| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Freeman-Sheldon syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (splice donor variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +2 more | GPathogenic/Likely pathogenic |
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