| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related de Barsy syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | ALDH18A1-related condition | |
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related condition | |
| | | Inversion (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Duplication (nonsense) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Deletion (frameshift variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Insertion (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Deletion (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Deletion (frameshift variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Duplication (frameshift variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | de Barsy syndrome +2 more | |
| | | Deletion (frameshift variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | de Barsy syndrome +2 more | |
| | | Deletion (intron variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | de Barsy syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (nonsense) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Microsatellite (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa, autosomal dominant 3 +2 more | |