| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | not provided | GPathogenic/Likely pathogenic |
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