| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ZFTRAF1, TMEM276-ZFTRAF1 (L258fs +3 more) | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia and gross motor and speech delay | |
| | ZFTRAF1, TMEM276-ZFTRAF1 (F232fs +3 more) | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia and gross motor and speech delay | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder with hypotonia and gross motor and speech delay | |
Click to view in NCBI Gene