| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Abnormal upper limb bone morphology +15 more | |
| | | Deletion (frameshift variant) | Distal arthrogryposis +22 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cognitive impairment +12 more | |
Click to view in NCBI Gene