Table 2.
Abridged list of identified variants in genes listed in Amyotrophic Lateral Sclerosis Online Database (ALSoD).
| Gene | Mutation | Genotype (Affected/ Unaffected) |
Variant Type |
Clinical Significance |
gnomAD Frequency |
HGMD Phenotype |
|---|---|---|---|---|---|---|
| CHGB | c.1058C>G p.Ala353Gly |
Heterozygous/ Heterozygous |
Missense | Variant of Unknown Significance | 0.451 | Schizophrenia |
| CHGB | c.1250G>A p.Arg417His |
Heterozygous/ Heterozygous |
Missense | Variant of Unknown Significance | 0.277 | Schizophrenia |
| OPTN | c.964A>G p.Lys322Glut |
Homozygous/ Homozygous |
Missense | Pathogenic | 0.997 | Open Angle Glaucoma |
| SIGMAR1 | c.*31A>G | Homozygous/ Homozygous |
3′ UTR variant | Variant of Unknown Significance | 0.995 | Amyotrophic lateral sclerosis |
| NIPA1 | c.42_47dupGGCGGC p.Ala15_Ala16dup |
Heterozygous/ Heterozygous |
Disruptive inframe insertion | Variant of Unknown Significance | - | - |