| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 11 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hypomyelinating leukodystrophy 11 | |
| | | Single nucleotide variant (missense variant) | Congenital anomaly of kidney and urinary tract | |
Click to view in NCBI Gene