| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | LOC130002527, LOC130002528 +1272 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003109, LOC130003110 +1210 more | Copy number gain | See cases | |
| | LOC130002885, LOC130002886 +789 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002822, LOC130002823 +160 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839534, LOC121366032 +25 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Deletion (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Duplication (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Deletion (3 prime UTR variant) | not provided +3 more | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Duplication (frameshift variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Microsatellite (frameshift variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 4 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Amyotrophic lateral sclerosis type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | SETX-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |