| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language +2 more | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
Click to view in NCBI Gene