| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Macrocephaly, macrosomia, facial dysmorphism syndrome | |
| | | Deletion (frameshift variant) | Macrocephaly, macrosomia, facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly, macrosomia, facial dysmorphism syndrome | |
| | | Deletion (3 prime UTR variant +1 more) | Autism spectrum disorder | |
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