| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Heart and brain malformation syndrome | |
| | | Single nucleotide variant (nonsense) | Heart and brain malformation syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | |
| | | Deletion (frameshift variant) | Global developmental delay +3 more | |
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