| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DEAF1, LOC126861109 (Q248* +2 more) | Single nucleotide variant (nonsense) | Intellectual disability-epilepsy-extrapyramidal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 24 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-epilepsy-extrapyramidal syndrome | |
Click to view in NCBI Gene