| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | not provided | |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene