| Gene | Description | Location | Mutation | Sample Count | Diagnosis |
| C9ORF72 | CHROMOSOME 9 OPEN READING FRAME 72; C9ORF72 | 9p21 | (GGGGCC)n EXPANSION | 73 | AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 |
| C9ORF72 | CHROMOSOME 9 OPEN READING FRAME 72; C9ORF72 | 9p21 | (GGGGCC)n EXPANSION | 1 | ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL |
| SOD1 | SUPEROXIDE DISMUTASE 1; SOD1 | 21q22.11 | ILE113THR | 1 | AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 |
| SOD1 | SUPEROXIDE DISMUTASE 1; SOD1 | 21q22.11 | ALA4VAL | 4 | AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 |
| SOD1 | SUPEROXIDE DISMUTASE 1; SOD1 | 21q22.11 | ASP90ALA | 1 | AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 |