| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | CABP2-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 93 +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
Click to view in NCBI Gene