Table 2.
Novel genetic variants identified in the congenital myopathy/congenital muscular dystrophy (CM/CMD) cohorts
| Disease category | Gene symbol | Variant | ACMG classification |
|---|---|---|---|
| CM/CMD | NEB | ENST00000397345.8:c.17502_17510dup | LP |
| CM/CMD | LAMA2 | ENST00000421865.3:c.4127T>A | LP |
| CM/CMD | RYR1 | ENST00000355481.8:c.6175_6187del | LP |
| CM/CMD | MSTO1 | ENST00000245564.2:c.1678C>T | LP |
| CM/CMD | PIEZ02 | ENST00000302079.10:c.1345C>T | LP |
| CM/CMD | PIEZ02 | ENST00000302079.10:c.5082+2T>C | LP |
| CM/CMD | CHCHD10 | ENST00000484558.2:c.262-1_262dup | LP |
| CM/CMD | MMF | ENST00000304593.14:c.744+1G>A | LP |
| CM/CMD | NEB | ENST00000397337.6:c.736dup | LP |
| CM/CMD | NEB | ENST00000397345.8:c.23310del | LP |
| CM/CMD | LAMA2 | ENST00000421865.3:c.1170C>A | LP |
| CM/CMD | TPM3 | ENST00000271850.11:c.734G>C | LP |
| CM/CMD | RYR1 | ENST00000355481.8:c.12323G>A | VUS |
| CM/CMD | BICD2 | ENST00000356884.11:c.1993_1998dup | VUS |
| CM/CMD | ACTA1 | ENST00000366683.3:c.182A>G | VUS |
| CM/CMD | MYH2 | ENST00000245503.10:c.4809G>A | VUS |
| CM/CMD | GBE1 | ENST00000429644.7:c.602A>G | VUS |
| CM/CMD | RYR1 | ENST00000355481.8:c.9678G>T | VUS |
| CM/CMD | MSTO1 | ENST00000245564.8:c.49G>C | VUS |
| CM/CMD | FKRP | ENST00000318584.10:c.1034G>T | VUS |
| CM/CMD | PLOD1 | ENST00000196061.5:c.1285G>C | VUS |
ACMG = American College of Medical Genetics; LP = likely pathogenic; VUS = variant of uncertain significance.