| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Luscan-Lumish syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Rabin-Pappas syndrome +3 more | GConflicting classifications of pathogenicity |
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