| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | |
Click to view in NCBI Gene