| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +1 more | |
| | | Microsatellite (nonsense +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
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