| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Welander distal myopathy | |
| | | Single nucleotide variant (nonsense +3 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +3 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +3 more) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +3 more) | Welander distal myopathy | |
| | | Single nucleotide variant (splice acceptor variant) | Welander distal myopathy | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +3 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +3 more) | Welander distal myopathy | |
| | | Microsatellite (3 prime UTR variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Microsatellite (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Welander distal myopathy | |
| | | Duplication | not provided | |
| | | Duplication | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Welander distal myopathy | |
| | | Deletion (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Deletion (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +3 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +3 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Welander distal myopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +4 more) | Welander distal myopathy | |
| | | Duplication (frameshift variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Microsatellite (intron variant) | Welander distal myopathy | |
| | | Deletion (inframe_deletion +2 more) | Welander distal myopathy | |
| | | Deletion (intron variant) | Welander distal myopathy | |
| | | Microsatellite (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (intron variant) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +3 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |