| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiootic syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Autosomal dominant nonsyndromic hearing loss 23 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Branchiootic syndrome 3 +1 more | |
Click to view in NCBI Gene