| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Deletion (splice acceptor variant) | Amyotrophic lateral sclerosis type 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal recessive distal spinal muscular atrophy 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Deletion (frameshift variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +2 more | |
| | | Deletion (frameshift variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Deletion (inframe_deletion +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Amyotrophic lateral sclerosis type 16 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (nonsense +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Deletion (frameshift variant +2 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +4 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | SIGMAR1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (nonsense +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 16 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Amyotrophic lateral sclerosis type 16 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive distal spinal muscular atrophy 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |