| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | DEAF1, LOC126861109 (A255V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (K250E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (R242* +2 more) | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126861109, DEAF1 (Y213H +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (E207fs +2 more) | Insertion (frameshift variant) | not provided | |
| | DEAF1, LOC126861109 (P197A +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (A436V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (K193E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (A185V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
Click to view in NCBI Gene