| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Dent disease type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Lowe syndrome | |
| | | Single nucleotide variant (nonsense) | Lowe syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Lowe syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
Click to view in NCBI Gene