| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene