| - GRCh37:
- Chr1:229568314
- GRCh38:
- Chr1:229432567
| ACTA1 | G148V | Nemaline myopathy, Centronuclear myopathy | Likely pathogenic
(Jul 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179550326
- GRCh38:
- Chr2:178685599
| TTN | | Centronuclear myopathy | Pathogenic
(Apr 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179650838-179650839
- GRCh38:
- Chr2:178786111-178786112
| TTN | | Centronuclear myopathy | Pathogenic
(Apr 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38987526
- GRCh38:
- Chr19:38496886
| RYR1 | V2275M | not provided, Centronuclear myopathy | Likely pathogenic
(Mar 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38948809
- GRCh38:
- Chr19:38458169
| RYR1 | R682G | Centronuclear myopathy | Likely pathogenic
(Apr 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:149818379
- GRCh38:
- ChrX:150649906
| MTM1 | | Centronuclear myopathy | Uncertain significance
(Jun 20, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:179498627-179498628
- GRCh38:
- Chr2:178633900-178633901
| TTN | M11632fs, M14200fs, M5327fs, M12559fs, M5135fs, M5260fs | Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not provided, Centronuclear myopathy, Primary dilated cardiomyopathy
| Conflicting interpretations of pathogenicity
(Aug 30, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:38964128
- GRCh38:
- Chr19:38473488
| RYR1 | P1293T | not provided, RYR1-Related Disorders | Uncertain significance
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:149826326-149826327
- GRCh38:
- ChrX:150657853-150657854
| MTM1 | V327fs, V364fs | Severe X-linked myotubular myopathy | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179438873-179438879
- GRCh38:
- Chr2:178574146-178574152
| TTN, TTN-AS1 | | Centronuclear myopathy, not provided, Primary dilated cardiomyopathy
| Pathogenic/Likely pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10893769
- GRCh38:
- Chr19:10783093
| DNM2 | | Inborn genetic diseases, not specified, not provided,
Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B | Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:10870499
- GRCh38:
- Chr19:10759823
| DNM2 | | not specified, not provided, Centronuclear myopathy,
Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:10939759
- GRCh38:
- Chr19:10829083
| DNM2 | | Centronuclear myopathy, Inborn genetic diseases, not provided,
Charcot-Marie-Tooth disease dominant intermediate B | Conflicting interpretations of pathogenicity
(Feb 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:10934562
- GRCh38:
- Chr19:10823886
| DNM2 | P627R, P623R | not provided, Centronuclear myopathy, Autosomal dominant centronuclear myopathy
| Pathogenic/Likely pathogenic
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10934544
- GRCh38:
- Chr19:10823868
| DNM2 | L621P, L617P | Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B | Pathogenic
(Feb 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10934509
- GRCh38:
- Chr19:10823833
| DNM2 | | Centronuclear myopathy, Inborn genetic diseases, not specified,
Charcot-Marie-Tooth disease dominant intermediate B | Conflicting interpretations of pathogenicity
(Jul 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:10922947
- GRCh38:
- Chr19:10812271
| DNM2 | R522H, R518H | not provided, Centronuclear myopathy, Autosomal dominant centronuclear myopathy,
Charcot-Marie-Tooth disease dominant intermediate B, See cases | Pathogenic/Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10904527
- GRCh38:
- Chr19:10793851
| DNM2 | V375E | Centronuclear myopathy | Likely pathogenic
(Mar 31, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr19:10934538
- GRCh38:
- Chr19:10823862
| DNM2 | S619L, S615L | Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy,
Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B, Fetal akinesia-cerebral and retinal hemorrhage syndrome
| Pathogenic/Likely pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10904505
- GRCh38:
- Chr19:10793829
| DNM2 | E368K | not provided, Centronuclear myopathy, Myopathy,
Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy | Pathogenic
(Jul 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10909219
- GRCh38:
- Chr19:10798543
| DNM2 | R465W | Centronuclear myopathy, not provided, Charcot-Marie-Tooth disease dominant intermediate B,
Autosomal dominant centronuclear myopathy, Abnormality of the musculature | Pathogenic
(Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10904508
- GRCh38:
- Chr19:10793832
| DNM2 | R369W | Centronuclear myopathy, not provided, Charcot-Marie-Tooth disease dominant intermediate B,
Autosomal dominant centronuclear myopathy | Pathogenic
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10904509
- GRCh38:
- Chr19:10793833
| DNM2 | R369Q | Centronuclear myopathy, not provided, Charcot-Marie-Tooth disease dominant intermediate B,
Autosomal dominant centronuclear myopathy | Pathogenic
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |