| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Chudley-McCullough syndrome | |
| | | Single nucleotide variant (nonsense) | Chudley-McCullough syndrome | |
| | | Single nucleotide variant (nonsense) | Chudley-McCullough syndrome | |
| | | Single nucleotide variant (nonsense) | Rare genetic deafness +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene