| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | |
| | | Single nucleotide variant (nonsense) | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | |
| | | Duplication (intron variant) | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more | |
| | | Duplication (intron variant) | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more | |
Click to view in NCBI Gene