| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
Click to view in NCBI Gene