| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis type 2B1 +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 (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Freeman-Sheldon syndrome +4 more | |
Click to view in NCBI Gene