| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Insertion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
Click to view in NCBI Gene