| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | |
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