| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant) | Timothy syndrome | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | |
| | | Copy number gain | Small hand +6 more | |
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