| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Neurodevelopmental disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene