| | | Deletion | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Deletion (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Deletion (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (nonsense) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Deletion (splice donor variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (nonsense) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (nonsense) | Senior-Loken syndrome 8 +1 more | |
| | | Microsatellite (frameshift variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (nonsense) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Deletion (splice donor variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Duplication (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (nonsense) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Deletion (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Deletion (frameshift variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Deletion (nonsense) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Deletion (intron variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Duplication | Senior-Loken syndrome 8 +1 more | |
| | | Deletion | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Deletion | Senior-Loken syndrome 8 +1 more | |
| | | Deletion | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +1 more | |