| | | Copy number gain | See cases | |
| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC132089671, LOC132089672 +1213 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC03026, LINC03041 +1366 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001672, LOC130001673 +983 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC03041, LINC03106 +898 more | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | LOC126860576, LOC126860577 +897 more | Copy number gain | See cases | |
| | LOC130001469, LOC130001470 +898 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ERVFRD-3, FAM219A +585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860615, LOC126860616 +435 more | Copy number gain | See cases | |
| | LOC130001735, LOC130001736 +503 more | Copy number gain | See cases | |
| | ALDH1B1, ANKRD18B +360 more | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Amyotrophic lateral sclerosis type 16 +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) | not provided +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) | 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) | 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 provided +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) | Autosomal recessive distal spinal muscular atrophy 2 +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 | |