| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| SEPN1 | 606210 | 602771 | 1p36-p35 | 713dupA (c.713_714Ins) | 0006 | RIGID SPINE MUSCULAR DYSTROPHY 1 | 5 |
| SEPN1 | 606210 | 602771 | 1p36-p35 | c.1282-2A>C | | RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 | 1 |
| SEPN1 | 606210 | 602771 | 1p36-p35 | c.1282-41C>T | | RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 | 1 |
| SEPN1 | 606210 | 602771 | 1p36-p35 | c.1359 G>C (W453C) | | RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
| 2 |
| SEPN1 | 606210 | 602771 | 1p36-p35 | c.1397G>A (p.Asn238Lysfs*63) | | RIGID SPINE MUSCULAR DYSTROPHY 1 | 1 |
| SEPN1 | 606210 | 606210 | 1p36-p35 | c.142delG | | | 1 |
| SEPN1 | 606210 | 606210 | 1p36-p35 | c.943G>A | 0008 | | 3 |