| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 17 +2 more | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 2 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene