| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lowe syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lowe syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental delay +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Lowe syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene