| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
Click to view in NCBI Gene