| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Autosomal dominant nonsyndromic hearing loss 69 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Waardenburg syndrome, IIa 2F | |
Click to view in NCBI Gene