| | | Single nucleotide variant (intron variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +5 more | |
| | | Duplication (intron variant) | not provided +6 more | |
| | | Single nucleotide variant (intron variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Freeman-Sheldon syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Freeman-Sheldon syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Freeman-Sheldon syndrome +6 more | |
| | | Single nucleotide variant (intron variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more | |
| | | Single nucleotide variant (synonymous variant) | Freeman-Sheldon syndrome +6 more | |
| | | Deletion (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Freeman-Sheldon syndrome +6 more | |
| | | Single nucleotide variant (intron variant) | not specified +6 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +6 more | |
| | | Deletion (intron variant) | Freeman-Sheldon syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +6 more | |
| | | Single nucleotide variant (intron variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Duplication (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |