| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
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