| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
Click to view in NCBI Gene