| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DEAF1, LOC126861109 (Q248* +2 more) | Single nucleotide variant (nonsense) | Intellectual disability-epilepsy-extrapyramidal syndrome | |
| | DEAF1, LOC126861109 (E204D +2 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 24 | |
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