| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 +3 more | |
Click to view in NCBI Gene