| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | |
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