| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129929515, LOC129929516
+211 more | Copy number gain | See cases | |
| | | Duplication (intron variant) | not provided | |
| | ATP13A2, LOC129929540 (A3P) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
Click to view in NCBI Gene