| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +2 more) | ZTTK syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | ZTTK syndrome +2 more | |
| | | Insertion (frameshift variant +2 more) | ZTTK syndrome | |
| | | Deletion (frameshift variant +2 more) | ZTTK syndrome | |
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