| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | See cases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | O'Donnell-Luria-Rodan syndrome | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
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