| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | |
| | | Single nucleotide variant (missense variant) | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more | |
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