| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | PLOD1-related condition | |
| | LOC112577486, PLOD1 (D46Y) | Single nucleotide variant (missense variant +1 more) | PLOD1-related condition | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Insertion (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Microsatellite (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Duplication (splice acceptor variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Deletion (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |