| - GRCh37:
- Chr7:128498528
- GRCh38:
- Chr7:128858474
| FLNC, FLNC-AS1 | W2677*, W2710* | not provided, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement,
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy
| Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10897339
- GRCh38:
- Chr19:10786663
| DNM2 | F317L | Charcot-Marie-Tooth disease dominant intermediate B, Myofibrillar myopathy, Limb-girdle muscle weakness
| Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88452301
- GRCh38:
- Chr10:86692544
| LDB3 | P243L, P290L, P358L | Myofibrillar myopathy 4 | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220283230
- GRCh38:
- Chr2:219418508
| DES | R16C | Myofibrillar myopathy | Pathogenic
(Aug 16, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:220290442
- GRCh38:
- Chr2:219425720
| DES | K449T | Desmin-related myofibrillar myopathy, not provided | Pathogenic/Likely pathogenic
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286107
- GRCh38:
- Chr2:219421385
| DES | A357P | not provided | Pathogenic
(Jul 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220285088
- GRCh38:
- Chr2:219420366
| DES | | Desmin-related myofibrillar myopathy, not specified, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220284876
- GRCh38:
- Chr2:219420154
| DES | A213V | Cardiovascular phenotype, Myofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy,
not specified, not provided, Cardiomyopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I, Congenital diaphragmatic hernia
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121432031
- GRCh38:
- Chr10:119672519
| BAG3 | R258W | Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6,
not specified, not provided, Dilated cardiomyopathy 1HH,
Myofibrillar myopathy 6 | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206519
- GRCh38:
- Chr5:137870830
| MYOT, PKD2L2-DT | S60C | Spheroid body myopathy, Myofibrillar myopathy 3, not provided,
Myofibrillar myopathy 3 | Pathogenic
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88446975
- GRCh38:
- Chr10:86687218
| LDB3, LOC110121486 | A165V, A280V | Cardiovascular phenotype, Neuromuscular disease, not provided,
Cardiomyopathy, Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
| Conflicting interpretations of pathogenicity
(Dec 1, 2022) | criteria provided, conflicting interpretations |