| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Duplication | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Deletion (frameshift variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Duplication (frameshift variant +1 more) | Neurodevelopmental delay | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Paroxysmal nocturnal hemoglobinuria 2 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more | |
| | | Insertion (frameshift variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
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