| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Perry syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Perry syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Perry syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Perry syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Perry syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Perry syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perry syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Perry syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perry syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Deletion (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Deletion (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Duplication (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Duplication (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | DCTN1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | DCTN1-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Deletion (inframe_deletion +1 more) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | DCTN1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +3 more | |
| | | Deletion (splice acceptor variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, type 7B +2 more | |