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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| NEB | 161650 | 256030 | 2q23.3 | ARG2809* | | NEMALINE MYOPATHY 2 (NEM2) | 2 |
| NEB | 161650 | 161650 | 2q23.3 | c.1152+1G>A | | NEMALINE MYOPATHY 2 (NEM2) | 2 |
| NEB | 161650 | 256030 | 2q23.3 | c.12018+1G>A | | | 1 |
| NEB | 161650 | 256030 | 2q23.3 | c.13059+5G>A | | NEMALINE MYOPATHY 2 (NEM2) | 1 |
| NEB | 161650 | 256030 | 2q23.3 | c.16984C>T | | NEMALINE MYOPATHY 2 (NEM2) | 1 |
| NEB | 161650 | 161650 | 2q23.3 | c.17013+1G>T | | NEMALINE MYOPATHY 2 (NEM2) | 2 |
| NEB | 161650 | 256030 | 2q23.3 | C.17262 G>A | | | 4 |
| NEB | 161650 | 256030 | 2q23.3 | c.17654G>A | | NEMALINE MYOPATHY 2 (NEM2) | 1 |
| NEB | 161650 | 256030 | 2q23.3 | c.19568T>G | | NEMALINE MYOPATHY 2 (NEM2) | 1 |
| NEB | 161650 | 256030 | 2q23.3 | c.24218 C>A | | NEMALINE MYOPATHY 2 (NEM2) | 2 |
| NEB | 161650 | 256030 | 2q23.3 | c.24313_24317dupGTGTT | | NEMALINE MYOPATHY 2; NEM2 | 1 |
| NEB | 161650 | 256030 | 2q23.3 | c.24318_24319insAA | | | 4 |
| NEB | 161650 | 256030 | 2q23.3 | c.24458_24461dupAGAT | | | 1 |
| NEB | 161650 | 256030 | 2q23.3 | c.24473_24476dupAACA | | NEMALINE MYOPATHY 2 (NEM2) | 2 |
| NEB | 161650 | 256030 | 2q23.3 | c.24500_24503dup | | NEMALINE MYOPATHY 2 (NEM2) | 3 |
| NEB | 161650 | 256030 | 2q23.3 | c.24579G>A (p.Ser8193Ser) | | NEMALINE MYOPATHY 2 | 1 |
| NEB | 161650 | 256030 | 2q23.3 | c.24654_24655delAG | | NEMALINE MYOPATHY 2 (NEM2) | 1 |
| NEB | 161650 | 256030 | 2q23.3 | c.24771delT | | NEMALINE MYOPATHY 2 (NEM2) | 1 |
| NEB | 161650 | 256030 | 2q23.3 | c.3252_3255+3DELTGACGTA | | NEMALINE MYOPATHY 2 (NEM2) | 1 |
| NEB | 161650 | 256030 | 2q23.3 | c.3255+1G>A | | NEMALINE MYOPATHY 2 (NEM2) | 1 |