| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129929114, DVL1 (S562fs +1 more) | Deletion (frameshift variant) | Autosomal dominant Robinow syndrome 2 | |
| | DVL1, LOC129929114 (S542fs +1 more) | Deletion (frameshift variant) | Autosomal dominant Robinow syndrome 2 | |
| | DVL1, LOC129929114 (S564fs +1 more) | Duplication (frameshift variant) | Autosomal dominant Robinow syndrome 2 | |
| | DVL1, LOC129929114 (S539fs +1 more) | Deletion (frameshift variant) | Autosomal dominant Robinow syndrome 2 | |
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