| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Baraitser-winter syndrome 2 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Baraitser-winter syndrome 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nonsyndromic hearing loss 20 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene