| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (nonsense) | NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES | |
| | | Deletion (frameshift variant) | NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (intron variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (intron variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (intron variant) | Pseudohypoaldosteronism type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Pseudohypoaldosteronism type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder without autism with seizures | |
| | | Single nucleotide variant (nonsense) | NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Neurodevelopmental disorder without autism with seizures | |
Click to view in NCBI Gene