| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (intron variant) | HECW2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
Click to view in NCBI Gene