| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DEAF1, LOC126861109 (T190fs +2 more) | Duplication (frameshift variant) | Intellectual disability | |
| | | Deletion (frameshift variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
Click to view in NCBI Gene