| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and gross motor and speech delay | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia and gross motor and speech delay +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia and gross motor and speech delay +1 more | GConflicting classifications of pathogenicity |
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