| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (splice donor variant) | DeSanto-Shinawi syndrome due to WAC point mutation +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
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