Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:211179765-211179766
- GRCh38:
- Chr2:210315041-210315042
| MYL1 | M1fs | not provided, Congenital myopathy with reduced type 2 muscle fibers | Benign
(Jan 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:211158515
- GRCh38:
- Chr2:210293791
| MYL1 | M163R, M119R | Congenital myopathy with reduced type 2 muscle fibers | Likely pathogenic
(Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:211158526
- GRCh38:
- Chr2:210293802
| MYL1 | | Congenital myopathy with reduced type 2 muscle fibers | Pathogenic
(Mar 10, 2023) | no assertion criteria provided |