| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome | |
| | | Single nucleotide variant (nonsense) | Congenital muscular hypertrophy-cerebral syndrome | |
Click to view in NCBI Gene