| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Global developmental delay +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (nonsense) | Global developmental delay +4 more | |
| | | Single nucleotide variant (missense variant) | Tip-toe gait +1 more | |
| | | Single nucleotide variant | Mitochondrial disease | |
Click to view in NCBI Gene