| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 54 | |
| | | Single nucleotide variant (nonsense +1 more) | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant) | Developmental disorder | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 54 | |
Click to view in NCBI Gene