| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Spondylocarpotarsal synostosis syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Spondylocarpotarsal synostosis syndrome | |
| | | Single nucleotide variant (nonsense) | Spondylocarpotarsal synostosis syndrome | |
| | | Single nucleotide variant (nonsense) | Spondylocarpotarsal synostosis syndrome | |
| | | Deletion (frameshift variant) | Spondylocarpotarsal synostosis syndrome | |
| | | Single nucleotide variant (splice donor variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +1 more | |
| | | Single nucleotide variant (splice donor variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (nonsense) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +1 more | |
| | | Single nucleotide variant (splice donor variant) | Contractures, pterygia, and variable skeletal fusions syndrome 1B +5 more | GPathogenic/Likely pathogenic |
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