| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_insertion) | Kohlschutter-Tonz syndrome-like +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with dysmorphic facies and dental anomalies | |
| | | Single nucleotide variant (missense variant) | Developmental delay with dysmorphic facies and dental anomalies | |
| | | Duplication (inframe_insertion) | Developmental delay with dysmorphic facies and dental anomalies | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Kohlschutter-Tonz syndrome-like | |
| | | Duplication (frameshift variant) | Developmental delay with dysmorphic facies and dental anomalies | |
| | | Duplication (nonsense) | Developmental delay with dysmorphic facies and dental anomalies | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Deletion (frameshift variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant) | SATB1-related neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
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