Table 1.
Rare variants of uncertain significance (VUS) in genes associated with congenital myopathies or in genes with high expression levels in skeletal muscle identified in the patient
| Gene | Variant | Inheritance | REVEL | CADD |
| RYR1 (MIM: *180901) | NM_000540.2:c.6093G>C, | Paternal | 0.260 | 21.2 |
| NP_000531.2:p.(Leu2031Phe) | ||||
| YBX3 (MIM: * 603437) | NM_003651.4:c.102C>A, | Maternal | 0.033 | 22.2 |
| NP_003642.3:p.(Ser34Arg) | ||||
| NM_003651.4:c.385C>T, | Paternal | 0.393 | 24.5 | |
| NP_003642.3:p.(Arg129Trp) | ||||
| SRPK3 (MIM: *301002) | NM_014370.3 : c.1402G>T, | Maternal | NA | 39 |
| NP_055185.2:p.(Gly468*) | ||||
| DNPEP (MIM: *611367) | 20.1 kb duplication | Maternal | NA | NA |
| Chr2:(19573512_219574571)_(219595787_218794896)dup (Hg38) | ||||
| TNNT3 (MIM: *600692) | 45.8 kb inversion | No data | NA | NA |
| Chr11:(1894041_1894042)_(1939824_1939843)inv (Hg38) |
Abbreviations: NA, not applicable