- Chr1:156114857
| LMNA | | Dilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy,
Hutchinson-Gilford syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084622
- GRCh38:
- Chr1:156114831
| LMNA | | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, Charcot-Marie-Tooth disease type 2B1,
Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type, Lethal tight skin contracture syndrome,
not provided, Emery-Dreifuss muscular dystrophy, Maturity onset diabetes mellitus in young,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1ABenign scapuloperoneal muscular dystrophy with cardiomyopathy,
Hutchinson-Gilford syndrome, ...see more | Benign/Likely benign
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156084601
- GRCh38:
- Chr1:156114810
| LMNA | | Dilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy,
Familial partial lipodystrophy, Mandibuloacral dysplasia, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084582
- GRCh38:
- Chr1:156114791
| LMNA | | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, 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, Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1A,
Hutchinson-Gilford syndrome, Benign scapuloperoneal muscular dystrophy with cardiomyopathy ...see more | Likely benign
(Jul 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084572
- GRCh38:
- Chr1:156114781
| LMNA | | Limb-Girdle Muscular Dystrophy, Recessive, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, 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, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1A ...see more | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084568
- GRCh38:
- Chr1:156114777
| LMNA | | Dilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia,
Emery-Dreifuss muscular dystrophy, Familial partial lipodystrophy, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084527
- GRCh38:
- Chr1:156114736
| LMNA | | Dilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia,
Emery-Dreifuss muscular dystrophy, Familial partial lipodystrophy, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084500
- GRCh38:
- Chr1:156114709
| LMNA | | 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,
Limb-Girdle Muscular Dystrophy, Recessive, Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, Lethal tight skin contracture syndrome ...see more | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084485
- GRCh38:
- Chr1:156114694
| LMNA | | Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Charcot-Marie-Tooth disease type 2,
Mandibuloacral dysplasia, Dilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
Limb-Girdle Muscular Dystrophy, Recessive, Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation,
Lethal tight skin contracture syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084484
- GRCh38:
- Chr1:156114693
| LMNA | | Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Dilated cardiomyopathy 1A,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Limb-Girdle Muscular Dystrophy, Recessive, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, Lethal tight skin contracture syndrome ...see more | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156106818
- GRCh38:
- Chr1:156137027
| LMNA | T496M, T384M, T415M | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1,
Familial partial lipodystrophy, Dunnigan type, Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Lethal tight skin contracture syndrome, Hutchinson-Gilford syndromeMandibuloacral dysplasia with type A lipodystrophy,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Cardiovascular phenotype, not provided,
Emery-Dreifuss muscular dystrophy, Cardiomyopathy, Lethal tight skin contracture syndrome,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome,
Restrictive dermopathy 2, Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more | Conflicting interpretations of pathogenicity
(Sep 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156106932
- GRCh38:
- Chr1:156137141
| LMNA | H506P, H394P, H425P | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype,
not provided, not specified, Emery-Dreifuss muscular dystrophy,
Cardiomyopathy, Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndromeBenign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Congenital muscular dystrophy due to LMNA mutation,
Hypertrophic cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome,
Restrictive dermopathy 2, Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156105740
- GRCh38:
- Chr1:156135949
| LMNA | R329G, R217G, R248G | Charcot-Marie-Tooth disease type 2, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Dilated cardiomyopathy 1A,
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,
not specified, Emery-Dreifuss muscular dystrophyLethal tight skin contracture syndrome,
...see more | Uncertain significance/Uncertain risk allele
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156105684
- GRCh38:
- Chr1:156135893
| LMNA | | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy,
Cardiomyopathy, Lethal tight skin contracture syndrome, not provided,
Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1AFamilial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Primary dilated cardiomyopathy, ...see more | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156100522
- GRCh38:
- Chr1:156130731
| LMNA, LOC126805877 | | Cardiovascular phenotype, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease type 2,
not provided, not specified, Emery-Dreifuss muscular dystrophy,
Cardiomyopathy, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1ACongenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome, Lethal tight skin contracture syndrome,
...see more | Conflicting interpretations of pathogenicity
(Jan 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156100449
- GRCh38:
- Chr1:156130658
| LMNA, LOC126805877 | R133Q, R21Q, R52Q | Charcot-Marie-Tooth disease type 2, not provided, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
Cardiovascular phenotype, Emery-Dreifuss muscular dystrophy, Cardiomyopathy,
Dilated cardiomyopathy 1A, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy, Dunnigan typeMandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Lethal tight skin contracture syndrome, ...see more | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156106966
- GRCh38:
- Chr1:156137175
| LMNA | | Cardiovascular phenotype, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not provided, Limb-Girdle Muscular Dystrophy, Recessive, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
not specified, Cardiomyopathy, Emery-Dreifuss muscular dystrophy,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutationFamilial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome, ...see more | Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156106833
- GRCh38:
- Chr1:156137042
| LMNA | | Cardiovascular phenotype, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, not provided, not specified,
Emery-Dreifuss muscular dystrophy, 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, Congenital muscular dystrophy due to LMNA mutation, Lethal tight skin contracture syndrome,
...see more | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156107470
- GRCh38:
- Chr1:156137679
| LMNA | R545H, R464H, R433H | Cardiovascular phenotype, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease type 2,
not specified, not provided, Cardiomyopathy,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Mandibuloacral dysplasia with type A lipodystrophyCharcot-Marie-Tooth disease type 2B1,
Lethal tight skin contracture syndrome, Lipodystrophy, Round ear,
Hypercholesterolemia, Decreased body weight, 2-3 finger syndactyly,
Microretrognathia, Microtia, Short stature,
Peripheral neuropathy, ...see more | Conflicting interpretations of pathogenicity
(Apr 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156108511
- GRCh38:
- Chr1:156138720
| LMNA | R532H, R614H, R644H | Cardiovascular phenotype, not specified, Charcot-Marie-Tooth disease type 2,
not provided, Cardiomyopathy, Lethal tight skin contracture syndrome
| Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:40751632
- GRCh38:
- Chr1:40285960
| ZMPSTE24 | | not provided, Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome
| Benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40737647
- GRCh38:
- Chr1:40271975
| ZMPSTE24 | E237* | Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome, not provided
| Pathogenic/Likely pathogenic
(Feb 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:40735800
- GRCh38:
- Chr1:40270128
| ZMPSTE24 | | Lethal tight skin contracture syndrome | Pathogenic
(Aug 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759231
- GRCh38:
- Chr1:40293559
| ZMPSTE24 | | Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40759064
- GRCh38:
- Chr1:40293392
| ZMPSTE24 | | Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40733512
- GRCh38:
- Chr1:40267840
| ZMPSTE24 | C109G | not provided, Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome
| Conflicting interpretations of pathogenicity
(Dec 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:40737589
- GRCh38:
- Chr1:40271917
| ZMPSTE24 | | not specified, not provided, Mandibuloacral dysplasia with type B lipodystrophy,
Lethal tight skin contracture syndrome | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156106090
- GRCh38:
- Chr1:156136299
| LMNA | V415I, V303I, V334I | Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Congenital muscular dystrophy due to LMNA mutation, Lethal tight skin contracture syndromeCardiovascular phenotype,
Charcot-Marie-Tooth disease type 2, not provided, Cardiomyopathy,
...see more | Conflicting interpretations of pathogenicity
(Oct 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:156105904
- GRCh38:
- Chr1:156136113
| LMNA | | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive,
Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not specified,
not provided, Emery-Dreifuss muscular dystrophy, Cardiomyopathy,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutationFamilial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome, ...see more | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |