| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EHMT1, LOC130003148 (R530* +2 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Microsatellite (frameshift variant) | Kleefstra syndrome 1 +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
Click to view in NCBI Gene