| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Blue sclerae +7 more | |
| | | Single nucleotide variant (missense variant) | Fetal growth restriction +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, type 5A +2 more | |
Click to view in NCBI Gene